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	NSWES962	WT	HH	HZ	NC
chr1	1232399	1232399	G	T	exonic	B3GALT6	.	nonsynonymous SNV	B3GALT6:NM_080605:exon1:c.G121T:p.A41S,	Ehlers-Danlos syndrome, progeroid type, 2, Autosomal recessive;Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.001	B	0.001	B	0.072	U	1.000	N	0	N	0.95	T	-0.996	T	0.056	T	0.095	0.135	4.728	-0.498	-2.057	-0.087	8.383	0.020	0.143256715659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.156e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.722	0.03903	T	0.64	0.06970	T	0.001	0.07471	B	0.001	0.04355	B	0.072255	0.02263	U	4.590520	1	0.08975	N	0	0.06538	N	0.95	0.43279	T	0.09	0.05917	N	0.032	0.00825	-0.9958	0.31082	T	0.056	0.23450	T	10	0.05187556	0.05136	T	0.143257	0.82560	D	0.020	0.03691	0.204	0.11936	0.316788114976	0.31282	0.24029469132405273	0.23943	0.844674069954	0.68227	0.832674741745	0.86972	D	9.43E-4	0.00494	T	-0.335437	0.05711	T	-0.719608	0.04814	T	0.0607369874046286	0.07283	T	0.218378	0.02784	T	0.034588423	0.03909	0.048117343	0.07080	0.034588423	0.03909	0.048117343	0.07080	-4.318	0.28428	T	.	.	0.087	0.11414	B	.;.	.;.	-0.353814	0.02391	0.265	0.65426608565659405	0.07769	0.41847	0.26748	N	ALL	0.048456	0.08269	N	-1.78811140266472	0.00575	0.02476182	-1.8261105764537	0.00679	0.03021283	0.999999999992595	0.74766	0.437478	0.07067	0	0.166054	0.03914	2	0.391439	0.06340	0	0.603991	0.37454	0	.	.	2.32	-0.498	0.11419	0.048000	0.13962	-0.379000	0.09554	-1.037000	0.01675	0.000000	0.06391	0.001000	0.17328	0.010000	0.09038	0.1179:0.3429:0.5392:0.0	8.383	0.31647	745	0.52414	.;.	.	.	.	.	.	Uncertain significance	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	46.26	2	chr1	1232399	.	G	T	46.26	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.100e-01;DP=263;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.63;ReadPosRankSum=1.83;SOR=0.892	GT:AD:DP:GQ:PL	0/1:7,3:10:60:60,0,191	20	0	1	0
chr1	1312943	1312943	C	T	exonic	INTS11	.	nonsynonymous SNV	INTS11:NM_001256462:exon10:c.G844A:p.V282I	.	.	422	1099	1	0	0	1	0.000454752	.	.	3264220	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.722	P	0.447	P	0.000	N	1.000	D	0.905	L	0.78	T	-1.014	T	0.120	T	0.273	3.202	16.72	4.65	1.344	5.292	14.414	0.067	0.0119267325233	0.0003	0.000199681	0.0002	0.0010	0.0002	0.0005	0	9.284e-05	0	0	0.0001876	29	154602	rs143110978	0.0002	0.0002	0.0002	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	0.0003	0.0002	0	0.0001	9.619e-05	0.0014	0.0002	0.0002	1.16e-05	0.0003	0.0003	0.0003	0.0002	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0002	0	0	0.0002	0	0.0001	0	0	0.279	0.18434	T	0.322	0.22494	T	0.476	0.42387	P	0.315	0.46003	B	0.000002	0.62929	N	0.059100	1	0.81001	D	1.2	0.30300	L	0.78	0.51714	T	-0.68	0.19509	N	0.338	0.40063	-1.0145	0.25497	T	0.120	0.41950	T	10	0.059907377	0.07276	T	0.011927	0.30037	T	0.067	0.19503	.	.	0.500113493057	0.49646	0.4882352124635133	0.48743	0.0585938424744	0.06498	0.482357919216	0.36382	T	0.015681	0.29650	T	-0.374912	0.03353	T	-0.404047	0.32915	T	0.00749443690907001	0.00087	T	0.872513	0.57956	D	0.1526866	0.34647	0.07797591	0.17422	0.1526866	0.34647	0.07797591	0.17422	-7.627	0.62579	D	.	.	0.116	0.30103	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.113661	0.42013	21.5	0.99667085405465983	0.78330	0.93541	0.58498	D	AEFDBHCI	0.497280	0.53187	N	0.115958255034121	0.47207	2.949676	0.228446525996642	0.51432	3.325749	0.999999985031482	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.56	4.65	0.57626	4.388000	0.59397	3.923000	0.40484	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.9283:0.0:0.0717	14.414	0.66711	774	0.48577	.;.;Zn-dependent metallo-hydrolase, RNA specificity domain;Zn-dependent metallo-hydrolase, RNA specificity domain;Zn-dependent metallo-hydrolase, RNA specificity domain;Zn-dependent metallo-hydrolase, RNA specificity domain;Zn-dependent metallo-hydrolase, RNA specificity 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	1971.98	36	chr1	1312943	.	C	T	1971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.960;DP=992;ExcessHet=0.0000;FS=3.270;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=0.396;SOR=0.816	GT:AD:DP:GQ:PL	0/1:114,83:197:99:1986,0,2874	20	0	1	0
chr1	1419397	1419397	C	T	exonic	ANKRD65	.	stopgain	ANKRD65:NM_001375659:exon2:c.G362A:p.W121X	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	2.821	15.40	0.434	0.350	1.234	8.177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1002547176	3.577e-06	3.42e-06	5.648e-06	1.451e-06	2.781e-06	1.05e-06	7.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.781e-06	3.45e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999955	0.52396	D	.	.	.	.	.	.	.	.	.	0.068	0.05542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.373484	0.03421	T	-0.774261	0.02631	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	0.469259	0.08386	5.143	0.94455477496260565	0.24891	0.13483	0.17882	N	AEFDBCI	0.022766	0.01179	N	-0.734770598846895	0.15050	0.7550733	-0.848325523253533	0.13328	0.6907904	0.997215502959795	0.35382	0.646311	0.45356	0	0.633563	0.54681	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.51	0.434	0.15752	1.088000	0.30489	1.330000	0.25662	0.287000	0.18726	0.041000	0.21027	1.000000	0.68203	0.081000	0.17303	0.0:0.6364:0.0:0.3636	8.177	0.30448	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	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	1548.98	38	chr1	1419397	.	C	T	1548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.097e+00;DP=878;ExcessHet=0.0000;FS=0.660;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=-6.350e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/1:61,66:127:99:1563,0,1557	20	0	1	0
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	0/1:39,34,0:74:99:1273,0,1536,1419,1659,3194	10	3	7	0
chr1	6451693	6451693	C	T	exonic	ESPN	.	nonsynonymous SNV	ESPN:NM_031475:exon9:c.C2006T:p.P669L	Deafness, autosomal recessive 36, Autosomal recessive;Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)	.	0	1518	4	0	0	4	0.00131579	.	.	1175942	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	2.19	M	0.87	T	-0.556	T	0.264	T	0.528	3.321	17.17	4.95	2.572	5.373	17.351	0.200	0.172782137016	7.7e-05	.	0.0002	0	9.147e-05	0	0	0.0003	0	0	0.0001358	21	154602	rs146261521	0.0001	0.0001	9.535e-05	0.0001	0.0010	8.921e-05	8.405e-05	0.0005	0.0003	0	0.0004	0.0002	0	0	0.0010	9.893e-05	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0007	0.0005	7.214e-05	0	0.0010	0	0	0	0.0034	0.0002	0.0005	0	0.002	0.72154	D	0.02	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000102	0.50451	D	0.132942	0.999983	0.81001	D	2.125	0.59049	M	0.87	0.46412	T	-5.28	0.93509	D	0.348	0.53972	-0.5565	0.66538	T	0.264	0.63469	T	10	0.25626928	0.43028	T	0.172782	0.84966	D	0.200	0.48430	.	.	0.433379234345	0.42955	0.31551681879849763	0.31464	0.270625712525	0.29589	0.774583637714	0.78110	T	0.620891	0.88115	D	-0.274956	0.11211	T	-0.292182	0.45544	T	0.282362014055252	0.24270	T	0.949805	0.80758	D	0.4395465	0.63373	0.5426696	0.73567	0.4395465	0.63374	0.5426696	0.73567	-11.752	0.83622	D	.	.	0.308	0.60297	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.630965	0.73628	26.0	0.998478655805773	0.92750	0.95382	0.64502	D	AEFDBHCI	0.775965	0.70922	D	0.42573393452435	0.62840	4.506894	0.298118825217091	0.55431	3.70599	0.999999998723815	0.74766	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.620976	0.48614	0	.	.	4.95	4.95	0.64894	3.605000	0.53839	7.552000	0.60294	0.537000	0.25018	0.979000	0.35152	1.000000	0.68203	0.470000	0.28341	0.0:1.0:0.0:0.0	17.351	0.87213	833	0.38804	WH2 domain;WH2 domain;WH2 domain;WH2 domain;.;WH2 domain;WH2 domain;WH2 domain;WH2 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	1226.98	34	chr1	6451693	.	C	T	1226.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.670e-01;DP=777;ExcessHet=0.0000;FS=0.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=1.29;SOR=0.558	GT:AD:DP:GQ:PL	0/1:42,53:95:99:1241,0,973	20	0	1	0
chr1	8324374	8324374	C	G	exonic	SLC45A1	.	nonsynonymous SNV	SLC45A1:NM_001080397:exon2:c.C45G:p.F15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.004	N	0.997	N	-0.11	N	2.42	T	-0.946	T	0.014	T	0.113	-0.147	3.282	1.25	0.366	0.626	6.209	0.029	0.00451458909695	.	.	1.72e-05	0	0	0	0	1.585e-05	0	6.099e-05	1.29e-05	2	154602	rs774770763	1.095e-05	1.094e-05	1.226e-05	9.634e-06	0.0002	6.49e-06	5.25e-06	4.55e-06	3.32e-06	0	2.236e-05	3.828e-05	0	0	0.0002	8.993e-06	1.656e-05	2.319e-05	5.918e-05	5.91e-05	5.142e-05	6.731e-05	0.0001	3.079e-05	2.212e-05	6.806e-05	5.089e-05	0	0	0	0	0	0	0	0.0001	0	0	0.709	0.04056	T	0.733	0.05109	T	.	.	.	.	.	.	0.004083	0.34125	N	0.319877	0.996534	0.22984	N	.	.	.	2.42	0.15376	T	-0.38	0.13418	N	0.071	0.10198	-0.9455	0.41731	T	0.014	0.05705	T	10	0.072831094	0.10926	T	0.004515	0.11094	T	0.029	0.06676	0.17	0.07536	0.377274123778	0.37341	0.33844762929300637	0.33757	0.483180356244	0.47271	0.426753640175	0.28765	T	.	.	.	-0.427773	0.01529	T	-0.670715	0.07563	T	0.0229944693608085	0.01023	T	0.532847	0.17735	T	0.073323295	0.16377	0.059435766	0.11153	0.073323295	0.16377	0.059435766	0.11153	-1.696	0.02218	T	.	.	0.241	0.48230	B	.;.	.;.	1.006232	0.13851	10.40	0.74381429226584095	0.10674	0.59651	0.30974	D	AEFBI	0.201205	0.32789	N	-0.892171566713766	0.11027	0.5300111	-0.768062520184728	0.15279	0.8027955	0.826499655814357	0.24616	0.553676	0.25195	0	0.610034	0.51514	0	0.603688	0.36954	0	0.620846	0.47308	0	.	.	4.32	1.25	0.20475	1.364000	0.33775	0.367000	0.17636	0.549000	0.26987	1.000000	0.71638	0.679000	0.26109	0.241000	0.23027	0.0:0.5085:0.3127:0.1789	6.209	0.19831	909	0.22467	.;.	.	.	.	.	.	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	1	0	0	0	0.02381	1187.98	37	chr1	8324374	.	C	G	1187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-03;DP=803;ExcessHet=0.0000;FS=1.715;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-8.100e-01;SOR=0.487	GT:AD:DP:GQ:PL	0/1:41,50:91:99:1202,0,985	20	0	1	0
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|1:141,71:212:99:0|1:10326243_T_C:1736,0,4827:10326243	8	0	13	0
chr1	10660197	10660197	G	A	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.C845T:p.T282M	.	.	422	1056	40	4	0	48	0.0222222	.	.	718055	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.06	T	0.998	D	0.78	P	0.190	N	0.997	N	0.55	N	.	.	-1.056	T	0.073	T	0.172	2.517	14.38	4.38	2.160	2.029	13.121	0.058	.	0.0059	0.00519169	0.0082	0.0015	0.0026	0.0004	0.0067	0.0100	0.0056	0.0135	0.0074837	1157	154602	rs61736951	0.0072	0.0072	0.0068	0.0076	0.0191	0.0071	0.0071	0.0162	0.0151	0.0019	0.0034	0.0160	0.0007	0.0055	0.0191	0.0069	0.0080	0.0150	0.0056	0.0056	0.0051	0.0061	0.0129	0.0053	0.0051	0.0103	0.0094	0.0012	0.0022	0.0059	0.0159	0.0006	0.0047	0.0136	0.0075	0.0090	0.0129	0.189	0.21224	T	0.107	0.37730	T	0.994	0.66517	D	0.669	0.53077	P	0.190046	0.16871	N	0.601187	0.996524	0.22987	N	0.345	0.11182	N	.	.	.	-0.63	0.19720	N	0.255	0.38129	-1.0558	0.12829	T	0.073	0.29675	T	9	0.004262656	0.00085	T	.	.	.	0.058	0.16647	.	.	0.117191471859	0.11215	0.11922760581229094	0.11849	.	.	0.504599630833	0.39469	T	0.201332	0.55919	T	-0.471224	0.00835	T	-0.43798	0.29036	T	0.0267151649434157	0.01504	T	0.822018	0.48145	T	0.041268017	0.06047	0.05852582	0.10829	0.043633867	0.06834	0.05852582	0.10828	-4.584	0.32184	T	.	.	0.086	0.15475	B	.;.	.;.	3.062232	0.41128	21.3	0.99763478845760645	0.85254	0.87686	0.47309	D	AEFBI	0.337971	0.43559	N	0.187735215576894	0.50610	3.249349	0.183295668271457	0.48932	3.102669	0.999283082583387	0.39007	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.38	4.38	0.52019	4.139000	0.57788	6.578000	0.55988	0.618000	0.50648	0.976000	0.34826	1.000000	0.68203	0.214000	0.22296	0.0:0.161:0.839:0.0	13.121	0.58746	777	0.48198	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2025.11	33	chr1	10660197	.	G	A	2025.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.28;DP=886;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=0.454;SOR=0.736	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1313,0,1079	19	0	2	0
chr1	12283702	12283702	T	G	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon21:c.T5600G:p.L1867R	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.023	B	0.033	B	0.122	N	1.000	N	0	N	0.66	T	-1.032	T	0.051	T	0.348	-0.305	2.546	3.53	0.439	0.564	2.896	0.012	0.00337873581227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.45530	T	0.0	0.18885	B	0.0	0.22329	B	0.121589	0.18990	N	0.520652	1	0.08975	N	0.69	0.16971	N	.	.	.	.	.	.	0.318	0.35832	-1.0321	0.19777	T	0.051	0.21806	T	10	0.05791223	0.06726	T	0.003379	0.07572	T	.	.	0.355	0.35571	0.043077524339	0.03247	0.2005639899622379	0.19973	.	.	0.348939090967	0.17766	T	0.075212	0.35123	T	-0.108574	0.35005	T	-0.393736	0.34115	T	0.0493409112095833	0.05384	T	0.662834	0.27173	T	0.09981026	0.23560	0.09330764	0.22033	0.09981026	0.23560	0.09330764	0.22032	-4.354	0.28927	T	0.16145094444479716	0.19767	0.079	0.07177	B	.;.	.;.	2.817385	0.37108	20.4	0.9100729863505973	0.20257	0.30720	0.24154	N	AEFDBI	0.119735	0.23357	N	-0.863579425281324	0.11717	0.5670057	-0.748231390289686	0.15765	0.830789	0.88509651920789	0.25709	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.92	3.53	0.39533	0.633000	0.24289	5.132000	0.47660	0.665000	0.62972	0.342000	0.25692	0.997000	0.33255	0.950000	0.49671	0.1278:0.1089:0.1327:0.6306	2.896	0.05340	533	0.73433	.;.	.	.	.	.	.	Uncertain significance	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	1084.98	36	chr1	12283702	.	T	G	1084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.092e+00;DP=778;ExcessHet=0.0000;FS=3.901;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.96;ReadPosRankSum=1.29;SOR=0.291	GT:AD:DP:GQ:PL	0/1:30,38:68:99:1099,0,938	20	0	1	0
chr1	13345161	13345161	G	C	exonic	PRAMEF14	.	nonsynonymous SNV	PRAMEF14:NM_001024661:exon2:c.C154G:p.L52V,	.	.	448	1050	24	0	0	24	0.0112994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.972	D	0.003	N	1.000	N	2.155	M	2.34	T	-1.127	T	0.085	T	0.273	2.019	12.71	1.69	1.250	1.319	6.888	0.057	0.00122823695766	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4083405	0.0065	0.0097	0.0062	0.0068	0.0101	0.0064	0.0064	0.0096	0.0094	0.0017	0.0019	0.0034	0.0010	0.0209	0.0078	0.0061	0.0069	0.0101	0.0086	0.0090	0.0082	0.0091	0.0128	0.0083	0.0081	0.0114	0.0111	0.0023	0	0.0030	0.0055	0.0030	0.0226	0.0069	0.0121	0.0062	0.0128	0.027	0.46513	D	0.04	0.50809	D	.	.	.	.	.	.	0.003069	0.35480	N	0.187155	0.999829	0.20203	N	.	.	.	2.34	0.16351	T	-2.62	0.56301	D	0.314	0.35408	-1.1271	0.01926	T	0.085	0.33014	T	10	0.013097256	0.00279	T	0.002789	0.05810	T	0.060	0.17295	.	.	0.151262610727	0.14761	0.351644659497815	0.35078	3.38724322197	0.99691	.	.	.	.	.	.	-0.235238	0.15962	T	-0.575679	0.14933	T	0.56700986623764	0.35120	D	0.610839	0.23175	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25592	B	.	.	1.240337	0.16358	12.49	0.99596510723236842	0.73925	0.03915	0.09299	N	AEFI	0.037934	0.05291	N	-0.134736818385502	0.35886	2.06705	-0.392184949578586	0.25228	1.386172	4.36143937790654E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.69	1.69	0.23290	1.543000	0.35754	-1.448000	0.05416	0.478000	0.22058	0.023000	0.19925	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	6.888	0.23393	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	256.98	34	chr1	13345161	.	G	C	256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.547;DP=811;ExcessHet=0.0000;FS=10.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=35.00;MQRankSum=-8.900e-02;QD=4.43;ReadPosRankSum=-1.018e+00;SOR=2.470	GT:AD:DP:GQ:PL	0/1:46,12:58:99:271,0,1281	20	0	1	0
chr1	13583873	13583873	C	G	exonic	PDPN	.	nonsynonymous SNV	PDPN:NM_198389:exon1:c.C68G:p.A23G,	.	.	375	1144	2	1	0	4	0.0017452	.	.	2345088	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.023	B	0.017	B	0.006	N	1.000	N	0	N	0.89	T	-1.020	T	0.050	T	0.173	1.873	12.22	-4.02	-0.315	0.191	1.503	0.139	0.0101943811564	.	.	8.843e-05	0	0	0	0	0.0001	0	0.0002	6.47e-05	10	154602	rs773006448	5.293e-05	5.267e-05	3.419e-05	7.188e-05	0.0019	4.298e-05	3.972e-05	0.0011	0.0008	0	0	0	0	0	0.0019	2.436e-05	6.665e-05	0.0004	3.281e-05	3.28e-05	6.421e-05	0	0.0002	1.26e-05	7.97e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0.0034	4.409e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.023	0.18885	B	0.017	0.18140	B	0.006465	0.01127	N	20.648400	1	0.08975	N	.	.	.	0.89	0.45636	T	-0.74	0.20791	N	0.09	0.21839	-1.0199	0.23747	T	0.050	0.21378	T	10	0.029659152	0.01092	T	0.010194	0.26434	T	0.139	0.37390	0.04	0.00032	0.338110398507	0.33423	0.03206040041816573	0.03154	0.385878617813	0.39878	0.373702406883	0.21362	T	.	.	.	-0.449232	0.01141	T	-0.577091	0.14805	T	0.158721819720124	0.17776	T	0.381362	0.09225	T	.	.	.	.	.	.	.	.	-3.311	0.13879	T	.	.	0.101	0.17953	B	.;.;.	.;.;.	0.794290	0.11650	8.233	0.93710322476809604	0.23627	0.05848	0.11792	N	AEFDBHCIJ	0.082902	0.16790	N	-1.36105192789669	0.03012	0.1338817	-1.41125972225405	0.03139	0.1458292	0.9999998561557	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.52208	0.10781	0	0.564101	0.26826	0	.	.	4.43	-4.02	0.03764	0.088000	0.14821	-0.917000	0.06933	-0.305000	0.06155	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4977:0.1871:0.1255:0.1897	1.503	0.02332	.	.	.;.;.	.	.	.	.	.	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	808.98	36	chr1	13583873	.	C	G	808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.153e+00;DP=802;ExcessHet=0.0000;FS=0.853;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=-1.250e+00;SOR=0.560	GT:AD:DP:GQ:PL	0/1:61,32:93:99:823,0,1762	20	0	1	0
chr1	15445660	15445660	G	A	exonic	CTRC	.	nonsynonymous SNV	CTRC:NM_007272:exon7:c.G703A:p.V235I,	.	YES	415	1086	21	0	0	21	0.00957592	.	.	277389	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.996	D	0.969	D	0.000	D	1.000	D	2.35	M	-3.46	D	0.983	D	0.897	D	0.82	3.594	18.30	4.38	2.454	5.592	16.050	0.797	0.138657935058	7.7e-05	0.00119808	0.0012	9.625e-05	0.0005	0	0	0.0003	0	0.0068	0.0009832	152	154602	rs140993290	0.0007	0.0007	0.0004	0.0009	0.0079	0.0006	0.0006	0.0074	0.0072	0.0003	0.0002	0.0005	0	3.744e-05	0.0050	0.0002	0.0005	0.0079	0.0005	0.0005	0.0003	0.0007	0.0083	0.0004	0.0004	0.0063	0.0056	9.624e-05	0	6.538e-05	0.0014	0.0002	0	0.0034	0.0003	0.0009	0.0083	0.006	0.61437	D	0.007	0.69154	D	0.996	0.68779	D	0.969	0.72001	D	0.000067	0.52346	D	0.126644	0.999064	0.81001	D	1.1	0.28011	L	-3.46	0.94508	D	-0.93	0.24898	N	0.524	0.55366	0.983	0.96904	D	0.897	0.96582	D	10	0.025823325	0.00765	T	0.138658	0.82115	D	0.797	0.93346	.	.	0.824012481446	0.82234	0.5726204761015677	0.57190	0.633953125668	0.57268	0.422646105289	0.28200	T	0.259948	0.63127	T	-0.0207142	0.48752	T	0.201614	0.83215	D	0.0184037413051345	0.00557	T	0.783522	0.42019	T	0.6675369	0.76301	0.7689695	0.86357	0.6858084	0.77285	0.71754605	0.83327	-10.422	0.76398	D	0.3872254015445177	0.48088	0.208	0.43448	B	.	.	4.622077	0.73408	26.0	0.99874658187836918	0.95160	0.96887	0.71481	D	AEFGBI	0.763965	0.70090	D	0.623640137267991	0.74673	6.172706	0.536749447529981	0.70482	5.51161	0.996679899047473	0.34917	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.38	4.38	0.52019	3.662000	0.54249	11.510000	0.92999	0.676000	0.76740	0.936000	0.32490	1.000000	0.68203	0.838000	0.39538	0.0:0.0:1.0:0.0	16.050	0.80559	917	0.20147	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1578.98	37	chr1	15445660	.	G	A	1578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.930;DP=893;ExcessHet=0.0000;FS=0.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=0.736;SOR=0.580	GT:AD:DP:GQ:PL	0/1:53,65:118:99:1593,0,1145	20	0	1	0
chr1	15518245	15518245	C	T	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon2:c.G283A:p.A95T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.073	B	0.06	B	0.141	N	1.000	N	0.895	L	4.64	T	-0.936	T	0.014	T	0.276	1.481	10.90	1.3	0.164	-0.009	4.527	0.028	0.00506188088607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.194	0.27783	T	0.484	0.16086	T	0.073	0.24078	B	0.06	0.26717	B	0.141159	0.18286	N	0.585612	0.999994	0.08975	N	1.24	0.30952	L	4.62	0.07920	T	-0.74	0.21429	N	0.074	0.13769	-0.9358	0.43272	T	0.014	0.05417	T	10	0.053319484	0.05503	T	0.005062	0.12815	T	0.028	0.06331	0.254	0.19378	0.392702134506	0.38879	0.24656893987794953	0.24570	0.116016811942	0.13085	0.25747859478	0.04595	T	0.102883	0.41102	T	-0.256968	0.13258	T	-0.606893	0.12239	T	0.0615760572254658	0.07414	T	0.579442	0.27600	T	0.14816163	0.33838	0.08891712	0.20761	0.14816163	0.33837	0.08891712	0.20760	-3.89	0.22152	T	.	.	0.080	0.27910	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.452592	0.08228	4.965	0.83915295214700614	0.14992	0.14802	0.18593	N	AEFDBI	0.138554	0.25989	N	-1.40255826153729	0.02616	0.1157809	-1.42818620782576	0.02973	0.137829	0.956065343669796	0.28225	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.29	1.3	0.20778	-0.072000	0.11446	-0.311000	0.10039	-1.753000	0.00686	0.164000	0.23853	0.002000	0.18203	0.004000	0.06068	0.2166:0.6563:0.0:0.127	4.527	0.11393	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	596.83	142	chr1	15518245	.	C	T	596.83	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.421e+00;DP=1813;ExcessHet=1.7912;FS=165.634;InbreedingCoeff=-0.1592;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.402;SOR=11.152	GT:AD:DP:GQ:PL	0/1:118,43:161:99:170,0,2425	15	0	6	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	0/1:471,218:689:99:4924,0,13434	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	0/1:639,288:927:99:6045,0,17263	3	0	18	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	106526.9	1008	chr1	16564107	.	T	G	106526.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.422e+00;DP=17757;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=55.80;MQRankSum=6.43;QD=7.02;ReadPosRankSum=0.689;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:494,371:865:99:.:.:10670,0,14961	4	0	17	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	19191.79	994	chr1	16564112	.	G	A	19191.79	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.44;DP=16699;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=55.13;MQRankSum=4.65;QD=1.72;ReadPosRankSum=0.230;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:708,125:833:99:.:.:1590,0,25764	7	0	13	1
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	0/1:310,316:626:99:11916,0,11920	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	0/1:312,303:615:99:11664,0,11999	1	0	20	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	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	0.1429	7171.99	1271	chr1	16567226	.	A	C	7171.99	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.095;DP=12314;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1651;MLEAC=6;MLEAF=0.143;MQ=57.63;MQRankSum=-1.564e+00;QD=0.89;ReadPosRankSum=0.304;SOR=0.650	GT:AD:DP:GQ:PL	0/1:1276,202:1478:99:1664,0,34983	15	0	6	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	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	0.1	1480.07	652	chr1	16569091	.	T	C	1480.07	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-1.204e+00;DP=5353;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1301;MLEAC=4;MLEAF=0.100;MQ=43.09;MQRankSum=-2.580e+00;QD=0.65;ReadPosRankSum=-4.830e-01;SOR=0.685	GT:AD:DP:GQ:PL	0/1:460,73:533:99:356,0,12389	16	0	4	1
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|1:56,15:71:99:0|1:16579293_A_G:461,0,2306:16579293	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|1:56,15:71:99:0|1:16579293_A_G:461,0,2306:16579293	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	0/1:54,10:64:99:.:.:225,0,1657	3	0	18	0
chr1	16582698	16582698	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.005e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs775391120	0	1.757e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	80.98	41	chr1	16582698	.	T	C	80.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=841;ExcessHet=0.0000;FS=7.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.38;MQRankSum=0.021;QD=2.02;ReadPosRankSum=-9.480e-01;SOR=2.584	GT:AD:DP:GQ:PL	0/1:34,6:40:95:95,0,1093	20	0	1	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26,	.	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	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	0/1:55,24:79:99:599,0,1721	2	7	12	0
chr1	16760163	16760163	G	C	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon5:c.C585G:p.F195L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.968	D	0.733	P	0.031	N	.	.	.	.	.	.	-0.752	T	0.158	T	0.248	3.202	16.72	.	0.502	1.844	6.740	0.115	.	.	.	0.0002	0	0	0	0	0.0001	0.0128	0	6.5e-06	1	154602	rs758464228	3.141e-05	4.721e-05	2.635e-05	3.654e-05	0.0003	2.395e-05	2.137e-05	0.0001	0.0001	3.197e-05	9.309e-05	0.0004	0.0003	0	0.0002	1.182e-05	6.766e-05	1.182e-05	3.392e-05	5.918e-05	3.968e-05	2.785e-05	5.207e-05	1.292e-05	8.2e-06	8.63e-06	3.23e-06	5.207e-05	0	0	0.0003	0	0	0	2.969e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	55.98	39	chr1	16760163	.	G	C	55.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=738;ExcessHet=0.0000;FS=2.366;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=29.73;MQRankSum=-3.440e-01;QD=1.08;ReadPosRankSum=1.69;SOR=1.085	GT:AD:DP:GQ:PL	0/1:45,7:52:70:70,0,1227	20	0	1	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H,	.	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.001	D	.	.	.	.	.	.	-0.445	T	0.276	T	0.209	2.959	15.86	.	0.502	5.217	6.740	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.1905	3282.72	39	chr1	16760446	.	C	T	3282.72	.	AC=8;AF=0.190;AN=42;BaseQRankSum=2.49;DP=5013;ExcessHet=3.5521;FS=14.600;InbreedingCoeff=-0.2395;MLEAC=8;MLEAF=0.190;MQ=45.78;MQRankSum=-1.759e+00;QD=1.55;ReadPosRankSum=-3.770e-01;SOR=2.106	GT:AD:DP:GQ:PL	0/1:262,28:290:99:162,0,7242	13	0	8	0
chr1	19344367	19344367	T	C	exonic	CAPZB	.	nonsynonymous SNV	CAPZB:NM_001206540:exon8:c.A722G:p.N241S	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.003	B	0.004	B	0.000	D	1.000	D	0.345	N	.	.	-1.031	T	0.079	T	0.137	2.234	13.43	5.66	2.154	4.905	13.258	0.089	.	8.1e-05	0.000798722	0.0019	0	0	0	0.0159	0.0017	0.0056	0	0.0014942	231	154602	rs181908306	0.0008	0.0008	0.0009	0.0008	0.0003	0.0008	0.0008	0.0002	0.0002	0	0	0	0	0.0160	0.0002	0.0003	0.0011	1.16e-05	0.0016	0.0016	0.0012	0.0021	0.0009	0.0014	0.0014	0.0007	0.0006	2.404e-05	0	6.532e-05	0	0	0.0171	0	0.0009	0.0019	0	0.353	0.15823	T	0.667	0.07716	T	0.003	0.11197	B	0.002	0.10090	B	0.000001	0.62929	D	0.096959	0.999999	0.81001	D	0.55	0.14455	N	.	.	.	-2.2	0.49519	N	0.49	0.53269	-1.0306	0.20260	T	0.079	0.31375	T	9	0.008600771	0.00195	T	.	.	.	0.089	0.25827	.	.	0.490443569015	0.48678	0.6446988278894185	0.64404	1.20405714615	0.80630	0.608741998672	0.54138	T	0.105473	0.43726	T	-0.457447	0.01019	T	-0.435416	0.29321	T	0.0938115930214559	0.11663	T	0.985501	0.95103	D	0.12703568	0.29737	0.13064669	0.31387	0.12703568	0.29737	0.13064669	0.31387	-3.041	0.10629	T	.	.	0.116	0.23325	B	.;.;.;.	.;.;.;.	3.527336	0.49472	22.8	0.99014866982362859	0.50441	0.82897	0.42065	D	AEFGBHCI	0.743872	0.68704	D	-0.205123203179506	0.32924	1.862139	0.0271765267323483	0.40980	2.454536	0.999999989331266	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	5.66	5.66	0.87293	6.377000	0.73077	7.917000	0.74325	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.750000	0.35786	0.0:0.0:0.0:1.0	13.258	0.59521	568	0.70638	.;.;.;.	.	.	.	.	rs181908306	Uncertain significance	0	0	0	0	0	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	1659.98	33	chr1	19344367	.	T	C	1659.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.780e-01;DP=848;ExcessHet=0.0000;FS=7.465;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=-1.141e+00;SOR=1.085	GT:AD:DP:GQ:PL	0/1:76,67:143:99:1674,0,1928	20	0	1	0
chr1	20323486	20323486	T	C	exonic	VWA5B1	.	nonsynonymous SNV	VWA5B1:NM_001039500:exon8:c.T1097C:p.I366T	.	.	426	1058	38	0	0	38	0.0176416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.983	D	0.136	N	0.978	D	3.02	M	2.27	T	-0.768	T	0.151	T	0.803	4.192	21.7	5.44	2.059	7.292	14.306	0.279	.	0.0007	0.00299521	0.0070	0	0.0054	0	0	0.0015	0.0045	0.0195	0.0011319	175	154602	rs201370343	0.0013	0.0013	0.0009	0.0018	0.0155	0.0013	0.0013	0.0147	0.0144	0.0002	0.0006	0.0018	2.981e-05	2.044e-05	0.0092	0.0004	0.0019	0.0155	0.0009	0.0009	0.0004	0.0013	0.0162	0.0008	0.0007	0.0133	0.0122	4.813e-05	0	0.0012	0.0020	0	9.413e-05	0.0102	0.0004	0	0.0162	0.004	0.65419	D	0.003	0.76473	D	0.998	0.73220	D	0.983	0.75793	D	0.136158	0.18456	N	0.577246	0.977751	0.39397	D	3.495	0.92709	M	2.27	0.17431	T	-3.65	0.69950	D	0.831	0.83371	-0.7681	0.56962	T	0.151	0.47909	T	10	0.017407864	0.00371	T	.	.	.	0.279	0.59619	.	.	0.194818534648	0.19098	0.6890989978460175	0.68849	.	.	0.417895138264	0.27547	T	0.207884	0.56765	T	-0.243124	0.14954	T	-0.109033	0.62689	T	0.119954450924033	0.14425	T	0.884312	0.60710	D	0.43381843	0.63001	0.47718886	0.69710	0.43381843	0.63002	0.47718886	0.69711	-10.769	0.78471	D	.	.	0.221	0.48664	B	.;.	.;.	4.562828	0.71921	25.7	0.99806278955853256	0.89085	0.96560	0.69751	D	AEFDBHCIJ	0.834283	0.75235	D	0.596985983387991	0.72985	5.892872	0.541148797261749	0.70784	5.556301	0.999999999999452	0.74766	0.608966	0.35542	0	0.681609	0.65952	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.44	5.44	0.79348	7.273000	0.77921	7.906000	0.73790	0.665000	0.62972	0.972000	0.34453	0.994000	0.32194	0.983000	0.59808	0.0:0.0:0.0:1.0	14.306	0.65941	917	0.20147	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3395.11	35	chr1	20323486	.	T	C	3395.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.263;DP=1069;ExcessHet=0.1072;FS=2.092;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.150;SOR=0.839	GT:AD:DP:GQ:PL	0/1:77,63:140:99:1597,0,2082	19	0	2	0
chr1	25563142	25563142	C	A	exonic	LDLRAP1	.	nonsynonymous SNV	LDLRAP1:NM_015627:exon6:c.C605A:p.S202Y,	Hypercholesterolemia, familial, autosomal recessive	YES	1	1509	12	0	0	12	0.0039604	.	.	19815	Familial_hypercholesterolemia|not_specified|Hypercholesterolemia,_familial,_4	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374|MONDO:MONDO:0011374,MedGen:C1863512,OMIM:603813,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.885	P	0.252	N	0.000	A	2.005	M	0.34	T	-0.483	T	0.253	T	0.131	3.054	16.19	3.65	0.824	0.623	6.553	0.098	0.0801955060383	.	0.00159744	0.0012	0.0029	0.0026	0	0	0.0011	0.0034	0.0005	0.0010026	155	154602	rs121908326	0.0008	0.0008	0.0007	0.0008	0.0102	0.0007	0.0007	0.0082	0.0074	0.0030	0.0023	0.0031	0	0	0.0102	0.0005	0.0017	0.0006	0.0016	0.0017	0.0015	0.0018	0.0032	0.0015	0.0014	0.0027	0.0026	0.0032	0	0.0023	0.0014	0	0	0.0136	0.0009	0.0038	0.0015	0.01	0.56456	D	0.019	0.59159	D	0.974	0.57829	D	0.736	0.55529	P	0.251599	0.15498	N	0.673517	2.3949e-08	0.08975	A	2.105	0.58435	M	0.34	0.58176	T	-2.47	0.53898	N	0.36	0.40164	-0.4832	0.69252	T	0.253	0.62292	T	9	0.15271023	0.28839	T	0.080196	0.73407	D	0.098	0.28162	.	.	0.709925836417	0.70739	0.31660069560800125	0.31573	0.41760807969	0.42376	0.328747093678	0.14745	T	0.378373	0.74136	T	-0.494866	0.00611	T	-0.485407	0.23874	T	0.0185350502983893	0.00569	T	0.562644	0.19782	T	0.0788591	0.17983	0.08232798	0.18780	0.07735178	0.17550	0.09610253	0.22821	-6.873	0.53100	T	0.5453829937669651	0.61455	0.104	0.18869	B	.	.	2.329097	0.29836	18.25	0.98926678021605186	0.48657	0.07244	0.13268	N	AEFDBI	0.070493	0.13996	N	-0.123987220858582	0.36349	2.099917	-0.314463246413492	0.27632	1.53461	0.999994984250148	0.74766	0.646311	0.45356	0	0.71359	0.82159	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.51	3.65	0.40985	0.592000	0.23685	1.138000	0.24381	0.586000	0.30580	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6771:0.1588:0.1641	6.553	0.21640	590	0.68897	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1388.98	35	chr1	25563142	.	C	A	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.639e+00;DP=1350;ExcessHet=0.0000;FS=0.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.73;ReadPosRankSum=-2.260e-01;SOR=0.895	GT:AD:DP:GQ:PL	0/1:28,55:83:99:1403,0,655	20	0	1	0
chr1	25863026	25863026	C	T	exonic	PAQR7	.	nonsynonymous SNV	PAQR7:NM_178422:exon3:c.G814A:p.G272R,	.	.	419	1083	20	0	0	20	0.00914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	2.92	M	1.18	T	-0.483	T	0.203	T	0.988	4.099	21.1	4.28	1.390	5.912	14.899	0.562	.	0.0064	0.00379393	0.0060	0.0017	0.0097	0	0.0012	0.0082	0.0078	0.0020	0.0060219	931	154602	rs6689014	0.0073	0.0072	0.0074	0.0071	0.0084	0.0071	0.0071	0.0082	0.0082	0.0013	0.0074	0.0060	0	0.0022	0.0073	0.0084	0.0065	0.0022	0.0058	0.0058	0.0062	0.0054	0.0089	0.0054	0.0053	0.0083	0.0080	0.0015	0.0022	0.0084	0.0089	0.0002	0.0021	0.0034	0.0089	0.0057	0.0033	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.18	0.37746	T	-7.44	0.94872	D	0.925	0.92901	-0.4835	0.69241	T	0.203	0.55961	T	10	0.01880902	0.00413	T	.	.	.	0.562	0.82061	0.699	0.83592	0.554957464841	0.55154	0.9157431925714192	0.91549	0.938218820823	0.72115	0.681191921234	0.64439	T	0.394838	0.75387	T	-0.0440576	0.45344	T	0.171187	0.81481	D	0.0360575475350243	0.02990	T	0.884911	0.60954	D	0.9543799	0.96711	0.9164612	0.96148	0.9543799	0.96712	0.9164612	0.96149	-11.688	0.83298	D	.	.	0.851	0.79818	P	.	.	5.163742	0.86531	28.9	0.99890492660837893	0.96436	0.97667	0.76276	D	AEFBI	0.733892	0.68019	D	0.558272864835797	0.70586	5.523503	0.479788686155551	0.66652	4.98005	0.999999999801582	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.2	4.28	0.50183	6.151000	0.71589	7.694000	0.65937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1446:0.8554:0.0:0.0	14.899	0.70306	724	0.55085	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1553.98	34	chr1	25863026	.	C	T	1553.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=809;ExcessHet=0.0000;FS=2.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.02;ReadPosRankSum=0.033;SOR=1.037	GT:AD:DP:GQ:PL	0/1:42,55:97:99:1568,0,1062	20	0	1	0
chr1	26023293	26023293	G	A	exonic	EXTL1	.	nonsynonymous SNV	EXTL1:NM_004455:exon1:c.G647A:p.R216Q,	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.051	B	0.022	B	0.510	N	1.000	N	-0.145	N	-4.35	D	-0.210	T	0.633	D	0.044	0.412	6.236	-6.92	-1.549	-4.363	13.031	0.263	0.101766253771	.	.	0.0001	0	0	0	0	0.0001	0	0.0005	7.12e-05	11	154602	rs771066693	5.214e-05	5.267e-05	4.728e-05	5.714e-05	0.0004	4.249e-05	3.892e-05	0.0001	0.0001	9.174e-05	2.396e-05	0	2.558e-05	0	0.0004	4.416e-05	3.421e-05	0.0002	2.627e-05	2.625e-05	2.57e-05	2.686e-05	0.0004	8.14e-06	5.14e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0004	1.0	0.00964	T	0.927	0.02804	T	0.051	0.22415	B	0.022	0.19653	B	0.510213	0.11852	N	0.770595	1	0.08975	N	0.29	0.10111	N	-4.35	0.97292	D	0.76	0.01978	N	0.049	0.02088	-0.2105	0.77401	T	0.633	0.87151	D	10	0.015463591	0.00325	T	0.101766	0.77484	D	0.263	0.57612	0.32	0.29902	0.267755039894	0.26402	0.2226674367061911	0.22181	0.281142357773	0.30588	0.226198792458	0.01698	T	0.170151	0.51779	T	-0.327645	0.06291	T	-0.406694	0.32607	T	0.0214523867343527	0.00849	T	0.676632	0.28519	T	0.051662832	0.09523	0.061889414	0.12024	0.051662832	0.09522	0.061889414	0.12023	-3.321	0.14010	T	.	.	0.063	0.01534	B	.	.	0.424715	0.07954	4.663	0.81276852953659218	0.13606	0.01421	0.04793	N	AEFBI	0.070834	0.14076	N	-1.6376929058656	0.01088	0.04722194	-1.59944683305465	0.01658	0.07529994	0.999998766778202	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.38	-6.92	0.01485	-3.851000	0.00394	-5.664000	0.01638	-0.104000	0.15758	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.5276:0.0773:0.395:0.0	13.031	0.58251	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	1	0	0	0	0.02381	1065.98	34	chr1	26023293	.	G	A	1065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.03;DP=785;ExcessHet=0.0000;FS=3.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.92;ReadPosRankSum=0.056;SOR=0.782	GT:AD:DP:GQ:PL	0/1:27,36:63:99:1080,0,586	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	0|1:16,24,0:40:99:0|1:26282270_C_T:946,0,600,994,672,1666:26282270	0	9	4	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	11163.93	50	chr1	26282357	.	CTGGGGCCGGG	C,*	11163.93	.	AC=10,16;AF=0.238,0.381;AN=42;BaseQRankSum=0.187;DP=1169;ExcessHet=10.5502;FS=6.433;InbreedingCoeff=-0.4135;MLEAC=10,16;MLEAF=0.238,0.381;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.857;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,26,0:47:99:0|1:26282270_C_T:1029,0,804,1092,882,1974:26282270	1	0	7	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14396.36	49	chr1	26282374	.	ACC	*,A	14396.36	.	AC=10,12;AF=0.294,0.353;AN=34;BaseQRankSum=-8.440e-01;DP=1160;ExcessHet=1.0911;FS=8.398;InbreedingCoeff=-0.1667;MLEAC=11,13;MLEAF=0.324,0.382;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=0.737;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,26,0:50:99:0|1:26282270_C_T:1019,0,929,1092,1008,2099:26282270	1	0	5	4
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11324.73	50	chr1	26282386	.	GCCGGGA	*,G	11324.73	.	AC=12,10;AF=0.353,0.294;AN=34;BaseQRankSum=0.255;DP=1262;ExcessHet=1.0911;FS=8.945;InbreedingCoeff=-0.1667;MLEAC=13,11;MLEAF=0.382,0.324;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=2.17;SOR=0.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:26,0,25:51:99:0|1:26282270_C_T:972,1050,2086,0,1036,960:26282270	1	1	5	4
chr1	27393878	27393878	C	G	exonic	GPR3	.	nonsynonymous SNV	GPR3:NM_005281:exon2:c.C80G:p.A27G,	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.0	B	0.0	B	0.729	N	1.000	N	0.695	N	1.23	T	-1.021	T	0.045	T	0.093	-0.722	0.901	3.36	0.567	0.008	6.797	0.037	0.00726057483271	0.0012	0.00119808	0.0015	0.0002	0.0024	0	0.0006	0.0018	0	0.0018	0.0014618	226	154602	rs138953484	0.0018	0.0018	0.0018	0.0018	0.0022	0.0018	0.0017	0.0020	0.0019	0.0004	0.0022	0.0001	0	0.0007	0.0010	0.0020	0.0016	0.0015	0.0016	0.0016	0.0016	0.0017	0.0042	0.0015	0.0014	0.0034	0.0031	0.0004	0	0.0042	0	0	0.0005	0	0.0022	0.0033	0.0014	0.179	0.22053	T	0.36	0.16964	T	0.0	0.02946	B	0.0	0.01387	B	0.729138	0.06359	N	1.153230	1	0.08975	N	0.895	0.22405	L	1.23	0.36872	T	-0.48	0.15379	N	0.076	0.05037	-1.0207	0.23486	T	0.045	0.19397	T	10	0.0055892467	0.00124	T	0.007261	0.19253	T	0.037	0.09474	.	.	0.406120066682	0.40223	0.1735727624141538	0.17277	0.401579046037	0.41134	0.385993599892	0.23104	T	0.066	0.32909	T	-0.601775	0.00142	T	-0.643043	0.09449	T	0.00964939657668449	0.00126	T	0.485551	0.14815	T	0.058446955	0.11760	0.040383175	0.04352	0.058446955	0.11760	0.040383175	0.04352	-3.089	0.11170	T	.	.	0.076	0.05979	B	.	.	0.846619	0.12187	8.732	0.92882822506725715	0.22432	0.22870	0.21890	N	AEFDGBCIJ	0.082401	0.16684	N	-0.881558662294938	0.11282	0.5436027	-0.855565912410039	0.13153	0.6808289	0.999997795868609	0.74766	0.741868	0.97996	0	0.593476	0.48661	0	0.774882	0.98623	0	0.622129	0.49086	0	.	.	5.31	3.36	0.37579	0.306000	0.19030	1.072000	0.23814	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.146000	0.20164	0.1442:0.6985:0.0:0.1573	6.797	0.22915	641	0.64016	.	.	.	.	.	.	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	918.98	35	chr1	27393878	.	C	G	918.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.59;ReadPosRankSum=1.30;SOR=0.614	GT:AD:DP:GQ:PL	0/1:29,34:63:99:933,0,713	20	0	1	0
chr1	28593954	28593954	A	G	exonic	RAB42	.	nonsynonymous SNV	RAB42:NM_001193532:exon2:c.A494G:p.N165S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.685	M	-1.59	D	0.592	D	0.723	D	0.258	2.500	14.32	5.56	2.112	5.886	13.649	0.718	0.104812545182	.	.	1.685e-05	9.868e-05	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs776614667	6.157e-06	6.156e-06	4.084e-06	8.252e-06	0.0002	2.9e-06	2.1e-06	3.85e-06	1.44e-06	2.988e-05	0	0	2.519e-05	0	0.0002	3.598e-06	0	2.319e-05	2.636e-05	2.629e-05	3.864e-05	1.349e-05	9.687e-05	8.16e-06	5.15e-06	3.257e-05	1.92e-05	9.687e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.01	0.65728	D	.	.	.	.	.	.	0.000017	0.62929	D	0.000000	1	0.81001	D	2.55	0.74443	M	-1.59	0.82076	D	-4.77	0.80425	D	0.3	0.33904	0.592	0.91797	D	0.723	0.90503	D	10	0.92921495	0.92264	D	0.104813	0.77960	D	0.718	0.90011	0.878	0.96734	0.960128601513	0.95970	0.5420636660812783	0.54131	0.19818247753	0.22196	0.433256924152	0.29654	T	.	.	.	-0.0831432	0.39202	T	-0.175678	0.56922	T	0.735652446746826	0.42505	D	0.734827	0.35112	T	0.17302096	0.38026	0.26925507	0.52804	0.17302096	0.38025	0.26925507	0.52803	-7.366	0.56664	T	.	.	0.108	0.20586	B	.;.	.;.	2.788579	0.36647	20.3	0.99446774859298603	0.65071	0.95603	0.65383	D	AEFDGBHCI	0.795953	0.72323	D	0.663536502016085	0.77246	6.638245	0.580426263068646	0.73538	5.986777	0.999999999999921	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.26897	0.05253	2	0.664235	0.64389	0	.	.	5.56	5.56	0.83678	5.876000	0.69414	2.172000	0.31062	0.756000	0.94297	1.000000	0.71638	0.703000	0.26245	0.835000	0.39381	1.0:0.0:0.0:0.0	13.649	0.61775	501	0.75956	.;Small GTP-binding protein 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	1114.98	34	chr1	28593954	.	A	G	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=813;ExcessHet=0.0000;FS=1.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.29;MQRankSum=0.409;QD=10.62;ReadPosRankSum=-1.900e-01;SOR=0.929	GT:AD:DP:GQ:PL	0/1:63,42:105:99:1129,0,1606	20	0	1	0
chr1	33021406	33021406	C	T	exonic	AK2	.	nonsynonymous SNV	AK2:NM_001319142:exon3:c.G260A:p.S87N	Reticular dysgenesis, Autosomal recessive	.	0	1493	28	1	0	30	0.00994695	.	.	498579	not_provided|Reticular_dysgenesis|not_specified|AK2-related_disorder	MedGen:C3661900|MONDO:MONDO:0009973,MedGen:C0272167,OMIM:267500,Orphanet:33355|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.328	B	0.134	B	0.063	N	1.000	D	-0.265	N	-0.99	T	-0.701	T	0.151	T	0.173	1.260	10.11	4.43	1.575	2.910	10.866	0.128	0.0168867353057	0.0041	0.00219649	0.0042	0.0012	0.0006	0.0001	0.0006	0.0055	0.0011	0.0073	0.0043402	671	154602	rs61750965	0.0058	0.0058	0.0058	0.0058	0.0066	0.0057	0.0056	0.0065	0.0065	0.0010	0.0008	0.0062	2.519e-05	0.0004	0.0054	0.0066	0.0052	0.0056	0.0037	0.0037	0.0039	0.0036	0.0065	0.0035	0.0034	0.0060	0.0058	0.0014	0	0.0011	0.0081	0	0.0005	0	0.0065	0.0005	0.0035	0.464	0.09776	T	0.511	0.13832	T	0.0	0.33195	B	0.0	0.33146	B	0.063043	0.22053	N	0.591019	0.903657	0.81001	D	-0.69	0.01958	N	-0.99	0.76300	T	-0.2	0.13226	N	0.491	0.55886	-0.7014	0.60371	T	0.151	0.47962	T	10	0.013360918	0.00284	T	0.016887	0.38356	T	0.128	0.35103	.	.	0.648273525633	0.64535	0.4614190285344923	0.46059	0.175094801446	0.19712	0.410182654858	0.26482	T	0.162272	0.55157	T	-0.41274	0.01907	T	-0.360522	0.37994	T	0.0178057090999815	0.00509	T	0.940106	0.77361	D	0.11311202	0.26716	0.08396349	0.19281	0.12688412	0.29707	0.080425434	0.18192	-2.657	0.07379	T	.	.	0.151	0.39339	B	.;.;.;.;.	.;.;.;.;.	2.348688	0.30108	18.33	0.91303506057907224	0.20564	0.90869	0.52415	D	AEFGBI	0.216083	0.34136	N	-0.229406234226005	0.31931	1.795564	-0.0138875495912115	0.39088	2.312276	0.922964593518304	0.26726	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.35	4.43	0.52967	2.399000	0.44148	1.764000	0.28577	0.599000	0.40250	1.000000	0.71638	0.990000	0.31317	1.000000	0.97212	0.0:0.8531:0.0:0.1469	10.866	0.46063	542	0.72843	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	723.98	33	chr1	33021406	.	C	T	723.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.660e-01;DP=743;ExcessHet=0.0000;FS=1.141;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-2.570e-01;SOR=0.461	GT:AD:DP:GQ:PL	0/1:27,25:52:99:738,0,771	20	0	1	0
chr1	33635283	33635283	G	C	exonic	CSMD2	.	nonsynonymous SNV	CSMD2:NM_001281956:exon31:c.C5017G:p.P1673A	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	3.455	M	-0.32	T	0.356	D	0.611	D	0.69	5.011	29.5	5.89	2.793	9.869	19.245	0.629	0.0623443218659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.059545	1	0.81001	D	3.4	0.91674	M	-0.32	0.68181	T	-6.91	0.94196	D	0.898	0.89800	0.356	0.88432	D	0.611	0.86229	D	10	0.75367707	0.75823	D	0.062344	0.68622	D	0.629	0.85718	0.71	0.84601	0.869463876622	0.86819	0.7385871519057748	0.73803	.	.	0.701277554035	0.67328	T	0.261383	0.72276	T	0.201647	0.74047	D	0.051875	0.73708	D	0.998927772045135	0.95599	D	0.953705	0.83911	D	0.6545787	0.75608	0.6728191	0.80797	0.6545787	0.75609	0.6728191	0.80798	-11.804	0.87250	D	.	.	0.701	0.73198	P	.;.;.;.	.;.;.;.	4.845803	0.79160	27.0	0.99634456705093022	0.76264	0.98629	0.84891	D	AEFBCI	0.900919	0.84701	D	1.06646376622013	0.97461	16.16902	1.0156762686657	0.98908	19.83466	0.999999999999998	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.26897	0.05253	2	0.584449	0.35598	0	.	.	5.89	5.89	0.94758	10.003000	0.99689	9.945000	0.82685	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.245	0.93885	489	0.76795	.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1989.98	35	chr1	33635283	.	G	C	1989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.954e+00;DP=825;ExcessHet=0.0000;FS=2.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.92;ReadPosRankSum=0.581;SOR=1.018	GT:AD:DP:GQ:PL	0/1:41,84:125:99:2004,0,968	20	0	1	0
chr1	35554484	35554484	T	G	exonic	KIAA0319L	.	nonsynonymous SNV	KIAA0319L:NM_024874:exon2:c.A8C:p.K3T,	.	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.961	D	0.466	P	0.002	N	1.000	D	0.895	L	2.94	T	-0.760	T	0.138	T	0.353	3.861	19.61	5.68	2.164	1.596	13.675	0.064	0.0391095409404	0.0005	0.000199681	0.0005	0	0.0014	0	0	0.0006	0.0022	6.207e-05	0.0004916	76	154602	rs142411848	0.0005	0.0005	0.0005	0.0005	0.0172	0.0005	0.0005	0.0145	0.0135	0.0003	0.0013	0.0018	0	0	0.0172	0.0004	0.0012	0.0002	0.0006	0.0006	0.0005	0.0008	0.0031	0.0005	0.0005	0.0024	0.0022	0.0001	0	0.0031	0.0012	0	0	0.0170	0.0005	0.0009	0.0002	0.004	0.68238	D	0.019	0.92824	D	0.18	0.29046	B	0.06	0.26717	B	0.002470	0.36499	N	0.189317	0.901261	0.36177	D	0.895	0.22405	L	2.94	0.56114	T	-0.99	0.42001	N	0.319	0.35938	-0.7602	0.57394	T	0.138	0.45489	T	10	0.011908382	0.00258	T	0.03911	0.58617	D	0.064	0.18567	.	.	0.564020812232	0.56065	0.49099339918513485	0.49020	0.580763975337	0.53905	0.47840872407	0.35837	T	0.034302	0.23266	T	-0.351786	0.04616	T	-0.313471	0.43286	T	0.0520630710928339	0.05858	T	0.751425	0.37327	T	0.13507462	0.31361	0.10428756	0.25043	0.13507462	0.31361	0.10428756	0.25042	-3.618	0.18118	T	.	.	0.113	0.43666	B	.;.;.;.;.	.;.;.;.;.	2.900416	0.38441	20.7	0.99788454100363855	0.87484	0.86763	0.46114	D	ALL	0.266887	0.38371	N	0.152657693428742	0.48937	3.099971	0.259729722984921	0.53205	3.490595	0.99999999999982	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.685571	0.62057	0	0.525792	0.08840	0	.	.	5.68	5.68	0.88021	1.644000	0.36844	2.385000	0.32508	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	13.675	0.61926	370	0.84343	.;.;.;.;.	.	.	.	.	.	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	797.98	42	chr1	35554484	.	T	G	797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.074e+00;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.986;SOR=0.595	GT:AD:DP:GQ:PL	0/1:33,38:71:99:812,0,798	20	0	1	0
chr1	36089040	36089040	G	T	exonic	ADPRS	.	nonsynonymous SNV	ADPRS:NM_017825:exon1:c.G136T:p.V46F,	.	.	418	1103	1	0	0	1	0.000453104	.	.	1015728	Neurodegeneration,_childhood-onset,_stress-induced,_with_variable_ataxia_and_seizures|not_provided	MONDO:MONDO:0100095,MedGen:C4748527,OMIM:618170|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.981	D	0.825	P	0.001	N	1.000	D	2.455	M	1.55	T	-0.742	T	0.174	T	0.641	5.129	32	4.65	2.135	5.437	17.195	0.197	0.257770693612	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs749889837	3.253e-05	3.489e-05	3.415e-05	3.084e-05	0.0011	2.451e-05	2.178e-05	0.0005	0.0003	0	0	0	0	0	0.0011	2.097e-05	9.181e-05	0.0001	2.626e-05	2.625e-05	1.285e-05	4.027e-05	0.0002	8.14e-06	5.14e-06	2.257e-05	9.06e-06	0	0	0.0001	0	0	0	0.0034	0	0	0.0002	0.007	0.59928	D	0.306	0.19972	T	0.981	0.59675	D	0.825	0.59331	P	0.001313	0.39449	N	0.213391	0.999996	0.58761	D	2.28	0.64929	M	1.55	0.29866	T	-1.57	0.37955	N	0.618	0.63374	-0.7424	0.58329	T	0.174	0.51801	T	10	0.7178999	0.73467	D	0.257771	0.89382	D	0.197	0.47942	.	.	0.688106868972	0.68543	0.6384469848085935	0.63778	0.921772890521	0.71484	0.874318599701	0.93181	D	0.026146	0.19408	T	-0.00975929	0.50298	T	-0.251795	0.49639	T	0.755635440349579	0.43602	D	0.611339	0.23205	T	0.69003195	0.77513	0.4297266	0.66645	0.69003195	0.77515	0.4297266	0.66645	-3.854	0.21614	T	.	.	0.651	0.70974	P	.	.	4.912574	0.80845	27.4	0.99313942585234394	0.59129	0.57498	0.30392	D	ALL	0.420011	0.48700	N	0.632286899528451	0.75228	6.26886	0.59048987248702	0.74256	6.106278	1.0	0.98316	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.65	4.65	0.57626	2.827000	0.47813	11.321000	0.92526	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.195	0.86773	178	0.93097	.	.	.	.	.	.	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	536.98	33	chr1	36089040	.	G	T	536.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.060;DP=787;ExcessHet=0.0000;FS=2.117;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.14;ReadPosRankSum=0.258;SOR=0.580	GT:AD:DP:GQ:PL	0/1:41,25:66:99:551,0,1018	20	0	1	0
chr1	39511902	39511902	-	T	exonic	BMP8A	.	frameshift insertion	BMP8A:NM_181809:exon3:c.671_672insT:p.G225Rfs*66,	.	.	501	1020	1	0	0	1	0.000489956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260465601	3.009e-06	4.163e-06	2.018e-06	3.989e-06	3.076e-05	8e-07	2.2e-07	4.6e-07	1.7e-07	0	3.076e-05	0	0	0	0	2.753e-06	0	0	8.558e-06	1.332e-05	0	1.795e-05	9.395e-05	0	0	.	.	0	0	9.395e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	93.97	8	chr1	39511902	.	A	AT	93.97	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=298;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0267;MLEAC=1;MLEAF=0.024;MQ=27.00;MQRankSum=0.00;QD=10.44;ReadPosRankSum=-9.920e-01;SOR=0.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,3:9:99:0|1:39511902_A_AT:108,0,243:39511902	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|2:6,0,3:9:99:0|1:39511902_A_AT:108,126,378,0,252,243:39511902	0	12	8	0
chr1	40069786	40069786	C	T	exonic	CAP1	.	nonsynonymous SNV	CAP1:NM_001105530:exon9:c.C905T:p.A302V	.	.	431	1075	14	2	0	18	0.00830258	.	.	3298832	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.837	P	0.434	B	0.000	D	1.000	D	1.545	L	2.76	T	-1.184	T	0.041	T	0.438	4.846	27.6	5.59	2.640	3.665	18.598	0.101	0.00627107017972	0.0003	0.000199681	0.0005	0.0002	0.0003	0	0.0003	0.0005	0.0011	0.0012	0.0003946	61	154602	rs201677980	0.0004	0.0004	0.0004	0.0004	0.0069	0.0004	0.0004	0.0052	0.0046	0.0003	0.0009	0.0003	0	0.0004	0.0069	0.0003	0.0008	0.0008	0.0005	0.0005	0.0005	0.0005	0.0014	0.0004	0.0004	0.0010	0.0008	0.0002	0	0.0014	0	0	0.0006	0.0068	0.0005	0.0014	0.0010	0.01	0.56456	D	0.05	0.48336	T	0.837	0.46346	P	0.434	0.45506	B	0.000009	0.62929	D	0.111766	0.999705	0.50595	D	2.305	0.65957	M	2.76	0.11515	T	-2.01	0.46337	N	0.205	0.22998	-1.1838	0.00317	T	0.041	0.17615	T	10	0.038006812	0.02191	T	0.006271	0.16464	T	0.101	0.28911	.	.	0.350697349064	0.34675	0.34790820602998895	0.34704	0.342173482841	0.36152	0.506744980812	0.39768	T	0.068491	0.33471	T	-0.382951	0.02984	T	-0.394346	0.34044	T	0.0612388219738065	0.07363	T	0.770723	0.40088	T	0.27285254	0.50354	0.22329414	0.47203	0.27285254	0.50354	0.22329414	0.47202	-6.553	0.50800	T	.	.	0.075	0.10304	B	.;.;.;.;.;.	.;.;.;.;.;.	3.291997	0.45147	22.1	0.9990005796791841	0.97199	0.94855	0.62564	D	AEFBCI	0.805473	0.73005	D	0.285680783092782	0.55421	3.706285	0.40573520871201	0.61922	4.399274	0.999999999968951	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.59	5.59	0.84677	4.447000	0.59762	3.357000	0.37830	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.598	0.91192	334	0.86273	.;.;.;.;.;.	.	.	.	.	.	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	1281.98	33	chr1	40069786	.	C	T	1281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.626;DP=846;ExcessHet=0.0000;FS=3.077;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=0.00;QD=8.55;ReadPosRankSum=-1.205e+00;SOR=0.980	GT:AD:DP:GQ:PL	0/1:98,52:150:99:1296,0,2566	20	0	1	0
chr1	41513021	41513021	G	A	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon7:c.C6200T:p.S2067L	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.012	B	0.008	B	0.127	N	0.996	N	0.805	L	3.25	T	-0.973	T	0.013	T	0.524	3.049	16.17	3.65	2.267	3.444	3.788	0.110	0.00301279413164	.	.	8.473e-06	9.952e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs764272543	8.213e-06	8.209e-06	4.085e-06	1.238e-05	0.0009	4.38e-06	3.46e-06	0.0003	0.0002	2.987e-05	0	0	0	0	0.0009	2.699e-06	3.313e-05	1.16e-05	2.627e-05	2.627e-05	3.853e-05	1.345e-05	2.411e-05	8.14e-06	5.14e-06	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0.0010	0	0.34	0.29420	T	0.053	0.47336	T	0.012	0.16265	B	0.008	0.13708	B	0.127367	0.18770	N	0.390324	0.996389	0.23031	N	1.905	0.50856	L	3.22	0.07024	T	-1.52	0.36980	N	0.207	0.25622	-0.9733	0.36496	T	0.013	0.05177	T	10	0.092597336	0.16318	T	0.003013	0.06457	T	0.110	0.31079	.	.	0.18274738541	0.17906	0.34962550911170137	0.34876	0.239766953823	0.26521	0.449902534485	0.31931	T	0.198569	0.55559	T	-0.140293	0.29845	T	-0.439297	0.28888	T	0.572289049625397	0.35322	D	0.870713	0.57574	D	0.11398096	0.26914	0.06724581	0.13886	0.11398096	0.26913	0.06724581	0.13886	-5.41	0.41312	T	.	.	0.092	0.13362	B	.;.;.	.;.;.	3.669102	0.52162	23.2	0.99824448543016731	0.90677	0.31660	0.24393	N	AEFDBHI	0.054094	0.09806	N	-0.193649365890333	0.33398	1.894336	-0.0174438846248138	0.38927	2.300498	0.999787870971261	0.43007	0.562547	0.31514	0	0.653731	0.59785	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.65	3.65	0.40985	3.696000	0.54489	6.474000	0.55721	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.994000	0.71098	0.2185:0.2198:0.5617:0.0	3.788	0.08227	455	0.79073	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1069.98	52	chr1	41513021	.	G	A	1069.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.390e-01;DP=1290;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=0.648;SOR=0.710	GT:AD:DP:GQ:PL	0/1:44,42:86:99:1084,0,1123	20	0	1	0
chr1	41582286	41582286	G	A	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon3:c.C2512T:p.R838C	.	.	428	1090	4	0	0	4	0.0018315	.	.	3208506	HIVEP3-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.989	D	0.003	N	1.000	N	1.445	L	2.47	T	-1.111	T	0.051	T	0.354	2.272	13.55	2.08	0.284	2.229	6.570	0.089	0.0133525875099	0.0018	0.000998403	0.0005	0.0044	8.637e-05	0.0002	0	6.011e-05	0	0.0002	0.0004592	71	154602	rs147650565	0.0002	0.0002	0.0002	0.0002	0.0055	0.0002	0.0002	0.0048	0.0046	0.0055	6.708e-05	0	2.519e-05	0	0.0009	8.004e-05	0.0003	0.0002	0.0013	0.0013	0.0015	0.0012	0.0043	0.0012	0.0011	0.0037	0.0035	0.0043	0	0.0004	0	0.0002	0	0	0.0001	0.0028	0.0006	0.007	0.59928	D	0.003	0.76473	D	1.0	0.90584	D	0.989	0.78396	D	0.003450	0.34930	N	0.122763	0.999931	0.19363	N	1.5	0.37844	L	2.47	0.14783	T	-3.03	0.62747	D	0.711	0.71410	-1.1106	0.03019	T	0.051	0.21806	T	10	0.007449746	0.00169	T	0.013353	0.32685	T	0.089	0.25827	.	.	0.210429274316	0.20668	0.04876759845249928	0.04819	0.875281262772	0.69544	0.550227046013	0.45890	T	0.430851	0.77917	T	-0.485831	0.00685	T	-0.469272	0.25595	T	0.0523775674905097	0.05912	T	0.89801	0.64352	D	0.09723631	0.22918	0.077490754	0.17268	0.09723631	0.22918	0.077490754	0.17267	-5.161	0.38543	T	.	.	0.132	0.30686	B	.;.;.	.;.;.	4.008457	0.59116	24.1	0.99778025846802931	0.86519	0.87449	0.46992	D	AEFBI	0.443040	0.50051	N	-0.147233341610034	0.35353	2.029518	-0.266958410266916	0.29194	1.633669	0.869512958934658	0.25387	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.95	2.08	0.26079	2.319000	0.43447	8.236000	0.76844	-0.135000	0.12811	0.780000	0.29473	1.000000	0.68203	0.553000	0.30245	0.128:0.0:0.6149:0.2571	6.570	0.21731	486	0.77016	.;.;.	.	.	.	.	.	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	1571.98	47	chr1	41582286	.	G	A	1571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.708;DP=1423;ExcessHet=0.0000;FS=1.503;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=-8.460e-01;SOR=0.906	GT:AD:DP:GQ:PL	0/1:54,60:114:99:1586,0,1334	20	0	1	0
chr1	43185314	43185314	G	C	exonic	CFAP57	.	nonsynonymous SNV	CFAP57:NM_001167965:exon5:c.G927C:p.K309N	.	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.982	D	0.823	P	0.000	D	1.000	D	2.34	M	5.04	T	-1.050	T	0.055	T	0.237	3.867	19.65	4.6	1.442	3.617	15.114	0.092	0.0177960026669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.57480	T	0.085	0.62352	T	0.417	0.60036	B	0.146	0.59197	B	0.000015	0.62929	D	0.148658	0.932166	0.37013	D	.	.	.	5.04	0.07599	T	-3.32	0.67477	D	0.683	0.68950	-1.0499	0.14425	T	0.055	0.23148	T	10	0.60044765	0.66882	D	0.017796	0.39638	T	0.092	0.26621	0.414	0.45216	0.351830644314	0.34792	0.6133956691143212	0.61271	0.664706078156	0.59099	0.598727047443	0.52724	T	0.077114	0.37094	T	-0.186018	0.22845	T	-0.504979	0.21832	T	0.93964421749115	0.61128	D	0.908809	0.67676	D	0.3125587	0.54006	0.26802853	0.52667	0.3125587	0.54006	0.26802853	0.52666	-11.843	0.84077	D	.	.	0.654	0.72947	P	.;.;.	.;.;.	3.399237	0.47096	22.4	0.99865674415632377	0.94366	0.95377	0.64482	D	AEFBHI	0.582708	0.58222	D	0.30707194666685	0.56512	3.815917	0.33800274504075	0.57789	3.945942	0.0218598585358394	0.13384	0.533608	0.22052	0	0.547309	0.14657	0	0.685742	0.62368	0	0.620846	0.47308	0	.	.	5.53	4.6	0.56512	3.684000	0.54403	7.517000	0.59705	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0694:0.0:0.9306:0.0	15.114	0.72066	467	0.78285	.;.;.	.	.	.	.	.	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	1262.98	36	chr1	43185314	.	G	C	1262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.300;DP=828;ExcessHet=0.0000;FS=0.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=-1.750e-01;SOR=0.582	GT:AD:DP:GQ:PL	0/1:55,48:103:99:1277,0,1583	20	0	1	0
chr1	43997591	43997591	A	T	exonic	SLC6A9	.	nonsynonymous SNV	SLC6A9:NM_001328628:exon11:c.T1661A:p.I554N	Glycine encephalopathy with normal serum glycine, Autosomal recessive	.	401	1118	2	1	0	4	0.00178571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.062	B	0.048	B	0.410	N	1.000	N	0.69	N	-0.85	T	-0.904	T	0.218	T	0.214	1.474	10.87	3.78	0.878	1.292	7.453	0.080	0.0870378300563	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1306597378	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	1.315e-05	1.314e-05	1.285e-05	1.347e-05	1.471e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.471e-05	0	0	0.032	0.65419	D	0.038	0.57587	D	0.062	0.23277	B	0.048	0.24975	B	0.409680	0.13014	N	0.761895	1	0.08975	N	1.24	0.30952	L	-0.85	0.75670	T	0.22	0.04694	N	0.177	0.27316	-0.9038	0.47583	T	0.218	0.58020	T	10	0.10644546	0.19726	T	0.087038	0.74857	D	0.080	0.23350	0.33	0.31519	0.744711915001	0.74241	0.4602598930216467	0.45943	0.394754680351	0.40628	0.293832093477	0.09484	T	0.09711	0.39961	T	-0.0835986	0.39128	T	-0.35786	0.38300	T	0.282210350036621	0.24264	T	0.885811	0.61165	D	0.18816648	0.40303	0.11700958	0.28247	0.18816648	0.40303	0.11700958	0.28246	-2.667	0.08064	T	.	.	0.103	0.27493	B	.;.;.;.	.;.;.;.	1.852995	0.23538	16.06	0.97696397990667749	0.35406	0.43564	0.27126	N	AEFDBCI	0.201626	0.32827	N	-0.505921160137167	0.21887	1.164886	-0.38643136716891	0.25401	1.396654	0.851838979376939	0.25059	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.92	3.78	0.42629	0.846000	0.27335	1.619000	0.27677	0.726000	0.85437	0.039000	0.20931	0.002000	0.18203	0.982000	0.59238	0.7823:0.0:0.2177:0.0	7.453	0.26419	318	0.87072	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	856.98	34	chr1	43997591	.	A	T	856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.361e+00;DP=781;ExcessHet=0.0000;FS=1.063;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-4.000e-01;SOR=0.964	GT:AD:DP:GQ:PL	0/1:33,32:65:99:871,0,925	20	0	1	0
chr1	45004649	45004649	C	T	exonic	HECTD3	.	nonsynonymous SNV	HECTD3:NM_024602:exon16:c.G2093A:p.R698H,	.	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.019	B	0.005	B	0.000	D	0.881	D	0.385	N	0.36	T	-1.001	T	0.082	T	0.178	3.297	17.08	4.37	1.455	3.814	5.899	0.094	0.0111500303862	.	0.000199681	0.0004	0	0	0	0	1.498e-05	0	0.0028	0.0003234	50	154602	rs569133161	0.0002	0.0002	9.937e-05	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	5.974e-05	2.236e-05	0	0	0	0	2.068e-05	4.967e-05	0.0027	9.193e-05	9.186e-05	2.57e-05	0.0002	0.0023	5.524e-05	4.362e-05	0.0013	0.0010	0	0	6.534e-05	0	0	0	0	2.94e-05	0	0.0023	0.063	0.40832	T	0.128	0.34959	T	0.019	0.17989	B	0.003	0.11217	B	0.000050	0.53742	D	0.157919	0.881161	0.35754	D	0.75	0.19020	N	0.36	0.57880	T	-0.85	0.23156	N	0.386	0.42737	-1.0007	0.29717	T	0.082	0.32266	T	10	0.02718839	0.00869	T	0.01115	0.28477	T	0.094	0.27141	.	.	0.565829876908	0.56246	0.47747057384699326	0.47667	0.574900128254	0.53506	0.467984974384	0.34403	T	0.044201	0.26742	T	-0.446009	0.01192	T	-0.418985	0.31191	T	0.0447355173509131	0.04553	T	0.963204	0.88468	D	0.044747934	0.07206	0.046737257	0.06580	0.044747934	0.07206	0.046737257	0.06580	-4.81	0.39854	T	.	.	0.066	0.02670	B	.;.	.;.	3.977961	0.58453	24.0	0.99819453743191944	0.90238	0.82664	0.41861	D	AEFDBI	0.266359	0.38329	N	-0.18846380380078	0.33614	1.909029	0.001313075688796	0.39777	2.363624	0.190052159270769	0.17988	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.28	4.37	0.51830	3.935000	0.56272	1.813000	0.28978	0.589000	0.31548	1.000000	0.71638	0.998000	0.33993	0.997000	0.79791	0.0:0.6886:0.0:0.3114	5.899	0.18198	725	0.54935	.;HECT domain|HECT domain|HECT domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1721.98	34	chr1	45004649	.	C	T	1721.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=856;ExcessHet=0.0000;FS=0.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=-2.230e-01;SOR=0.778	GT:AD:DP:GQ:PL	0/1:69,70:139:99:1736,0,1562	20	0	1	0
chr1	46673263	46673263	C	T	exonic	TEX38	.	nonsynonymous SNV	TEX38:NM_001145474:exon2:c.C428T:p.S143F	.	.	428	1023	66	5	0	76	0.0358153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	0.00798722	0.0150	0.0014	0.0130	0	0.0185	0.0115	0.0122	0.0235	0.0030271	468	154602	rs139847766	0.0068	0.0065	0.0061	0.0074	0.0228	0.0066	0.0066	0.0219	0.0215	0.0009	0.0025	0.0170	8.394e-05	0.0214	0.0183	0.0051	0.0075	0.0228	0.0069	0.0069	0.0058	0.0081	0.0251	0.0065	0.0064	0.0214	0.0201	0.0010	0	0.0025	0.0159	0	0.0263	0.0204	0.0073	0.0052	0.0251	0.002	0.91255	D	0.004	0.74150	D	0.019	0.17989	B	0.022	0.19653	B	.	.	.	.	0.999999	0.08975	N	1.7	0.43825	L	-1.05	0.76690	T	-3.38	0.78135	D	0.059	0.08646	.	.	.	.	.	.	.	0.003181696	0.00053	T	.	.	.	.	.	.	.	.	.	0.3266098415028297	0.32573	.	.	0.371366500854	0.21029	T	0.049521	0.32485	T	-0.408703	0.02028	T	-0.341597	0.40164	T	.	.	.	0.553645	0.19140	T	0.24107373	0.47018	0.2824542	0.54233	0.24107373	0.47018	0.2824542	0.54232	-4.009	0.23938	T	.	.	0.137	0.30211	B	.;.;.	.;.;.	2.704225	0.35333	19.87	0.99672898469081317	0.78717	0.08995	0.14837	N	AEFDBCI	0.084133	0.17050	N	.	.	.	.	.	.	0.984711121805387	0.30763	0.498214	0.20090	0	0.379588	0.06130	0	0.514364	0.09456	0	0.711	0.71501	0	.	.	4.87	2.91	0.32903	0.783000	0.26463	1.811000	0.28962	0.524000	0.24156	0.003000	0.16062	0.092000	0.22550	0.618000	0.31844	0.1893:0.7116:0.0:0.0992	5.869	0.18039	186	0.92733	.;.;.	.	.	.	.	rs139847766	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5430.11	107	chr1	46673263	.	C	T	5430.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.41;DP=1964;ExcessHet=0.1072;FS=0.754;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=0.385;SOR=0.647	GT:AD:DP:GQ:PL	0/1:87,103:190:99:2848,0,2345	19	0	2	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|2:0,10,9:19:99:1|0:50419101_CCGGCGG_C:745,248,348,429,0,393:50419101	0	2	0	0
chr1	75761267	75761267	T	C	exonic	ACADM	.	nonsynonymous SNV	ACADM:NM_001286044:exon8:c.T524C:p.I175T	Acyl-CoA dehydrogenase, medium chain, deficiency of, Autosomal recessive	.	0	1501	21	0	0	21	0.00694674	.	.	98164	Inborn_genetic_diseases|Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008721,MedGen:C0220710,OMIM:201450,Orphanet:42|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.011	B	0.305	B	0.000	D	1.000	D	-1.62	N	-3.81	D	-0.409	T	0.391	T	0.769	1.404	10.63	5.3	2.127	3.770	14.384	0.581	0.0754163328048	0.0004	.	0.0004	0	8.637e-05	0	0	0.0005	0	0.0012	0.0003622	56	154602	rs150710061	0.0004	0.0004	0.0004	0.0005	0.0026	0.0004	0.0004	0.0016	0.0013	0.0002	0.0002	0.0012	0.0002	0	0.0026	0.0004	0.0005	0.0014	0.0003	0.0003	0.0003	0.0004	0.0005	0.0003	0.0002	0.0004	0.0003	9.646e-05	0	0.0002	0.0020	0.0002	0	0	0.0005	0.0005	0.0002	0.746	0.05002	T	0.631	0.07842	T	0.011	0.15914	B	0.021	0.41207	B	0.000000	0.84330	D	0.048394	0.999999	0.58761	D	-0.21	0.04010	N	-3.81	0.95728	D	-2.42	0.53096	N	0.367	0.46368	-0.4086	0.71755	T	0.391	0.74503	T	10	0.081932575	0.13467	T	0.075416	0.72282	D	0.581	0.83137	.	.	0.919890219729	0.91908	0.9337390151556569	0.93352	0.253000470629	0.27868	0.459393918514	0.33227	T	0.606579	0.94710	D	-0.0116757	0.50031	T	0.169919	0.81404	D	0.0464885197579861	0.04873	T	0.89581	0.63970	D	0.4626909	0.64838	0.2550065	0.51175	0.4657476	0.65029	0.2812008	0.54099	-4.405	0.29840	T	0.09664777496424153	0.06712	0.120	0.26855	B	.;.;.;.	.;.;.;.	3.018466	0.40391	21.2	0.86618063593244676	0.16657	0.93533	0.58476	D	AEFBI	0.738786	0.68355	D	-0.51731984107653	0.21519	1.142655	-0.21079234081159	0.31146	1.760027	0.993409396813185	0.33202	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.3	5.3	0.74745	3.734000	0.54760	1.914000	0.29665	0.665000	0.62972	1.000000	0.71638	0.966000	0.29516	0.995000	0.73285	0.0:0.0:0.0:1.0	14.384	0.66500	784	0.47045	Acyl-CoA dehydrogenase/oxidase C-terminal;Acyl-CoA dehydrogenase/oxidase C-terminal;Acyl-CoA dehydrogenase/oxidase 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	0.04762	2542.11	34	chr1	75761267	.	T	C	2542.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.410e-01;DP=864;ExcessHet=0.1072;FS=3.043;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=0.545;SOR=0.804	GT:AD:DP:GQ:PL	0/1:59,56:115:99:1334,0,1474	19	0	2	0
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|1:47,15:62:99:0|1:85158755_A_G:103,0,1262:85158755	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|1:47,15:62:99:0|1:85158755_A_G:103,0,1262:85158755	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	1/1:0,295,0,0:295:99:.:.:12557,889,0,12557,889,12557,12557,889,12557,12557	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	1/1:0,295,0,0:295:99:.:.:12557,889,0,12557,889,12557,12557,889,12557,12557	0	12	6	0
chr1	89191383	89191383	T	C	exonic	GBP4	.	nonsynonymous SNV	GBP4:NM_052941:exon6:c.A794G:p.D265G,	.	.	426	1081	15	0	0	15	0.00689022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.02	B	0.022	B	0.291	N	1.000	N	2.02	M	-1.12	T	-0.689	T	0.234	T	0.134	2.266	13.53	4.14	1.103	4.023	9.980	0.283	0.0432146992987	0.0003	0.000399361	0.0006	0.0002	8.637e-05	0	0	0.0005	0	0.0021	0.0004981	77	154602	rs201411513	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0002	0.0023	0.0021	2.987e-05	0	0.0023	0	0	0.0007	4.406e-05	0.0003	0.0025	0.0001	0.0001	6.424e-05	0.0002	0.0029	9.736e-05	8.252e-05	0.0018	0.0014	0	0	0	0.0023	0	0	0	0	0	0.0029	0.011	0.55530	D	0.001	0.83351	D	0.02	0.18235	B	0.022	0.19653	B	0.291093	0.14767	N	0.663946	1	0.08975	N	2.205	0.62170	M	-1.12	0.77593	T	-3.51	0.68298	D	0.401	0.44187	-0.6891	0.60950	T	0.234	0.60099	T	10	0.017451495	0.00373	T	0.043215	0.60869	D	0.283	0.60100	.	.	0.814452550499	0.81271	0.5009065058856161	0.50012	0.162938723387	0.18388	0.349341213703	0.17825	T	0.34834	0.71634	T	-0.403078	0.02210	T	-0.357318	0.38363	T	0.0709536894361799	0.08784	T	0.336266	0.07184	T	0.23761347	0.46627	0.20071071	0.44015	0.23761347	0.46627	0.20071071	0.44014	-4.947	0.36259	T	.	.	0.075	0.05711	B	.	.	3.002746	0.40130	21.1	0.97972601104124046	0.37261	0.84173	0.43256	D	AEFHCI	0.376549	0.46065	N	-0.348469870573523	0.27328	1.498502	-0.337186150245	0.26909	1.489528	0.924106724571239	0.26767	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.28	4.14	0.47821	5.781000	0.68615	2.886000	0.35360	0.650000	0.52971	0.994000	0.38300	0.268000	0.24029	0.001000	0.02609	0.1517:0.0:0.0:0.8483	9.980	0.40980	480	0.77422	Guanylate-binding protein, N-terminal|GB1/RHD3-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	2075.98	35	chr1	89191383	.	T	C	2075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.474;DP=919;ExcessHet=0.0000;FS=1.060;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.61;ReadPosRankSum=-3.200e-02;SOR=0.789	GT:AD:DP:GQ:PL	0/1:125,91:216:99:2090,0,3047	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|1:84,26:110:99:0|1:99884396_T_C:430,0,2705:99884396	4	0	17	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.043	B	0.045	B	0.000	D	0.997	D	0	N	1.65	T	-1.054	T	0.016	T	0.371	2.784	15.27	5.8	2.216	5.903	16.134	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3571	4473.53	34	chr1	99884400	.	T	C	4473.53	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.868e+00;DP=2293;ExcessHet=17.4423;FS=183.125;InbreedingCoeff=-0.5526;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.55;ReadPosRankSum=1.66;SOR=12.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,13:105:19:0|1:99884396_T_C:19,0,3598:99884396	6	0	15	0
chr1	100877750	100877750	C	G	exonic	EXTL2	.	nonsynonymous SNV	EXTL2:NM_001033025:exon3:c.G159C:p.R53S	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.976	D	0.541	P	0.000	D	1.000	D	1.04	L	0.57	T	-0.630	T	0.262	T	0.81	2.437	14.11	2.74	0.410	0.331	6.168	0.539	0.115086418452	.	.	3.307e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs753326651	1.163e-05	1.163e-05	4.086e-06	1.926e-05	0.0002	7.09e-06	5.79e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.56456	T	0.0	0.92824	D	0.976	0.58310	D	0.541	0.48869	P	0.000000	0.84330	D	0.040721	1	0.81001	D	2.175	0.60977	M	-1.71	0.83157	D	-0.9	0.37375	N	0.775	0.80180	-0.6300	0.63571	T	0.262	0.63264	T	10	0.30724275	0.48228	T	0.115086	0.79415	D	0.539	0.80723	0.377	0.39156	0.911176253122	0.91028	0.6265749759977755	0.62590	0.629891857601	0.57002	0.450323045254	0.31988	T	0.103402	0.50500	T	0.0243936	0.54972	T	0.071563	0.75014	D	0.25772624040479	0.23215	T	0.923708	0.72135	D	0.18520439	0.39872	0.096571505	0.22951	0.18520439	0.39872	0.096571505	0.22950	-3.076	0.11022	T	.	.	0.698	0.74405	P	.;.;.;.;.	.;.;.;.;.	3.226129	0.43974	21.8	0.99327390622583178	0.59622	0.85468	0.44603	D	AEFBI	0.454181	0.50700	N	-0.15422307771413	0.35055	2.008738	-0.170000328064226	0.32646	1.859418	0.0097745839575	0.11911	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.61	2.74	0.31352	0.238000	0.17782	0.553000	0.19438	-0.202000	0.08738	0.989000	0.36753	0.997000	0.33255	0.585000	0.31016	0.1304:0.6651:0.0:0.2045	6.168	0.19615	618	0.66225	.;.;.;.;.	.	.	.	.	.	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	44	chr1	100877750	.	C	G	1704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.189;DP=888;ExcessHet=0.0000;FS=0.567;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=-1.470e+00;SOR=0.770	GT:AD:DP:GQ:PL	0/1:99,73:172:99:1719,0,2583	20	0	1	0
chr1	102987714	102987714	T	A	exonic	COL11A1	.	nonsynonymous SNV	COL11A1:NM_080630:exon28:c.A2073T:p.R691S	Fibrochondrogenesis 1, Autosomal recessive;Marshall syndrome, Autosomal dominant;Stickler syndrome, type II, Autosomal dominant	.	1	1505	14	2	0	18	0.00594452	.	.	1192668	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.989	D	0.985	D	0.000	D	1.000	D	0.455	N	-3.24	D	0.284	D	0.655	D	0.753	2.933	15.77	2.07	0.320	0.400	7.835	0.334	0.25784655461	7.7e-05	.	0.0002	0	0.0003	0	0	0.0001	0.0011	0.0012	0.000207	32	154602	rs367824632	0.0001	0.0001	9.804e-05	0.0002	0.0021	0.0001	0.0001	0.0012	0.0010	0	0.0001	0	0	0	0.0021	4.677e-05	0.0004	0.0012	9.856e-05	9.843e-05	3.856e-05	0.0002	0.0010	6.007e-05	4.88e-05	0.0004	0.0003	0	0	0.0003	0	0	0	0.0068	4.412e-05	0	0.0010	0.018	0.54683	D	0.048	0.49120	D	0.981	0.62824	D	0.966	0.76457	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.55	0.39271	L	-3.38	0.94161	D	-5.29	0.85247	D	0.729	0.73015	0.284	0.87307	D	0.655	0.87989	D	10	0.47946686	0.60343	T	0.257847	0.89385	D	0.701	0.89238	0.362	0.36711	0.953937375394	0.95344	0.6228879467726383	0.62221	0.132844441926	0.14965	0.650581121445	0.60068	T	0.77664	0.94066	D	-0.0362331	0.46506	T	0.134644	0.79196	D	0.238656729757201	0.22357	T	0.884712	0.62852	D	0.7395772	0.80268	0.5487358	0.73910	0.7395772	0.80269	0.5487358	0.73911	-11.089	0.82507	D	0.4499784665851495	0.53396	0.880	0.81464	P	.;.;.;.	.;.;.;.	3.853628	0.55844	23.7	0.99699287724562247	0.80522	0.76850	0.37725	D	AEFI	0.238912	0.36095	N	0.040174624420964	0.43691	2.657167	-0.00748090400738627	0.39375	2.333729	1.4249757725328E-5	0.02871	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.4	2.07	0.26004	0.127000	0.15617	2.289000	0.31947	0.609000	0.47794	0.988000	0.36536	1.000000	0.68203	0.976000	0.56436	0.0:0.2124:0.0:0.7876	7.835	0.28525	855	0.34697	.;.;.;.	.	.	.	.	.	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	1508.98	36	chr1	102987714	.	T	A	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.220e+00;DP=821;ExcessHet=0.0000;FS=2.415;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=1.26;SOR=0.997	GT:AD:DP:GQ:PL	0/1:56,58:114:99:1523,0,1447	20	0	1	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	1/1:0,33,0:33:99:1452,99,0,1452,99,1452	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	1/1:0,33,0:33:99:1452,99,0,1452,99,1452	1	11	8	0
chr1	113651063	113651063	G	A	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon14:c.G2297A:p.R766Q	.	.	.	.	.	.	.	.	.	.	.	2269698	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.801	P	0.000	D	1.000	D	2.495	M	0.94	T	-0.666	T	0.206	T	0.93	5.775	36	5.74	2.709	9.476	19.915	0.603	0.0236930914441	.	.	3.296e-05	0	0	0	0	4.496e-05	0	6.057e-05	2.59e-05	4	154602	rs759189272	1.026e-05	1.026e-05	1.225e-05	8.251e-06	0.0002	6.16e-06	4.89e-06	9.9e-06	3.7e-06	5.975e-05	0	0	0	0	0.0002	7.194e-06	4.967e-05	1.16e-05	6.574e-06	6.568e-06	0	1.346e-05	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	0.002	0.78490	D	0.057	0.46406	T	0.984	0.60733	D	0.761	0.56482	P	0.000002	0.62929	D	0.057674	1	0.81001	D	2.54	0.74080	M	0.94	0.43672	T	-3.68	0.72710	D	0.918	0.93605	-0.6663	0.61995	T	0.206	0.56417	T	10	0.8638822	0.85621	D	0.023693	0.46661	T	0.603	0.84345	0.641	0.77795	0.638864161757	0.63589	0.8468220707708334	0.84643	0.633953125668	0.57268	0.74421697855	0.73593	T	.	.	.	0.196565	0.73572	D	0.145206	0.79880	D	0.961109280586243	0.65989	D	0.980469	0.93870	D	0.67511666	0.76707	0.57093227	0.75154	0.67511666	0.76708	0.57093227	0.75154	-8.456	0.66869	D	.	.	0.476	0.65001	A	.;.;.;.	.;.;.;.	5.405543	0.90499	31	0.9995880411892395	0.99990	0.99005	0.89843	D	AEFDBI	0.904380	0.85460	D	0.854484214819364	0.89363	9.940585	0.864645898425114	0.93842	12.31859	1.0	0.98316	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.74	5.74	0.90070	9.602000	0.97623	11.872000	0.98601	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.915	0.97054	455	0.79073	.;PDZ domain|PDZ domain|PDZ domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1116.98	33	chr1	113651063	.	G	A	1116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=785;ExcessHet=0.0000;FS=0.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.44;ReadPosRankSum=-1.453e+00;SOR=0.588	GT:AD:DP:GQ:PL	0/1:63,44:107:99:1131,0,1570	20	0	1	0
chr1	114625318	114625318	A	G	exonic	DENND2C	.	nonsynonymous SNV	DENND2C:NM_198459:exon2:c.T667C:p.S223P	.	.	428	1012	81	1	0	83	0.0393925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.918	P	0.451	P	0.947	N	1.000	N	1.445	L	3.71	T	-0.963	T	0.009	T	0.372	1.213	9.922	1.08	0.807	0.846	1.844	0.054	.	0.0069	0.0127796	0.0083	0.0164	0.0035	0.0003	0.0009	0.0033	0.0121	0.0336	0.0076325	1180	154602	rs61481107	0.0050	0.0050	0.0041	0.0058	0.0322	0.0049	0.0048	0.0312	0.0308	0.0174	0.0040	0.0058	0.0004	0.0008	0.0192	0.0027	0.0065	0.0322	0.0074	0.0074	0.0066	0.0082	0.0267	0.0071	0.0069	0.0230	0.0216	0.0157	0	0.0059	0.0035	0.0004	0.0008	0.0068	0.0032	0.0090	0.0267	0.041	0.41915	D	0.27	0.22359	T	0.71	0.50838	P	0.43	0.46123	B	0.946909	0.08314	N	0.974000	1	0.08975	N	1.23	0.30720	L	3.7	0.08547	T	-0.11	0.09627	N	0.298	0.33687	-0.9632	0.38567	T	0.009	0.03183	T	10	0.0032031536	0.00054	T	.	.	.	0.054	0.15330	.	.	0.43965937752	0.43585	0.3305454103579607	0.32967	0.219717392512	0.24512	0.45200419426	0.32217	T	0.001868	0.01280	T	-0.522665	0.00424	T	-0.499174	0.22434	T	0.0252535699938177	0.01306	T	0.692631	0.30204	T	0.08959558	0.20938	0.11387794	0.27486	0.08959558	0.20938	0.11387794	0.27485	-1.336	0.03392	T	.	.	0.151	0.33296	B	.;.;.	.;.;.	2.615992	0.33986	19.50	0.98189797006152302	0.39018	0.41650	0.26704	N	AEFI	0.132841	0.25230	N	0.0123055205367606	0.42415	2.555	0.00698991770262013	0.40038	2.383225	0.00520476885531698	0.10862	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.2	1.08	0.19456	1.001000	0.29384	4.435000	0.43365	0.691000	0.84096	0.969000	0.34210	1.000000	0.68203	0.591000	0.31164	0.5201:0.114:0.0888:0.2771	1.844	0.02964	728	0.54609	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3935.11	33	chr1	114625318	.	A	G	3935.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.920e-01;DP=968;ExcessHet=0.1072;FS=0.883;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-5.290e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/1:83,76:159:99:1865,0,2230	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	0/1:115,35:159:99:108,0,1671	0	0	21	0
chr1	119755490	119755490	G	C	exonic	HMGCS2	.	nonsynonymous SNV	HMGCS2:NM_001166107:exon5:c.C998G:p.S333C	HMG-CoA synthase-2 deficiency, Autosomal recessive	.	0	1504	18	0	0	18	0.00594845	.	.	276465	3-hydroxy-3-methylglutaryl-CoA_synthase_deficiency|not_provided|not_specified	MONDO:MONDO:0011614,MedGen:C2751532,OMIM:605911,Orphanet:35701|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.002	N	1.000	D	1.885	L	-1.17	T	0.076	D	0.542	D	0.737	3.395	17.46	5.57	2.772	9.276	17.401	0.578	.	0.0004	0.00399361	0.0019	0.0002	0.0003	0	0	0.0002	0.0011	0.0127	0.0016753	259	154602	rs151328418	0.0010	0.0010	0.0006	0.0013	0.0128	0.0009	0.0009	0.0122	0.0120	0.0002	8.944e-05	7.652e-05	2.519e-05	0	0.0026	0.0002	0.0010	0.0128	0.0006	0.0006	0.0004	0.0009	0.0141	0.0005	0.0005	0.0114	0.0104	7.219e-05	0	0.0002	0	0	9.42e-05	0	0.0003	0.0009	0.0141	0.011	0.55530	D	0.017	0.60337	D	1.0	0.90584	D	0.998	0.88582	D	0.001595	0.38554	N	0.185657	0.999968	0.52935	D	2.23	0.63091	M	-1.17	0.78199	T	-2.28	0.50830	N	0.864	0.86404	0.076	0.83737	D	0.542	0.83122	D	10	0.013461292	0.00285	T	.	.	.	0.578	0.82968	.	.	0.914753015564	0.91389	0.47170183242617564	0.47089	0.509296270345	0.49072	0.528510212898	0.42824	T	0.541205	0.84295	D	-0.137979	0.30211	T	0.0400577	0.72932	D	0.0623311034081158	0.07531	T	0.854615	0.54143	D	0.6254988	0.74057	0.3769495	0.62805	0.57394576	0.71278	0.4756891	0.69618	-9.718	0.72699	D	0.24168275128639305	0.32738	0.171	0.38080	B	.;.	.;.	4.130297	0.61802	24.4	0.98637468825228192	0.44001	0.99315	0.94380	D	AEFGBI	0.972460	0.99427	D	0.730189148890773	0.81611	7.563106	0.679394563703988	0.80818	7.383954	0.999999999996283	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.57	5.57	0.84021	9.401000	0.96640	8.246000	0.76856	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.0:0.0:1.0:0.0	17.401	0.87350	786	0.46839	Hydroxymethylglutaryl-coenzyme A synthase C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1179.98	34	chr1	119755490	.	G	C	1179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=837;ExcessHet=0.0000;FS=2.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.29;ReadPosRankSum=2.000e-03;SOR=0.976	GT:AD:DP:GQ:PL	0/1:77,50:127:99:1194,0,2023	20	0	1	0
chr1	119926524	119926524	T	C	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_024408:exon24:c.A3980G:p.D1327G,	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	.	5	1401	110	6	0	122	0.0417237	.	.	138711	not_specified|not_provided|Hajdu-Cheney_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007057,MedGen:C0917715,OMIM:102500,Orphanet:955	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.86	T	0.101	B	0.061	B	0.028	U	0.640	D	-0.33	N	-2.83	D	-0.782	T	0.259	T	0.558	1.562	11.18	5.64	2.276	2.219	15.329	0.401	.	0.0050	0.0109824	0.0169	0.0015	0.0056	0.0004	0.0039	0.0109	0.0240	0.0642	0.0107825	1667	154602	rs61752484	0.0090	0.0091	0.0077	0.0104	0.0522	0.0089	0.0088	0.0509	0.0504	0.0012	0.0043	0.0051	0.0001	0.0027	0.0266	0.0068	0.0090	0.0522	0.0061	0.0061	0.0059	0.0062	0.0440	0.0057	0.0056	0.0392	0.0373	0.0016	0.0066	0.0040	0.0081	0	0.0027	0.0136	0.0074	0.0071	0.0440	0.411	0.10115	T	0.407	0.14679	T	0.101	0.25775	B	0.061	0.26820	B	0.028087	0.25656	U	0.187689	0.63999	0.32867	D	0.36	0.11994	N	-2.83	0.91249	D	-0.83	0.22727	N	0.233	0.26233	-0.7823	0.56172	T	0.259	0.62955	T	10	0.005875975	0.00132	T	.	.	.	0.401	0.71479	.	.	.	.	0.5572658966142893	0.55653	0.902817761121	0.70701	0.378910720348	0.22102	T	0.340968	0.70992	T	-0.255136	0.13476	T	-0.102017	0.63241	T	0.0107099988816602	0.00151	T	0.783822	0.42110	T	0.15419918	0.34914	0.12176654	0.29377	0.15419918	0.34914	0.12176654	0.29376	-4.607	0.32260	T	0.08702335474015384	0.05070	0.108	0.20391	B	.	.	3.766816	0.54085	23.4	0.96812852524452542	0.31195	0.90332	0.51424	D	AEFBI	0.296564	0.40637	N	-0.406180722580298	0.25253	1.369426	-0.157145179363137	0.33134	1.892235	0.999933978369673	0.46732	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	2.183000	0.42195	4.071000	0.41665	0.665000	0.62972	0.647000	0.28146	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	15.329	0.73896	825	0.40060	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2960.11	33	chr1	119926524	.	T	C	2960.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.089;DP=920;ExcessHet=0.1072;FS=3.752;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=0.664;SOR=0.941	GT:AD:DP:GQ:PL	0/1:42,58:100:99:1428,0,1056	19	0	2	0
chr1	121373993	121373993	A	T	exonic	SRGAP2C	.	nonsynonymous SNV	SRGAP2C:NM_001271872:exon6:c.A509T:p.Y170F	.	.	445	1076	1	0	0	1	0.000464468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.829e-06	4.771e-06	8.351e-06	0	3.374e-05	6.4e-07	2.4e-07	5.6e-06	2.09e-06	0	0	0	0	0	0	0	0	3.374e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547	0.59308	.	.	.	.	.	.	.	0.4279192	0.57298	T	.	.	.	.	.	.	.	0.132336055621	0.12781	0.30267656855456443	0.30180	.	.	.	.	.	0.417188	0.76991	T	0.139403	0.68269	D	0.0630961	0.74450	D	.	.	.	0.996	0.99770	D	0.12778415	0.29893	0.27610996	0.53553	0.12778415	0.29893	0.27610996	0.53552	-5.78	0.44400	T	.	.	0.213	0.48219	B	.;.	.;.	4.908852	0.80750	27.4	0.94860654708678882	0.25671	0.95928	0.66761	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0413265680525959	0.14479	0.139865	0.03177	0	0.097471	0.02872	0	0.175069	0.04249	0	0.344016	0.05766	0	0.757117	0.44945	2.35	2.35	0.28166	9.122000	0.93691	11.282000	0.91772	0.359000	0.20063	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	8.251	0.30884	976	0.04745	F-BAR domain;F-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	58.99	35	chr1	121373993	.	A	T	58.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.04;DP=420;ExcessHet=0.0000;FS=10.387;InbreedingCoeff=-0.0253;MLEAC=1;MLEAF=0.024;MQ=35.95;MQRankSum=-3.211e+00;QD=1.47;ReadPosRankSum=2.01;SOR=2.550	GT:AD:DP:GQ:PL	0/1:33,7:40:73:73,0,769	20	0	1	0
chr1	144436988	144436988	C	A	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon5:c.G400T:p.D134Y	.	.	421	1019	82	0	0	82	0.0386792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.214	B	0.159	B	.	.	0.993	N	.	.	4.05	T	-0.982	T	0.021	T	0.529	-1.236	0.056	-0.832	-1.695	0.153	2.650	0.239	0.00173396275964	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380003639	6.67e-05	0.0008	3.836e-05	9.469e-05	0.0002	5.505e-05	5.067e-05	5.739e-05	5.275e-05	6.954e-05	2.266e-05	0	7.861e-05	9.577e-05	0.0002	7.186e-05	1.878e-05	4.901e-05	8.14e-05	0.0010	7.933e-05	8.359e-05	0.0004	4.632e-05	3.619e-05	7.758e-05	3.166e-05	0.0001	0	6.769e-05	0	0	0	0	7.498e-05	0	0.0004	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.05	0.03092	T	.	.	.	0.247	0.27910	.	.	.	.	.	.	.	0.16393486	0.30683	T	.	.	.	.	.	.	.	.	.	0.03106088496578435	0.03055	.	.	.	.	.	0.233658	0.60051	T	.	.	.	.	.	.	.	.	.	0.712529	0.32403	T	.	.	.	.	.	.	.	.	-10.07	0.74330	D	.	.	0.173	0.40618	B	.;.;.	.;.;.	0.956282	0.13325	9.829	.	.	.	.	.	.	0.027387	0.02229	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.053000	0.11802	-20.000000	0.00162	0.201000	0.17923	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05263	230.55	33	chr1	144436988	.	C	A	230.55	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.83;DP=1577;ExcessHet=0.1072;FS=80.919;InbreedingCoeff=-0.0769;MLEAC=2;MLEAF=0.053;MQ=37.40;MQRankSum=-4.958e+00;QD=0.69;ReadPosRankSum=-1.094e+00;SOR=5.092	GT:AD:DP:GQ:PL	0/1:163,27:190:99:224,0,4519	17	0	2	2
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	0/1:129,26:155:25:.:.:25,0,4094	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	0/1:129,20:151:9:.:.:9,0,4097	6	0	14	1
chr1	145876168	145876168	G	A	exonic	ANKRD35	.	stopgain	ANKRD35:NM_001280799:exon5:c.C262T:p.R88X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs151076205	5.61e-05	5.678e-05	5.582e-05	5.639e-05	0.0002	4.61e-05	4.237e-05	0.0001	9.194e-05	0	0.0002	3.826e-05	7.557e-05	0	0	5.936e-05	3.312e-05	0	1.315e-05	1.313e-05	2.571e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.25253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	8.288158	0.97388	37	.	.	.	.	.	.	0.167881	0.29459	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.436000	0.34590	5.643000	0.49156	0.656000	0.54149	0.997000	0.40164	1.000000	0.68203	0.895000	0.43227	.	.	.	.	.	.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	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	1083.98	34	chr1	145876168	.	G	A	1083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.123;DP=823;ExcessHet=0.0000;FS=0.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-1.519e+00;SOR=0.573	GT:AD:DP:GQ:PL	0/1:45,44:89:99:1098,0,1121	20	0	1	0
chr1	146964967	146964967	G	A	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon11:c.G641A:p.S214N,	.	.	421	1088	13	0	0	13	0.00593878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.013	T	0.022	T	.	0.584	7.152	-1.92	-1.820	-3.207	2.594	0.023	0.000777120838498	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs587765598	0.0005	0.0005	0.0003	0.0007	0.0065	0.0005	0.0005	0.0061	0.0059	0	0.0002	0	0	1.873e-05	0.0039	0.0001	0.0006	0.0065	0.0003	0.0003	0.0002	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	2.503e-05	0	0.0003	0	0	0	0	0.0002	0.0010	0.0050	.	.	.	0.097	0.39190	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.174	0.20262	-0.9673	0.37754	T	0.012	0.04605	T	9	0.011872321	0.00258	T	7.77E-4	0.00588	T	.	.	0.483	0.56462	0.0482279557977	0.04254	0.009089681465782299	0.00871	.	.	.	.	.	.	.	.	-0.289581	0.09678	T	-0.653739	0.08694	T	0.0666254124198251	0.08169	T	0.930707	0.76258	D	0.039577477	0.05492	0.08988931	0.21048	0.039577477	0.05492	0.08988931	0.21047	-9.486	0.70772	D	.	.	0.200	0.42621	B	.;.;.;.;.	.;.;.;.;.	0.613225	0.09819	6.581	0.81185679621847973	0.13561	0.00094	0.00618	N	AEFI	0.024869	0.01609	N	-0.983354325499337	0.08958	0.4220871	-1.25323829152858	0.05083	0.2413656	5.90869656841733E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.08	-2.15	0.06705	-0.404000	0.07267	-9.600000	0.00800	0.272000	0.18543	0.002000	0.15269	0.000000	0.08366	0.004000	0.06068	0.192:0.0:0.326:0.482	2.537	0.04430	768	0.49510	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3795.11	51	chr1	146964967	.	G	A	3795.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.934;DP=1089;ExcessHet=0.1072;FS=1.355;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.60;MQRankSum=1.43;QD=12.16;ReadPosRankSum=1.12;SOR=0.800	GT:AD:DP:GQ:PL	0/1:100,82:182:99:2182,0,2698	19	0	2	0
chr1	148123871	148123871	C	A	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon6:c.G475T:p.V159F	.	.	422	1038	62	0	0	62	0.0289991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.009	B	0.004	B	.	.	1.000	N	2.14	M	3.91	T	-0.968	T	0.057	T	0.401	-0.942	0.357	.	0.107	-0.215	.	0.092	0.00142394010296	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207133286	0.0052	0.0054	0.0047	0.0058	0.0281	0.0051	0.0051	0.0240	0.0224	0.0008	0.0030	0.0281	0	0.0004	0.0281	0.0043	0.0072	0.0159	0.0043	0.0044	0.0041	0.0044	0.0175	0.0040	0.0039	0.0144	0.0133	0.0006	0	0.0046	0.0290	0.0004	0.0002	0.0476	0.0050	0.0063	0.0175	.	.	.	0.146	0.45744	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	2.71	0.79292	M	.	.	.	.	.	.	0.153	0.15749	-0.9683	0.37551	T	0.057	0.23866	T	7	0.004335612	0.00088	T	0.001424	0.02113	T	.	.	0.117	0.02508	0.199424873507	0.19547	0.03541266956653438	0.03488	.	.	.	.	.	0.098663	0.40270	T	-0.0594101	0.42998	T	-0.323115	0.42231	T	0.0688986951738973	0.08496	T	0.561144	0.20320	T	0.13022043	0.30391	0.19046506	0.42451	0.13022043	0.30390	0.19046506	0.42450	-9.878	0.73178	D	.	.	0.181	0.47708	B	.;.;.;.	.;.;.;.	1.778462	0.22614	15.69	0.48853896195317942	0.04111	0.00265	0.01446	N	AEFI	0.043442	0.06869	N	-0.876222276605691	0.11410	0.550476	-1.00334385492625	0.09711	0.4847502	1.0986060413411E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-0.060000	0.11669	-20.000000	0.00162	0.167000	0.17740	0.001000	0.13787	0.000000	0.08366	0.018000	0.11154	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1079.11	44	chr1	148123871	.	C	A	1079.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.48;DP=768;ExcessHet=0.1072;FS=2.897;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=35.18;MQRankSum=2.87;QD=11.99;ReadPosRankSum=0.546;SOR=1.028	GT:AD:DP:GQ:PL	0/1:29,17:46:99:474,0,861	19	0	2	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C	.	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	.	.	.	.	.	.	1.000	N	.	.	4.24	T	-0.912	T	0.002	T	0.328	-0.960	0.324	0.43	-1.589	-0.069	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	30341.43	581	chr1	149075685	.	C	A	30341.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.56;DP=9689;ExcessHet=43.6797;FS=6.799;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.24;MQRankSum=-6.707e+00;QD=3.24;ReadPosRankSum=-1.735e+00;SOR=1.328	GT:AD:DP:GQ:PL	0/1:393,84:477:99:1067,0,10698	1	0	20	0
chr1	150553995	150553995	C	T	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001288607:exon6:c.C1004T:p.P335L	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	1416245	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.007	B	0.003	B	.	.	1.000	N	0.805	L	0.48	T	-1.010	T	0.054	T	0.347	0.305	5.653	2.58	0.516	0.215	7.476	0.090	0.0163352836725	7.9e-05	.	5.882e-05	0.0001	0.0002	0	0	0	0	0.0002	3.88e-05	6	154602	rs373492306	4.248e-05	4.241e-05	3.272e-05	5.234e-05	0.0003	3.382e-05	3.07e-05	0.0002	0.0002	0.0001	4.489e-05	3.836e-05	0	0	0	1.979e-05	6.631e-05	0.0003	4.596e-05	4.592e-05	3.854e-05	5.373e-05	9.623e-05	2.108e-05	1.526e-05	3.243e-05	1.91e-05	9.623e-05	0	0	0	0	0	0	2.941e-05	0.0005	0	0.176	0.23271	T	0.031	0.59732	D	0.004	0.14184	B	0.001	0.08700	B	.	.	.	.	1	0.08975	N	1.3	0.32576	L	0.15	0.60734	T	-1.0	0.30555	N	0.213	0.37197	-1.0097	0.27012	T	0.054	0.22693	T	9	0.05783966	0.06707	T	0.016335	0.37549	T	0.090	0.26093	.	.	0.497280371566	0.49363	0.2504515315635002	0.24959	0.123774248639	0.13926	0.301840782166	0.10675	T	0.006203	0.05637	T	-0.302344	0.08439	T	-0.392638	0.34243	T	0.0139760605747963	0.00268	T	0.539146	0.18203	T	0.026439508	0.01702	0.027683752	0.00939	0.026439508	0.01702	0.027683752	0.00939	-4.202	0.26780	T	0.3393798290283838	0.43719	0.079	0.11220	B	.;.;.;.	.;.;.;.	1.656641	0.21132	15.06	0.48280188970837018	0.04016	0.19121	0.20536	N	AEFDBHCI	0.054864	0.10012	N	-1.02902219604766	0.08005	0.3738584	-1.0404645448547	0.08907	0.4402992	0.999999562748326	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.664235	0.64389	0	.	.	4.45	2.58	0.30011	0.517000	0.22539	2.704000	0.34183	-0.187000	0.09635	0.000000	0.06391	0.058000	0.21979	0.001000	0.02609	0.0:0.7359:0.1697:0.0944	7.476	0.26547	114	0.95383	.;.;.;.	.	.	.	.	.	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	1382.98	42	chr1	150553995	.	C	T	1382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.730e-01;DP=909;ExcessHet=0.0000;FS=1.634;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=1.85;SOR=0.542	GT:AD:DP:GQ:PL	0/1:41,56:97:99:1397,0,976	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|2:229,0,24:253:99:0|1:152214821_T_A:292,981,10477,0,9496,9424:152214821	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|2:229,0,24:253:99:0|1:152214821_T_A:292,981,10477,0,9496,9424:152214821	8	0	3	0
chr1	152216243	152216243	C	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G5386C:p.E1796Q,	.	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.0	B	0.0	B	.	.	1.000	N	0.2	N	4.75	T	-0.927	T	0.001	T	0.122	-0.037	3.823	-7.62	-3.576	-3.569	8.919	0.010	0.00161648153375	.	.	0.0004	0	0.0005	0	0	0.0001	0	0.0021	3.84e-05	1	26028	rs748246449	5.547e-06	0.0003	2.759e-06	8.365e-06	3.561e-05	2.39e-06	1.73e-06	9.46e-06	4.62e-06	0	0	0	0	0	0	4.543e-06	0	3.561e-05	1.38e-05	0.0003	2.692e-05	0	0.0002	2.29e-06	8.6e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	1.0	0.00964	T	0.637	0.07037	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	4.75	0.01589	T	0.6	0.02518	N	0.05	0.02179	-0.9271	0.44559	T	0.001	0.00287	T	9	0.00765118	0.00174	T	0.001616	0.02600	T	0.010	0.01040	0.189	0.09907	0.213573922156	0.20996	0.03444694823272597	0.03392	.	.	0.669062614441	0.62704	T	0.014008	0.12005	T	-0.626696	0.00100	T	-0.79081	0.02142	T	0.0203109833810443	0.00731	T	0.213579	0.02626	T	0.039061114	0.05324	0.03396393	0.02380	0.039061114	0.05324	0.03396393	0.02380	-7.355	0.56586	T	.	.	0.082	0.08560	B	.	.	-0.946216	0.00851	0.030	0.40433591077939218	0.02853	0.00051	0.00397	N	AEFGBI	0.015651	0.00309	N	-2.42481159441604	0.00024	0.001026232	-2.50540795925852	0.00022	0.0009924888	0.950111666264303	0.27879	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.81	-7.62	0.01154	-2.757000	0.00858	.	.	-6.787000	0.00002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3282:0.4572:0.2146:0.0	8.919	0.34763	569	0.70546	.	.	.	.	.	.	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	32.98	378	chr1	152216243	.	C	G	32.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.62;DP=5548;ExcessHet=0.0000;FS=0.945;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=30.04;MQRankSum=-1.038e+00;QD=0.08;ReadPosRankSum=-1.740e-01;SOR=0.994	GT:AD:DP:GQ:PL	0/1:382,40:422:47:47,0,11260	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	0/1:16,14,0,0:30:99:470,0,614,521,656,1177,521,656,1177,1177	3	4	8	2
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.992	D	0.986	D	0.000	D	0.999	D	1.31	L	.	.	-0.865	T	0.172	T	0.819	4.131	21.3	2.28	0.340	1.167	8.751	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2593.87	40	chr1	153760378	.	C	G	2593.87	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.650e+00;DP=2714;ExcessHet=17.4423;FS=282.183;InbreedingCoeff=-0.5203;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.34;ReadPosRankSum=0.949;SOR=11.919	GT:AD:DP:GQ:PL	0/1:58,36:94:99:223,0,796	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	1/1:0,46,0,0,0,0,0:46:99:2048,136,0,2050,138,2053,2050,138,2053,2053,2050,138,2053,2053,2053,2050,138,2053,2053,2053,2053,2050,138,2053,2053,2053,2053,2053	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	1/1:0,46,0,0,0,0,0:46:99:2048,136,0,2050,138,2053,2050,138,2053,2053,2050,138,2053,2053,2053,2050,138,2053,2053,2053,2053,2050,138,2053,2053,2053,2053,2053	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	1/1:0,46,0,0,0,0,0:46:99:2048,136,0,2050,138,2053,2050,138,2053,2053,2050,138,2053,2053,2053,2050,138,2053,2053,2053,2053,2050,138,2053,2053,2053,2053,2053	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	1/1:0,46,0,0,0,0,0:46:99:2048,136,0,2050,138,2053,2050,138,2053,2053,2050,138,2053,2053,2053,2050,138,2053,2053,2053,2053,2050,138,2053,2053,2053,2053,2053	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	1/1:0,46,0,0,0,0,0:46:99:2048,136,0,2050,138,2053,2050,138,2053,2053,2050,138,2053,2053,2053,2050,138,2053,2053,2053,2053,2050,138,2053,2053,2053,2053,2053	0	1	0	0
chr1	154984014	154984014	C	T	exonic	FLAD1	.	nonsynonymous SNV	FLAD1:NM_025207:exon1:c.C320T:p.P107L	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, Autosomal recessive	YES	428	1092	2	0	0	2	0.000914913	.	.	1896109	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.001	B	0.001	B	0.251	N	1.000	N	0.805	L	.	.	-1.009	T	0.028	T	0.123	2.089	12.94	2.38	0.184	0.238	6.518	0.016	0.00371213809853	.	.	6.764e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs773925274	4.261e-05	4.104e-05	4.03e-05	4.502e-05	0.0013	3.343e-05	3.057e-05	0.0006	0.0004	3.318e-05	0	0	0	0	0.0013	4.237e-05	5.372e-05	2.838e-05	3.946e-05	3.941e-05	2.571e-05	5.386e-05	6.553e-05	1.717e-05	1.13e-05	1.972e-05	1.125e-05	2.414e-05	0	6.553e-05	0	0	0	0	5.882e-05	0	0	0.024	0.47745	D	0.03	0.54159	D	0.001	0.07471	B	0.001	0.04355	B	0.251360	0.15503	N	0.612212	0.999996	0.20721	N	0.805	0.20218	L	.	.	.	-0.86	0.23372	N	0.082	0.24010	-1.0094	0.27105	T	0.028	0.11882	T	9	0.062817216	0.08091	T	0.003712	0.08589	T	0.016	0.02506	0.287	0.24601	0.273070737957	0.26916	0.2675779612000002	0.26670	0.221553845957	0.24691	0.356646716595	0.18896	T	0.018814	0.47004	T	-0.403192	0.02206	T	-0.601599	0.12678	T	0.118537467076708	0.14287	T	0.727427	0.34191	T	0.043680493	0.06851	0.05574188	0.09833	0.049635418	0.08842	0.0610476	0.11723	-4.91	0.35847	T	0.09742854458586857	0.06854	0.093	0.13923	B	.;.;.;.	.;.;.;.	2.303983	0.29484	18.14	0.92498191697090171	0.21934	0.07520	0.13534	N	AEFDGBHCI	0.105478	0.21074	N	-0.678909444457284	0.16624	0.8486005	-0.611741658396257	0.19191	1.028579	0.999999812695082	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.63	2.38	0.28415	-0.011000	0.12659	0.685000	0.20714	0.599000	0.40250	0.000000	0.06391	0.009000	0.19889	0.767000	0.36405	0.4407:0.4691:0.0:0.0902	6.518	0.21455	380	0.83728	.;.;.;.	.	.	.	.	.	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	1576.98	34	chr1	154984014	.	C	T	1576.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.280e-01;DP=813;ExcessHet=0.0000;FS=1.421;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=0.617;SOR=0.562	GT:AD:DP:GQ:PL	0/1:57,67:124:99:1591,0,1307	20	0	1	0
chr1	155250323	155250323	A	G	exonic	FAM189B	.	nonsynonymous SNV	FAM189B:NM_198264:exon6:c.T1175C:p.L392P	.	.	423	1059	38	2	0	42	0.0194444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.998	D	0.000	D	1.000	D	0	N	3.82	T	-0.779	T	0.009	T	0.668	4.104	21.1	4.21	1.917	2.601	11.607	0.146	.	0.0018	0.00658946	0.0203	0.0005	0.0063	0	0	0.0110	0	0.0350	0.0029819	461	154602	rs142630415	0.0050	0.0048	0.0040	0.0060	0.0323	0.0049	0.0048	0.0313	0.0309	0.0007	0.0017	0.0243	2.824e-05	0.0010	0.0130	0.0030	0.0057	0.0323	0.0037	0.0037	0.0033	0.0041	0.0326	0.0034	0.0033	0.0285	0.0269	0.0007	0.0275	0.0020	0.0261	0	0.0009	0	0.0031	0.0043	0.0326	0.027	0.46513	D	0.014	0.63918	D	0.997	0.70673	D	0.991	0.79672	D	0.000286	0.46274	D	0.000000	0.999995	0.58761	D	0.975	0.24501	L	3.82	0.03728	T	-0.11	0.15178	N	0.488	0.57433	-0.7789	0.56364	T	0.009	0.03448	T	10	0.0054880977	0.00121	T	.	.	.	0.146	0.38789	.	.	0.242244723065	0.23846	0.7644931943960813	0.76397	3.96447962958	0.99874	0.803799211979	0.82543	D	0.015217	0.12804	T	-0.380399	0.03098	T	-0.294818	0.45268	T	0.0244990517566369	0.01208	T	.	.	.	0.17293428	0.38012	0.25629476	0.51326	0.17293428	0.38011	0.25629476	0.51325	-3.986	0.24802	T	.	.	0.217	0.44643	B	.;.;.	.;.;.	4.672397	0.74688	26.2	0.99891294729488611	0.96513	0.76327	0.37426	D	AEFDBCI	0.499244	0.53301	N	0.323016245965236	0.57332	3.900123	0.341837613117233	0.58017	3.970009	0.999999994130709	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.581341	0.30212	0	0.714379	0.83352	0	.	.	4.21	4.21	0.48984	2.412000	0.44263	8.974000	0.78479	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	11.607	0.50292	41	0.97903	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	867.11	30	chr1	155250323	.	A	G	867.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.820e-01;DP=717;ExcessHet=0.1072;FS=0.890;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-2.590e-01;SOR=0.556	GT:AD:DP:GQ:PL	0/1:20,17:37:99:398,0,528	19	0	2	0
chr1	160681129	160681129	C	0	exonic	CD48	.	.	.	.	.	433	1028	11	0	50	61	0.00532172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1504.46	50	chr1	160681129	.	C	A,*	1504.46	.	AC=2,2;AF=0.048,0.048;AN=42;BaseQRankSum=2.28;DP=967;ExcessHet=0.6776;FS=7.137;InbreedingCoeff=-0.1053;MLEAC=2,2;MLEAF=0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=7.45;ReadPosRankSum=-7.970e-01;SOR=1.227	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:19,0,29:48:99:0|1:160681123_A_G:803,860,1423,0,563,475:160681123	17	0	2	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	0/1:210,44:254:9:9,0,5033	5	0	16	0
chr1	163338056	163338056	G	A	exonic	NUF2	.	nonsynonymous SNV	NUF2:NM_031423:exon7:c.G472A:p.A158T	.	.	435	1077	10	0	0	10	0.00462107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.11	B	0.002	B	0.021	N	0.732	N	0.665	N	1.49	T	-1.038	T	0.019	T	0.196	1.569	11.20	4.36	1.452	5.239	9.658	0.056	.	0.0056	0.00399361	0.0062	0.0013	0.0060	0.0003	0.0086	0.0086	0.0077	0.0018	0.0064229	993	154602	rs61747498	0.0076	0.0077	0.0079	0.0074	0.0144	0.0075	0.0075	0.0119	0.0110	0.0019	0.0074	0.0131	5.043e-05	0.0095	0.0144	0.0083	0.0089	0.0011	0.0068	0.0068	0.0070	0.0066	0.0091	0.0065	0.0063	0.0084	0.0081	0.0021	0	0.0091	0.0147	0.0002	0.0097	0.0308	0.0090	0.0128	0.0023	0.271	0.16574	T	0.196	0.27943	T	0.11	0.26188	B	0.002	0.06944	B	0.020652	0.26995	N	0.426890	0.950196	0.27882	N	1.295	0.32453	L	1.49	0.31470	T	-0.9	0.27052	N	0.473	0.51048	-1.0381	0.17893	T	0.019	0.07986	T	9	0.004669547	0.00098	T	.	.	.	0.056	0.15993	.	.	0.280987212366	0.27714	0.2285310054703231	0.22768	0.34996909367	0.36845	0.480750083923	0.36160	T	0.024178	0.18318	T	-0.527462	0.00398	T	-0.522477	0.20045	T	0.0253086485168266	0.01314	T	0.679032	0.29402	T	0.06431574	0.13634	0.060588412	0.11563	0.06431574	0.13634	0.060588412	0.11562	-4.31	0.28316	T	.	.	0.082	0.08899	B	.;.;.;.	.;.;.;.	2.834242	0.37373	20.5	0.92248390203346031	0.21627	0.90639	0.51982	D	AEFBI	0.372158	0.45790	N	-0.458680679781133	0.23447	1.259166	-0.312659966136449	0.27690	1.538263	0.824947325072669	0.24590	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.27	4.36	0.51643	5.643000	0.67569	6.504000	0.55790	-0.188000	0.09543	0.994000	0.38300	1.000000	0.68203	0.492000	0.28837	0.0934:0.0:0.9066:0.0	9.658	0.39100	868	0.31772	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1038.98	26	chr1	163338056	.	G	A	1038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.510e-01;DP=748;ExcessHet=0.0000;FS=3.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.03;ReadPosRankSum=-3.240e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:18,43:61:99:1053,0,342	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|2:0,53,24:77:99:1|0:175160809_TC_T:2720,992,820,1692,0,2163:175160809	2	5	6	0
chr1	180078637	180078637	C	T	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon29:c.C5942T:p.S1981L,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.799	P	0.261	B	0.001	N	0.994	D	1.995	M	0.54	T	-0.824	T	0.166	T	0.451	4.577	24.9	5.31	2.649	4.965	17.520	0.101	0.0634723097621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	1.368e-06	1.363e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.008	0.67890	D	0.704	0.41950	P	0.169	0.35248	B	0.001265	0.39594	N	0.000000	0.993519	0.41964	D	2.14	0.59869	M	0.54	0.54911	T	-2.38	0.52451	N	0.679	0.68603	-0.8238	0.53695	T	0.166	0.50421	T	9	0.38726968	0.54633	T	0.063472	0.68978	D	0.101	0.28911	0.296	0.26041	0.21174354426	0.20776	0.45306052014353937	0.45224	0.231282364471	0.25673	0.508765816689	0.40049	T	0.070376	0.33944	T	-0.0126414	0.49894	T	-0.255935	0.49230	T	0.9662846326828	0.67534	D	0.89611	0.63771	D	0.25079444	0.48084	0.27759776	0.53714	0.25079444	0.48084	0.27759776	0.53713	-4.241	0.27341	T	.	.	0.100	0.16929	B	.	.	4.467589	0.69589	25.4	0.99884655210029649	0.95970	0.94609	0.61725	D	AEFBI	0.473729	0.51830	N	0.374442236465178	0.60041	4.188835	0.448372364403884	0.64611	4.720474	0.998860083105356	0.37845	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.31	5.31	0.75063	5.012000	0.63775	7.609000	0.61840	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.520	0.87682	167	0.93508	.	.	.	.	.	.	Uncertain significance	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	1489.98	37	chr1	180078637	.	C	T	1489.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.912e+00;DP=819;ExcessHet=0.0000;FS=1.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=-1.410e+00;SOR=0.898	GT:AD:DP:GQ:PL	0/1:62,57:119:99:1504,0,1725	20	0	1	0
chr1	180941266	180941266	C	G	exonic	KIAA1614	.	nonsynonymous SNV	KIAA1614:NM_020950:exon7:c.C3140G:p.S1047W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.895	D	2.215	M	1.22	T	-0.369	T	0.296	T	0.739	3.440	17.64	5.21	2.413	0.638	15.668	0.241	0.121683183808	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772926484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000056	0.53742	D	0.078950	0.999997	0.58761	D	2.485	0.72352	M	1.22	0.51952	T	-5.97	0.91100	D	0.833	0.85132	-0.3694	0.72980	T	0.296	0.66726	T	9	0.33051717	0.50289	T	0.121683	0.80250	D	0.241	0.54641	0.183	0.09131	0.390531646278	0.38663	0.5785496500738829	0.57783	0.94884049527	0.72533	0.469298362732	0.34583	T	0.210369	0.57084	T	0.103707	0.64691	D	-0.0888089	0.64252	T	0.997300326824188	0.91240	D	0.879412	0.60266	D	0.836256	0.86341	0.75906074	0.85763	0.836256	0.86343	0.75906074	0.85764	-9.789	0.72638	D	.	.	0.686	0.72384	P	.;.;.	.;.;.	4.581825	0.72389	25.8	0.98892471714157504	0.48037	0.39880	0.26312	N	AEFDBI	0.228972	0.35257	N	0.295406756584982	0.55916	3.755669	0.163459919120869	0.47858	3.009945	0.999993514988286	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.21	5.21	0.72005	5.177000	0.64870	7.496000	0.59428	0.581000	0.30040	0.988000	0.36536	1.000000	0.68203	0.612000	0.31691	0.0:1.0:0.0:0.0	15.668	0.76997	785	0.46916	.;.;.	.	.	.	.	.	Uncertain significance	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	1326.98	36	chr1	180941266	.	C	G	1326.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.987;DP=843;ExcessHet=0.0000;FS=1.601;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=0.091;SOR=0.933	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1341,0,1220	20	0	1	0
chr1	180990039	180990039	C	T	exonic	STX6	.	nonsynonymous SNV	STX6:NM_001286210:exon3:c.G131A:p.R44Q	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.07	B	0.016	B	0.027	N	0.814	N	0.63	N	.	.	-0.958	T	0.092	T	0.288	0.824	8.319	4.47	1.272	1.279	11.975	0.018	0.00339814747694	.	.	8.24e-06	0	8.64e-05	0	0	0	0	0	6.5e-06	1	154602	rs752296738	1.437e-05	1.436e-05	8.168e-06	2.063e-05	5.797e-05	9.23e-06	7.84e-06	2.194e-05	1.43e-05	0	2.236e-05	0	2.519e-05	1.872e-05	0	8.094e-06	6.623e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	0.06802	T	0.601	0.07919	T	0.055	0.22733	B	0.01	0.14941	B	0.027162	0.25800	N	0.384560	0.54994	0.32124	D	1.085	0.27262	L	.	.	.	0.53	0.06026	N	0.255	0.30233	-0.9584	0.39479	T	0.092	0.35228	T	8	0.08572242	0.14500	T	0.003398	0.07633	T	0.018	0.03083	0.333	0.32005	0.597428455468	0.59422	0.2466887478777803	0.24582	0.0704899027279	0.07900	0.257763564587	0.04628	T	0.07316	0.34630	T	-0.19116	0.22086	T	-0.415511	0.31591	T	0.192994215670615	0.20019	T	0.919808	0.71260	D	0.044269055	0.07047	0.04257171	0.05100	0.044269055	0.07046	0.04257171	0.05100	-4.61	0.36182	T	.	.	0.064	0.02145	B	.;.	.;.	1.585878	0.20285	14.68	0.76876794332507226	0.11645	0.70775	0.34731	D	AEFDBI	0.077754	0.15672	N	-0.633056696578059	0.17957	0.9284763	-0.531666365190509	0.21295	1.151326	0.845390818403188	0.24944	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	4.47	0.53770	1.323000	0.33307	0.389000	0.17868	0.596000	0.33519	0.683000	0.28466	0.026000	0.21063	0.195000	0.21750	0.0:0.9189:0.0:0.0811	11.975	0.52376	793	0.45818	.;.	.	.	.	.	.	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	537.98	35	chr1	180990039	.	C	T	537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=744;ExcessHet=0.0000;FS=1.067;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=-1.515e+00;SOR=0.782	GT:AD:DP:GQ:PL	0/1:32,22:54:99:552,0,782	20	0	1	0
chr1	183647836	183647836	T	G	exonic	APOBEC4	.	nonsynonymous SNV	APOBEC4:NM_203454:exon2:c.A946C:p.I316L,	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.019	B	0.015	B	0.163	N	0.998	N	0.805	L	2.5	T	-1.008	T	0.023	T	0.192	0.266	5.440	-0.728	-0.037	-0.026	10.544	0.032	0.00417134733337	.	0.000199681	0.0001	0	0	0	0	0	0	0.0010	0.00011	17	154602	rs542021279	5.336e-05	5.336e-05	3.539e-05	7.15e-05	0.0008	4.344e-05	4.017e-05	0.0006	0.0006	2.987e-05	0	0	0	0	0.0002	0	0.0001	0.0008	1.969e-05	1.968e-05	1.285e-05	2.684e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.035	0.43708	D	0.057	0.46406	T	0.019	0.17989	B	0.015	0.17295	B	0.163236	0.17597	N	0.433325	0.99837	0.22200	N	2.015	0.55033	M	2.5	0.14408	T	-1.83	0.42957	N	0.225	0.25253	-1.0082	0.27479	T	0.023	0.09696	T	10	0.015645653	0.00328	T	0.004171	0.10026	T	0.032	0.07718	0.195	0.10705	0.0884992946249	0.08302	0.12355493305583413	0.12281	0.110268083258	0.12439	0.282755851746	0.07880	T	0.011071	0.09921	T	-0.545833	0.00309	T	-0.642333	0.09500	T	0.0383131094276905	0.03388	T	0.483452	0.14697	T	0.09709639	0.22883	0.11713601	0.28278	0.09709639	0.22882	0.11713601	0.28277	-3.165	0.12058	T	.	.	0.203	0.42720	B	.	.	0.879689	0.12528	9.058	0.86381792654258005	0.16498	0.27971	0.23425	N	AEFBI	0.152793	0.27754	N	-1.02986557261183	0.07988	0.373008	-1.03984096219561	0.08919	0.4410074	0.322466775747345	0.19398	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.15	-0.728	0.10599	-0.046000	0.11937	-0.395000	0.09449	-0.201000	0.08892	0.429000	0.26401	0.000000	0.08366	0.377000	0.26268	0.0:0.522:0.0:0.478	10.544	0.44238	698	0.58074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1766.98	107	chr1	183647836	.	T	G	1766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.20;DP=2001;ExcessHet=0.0000;FS=0.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-2.120e-01;SOR=0.783	GT:AD:DP:GQ:PL	0/1:77,62:139:99:1781,0,2161	20	0	1	0
chr1	185206667	185206667	C	G	exonic	SWT1	.	nonsynonymous SNV	SWT1:NM_001105518:exon13:c.C1876G:p.Q626E	.	.	441	1079	1	1	0	3	0.00138825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.622	P	0.183	B	0.003	N	0.682	N	1.79	L	2.15	T	-1.075	T	0.044	T	0.158	2.507	14.34	4.72	2.683	1.852	10.214	0.060	.	.	0.00279553	0.0023	0	8.721e-05	0.0001	0	0	0.0011	0.0164	0.0019146	296	154602	rs574089489	0.0009	0.0010	0.0005	0.0014	0.0149	0.0009	0.0009	0.0142	0.0140	6.005e-05	4.557e-05	0	2.534e-05	0	0.0003	3.608e-06	0.0014	0.0149	0.0004	0.0004	0.0002	0.0007	0.0139	0.0004	0.0003	0.0112	0.0102	0	0	0	0	0	0	0	0	0	0.0139	0.042	0.41637	D	0.022	0.57587	D	0.622	0.39964	P	0.183	0.35961	B	0.002602	0.36243	N	0.306169	0.682345	0.30267	N	2.205	0.62170	M	2.15	0.19311	T	-1.19	0.30346	N	0.214	0.24135	-1.0751	0.08328	T	0.044	0.18906	T	10	0.010387689	0.00231	T	.	.	.	0.060	0.17295	0.376	0.38994	0.381239546501	0.37731	0.322739464724848	0.32186	0.31532874122	0.33813	0.375013560057	0.21548	T	0.009948	0.09021	T	-0.536187	0.00353	T	-0.530648	0.19221	T	0.0279037426539749	0.01674	T	0.821518	0.48098	T	0.14677517	0.33583	0.1709339	0.39238	0.14677517	0.33583	0.1709339	0.39238	-8.655	0.65451	D	.	.	0.078	0.08224	B	.;.	.;.	2.732463	0.35768	19.98	0.98472776252036032	0.41873	0.81486	0.40880	D	AEFI	0.143060	0.26566	N	0.178793342352826	0.50180	3.210668	0.284518740532891	0.54636	3.627942	4.34003300652479E-5	0.03989	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.69	4.72	0.59248	2.048000	0.40903	4.832000	0.45208	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1508:0.7033:0.1459:0.0	10.214	0.42335	486	0.77016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1496.98	36	chr1	185206667	.	C	G	1496.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=839;ExcessHet=0.0000;FS=2.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=-1.170e+00;SOR=0.886	GT:AD:DP:GQ:PL	0/1:80,66:146:99:1511,0,1815	20	0	1	0
chr1	186308660	186308660	C	T	exonic	PRG4	.	nonsynonymous SNV	PRG4:NM_001127710:exon4:c.C2539T:p.L847F	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Autosomal recessive	.	10	1510	1	1	0	3	0.000992392	.	.	706937	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.38	T	0.919	P	0.605	P	0.578	N	1.000	N	1.32	L	3.56	T	-0.987	T	0.023	T	0.234	0.196	5.057	1.18	0.091	-0.331	4.963	0.033	.	.	0.00219649	0.0014	0	0.0003	0	0	0	0	0.0103	0.0012096	187	154602	rs371459140	0.0006	0.0006	0.0004	0.0009	0.0101	0.0006	0.0006	0.0095	0.0093	6.02e-05	6.767e-05	0	0.0002	0	0.0010	8.996e-07	0.0006	0.0101	0.0003	0.0003	0.0002	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	0	0	0	0	0	0	0	0	0	0.0089	0.323	0.32769	T	0.155	0.40747	T	0.868	0.50927	P	0.4	0.50945	B	0.577958	0.05518	N	1.290110	1	0.08975	N	1.4	0.35362	L	3.5	0.05440	T	-1.4	0.49846	N	0.065	0.03841	-0.9873	0.33273	T	0.023	0.09650	T	10	0.003922969	0.00075	T	.	.	.	0.033	0.08068	0.165	0.06955	0.0138822411134	0.00435	0.06158132568405617	0.06098	0.0373032422438	0.03956	0.184219866991	0.00139	T	0.026645	0.49848	T	-0.583923	0.00182	T	-0.602147	0.12631	T	0.0383185027328612	0.03389	T	0.311769	0.31676	T	0.046139937	0.07671	0.06960621	0.14688	0.06306345	0.13240	0.07173095	0.15394	-5.791	0.44513	T	.	.	0.136	0.39081	B	.;.;.;.;.	.;.;.;.;.	0.431606	0.08022	4.738	0.70690600210098298	0.09379	0.09022	0.14859	N	AEFDGI	0.579125	0.58006	D	-0.578555364354761	0.19596	1.026892	-0.765953158891994	0.15332	0.8057595	0.00323749631505505	0.10007	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.645665	0.59343	0	.	.	3.66	1.18	0.20058	-0.677000	0.05315	-0.314000	0.10017	-0.240000	0.07525	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1865:0.601:0.1297:0.0827	4.963	0.13425	259	0.89842	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	2328.98	80	chr1	186308660	.	C	T	2328.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.626;DP=1203;ExcessHet=0.0000;FS=0.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=0.174;SOR=0.788	GT:AD:DP:GQ:PL	0/1:81,85:166:99:2343,0,2233	20	0	1	0
chr1	200048386	200048386	C	G	exonic	NR5A2	.	nonsynonymous SNV	NR5A2:NM_001276464:exon4:c.C462G:p.N154K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	B	0.012	B	0.000	D	1.000	D	1.15	L	-3.26	D	-0.735	T	0.280	T	0.104	1.802	11.98	5.63	2.802	7.394	20.047	0.119	0.0756658382696	.	0.000599042	0.0002	0	0	0	0	0	0	0.0012	0.0001488	23	154602	rs545151830	6.977e-05	6.977e-05	3.811e-05	0.0001	0.0011	5.846e-05	5.457e-05	0.0009	0.0009	0	0	0	0	0	0	0	9.934e-05	0.0011	3.283e-05	3.281e-05	0	6.714e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.415	0.09989	T	0.97	0.02670	T	0.004	0.12183	B	0.012	0.16012	B	0.000004	0.62929	D	0.166245	0.999998	0.81001	D	1.385	0.34509	L	-3.26	0.93835	D	-0.64	0.21429	N	0.433	0.48872	-0.7353	0.58694	T	0.280	0.65199	T	9	0.045691073	0.03670	T	0.075666	0.72343	D	0.379	0.69696	0.415	0.45380	0.516550057871	0.51297	0.4154678131952565	0.41462	0.504936371297	0.48756	0.521727919579	0.41869	T	0.285074	0.65786	T	-0.266645	0.12135	T	-0.206235	0.54054	T	0.248596148318174	0.22810	T	0.929907	0.75759	D	0.20077105	0.42065	0.29530716	0.55562	0.20077105	0.42065	0.29530716	0.55561	-5.991	0.46514	T	.	.	0.425	0.60915	A	.;.;.	.;.;.	3.510174	0.49149	22.7	0.95601024372697851	0.27339	0.52784	0.29214	D	ALL	0.973116	0.99472	D	0.427758306943434	0.62953	4.520097	0.539234418560255	0.70653	5.536774	1.0	0.98316	0.446893	0.09132	0	0.563428	0.19063	0	0.47417	0.07244	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	7.517000	0.80687	7.568000	0.60641	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.047	0.97612	826	0.39940	.;.;.	.	.	.	.	.	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	3379.98	34	chr1	200048386	.	C	G	3379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.832;DP=1095;ExcessHet=0.0000;FS=2.037;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=0.140;SOR=0.822	GT:AD:DP:GQ:PL	0/1:135,133:268:99:3394,0,3611	20	0	1	0
chr1	201386873	201386876	CCCA	0	exonic	LAD1	.	.	.	.	.	409	980	89	5	39	138	0.0480816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3927.24	33	chr1	201386873	.	CCCA	C,*	3927.24	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=0.458;DP=1036;ExcessHet=0.3300;FS=1.817;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=1.49;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,47,0:96:99:.:.:1826,0,1884,1974,2026,4000	18	0	2	0
chr1	201386876	201386878	ACC	0	exonic	LAD1	.	.	.	.	.	410	979	40	2	91	135	0.021978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1948.11	33	chr1	201386876	.	ACC	A,*	1948.11	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=0.832;DP=1037;ExcessHet=0.3300;FS=1.817;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=5.99;ReadPosRankSum=0.785;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:49,0,47:96:99:.:.:1826,1974,4000,0,2026,1884	18	0	1	0
chr1	201488943	201488943	T	A	exonic	CSRP1	.	nonsynonymous SNV	CSRP1:NM_001193570:exon4:c.A323T:p.K108I	.	.	434	1061	27	0	0	27	0.012564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.973	D	0.895	P	0.000	D	1.000	D	2.275	M	0.75	T	-0.825	T	0.105	T	0.625	4.313	22.6	5.53	2.086	5.959	10.379	0.137	.	0.0012	0.0105831	0.0076	0.0007	0.0009	0.0296	0.0029	0.0019	0.0044	0.0297	0.0068498	1059	154602	rs3738283	0.0052	0.0052	0.0043	0.0061	0.0465	0.0051	0.0050	0.0447	0.0440	0.0005	0.0009	0.0016	0.0465	0.0017	0.0031	0.0023	0.0046	0.0312	0.0032	0.0033	0.0027	0.0038	0.0286	0.0030	0.0029	0.0247	0.0233	0.0005	0.0044	0.0007	0.0003	0.0263	0.0025	0	0.0022	0.0028	0.0286	0.052	0.43085	T	0.083	0.44702	T	0.068	0.23728	B	0.04	0.23831	B	0.000000	0.84330	D	0.044457	0.999993	0.58761	D	3.12	0.87914	M	0.75	0.50192	T	-2.26	0.59545	N	0.472	0.60579	-0.8250	0.53619	T	0.105	0.38390	T	10	0.0058401525	0.00130	T	.	.	.	0.137	0.36984	.	.	0.70693104076	0.70437	0.49026484260685355	0.48946	0.451572985527	0.44902	0.613706946373	0.54839	T	0.282317	0.65505	T	-0.315689	0.07257	T	-0.175191	0.56968	T	0.063099928941028	0.07647	T	0.975702	0.91674	D	0.29719242	0.52651	0.1889332	0.42211	0.29719242	0.52651	0.1889332	0.42210	-12.666	0.87941	D	.	.	0.721	0.73821	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.867239	0.79709	27.2	0.99486396034677693	0.67180	0.82777	0.41959	D	AEFBCI	0.892651	0.82980	D	0.298869076774726	0.56092	3.773414	0.39157591504516	0.61043	4.299257	0.999999999904671	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.53	5.53	0.82530	5.935000	0.69862	6.100000	0.53542	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0824:0.0:0.9176	10.379	0.43284	927	0.17636	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4435.68	34	chr1	201488943	.	T	A	4435.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.576e+00;DP=972;ExcessHet=0.3300;FS=7.525;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=0.228;SOR=0.432	GT:AD:DP:GQ:PL	0/1:57,52:109:99:1348,0,1571	18	0	3	0
chr1	203007553	203007553	C	T	exonic	TMEM183A	.	nonsynonymous SNV	TMEM183A:NM_001322955:exon1:c.C88T:p.H30Y	.	.	370	1146	6	0	0	6	0.00261097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.775	P	0.26	B	0.000	D	0.743	N	1.1	L	1.94	T	-1.063	T	0.042	T	0.295	3.191	16.68	5.34	2.496	1.614	12.807	0.039	0.0276143502092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.30235	T	0.137	0.33894	T	0.65	0.40644	P	0.134	0.33146	B	0.000393	0.44960	D	0.224693	0.74323	0.29713	N	1.61	0.41143	L	1.94	0.22678	T	-0.83	0.22727	N	0.348	0.38950	-1.0630	0.11021	T	0.042	0.18160	T	10	0.15943912	0.29957	T	0.027614	0.50408	D	0.039	0.10176	0.232	0.16005	0.043077524339	0.03247	0.13915312214276856	0.13838	0.827125518207	0.67455	0.792491734028	0.80822	T	0.007053	0.06470	T	-0.1577	0.27116	T	-0.464302	0.26132	T	0.917970359325409	0.57603	D	0.931307	0.74459	D	0.19378039	0.41102	0.25867394	0.51603	0.19378039	0.41102	0.25867394	0.51602	-3.997	0.23759	T	.	.	0.118	0.24192	B	.	.	3.288117	0.45079	22.1	0.98620983885288216	0.43771	0.77233	0.37951	D	ALL	0.354613	0.44663	N	0.175044126822749	0.50003	3.194633	0.289311736656459	0.54915	3.655199	0.999999999979867	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.34	5.34	0.75982	1.845000	0.38920	3.859000	0.40127	0.525000	0.24333	1.000000	0.71638	1.000000	0.68203	0.526000	0.29613	0.0:0.786:0.214:0.0	12.807	0.57003	753	0.51500	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1027.0	33	chr1	203007553	.	C	T	1027.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.980e-01;DP=742;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-4.070e-01;SOR=0.737	GT:AD:DP:GQ:PL	0/1:39,40:79:99:1041,0,1040	20	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.999	D	0.985	D	0.000	D	0.998	D	1.7	L	0.01	T	-0.652	T	0.334	T	0.955	4.229	22.0	5.98	2.837	2.643	14.830	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	2825.06	151	chr1	204444146	.	C	T	2825.06	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-4.450e+00;DP=2570;ExcessHet=7.7275;FS=223.489;InbreedingCoeff=-0.3719;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=1.73;ReadPosRankSum=1.35;SOR=12.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:134,48:182:99:.:.:197,0,2944	10	0	11	0
chr1	206010341	206010341	C	T	exonic	CTSE	.	nonsynonymous SNV	CTSE:NM_001910:exon9:c.G1033A:p.V345M,	.	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.006	B	0.002	B	0.228	N	1.000	N	0	N	0.4	T	-1.071	T	0.069	T	0.094	0.363	5.972	4.05	1.421	0.742	3.621	0.088	0.00438121497209	.	.	.	.	.	.	.	.	.	.	.	.	.	rs145069780	0.0027	0.0027	0.0027	0.0026	0.0032	0.0026	0.0026	0.0031	0.0031	0.0004	0.0007	0.0003	0.0005	0.0002	0	0.0032	0.0019	0.0019	0.0013	0.0013	0.0013	0.0012	0.0021	0.0011	0.0011	0.0018	0.0017	0.0003	0	0.0011	0.0003	0.0006	0.0004	0	0.0021	0.0014	0.0015	0.07	0.35349	T	0.106	0.37872	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.57575	T	0.17	0.05125	N	0.145	0.14622	.	.	.	.	.	.	.	0.04523146	0.03569	T	.	.	.	.	.	.	.	.	.	0.7419575988196351	0.74141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633837	0.24812	T	.	.	.	.	.	.	.	.	-4.205	0.26824	T	.	.	0.132	0.28406	B	.	.	2.436677	0.31353	18.72	.	.	.	.	.	.	0.040683	0.06085	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432000	0.21180	1.230000	0.25036	0.519000	0.23678	0.000000	0.06391	0.002000	0.18203	0.681000	0.33571	.	.	.	.	.	Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1072.98	38	chr1	206010341	.	C	T	1072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.070e-01;DP=793;ExcessHet=0.0000;FS=0.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=0.893;SOR=0.857	GT:AD:DP:GQ:PL	0/1:46,48:94:99:1087,0,1059	20	0	1	0
chr1	206203947	206203947	T	C	exonic	FAM72A	.	nonsynonymous SNV	FAM72A:NM_001317901:exon1:c.A49G:p.R17G	.	.	913	596	6	7	0	20	0.0165017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782683246	0.0082	0.0078	0.0076	0.0089	0.0296	0.0081	0.0080	0.0252	0.0236	0.0012	0.0059	0.0119	0.0236	0.0149	0.0296	0.0063	0.0092	0.0239	0.0065	0.0067	0.0061	0.0071	0.0190	0.0062	0.0061	0.0157	0.0144	0.0012	0	0.0052	0.0095	0.0132	0.0139	0.0350	0.0074	0.0071	0.0190	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.23	0.36872	T	-0.06	0.07882	N	0.288	0.32591	.	.	.	.	.	.	.	0.00577268	0.00129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524448	0.17180	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.42706	B	.;.	.;.	0.716609	0.10854	7.533	.	.	.	.	.	.	0.053696	0.09698	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.236000	0.09019	-1.473000	0.05360	0.490000	0.22344	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	.	.	.	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	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	309.17	15	chr1	206203947	.	T	C	309.17	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.050e-01;DP=260;ExcessHet=0.1072;FS=3.188;InbreedingCoeff=-0.0525;MLEAC=2;MLEAF=0.048;MQ=30.05;MQRankSum=-1.042e+00;QD=11.89;ReadPosRankSum=1.54;SOR=2.584	GT:AD:DP:GQ:PL	0/1:8,8:16:99:200,0,185	19	0	2	0
chr1	207472858	207472858	A	C	exonic	CR2	.	nonsynonymous SNV	CR2:NM_001006658:exon10:c.A1657C:p.T553P	Immunodeficiency, common variable, 7, Autosomal recessive	YES	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.992	D	.	.	0.970	D	3.645	H	-0.18	T	0.422	D	0.533	D	0.68	2.155	13.16	5.75	2.195	2.203	12.454	0.170	0.0530018782561	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282362435	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.61437	D	0.018	0.63918	D	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.970102	0.38774	D	3.55	0.93268	H	-0.18	0.65747	T	-3.75	0.74504	D	0.384	0.50056	0.422	0.89429	D	0.533	0.82704	D	9	0.616275	0.67723	D	0.053002	0.65297	D	0.450	0.75074	0.573	0.69695	0.898941663445	0.89793	0.7970443944825194	0.79657	0.768272729556	0.64638	0.380778610706	0.22367	T	0.584075	0.86425	D	0.0546687	0.58942	T	-0.0623946	0.66165	T	0.921129941940308	0.58062	D	0.705929	0.31637	T	0.6210581	0.73820	0.67675	0.81016	0.6210581	0.73821	0.67675	0.81017	-12.581	0.87565	D	.	.	0.235	0.55631	B	.;.;.	.;.;.	2.603545	0.33800	19.45	0.95228470884434446	0.26456	0.71691	0.35123	D	AEFBI	0.431529	0.49378	N	0.621729621380399	0.74551	6.151913	0.500178006453294	0.68004	5.160439	0.97477292502509	0.29572	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.75	5.75	0.90390	1.763000	0.38090	4.527000	0.43710	0.756000	0.94297	0.036000	0.20778	0.999000	0.35428	0.347000	0.25591	1.0:0.0:0.0:0.0	12.454	0.55031	808	0.43318	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1615.98	40	chr1	207472858	.	A	C	1615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-7.660e-01;SOR=0.705	GT:AD:DP:GQ:PL	0/1:70,58:128:99:1630,0,1892	20	0	1	0
chr1	209762624	209762624	A	C	exonic	TRAF3IP3	.	nonsynonymous SNV	TRAF3IP3:NM_001320143:exon4:c.A455C:p.Q152P	.	.	425	1091	5	1	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.34	B	0.071	B	0.798	N	1.000	N	1.39	L	0.88	T	-0.995	T	0.087	T	0.317	1.455	10.81	0.933	0.332	0.025	3.230	0.051	0.00641796823396	.	.	9.032e-06	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs758898235	2.037e-05	1.984e-05	1.575e-05	2.515e-05	0.0003	1.413e-05	1.216e-05	0.0002	0.0001	0	0	0	0	0	0	4.667e-06	7.092e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.63226	D	0.179	0.41742	T	0.167	0.28604	B	0.071	0.27960	B	0.798355	0.09343	N	0.895550	1	0.08975	N	1.845	0.48678	L	0.88	0.46777	T	-0.89	0.30140	N	0.421	0.47301	-0.9954	0.31191	T	0.087	0.33802	T	10	0.07760432	0.12267	T	0.006418	0.16899	T	0.051	0.14325	0.108	0.01928	0.243972157842	0.24002	0.25297468803993645	0.25211	0.197208296933	0.22091	0.246730059385	0.03431	T	0.010732	0.12197	T	-0.346349	0.04960	T	-0.470855	0.25425	T	0.0478996668457937	0.05126	T	0.70043	0.31009	T	0.161723	0.36200	0.10531293	0.25314	0.161723	0.36200	0.10531293	0.25313	-2.881	0.08955	T	.	.	0.070	0.04041	B	.;.;.;.	.;.;.;.	1.084198	0.14677	11.23	0.81683307876642886	0.13807	0.06489	0.12499	N	AEFGBCI	0.130445	0.24899	N	-0.797248067358207	0.13382	0.6588134	-0.87284335252994	0.12739	0.6570549	0.997492823695706	0.35680	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.74	0.933	0.18597	-0.212000	0.09323	1.068000	0.23780	0.691000	0.84096	0.000000	0.06391	0.924000	0.28388	0.049000	0.15107	0.6324:0.0:0.1949:0.1727	3.230	0.06345	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	1	0	0	0	0.02381	1848.98	54	chr1	209762624	.	A	C	1848.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.060e+00;DP=1005;ExcessHet=0.0000;FS=7.162;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=0.552;SOR=1.043	GT:AD:DP:GQ:PL	0/1:69,80:149:99:1863,0,1768	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|1:95,14:109:3:0|1:212100360_A_G:3,0,3571:212100360	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|1:95,14:109:3:0|1:212100360_A_G:3,0,3571:212100360	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|1:95,14:109:3:0|1:212100360_A_G:3,0,3571:212100360	14	0	7	0
chr1	212625949	212625949	G	A	exonic	FAM71A	.	nonsynonymous SNV	FAM71A:NM_153606:exon1:c.G1072A:p.A358T,	.	.	393	1128	1	0	0	1	0.000443066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	.	.	1.000	N	-0.69	N	3.9	T	-0.941	T	0.004	T	0.043	-0.772	0.754	-7.48	-3.048	-3.339	1.290	0.014	0.000659680171823	.	0.000199681	0.0002	9.825e-05	0.0005	0.0014	0	0	0.0011	0.0005	0.0001876	29	154602	rs550858036	8.619e-05	8.619e-05	8.304e-05	8.938e-05	0.0011	7.353e-05	6.903e-05	0.0008	0.0008	0.0002	0.0004	0	0.0011	3.746e-05	0.0002	3.597e-06	0.0002	0.0005	0.0001	0.0001	8.989e-05	0.0001	0.0021	7.082e-05	5.74e-05	0.0012	0.0009	2.404e-05	0	6.532e-05	0	0.0021	0	0	1.47e-05	0	0.0006	0.798	0.03134	T	0.806	0.03993	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.35	0.03145	N	3.9	0.03516	T	0.35	0.03761	N	0.026	0.00527	-0.9414	0.42394	T	0.004	0.01125	T	9	0.0050050616	0.00108	T	6.6E-4	0.00367	T	0.014	0.01968	0.087	0.00904	0.201204373187	0.19734	0.04612094333899607	0.04556	0.0672680960363	0.07519	0.206395626068	0.00667	T	5.61E-4	0.00225	T	-0.713419	0.00030	T	-0.853902	0.00911	T	0.0128701709109604	0.00220	T	0.291471	0.05330	T	0.027224785	0.01885	0.060480494	0.11525	0.027224785	0.01885	0.060480494	0.11524	-3.669	0.18861	T	.	.	0.069	0.03162	B	.	.	-0.867544	0.00981	0.039	0.59919996424945632	0.06338	0.00131	0.00809	N	AEFDBI	0.011633	0.00107	N	-2.27315871832495	0.00052	0.002246944	-2.33034608810934	0.00057	0.002491448	0.997591770832634	0.35797	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.74	-7.48	0.01216	-3.633000	0.00457	-3.962000	0.02425	-1.837000	0.00584	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1349:0.294:0.246:0.3251	1.290	0.01934	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	2361.98	71	chr1	212625949	.	G	A	2361.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.483;DP=1480;ExcessHet=0.0000;FS=1.291;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.64;ReadPosRankSum=0.378;SOR=0.591	GT:AD:DP:GQ:PL	0/1:60,91:151:99:2376,0,1328	20	0	1	0
chr1	214334267	214334267	G	T	exonic	SMYD2	.	nonsynonymous SNV	SMYD2:NM_020197:exon11:c.G1180T:p.G394C,	.	.	429	1061	32	0	0	32	0.0148561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.989	D	0.839	P	0.000	D	1.000	D	1.935	M	-0.08	T	-0.477	T	0.384	T	0.708	4.764	26.7	6.17	2.941	4.938	20.879	0.347	0.0246475474506	0.0012	0.00179712	0.0024	0.0004	0.0018	0	0	0.0016	0.0022	0.0095	0.0021927	339	154602	rs141849218	0.0016	0.0016	0.0013	0.0019	0.0104	0.0015	0.0015	0.0098	0.0096	0.0003	0.0013	0.0003	0	7.49e-05	0.0074	0.0011	0.0024	0.0104	0.0011	0.0011	0.0010	0.0012	0.0075	0.0009	0.0009	0.0055	0.0049	0.0003	0	0.0011	0	0.0002	0	0.0068	0.0013	0.0024	0.0075	0.113	0.28772	T	0.004	0.74150	D	0.989	0.62824	D	0.839	0.60107	P	0.000000	0.84330	D	0.045767	0.999984	0.81001	D	2.485	0.72352	M	-0.08	0.63911	T	-3.57	0.68999	D	0.686	0.69213	-0.4774	0.69462	T	0.384	0.73988	T	10	0.011113286	0.00244	T	0.024648	0.47637	T	0.347	0.66863	.	.	0.853526577216	0.85211	0.6862089810114786	0.68560	0.997451953507	0.74294	0.495258688927	0.38167	T	0.117304	0.43730	T	-0.208229	0.19630	T	-0.0639211	0.66057	T	0.0421018828007218	0.04074	T	0.920408	0.71216	D	0.7846071	0.82938	0.47182155	0.69378	0.7846071	0.82940	0.47182155	0.69378	-5.469	0.41578	T	.	.	0.398	0.59438	A	.	.	4.965701	0.82135	27.7	0.99699454157993372	0.80522	0.94898	0.62713	D	AEFDGBCIJ	0.864674	0.78354	D	0.721358354184708	0.81032	7.428307	0.751209301204187	0.86247	8.828641	0.999999999999031	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.645665	0.59343	0	.	.	6.17	6.17	0.99707	5.045000	0.64027	9.999000	0.83031	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.879	0.99870	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2244.98	37	chr1	214334267	.	G	T	2244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.310e-01;DP=976;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=-5.740e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/1:124,98:222:99:2259,0,3045	20	0	1	0
chr1	214384272	214384272	G	A	exonic	PTPN14	.	nonsynonymous SNV	PTPN14:NM_005401:exon13:c.C1583T:p.P528L,	Choanal atresia and lymphedema, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	3396542	Lymphedema-posterior_choanal_atresia_syndrome	MONDO:MONDO:0013324,MedGen:C3150875,OMIM:613611,Orphanet:99141	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	0.226	B	0.017	B	0.042	N	1.000	D	1.28	L	-0.47	T	-0.781	T	0.220	T	0.179	1.697	11.63	4.45	2.700	3.284	14.451	0.065	0.0115802114614	0.0003	.	0.0003	0	0.0019	0	0	0.0001	0	6.057e-05	0.000207	32	154602	rs141184727	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0002	0.0012	0.0011	0.0001	0.0015	0	2.519e-05	0	0	0.0002	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0006	0.0005	0.0001	0	0.0010	0	0	0	0	0.0001	0.0005	0	0.142	0.25457	T	0.223	0.25670	T	0.226	0.30455	B	0.017	0.18140	B	0.041982	0.23889	N	0.479026	0.907735	0.81001	D	0	0.06538	N	-0.47	0.70133	T	-2.5	0.54382	D	0.306	0.34552	-0.7811	0.56240	T	0.220	0.58292	T	10	0.026441962	0.00811	T	0.01158	0.29347	T	0.065	0.18881	.	.	0.535086823406	0.53158	0.34652647551607846	0.34566	0.321916192473	0.34392	0.386317938566	0.23150	T	0.557262	0.85116	D	-0.397691	0.02397	T	-0.368659	0.37046	T	0.0289103869605927	0.01824	T	0.886111	0.61235	D	0.05263426	0.09844	0.08048738	0.18210	0.05263426	0.09844	0.08048738	0.18210	-3.206	0.12554	T	.	.	0.081	0.08176	B	.	.	3.779654	0.54333	23.5	0.96419310502295397	0.29751	0.93481	0.58334	D	AEFGBI	0.229097	0.35267	N	-0.0635744158595301	0.38998	2.292826	0.0628461404821554	0.42697	2.587	0.999998569746001	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	4.45	0.53365	5.477000	0.66525	8.179000	0.76774	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.310000	0.24737	0.0:0.0:0.8538:0.1462	14.451	0.66961	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2370.98	39	chr1	214384272	.	G	A	2370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.05;DP=880;ExcessHet=0.0000;FS=1.878;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=1.97;SOR=0.872	GT:AD:DP:GQ:PL	0/1:102,83:185:99:2385,0,2461	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	0/1:151,46:197:99:292,0,3396	13	0	8	0
chr1	223625887	223625887	A	G	exonic	CAPN8	.	nonsynonymous SNV	CAPN8:NM_001143962:exon6:c.T731C:p.V244A,	.	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.026	B	0.117	B	0.086	U	0.905	D	0.47	N	2.48	T	-1.039	T	0.030	T	0.172	2.811	15.36	5.41	2.042	5.318	15.115	0.081	.	.	0.00219649	0.0008	0	0	0	0	0	0	0.0021	0.000207	32	154602	rs540681424	0.0001	0.0001	6.912e-05	0.0002	0.0019	0.0001	9.752e-05	0.0016	0.0015	0	0	0	0	0	0.0002	2.783e-06	0.0002	0.0019	0.0001	0.0001	9e-05	0.0002	0.0046	9.745e-05	8.259e-05	0.0031	0.0026	0	0	0	0	0	0	0	0	0	0.0046	0.046	0.40573	D	0.268	0.22494	T	0.026	0.19406	B	0.117	0.32014	B	0.086060	0.20608	U	0.379938	0.905291	0.36272	D	0.92	0.23413	L	2.48	0.14657	T	-3.17	0.70314	D	0.139	0.13769	-1.0391	0.17587	T	0.030	0.12717	T	10	0.008921564	0.00202	T	.	.	.	0.101	0.28911	0.602	0.73346	0.356484672536	0.35262	0.392800566529341	0.39195	0.00202084466576	0.00170	0.430593192577	0.29289	T	0.360273	0.72654	T	-0.54119	0.00330	T	-0.556942	0.16665	T	0.149861987096167	0.17092	T	0.678632	0.30396	T	0.33183846	0.55621	0.39921564	0.64490	0.33183846	0.55621	0.39921564	0.64490	-7.157	0.55172	T	.	.	0.133	0.38227	B	.;.;.	.;.;.	3.692421	0.52622	23.3	0.98886328333658202	0.47912	0.98656	0.85210	D	AEFDBI	0.786576	0.71662	D	-0.104029718464215	0.37215	2.162095	0.0755534205834351	0.43324	2.63643	0.999999817538588	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.41	5.41	0.78313	5.305000	0.65541	3.125000	0.36417	0.756000	0.94297	1.000000	0.71638	0.971000	0.29754	0.691000	0.33868	1.0:0.0:0.0:0.0	15.115	0.72066	910	0.22284	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1781.98	37	chr1	223625887	.	A	G	1781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.463;DP=907;ExcessHet=0.0000;FS=7.221;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=2.10;SOR=0.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,69:128:99:0|1:223625884_G_T:1796,0,1545:223625884	20	0	1	0
chr1	225085715	225085715	A	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon21:c.A3499G:p.I1167V,	.	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.002	B	0.006	B	0.236	N	1.000	N	1.12	L	2.52	T	-1.046	T	0.108	T	0.083	-0.177	3.137	-1.59	-0.486	-0.216	0.425	0.078	0.017309674527	.	0.000399361	0.0013	0.0005	0	0	0	0	0	0.0034	0.0002005	31	154602	rs535960241	0.0002	0.0002	0.0001	0.0003	0.0036	0.0002	0.0002	0.0032	0.0031	0	0	0	0	0	0	9.27e-07	0.0002	0.0036	0.0001	0.0001	0.0001	0.0001	0.0033	7.086e-05	5.743e-05	0.0021	0.0017	2.405e-05	0	0	0	0	0	0	0	0	0.0033	0.956	0.18626	T	0.28	0.28860	T	0.002	0.09854	B	0.006	0.12133	B	0.235586	0.15825	N	0.471075	1	0.08975	N	.	.	.	2.52	0.62762	T	-0.43	0.18042	N	0.073	0.11340	-1.0458	0.15592	T	0.108	0.39197	T	10	0.0030287504	0.00050	T	0.01731	0.38957	T	0.078	0.22779	0.525	0.62967	0.0297737177859	0.01360	.	.	.	.	0.373464286327	0.21328	T	0.005337	0.04790	T	-0.580325	0.00192	T	-0.607212	0.12212	T	0.0198448896704715	0.00686	T	0.355564	0.09261	T	0.023276893	0.01054	0.028390275	0.01071	0.023276893	0.01053	0.028390275	0.01071	-4.786	0.40678	T	.	.	0.117	0.23640	B	.;.;.	.;.;.	0.437977	0.08080	4.808	0.62272201674341998	0.06920	0.01515	0.05004	N	AEFBI	0.039281	0.05682	N	-1.0265389411727	0.08055	0.3763929	-1.0537925509038	0.08628	0.4251534	1.97345323872852E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.28	-1.59	0.08003	-0.229000	0.09106	-0.671000	0.07934	0.709000	0.85303	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.308:0.1223:0.2135:0.3561	0.425	0.00431	685	0.59416	.;.;.	.	.	.	.	.	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	1880.98	46	chr1	225085715	.	A	G	1880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.000e-03;DP=1021;ExcessHet=0.0000;FS=0.578;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-5.900e-02;SOR=0.794	GT:AD:DP:GQ:PL	0/1:82,82:164:99:1895,0,1911	20	0	1	0
chr1	225353860	225353860	A	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.A11591G:p.K3864R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.112	B	0.061	B	.	.	1.000	D	.	.	3.13	T	-0.960	T	0.017	T	0.139	2.173	13.22	4.96	1.975	1.458	12.415	0.042	0.0424221383888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0016	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	6.329e-05	0	0.0004	0.0005	0	0.0003	0.0002	6.899e-05	0	2.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.304	0.14303	T	0.086	0.40909	T	0.112	0.26290	B	0.061	0.26820	B	.	.	.	.	1	0.81001	D	.	.	.	3.13	0.08014	T	-1.32	0.32991	N	0.141	0.17140	-0.9601	0.39162	T	0.017	0.06759	T	8	0.075534165	0.11687	T	0.042422	0.60457	D	0.042	0.11227	0.473	0.54859	0.233150807113	0.22925	.	.	.	.	0.547701478004	0.45533	T	.	.	.	-0.290318	0.09604	T	-0.654798	0.08622	T	0.429603158532435	0.30046	T	0.441056	0.12198	T	.	.	.	.	.	.	.	.	-5.073	0.37622	T	.	.	.	.	.	.;.	.;.	2.621798	0.34075	19.52	0.98831738548241499	0.46969	0.78159	0.38520	D	AEFI	0.292450	0.40332	N	-0.1412954714505	0.35606	2.047334	0.0119223341972131	0.40267	2.400417	0.496201815749716	0.20905	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	1.434000	0.34567	3.589000	0.39183	0.709000	0.85303	0.997000	0.40164	0.992000	0.31684	0.992000	0.67800	1.0:0.0:0.0:0.0	12.415	0.54820	620	0.66037	.;.	.	.	.	.	.	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	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,8,0,0:64:31:0|1:225353860_A_G:31,0,2028,198,2051,2249,198,2051,2249,2249:225353860	12	0	5	2
chr1	225353861	225353862	AC	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon73:c.11592_11593del:p.K3864Nfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,8,0,0:64:31:0|1:225353860_A_G:31,0,2028,198,2051,2249,198,2051,2249,2249:225353860	12	0	5	2
chr1	225353860	225353862	AAC	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,8,0,0:64:31:0|1:225353860_A_G:31,0,2028,198,2051,2249,198,2051,2249,2249:225353860	12	0	5	2
chr1	225353861	225353861	A	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	464.81	81	chr1	225353861	.	A	G,*	464.81	.	AC=5,2;AF=0.147,0.059;AN=34;BaseQRankSum=-1.464e+00;DP=1141;ExcessHet=2.7391;FS=185.320;InbreedingCoeff=-0.2299;MLEAC=5,2;MLEAF=0.147,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=1.83;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,8,0:64:31:0|1:225353860_A_G:31,0,2028,198,2051,2249:225353860	10	0	5	4
chr1	225353862	225353862	C	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.C11593G:p.L3865V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.998	D	0.987	D	.	.	1.000	D	.	.	3.07	T	-1.168	T	0.067	T	0.206	3.493	17.86	4.96	2.441	4.553	15.452	0.169	0.184522215149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.495e-06	2.815e-05	1.481e-06	1.51e-06	1.943e-06	2.5e-07	9e-08	3.2e-07	1.2e-07	0	0	0	0	0	0	1.943e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.007	0.69154	D	0.998	0.73220	D	0.987	0.77487	D	.	.	.	.	1	0.81001	D	.	.	.	3.07	0.08547	T	-2.09	0.47683	N	0.478	0.51315	-1.1684	0.00571	T	0.067	0.27674	T	8	0.42786682	0.57295	T	0.184522	0.85755	D	0.169	0.43123	0.464	0.53404	0.539206206136	0.53571	.	.	.	.	0.575304269791	0.49425	T	.	.	.	-0.225988	0.17183	T	-0.562392	0.16153	T	0.954804537863371	0.64353	D	0.537746	0.18100	T	.	.	.	.	.	.	.	.	-5.635	0.43111	T	.	.	.	.	.	.;.	.;.	3.753409	0.53817	23.4	0.99763407953241845	0.85254	0.92830	0.56650	D	AEFI	0.645686	0.62149	D	0.612402131367579	0.73959	6.051873	0.603151193080595	0.75167	6.263177	0.909202901970934	0.26305	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	4.575000	0.60619	4.515000	0.43664	0.563000	0.28513	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.452	0.75010	620	0.66037	.;.	.	.	.	.	.	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	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,8,0,0:64:31:0|1:225353860_A_G:31,0,2028,198,2051,2249,198,2051,2249,2249:225353860	12	0	5	1
chr1	225353862	225353862	-	GGGG	exonic	DNAH14	.	frameshift insertion	DNAH14:NM_001367479:exon73:c.11593_11594insGGGG:p.L3865Rfs*15,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,8,0,0:64:31:0|1:225353860_A_G:31,0,2028,198,2051,2249,198,2051,2249,2249:225353860	12	0	5	1
chr1	225353862	225353862	C	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,8,0,0:64:31:0|1:225353860_A_G:31,0,2028,198,2051,2249,198,2051,2249,2249:225353860	12	0	5	1
chr1	225514708	225514708	G	A	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995T:p.A332V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.97	D	0.003	N	1.000	D	1.995	M	1.96	T	0.348	D	0.643	D	0.677	4.366	23.0	5.21	2.430	8.082	18.735	0.233	0.112320486811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.797e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.048	0.50514	D	0.997	0.70673	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999596	0.58761	D	2.275	0.64647	M	-0.04	0.63240	T	-1.67	0.39887	N	0.63	0.64393	0.348	0.88309	D	0.643	0.87528	D	10	0.4695522	0.59778	T	0.11232	0.79042	D	0.233	0.53499	0.104	0.01698	0.612357999405	0.60923	0.16674359625552354	0.16594	0.92458102789	0.71591	0.674778223038	0.63520	T	0.277514	0.65013	T	0.133822	0.67732	D	-0.0455502	0.67325	D	0.946237564086914	0.62427	D	0.848015	0.53747	T	0.17252353	0.37948	0.16418302	0.38047	0.17252353	0.37948	0.16418302	0.38046	-10.699	0.78566	D	.	.	0.227	0.48510	B	.;.;.	.;.;.	4.298915	0.65622	24.9	0.99888774019022097	0.96359	0.99573	0.97585	D	AEFDBI	0.882683	0.81099	D	0.729987147899231	0.81600	7.559994	0.719044094803892	0.83827	8.124527	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/1:72,33,7:112:99:113,0,1037,242,1055,1347	3	0	12	4
chr1	225514708	225514708	G	C	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995G:p.A332G	.	.	425	1069	28	0	0	28	0.0129271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.994	D	0.97	D	0.003	N	1.000	D	2.545	M	1.97	T	0.305	D	0.679	D	0.661	4.523	24.4	5.21	2.430	8.082	18.735	0.251	0.134379640135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0006	0.0002	0.0001	0.0002	0.0002	0.0001	0.0002	0.0002	9.689e-05	2.258e-05	3.953e-05	2.59e-05	0	0	0.0002	0.0001	7.146e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.183	0.39340	T	0.994	0.66517	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999496	0.58761	D	2.62	0.76659	M	-0.04	0.63240	T	-1.88	0.43906	N	0.603	0.62950	0.305	0.87637	D	0.679	0.88907	D	10	0.44018695	0.58051	T	0.13438	0.81681	D	0.251	0.56024	0.122	0.02867	0.652436559791	0.64954	0.11579549220610402	0.11507	0.929717523318	0.71774	0.644413113594	0.59191	T	0.218669	0.58146	T	0.124294	0.66801	D	-0.0592364	0.66386	T	0.932058036327362	0.59784	D	0.871513	0.63166	D	0.18916725	0.40447	0.18597509	0.41743	0.18916725	0.40446	0.18597509	0.41742	-9.88	0.74330	D	.	.	0.252	0.51900	B	.;.;.	.;.;.	4.037834	0.59751	24.1	0.99785765454140729	0.87219	0.99631	0.98164	D	AEFDBI	0.890935	0.82643	D	0.742122182897517	0.82390	7.750937	0.716777429846324	0.83653	8.078442	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/1:72,33,7:112:99:113,0,1037,242,1055,1347	3	0	12	4
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	0/1:44,32:76:99:756,0,1056	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|1:50,43,0:93:99:0|1:240207634_G_C:1586,0,1908,1250,2036,3179:240207634	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|1:48,43,0:91:99:0|1:240207634_G_C:1592,0,1886,1250,1999,3139:240207634	10	1	8	0
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	0|1:11,20,0:31:99:0|1:240207785_A_T:672,0,403,705,462,1167:240207785	8	1	4	7
chr1	240207806	240207806	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1124	331	37	24	6	91	0.113788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	6284.06	46	chr1	240207806	.	C	T,*	6284.06	.	AC=10,1;AF=0.357,0.036;AN=28;BaseQRankSum=0.800;DP=850;ExcessHet=4.1217;FS=8.259;InbreedingCoeff=-0.1533;MLEAC=13,1;MLEAF=0.464,0.036;MQ=50.66;MQRankSum=0.217;QD=15.95;ReadPosRankSum=0.00;SOR=1.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,17,0:36:99:0|1:240207785_A_T:651,0,487,697,538,1235:240207785	4	1	8	7
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	1/2:1,16,16,0:33:99:.:.:841,633,605,228,0,561,880,655,441,1059	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|1:14,16,0:30:99:0|1:240207785_A_T:613,0,481,654,529,1183:240207785	9	1	4	6
chr1	240207821	240207821	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1088	429	4	0	1	5	0.00464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1923.71	37	chr1	240207821	.	T	A,*	1923.71	.	AC=3,1;AF=0.094,0.031;AN=32;BaseQRankSum=-2.530e-01;DP=762;ExcessHet=0.7564;FS=4.519;InbreedingCoeff=-0.1829;MLEAC=4,1;MLEAF=0.125,0.031;MQ=50.40;MQRankSum=2.47;QD=11.38;ReadPosRankSum=-2.080e-01;SOR=1.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,17,0:32:99:0|1:240207785_A_T:632,0,511,675,562,1237:240207785	12	0	3	5
chr1	241635117	241635117	A	T	exonic	CHML	.	nonsynonymous SNV	CHML:NM_001821:exon1:c.T650A:p.I217N	.	.	434	1084	4	0	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.974	D	0.901	P	0.000	U	1.000	D	.	.	0.22	T	-0.757	T	0.243	T	0.534	1.318	10.32	3.7	0.956	3.995	7.586	0.344	0.226483729737	.	.	8.259e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs754142169	1.027e-05	1.026e-05	1.226e-05	8.257e-06	0.0009	6.17e-06	4.89e-06	0.0003	0.0002	0	2.236e-05	0	0	0	0.0009	3.597e-06	6.626e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.004	0.74150	D	0.974	0.57829	D	0.901	0.63994	P	0.000000	0.84330	U	0.000000	1	0.81001	D	3.235	0.89610	M	0.22	0.59851	T	-2.84	0.59873	D	0.524	0.55366	-0.7569	0.57572	T	0.243	0.61119	T	9	0.7848741	0.78161	D	0.226484	0.88046	D	0.344	0.66582	0.718	0.85319	0.699787150089	0.69719	0.48761138460232545	0.48681	0.303677372257	0.32695	0.552998423576	0.46280	T	0.203453	0.56193	T	-0.0110982	0.50113	T	-0.170853	0.57364	T	0.875591397285461	0.52547	D	0.925707	0.72678	D	0.54573953	0.69717	0.29808182	0.55841	0.54573953	0.69718	0.29808182	0.55840	-11.543	0.82554	D	.	.	0.319	0.54463	B	.	.	3.735255	0.53455	23.4	0.98933494044319004	0.48788	0.98076	0.79394	D	AEFGBI	0.303589	0.41153	N	0.0775812996418333	0.45417	2.798684	-0.0236801277943599	0.38649	2.280007	0.999998264025902	0.74766	0.660377	0.49826	0	0.633656	0.55848	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	4.86	3.7	0.41607	5.521000	0.66800	6.702000	0.56374	0.756000	0.94297	0.998000	0.41325	0.961000	0.29326	0.914000	0.44937	0.9026:0.0:0.0974:0.0	7.586	0.27163	891	0.26808	.	.	.	.	.	.	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	3295.98	35	chr1	241635117	.	A	T	3295.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.062;DP=948;ExcessHet=0.0000;FS=2.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=-1.860e+00;SOR=0.527	GT:AD:DP:GQ:PL	0/1:111,123:234:99:3310,0,2840	20	0	1	0
chr1	247723263	247723263	G	A	exonic	OR14A2	.	nonsynonymous SNV	OR14A2:NM_001355292:exon5:c.C781T:p.P261S,	.	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	.	.	.	.	0.514	U	1.000	N	.	.	8.77	T	-1.103	T	0.000	T	0.095	1.134	9.623	-4.06	-1.115	-0.739	5.810	0.036	0.000725876733462	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1012773497	1.415e-05	1.272e-05	1.536e-05	1.311e-05	0.0005	6.08e-06	4.4e-06	8.62e-05	3.585e-05	0	0	0	0	0	0.0005	6.307e-06	6.499e-05	3.186e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.10945	T	0.403	0.14865	T	.	.	.	.	.	.	0.513628	0.11817	U	0.709097	1	0.08975	N	.	.	.	8.77	0.00063	T	-3.59	0.69236	D	0.072	0.04547	-1.1030	0.03747	T	0.000	0.00075	T	7	0.077682704	0.12290	T	7.26E-4	0.00472	T	0.036	0.09122	.	.	0.124217242631	0.12060	0.04454684524466763	0.04398	.	.	.	.	.	0.013727	0.11817	T	-0.508646	0.00511	T	-0.77144	0.02721	T	0.0992418015090756	0.12274	T	0.239076	0.03406	T	0.057674937	0.11508	0.08838191	0.20604	0.057674937	0.11508	0.08838191	0.20603	-3.893	0.22197	T	.	.	0.083	0.09094	B	.	.	-0.463875	0.01986	0.174	0.82288296168370023	0.14114	0.01355	0.04643	N	AEFDGHI	0.036428	0.04851	N	-0.755489488827823	0.14485	0.7219112	-0.958594338448655	0.10725	0.5419703	4.06570778021723E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.0	-4.06	0.03718	-2.031000	0.01515	.	.	0.641000	0.52212	0.000000	0.06391	0.000000	0.08366	0.973000	0.55318	0.2688:0.3656:0.3656:0.0	5.810	0.17722	958	0.09170	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2024.98	34	chr1	247723263	.	G	A	2024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.19;DP=963;ExcessHet=0.0000;FS=4.284;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.07;ReadPosRankSum=7.000e-03;SOR=0.469	GT:AD:DP:GQ:PL	0/1:57,69:126:99:2039,0,1454	20	0	1	0
chr1	248441544	248441544	G	A	exonic	OR2T7	.	nonsynonymous SNV	OR2T7:NM_001355223:exon1:c.G428A:p.R143H,	.	.	431	984	107	0	0	107	0.0515663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0111821	0.0140	0.0012	0.0016	0.0007	0.0256	0.0089	0.0177	0.0527	0.000815	126	154602	rs138819139	0.0096	0.0097	0.0079	0.0113	0.0559	0.0095	0.0094	0.0546	0.0541	0.0010	0.0030	0.0133	0.0003	0.0252	0.0209	0.0060	0.0100	0.0559	0.0087	0.0085	0.0073	0.0102	0.0501	0.0083	0.0081	0.0449	0.0429	0.0011	0	0.0031	0.0157	0.0012	0.0257	0.0174	0.0085	0.0098	0.0501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	6403.92	42	chr1	248441544	.	G	A	6403.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.04;DP=2468;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=48.50;MQRankSum=4.58;QD=9.67;ReadPosRankSum=1.26;SOR=0.752	GT:AD:DP:GQ:PL	0/1:98,75:173:99:1822,0,2541	17	0	4	0
chr2	1643470	1643470	C	A	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon19:c.G3850T:p.V1284L,	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	.	429	980	106	7	0	120	0.0576923	.	.	250315	Anterior_segment_dysgenesis_7|not_specified|not_provided	MONDO:MONDO:0010015,MedGen:C3151617,OMIM:269400,Orphanet:289499|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.07	T	0.245	B	0.162	B	0.236	N	1.000	D	1.59	L	-0.29	T	-0.655	T	0.220	T	0.754	3.192	16.69	5.27	2.468	3.081	18.907	0.258	.	0.0049	0.013778	0.0118	0.0015	0.0083	0	0.0003	0.0082	0.0211	0.0453	0.0107631	1664	154602	rs147066927	0.0079	0.0079	0.0067	0.0092	0.0569	0.0078	0.0078	0.0518	0.0498	0.0022	0.0078	0.0245	2.519e-05	0.0005	0.0569	0.0051	0.0113	0.0442	0.0061	0.0061	0.0053	0.0069	0.0452	0.0057	0.0056	0.0403	0.0384	0.0011	0	0.0116	0.0199	0	0.0002	0.0408	0.0054	0.0137	0.0452	0.055	0.38407	T	0.078	0.42261	T	0.245	0.31074	B	0.162	0.34839	B	0.235775	0.15821	N	0.585291	0.999947	0.51968	D	1.68	0.43186	L	-0.29	0.67712	T	-2.41	0.52938	N	0.105	0.08925	-0.6554	0.62478	T	0.220	0.58292	T	10	0.009080559	0.00205	T	.	.	.	0.258	0.56959	0.504	0.59770	.	.	0.718440100943886	0.71787	0.559209178422	0.52472	0.590268671513	0.51531	T	0.257772	0.62885	T	-0.215215	0.18652	T	-0.0483367	0.67135	D	0.0161957909221841	0.00394	T	0.833117	0.50161	T	0.2221549	0.44809	0.1884566	0.42137	0.2221549	0.44809	0.1884566	0.42137	-7.21	0.55553	T	0.1606143896662149	0.19607	0.482	0.63745	A	.	.	3.033307	0.40636	21.2	0.99071842500591201	0.51739	0.96374	0.68826	D	AEFDBCI	0.703649	0.65962	D	0.0678464935631092	0.44968	2.76128	0.176129248850277	0.48542	3.068776	0.999999999974522	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	4.733000	0.61730	7.418000	0.58694	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.363000	0.25954	0.0:1.0:0.0:0.0	18.907	0.92439	824	0.40336	Peroxidasin, peroxidase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	4442.11	37	chr2	1643470	.	C	A	4442.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.178e+00;DP=1097;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-1.380e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/1:69,101:170:99:2529,0,1725	19	0	2	0
chr2	3387687	3387687	G	A	exonic	TRAPPC12	.	nonsynonymous SNV	TRAPPC12:NM_001321102:exon2:c.G64A:p.A22T	.	.	423	1069	30	0	0	30	0.0138376	.	.	1663862	TRAPPC12-related_disorder|not_provided|Inborn_genetic_diseases	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.56	T	0.787	P	0.182	B	0.108	N	1.000	N	0.895	L	-0.3	T	-0.965	T	0.117	T	0.036	0.908	8.692	2.46	0.524	1.104	5.734	0.071	.	0.0021	0.00139776	0.0050	0.0004	0.0080	0	0.0275	0.0050	0.0102	0.0051	0.0019081	295	154602	rs200941005	0.0025	0.0025	0.0025	0.0026	0.0053	0.0024	0.0024	0.0043	0.0042	0.0009	0.0025	0.0004	2.758e-05	0.0056	0.0053	0.0024	0.0029	0.0047	0.0022	0.0022	0.0020	0.0024	0.0038	0.0020	0.0020	0.0030	0.0027	0.0004	0	0.0038	0.0003	0	0.0063	0	0.0026	0.0019	0.0037	0.4	0.10482	T	0.444	0.13177	T	0.429	0.35556	B	0.019	0.18783	B	0.107730	0.02608	N	1.827870	1	0.08975	N	0.77	0.19370	N	-0.3	0.67874	T	-0.2	0.10136	N	0.032	0.00825	-0.9649	0.38230	T	0.117	0.41187	T	10	0.0035474598	0.00064	T	.	.	.	0.071	0.20720	.	.	0.455722563999	0.45195	0.06708059550249582	0.06646	0.237743367185	0.26321	0.416596293449	0.27369	T	0.003064	0.02464	T	-0.581985	0.00187	T	-0.608217	0.12129	T	0.00150097774500844	0.00015	T	0.353565	0.07967	T	0.02512607	0.01415	0.037013467	0.03266	0.02292016	0.00989	0.036016054	0.02965	-4.169	0.26301	T	0.09427473967491526	0.06291	0.071	0.04002	B	.;.	.;.	0.782339	0.11523	8.123	0.79857654814798007	0.12933	0.02393	0.06788	N	AEFDBI	0.040266	0.05965	N	-0.751456294368612	0.14593	0.7282783	-0.822862250216735	0.13942	0.7259425	0.975804504763812	0.29666	0.643511	0.44296	0	0.643519	0.57511	0	0.570548	0.19454	0	0.631631	0.49550	0	.	.	4.34	2.46	0.29032	0.626000	0.24185	2.228000	0.31507	0.654000	0.53741	0.001000	0.13787	0.038000	0.21505	0.001000	0.02609	0.1029:0.0:0.7068:0.1903	5.734	0.17324	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1287.98	37	chr2	3387687	.	G	A	1287.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=0.425;SOR=0.612	GT:AD:DP:GQ:PL	0/1:63,49:112:99:1302,0,1597	20	0	1	0
chr2	20034361	20034361	C	A	exonic	LAPTM4A	.	nonsynonymous SNV	LAPTM4A:NM_014713:exon6:c.G583T:p.V195L,	.	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.001	B	0.002	B	0.007	N	0.996	N	0	N	0.83	T	-1.087	T	0.004	T	0.097	0.956	8.900	-0.653	0.048	0.130	0.670	0.073	.	0.0033	0.013778	0.0164	0.0021	0.1343	0.0037	0.0079	0.0044	0.0088	0.0015	0.0153426	2372	154602	rs145912850	0.0080	0.0080	0.0087	0.0072	0.1182	0.0078	0.0078	0.1155	0.1145	0.0013	0.1182	0.0004	0.0107	0.0089	0.0014	0.0044	0.0064	0.0016	0.0096	0.0096	0.0091	0.0101	0.0587	0.0092	0.0090	0.0555	0.0542	0.0018	0	0.0587	0.0006	0.0060	0.0094	0.0136	0.0046	0.0118	0.0027	0.704	0.04120	T	0.357	0.17115	T	0.001	0.07471	B	0.002	0.06944	B	0.007232	0.31521	N	0.388327	0.995843	0.23185	N	-0.2	0.04182	N	0.83	0.47815	T	-0.14	0.09135	N	0.065	0.03726	-1.0869	0.06066	T	0.004	0.01192	T	10	0.0022448897	0.00033	T	.	.	.	0.073	0.21317	0.243	0.17677	.	.	0.4450729483368901	0.44425	0.169155865248	0.19067	0.281187802553	0.07658	T	0.008983	0.08204	T	-0.685148	0.00045	T	-0.649823	0.08966	T	0.0149082550684807	0.00317	T	0.782722	0.41876	T	0.016347824	0.00192	0.024465334	0.00467	0.016347824	0.00191	0.024465334	0.00467	-6.95	0.53668	T	.	.	0.065	0.01884	B	.	.	0.769123	0.11391	8.003	0.80228681106544608	0.13104	0.61554	0.31518	D	AEFDBCIJ	0.285988	0.39848	N	-0.743564163042064	0.14809	0.7408525	-0.580905262750224	0.19991	1.075085	0.940328133608867	0.27427	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.723	0.93126	0	.	.	5.85	-0.653	0.10872	0.131000	0.15696	1.044000	0.23581	0.599000	0.40250	0.734000	0.28964	0.649000	0.25954	0.931000	0.46843	0.4398:0.1547:0.1648:0.2406	0.670	0.00803	933	0.16026	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1369.98	33	chr2	20034361	.	C	A	1369.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=811;ExcessHet=0.0000;FS=3.520;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-1.237e+00;SOR=1.088	GT:AD:DP:GQ:PL	0/1:58,53:111:99:1384,0,1437	20	0	1	0
chr2	20667365	20667365	-	GGCGGCGGC	exonic	GDF7	.	nonframeshift insertion	GDF7:NM_182828:exon1:c.126_127insGGCGGCGGC:p.G50_R51insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6818	3157.26	2	chr2	20667362	.	GGGC	GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,G	3157.26	.	AC=11,3,2;AF=0.500,0.136,0.091;AN=22;DP=140;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6169;MLEAC=18,5,2;MLEAF=0.818,0.227,0.091;MQ=60.00;QD=28.56;SOR=0.766	GT:AD:DP:GQ:PL	1/1:0,3,0,0:3:9:134,9,0,135,9,135,135,9,135,135	3	5	0	10
chr2	20667365	20667365	-	GGCGGCGGCGGCGGCGGC	exonic	GDF7	.	nonframeshift insertion	GDF7:NM_182828:exon1:c.126_127insGGCGGCGGCGGCGGCGGC:p.G50_R51insGGGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6818	3157.26	2	chr2	20667362	.	GGGC	GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,G	3157.26	.	AC=11,3,2;AF=0.500,0.136,0.091;AN=22;DP=140;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6169;MLEAC=18,5,2;MLEAF=0.818,0.227,0.091;MQ=60.00;QD=28.56;SOR=0.766	GT:AD:DP:GQ:PL	1/1:0,3,0,0:3:9:134,9,0,135,9,135,135,9,135,135	3	5	0	10
chr2	24077647	24077647	G	C	exonic	TP53I3	.	nonsynonymous SNV	TP53I3:NM_001206802:exon4:c.C734G:p.P245R	.	.	421	1094	7	0	0	7	0.00318907	.	.	2282939	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.038	B	0.003	B	0.051	N	0.993	N	.	.	2.38	T	-1.067	T	0.028	T	0.143	3.763	19.11	4.13	2.521	3.524	7.043	0.050	0.00495532351969	7.7e-05	.	0.0003	9.614e-05	0	0	0	0.0003	0	0.0007	0.0002458	38	154602	rs201865216	0.0002	0.0002	0.0002	0.0002	0.0092	0.0002	0.0002	0.0072	0.0065	0.0001	8.944e-05	0.0002	0	0	0.0092	0.0001	0.0002	0.0007	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	9.236e-05	0.0005	0.0004	4.813e-05	0	0.0001	0.0003	0	0	0.0034	0.0002	0	0.0012	0.59	0.05808	T	0.657	0.06576	T	0.004	0.12183	B	0.002	0.06944	B	0.051034	0.23018	N	0.399838	1	0.08975	N	.	.	.	2.38	0.15843	T	-0.54	0.16598	N	0.095	0.07535	-1.0667	0.10154	T	0.028	0.12014	T	9	0.037288755	0.02074	T	0.004955	0.12473	T	0.050	0.13987	.	.	0.483816155017	0.48013	0.5446661161741544	0.54392	0.345908601457	0.36496	0.293431699276	0.09425	T	0.036564	0.24153	T	-0.54155	0.00328	T	-0.654882	0.08616	T	0.0900005921721458	0.11219	T	0.732227	0.34774	T	0.11055438	0.26131	0.07534827	0.16579	0.11055438	0.26131	0.07534827	0.16579	-6.754	0.52216	T	.	.	0.108	0.20586	B	.;.	.;.	2.910952	0.38609	20.8	0.99804357515803555	0.88906	0.18870	0.20436	N	AEFDGBCIJ	0.139784	0.26149	N	-0.143730876917905	0.35503	2.040018	-0.0512046228558069	0.37439	2.192045	0.999999998405991	0.74766	0.733237	0.96898	0	0.685571	0.66316	0	0.600757	0.32118	0	0.657601	0.63696	0	.	.	5.07	4.13	0.47661	3.597000	0.53777	6.951000	0.57024	0.676000	0.76740	0.986000	0.36153	1.000000	0.68203	0.983000	0.59808	0.1015:0.2693:0.6292:0.0	7.043	0.24208	211	0.91797	Polyketide synthase, enoylreductase domain;Polyketide synthase, enoylreductase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1005.98	39	chr2	24077647	.	G	C	1005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.495e+00;DP=940;ExcessHet=0.0000;FS=5.033;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=-4.670e-01;SOR=1.203	GT:AD:DP:GQ:PL	0/1:52,46:98:99:1020,0,1327	20	0	1	0
chr2	26187385	26187385	C	T	exonic	GAREM2	.	nonsynonymous SNV	GAREM2:NM_001168241:exon6:c.C1753T:p.R585W,	.	.	416	1104	1	1	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.001	B	0.022	N	1.000	D	-0.255	N	2.55	T	-0.972	T	0.013	T	0.167	0.339	5.837	0.279	0.124	-0.509	3.797	0.010	0.00588985232661	.	0.000399361	0.0001	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs531671860	6.883e-05	6.84e-05	6.79e-05	6.979e-05	0.0016	5.759e-05	5.352e-05	0.0008	0.0006	0	0.0002	0	5.613e-05	0	0.0016	5.943e-05	5.188e-05	0.0001	4.595e-05	4.593e-05	7.709e-05	1.342e-05	6.536e-05	2.107e-05	1.526e-05	1.972e-05	1.124e-05	4.811e-05	0	6.536e-05	0	0	0	0	5.88e-05	0	0	0.272	0.15930	T	0.334	0.18340	T	0.001	0.07471	B	0.001	0.04355	B	0.022319	0.26659	N	0.253149	1	0.81001	D	.	.	.	2.55	0.13795	T	1.02	0.01369	N	0.145	0.14622	-0.9719	0.36798	T	0.013	0.04938	T	10	0.018396497	0.00400	T	0.00589	0.15340	T	0.010	0.01040	0.336	0.32491	0.18274738541	0.17906	0.3525873005778629	0.35172	.	.	0.427709966898	0.28895	T	0.007649	0.07043	T	-0.520055	0.00440	T	-0.69265	0.06236	T	0.0264945357234851	0.01473	T	0.79622	0.43953	T	0.057437103	0.11430	0.029678956	0.01332	0.057437103	0.11430	0.029678956	0.01332	-4.378	0.29257	T	.	.	0.096	0.15160	B	.	.	1.087613	0.14711	11.26	0.80891568483269394	0.13418	0.01771	0.05557	N	AEFDBI	0.108481	0.21579	N	-1.21917698885769	0.04722	0.2137293	-1.17443662429275	0.06339	0.3048518	0.999949110414203	0.47345	0.651	0.46895	0	0.633656	0.55848	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	5.2	0.279	0.14929	-0.621000	0.05655	-0.047000	0.12595	-0.314000	0.05961	0.000000	0.06391	0.000000	0.08366	0.206000	0.22070	0.6116:0.2098:0.0:0.1786	3.797	0.08260	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	1	0	0	0	0.02381	1510.98	37	chr2	26187385	.	C	T	1510.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.000e-03;DP=832;ExcessHet=0.0000;FS=0.683;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=-8.620e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/1:58,62:120:99:1525,0,1402	20	0	1	0
chr2	30751120	30751120	C	T	exonic	CAPN13	.	nonsynonymous SNV	CAPN13:NM_144575:exon11:c.G1219A:p.D407N,	.	.	.	.	.	.	.	.	.	.	.	3298897	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.0	B	0.001	B	0.549	N	1.000	N	-0.69	N	-2.19	D	-0.828	T	0.266	T	0.078	-0.502	1.700	-1.9	-0.082	0.306	1.523	0.111	0.0119773880604	0.0004	.	7.92e-05	0.0007	0.0002	0	0	0	0	6.525e-05	5.82e-05	9	154602	rs370249872	2.806e-05	2.805e-05	3.404e-05	2.201e-05	0.0007	2.087e-05	1.879e-05	0.0004	0.0004	0.0007	8.951e-05	0	0	0	0	9.895e-06	4.97e-05	1.16e-05	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	9.703e-05	0.0004	0.0003	0.0006	0	0	0	0	0	0	1.47e-05	0	0	0.374	0.11406	T	0.481	0.11864	T	0.0	0.02946	B	0.001	0.04355	B	0.548627	0.05357	N	1.267680	1	0.08975	N	-0.695	0.01866	N	-2.19	0.86815	D	0.6	0.02518	N	0.087	0.06454	-0.8278	0.53442	T	0.266	0.63781	T	10	0.02390477	0.00640	T	0.011977	0.30135	T	0.111	0.31313	.	.	0.41921206133	0.41539	0.42235477638552926	0.42152	0.059343634591	0.06593	0.280311882496	0.07536	T	0.165042	0.51073	T	-0.483713	0.00704	T	-0.525372	0.19752	T	0.00166357994093978	0.00017	T	0.257074	0.04045	T	0.03266666	0.03337	0.032254357	0.01933	0.03266666	0.03336	0.032254357	0.01933	-3.924	0.22662	T	.	.	0.097	0.15609	B	.	.	0.386702	0.07583	4.241	0.51228883116923318	0.04525	0.00061	0.00447	N	AEFGBI	0.022047	0.01053	N	-1.39316967280298	0.02701	0.1196641	-1.39677889731859	0.03286	0.1529869	0.0447935340543339	0.14626	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.01	-1.9	0.07248	0.302000	0.18947	-0.030000	0.12807	-0.761000	0.03509	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1603:0.116:0.3908:0.3328	1.523	0.02367	854	0.34840	Peptidase C2, calpain, large subunit, domain III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1739.98	34	chr2	30751120	.	C	T	1739.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.160e-01;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=-3.140e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/1:73,71:144:99:1754,0,1857	20	0	1	0
chr2	33527173	33527173	G	A	exonic	RASGRP3	.	nonsynonymous SNV	RASGRP3:NM_015376:exon9:c.G844A:p.G282S	.	.	437	1038	46	1	0	48	0.0225989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.977	D	0.624	P	0.000	D	1.000	D	0.4	N	1.59	T	-1.131	T	0.056	T	0.438	3.717	18.88	5.74	2.712	7.655	19.940	0.115	.	0.0034	0.00758786	0.0090	0.0005	0.0045	0.0002	0.0091	0.0063	0.0067	0.0328	0.0080982	1252	154602	rs142000180	0.0068	0.0068	0.0057	0.0079	0.0341	0.0067	0.0067	0.0331	0.0327	0.0010	0.0035	0.0079	7.557e-05	0.0100	0.0149	0.0051	0.0064	0.0341	0.0056	0.0056	0.0050	0.0063	0.0317	0.0053	0.0052	0.0276	0.0261	0.0010	0.0197	0.0075	0.0052	0.0006	0.0090	0.0136	0.0058	0.0071	0.0317	0.443	0.09346	T	0.499	0.11371	T	0.977	0.58535	D	0.624	0.51529	P	0.000013	0.62929	D	0.115113	0.999975	0.53665	D	0.425	0.12573	N	1.59	0.28836	T	-1.32	0.32991	N	0.441	0.50146	-1.1311	0.01730	T	0.056	0.23639	T	10	0.012260407	0.00264	T	.	.	.	0.115	0.32236	.	.	0.780878195205	0.77885	0.4263522460405728	0.42552	0.415926434887	0.42235	0.638891577721	0.58407	T	0.243467	0.61240	T	-0.428832	0.01506	T	-0.364389	0.37544	T	0.0262038062900292	0.01433	T	0.932007	0.74652	D	0.15598223	0.35224	0.1770133	0.40274	0.15598223	0.35223	0.1770133	0.40273	-6.348	0.49463	T	.	.	0.133	0.33573	B	.;.;.	.;.;.	5.768798	0.93468	33	0.99802962190873989	0.88728	0.88528	0.48498	D	AEFBCI	0.848698	0.76552	D	0.50070749462653	0.67131	5.041035	0.597081224363905	0.74730	6.186954	0.999994411967859	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.74	5.74	0.90070	7.764000	0.84130	10.029000	0.83162	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.940	0.97160	760	0.50470	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1536.98	40	chr2	33527173	.	G	A	1536.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.275e+00;DP=818;ExcessHet=0.0000;FS=1.524;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=2.08;SOR=0.524	GT:AD:DP:GQ:PL	0/1:62,63:125:99:1551,0,1577	20	0	1	0
chr2	47377058	47377058	A	G	exonic	EPCAM	.	nonsynonymous SNV	EPCAM:NM_002354:exon5:c.A536G:p.K179R,	Colorectal cancer, hereditary nonpolyposis, type 8;Diarrhea 5, with tufting enteropathy, congenital, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.236	B	0.039	B	0.005	N	0.976	D	1.73	L	-0.69	T	-0.658	T	0.246	T	0.437	0.909	8.697	4.98	2.084	2.677	10.997	0.217	0.0246381896829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.26740	T	0.267	0.24987	T	0.236	0.30770	B	0.039	0.23607	B	0.005455	0.32788	N	0.343603	0.97576	0.39217	D	2.125	0.59049	M	-0.7	0.72785	T	-1.22	0.30964	N	0.44	0.47857	-0.6583	0.62351	T	0.246	0.61530	T	10	0.31376582	0.48824	T	0.024638	0.47627	T	0.217	0.51112	0.398	0.42590	0.591171394266	0.58793	0.18962762654596044	0.18880	0.0131313156264	0.01263	0.507154047489	0.39824	T	0.023071	0.60309	T	-0.00138924	0.51464	T	-0.239772	0.50821	T	0.456063628196716	0.31020	T	0.653735	0.26383	T	0.085854374	0.19934	0.07957987	0.17927	0.085854374	0.19934	0.07957987	0.17926	-3.166	0.12070	T	0.14377269052840694	0.16371	0.079	0.07507	B	.;.	.;.	1.506783	0.19364	14.22	0.98129383231111922	0.38506	0.88003	0.47745	D	AEBI	0.419958	0.48697	N	-0.116900813602991	0.36655	2.121797	-0.0378151055870336	0.38022	2.234247	0.383031909225997	0.19978	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	3.128000	0.50186	3.348000	0.37762	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	1.0:0.0:0.0:0.0	10.997	0.46800	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	1	0	0	0	0	0	0	0.02381	1703.98	33	chr2	47377058	.	A	G	1703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.270e+00;DP=870;ExcessHet=0.0000;FS=0.599;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=0.515;SOR=0.779	GT:AD:DP:GQ:PL	0/1:83,71:154:99:1718,0,2321	20	0	1	0
chr2	48495758	48495758	G	T	exonic	PPP1R21	.	nonsynonymous SNV	PPP1R21:NM_001135629:exon16:c.G1679T:p.G560V	.	.	436	1056	29	1	0	31	0.0144657	.	.	719897	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.27	T	1.0	D	0.986	D	0.000	D	1.000	D	1.78	L	.	.	-0.538	T	0.290	T	0.666	4.008	20.5	4.23	2.563	6.996	15.468	0.202	.	0.0065	0.00758786	0.0059	0.0077	0.0038	0.0013	0.0011	0.0041	0.0066	0.0182	0.0056338	871	154602	rs142541304	0.0048	0.0048	0.0043	0.0053	0.0176	0.0047	0.0046	0.0169	0.0166	0.0069	0.0044	0.0049	0.0005	0.0006	0.0061	0.0040	0.0060	0.0176	0.0050	0.0050	0.0048	0.0053	0.0203	0.0047	0.0046	0.0171	0.0158	0.0069	0	0.0054	0.0035	0.0004	0.0004	0.0034	0.0038	0.0090	0.0203	0.006	0.61437	D	0.025	0.56192	D	1.0	0.90584	D	0.986	0.76916	D	0.000000	0.84330	D	0.047651	1	0.81001	D	2.215	0.62545	M	.	.	.	-2.42	0.53096	N	0.746	0.74826	-0.5379	0.67243	T	0.290	0.66211	T	9	0.011542201	0.00252	T	.	.	.	0.202	0.48754	.	.	0.338834610459	0.33488	0.5122119881096482	0.51143	0.0594817374573	0.06608	0.613034725189	0.54745	T	0.098101	0.40159	T	-0.156761	0.27259	T	0.0156729	0.71349	D	0.018000829657099	0.00525	T	0.965303	0.87188	D	0.4752594	0.65612	0.45371944	0.68231	0.4752594	0.65612	0.45371944	0.68232	-3.136	0.11714	T	.	.	0.433	0.69480	A	.;.	.;.	4.917033	0.80951	27.4	0.99777325674031891	0.86433	0.97465	0.74925	D	AEFBI	0.773239	0.70732	D	0.672331228217105	0.77820	6.748883	0.658776360877286	0.79266	7.046135	0.999025066292322	0.38237	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.18	4.23	0.49319	6.787000	0.74887	9.819000	0.81792	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.139:0.861:0.0	15.468	0.75149	579	0.69780	.;Uncharacterised domain KLRAQ/TTKRSYEDQ, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	901.98	42	chr2	48495758	.	G	T	901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=874;ExcessHet=0.0000;FS=0.829;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-9.520e-01;SOR=0.871	GT:AD:DP:GQ:PL	0/1:48,38:86:99:916,0,1119	20	0	1	0
chr2	53801819	53801819	G	A	exonic	ERLEC1	.	nonsynonymous SNV	ERLEC1:NM_001127397:exon8:c.G856A:p.V286M	.	.	440	1065	16	1	0	18	0.00837989	.	.	2815771	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.26	T	0.049	B	0.019	B	0.005	N	0.664	N	.	.	0.94	T	-1.093	T	0.057	T	0.089	1.783	11.92	4.98	2.827	3.629	2.837	0.073	.	.	0.00239617	0.0012	0	8.642e-05	0	0	0.0001	0	0.0079	0.0009832	152	154602	rs201645542	0.0005	0.0005	0.0003	0.0007	0.0069	0.0005	0.0005	0.0064	0.0062	2.988e-05	0	0	2.52e-05	0	0.0023	0.0001	0.0008	0.0069	0.0003	0.0003	0.0002	0.0003	0.0064	0.0002	0.0002	0.0047	0.0041	2.408e-05	0	0	0	0	0	0.0034	0.0001	0	0.0064	0.25	0.20988	T	0.226	0.25438	T	0.049	0.22227	B	0.006	0.18783	B	0.004704	0.33466	N	0.345743	0.663935	0.33078	D	0	0.06538	N	0.94	0.43672	T	-0.48	0.15379	N	0.187	0.20395	-1.0929	0.05066	T	0.057	0.23791	T	9	0.005412936	0.00119	T	.	.	.	0.073	0.21317	0.238	0.16912	0.349870743963	0.34602	0.29064897459637995	0.28977	0.212721662606	0.23780	0.472177892923	0.34980	T	0.015951	0.13282	T	-0.591881	0.00163	T	-0.618267	0.11321	T	0.050598484669785	0.05605	T	0.864713	0.62218	D	0.041651893	0.06172	0.053116202	0.08886	0.041651893	0.06171	0.053116202	0.08886	-3.748	0.27881	T	.	.	0.095	0.19559	B	.;.;.	.;.;.	3.062489	0.41137	21.3	0.97590612404570942	0.34791	0.93307	0.57867	D	AEFBI	0.455401	0.50770	N	0.0597854067471872	0.44595	2.730574	0.244837737712767	0.52356	3.411023	0.345031189533317	0.19623	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.95	4.98	0.65679	3.133000	0.50225	8.595000	0.77703	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1708:0.0:0.538:0.2912	2.837	0.05177	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1395.98	33	chr2	53801819	.	G	A	1395.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.25;DP=835;ExcessHet=0.0000;FS=0.692;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=0.289;SOR=0.781	GT:AD:DP:GQ:PL	0/1:70,51:121:99:1410,0,1822	20	0	1	0
chr2	73218961	73218961	G	A	exonic	SMYD5	.	nonsynonymous SNV	SMYD5:NM_006062:exon2:c.G197A:p.R66H,	.	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.001	B	0.079	N	1.000	D	1.005	L	1.02	T	-1.088	T	0.076	T	0.336	3.874	19.68	2.66	0.335	2.123	9.789	0.051	.	0.0002	0.00219649	0.0009	0	0.0003	0	0.0002	0.0003	0.0022	0.0052	0.0007827	121	154602	rs138461928	0.0004	0.0004	0.0003	0.0006	0.0042	0.0004	0.0004	0.0039	0.0037	8.972e-05	0.0002	0.0008	0	9.361e-05	0.0007	0.0002	0.0006	0.0042	0.0003	0.0003	0.0002	0.0005	0.0062	0.0003	0.0002	0.0045	0.0039	2.406e-05	0	0.0004	0.0003	0	9.425e-05	0	0.0002	0	0.0062	0.167	0.23997	T	0.156	0.51737	T	0.001	0.07471	B	0.001	0.04355	B	0.078635	0.21032	N	0.514144	1	0.81001	D	1.59	0.40313	L	0.9	0.45248	T	-1.19	0.30346	N	0.217	0.24260	-1.0877	0.05925	T	0.076	0.30492	T	10	0.008322895	0.00189	T	.	.	.	0.051	0.14325	.	.	0.59855198555	0.59536	0.37127212932940323	0.37041	0.427374454908	0.43082	0.444713652134	0.31221	T	0.040525	0.25556	T	-0.488842	0.00659	T	-0.474149	0.25070	T	0.0218457604916583	0.00891	T	0.874113	0.59164	D	0.023542292	0.01103	0.038046975	0.03587	0.023542292	0.01103	0.038046975	0.03587	-6.47	0.50054	T	.	.	0.078	0.21728	B	.;.;.	.;.;.	3.051370	0.40945	21.3	0.99819946834119122	0.90326	0.67177	0.33338	D	AEFBCI	0.141046	0.26311	N	-0.444622605261566	0.23923	1.288107	-0.28359335838367	0.28638	1.598327	0.999913366109481	0.45857	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.47	2.66	0.30672	2.227000	0.42615	0.238000	0.16272	-0.119000	0.14319	1.000000	0.71638	0.002000	0.18203	0.995000	0.73285	0.2331:0.0:0.7669:0.0	9.789	0.39860	607	0.67291	SET domain|SET domain|SET 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	2523.98	35	chr2	73218961	.	G	A	2523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.780e-01;DP=909;ExcessHet=0.0000;FS=1.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-1.060e-01;SOR=0.575	GT:AD:DP:GQ:PL	0/1:96,106:202:99:2538,0,2234	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	3/5:0,0,0,19,0,17:36:99:1451,1461,1502,1461,1502,1502,712,755,755,734,1461,1502,1502,755,1502,745,757,757,0,757,705	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	3/5:0,0,0,19,0,17:36:99:1451,1461,1502,1461,1502,1502,712,755,755,734,1461,1502,1502,755,1502,745,757,757,0,757,705	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	3/5:0,0,0,19,0,17:36:99:1451,1461,1502,1461,1502,1502,712,755,755,734,1461,1502,1502,755,1502,745,757,757,0,757,705	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	3/5:0,0,0,19,0,17:36:99:1451,1461,1502,1461,1502,1502,712,755,755,734,1461,1502,1502,755,1502,745,757,757,0,757,705	0	4	5	0
chr2	74530221	74530221	T	C	exonic	HTRA2	.	nonsynonymous SNV	HTRA2:NM_001321727:exon1:c.T215C:p.L72P	3-methylglutaconic aciduria, type VIII, Autosomal recessive	.	0	1490	32	0	0	32	0.0106242	.	.	288021	HTRA2-related_disorder|Parkinson_disease_13,_autosomal_dominant,_susceptibility_to|not_provided	.|MONDO:MONDO:0012466,MedGen:C1853202,OMIM:610297,Orphanet:2828|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.004	B	0.003	B	0.045	N	0.999	N	0.695	N	2.35	T	-1.022	T	0.020	T	0.131	1.800	11.98	-0.323	0.359	0.505	0.962	0.057	.	0.0022	0.00159744	0.0027	0.0009	0.0016	0	0.0002	0.0034	0.0044	0.0037	0.0022703	351	154602	rs150047108	0.0035	0.0035	0.0035	0.0035	0.0040	0.0034	0.0034	0.0039	0.0039	0.0004	0.0018	7.678e-05	0	0.0002	0.0038	0.0040	0.0029	0.0039	0.0021	0.0021	0.0021	0.0021	0.0052	0.0019	0.0018	0.0036	0.0031	0.0007	0	0.0022	0.0003	0.0002	0	0	0.0032	0.0043	0.0052	0.001	0.78490	D	0.127	0.35082	T	0.001	0.12183	B	0.001	0.08700	B	0.044548	0.23626	N	0.267010	0.999493	0.21100	N	0.805	0.20218	L	2.35	0.16217	T	0.55	0.24026	N	0.223	0.32037	-1.0225	0.22899	T	0.020	0.08593	T	10	0.0052509904	0.00115	T	.	.	.	0.057	0.16321	.	.	0.266385636622	0.26244	0.6620386947890653	0.66140	1.39601714628	0.85086	0.625166535378	0.56460	T	0.087708	0.38001	T	-0.575252	0.00206	T	-0.600242	0.12792	T	0.0185566138682526	0.00570	T	0.513449	0.16474	T	0.08012084	0.18341	0.06895128	0.14464	0.060067747	0.12282	0.076975636	0.17103	-6.625	0.51923	T	.	.	0.067	0.02861	B	.;.;.	.;.;.	3.209516	0.43678	21.8	0.99085721058758613	0.52075	0.07325	0.13346	N	AEFDBCI	0.193850	0.32096	N	-0.844093685387519	0.12196	0.5929972	-0.83405054399255	0.13671	0.7104868	0.999998786389603	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	5.0	-0.323	0.12079	0.717000	0.25523	0.738000	0.21138	0.578000	0.29377	0.125000	0.23262	0.641000	0.25915	0.119000	0.19126	0.151:0.1781:0.3127:0.3581	0.962	0.01309	243	0.90483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	767.98	33	chr2	74530221	.	T	C	767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.680e-01;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=-1.929e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/1:40,33:73:99:782,0,1043	20	0	1	0
chr2	86065341	86065341	T	C	exonic	POLR1A	.	nonsynonymous SNV	POLR1A:NM_015425:exon14:c.A1991G:p.K664R,	Acrofacial dysostosis, Cincinnati type, Autosomal dominant	.	433	1085	4	0	0	4	0.00183993	.	.	1394765	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.014	B	0.000	N	0.997	D	1.07	L	-1.08	T	-0.826	T	0.260	T	0.062	1.505	10.98	2.24	0.499	2.090	9.911	0.186	0.0146550821929	8.2e-05	.	0.0003	0	0.0004	0	0	0.0003	0.0078	0.0003	0.0002264	35	154602	rs201364788	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0	0.0002	0	0	1.872e-05	0.0007	0.0002	0.0003	0.0002	0.0001	0.0001	0.0002	5.373e-05	0.0002	6.51e-05	5.321e-05	9.05e-05	7.014e-05	4.815e-05	0	0	0	0	0	0	0.0002	0.0009	0.0002	0.415	0.09989	T	0.789	0.04461	T	0.001	0.07471	B	0.014	0.16862	B	0.000000	0.84330	N	0.083922	0.996925	0.43508	D	1.7	0.43825	L	-1.08	0.77078	T	-1.33	0.33197	N	0.35	0.39356	-0.8261	0.53550	T	0.260	0.63121	T	10	0.12849653	0.24445	T	0.014655	0.34921	T	0.186	0.46104	.	.	0.540240987785	0.53675	0.4322910872790813	0.43146	0.478096384883	0.46899	0.388562500477	0.23467	T	0.232972	0.61330	T	-0.361953	0.04020	T	-0.453149	0.27348	T	0.0268298219889402	0.01521	T	0.816918	0.48435	T	0.08359805	0.19311	0.10372654	0.24894	0.0959494	0.22591	0.09403733	0.22241	-4.487	0.30718	T	0.27118242358597744	0.36480	0.071	0.04002	B	.;.	.;.	2.490419	0.32130	18.95	0.89327593412274375	0.18702	0.94028	0.59896	D	AEFBI	0.168364	0.29512	N	-0.35175148961854	0.27207	1.490926	-0.201369923045501	0.31486	1.782438	0.999945102222526	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	2.24	0.27264	2.073000	0.41144	2.384000	0.32503	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:0.1988:0.0:0.8012	9.911	0.40573	603	0.67726	RNA polymerase Rpb1, domain 3;RNA polymerase Rpb1, domain 3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2344.98	35	chr2	86065341	.	T	C	2344.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.260e-01;DP=914;ExcessHet=0.0000;FS=10.185;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-1.807e+00;SOR=0.907	GT:AD:DP:GQ:PL	0/1:110,96:206:99:2359,0,2783	20	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I	.	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.207	B	0.092	B	0.005	N	0.996	D	-0.23	N	4.47	T	-0.881	T	0.003	T	0.423	-1.806	0.009	1.05	1.049	-0.033	7.455	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Uncertain significance	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	0.3571	8192.58	228	chr2	94876587	.	C	A	8192.58	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.040e-01;DP=4322;ExcessHet=17.4423;FS=7.871;InbreedingCoeff=-0.5628;MLEAC=15;MLEAF=0.357;MQ=58.06;MQRankSum=-1.627e+01;QD=2.09;ReadPosRankSum=-3.458e+00;SOR=1.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,19:264:60:0|1:94876587_C_A:60,0,10201:94876587	6	0	15	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G	.	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.919	D	0.000	D	1.000	D	3.26	M	3.93	T	-1.109	T	0.045	T	0.571	3.511	17.94	2.43	1.049	4.806	10.548	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	33671.17	300	chr2	94876618	.	C	G	33671.17	.	AC=17;AF=0.425;AN=40;BaseQRankSum=-2.098e+00;DP=6579;ExcessHet=25.1139;FS=1.453;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.450;MQ=57.19;MQRankSum=-1.858e+01;QD=5.73;ReadPosRankSum=-2.736e+00;SOR=0.866	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:304,55:359:99:0|1:94876587_C_A:1394,0,12599:94876587	3	0	17	1
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C	.	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.048	B	0.017	B	0.105	N	1.000	D	1.645	L	4.19	T	-0.957	T	0.009	T	0.649	1.193	9.848	1.05	1.049	0.077	6.095	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.45	45706.22	343	chr2	94876632	.	C	T	45706.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-3.939e+00;DP=7445;ExcessHet=30.0624;FS=0.645;InbreedingCoeff=-0.7872;MLEAC=19;MLEAF=0.475;MQ=56.72;MQRankSum=-1.920e+01;QD=6.73;ReadPosRankSum=-7.690e-01;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:325,80:405:99:0|1:94876587_C_A:2259,0,13385:94876587	2	0	18	1
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V	.	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.967	D	0.77	P	0.000	D	1.000	D	2.675	M	3.8	T	-1.154	T	0.035	T	0.579	2.768	15.22	2.43	0.866	3.036	8.354	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	58582.68	398	chr2	94876671	.	A	G	58582.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-7.281e+00;DP=8408;ExcessHet=36.0830;FS=0.633;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.56;MQRankSum=-2.037e+01;QD=7.10;ReadPosRankSum=4.57;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:356,111:467:99:0|1:94876671_A_G:3589,0,14330:94876671	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|1:355,111:466:99:0|1:94876671_A_G:3592,0,14308:94876671	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	0/1:344,90:434:99:.:.:1974,0,8846	4	0	17	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T	.	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	1.0	D	0.000	D	1.000	D	2.125	M	4.16	T	-1.119	T	0.028	T	0.662	3.703	18.81	2.43	1.049	3.135	10.548	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	9909.42	357	chr2	94876737	.	C	A	9909.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.994e+00;DP=5582;ExcessHet=9.6308;FS=1.817;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=56.98;MQRankSum=-1.456e+01;QD=2.02;ReadPosRankSum=-2.106e+00;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:383,48:431:99:0|1:94876737_C_A:863,0,15852:94876737	9	0	12	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P	.	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.125	B	0.085	B	0.131	N	1.000	N	2.43	M	4.2	T	-0.996	T	0.012	T	0.464	1.473	10.87	1.2	0.866	-1.017	2.624	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Uncertain significance	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	10071.42	352	chr2	94876740	.	A	C	10071.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-1.875e+00;DP=5568;ExcessHet=9.6308;FS=1.912;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=57.10;MQRankSum=-1.500e+01;QD=2.08;ReadPosRankSum=-2.492e+00;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:379,48:427:99:0|1:94876737_C_A:875,0,15736:94876737	9	0	12	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	0/1:196,59:255:99:.:.:1277,0,5542	0	0	21	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H,	.	.	432	686	404	0	0	404	0.227477	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	.	.	1.000	N	0.235	N	2.59	T	-0.942	T	0.018	T	0.062	0.675	7.614	-0.833	0.028	1.770	6.110	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7228.38	236	chr2	95855406	.	C	G	7228.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.43;DP=5612;ExcessHet=17.4423;FS=6.424;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=53.45;MQRankSum=-6.363e+00;QD=1.79;ReadPosRankSum=-3.638e+00;SOR=1.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:245,32:277:99:.:.:156,0,7357	6	0	15	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S,	.	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	.	.	1.000	N	-0.55	N	2.62	T	-0.930	T	0.011	T	0.014	-2.217	0.005	-0.838	-0.224	0.602	6.069	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	75221.74	386	chr2	95855549	.	T	C	75221.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.304e+00;DP=7464;ExcessHet=54.0936;FS=12.010;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=44.23;MQRankSum=-1.248e+01;QD=10.32;ReadPosRankSum=0.574;SOR=1.209	GT:AD:DP:GQ:PL	0/1:194,172:366:99:3759,0,5394	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	0/1:200,122:322:99:.:.:3442,0,5727	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	0/1:252,47:299:99:589,0,9883	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	0/1:204,88:292:99:.:.:2383,0,5813	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	0/1:97,11:108:33:.:.:33,0,3974	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|1:135,37:172:99:0|1:95859969_A_AT:1147,0,5462:95859969	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|1:136,37:173:99:0|1:95859969_A_AT:1144,0,5484:95859969	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|1:135,37:172:99:0|1:95859969_A_AT:1147,0,5480:95859969	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	0/1:133,32:165:99:865,0,3548	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|1:125,27:152:99:0|1:95860002_T_A:756,0,5112:95860002	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|1:123,26:149:99:0|1:95860002_T_A:720,0,5062:95860002	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|1:110,21:131:99:0|1:95860020_G_A:551,0,4546:95860020	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|1:110,22:132:99:0|1:95860020_G_A:593,0,4543:95860020	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	0/1:90,19:109:99:528,0,2656	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|1:144,37:181:99:0|1:95927222_G_GAT:1120,0,5935:95927222	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|1:149,49:198:99:0|1:95927222_G_GAT:1609,0,6109:95927222	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|1:153,61:214:99:0|1:95927222_G_GAT:2101,0,6241:95927222	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|1:175,98:273:99:0|1:95927222_G_GAT:3588,0,7053:95927222	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|1:191,131:322:99:0|1:95927222_G_GAT:4926,0,7584:95927222	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|1:192,133:325:99:0|1:95927222_G_GAT:4966,0,7532:95927222	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|1:141,77:218:99:0|1:95929092_T_C:2664,0,5668:95929092	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|1:161,90:251:99:0|1:95929092_T_C:3294,0,6489:95929092	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|1:176,115:291:99:0|1:95929092_T_C:4299,0,7044:95929092	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|1:179,120:299:99:0|1:95929092_T_C:4500,0,7155:95929092	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|1:180,123:303:99:0|1:95929092_T_C:4605,0,7142:95929092	1	0	20	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	0/1:25,32:57:99:927,0,714	18	0	3	0
chr2	96612530	96612530	C	T	exonic	KANSL3	.	nonsynonymous SNV	KANSL3:NM_001349262:exon6:c.G262A:p.G88S	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.619	P	0.268	B	0.000	D	1.000	D	0.755	N	1.09	T	-1.080	T	0.077	T	0.207	3.284	17.03	5.42	2.821	3.517	10.025	0.047	0.00813550108923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.25355	T	0.185	0.28958	T	0.094	0.25382	B	0.038	0.23361	B	0.000002	0.62929	D	0.059064	0.990162	0.41101	D	1.1	0.28011	L	1.09	0.39223	T	-1.57	0.37955	N	0.324	0.36464	-1.0802	0.07310	T	0.077	0.30798	T	10	0.15968692	0.29998	T	0.008136	0.21572	T	0.047	0.12962	.	.	0.2419029386	0.23804	0.7049297246208993	0.70434	0.316727296747	0.33929	0.63823133707	0.58313	T	.	.	.	-0.176553	0.24249	T	-0.491383	0.23245	T	0.725200355052948	0.41963	D	0.881012	0.63166	D	.	.	.	.	.	.	.	.	-10.783	0.78454	D	.	.	0.089	0.11989	B	.;.	.;.	4.849705	0.79257	27.1	0.99659041348824129	0.77820	0.91241	0.53137	D	AEFBI	0.232261	0.35536	N	0.103198693304339	0.46611	2.898876	0.27652483838553	0.54173	3.582992	0.927469831184507	0.26889	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	2.873000	0.48173	7.663000	0.64347	0.599000	0.40250	0.960000	0.33603	1.000000	0.68203	0.998000	0.85391	0.0:0.9112:0.0:0.0888	10.025	0.41240	204	0.92044	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1587.98	36	chr2	96612530	.	C	T	1587.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.572e+00;DP=823;ExcessHet=0.0000;FS=3.074;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-1.690e-01;SOR=0.482	GT:AD:DP:GQ:PL	0/1:74,64:138:99:1602,0,2116	20	0	1	0
chr2	96861135	96861135	C	T	exonic	SEMA4C	.	nonsynonymous SNV	SEMA4C:NM_017789:exon15:c.G1993A:p.V665M,	.	.	0	1507	15	0	0	15	0.00495213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.999	D	0.942	D	0.003	N	0.999	D	0	N	2.12	T	-1.026	T	0.061	T	0.518	2.704	15.00	4.79	2.474	2.343	16.763	0.097	0.00968373380397	0.0013	0.000399361	0.0015	0.0002	0.0010	0	0	0.0023	0.0012	0.0009	0.001326	205	154602	rs145704940	0.0015	0.0015	0.0015	0.0014	0.0043	0.0014	0.0014	0.0030	0.0026	0.0001	0.0010	0.0086	0	7.783e-05	0.0043	0.0015	0.0018	0.0006	0.0011	0.0011	0.0011	0.0012	0.0021	0.0010	0.0009	0.0015	0.0013	0.0003	0.0088	0.0021	0.0066	0	0	0.0034	0.0013	0.0024	0.0004	0.152	0.24468	T	0.293	0.20811	T	0.976	0.58310	D	0.656	0.52685	P	0.002676	0.36137	N	0.000000	0.999046	0.45943	D	0.895	0.22405	L	2.12	0.19726	T	-0.5	0.15782	N	0.382	0.42345	-1.0259	0.21788	T	0.061	0.25455	T	10	0.00953415	0.00215	T	0.009684	0.25290	T	0.097	0.27909	.	.	0.213499824651	0.20940	0.4434375553681654	0.44261	0.428623133953	0.43178	0.7696839571	0.77376	T	0.073317	0.34669	T	-0.439954	0.01294	T	-0.412004	0.31993	T	0.0189556598157604	0.00605	T	0.839216	0.51320	T	0.102813445	0.24296	0.09058367	0.21250	0.102813445	0.24296	0.09058367	0.21249	-6.407	0.49564	T	.	.	0.250	0.48489	B	.	.	3.393932	0.47007	22.4	0.9976531368697239	0.85417	0.82220	0.41481	D	AEFDBCI	0.445626	0.50202	N	0.28218476727881	0.55244	3.689	0.345201311901681	0.58219	3.991192	0.999992891778158	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.79	4.79	0.60909	1.197000	0.31819	5.960000	0.51806	0.599000	0.40250	0.599000	0.27739	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	16.763	0.85378	115	0.95340	.	.	.	.	.	.	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	955.98	34	chr2	96861135	.	C	T	955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=0.734;SOR=0.657	GT:AD:DP:GQ:PL	0/1:40,37:77:99:970,0,980	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|1:129,23:152:99:0|1:97185336_GC_G:577,0,5338:97185336	3	0	18	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X,	.	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	3.980	20.4	-2.12	-0.664	0.022	1.483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	8253.51	130	chr2	97185340	.	C	G	8253.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-6.260e-01;DP=3017;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.09;MQRankSum=-5.804e+00;QD=3.07;ReadPosRankSum=0.809;SOR=0.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,23:151:99:0|1:97185336_GC_G:580,0,5305:97185336	3	0	18	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5,	.	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8208.47	129	chr2	97185341	.	A	AG	8208.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-5.080e-01;DP=3032;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.00;MQRankSum=-5.688e+00;QD=3.04;ReadPosRankSum=0.926;SOR=0.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,23:153:99:0|1:97185336_GC_G:574,0,5389:97185336	3	0	18	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8186.47	138	chr2	97185345	.	GTAAT	G	8186.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.550e-01;DP=3160;ExcessHet=30.0624;FS=4.006;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.27;MQRankSum=-5.168e+00;QD=2.89;ReadPosRankSum=1.92;SOR=0.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,23:161:99:0|1:97185336_GC_G:550,0,5687:97185336	3	0	18	0
chr2	97243965	97243965	C	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4427A:p.P1476Q,	.	.	591	842	87	2	0	91	0.0512676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	N	-1.815	N	2.52	T	-0.941	T	0.006	T	0.101	-1.688	0.012	0.145	0.033	0.804	2.431	0.044	0.000600742623665	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879789998	6.907e-07	6.843e-07	0	1.389e-06	2.324e-05	0	0	.	.	0	2.324e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.01938	T	0.828	0.03739	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.445	0.00556	N	2.52	0.14160	T	4.39	0.00039	N	0.233	0.26233	-0.9411	0.42442	T	0.006	0.02093	T	9	0.030890793	0.01219	T	6.01E-4	0.00274	T	0.044	0.11924	.	.	0.0401082797425	0.02173	.	.	.	.	0.80995708704	0.83485	D	0.007683	0.07071	T	-0.355694	0.04379	T	-0.748706	0.03536	T	0.0436866157378679	0.04362	T	0.315568	0.06252	T	0.02105173	0.00688	0.043300506	0.05356	0.02105173	0.00688	0.043300506	0.05356	.	.	.	.	.	0.071	0.03925	B	.;.	.;.	0.290474	0.06670	3.169	0.19759172413942741	0.00681	0.00555	0.02537	N	AEFI	0.011953	0.00118	N	-1.76782903256606	0.00629	0.02711347	-1.6686180707587	0.01283	0.05784733	1.10704589977209E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.145	0.14124	1.831000	0.38781	2.064000	0.30409	-0.484000	0.05061	0.987000	0.36337	0.011000	0.20116	0.002000	0.04165	0.4439:0.2817:0.0:0.2744	2.431	0.04199	198	0.92335	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	754.31	35	chr2	97243965	.	C	A	754.31	.	AC=5;AF=0.125;AN=40;BaseQRankSum=2.65;DP=1587;ExcessHet=1.2264;FS=21.000;InbreedingCoeff=-0.1429;MLEAC=5;MLEAF=0.125;MQ=39.13;MQRankSum=-3.457e+00;QD=1.01;ReadPosRankSum=-7.390e-01;SOR=2.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,11:141:50:0|1:97243955_G_A:50,0,5289:97243955	15	0	5	1
chr2	97243982	97243982	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.A4444G:p.K1482E,	.	.	594	783	141	4	0	149	0.0868805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.996	D	0.981	D	.	.	1.000	N	1.04	L	2.27	T	-1.043	T	0.055	T	0.127	0.368	5.998	0.142	0.033	0.116	4.893	0.034	0.000813122360056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879765967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.27	0.17431	T	-1.46	0.35792	N	0.191	0.20925	-1.0431	0.16383	T	0.055	0.23375	T	9	0.088907	0.15351	T	8.13E-4	0.00649	T	0.034	0.08419	.	.	0.0482279557977	0.04254	.	.	.	.	0.827668607235	0.86205	D	0.021647	0.16823	T	-0.288376	0.09799	T	-0.652008	0.08814	T	0.0863367564439753	0.10777	T	0.369363	0.08678	T	0.08514416	0.19738	0.10756626	0.25897	0.08514416	0.19737	0.10756626	0.25896	.	.	.	.	.	0.159	0.35183	B	.;.	.;.	0.562033	0.09308	6.087	0.3763639411248757	0.02492	0.01858	0.05739	N	AEFI	0.031364	0.03344	N	-1.15756630415575	0.05656	0.2584313	-1.32943360964929	0.04054	0.1904441	1.15881377853183E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.142	0.14111	0.033000	0.13642	-8.971000	0.00886	-0.471000	0.05090	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.8106:0.0:0.1894:0.0	4.893	0.13094	198	0.92335	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	2721.84	153	chr2	97243982	.	A	G	2721.84	.	AC=10;AF=0.250;AN=40;BaseQRankSum=1.96;DP=2009;ExcessHet=6.5132;FS=12.145;InbreedingCoeff=-0.3324;MLEAC=10;MLEAF=0.250;MQ=38.40;MQRankSum=-3.421e+00;QD=1.82;ReadPosRankSum=0.177;SOR=1.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,17:135:99:0|1:97243981_C_T:359,0,4863:97243981	10	0	10	1
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V,	.	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.566	P	0.11	B	.	.	1.000	N	-0.695	N	2.35	T	-1.001	T	0.013	T	0.162	0.638	7.428	-0.226	0.036	-0.164	4.757	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	198	0.92335	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	3278.89	148	chr2	97243989	.	C	T	3278.89	.	AC=10;AF=0.250;AN=40;BaseQRankSum=0.381;DP=2004;ExcessHet=6.5132;FS=9.348;InbreedingCoeff=-0.3333;MLEAC=10;MLEAF=0.250;MQ=38.06;MQRankSum=-3.253e+00;QD=2.26;ReadPosRankSum=0.655;SOR=1.076	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,18:130:99:0|1:97243981_C_T:419,0,4649:97243981	10	0	10	1
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V,	.	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	66907.47	297	chr2	97513220	.	G	A	66907.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-8.080e-01;DP=4067;ExcessHet=51.1880;FS=3.353;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=36.93;MQRankSum=-3.978e+00;QD=16.47;ReadPosRankSum=0.728;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,90:227:99:0|1:97513219_T_C:3367,0,5482:97513219	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|1:142,97:239:99:0|1:97513219_T_C:3606,0,5650:97513219	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|1:165,120:285:99:0|1:97513244_G_T:4543,0,6507:97513244	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|1:165,129:294:99:0|1:97513244_G_T:4900,0,6518:97513244	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|1:165,129:294:99:0|1:97513244_G_T:4900,0,6518:97513244	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|1:162,141:303:99:0|1:97513268_C_T:5413,0,6378:97513268	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|1:168,145:313:99:0|1:97513268_C_T:5519,0,6577:97513268	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|1:168,146:314:99:0|1:97513268_C_T:5558,0,6574:97513268	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|1:165,147:312:99:0|1:97513268_C_T:5528,0,6402:97513268	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	0/1:105,86:191:99:1990,0,2502	0	0	20	1
chr2	107872362	107872362	-	GGCAGAC	exonic	RGPD4	.	frameshift insertion	RGPD4:NM_182588:exon20:c.4358_4359insGGCAGAC:p.S1456Cfs*5,	.	.	151	1362	9	0	0	9	0.00329308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs748128496	0.0017	0.0017	0.0017	0.0017	0.0017	0.0016	0.0016	0.0015	0.0015	0.0002	0.0005	0	0	0.0097	0.0017	0.0015	0.0020	0.0014	0.0014	0.0016	0.0013	0.0015	0.0015	0.0013	0.0012	0.0012	0.0011	0.0002	0	0.0013	0	0	0.0080	0	0.0015	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4289.05	34	chr2	107872362	.	T	TGGCAGAC	4289.05	.	AC=2;AF=0.048;AN=42;DP=957;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=30.66;QD=34.43;SOR=2.325	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,107:107:99:1|1:107872362_T_TGGCAGAC:4317,316,0:107872362	20	1	0	0
chr2	107872363	107872363	-	CGTTTTCGTTTTAAACTACAGGATGTG	exonic	RGPD4	.	nonframeshift insertion	RGPD4:NM_182588:exon20:c.4359_4360insCGTTTTCGTTTTAAACTACAGGATGTG:p.V1453_A1454insRFRFKLQDV,	.	.	151	1357	9	0	5	14	0.00330518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs769666020	0.0017	0.0017	0.0017	0.0017	0.0017	0.0016	0.0016	0.0015	0.0015	0.0002	0.0005	0	0	0.0097	0.0017	0.0015	0.0020	0.0014	0.0014	0.0016	0.0012	0.0016	0.0014	0.0012	0.0012	0.0012	0.0011	0.0002	0	0.0013	0	0	0.0078	0	0.0014	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4294.05	34	chr2	107872363	.	T	TCGTTTTCGTTTTAAACTACAGGATGTG	4294.05	.	AC=2;AF=0.048;AN=42;DP=950;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=30.27;QD=29.74;SOR=2.325	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,107:107:99:1|1:107872362_T_TGGCAGAC:4322,319,0:107872362	20	1	0	0
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	2/2:0,0,205:205:99:.:.:9229,9229,9229,625,625,0	3	5	3	0
chr2	112165024	112165024	C	G	exonic	FBLN7	.	nonsynonymous SNV	FBLN7:NM_001128165:exon3:c.C259G:p.P87A	.	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	1.0	D	1.0	D	0.000	D	1.000	D	3.145	M	1.75	T	-0.761	T	0.148	T	0.754	4.322	22.7	5.6	2.649	6.545	18.392	0.293	0.0291919625702	0.0034	0.00119808	0.0027	0.0010	0.0024	0	0.0017	0.0040	0	0.0003	0.0029236	452	154602	rs35747528	0.0040	0.0040	0.0042	0.0039	0.0048	0.0039	0.0039	0.0047	0.0046	0.0005	0.0020	0.0066	0	0.0013	0.0007	0.0048	0.0032	0.0002	0.0029	0.0029	0.0031	0.0026	0.0046	0.0026	0.0026	0.0042	0.0040	0.0009	0	0.0025	0.0104	0	0.0007	0	0.0046	0.0028	0.0002	0.017	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.58	0.93551	H	1.75	0.26152	T	-3.94	0.80767	D	0.804	0.79986	-0.7613	0.57334	T	0.148	0.47469	T	10	0.029582739	0.01084	T	0.029192	0.51742	D	0.293	0.61272	.	.	0.595645824669	0.59243	0.7020894349918074	0.70149	0.970211370179	0.73337	0.503804981709	0.39357	T	0.162206	0.50677	T	-0.232382	0.16335	T	-0.104243	0.63066	T	0.0444365512128051	0.04499	T	0.905309	0.66640	D	0.7587532	0.81379	0.44956213	0.67962	0.7587532	0.81381	0.44956213	0.67962	-14.444	0.94410	D	.	.	0.276	0.67861	B	.;.;.;.	.;.;.;.	3.422025	0.47522	22.5	0.99529157896840115	0.69777	0.99208	0.92825	D	AEFDBI	0.797793	0.72453	D	0.623987116059207	0.74694	6.176488	0.546391348787505	0.71146	5.610708	0.999999998959456	0.74766	0.516011	0.20929	0	0.547309	0.14657	0	0.577349	0.28860	0	0.567892	0.33627	0	.	.	5.6	5.6	0.84997	6.664000	0.74280	7.507000	0.59567	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.410000	0.27006	0.0:1.0:0.0:0.0	18.392	0.90430	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	0.04762	4280.08	35	chr2	112165024	.	C	G	4280.08	.	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=29.32;SOR=0.967	GT:AD:DP:GQ:PL	1/1:0,146:146:99:4308,438,0	20	1	0	0
chr2	121736754	121736754	T	C	exonic	NIFK	.	nonsynonymous SNV	NIFK:NM_032390:exon1:c.A97G:p.I33V,	.	.	419	1071	32	0	0	32	0.0147194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.001	B	0.001	B	0.920	N	1.000	N	1.39	L	2.38	T	-0.967	T	0.021	T	0.057	0.358	5.944	-0.361	-0.211	0.124	3.592	0.015	0.00365381184315	0.0005	0.00219649	0.0011	0	0.0011	0	0	0.0012	0.0022	0.0024	0.0010543	163	154602	rs150674424	0.0008	0.0008	0.0006	0.0009	0.0127	0.0007	0.0007	0.0103	0.0095	0.0003	0.0019	0.0003	0	3.744e-05	0.0127	0.0006	0.0016	0.0021	0.0006	0.0006	0.0005	0.0007	0.0021	0.0005	0.0005	0.0012	0.0011	0.0002	0	0.0018	0	0.0002	0	0.0068	0.0005	0.0028	0.0021	0.78	0.22920	T	0.72	0.35082	T	0.001	0.07471	B	0.001	0.04355	B	0.919597	0.08496	N	0.962951	1	0.08975	N	0	0.06538	N	2.38	0.15843	T	0.0	0.12661	N	0.05	0.02179	-0.9671	0.37794	T	0.021	0.09009	T	10	0.00405547	0.00079	T	0.003654	0.08402	T	0.015	0.02232	.	.	0.340510301474	0.33666	0.21560032084306935	0.21476	0.0938221672316	0.10595	0.281098932028	0.07646	T	0.012792	0.11182	T	-0.701879	0.00036	T	-0.787144	0.02244	T	0.0225315469418144	0.00969	T	0.318868	0.10241	T	0.032420773	0.03264	0.033643756	0.02295	0.032420773	0.03264	0.033643756	0.02294	-3.715	0.19540	T	.	.	0.073	0.33179	B	.;.	.;.	0.992886	0.13709	10.25	0.76246405758181179	0.11391	0.00590	0.02647	N	ALL	0.019555	0.00689	N	-1.20663186720539	0.04901	0.2222544	-1.28291433113126	0.04661	0.2203831	0.99999999999498	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.3	-0.361	0.11939	0.123000	0.15536	0.233000	0.16214	0.490000	0.22344	0.006000	0.17386	0.000000	0.08366	0.041000	0.14368	0.0:0.4952:0.2008:0.304	3.592	0.07540	818	0.41518	.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3939.66	36	chr2	121736754	.	T	C	3939.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-6.920e-01;DP=856;ExcessHet=0.0000;FS=1.382;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.63;ReadPosRankSum=-3.960e-01;SOR=0.868	GT:AD:DP:GQ:PL	1/1:0,111:111:99:3229,333,0	19	1	1	0
chr2	130120179	130120179	T	0	exonic	POTEF	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	88519.64	228	chr2	130120179	.	T	C,*	88519.64	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=-4.490e-01;DP=4771;ExcessHet=0.1361;FS=7.097;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=44.81;MQRankSum=-1.564e+01;QD=20.24;ReadPosRankSum=1.33;SOR=1.210	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,244,0:244:99:.:.:7412,733,0,7794,754,9134	4	10	6	0
chr2	131046047	131046047	G	A	exonic	ARHGEF4	.	nonsynonymous SNV	ARHGEF4:NM_001375903:exon10:c.G1721A:p.R574Q	.	.	436	1076	10	0	0	10	0.00462535	.	.	3191776	ARHGEF4-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.37	T	0.999	D	0.848	P	0.000	D	1.000	D	0.895	L	1.32	T	-0.967	T	0.155	T	0.618	3.035	16.13	4.83	1.420	4.155	12.493	0.161	.	.	0.00479233	0.0018	0	8.655e-05	0	0	7.665e-05	0.0011	0.0128	0.0015524	240	154602	rs528934869	0.0008	0.0008	0.0005	0.0011	0.0116	0.0008	0.0007	0.0110	0.0107	5.978e-05	0	0	5.045e-05	0	0.0017	7.474e-05	0.0010	0.0116	0.0006	0.0006	0.0004	0.0008	0.0149	0.0005	0.0004	0.0122	0.0111	4.812e-05	0	6.533e-05	0	0	0	0	0.0001	0.0005	0.0149	0.154	0.44358	T	0.338	0.37589	T	0.999	0.77913	D	0.848	0.60574	P	0.000001	0.62929	D	0.053681	0.999714	0.81001	D	1.75	0.45442	L	1.32	0.47815	T	-0.99	0.26200	N	0.089	0.38335	-0.9670	0.37814	T	0.155	0.48585	T	10	0.006344646	0.00143	T	.	.	.	0.161	0.41658	.	.	0.855232234654	0.85383	0.39499465036624204	0.39414	0.23784296459	0.26331	0.306786000729	0.11421	T	0.01817	0.33316	T	-0.3605	0.04102	T	-0.280222	0.46781	T	0.0713917149893983	0.08845	T	0.864713	0.56210	D	0.116076715	0.27383	0.065911695	0.13428	0.116076715	0.27383	0.065911695	0.13427	-3.861	0.22632	T	.	.	0.090	0.23640	B	.;.;.;.;.;.	.;.;.;.;.;.	4.182598	0.62975	24.5	0.99658986777332981	0.77820	0.89590	0.50152	D	AEFDBCI	0.460313	0.51055	N	0.315934979267973	0.56967	3.862374	0.360278318778664	0.59129	4.08827	0.999999071813254	0.74766	0.634777	0.41761	0	0.572659	0.20510	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	5.71	4.83	0.61880	3.611000	0.53881	.	.	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.340000	0.25432	0.0812:0.0:0.9188:0.0	12.493	0.55251	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	667.11	34	chr2	131046047	.	G	A	667.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.54;DP=711;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=0.831;SOR=0.559	GT:AD:DP:GQ:PL	0/1:11,10:21:99:281,0,278	19	0	2	0
chr2	131532730	131532730	C	T	exonic	CCDC74A	.	nonsynonymous SNV	CCDC74A:NM_001349041:exon5:c.C704T:p.A235V	.	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	.	.	.	.	.	.	1.000	D	.	.	0.82	T	-0.905	T	0.144	T	.	1.345	10.42	-2.01	-0.312	-1.157	5.909	0.024	.	.	.	3.325e-05	9.699e-05	8.666e-05	0.0001	0	0	0	6.144e-05	3.84e-05	1	26028	rs769502307	1.779e-05	1.847e-05	1.226e-05	2.338e-05	0.0001	1.238e-05	1.052e-05	5.396e-05	4.042e-05	2.988e-05	4.474e-05	0	0.0001	0	0	3.598e-06	8.284e-05	0.0001	1.315e-05	1.97e-05	0	2.692e-05	0.0002	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	0	0	0.0002	0.007	0.59928	D	0.035	0.52389	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.82	0.48142	T	-0.31	0.12099	N	.	.	-0.9052	0.47424	T	0.144	0.46678	T	6	0.07405859	0.11272	T	.	.	.	0.024	0.04979	0.241	0.17371	0.357313475932	0.35345	.	.	.	.	.	.	.	0.024174	0.18318	T	-0.299912	0.08668	T	-0.368256	0.37093	T	0.0236171637512177	0.01097	T	0.257674	0.04066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	0.42361	B	.	.	-0.306494	0.02589	0.319	0.97680349843966441	0.35311	0.00998	0.03780	N	AEFI	0.014932	0.00259	N	-0.554988304395345	0.20327	1.070768	-0.700373456901495	0.16951	0.8991216	1.71045719538904E-6	0.01202	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	2.66	-2.01	0.07003	-1.291000	0.02883	.	.	-1.790000	0.00639	0.189000	0.24175	0.000000	0.08366	0.046000	0.14843	0.0:0.5016:0.0:0.4984	5.909	0.18260	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1875.98	34	chr2	131532730	.	C	T	1875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.710e-01;DP=868;ExcessHet=0.0000;FS=2.731;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.92;MQRankSum=-3.700e+00;QD=11.04;ReadPosRankSum=1.09;SOR=0.491	GT:AD:DP:GQ:PL	0/1:93,77:170:99:1890,0,2315	20	0	1	0
chr2	140297882	140297882	G	C	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon84:c.C12893G:p.T4298S,	.	.	424	1084	14	0	0	14	0.00641613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	N	0.998	N	1.25	L	-2.84	D	-0.685	T	0.555	D	0.215	1.887	12.27	4.22	0.830	3.359	16.953	0.032	.	0.0010	0.00299521	0.0034	0.0003	0.0003	0.0001	0.0005	0.0012	0.0055	0.0190	0.0028137	435	154602	rs139037100	0.0017	0.0017	0.0011	0.0023	0.0184	0.0017	0.0016	0.0177	0.0174	0.0001	0.0004	0	5.038e-05	0.0009	0.0106	0.0006	0.0019	0.0184	0.0012	0.0012	0.0008	0.0017	0.0178	0.0011	0.0010	0.0148	0.0136	0.0001	0	0.0005	0	0	0.0008	0.0374	0.0009	0.0019	0.0178	0.442	0.09209	T	0.284	0.21411	T	0.0	0.02946	B	0.001	0.04355	B	0.000109	0.50451	N	0.130013	0.998452	0.22144	N	0.815	0.20815	L	-2.84	0.91305	D	-0.22	0.10480	N	0.28	0.31702	-0.6855	0.61118	T	0.555	0.83724	D	10	0.015747458	0.00331	T	.	.	.	0.195	0.47612	0.649	0.78648	0.218628672733	0.21463	0.1679552820358811	0.16715	0.285637648244	0.30974	0.330537110567	0.15016	T	0.084294	0.37246	T	-0.383137	0.02976	T	-0.308189	0.43852	T	0.0083881208771369	0.00101	T	0.667933	0.27701	T	0.042513836	0.06460	0.07768738	0.17330	0.042513836	0.06460	0.07768738	0.17330	-4.086	0.25083	T	.	.	0.064	0.01645	B	.	.	2.420397	0.31122	18.65	0.95688805439664215	0.27562	0.92811	0.56603	D	AEFI	0.366072	0.45402	N	-0.362405289579466	0.26820	1.466643	-0.174002716665161	0.32495	1.849358	0.00102793260765266	0.08137	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.08	4.22	0.49153	3.451000	0.52727	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.2653:0.7347:0.0	16.953	0.86120	927	0.17636	EGF-like domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2055.11	33	chr2	140297882	.	G	C	2055.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.66;DP=872;ExcessHet=0.1072;FS=0.504;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=-1.480e-01;SOR=0.630	GT:AD:DP:GQ:PL	0/1:68,56:124:99:1233,0,1675	19	0	2	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	0/1:14,11,0,0:25:99:197,0,287,239,320,559,239,320,559,559	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	0/1:14,11,0,0:25:99:197,0,287,239,320,559,239,320,559,559	1	6	10	0
chr2	151437270	151437270	C	T	exonic	RIF1	.	nonsynonymous SNV	RIF1:NM_001177665:exon12:c.C1402T:p.P468S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.237	B	0.061	B	0.001	N	1.000	D	0.68	N	2.59	T	-1.010	T	0.018	T	0.254	-0.334	2.418	4.64	1.327	1.249	5.981	0.057	0.00606981021827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.736e-06	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	0.10148	T	0.412	0.14456	T	0.074	0.30795	B	0.014	0.26820	B	0.000794	0.41772	N	0.278541	0.997074	0.81001	D	1.87	0.49600	L	2.58	0.13434	T	-2.9	0.60827	D	0.287	0.33250	-1.0097	0.27012	T	0.018	0.07565	T	10	0.10432607	0.19227	T	0.00607	0.15875	T	0.080	0.23350	0.466	0.53729	0.292174397486	0.28832	0.3165661440825328	0.31569	0.0521512716169	0.05740	0.258996814489	0.04772	T	0.210743	0.57131	T	-0.213477	0.18892	T	-0.544422	0.17865	T	0.167132124304771	0.18383	T	0.787021	0.42899	T	0.060168862	0.12314	0.08558277	0.19771	0.060168862	0.12314	0.08558277	0.19770	-2.535	0.06025	T	.	.	0.074	0.06617	B	.;.;.;.;.	.;.;.;.;.	2.247093	0.28697	17.88	0.50167447680552057	0.04337	0.69529	0.34224	D	AEFDBCI	0.080389	0.16251	N	-0.447367299975786	0.23828	1.282456	-0.304127512702091	0.27966	1.555608	0.450275813185682	0.20534	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	4.64	0.57399	1.283000	0.32843	.	.	0.549000	0.26987	0.997000	0.40164	1.000000	0.68203	0.984000	0.60418	0.0:0.7309:0.0:0.2691	5.981	0.18641	833	0.38804	.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1478.98	40	chr2	151437270	.	C	T	1478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.051;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=-1.730e-01;SOR=0.742	GT:AD:DP:GQ:PL	0/1:78,69:147:99:1493,0,1739	20	0	1	0
chr2	151464121	151464121	C	G	exonic	RIF1	.	nonsynonymous SNV	RIF1:NM_001177665:exon29:c.C4601G:p.T1534R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	T	0.999	D	0.981	D	0.171	N	1.000	D	2.095	M	1.16	T	-0.898	T	0.199	T	0.575	3.851	19.56	5.55	2.595	2.844	19.094	0.231	0.0132042069465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44694	D	0.056	0.46632	T	0.999	0.77913	D	0.957	0.75168	D	0.171475	0.17362	N	0.621086	0.994898	0.42460	D	2.615	0.76484	M	1.16	0.38073	T	-2.29	0.53258	N	0.578	0.66101	-0.8978	0.48214	T	0.199	0.55428	T	10	0.3823325	0.54287	T	0.013204	0.32416	T	0.231	0.53208	0.329	0.31357	0.344740032716	0.34089	0.10112074737717566	0.10043	0.319352230319	0.34135	0.627508878708	0.56792	T	0.279477	0.65216	T	-0.0347253	0.46727	T	-0.287657	0.46015	T	0.864834904670715	0.51498	D	0.825917	0.48908	T	0.18288364	0.39528	0.2175544	0.46425	0.18288364	0.39528	0.2175544	0.46424	-4.144	0.26665	T	.	.	0.417	0.75917	A	.;.;.;.;.	.;.;.;.;.	4.469169	0.69627	25.4	0.99430700976920905	0.64227	0.88774	0.48864	D	AEFBHCI	0.410756	0.48150	N	0.495360197193954	0.66819	4.999667	0.504198096372787	0.68274	5.197273	0.99999999655051	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.55	5.55	0.83298	3.117000	0.50099	.	.	0.599000	0.40250	0.969000	0.34210	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.094	0.93227	806	0.43582	.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1339.98	69	chr2	151464121	.	C	G	1339.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.201e+00;DP=1490;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=0.322;SOR=0.765	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1354,0,1491	20	0	1	0
chr2	151494220	151494220	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon141:c.G18916A:p.A6306T	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	YES	0	1512	10	0	0	10	0.00329598	.	.	268544	NEB-related_disorder|Nemaline_myopathy_2|Inborn_genetic_diseases|not_provided	.|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.43	T	0.741	P	0.353	B	0.000	U	1.000	N	0.59	N	4.19	T	-1.031	T	0.083	T	0.245	3.714	18.86	5.09	0.872	4.337	11.822	0.101	0.0137481650275	0.0002	0.000199681	0.0005	0.0002	0.0004	0.0008	0.0005	0.0007	0	9.295e-05	0.0002781	43	154602	rs199937246	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0001	0.0010	0.0009	0	0.0002	0.0021	0.0013	0.0002	0.0017	8.127e-05	0.0002	0.0001	0.0002	0.0002	0.0001	0.0003	0.0006	0.0001	0.0001	0.0003	0.0002	2.407e-05	0	0.0005	0.0014	0.0006	0.0002	0.0034	0.0001	0	0	0.518	0.22053	T	0.021	0.58089	D	0.441	0.35913	B	0.295	0.40843	B	0.000230	0.47286	U	0.000000	0.999779	0.25682	N	1.32	0.33002	L	3.41	0.06762	T	-0.51	0.18248	N	0.236	0.39659	-1.0309	0.20163	T	0.083	0.32556	T	10	0.01606229	0.00338	T	0.013748	0.33388	T	0.101	0.28911	.	.	0.254244900254	0.25046	0.3045127982899019	0.30364	0.0589775743183	0.06548	0.593151688576	0.51938	T	0.007275	0.42647	T	-0.468076	0.00874	T	-0.551554	0.17178	T	0.0387018168484422	0.03457	T	0.0378962	0.00365	T	0.042454317	0.06440	0.07351266	0.15982	0.042454317	0.06440	0.07351266	0.15982	-4.378	0.29257	T	.	.	0.078	0.06849	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.510739	0.49159	22.7	0.99081564706982561	0.51978	0.89506	0.50014	D	AEFGBI	0.395881	0.47257	N	-0.00303373769510563	0.41719	2.500405	0.120164528702445	0.45583	2.818768	0.710884306126665	0.22818	0.615465	0.37627	0	0.588015	0.36545	0	0.608075	0.38828	0	0.655142	0.61905	0	.	.	5.96	5.09	0.68647	4.647000	0.61115	.	.	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0663:0.1236:0.8101:0.0	11.822	0.51521	800	0.44535	.;.;.;.;.;.;.;.	.	.	.	.	.	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	1073.98	34	chr2	151494220	.	C	T	1073.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.148;DP=816;ExcessHet=0.0000;FS=1.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.33;ReadPosRankSum=0.613;SOR=0.515	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1088,0,1319	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	0/1:138,47:191:1:1,0,2946	3	0	15	3
chr2	164700559	164700559	T	C	exonic	COBLL1	.	nonsynonymous SNV	COBLL1:NM_001278461:exon9:c.A1423G:p.M475V	.	.	437	1079	6	0	0	6	0.00277264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.003	B	0.005	B	0.318	N	1.000	N	0	N	.	.	-1.050	T	0.038	T	0.078	2.046	12.80	2.8	0.925	0.915	8.044	0.016	.	0.0022	0.00199681	0.0035	0.0004	0.0004	0	0.0123	0.0043	0.0022	0.0029	0.00315	487	154602	rs141900576	0.0030	0.0030	0.0030	0.0030	0.0033	0.0029	0.0029	0.0030	0.0029	0.0004	0.0003	0.0001	2.521e-05	0.0122	0.0014	0.0029	0.0025	0.0033	0.0028	0.0028	0.0027	0.0028	0.0036	0.0026	0.0025	0.0033	0.0031	0.0002	0.0482	0.0010	0.0003	0	0.0087	0	0.0036	0.0009	0.0029	0.011	0.57480	D	0.145	0.37872	T	0.001	0.07471	B	0.004	0.10090	B	0.318224	0.14316	N	0.682893	0.999617	0.20864	N	0	0.06538	N	.	.	.	-0.78	0.21644	N	0.06	0.11340	-1.0497	0.14481	T	0.038	0.16505	T	9	0.0042711794	0.00086	T	.	.	.	0.016	0.02506	.	.	0.495172024023	0.49151	0.11217087330915451	0.11146	0.0509660031451	0.05602	0.2313554883	0.02070	T	0.00693	0.13730	T	-0.548757	0.00297	T	-0.55772	0.16591	T	0.0237639334106343	0.01115	T	0.835616	0.51177	T	0.13037585	0.30423	0.18405606	0.41434	0.13037585	0.30423	0.18405606	0.41433	-1.968	0.03062	T	.	.	0.064	0.01692	B	.;.;.;.	.;.;.;.	2.355718	0.30207	18.37	0.97296357865139094	0.33257	0.78929	0.39019	D	AEFDGBIJ	0.231509	0.35472	N	-0.464977114731216	0.23235	1.246307	-0.280005384960376	0.28757	1.605882	0.999995899434357	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.17	2.8	0.31881	0.909000	0.28180	0.687000	0.20730	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1607:0.0:0.8393	8.044	0.29697	879	0.29470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1647.98	33	chr2	164700559	.	T	C	1647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.175;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.48;ReadPosRankSum=0.218;SOR=0.693	GT:AD:DP:GQ:PL	0/1:37,63:100:99:1662,0,853	20	0	1	0
chr2	178567528	178567528	T	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.A51409C:p.T17137P	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.979	D	0.691	P	.	.	1.000	D	1.255	L	1.05	T	-0.765	T	0.128	T	0.525	1.244	10.05	4.46	0.920	2.240	9.761	0.233	0.0277203117503	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1364192252	2.056e-06	2.052e-06	2.726e-06	1.378e-06	0.0002	5.5e-07	1.5e-07	.	.	2.995e-05	0	0	0	0	0.0002	0	0	1.167e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	.	.	.	0.979	0.59044	D	0.691	0.53831	P	.	.	.	.	0.725602	0.33663	D	1.67	0.42885	L	1.05	0.39990	T	-3.6	0.69357	D	0.329	0.57946	-0.7646	0.57154	T	0.128	0.43503	T	9	0.22477317	0.39290	T	0.02772	0.50496	D	0.233	0.53499	0.46	0.52753	0.266843984389	0.26308	.	.	0.361612119172	0.37821	0.536002159119	0.43881	T	.	.	.	-0.148485	0.28549	T	-0.350435	0.39156	T	0.327650328597053	0.26130	T	0.90181	0.65830	D	.	.	.	.	.	.	.	.	-8.593	0.65043	D	.	.	0.394	0.59262	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.795039	0.36749	20.3	0.86013311777473667	0.16256	0.94335	0.60838	D	AEFBI	0.862397	0.78067	D	0.304277578341607	0.56369	3.801386	0.321787341604385	0.56824	3.846226	0.65728080602964	0.22231	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.65	4.46	0.53567	2.231000	0.42654	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.141:0.0:0.859	9.761	0.39702	436	0.80373	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|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	1	0	0	0	0	0	0	0.02381	3334.98	103	chr2	178567528	.	T	G	3334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.682;DP=2207;ExcessHet=0.0000;FS=2.230;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=-5.070e-01;SOR=0.537	GT:AD:DP:GQ:PL	0/1:111,122:233:99:3349,0,2951	20	0	1	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.482	17.82	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,10,6:37:35:.:.:35,0,269,56,289,821	0	0	8	4
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.361	17.33	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,10,6:37:35:.:.:35,0,269,56,289,821	0	0	8	4
chr2	189805814	189805814	-	A	exonic	PMS1	.	frameshift insertion	PMS1:NM_001321049:exon4:c.478dupA:p.L164Vfs*4,	.	.	439	771	31	0	281	312	0.0197076	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2849.26	33	chr2	189805813	.	TA	TAA,T	2849.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-9.480e-01;DP=1006;ExcessHet=1.7912;FS=0.538;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=6.80;ReadPosRankSum=-3.040e-01;SOR=0.630	GT:AD:DP:GQ:PL	0/1:27,19,0:46:99:353,0,596,434,653,1086	15	0	5	0
chr2	196000850	196000850	T	A	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon12:c.A1207T:p.I403F,	.	.	481	1038	3	0	0	3	0.001443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.001	B	0.001	B	0.634	N	1.000	D	2.175	M	2.72	T	-1.098	T	0.072	T	0.488	2.199	13.31	3.08	0.340	1.583	8.221	0.174	0.0108876960318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.385e-06	1.368e-06	1.377e-06	1.393e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.677e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.736	0.49613	T	0.009	0.66756	D	0.001	0.07471	B	0.001	0.04355	B	0.633749	0.10662	N	0.822306	0.998364	0.49637	D	2.535	0.73915	M	1.91	0.23283	T	-1.93	0.59059	N	0.451	0.51761	-1.0981	0.04328	T	0.072	0.29323	T	10	0.2057187	0.36808	T	0.010888	0.27936	T	0.174	0.44019	0.445	0.50302	0.183819452728	0.17975	0.4190143365557646	0.41817	0.0384574760045	0.04094	0.380378752947	0.22310	T	0.014127	0.12084	T	-0.114691	0.33995	T	-0.402522	0.33091	T	0.534706830978394	0.33908	D	0.835216	0.55630	T	0.15669921	0.35349	0.13765408	0.32898	0.15669921	0.35349	0.13765408	0.32897	-5.143	0.38357	T	.	.	0.218	0.44860	B	.;.	.;.	2.044579	0.25992	16.96	0.9536765169841015	0.26774	0.83654	0.42757	D	AEFHCI	0.563877	0.57089	D	-0.170581822401456	0.34363	1.960483	-0.0601837084746139	0.37054	2.164359	1.54429849853999E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.61	3.08	0.34576	1.594000	0.36307	1.450000	0.26598	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1779:0.0:0.8221	8.221	0.30701	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	0	0	0	0	0.04762	3386.11	40	chr2	196000850	.	T	A	3386.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.37;DP=952;ExcessHet=0.1072;FS=0.965;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.351;SOR=0.776	GT:AD:DP:GQ:PL	0/1:74,48:122:99:1267,0,1879	19	0	2	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	0/1:59,27:86:99:156,0,969	0	0	19	2
chr2	199819527	199819527	-	A	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441dupT:p.*148delinsLNLRSPL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:24,6,7,0:37:15:55,15,564,0,359,521,150,555,527,698	2	0	4	0
chr2	199819527	199819527	-	AA	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441_442insTT:p.*148delinsFKLEVPFMSHTLLMQEEL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:24,6,7,0:37:15:55,15,564,0,359,521,150,555,527,698	2	0	4	0
chr2	199925327	199925327	A	G	exonic	C2orf69	.	nonsynonymous SNV	C2orf69:NM_153689:exon2:c.A599G:p.N200S,	.	.	441	1058	22	1	0	24	0.011215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.016	B	0.029	B	0.001	D	0.729	D	0.205	N	.	.	-1.046	T	0.005	T	0.044	0.651	7.491	5.5	2.302	3.552	9.408	0.032	.	0.0046	0.0277556	0.0163	0.0014	0.0036	0.0982	0.0127	0.0061	0.0145	0.0339	0.015058	2328	154602	rs150129946	0.0091	0.0091	0.0084	0.0099	0.0775	0.0090	0.0089	0.0752	0.0743	0.0012	0.0036	0.0052	0.0775	0.0126	0.0061	0.0048	0.0125	0.0360	0.0084	0.0084	0.0071	0.0099	0.0907	0.0080	0.0079	0.0839	0.0812	0.0014	0	0.0061	0.0043	0.0907	0.0145	0.0034	0.0043	0.0109	0.0365	0.36	0.11919	T	0.806	0.03993	T	0.016	0.17332	B	0.029	0.21540	B	0.000849	0.41440	D	0.261542	0.72905	0.33699	D	0.69	0.16971	N	.	.	.	-0.79	0.21860	N	0.028	0.00618	-1.0462	0.15476	T	0.005	0.01761	T	9	0.001547128	0.00018	T	.	.	.	0.032	0.07718	.	.	.	.	0.17443525607362523	0.17362	0.282605507449	0.30711	.	.	.	0.002084	0.01490	T	-0.642711	0.00080	T	-0.618509	0.11302	T	0.00639136410793986	0.00071	T	0.752925	0.37500	T	0.03661274	0.04537	0.04759537	0.06891	0.03661274	0.04537	0.04759537	0.06890	-3.096	0.11250	T	.	.	0.091	0.12985	B	.	.	1.962724	0.24933	16.58	0.95025572698175864	0.26014	0.92795	0.56564	D	AEFBI	0.155834	0.28109	N	-0.28007695657649	0.29918	1.663456	-0.0498607988241431	0.37496	2.196231	0.892599707885436	0.25887	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	2.398000	0.44140	7.121000	0.57595	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.988000	0.63387	0.9219:0.0:0.0781:0.0	9.408	0.37636	640	0.64132	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2817.11	33	chr2	199925327	.	A	G	2817.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.440e-01;DP=856;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=1.03;SOR=0.668	GT:AD:DP:GQ:PL	0/1:40,48:88:99:1367,0,1137	19	0	2	0
chr2	202821479	202821479	T	C	exonic	ICA1L	.	nonsynonymous SNV	ICA1L:NM_001288624:exon3:c.A238G:p.I80V	.	.	437	1050	33	2	0	37	0.017314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.004	B	0.009	B	0.001	N	1.000	D	0.69	N	-1.04	T	-0.944	T	0.114	T	0.161	2.415	14.03	2.03	0.487	0.057	1.124	0.161	.	0.0027	0.00299521	0.0038	0.0009	0.0046	0	0	0.0044	0.0078	0.0061	0.0037451	579	154602	rs144482724	0.0035	0.0035	0.0033	0.0036	0.0155	0.0034	0.0033	0.0129	0.0120	0.0010	0.0042	0.0112	2.535e-05	0.0004	0.0155	0.0033	0.0043	0.0062	0.0028	0.0028	0.0030	0.0026	0.0039	0.0026	0.0025	0.0035	0.0034	0.0009	0	0.0029	0.0098	0	0.0006	0.0170	0.0039	0.0062	0.0039	0.035	0.50676	D	0.008	0.72224	D	0.004	0.12183	B	0.009	0.14300	B	0.000505	0.43753	N	0.209861	1	0.81001	D	0.69	0.16971	N	-1.04	0.76561	T	-0.85	0.24026	N	0.095	0.07535	-0.9435	0.42057	T	0.114	0.40605	T	10	0.010987043	0.00242	T	.	.	.	0.161	0.41658	.	.	0.65404562455	0.65116	0.2827756610626727	0.28190	0.127220965103	0.14337	0.415514528751	0.27218	T	0.053694	0.29549	T	-0.424201	0.01609	T	-0.378944	0.35847	T	0.00587731285849128	0.00064	T	0.578142	0.21082	T	0.058083612	0.11641	0.074363604	0.16259	0.058083612	0.11641	0.074363604	0.16259	-3.237	0.26286	T	.	.	0.088	0.14293	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.060043	0.26190	17.03	0.98756593559104555	0.45739	0.80609	0.40202	D	AEFI	0.445910	0.50219	N	-0.394280166996794	0.25672	1.395341	-0.23245328244914	0.30381	1.710069	9.56336154837546E-4	0.08054	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.84	2.03	0.25714	-0.059000	0.11688	.	.	0.665000	0.62972	0.232000	0.24664	0.696000	0.26205	0.999000	0.91618	0.1493:0.1653:0.1552:0.5302	1.124	0.01624	754	0.51307	Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;.;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) 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	491.98	33	chr2	202821479	.	T	C	491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=745;ExcessHet=0.0000;FS=1.202;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=-4.580e-01;SOR=0.481	GT:AD:DP:GQ:PL	0/1:22,19:41:99:506,0,543	20	0	1	0
chr2	206445465	206445465	T	G	exonic	ADAM23	.	nonsynonymous SNV	ADAM23:NM_003812:exon2:c.T373G:p.S125A,	.	.	428	1075	19	0	0	19	0.0087598	.	.	697266	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.75	T	0.392	B	0.173	B	0.001	D	0.995	D	1.59	L	4.61	T	-0.906	T	0.006	T	0.303	2.132	13.09	4.78	1.054	5.833	12.517	0.154	0.0180538436402	0.0082	0.00179712	0.0050	0.0047	0.0026	0	0.0002	0.0076	0.0044	0.0012	0.0049805	770	154602	rs112012170	0.0061	0.0061	0.0063	0.0060	0.0142	0.0060	0.0060	0.0117	0.0108	0.0044	0.0028	0.0095	0	0.0007	0.0142	0.0070	0.0066	0.0013	0.0058	0.0058	0.0060	0.0056	0.0074	0.0055	0.0054	0.0069	0.0067	0.0059	0.0011	0.0058	0.0072	0	9.434e-05	0.0136	0.0074	0.0057	0.0008	0.296	0.14694	T	0.096	0.40267	T	0.392	0.34646	B	0.173	0.35463	B	0.000764	0.41888	D	0.000000	0.994944	0.42480	D	1.5	0.37844	L	4.61	0.01851	T	-1.42	0.34992	N	0.477	0.51851	-0.9058	0.47355	T	0.006	0.02055	T	10	0.0100236535	0.00224	T	0.018054	0.39980	T	0.154	0.40340	.	.	0.256237801699	0.25221	0.28698604468155353	0.28611	0.246457987376	0.27182	0.552425503731	0.46200	T	0.152794	0.49335	T	-0.511479	0.00492	T	-0.500942	0.22251	T	0.0228014413347231	0.01000	T	0.769523	0.39899	T	0.08802651	0.20520	0.06453053	0.12947	0.08802651	0.20519	0.06453053	0.12947	-4.263	0.27655	T	.	.	0.090	0.16054	B	.;.	.;.	3.116238	0.42050	21.5	0.98204040563044281	0.39149	0.94652	0.61868	D	AEFDBI	0.523575	0.54712	D	-0.183656896248011	0.33816	1.922784	-0.0396415167583486	0.37942	2.228468	0.999996670099584	0.74766	0.706298	0.61202	0	0.383324	0.06291	0	0.383324	0.06259	0	0.613276	0.41899	0	.	.	5.95	4.78	0.60666	5.831000	0.69032	1.926000	0.29741	-0.171000	0.11205	1.000000	0.71638	0.994000	0.32194	0.978000	0.57271	0.1252:0.0:0.0:0.8748	12.517	0.55383	823	0.40596	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1215.98	36	chr2	206445465	.	T	G	1215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.040e-01;DP=872;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.81;ReadPosRankSum=-1.587e+00;SOR=0.737	GT:AD:DP:GQ:PL	0/1:82,56:138:99:1230,0,2044	20	0	1	0
chr2	206644624	206644624	C	A	exonic	FAM237A	.	nonsynonymous SNV	FAM237A:NM_001102659:exon2:c.C388A:p.P130T,	.	.	419	1095	8	0	0	8	0.00363967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	0.000599042	0.0045	0.0018	0.0028	0	0.0004	0.0067	0.0045	0.0012	0.0034993	541	154602	rs202031652	0.0044	0.0043	0.0045	0.0042	0.0057	0.0043	0.0042	0.0050	0.0049	0.0010	0.0024	0.0074	0	0.0006	0.0057	0.0051	0.0038	0.0007	0.0035	0.0035	0.0036	0.0034	0.0052	0.0033	0.0032	0.0046	0.0044	0.0017	0	0.0052	0.0078	0	0.0002	0.0102	0.0050	0.0038	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0080114305	0.00182	T	.	.	.	.	.	.	.	.	.	0.06515831057279708	0.06454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442056	0.12263	T	0.03311266	0.03467	0.06592949	0.13434	0.03311266	0.03467	0.06592949	0.13434	-3.261	0.13239	T	.	.	0.072	0.04316	B	.	.	0.587555	0.09560	6.336	0.7509209369219324	0.10942	0.61616	0.31537	D	AEFBCI	.	.	.	.	.	.	.	.	.	1.24450205978909E-5	0.02871	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.286808	0.34293	5.82	-0.0896	0.13004	1.660000	0.37013	0.167000	0.15474	-0.182000	0.10109	0.986000	0.36153	0.000000	0.08366	0.371000	0.26133	0.1603:0.1889:0.1602:0.4905	1.286	0.01927	733	0.53988	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	866.98	34	chr2	206644624	.	C	A	866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.340e-01;DP=771;ExcessHet=0.0000;FS=0.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=-9.560e-01;SOR=0.873	GT:AD:DP:GQ:PL	0/1:45,35:80:99:881,0,1249	20	0	1	0
chr2	206699838	206699838	T	A	exonic	DYTN	.	nonsynonymous SNV	DYTN:NM_001093730:exon7:c.A608T:p.E203V,	.	.	259	1252	10	1	0	12	0.00476948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	.	.	0.879	D	2.695	M	-1.11	T	0.278	D	0.526	D	0.632	3.273	16.99	3.58	2.254	2.499	9.305	0.552	.	0.0078	0.00319489	0.0045	0.0122	0.0026	0	0.0003	0.0055	0.0045	0.0009	0.0044243	684	154602	rs112735024	0.0047	0.0047	0.0049	0.0045	0.0121	0.0046	0.0045	0.0111	0.0107	0.0121	0.0028	0.0071	0	0.0007	0.0061	0.0051	0.0048	0.0008	0.0064	0.0064	0.0066	0.0062	0.0112	0.0061	0.0060	0.0103	0.0100	0.0112	0	0.0080	0.0078	0	0.0002	0.0102	0.0050	0.0057	0.0008	0.0	0.91255	D	0.011	0.64786	D	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	0.878551	0.35703	D	3.17	0.88688	M	-1.11	0.77466	T	-6.8	0.92903	D	0.832	0.82761	0.278	0.87205	D	0.526	0.82341	D	9	0.02470392	0.00689	T	.	.	.	0.552	0.81485	.	.	0.511848488485	0.50826	0.708085109289546	0.70750	0.226483481589	0.25203	0.377892464399	0.21956	T	0.364069	0.72971	T	-0.201713	0.20559	T	-0.0514926	0.66920	D	0.0439928075966002	0.04419	T	0.763424	0.38984	T	0.8583708	0.87962	0.78635484	0.87420	0.8583708	0.87963	0.78635484	0.87421	-10.889	0.79046	D	.	.	0.461	0.62737	A	.	.	4.558976	0.71827	25.7	0.99255046660654556	0.57022	0.91798	0.54285	D	AEFDBI	0.408735	0.48029	N	0.57657401683614	0.71712	5.693109	0.491407842478898	0.67417	5.081541	0.387803493288083	0.20018	0.500041	0.20204	0	0.59043	0.45803	0	0.624306	0.44879	0	0.444512	0.06955	0	.	.	5.89	3.58	0.40133	1.994000	0.40377	6.078000	0.53320	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.081000	0.17303	0.0:0.1712:0.0:0.8288	9.305	0.37031	795	0.45444	EF-hand domain, type 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2111.98	37	chr2	206699838	.	T	A	2111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.263e+00;DP=890;ExcessHet=0.0000;FS=0.555;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.264;SOR=0.758	GT:AD:DP:GQ:PL	0/1:86,89:175:99:2126,0,2140	20	0	1	0
chr2	206755303	206755303	G	A	exonic	MDH1B	.	nonsynonymous SNV	MDH1B:NM_001330223:exon4:c.C322T:p.R108C	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.989	D	0.827	P	0.064	N	0.661	N	1.39	L	0.86	T	-0.915	T	0.176	T	0.196	2.286	13.60	-1.32	-0.308	-0.035	4.476	0.092	0.0148335117565	0.0014	0.000199681	0.0010	0.0003	0.0013	0.0003	0	0.0014	0.0022	6.058e-05	0.0009056	140	154602	rs145046021	0.0011	0.0011	0.0012	0.0011	0.0029	0.0011	0.0011	0.0019	0.0015	0.0003	0.0017	0.0061	0.0002	5.616e-05	0.0029	0.0011	0.0015	5.797e-05	0.0011	0.0010	0.0010	0.0011	0.0037	0.0009	0.0009	0.0029	0.0026	0.0003	0	0.0037	0.0069	0.0004	0	0.0068	0.0009	0.0024	0	0.205	0.20683	T	0.184	0.48336	T	0.981	0.62824	D	0.676	0.59428	P	0.064421	0.02178	N	1.757560	0.999984	0.30448	N	2.14	0.59869	M	0.86	0.46777	T	-1.61	0.46503	N	0.13	0.13055	-0.9153	0.46181	T	0.176	0.51974	T	10	0.010273159	0.00229	T	0.014834	0.35199	T	0.092	0.26621	.	.	0.210429274316	0.20668	0.26658220524002735	0.26571	0.141817654033	0.15982	0.205161303282	0.00622	T	0.073	0.34519	T	-0.541218	0.00330	T	-0.563429	0.16056	T	0.00856084793407556	0.00104	T	0.407159	0.10452	T	0.0712441	0.15757	0.043342166	0.05370	0.0712441	0.15756	0.043342166	0.05369	-5.533	0.42176	T	.	.	0.071	0.07177	B	.;.;.	.;.;.	1.652345	0.21080	15.04	0.97665035259008759	0.35218	0.14606	0.18491	N	AEFBI	0.306431	0.41358	N	-0.968383565573294	0.09284	0.4387876	-1.14354706171626	0.06884	0.3329203	0.370882644056615	0.19869	0.638212	0.43195	0	0.610034	0.51514	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.68	-1.32	0.08721	-0.002000	0.12858	0.560000	0.19502	-1.791000	0.00638	0.006000	0.17386	0.032000	0.21310	0.007000	0.07825	0.2591:0.1696:0.4851:0.0862	4.476	0.11160	829	0.39537	.;.;.	.	.	.	.	.	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	1029.98	37	chr2	206755303	.	G	A	1029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=779;ExcessHet=0.0000;FS=0.840;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=-1.450e-01;SOR=0.807	GT:AD:DP:GQ:PL	0/1:41,37:78:99:1044,0,1117	20	0	1	0
chr2	219497848	219497848	G	C	exonic	SPEGNB	.	nonsynonymous SNV	SPEGNB:NM_001286811:exon3:c.G565C:p.E189Q,	.	.	408	1112	2	0	0	2	0.000898473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.861	T	0.211	T	.	0.677	7.620	3.01	0.612	0.400	8.815	0.057	.	.	.	0.0001	0	0	0	0	0.0004	0	0	1.29e-05	2	154602	rs779771208	2.344e-05	1.984e-05	1.874e-05	2.833e-05	0.0020	1.605e-05	1.376e-05	0.0011	0.0008	0	0	0.0004	0	0	0.0020	2.172e-06	7.208e-05	7.875e-05	6.57e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	.	.	.	0.088	0.40586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.07130873	0.10493	T	.	.	.	.	.	.	.	0.168254554758	0.16434	.	.	.	.	.	.	.	.	.	.	-0.216483	0.18476	T	-0.42096	0.30966	T	0.180343508720398	0.19256	T	0.741226	0.36032	T	.	.	.	.	.	.	.	.	-4.346	0.28816	T	.	.	0.118	0.24226	B	.	.	2.451643	0.31569	18.78	0.8893676100533433	0.18376	0.50254	0.28620	D	AEFBCI	0.187427	0.31472	N	-0.183444132116183	0.33823	1.923389	-0.215031736244896	0.30995	1.750139	0.999998556023221	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.83	3.01	0.33872	0.424000	0.21049	1.698000	0.28113	0.676000	0.76740	0.314000	0.25450	0.097000	0.22620	0.996000	0.76049	0.1783:0.0:0.8217:0.0	8.815	0.34148	103	0.95740	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	896.98	41	chr2	219497848	.	G	C	896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.610e-01;DP=847;ExcessHet=0.0000;FS=0.919;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-2.760e-01;SOR=0.938	GT:AD:DP:GQ:PL	0/1:36,36:72:99:911,0,929	20	0	1	0
chr2	219640934	219640934	G	A	exonic	SLC4A3	.	nonsynonymous SNV	SLC4A3:NM_001326559:exon22:c.G3674A:p.R1225Q	.	.	415	1086	20	1	0	22	0.0100273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.992	D	0.902	P	0.000	D	1.000	D	3.245	M	-0.0	T	0.172	D	0.501	D	0.548	5.548	35	4.98	2.314	4.932	18.284	0.291	0.0949529258596	0.0005	0.000798722	0.0008	9.726e-05	0.0005	0.0001	0	0.0005	0.0022	0.0031	0.0007115	110	154602	rs150952379	0.0005	0.0005	0.0004	0.0006	0.0042	0.0004	0.0004	0.0029	0.0025	0.0002	0.0004	3.827e-05	0	0	0.0042	0.0003	0.0008	0.0029	0.0005	0.0005	0.0006	0.0005	0.0023	0.0004	0.0004	0.0013	0.0010	0.0001	0	0.0010	0	0.0002	0	0.0068	0.0006	0.0024	0.0023	0.031	0.47745	D	0.031	0.53788	D	0.986	0.64738	D	0.801	0.64047	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.305	0.65957	M	-0.0	0.62608	T	-2.22	0.49846	N	0.635	0.64818	0.172	0.85428	D	0.501	0.81144	D	10	0.049013972	0.04432	T	0.094953	0.76342	D	0.291	0.61040	.	.	0.842441911355	0.84093	0.7639371613375563	0.76341	.	.	0.50764554739	0.39892	T	0.626215	0.88354	D	-0.287716	0.09868	T	-0.189111	0.55673	T	0.0941217733934452	0.11697	T	0.848015	0.52922	T	0.41479942	0.61744	0.288303	0.54846	0.41479942	0.61744	0.288303	0.54845	-6.004	0.46313	T	.	.	0.105	0.21163	B	.;.;.;.	.;.;.;.	5.292224	0.88853	29.8	0.99956445359254309	0.99981	0.99121	0.91534	D	AEFBI	0.732717	0.67938	D	0.761000602636825	0.83620	8.065238	0.698402360406463	0.82256	7.722555	0.999999999998909	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	4.98	4.98	0.65679	5.902000	0.69609	7.571000	0.60712	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.284	0.90047	167	0.93508	.;.;.;.	.	.	.	.	.	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	595.98	42	chr2	219640934	.	G	A	595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.722;DP=866;ExcessHet=0.0000;FS=0.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.64;ReadPosRankSum=-5.080e-01;SOR=0.822	GT:AD:DP:GQ:PL	0/1:43,26:69:99:610,0,1088	20	0	1	0
chr2	224770306	224770306	G	A	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon55:c.C6331T:p.R2111C	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	D	1.000	D	2.34	M	2.21	T	-0.932	T	0.132	T	0.783	3.997	20.5	5.27	2.472	6.510	18.888	0.342	0.043418909986	.	.	0.0001	0	0	0	0.0011	4.497e-05	0.0016	0	5.17e-05	8	154602	rs776912091	2.405e-05	2.668e-05	1.776e-05	3.042e-05	0.0002	1.746e-05	1.546e-05	4.921e-05	3.174e-05	0	0	0	0.0001	0.0003	0.0002	9.018e-06	3.324e-05	0	7.884e-05	7.88e-05	6.422e-05	9.415e-05	0.0004	4.496e-05	3.512e-05	6.825e-05	2.856e-05	0	0	0	0	0.0004	0.0009	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	0.9	0.49598	P	0.667	0.53020	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.15	0.88382	M	2.21	0.18414	T	-5.53	0.86073	D	0.681	0.68777	-0.9316	0.43903	T	0.132	0.44425	T	10	0.3677395	0.53235	T	0.043419	0.60972	D	0.342	0.66392	0.522	0.62518	0.439445477881	0.43565	0.43932193023742666	0.43849	0.78146300038	0.65317	0.807518482208	0.83111	D	0.197938	0.55477	T	-0.0904388	0.38002	T	-0.0659641	0.65912	T	0.792674481868744	0.45865	D	0.975436	0.91320	D	0.7098886	0.78601	0.6377279	0.78844	0.7098886	0.78603	0.6377279	0.78845	-8.291	0.63035	D	.	.	0.256	0.49960	B	.;.;.	.;.;.	5.163028	0.86510	28.9	0.99911687026476492	0.98095	0.93537	0.58487	D	AEFBCI	0.838139	0.75569	D	0.7364348091752	0.82018	7.660436	0.70887704601683	0.83053	7.921815	0.999077326370555	0.38370	0.722319	0.85440	0	0.698795	0.70079	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	6.629000	0.74129	9.916000	0.82466	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	18.888	0.92359	765	0.49814	.;Dedicator of cytokinesis, C-terminal|DHR-2 domain;Dedicator of cytokinesis, C-terminal|DHR-2 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2534.98	33	chr2	224770306	.	G	A	2534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=878;ExcessHet=0.0000;FS=2.526;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=0.327;SOR=0.914	GT:AD:DP:GQ:PL	0/1:90,98:188:99:2549,0,2002	20	0	1	0
chr2	227611566	227611566	G	A	exonic	C2orf83	.	nonsynonymous SNV	C2orf83:NM_020161:exon3:c.C281T:p.A94V,	.	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.208	B	0.017	B	.	.	1.000	N	0.345	N	0.16	T	-1.061	T	0.075	T	0.028	0.984	9.016	-1.05	-0.296	0.079	2.172	0.024	0.00328156914584	.	.	2.472e-05	0	0	0	0	2.998e-05	0.0011	0	1.94e-05	3	154602	rs774145671	1.026e-05	1.163e-05	1.089e-05	9.626e-06	0.0002	6.16e-06	4.89e-06	4.55e-06	3.32e-06	0	2.236e-05	0	2.519e-05	0	0.0002	8.993e-06	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	.	.	.	.	.	.	0.208	0.29916	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	.	.	-1.0614	0.11410	T	0.075	0.30086	T	9	0.056364894	0.06307	T	0.003282	0.07268	T	.	.	0.361	0.36548	.	.	0.035604307282125776	0.03507	.	.	0.260540276766	0.04955	T	0.001287	0.00766	T	-0.333093	0.05880	T	-0.633376	0.10161	T	0.0318742976935413	0.02285	T	0.278972	0.04839	T	0.022485292	0.00914	0.04299178	0.05248	0.022485292	0.00914	0.04299178	0.05247	-4.094	0.25201	T	.	.	0.150	0.33179	B	.	.	0.348841	0.07221	3.815	0.85543577710510643	0.15958	0.01678	0.05360	N	AEFDBI	0.025511	0.01759	N	-1.4640517336781	0.02109	0.0927697	-1.54528821025264	0.02009	0.09177215	1.00105101558336E-4	0.04910	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.05	-1.05	0.09523	0.084000	0.14738	-2.513000	0.03663	-3.137000	0.00119	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3226:0.0:0.4292:0.2482	2.172	0.03617	702	0.57624	.	.	.	.	.	.	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	1987.98	36	chr2	227611566	.	G	A	1987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.600e-01;DP=981;ExcessHet=0.0000;FS=0.569;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-8.400e-02;SOR=0.618	GT:AD:DP:GQ:PL	0/1:97,80:177:99:2002,0,2448	20	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	0|1:89,70,0:159:99:0|1:232847516_CACA_C:2514,0,3293,2782,3503,6285:232847516	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	0|1:89,70,0:159:99:0|1:232847516_CACA_C:2514,0,3293,2782,3503,6285:232847516	6	4	10	0
chr2	233204361	233204361	G	A	exonic	INPP5D	.	nonsynonymous SNV	INPP5D:NM_001017915:exon26:c.G3211A:p.G1071S	.	.	424	1080	15	3	0	21	0.00962861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	0.001	B	0.005	B	0.226	N	1.000	N	.	.	-3.85	D	-0.079	T	0.555	D	0.28	-1.568	0.015	-3.65	-0.664	-0.077	4.583	0.363	.	0.0009	0.00399361	0.0044	0.0004	0.0008	0.0001	0.0245	0.0021	0.0096	0.0119	0.0034993	541	154602	rs201835044	0.0023	0.0023	0.0020	0.0027	0.0121	0.0023	0.0022	0.0115	0.0112	0.0001	0.0010	0.0025	0.0001	0.0242	0.0056	0.0007	0.0024	0.0121	0.0032	0.0032	0.0018	0.0046	0.0141	0.0029	0.0029	0.0114	0.0104	0.0002	0	0.0005	0.0023	0.0006	0.0267	0.0068	0.0015	0.0019	0.0141	0.81	0.03036	T	0.649	0.07196	T	0.001	0.07471	B	0.005	0.11217	B	0.226060	0.03487	N	1.502010	1	0.08975	N	.	.	.	-3.91	0.96047	D	-0.16	0.09460	N	0.033	0.00882	-0.0794	0.80567	T	0.555	0.83724	D	9	0.005005479	0.00108	T	.	.	.	0.363	0.68319	.	.	0.64318162235	0.64023	0.21220313058028137	0.21136	0.568978505272	0.53093	0.376267433167	0.21727	T	0.189903	0.54427	T	-0.29231	0.09406	T	-0.182271	0.56313	T	0.00114685909032254	0.00011	T	.	.	.	0.022848252	0.00977	0.034002054	0.02391	0.022848252	0.00977	0.034002054	0.02390	-3.568	0.17395	T	.	.	0.068	0.03773	B	.;.;.	.;.;.	0.266732	0.06449	2.920	0.9359925467849376	0.23455	0.05062	0.10853	N	AEFDBCI	0.022055	0.01055	N	-1.31630893350496	0.03488	0.1558982	-1.37956244714507	0.03471	0.1619534	0.999948501950974	0.47345	0.631515	0.41029	0	0.697927	0.68747	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	3.54	-3.65	0.04212	-0.151000	0.10160	-0.481000	0.08919	-0.102000	0.15922	0.474000	0.26753	0.000000	0.08366	0.638000	0.32368	0.429:0.0:0.3988:0.1722	4.583	0.11660	825	0.40060	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3471.11	33	chr2	233204361	.	G	A	3471.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.76;DP=899;ExcessHet=0.1072;FS=0.971;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=1.91;SOR=0.644	GT:AD:DP:GQ:PL	0/1:56,81:137:99:2098,0,1334	19	0	2	0
chr2	236338262	236338262	A	G	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270584:exon16:c.T1954C:p.C652R	.	.	436	1078	8	0	0	8	0.00369686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.929	P	0.838	P	0.000	D	1.000	D	0.625	N	-2.32	D	0.182	D	0.530	D	0.857	3.019	16.07	5.47	2.078	8.771	15.251	0.754	0.0768967596714	0.0054	0.00279553	0.0040	0.0010	0.0030	0	0.0008	0.0058	0.0022	0.0026	0.0041461	641	154602	rs115960780	0.0067	0.0067	0.0069	0.0065	0.0080	0.0066	0.0065	0.0079	0.0078	0.0010	0.0020	0.0005	0	0.0022	0.0024	0.0080	0.0054	0.0028	0.0040	0.0040	0.0046	0.0034	0.0071	0.0037	0.0036	0.0066	0.0064	0.0012	0	0.0032	0	0	0.0008	0	0.0071	0.0033	0.0025	0.01	0.56456	D	0.002	0.79402	D	0.339	0.33423	B	0.223	0.37929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-2.32	0.87830	D	-7.9	0.96191	D	0.868	0.86511	0.182	0.85607	D	0.530	0.82559	D	10	0.032767653	0.01436	T	0.076897	0.72642	D	0.754	0.91583	.	.	0.708580960251	0.70603	0.8369696392481973	0.83656	0.219439555169	0.24485	0.719782352448	0.70015	T	0.064586	0.32472	T	0.0267199	0.55284	T	0.270732	0.86611	D	0.0831798781466144	0.10389	T	0.844016	0.52137	T	0.90649337	0.91970	0.84031224	0.90859	0.90649337	0.91971	0.84031224	0.90859	-10.751	0.78274	D	.	.	0.492	0.64252	A	.;.;.	.;.;.	3.495620	0.48878	22.7	0.98463799330663193	0.41768	0.98500	0.83437	D	AEFBI	0.934409	0.92774	D	0.187891728519636	0.50618	3.25003	0.252950952158988	0.52816	3.454065	0.999999999474195	0.74766	0.638212	0.43195	0	0.610034	0.51514	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.47	5.47	0.80345	8.850000	0.91815	10.764000	0.83705	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	1.0:0.0:0.0:0.0	15.251	0.73244	994	0.00715	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	615.98	34	chr2	236338262	.	A	G	615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.720e-01;DP=780;ExcessHet=0.0000;FS=3.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.00;ReadPosRankSum=-2.290e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/1:46,31:77:99:630,0,1148	20	0	1	0
chr2	238131092	238131092	G	A	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_001308370:exon4:c.G1274A:p.R425Q	.	.	430	1090	2	0	0	2	0.00091659	.	.	2334550	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.976	D	0.444	B	0.076	N	0.903	N	1.61	L	1.0	T	-0.832	T	0.182	T	0.522	3.026	16.09	2.78	2.123	0.206	8.632	0.140	0.394635057999	.	.	9.126e-05	0	0	0	.	0	0	0.0001	0.0001358	21	154602	rs776634470	4.893e-05	5.199e-05	5.111e-05	4.669e-05	0.0012	3.921e-05	3.588e-05	0.0009	0.0008	0	0.0012	0	0	0	0	1.67e-05	1.733e-05	0.0001	0.0001	0.0001	0.0001	0.0001	0.0011	8.667e-05	7.259e-05	0.0007	0.0006	0	0	0.0011	0	0	0	0	4.41e-05	0	0	0.082	0.33254	T	0.025	0.57104	D	0.959	0.58310	D	0.259	0.45865	B	0.076030	0.21187	N	0.374482	0.902749	0.27668	N	1.445	0.36358	L	-0.08	0.63911	T	-1.2	0.33598	N	0.192	0.22486	-0.8316	0.53198	T	0.182	0.53026	T	10	0.10717672	0.19895	T	0.394635	0.93265	D	0.140	0.37593	.	.	0.17948927462	0.17512	0.26299384547681975	0.26212	0.143774741712	0.16234	0.732445120811	0.71864	T	0.007645	0.07043	T	-0.339305	0.05436	T	-0.33687	0.40700	T	0.0904519241937972	0.11272	T	0.712229	0.32360	T	0.047864605	0.08251	0.0676554	0.14024	0.047864605	0.08251	0.0676554	0.14024	-4.524	0.32008	T	.	.	0.09	0.16713	B	.;.;.	.;.;.	1.712836	0.21810	15.36	0.99865430453994308	0.94366	0.05763	0.11694	N	AEFDBI	0.055229	0.10109	N	-0.00742268477400036	0.41518	2.48486	-0.0484004872628522	0.37559	2.200808	0.98598064959254	0.30984	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.63	2.78	0.31702	-0.086000	0.11198	1.578000	0.27457	-0.174000	0.10959	0.000000	0.06391	0.925000	0.28409	0.426000	0.27362	0.1696:0.0:0.8304:0.0	8.632	0.33085	969	0.06854	.;.;.	.	.	.	.	.	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	603.98	36	chr2	238131092	.	G	A	603.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.264;DP=947;ExcessHet=0.0000;FS=2.316;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-5.870e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/1:26,27:53:99:618,0,560	20	0	1	0
chr2	240524216	240524216	C	T	exonic	ANKMY1	.	nonsynonymous SNV	ANKMY1:NM_001354026:exon5:c.G544A:p.G182S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.401	B	0.045	B	0.026	N	1.000	N	0.345	N	4.45	T	-1.053	T	0.060	T	0.199	-0.607	1.293	-4.95	-2.050	-4.325	0.317	0.056	0.010173145402	.	0.000199681	0.0002	0	0	0.0030	0	4.522e-05	0	0	0.0002135	33	154602	rs202110899	9.1e-05	9.098e-05	0.0001	7.702e-05	0.0022	7.825e-05	7.306e-05	0.0018	0.0017	5.974e-05	0	0	0.0022	0	0.0002	2.878e-05	0.0002	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0037	8.662e-05	7.254e-05	0.0024	0.0020	0	0	0	0	0.0037	0	0	1.47e-05	0	0	0.432	0.12961	T	0.502	0.13290	T	0.018	0.34877	B	0.004	0.24526	B	0.025532	0.01632	N	2.633480	1	0.08975	N	0.17	0.09006	N	2.97	0.54540	T	-0.52	0.17417	N	0.055	0.05799	-1.0528	0.13628	T	0.060	0.24945	T	10	0.0062376857	0.00141	T	0.010173	0.26390	T	0.056	0.15993	.	.	0.532311620844	0.52880	0.22496203532363984	0.22411	.	.	0.208711594343	0.00758	T	0.007638	0.07033	T	-0.56803	0.00227	T	-0.590818	0.13595	T	0.0148756564283025	0.00315	T	0.70513	0.31558	T	0.035975672	0.04338	0.031042742	0.01638	0.035975672	0.04337	0.031042742	0.01638	-2.54	0.07489	T	.	.	0.085	0.10835	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.574421	0.00253	0.004	0.70526005818141391	0.09324	0.00450	0.02181	N	AEFBI	0.051112	0.09000	N	-1.78910263008833	0.00572	0.02465107	-1.90779964755538	0.00472	0.02092308	0.939394039909282	0.27385	0.651	0.46895	0	0.694456	0.67091	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	2.48	-4.95	0.02821	-4.303000	0.00293	-8.118000	0.01025	-0.982000	0.01892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2863:0.2046:0.2818:0.2274	0.317	0.00276	994	0.00715	.;.;.;.;.;.;.	.	.	.	.	.	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	2052.98	41	chr2	240524216	.	C	T	2052.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.47;DP=1079;ExcessHet=0.0000;FS=6.006;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=1.04;SOR=0.384	GT:AD:DP:GQ:PL	0/1:86,70:156:99:2067,0,2235	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	0/1:49,57,0:108:99:.:.:1536,0,1744,1788,1951,4062	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	0/2:33,8,16:62:99:281,159,1218,0,623,636	0	0	1	0
chr2	241678566	241678566	C	T	exonic	DTYMK	.	nonsynonymous SNV	DTYMK:NM_001320903:exon3:c.G251A:p.R84Q,	.	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.631	T	0.160	T	.	-0.887	0.465	-10.1	-2.819	-3.171	11.796	0.042	.	.	0.000798722	0.0007	9.623e-05	0.0002	0.0005	0	0.0001	0	0.0038	0.0005692	88	154602	rs563182182	0.0003	0.0003	0.0002	0.0003	0.0032	0.0002	0.0002	0.0029	0.0027	0.0001	8.944e-05	0	0.0005	0	0.0017	3.147e-05	0.0006	0.0032	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0001	0.0016	0.0013	4.811e-05	0	0.0003	0	0.0017	0	0	8.819e-05	0.0005	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1779.98	37	chr2	241678566	.	C	T	1779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.670e-01;DP=1000;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-4.210e-01;SOR=0.669	GT:AD:DP:GQ:PL	0/1:79,78:157:99:1794,0,1830	20	0	1	0
chr3	9751100	9751100	A	C	exonic	OGG1	.	nonsynonymous SNV	OGG1:NM_001354648:exon2:c.A293C:p.K98T	Renal cell carcinoma, clear cell, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.152	B	0.322	B	0.008	N	1.000	N	0.97	L	0.54	T	-1.027	T	0.089	T	0.554	1.390	10.58	2.62	0.855	0.865	8.910	0.024	0.0358683140223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.46910	T	0.225	0.45744	T	0.001	0.15914	B	0.031	0.24975	B	0.007902	0.31126	N	0.369264	1	0.08975	N	1.735	0.44892	L	0.54	0.54911	T	-0.87	0.27259	N	0.189	0.27435	-1.0272	0.21363	T	0.089	0.34298	T	10	0.26239932	0.43708	T	0.035868	0.56625	D	0.141	0.37795	0.584	0.71118	0.733702516443	0.73132	0.5200408349730734	0.51927	0.196384427349	0.21999	0.231403261423	0.02074	T	0.059028	0.31006	T	-0.045383	0.45145	T	-0.302966	0.44411	T	0.13789269906808	0.16092	T	0.878612	0.66396	D	0.2943915	0.52397	0.11369823	0.27442	0.2943915	0.52397	0.11369823	0.27441	-2.416	0.11539	T	0.1089558507953163	0.09042	0.088	0.21125	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.760148	0.22389	15.60	0.98497921727353921	0.42180	0.25345	0.22670	N	ALL	0.238552	0.36065	N	-0.429933790709702	0.24426	1.318769	-0.491275879933149	0.22393	1.216047	0.999995327151963	0.74766	0.660085	0.49399	0	0.52208	0.09955	0	0.672317	0.60874	0	0.651492	0.60203	0	.	.	5.41	2.62	0.30337	1.388000	0.34048	0.733000	0.21101	0.756000	0.94297	0.021000	0.19753	0.000000	0.08366	0.189000	0.21571	0.7953:0.1283:0.0764:0.0	8.910	0.34705	707	0.57054	8-oxoguanine DNA glycosylase, N-terminal;8-oxoguanine DNA glycosylase, N-terminal;8-oxoguanine DNA glycosylase, N-terminal;8-oxoguanine DNA glycosylase, N-terminal;.;8-oxoguanine DNA glycosylase, N-terminal;8-oxoguanine DNA glycosylase, N-terminal;8-oxoguanine DNA glycosylase, N-terminal	.	.	.	.	.	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	1207.98	33	chr3	9751100	.	A	C	1207.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.608e+00;DP=800;ExcessHet=0.0000;FS=0.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=0.667;SOR=0.813	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1222,0,1478	20	0	1	0
chr3	10401027	10401027	A	G	exonic	ATP2B2	.	nonsynonymous SNV	ATP2B2:NM_001001331:exon5:c.T707C:p.I236T	.	.	399	1120	2	1	0	4	0.00178253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.997	D	0.993	D	0.000	D	1.000	D	1.75	L	-2.88	D	0.810	D	0.831	D	0.989	4.455	23.8	5.6	2.124	9.339	15.791	0.857	0.219249687713	.	.	3.297e-05	0	8.643e-05	0.0001	0	2.998e-05	0	0	3.23e-05	5	154602	rs535964962	2.189e-05	2.189e-05	2.722e-05	1.65e-05	4.472e-05	1.584e-05	1.356e-05	1.663e-05	1.425e-05	2.987e-05	4.472e-05	0	2.519e-05	0	0	2.428e-05	0	1.159e-05	1.969e-05	1.969e-05	1.285e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.046	0.40573	D	0.095	0.39492	T	0.796	0.70673	P	0.364	0.81110	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.95	0.23787	L	-2.88	0.91533	D	-3.74	0.71519	D	0.901	0.95725	0.810	0.94541	D	0.831	0.94341	D	10	0.9026017	0.89622	D	0.21925	0.87698	D	0.857	0.95618	.	.	0.782857077414	0.78085	0.9147327016045707	0.91448	2.15156627293	0.95323	0.908712506294	0.97347	D	0.839056	0.96230	D	0.28872	0.82050	D	0.352796	0.90426	D	0.818275630474091	0.47644	D	0.954805	0.82790	D	0.34522703	0.56693	0.50098604	0.71151	0.34522703	0.56693	0.50098604	0.71152	-12.055	0.89005	D	0.3023635643050091	0.39980	0.674	0.76483	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.619957	0.73354	26.0	0.99798825600364605	0.88372	0.98892	0.88252	D	AEFGBI	0.929737	0.91596	D	0.519212633850167	0.68226	5.188166	0.581745787920944	0.73632	6.002304	0.999999997890389	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.6	5.6	0.84997	9.325000	0.96006	11.168000	0.87876	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	1.0:0.0:0.0:0.0	15.791	0.78139	835	0.38313	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1628.98	34	chr3	10401027	.	A	G	1628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.612;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-2.280e-01;SOR=0.715	GT:AD:DP:GQ:PL	0/1:60,63:123:99:1643,0,1487	20	0	1	0
chr3	14514356	14514356	C	T	exonic	GRIP2	.	nonsynonymous SNV	GRIP2:NM_001080423:exon12:c.G1429A:p.A477T,	.	.	422	1042	55	3	0	61	0.0284382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0069	0.00678914	0.0209	0.0032	0.0079	0	0.0361	0.0183	0.0125	0.0372	0.0076972	1190	154602	rs61731933	0.0084	0.0084	0.0075	0.0093	0.0336	0.0083	0.0082	0.0325	0.0321	0.0019	0.0026	0.0082	7.976e-05	0.0106	0.0125	0.0072	0.0070	0.0336	0.0070	0.0070	0.0064	0.0077	0.0310	0.0067	0.0065	0.0268	0.0252	0.0025	0	0.0021	0.0071	0	0.0137	0.0103	0.0088	0.0063	0.0310	.	.	.	0.015	0.63109	D	0.973	0.57599	D	0.866	0.61580	P	.	.	.	.	.	.	.	1.7	0.43825	L	.	.	.	.	.	.	0.451	0.48872	.	.	.	.	.	.	.	0.008893639	0.00201	T	.	.	.	.	.	.	.	.	.	0.4809170231000565	0.48011	.	.	0.710757851601	0.68703	T	0.046215	0.27356	T	-0.15527	0.27491	T	0.0278743	0.72140	D	.	.	.	0.920008	0.71084	D	0.14574614	0.33396	0.41954938	0.65945	0.14574614	0.33396	0.41954938	0.65945	-9.597	0.71461	D	.	.	0.149	0.32851	B	.;.;.	.;.;.	3.997254	0.58871	24.0	0.9309622440940325	0.22722	0.95255	0.64015	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999994724982313	0.74766	0.162113	0.03585	0	0.063388	0.01293	0	0.175069	0.04249	0	0.058706	0.01089	0	0.76698	0.45436	4.73	3.86	0.43689	5.798000	0.68751	3.899000	0.40339	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.921:0.0:0.079	13.007	0.58115	894	0.26265	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	GRIP2|GRIP2|GRIP2|GRIP2|GRIP2	Artery_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen	.	.	.	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	1131.98	40	chr3	14514356	.	C	T	1131.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.251e+00;DP=877;ExcessHet=0.0000;FS=0.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.15;ReadPosRankSum=0.365;SOR=0.588	GT:AD:DP:GQ:PL	0/1:34,46:80:99:1146,0,835	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|1:167,68:235:99:0|1:15003967_C_G:544,0,4501:15003967	8	0	12	1
chr3	17011549	17011549	G	A	exonic	PLCL2	.	nonsynonymous SNV	PLCL2:NM_001144382:exon2:c.G2203A:p.E735K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.695	P	0.41	B	0.000	D	1.000	D	.	.	0.66	T	-0.942	T	0.152	T	0.761	4.228	22.0	4.95	2.445	9.813	18.551	0.303	0.0504422308877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.162	0.31225	T	0.695	0.41722	P	0.41	0.44785	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.66	0.52416	T	-2.5	0.54382	D	0.592	0.61172	-0.9415	0.42378	T	0.152	0.48101	T	9	0.44943926	0.58605	T	0.050442	0.64245	D	0.303	0.62400	0.522	0.62518	0.377143385212	0.37329	0.8680794389283953	0.86772	.	.	0.852193415165	0.89945	D	0.281621	0.65434	T	0.142542	0.68566	D	-0.0330245	0.68167	D	0.989856243133545	0.80073	D	.	.	.	0.5540618	0.70181	0.4064115	0.65015	0.5540618	0.70182	0.4064115	0.65015	-9.464	0.70635	D	.	.	0.954	0.87383	P	.;.	.;.	4.636394	0.73764	26.0	0.99873155788579326	0.95076	0.98713	0.85906	D	AEFBI	.	.	.	0.473352303931839	0.65540	4.835297	0.549068248715126	0.71331	5.638813	0.999999999998851	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.95	4.95	0.64894	10.003000	0.99689	11.829000	0.97466	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	18.551	0.91016	644	0.63734	.;.	.	.	.	.	.	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	2471.98	95	chr3	17011549	.	G	A	2471.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=1761;ExcessHet=0.0000;FS=3.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=1.80;SOR=1.022	GT:AD:DP:GQ:PL	0/1:72,90:162:99:2486,0,1797	20	0	1	0
chr3	25783371	25783371	C	T	exonic	NGLY1	.	nonsynonymous SNV	NGLY1:NM_001145293:exon1:c.G20A:p.G7D	Congenital disorder of deglycosylation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.322	B	0.094	B	0.000	D	0.999	D	1.1	L	1.38	T	-1.091	T	0.060	T	0.319	2.791	15.29	1.69	0.286	1.489	8.162	0.039	0.306447907773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.435e-06	1.368e-06	1.418e-06	1.452e-06	1.853e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.853e-06	0	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.322	0.33059	B	0.094	0.30180	B	0.000107	0.50451	D	0.078821	0.999242	0.46434	D	1.7	0.43825	L	1.33	0.35031	T	-0.44	0.18042	N	0.293	0.39457	-1.0910	0.05367	T	0.060	0.25127	T	10	0.14558926	0.27614	T	0.306448	0.91049	D	0.039	0.10176	0.103	0.01643	0.375861065471	0.37200	0.49272893511647664	0.49193	0.0424407759524	0.04572	0.878568768501	0.93767	D	0.124602	0.44975	T	-0.119476	0.33210	T	-0.409396	0.32295	T	0.86964076757431	0.51956	D	0.571043	0.27951	T	0.26190218	0.49249	0.36775404	0.62078	0.26190218	0.49249	0.36775404	0.62078	-4.937	0.38159	T	.	.	0.321	0.54609	B	.;.;.;.	.;.;.;.	3.010393	0.40256	21.1	0.99045190791513094	0.51118	0.47890	0.28084	N	AEFDBHCIJ	0.059561	0.11258	N	-0.501684269996728	0.22026	1.173202	-0.486220418856032	0.22532	1.224312	0.999999999986357	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.47417	0.07244	0	0.241949	0.04745	2	.	.	3.54	1.69	0.23290	1.112000	0.30786	2.150000	0.30904	0.502000	0.22824	0.933000	0.32380	0.994000	0.32194	0.811000	0.38219	0.0:0.8041:0.0:0.1959	8.162	0.30365	587	0.69154	.;.;.;.	.	.	.	.	.	Uncertain significance	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	477.98	34	chr3	25783371	.	C	T	477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.218e+00;DP=642;ExcessHet=0.0000;FS=1.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=0.289;SOR=0.511	GT:AD:DP:GQ:PL	0/1:15,24:39:99:492,0,299	20	0	1	0
chr3	38306189	38306189	C	T	exonic	SLC22A14	.	nonsynonymous SNV	SLC22A14:NM_004803:exon1:c.C163T:p.L55F	.	.	423	1076	22	1	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.823	P	0.434	B	0.002	N	1.000	N	1.335	L	0.99	T	-1.018	T	0.058	T	0.098	2.219	13.38	-2.51	-0.342	0.063	6.796	0.051	.	0.0078	0.00599042	0.0055	0.0078	0.0019	0	0.0012	0.0061	0.0055	0.0087	0.0056856	879	154602	rs112787944	0.0068	0.0068	0.0067	0.0068	0.0123	0.0067	0.0066	0.0100	0.0092	0.0083	0.0021	0.0049	2.519e-05	0.0011	0.0123	0.0073	0.0052	0.0097	0.0066	0.0066	0.0065	0.0067	0.0106	0.0062	0.0061	0.0085	0.0082	0.0093	0.0515	0.0039	0.0046	0	0.0008	0.0306	0.0062	0.0024	0.0106	0.005	0.63226	D	0.022	0.57587	D	0.823	0.45803	P	0.434	0.45506	B	0.002119	0.37227	N	0.285900	1	0.08975	N	1.935	0.51832	L	0.99	0.41750	T	-2.13	0.48354	N	0.046	0.06720	-1.0181	0.24334	T	0.058	0.24465	T	10	0.007861435	0.00179	T	.	.	.	0.051	0.14325	.	.	0.0401082797425	0.02173	0.5053995675289253	0.50461	0.295255755646	0.31929	0.277488410473	0.07145	T	0.008921	0.08152	T	-0.625384	0.00102	T	-0.661702	0.08151	T	0.0227254980599298	0.00991	T	0.635136	0.24942	T	0.08249428	0.19006	0.087984994	0.20486	0.08249428	0.19006	0.087984994	0.20485	-6.147	0.47493	T	.	.	0.145	0.32992	B	.;.	.;.	0.602540	0.09711	6.479	0.95674332711671883	0.27524	0.07980	0.13962	N	AEFDBI	0.087905	0.17823	N	-0.91505719070562	0.10490	0.5014964	-1.07753429307434	0.08143	0.399121	0.00131760683782161	0.08437	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.62	-2.51	0.05996	-0.250000	0.08849	0.241000	0.16308	-0.136000	0.12710	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.4566:0.1371:0.4062:0.0	6.796	0.22911	527	0.73864	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4977.11	38	chr3	38306189	.	C	T	4977.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.94;DP=1175;ExcessHet=0.1072;FS=0.778;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=1.09;SOR=0.635	GT:AD:DP:GQ:PL	0/1:89,92:181:99:2574,0,2510	19	0	2	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	3/4:0,0,0,33,31,0,0:64:99:3078,2894,2862,2894,2862,2862,1314,1315,1315,1185,1385,1386,1386,0,1262,2894,2862,2862,1315,1386,2862,2894,2862,2862,1315,1386,2862,2862	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	3/4:0,0,0,33,31,0,0:64:99:3078,2894,2862,2894,2862,2862,1314,1315,1315,1185,1385,1386,1386,0,1262,2894,2862,2862,1315,1386,2862,2894,2862,2862,1315,1386,2862,2862	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	3/4:0,0,0,33,31,0,0:64:99:3078,2894,2862,2894,2862,2862,1314,1315,1315,1185,1385,1386,1386,0,1262,2894,2862,2862,1315,1386,2862,2894,2862,2862,1315,1386,2862,2862	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	3/4:0,0,0,33,31,0,0:64:99:3078,2894,2862,2894,2862,2862,1314,1315,1315,1185,1385,1386,1386,0,1262,2894,2862,2862,1315,1386,2862,2894,2862,2862,1315,1386,2862,2862	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	3/4:0,0,0,33,31,0,0:64:99:3078,2894,2862,2894,2862,2862,1314,1315,1315,1185,1385,1386,1386,0,1262,2894,2862,2862,1315,1386,2862,2894,2862,2862,1315,1386,2862,2862	1	2	2	0
chr3	40488067	40488071	CTTAT	-	exonic	ZNF619	.	frameshift deletion	ZNF619:NM_001145083:exon4:c.1425_1429del:p.L476Ffs*21	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs769457170	1.026e-05	1.026e-05	1.089e-05	9.625e-06	0.0007	6.16e-06	4.89e-06	0.0002	0.0001	0	0	0	0	0	0.0007	7.194e-06	3.311e-05	1.159e-05	1.314e-05	1.313e-05	0	2.689e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3058.94	41	chr3	40488066	.	CCTTAT	C	3058.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=906;ExcessHet=0.0000;FS=1.955;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.88;ReadPosRankSum=2.16;SOR=0.714	GT:AD:DP:GQ:PL	0/1:82,80:162:99:3073,0,3201	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	2/4:1,0,37,0,35:73:99:3012,2944,2967,1363,1419,1310,2944,2967,1419,2967,1460,1484,0,1484,1348	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	2/4:1,0,37,0,35:73:99:3012,2944,2967,1363,1419,1310,2944,2967,1419,2967,1460,1484,0,1484,1348	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	2/4:1,0,37,0,35:73:99:3012,2944,2967,1363,1419,1310,2944,2967,1419,2967,1460,1484,0,1484,1348	1	3	1	0
chr3	42659204	42659204	C	G	exonic	ZBTB47	.	nonsynonymous SNV	ZBTB47:NM_145166:exon2:c.C849G:p.D283E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.053	N	1.000	D	0	N	-0.49	T	-0.847	T	0.040	T	0.024	-0.520	1.626	-6.61	-2.427	-1.185	0.077	0.118	.	.	0.00599042	0.0043	0.0326	0	0	0	0.0002	0	0	0.0002911	45	154602	rs339722	0.0009	0.0009	0.0010	0.0008	0.0311	0.0009	0.0008	0.0295	0.0288	0.0311	0.0019	0	0.0005	0	0.0013	4.711e-05	0.0019	0.0001	0.0077	0.0077	0.0079	0.0075	0.0262	0.0073	0.0072	0.0249	0.0244	0.0262	0	0.0046	0	0.0010	0	0	7.391e-05	0.0038	0.0002	1.0	0.00964	T	0.667	0.06365	T	.	.	.	.	.	.	0.052919	0.22854	N	0.434701	0.999997	0.58761	D	-0.28	0.03718	N	-0.49	0.70365	T	0.4	0.03463	N	0.068	0.04072	-0.8474	0.52148	T	0.040	0.17404	T	10	0.0023302436	0.00034	T	.	.	.	0.118	0.32913	0.225	0.14960	0.082315109003	0.07666	0.003311796078080994	0.00309	0.383668656916	0.39687	0.627155601978	0.56742	T	0.012382	0.10895	T	-0.294599	0.09179	T	-0.660947	0.08202	T	0.00432933672689897	0.00046	T	0.252875	0.03859	T	0.0238458	0.01159	0.021285662	0.00185	0.0238458	0.01159	0.021285662	0.00185	-1.221	0.01280	T	.	.	0.060	0.01011	B	.	.	-2.112783	0.00078	0.001	0.51032165693959308	0.04489	0.03176	0.08154	N	AEFDBHCI	0.024394	0.01506	N	-1.91254952012753	0.00324	0.01389453	-1.9845100870225	0.00330	0.01457393	0.999999613190071	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	3.31	-6.61	0.01652	-1.252000	0.02990	-1.941000	0.04461	-0.822000	0.02949	0.061000	0.21800	0.207000	0.23614	0.043000	0.14563	0.2784:0.229:0.1745:0.3181	0.077	0.00025	365	0.84644	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1223.09	33	chr3	42659204	.	CGAGGAG	GGAGGAG,C	1223.09	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.84;DP=824;ExcessHet=0.1072;FS=3.353;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.869;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,23,0:48:99:.:.:694,0,560,768,629,1397	19	0	1	0
chr3	42659205	42659210	GAGGAG	-	exonic	ZBTB47	.	nonframeshift deletion	ZBTB47:NM_145166:exon2:c.850_855del:p.E293_E294del,	.	.	336	1177	9	0	0	9	0.00380872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0	0	0	0	0	0	0.0096	0.0003299	51	154602	rs757343130	0.0003	0.0004	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	3.247e-05	8.644e-05	0	0	0	0.0013	3.486e-05	0.0004	0.0054	0.0002	0.0002	0.0001	0.0003	0.0038	0.0001	0.0001	0.0025	0.0020	0	0	0.0001	0	0.0002	0	0	7.391e-05	0.0005	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1223.09	33	chr3	42659204	.	CGAGGAG	GGAGGAG,C	1223.09	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.84;DP=824;ExcessHet=0.1072;FS=3.353;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.869;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,23,0:48:99:.:.:694,0,560,768,629,1397	19	0	1	0
chr3	44499482	44499482	A	G	exonic	ZNF852	.	nonsynonymous SNV	ZNF852:NM_001287349:exon4:c.T1295C:p.I432T,	.	.	372	1149	1	0	0	1	0.000434972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.999	D	.	.	0.998	N	.	.	5.47	T	-0.929	T	0.010	T	0.093	1.064	9.346	3.59	1.591	1.970	7.029	0.116	0.00886632180788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.163	0.31125	T	.	.	.	.	.	.	.	.	.	.	0.997922	0.22441	N	.	.	.	5.47	0.00949	T	-2.48	0.54059	N	0.37	0.41162	-0.9290	0.44284	T	0.010	0.03537	T	8	0.2349166	0.40542	T	0.008866	0.23390	T	0.116	0.32463	.	.	0.351180957027	0.34734	0.005035557774956674	0.00475	0.0278374496482	0.02851	0.603426933289	0.53388	T	0.079485	0.36140	T	-0.289987	0.09637	T	-0.654322	0.08654	T	0.815957188606262	0.47474	D	.	.	.	0.06578529	0.14094	0.09232431	0.21751	0.06578529	0.14094	0.09232431	0.21751	-3.356	0.14470	T	.	.	0.715	0.73558	P	.	.	1.967266	0.24989	16.60	0.99116623615554522	0.52880	0.01615	0.05224	N	AEFBHCI	0.156405	0.28175	N	0.05318487859266	0.44289	2.705666	-0.0991514343421911	0.35425	2.04941	0.020288928644898	0.13243	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	3.59	3.59	0.40253	3.527000	0.53272	4.483000	0.43541	-0.109000	0.15193	0.066000	0.21956	0.796000	0.26906	0.852000	0.40310	0.8882:0.0:0.1118:0.0	7.029	0.24136	323	0.86843	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2228.98	38	chr3	44499482	.	A	G	2228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.453;DP=996;ExcessHet=0.0000;FS=6.078;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.86;ReadPosRankSum=0.169;SOR=1.160	GT:AD:DP:GQ:PL	0/1:71,79:150:99:2243,0,1852	20	0	1	0
chr3	44734677	44734677	G	A	exonic	ZNF501	.	nonsynonymous SNV	ZNF501:NM_001258280:exon3:c.G256A:p.A86T	.	.	391	1126	5	0	0	5	0.00221533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.896	P	0.578	P	.	.	0.986	N	0.055	N	5.62	T	-0.776	T	0.003	T	0.308	3.128	16.45	2.18	1.717	0.253	5.257	0.078	0.0063210814903	.	.	0.0003	0	8.64e-05	0	0	8.993e-05	0	0.0016	0.0002135	33	154602	rs745487937	0.0001	0.0001	9.937e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0	2.236e-05	0	0	0	0.0016	3.957e-05	0.0001	0.0017	7.223e-05	7.218e-05	3.855e-05	0.0001	0.0012	3.968e-05	3.125e-05	0.0005	0.0004	0	0	0	0	0	0	0	7.352e-05	0	0.0012	0.108	0.29420	T	0.162	0.31225	T	0.896	0.49324	P	0.578	0.50118	P	.	.	.	.	0.985823	0.24675	N	-0.395	0.03011	N	5.62	0.00808	T	-2.41	0.52938	N	0.16	0.16725	-0.7758	0.56537	T	0.003	0.00929	T	9	0.023369193	0.00609	T	0.006321	0.16610	T	0.078	0.22779	.	.	0.141422826196	0.13715	0.009291137928946034	0.00892	0.0383201786277	0.04077	0.414821863174	0.27123	T	0.075378	0.35164	T	-0.534036	0.00364	T	-0.564509	0.15957	T	0.124086875290553	0.14824	T	.	.	.	0.13500898	0.31347	0.1833367	0.41317	0.13500898	0.31347	0.1833367	0.41317	-4.273	0.27797	T	.	.	0.154	0.34004	B	.;.	.;.	2.964728	0.39493	21.0	0.99881474803857029	0.95733	0.01331	0.04588	N	AEFDBHCI	0.095463	0.19287	N	-0.217809172301405	0.32403	1.827035	-0.240440792622668	0.30102	1.692034	0.00749894686611121	0.11479	0.554377	0.28877	0	0.588066	0.40923	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	3.07	2.18	0.26813	0.614000	0.24009	0.701000	0.20846	0.676000	0.76740	0.371000	0.25932	0.197000	0.23541	0.999000	0.91618	0.1213:0.0:0.6719:0.2067	5.257	0.14870	323	0.86843	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	1368.98	41	chr3	44734677	.	G	A	1368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.107e+00;DP=884;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=0.650;SOR=0.702	GT:AD:DP:GQ:PL	0/1:59,54:113:99:1383,0,1597	20	0	1	0
chr3	45458824	45458824	G	A	exonic	LARS2	.	nonsynonymous SNV	LARS2:NM_001368263:exon7:c.G688A:p.G230R	Perrault syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.985	H	-1.46	T	0.868	D	0.805	D	0.93	5.208	33	5.41	2.711	9.420	19.557	0.878	0.289719449093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	2.723e-06	5.5e-06	0.0002	1.48e-06	9.7e-07	7.2e-07	2e-07	2.987e-05	0	0	0	0	0.0002	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.16	0.97626	H	-1.46	0.80983	T	-8.0	0.96495	D	0.955	0.96416	0.868	0.95251	D	0.805	0.93400	D	10	0.93740594	0.93069	D	0.289719	0.90521	D	0.878	0.96391	0.763	0.89133	0.910324508252	0.90943	.	.	0.911273094519	0.71074	0.782615482807	0.79322	T	0.575791	0.86028	D	0.454619	0.92687	D	0.415252	0.92597	D	0.999876737594604	0.99471	D	0.997089	0.98875	D	0.9753151	0.98733	0.9598792	0.98965	0.9753151	0.98733	0.9598792	0.98966	-11.266	0.81097	D	0.7885430232289009	0.86735	0.302	0.63514	B	.;.;.;.;.	.;.;.;.;.	5.605644	0.92493	32	0.99939593089325485	0.99734	0.99200	0.92708	D	AEFBI	0.903526	0.85271	D	0.997864454009863	0.95678	13.85426	0.879112415374974	0.94596	12.88621	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	9.516000	0.97042	11.733000	0.95036	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.557	0.95343	640	0.64132	Aminoacyl-tRNA synthetase, class Ia;Aminoacyl-tRNA synthetase, class Ia;Aminoacyl-tRNA synthetase, class Ia;Aminoacyl-tRNA synthetase, class Ia;Aminoacyl-tRNA synthetase, class Ia	.	.	.	.	.	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	1256.98	40	chr3	45458824	.	G	A	1256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.448e+00;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=1.22;SOR=0.716	GT:AD:DP:GQ:PL	0/1:44,53:97:99:1271,0,1112	20	0	1	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	1/1:0,78,0:78:99:3469,235,0,3469,235,3469	2	7	11	0
chr3	47877502	47877502	C	T	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001384817:exon5:c.G482A:p.G161E	.	.	429	1092	1	0	0	1	0.000457666	.	.	3284889	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.998	D	0.979	D	.	.	0.998	N	1.61	L	3.05	T	-1.019	T	0.132	T	0.401	2.468	14.21	2.03	0.910	0.394	4.035	0.094	0.0269859151082	7.7e-05	0.000199681	5.824e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs138150160	4.448e-05	4.446e-05	3.541e-05	5.365e-05	5.038e-05	3.576e-05	3.258e-05	3.978e-05	3.575e-05	0	4.474e-05	0.0003	0	0	0	5.038e-05	0	0	0.0001	0.0001	0.0001	6.716e-05	0.0002	6.509e-05	5.321e-05	0.0001	8.878e-05	0	0	6.54e-05	0.0006	0	0	0	0.0002	0	0	0.003	0.72154	D	0.46	0.46862	T	0.997	0.70673	D	0.951	0.68939	D	.	.	.	.	0.998147	0.44558	D	1.445	0.36358	L	3.01	0.20122	T	-3.88	0.75375	D	0.172	0.20395	-1.0189	0.24074	T	0.132	0.44327	T	9	0.055051148	0.05957	T	0.026986	0.49848	D	0.094	0.27141	.	.	0.423100939653	0.41925	0.05572257678198632	0.05513	0.152093685501	0.17161	0.337380170822	0.16045	T	0.039691	0.69882	T	-0.291382	0.09497	T	-0.440992	0.28697	T	0.282822378945746	0.24289	T	0.89491	0.64041	D	0.21963407	0.44500	0.23647124	0.48920	0.21963407	0.44500	0.23647124	0.48919	-2.546	0.07371	T	.	.	0.173	0.43269	B	.;.;.;.;.;.	.;.;.;.;.;.	1.985020	0.25217	16.68	0.99448168187344743	0.65122	0.09505	0.15246	N	ALL	0.082608	0.16729	N	-0.104297110342977	0.37206	2.161255	-0.180263753553964	0.32262	1.833791	0.999987355950668	0.51787	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.616919	0.45865	0	.	.	6.17	2.03	0.25714	0.462000	0.21667	1.460000	0.26674	0.599000	0.40250	0.014000	0.18986	0.258000	0.23964	0.417000	0.27162	0.2486:0.3319:0.3441:0.0754	4.035	0.09209	9	0.99126	.;.;.;.;.;.	.	.	.	.	.	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	960.98	33	chr3	47877502	.	C	T	960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.67;DP=765;ExcessHet=0.0000;FS=2.156;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=1.01;SOR=1.129	GT:AD:DP:GQ:PL	0/1:34,34:68:99:975,0,855	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	1/2:0,44,37:81:99:3388,1546,1442,1845,0,1734	0	4	6	0
chr3	49701540	49701540	C	T	exonic	RNF123	.	nonsynonymous SNV	RNF123:NM_022064:exon16:c.C1327T:p.R443C,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.993	D	0.001	D	1.000	D	0.695	N	-0.84	T	-0.104	T	0.456	T	0.925	4.369	23.0	5.56	2.618	2.143	13.487	0.416	0.21340056963	0.0008	0.000399361	0.0007	0	8.651e-05	0	0.0011	0.0011	0.0022	0.0001	0.0006339	98	154602	rs146225272	0.0008	0.0008	0.0008	0.0008	0.0019	0.0007	0.0007	0.0011	0.0008	0.0002	4.472e-05	0.0014	7.557e-05	0.0010	0.0019	0.0008	0.0008	0.0002	0.0006	0.0006	0.0006	0.0007	0.0011	0.0005	0.0005	0.0009	0.0008	0.0001	0	0.0003	0.0009	0.0006	0.0008	0.0034	0.0011	0.0005	0	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000612	0.42945	D	0.199190	0.999998	0.58761	D	1.04	0.26193	L	-0.84	0.77466	T	-1.49	0.36385	N	0.927	0.93135	-0.1039	0.80009	T	0.456	0.78831	T	10	0.39169902	0.54938	T	0.213401	0.87404	D	0.416	0.72631	.	.	0.887479045773	0.88637	0.6207227270239724	0.62005	1.07698736004	0.77008	0.756863951683	0.75462	T	0.035191	0.23621	T	0.0233432	0.54833	T	0.236127	0.84965	D	0.0914466429840307	0.11388	T	0.965803	0.87368	D	0.22486103	0.45136	0.12259821	0.29572	0.22486103	0.45136	0.12259821	0.29572	-8.424	0.63924	D	.	.	0.677	0.72018	P	.;.	.;.	5.309389	0.89129	29.9	0.99937464969036316	0.99661	0.90928	0.52528	D	AEFDGBHCI	0.629214	0.61101	D	0.476231909942905	0.65704	4.856241	0.501614158467823	0.68099	5.173581	0.999999841782201	0.74766	0.789315	0.99827	0	0.577304	0.33150	0	0.768056	0.98339	0	0.635551	0.53088	0	.	.	5.56	5.56	0.83678	2.179000	0.42157	4.856000	0.45423	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	0.1561:0.8438:0.0:0.0	13.487	0.60824	1	0.99630	.;.	.	.	.	.	.	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	962.98	59	chr3	49701540	.	C	T	962.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=914;ExcessHet=0.0000;FS=3.389;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.59;ReadPosRankSum=0.960;SOR=0.982	GT:AD:DP:GQ:PL	0/1:30,36:66:99:977,0,667	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	0/1:14,17,0:31:99:672,0,537,714,588,1302	5	0	8	1
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|1:72,117:189:99:0|1:75730450_C_T:4676,0,2655:75730450	0	0	20	1
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I,	.	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1725.72	84	chr3	75730611	.	G	T	1725.72	.	AC=10;AF=0.250;AN=40;BaseQRankSum=0.901;DP=1563;ExcessHet=6.1002;FS=32.590;InbreedingCoeff=-0.3415;MLEAC=10;MLEAF=0.250;MQ=56.09;MQRankSum=-5.845e+00;QD=2.20;ReadPosRankSum=-2.408e+00;SOR=8.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,15:89:99:.:.:374,0,3022	10	0	10	1
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*	.	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	13057.87	155	chr3	75736884	.	G	GA	13057.87	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.070e-01;DP=3250;ExcessHet=25.1139;FS=1.336;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=56.86;MQRankSum=-7.182e+00;QD=4.87;ReadPosRankSum=0.148;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,66:169:99:0|1:75736884_G_GA:2461,0,4119:75736884	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|1:106,68:174:99:0|1:75736884_G_GA:2536,0,4211:75736884	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|1:111,60:171:99:0|1:75736920_C_A:2185,0,4480:75736920	0	0	21	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I	.	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.219	B	0.007	B	.	.	1.000	N	0	N	3.47	T	-0.947	T	0.008	T	0.512	0.877	8.556	0.364	0.148	-0.065	3.729	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28464.74	166	chr3	75736928	.	C	T	28464.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.43;DP=3516;ExcessHet=54.0936;FS=0.608;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.92;MQRankSum=-9.076e+00;QD=8.18;ReadPosRankSum=-5.000e-02;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,60:172:99:0|1:75736920_C_A:2182,0,4502:75736920	0	0	21	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R	.	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.02	B	0.004	B	.	.	1.000	N	0	N	5.46	T	-0.923	T	0.002	T	0.494	-0.366	2.277	-0.78	-0.138	-1.375	1.651	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	17679.81	152	chr3	75736981	.	T	C	17679.81	.	AC=17;AF=0.500;AN=34;BaseQRankSum=-2.640e-01;DP=3565;ExcessHet=25.1139;FS=0.572;InbreedingCoeff=-0.8248;MLEAC=19;MLEAF=0.559;MQ=52.43;MQRankSum=-7.792e+00;QD=6.08;ReadPosRankSum=-1.711e+00;SOR=0.773	GT:AD:DP:GQ:PL	0/1:90,83:173:99:2165,0,2601	0	0	17	4
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K	.	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.049	B	0.048	B	.	.	1.000	N	-0.705	N	2.16	T	-0.957	T	0.015	T	0.509	0.585	7.159	-0.008	0.009	-2.650	2.041	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	25498.56	170	chr3	75737012	.	C	T	25498.56	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-8.280e-01;DP=3725;ExcessHet=36.0830;FS=0.550;InbreedingCoeff=-0.8529;MLEAC=19;MLEAF=0.475;MQ=53.26;MQRankSum=-5.813e+00;QD=7.76;ReadPosRankSum=-2.080e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:84,97:181:99:2689,0,2743	1	0	19	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P	.	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.178	B	0.056	B	.	.	1.000	N	2.8	M	3.15	T	-1.043	T	0.033	T	0.597	1.732	11.75	1.59	1.020	-3.336	7.316	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	33734.43	171	chr3	75737060	.	A	G	33734.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.003e+00;DP=4296;ExcessHet=43.6797;FS=0.535;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.79;MQRankSum=-5.923e+00;QD=8.57;ReadPosRankSum=1.41;SOR=0.754	GT:AD:DP:GQ:PL	0/1:80,145:225:99:3592,0,2330	1	0	20	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y	.	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	1.000	N	3.55	H	-1.94	D	-0.050	T	0.770	D	0.423	2.226	13.40	0.518	0.202	3.803	5.69	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66693.74	186	chr3	75737092	.	C	T	66693.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.370e+00;DP=4347;ExcessHet=54.0936;FS=3.268;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.30;MQRankSum=-9.287e+00;QD=15.47;ReadPosRankSum=0.780;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,158:233:99:0|1:75737092_C_T:6353,0,2673:75737092	0	0	21	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S	.	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.003	B	.	.	0.811	N	0.185	N	2.5	T	-0.966	T	0.015	T	0.48	0.761	8.026	-1.65	-0.344	-3.350	0.098	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66461.74	187	chr3	75737094	.	T	A	66461.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.054e+00;DP=4329;ExcessHet=54.0936;FS=4.136;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.41;MQRankSum=-9.552e+00;QD=15.42;ReadPosRankSum=0.880;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,158:235:99:0|1:75737092_C_T:6347,0,2758:75737092	0	0	21	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X	.	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.506	37	1.59	1.020	2.954	7.316	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	64403.74	176	chr3	75737105	.	T	A	64403.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.795e+00;DP=4269;ExcessHet=54.0936;FS=5.083;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.87;MQRankSum=-1.015e+01;QD=15.17;ReadPosRankSum=0.373;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,148:225:99:0|1:75737092_C_T:5983,0,2788:75737092	0	0	21	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q	.	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.738	P	0.672	P	.	.	1.000	N	3.595	H	-2.18	D	0.069	D	0.747	D	0.504	1.222	9.956	0.372	0.124	0.275	4.797	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54907.74	170	chr3	75737127	.	A	C	54907.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.246e+00;DP=4011;ExcessHet=54.0936;FS=5.236;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.48;MQRankSum=-1.090e+01;QD=13.78;ReadPosRankSum=0.018;SOR=1.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,127:212:99:0|1:75737092_C_T:5077,0,3187:75737092	0	0	21	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del	.	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	31686.7	129	chr3	75737163	.	CCTACATTCT	C	31686.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.49;DP=3384;ExcessHet=54.0936;FS=14.269;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.84;MQRankSum=-1.107e+01;QD=9.48;ReadPosRankSum=-6.730e-01;SOR=1.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,94:192:99:0|1:75737092_C_T:3652,0,3816:75737092	0	0	21	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A	.	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.041	B	0.015	B	.	.	1.000	N	0.2	N	2.5	T	-0.978	T	0.017	T	0.263	-0.128	3.371	0.509	0.160	-3.097	4.801	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2374.81	109	chr3	75737228	.	T	C	2374.81	.	AC=11;AF=0.262;AN=42;BaseQRankSum=1.77;DP=2347;ExcessHet=7.7275;FS=19.670;InbreedingCoeff=-0.3588;MLEAC=11;MLEAF=0.262;MQ=57.63;MQRankSum=-9.053e+00;QD=1.98;ReadPosRankSum=-1.729e+00;SOR=2.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:108,19:127:99:.:.:392,0,4453	10	0	11	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S	.	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.588	P	0.118	B	.	.	1.000	N	0.78	N	3.45	T	-0.962	T	0.011	T	0.402	2.344	13.80	0.281	0.088	6.618	6.406	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	84334.74	182	chr3	75737519	.	G	A	84334.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.22;DP=4534;ExcessHet=54.0936;FS=3.213;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.20;MQRankSum=-6.820e+00;QD=19.56;ReadPosRankSum=0.348;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:117,176:293:99:.:.:6901,0,4151	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|1:124,192:316:99:0|1:75737590_A_G:7601,0,4609:75737590	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|1:135,209:344:99:0|1:75737590_A_G:8370,0,5040:75737590	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|1:134,220:354:99:0|1:75737590_A_G:8834,0,4964:75737590	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|1:131,215:346:99:0|1:75737590_A_G:8633,0,4853:75737590	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|1:116,221:337:99:0|1:75737590_A_G:8931,0,4206:75737590	0	0	21	0
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|1:177,98:275:99:0|1:75737881_T_C:3015,0,6968:75737881	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|1:182,71:253:99:0|1:75737881_T_C:2243,0,7361:75737881	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|1:179,66:245:99:0|1:75737881_T_C:2126,0,7277:75737881	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|1:238,54:292:99:0|1:75737994_T_C:1551,0,9726:75737994	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|1:232,50:282:99:0|1:75737994_T_C:1401,0,9591:75737994	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|1:228,38:266:99:0|1:75737994_T_C:909,0,9459:75737994	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|1:225,34:259:99:0|1:75737994_T_C:750,0,9345:75737994	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|1:225,34:259:99:0|1:75737994_T_C:750,0,9345:75737994	12	0	8	1
chr3	75738100	75738100	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1523G:p.E508G	.	.	348	1167	7	0	0	7	0.00299018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.051	B	0.018	B	.	.	1.000	N	1.605	L	3.17	T	-0.965	T	0.018	T	0.433	2.181	13.25	-1.16	-0.196	-1.100	2.211	0.056	0.00108464547182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	7.222e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	-4.64	0.79316	D	0.093	0.07262	-0.9647	0.38270	T	0.018	0.07518	T	9	0.0837622	0.13969	T	0.001085	0.01263	T	0.056	0.15993	.	.	0.0297737177859	0.01360	0.0024874068709695107	0.00230	.	.	0.391209244728	0.23840	T	.	.	.	-0.207823	0.19686	T	-0.5363	0.18662	T	0.836542546749115	0.49048	D	0.0133987	0.00072	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.43721	B	.	.	1.912526	0.24293	16.34	0.99674252685792053	0.78782	0.00841	0.03370	N	AEFDBHCIJ	0.042616	0.06635	N	-0.890987982149614	0.11055	0.5315283	-0.985280104525926	0.10115	0.5074318	0.999965122713944	0.48965	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.9	-1.16	0.09181	-0.659000	0.05423	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4643:0.1624:0.0:0.3733	2.211	0.03707	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	98.42	194	chr3	75738100	.	T	C	98.42	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.354e+00;DP=3501;ExcessHet=0.1072;FS=17.067;InbreedingCoeff=-0.0385;MLEAC=1;MLEAF=0.024;MQ=58.20;MQRankSum=-1.008e+01;QD=0.23;ReadPosRankSum=-3.737e+00;SOR=2.725	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,18:232:99:0|1:75737994_T_C:112,0,8932:75737994	19	0	2	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E	.	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.981	D	0.792	P	.	.	1.000	N	1.63	L	1.0	T	-1.005	T	0.128	T	0.5	0.800	8.209	0.059	0.039	0.285	5.008	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	5856.69	126	chr3	75739165	.	C	T	5856.69	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-8.800e-02;DP=2841;ExcessHet=36.0830;FS=16.853;InbreedingCoeff=-0.8321;MLEAC=19;MLEAF=0.452;MQ=57.03;MQRankSum=-7.844e+00;QD=2.33;ReadPosRankSum=-1.424e+00;SOR=1.267	GT:AD:DP:GQ:PL	0/1:113,35:148:99:535,0,3248	2	0	19	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K	.	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.588	P	0.118	B	.	.	1.000	N	0.805	L	0.91	T	-1.039	T	0.052	T	0.501	-1.711	0.011	-0.13	-0.008	-0.013	8.996	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	13994.74	75	chr3	75739283	.	G	T	13994.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.485e+00;DP=2154;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.74;MQRankSum=-4.923e+00;QD=6.68;ReadPosRankSum=0.840;SOR=0.744	GT:AD:DP:GQ:PL	0/1:68,59:127:99:1249,0,1825	0	0	21	0
chr3	81705581	81705581	A	G	exonic	GBE1	.	nonsynonymous SNV	GBE1:NM_000158:exon2:c.T176C:p.I59T,	Glycogen storage disease IV, Autosomal recessive;Polyglucosan body disease, adult form, Autosomal recessive	YES	4	1508	10	0	0	10	0.00330469	.	.	251288	Glycogen_storage_disease,_type_IV|not_provided|Glycogen_storage_disease_IV,_classic_hepatic|Adult_polyglucosan_body_disease|not_specified	MONDO:MONDO:0009292,MedGen:C0017923,OMIM:232500,Orphanet:367|MedGen:C3661900|MedGen:C1856301|MONDO:MONDO:0009897,MedGen:C1849722,OMIM:263570,Orphanet:206583|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.928	P	0.666	P	0.000	D	1.000	D	2.665	M	2.04	T	-0.881	T	0.103	T	0.707	3.179	16.64	5.68	2.170	7.725	15.602	0.441	.	0.0064	0.00259585	0.0097	0.0024	0.0421	0	0.0063	0.0133	0.0055	0.0010	0.0001153	3	26028	rs28763904	0.0085	0.0085	0.0088	0.0082	0.0160	0.0084	0.0083	0.0149	0.0145	0.0014	0.0160	0.0017	2.635e-05	0.0046	0.0023	0.0097	0.0080	0.0014	0.0058	0.0059	0.0060	0.0057	0.0088	0.0055	0.0054	0.0082	0.0079	0.0026	0	0.0085	0.0012	0	0.0038	0	0.0088	0.0028	0.0010	0.034	0.91255	D	0.029	0.63109	D	0.77	0.51611	P	0.635	0.52990	P	0.000001	0.62929	D	0.060137	0.999754	0.48800	D	2.81	0.81869	M	2.04	0.22881	T	-4.06	0.74582	D	0.751	0.76111	-0.8811	0.49673	T	0.103	0.37919	T	10	0.008882791	0.00201	T	.	.	.	0.441	0.74447	.	.	0.554998169399	0.55159	0.8401685403857482	0.83976	0.0776506249003	0.08735	0.550522863865	0.45930	T	0.80746	0.95153	D	-0.238304	0.15566	T	-0.100147	0.63387	T	0.0341103399524452	0.02657	T	0.80472	0.45382	T	0.55795115	0.70396	0.46722043	0.69090	0.6176909	0.73641	0.40715906	0.65069	-9.391	0.70179	D	0.4827135688746418	0.56107	0.219	0.46631	B	.;.	.;.	4.169048	0.62671	24.5	0.99722489659481284	0.82125	0.98285	0.81260	D	AEFBI	0.877212	0.80171	D	0.638303647204842	0.75615	6.337142	0.626751715871886	0.76887	6.574937	0.999992195512693	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.68	5.68	0.88021	7.792000	0.84405	11.054000	0.85340	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.753000	0.35893	1.0:0.0:0.0:0.0	15.602	0.76378	725	0.54935	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1161.98	36	chr3	81705581	.	A	G	1161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.810e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=1.34;SOR=0.675	GT:AD:DP:GQ:PL	0/1:46,55:101:99:1176,0,965	20	0	1	0
chr3	97876101	97876101	T	A	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.T4907A:p.V1636E,	.	.	550	963	7	2	0	11	0.00567888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0015368	40	26028	rs563227058	0.0019	0.0014	0.0020	0.0019	0.0058	0.0019	0.0019	0.0037	0.0031	0.0003	0.0010	0.0025	0	4.646e-05	0.0058	0.0021	0.0026	0.0008	0.0014	0.0014	0.0015	0.0013	0.0023	0.0012	0.0012	0.0020	0.0018	0.0005	0	0.0010	0.0032	0	0	0.0136	0.0023	0.0014	0.0006	.	.	.	0.518	0.10536	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	.	.	.	.	.	.	.	0.082324326	0.13574	T	.	.	.	.	.	.	.	0.511390160789	0.50780	0.018251165105256286	0.01779	.	.	.	.	.	0.006785	0.06218	T	-0.352112	0.04595	T	-0.283488	0.46446	T	.	.	.	0.283372	0.04986	T	0.2454906	0.47508	0.42236373	0.66140	0.2454906	0.47508	0.42236373	0.66140	-6.021	0.46455	T	.	.	0.155	0.34361	B	.	.	0.785365	0.11556	8.151	0.69355214578720015	0.08946	0.05428	0.11301	N	AEFBI	.	.	.	.	.	.	.	.	.	6.40570740953169E-5	0.04366	0.162113	0.03585	0	0.195528	0.04277	0	0.183335	0.04453	0	0.24566	0.04862	0	0.173009	0.29061	4.69	-0.601	0.11054	0.026000	0.13490	-0.205000	0.10907	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.082000	0.17360	0.0:0.3364:0.0:0.6636	8.498	0.32299	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2235.98	153	chr3	97876101	.	T	A	2235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=2709;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-1.810e-01;SOR=0.673	GT:AD:DP:GQ:PL	0/1:111,84:195:99:2250,0,3206	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	0/1:146,36:182:19:19,0,2673	12	0	8	1
chr3	100319089	100319089	A	G	exonic	TBC1D23	.	nonsynonymous SNV	TBC1D23:NM_018309:exon16:c.A1663G:p.M555V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	0.000	N	1.000	D	0.205	N	1.61	T	-1.083	T	0.041	T	0.258	1.999	12.64	5.01	1.146	7.014	12.186	0.061	0.00883500491593	.	.	4.173e-05	0	0	0	0	7.598e-05	0	0	3.23e-05	5	154602	rs773646253	1.477e-05	1.779e-05	1.542e-05	1.412e-05	3.689e-05	9.49e-06	8.06e-06	9.8e-06	7.8e-06	0	0	0	0	0	0	1.566e-05	1.695e-05	3.689e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.543e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	6.543e-05	0	0	0	0	0	0	0	0.284	0.15354	T	0.286	0.21411	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	N	0.170658	0.999984	0.58761	D	0.345	0.11182	N	1.61	0.28391	T	-0.46	0.17624	N	0.241	0.27197	-1.0828	0.06814	T	0.041	0.17785	T	9	0.09637201	0.17281	T	0.008835	0.23294	T	0.061	0.17616	0.134	0.03833	0.343101102393	0.33919	0.41618546311424287	0.41534	0.249498265086	0.27528	0.621804058552	0.55984	T	0.018408	0.14847	T	-0.281728	0.10485	T	-0.47982	0.24466	T	0.282751381397247	0.24287	T	0.857914	0.55085	D	0.20978561	0.43256	0.13901748	0.33183	0.20978561	0.43256	0.13901748	0.33182	-0.074	0.00795	T	.	.	0.058	0.01408	B	.;.;.	.;.;.	2.499370	0.32263	18.99	0.91899831121817832	0.21220	0.97378	0.74370	D	AEFGBI	0.824295	0.74422	D	-0.14059470238683	0.35637	2.04943	0.0944941071340843	0.44272	2.712137	0.999937796524508	0.46732	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	6.16	5.01	0.66477	7.002000	0.76057	9.317000	0.80010	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9339:0.0:0.0661:0.0	12.186	0.53549	507	0.75469	.;.;.	.	.	.	.	.	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	493.98	33	chr3	100319089	.	A	G	493.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=763;ExcessHet=0.0000;FS=3.374;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.86;ReadPosRankSum=-2.090e+00;SOR=1.125	GT:AD:DP:GQ:PL	0/1:49,23:72:99:508,0,1158	20	0	1	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.217	B	0.064	B	0.130	N	1.000	N	0.69	N	2.23	T	-0.991	T	0.069	T	0.165	-0.071	3.653	-1.84	-0.269	-0.189	9.015	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4048	2827.45	43	chr3	100775333	.	T	C	2827.45	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-7.940e-01;DP=858;ExcessHet=25.1139;FS=205.111;InbreedingCoeff=-0.6641;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.20;ReadPosRankSum=0.283;SOR=11.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,11:46:2:.:.:2,0,593	4	0	17	0
chr3	101565080	101565080	T	C	exonic	TRMT10C	.	nonsynonymous SNV	TRMT10C:NM_017819:exon2:c.T299C:p.M100T,	Combined oxidative phosphorylation deficiency 30, Autosomal recessive	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.894	P	0.314	B	0.000	N	0.999	D	1.745	L	0.79	T	-0.952	T	0.122	T	0.568	2.465	14.20	4.71	1.152	3.768	12.199	0.118	0.0146547116321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.199	0.40747	T	0.894	0.49185	P	0.314	0.41528	B	0.000053	0.53742	N	0.216781	0.999354	0.46766	D	.	.	.	0.79	0.49068	T	-2.99	0.62151	D	0.282	0.31925	-0.9520	0.40625	T	0.122	0.42441	T	10	0.36608166	0.53111	T	0.014655	0.34921	T	0.118	0.32913	0.418	0.45873	0.462809833587	0.45907	0.4587298760086353	0.45790	0.20180106585	0.22587	0.579505085945	0.50017	T	0.056198	0.30219	T	-0.0435187	0.45425	T	-0.300288	0.44694	T	0.881214261054993	0.53126	D	0.562144	0.19728	T	0.1976623	0.41639	0.21658497	0.46292	0.1976623	0.41638	0.21658497	0.46291	-4.737	0.33848	T	0.2244901813620153	0.30318	0.323	0.54739	B	.;.	.;.	2.697360	0.35225	19.84	0.98456860837395654	0.41688	0.98252	0.80950	D	AEFDBI	0.555443	0.56588	D	0.304343462312157	0.56372	3.801731	0.357303344708187	0.58947	4.068827	0.9999997076676	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.87	4.71	0.59010	3.731000	0.54739	5.077000	0.47232	-0.121000	0.13915	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0666:0.0:0.9334	12.199	0.53625	491	0.76657	.;.	.	.	.	.	.	Uncertain significance	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	893.98	37	chr3	101565080	.	T	C	893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.295e+00;DP=789;ExcessHet=0.0000;FS=5.417;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-5.160e-01;SOR=0.273	GT:AD:DP:GQ:PL	0/1:30,40:70:99:908,0,816	20	0	1	0
chr3	112264236	112264236	T	G	exonic	SLC9C1	.	nonsynonymous SNV	SLC9C1:NM_183061:exon9:c.A986C:p.Y329S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.955	D	0.007	N	1.000	D	1.735	L	2.46	T	-1.112	T	0.083	T	0.634	2.847	15.48	4.8	1.050	2.594	8.873	0.243	0.0331758619903	.	.	5.203e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs779280371	1.557e-05	1.375e-05	1.201e-05	1.919e-05	0.0002	9.73e-06	8.03e-06	6.7e-06	4.69e-06	0	0	0	0	0	0.0002	1.196e-05	8.452e-05	4.043e-05	1.976e-05	1.97e-05	2.575e-05	1.349e-05	4.424e-05	5.25e-06	2.46e-06	1.175e-05	6.26e-06	0	0	0	0	0	0	0	4.424e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.955	0.69585	D	0.006681	0.31877	N	0.222293	1	0.81001	D	2.215	0.62545	M	2.46	0.14907	T	-6.49	0.91564	D	0.509	0.54059	-1.1120	0.02903	T	0.083	0.32440	T	10	0.44379628	0.58268	T	0.033176	0.54798	D	0.243	0.54921	.	.	0.356281029322	0.35234	0.5268391540145058	0.52607	0.402490943859	0.41201	0.489384591579	0.37353	T	0.199304	0.55655	T	-0.187411	0.22639	T	-0.316597	0.42946	T	0.769926249980927	0.44435	D	.	.	.	0.5979427	0.72581	0.7296259	0.84025	0.5979427	0.72582	0.7296259	0.84026	-6.693	0.51758	T	.	.	0.177	0.38729	B	.	.	3.424886	0.47571	22.5	0.98828116294160551	0.46902	0.82525	0.41740	D	AEFI	0.327366	0.42836	N	0.428138835470739	0.62974	4.522592	0.396178204800038	0.61329	4.331479	8.79508387765871E-4	0.07946	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.96	4.8	0.61157	2.432000	0.44442	4.993000	0.46541	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.743000	0.35541	0.1866:0.0:0.0:0.8134	8.873	0.34483	541	0.72942	Cation/H+ exchanger	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	681.98	35	chr3	112264236	.	T	G	681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.017;DP=687;ExcessHet=0.0000;FS=1.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=0.344;SOR=0.512	GT:AD:DP:GQ:PL	0/1:18,32:50:99:696,0,324	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	2/2:0,0,80,0,0,0:80:99:3604,3604,3604,243,243,0,3604,3604,243,3604,3604,3604,243,3604,3604,3604,3604,243,3604,3604,3604	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	2/2:0,0,80,0,0,0:80:99:3604,3604,3604,243,243,0,3604,3604,243,3604,3604,3604,243,3604,3604,3604,3604,243,3604,3604,3604	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	2/2:0,0,80,0,0,0:80:99:3604,3604,3604,243,243,0,3604,3604,243,3604,3604,3604,243,3604,3604,3604,3604,243,3604,3604,3604	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	2/2:0,0,80,0,0,0:80:99:3604,3604,3604,243,243,0,3604,3604,243,3604,3604,3604,243,3604,3604,3604,3604,243,3604,3604,3604	0	4	0	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.003	B	0.006	B	0.408	N	1.000	N	1.39	L	2.45	T	-1.002	T	0.036	T	0.11	-1.422	0.021	-1.89	-0.182	-1.460	2.032	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4118	1321.45	117	chr3	121697608	.	C	T	1321.45	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-2.821e+00;DP=2409;ExcessHet=14.4320;FS=218.851;InbreedingCoeff=-0.6164;MLEAC=16;MLEAF=0.471;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=0.342;SOR=12.895	GT:AD:DP:GQ:PL	0/1:89,32:134:36:36,0,1539	3	0	14	4
chr3	124678258	124678258	A	C	exonic	KALRN	.	nonsynonymous SNV	KALRN:NM_001322993:exon17:c.A2168C:p.E723A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.231	B	0.081	B	0.003	N	1.000	D	0.55	N	0.52	T	-0.908	T	0.160	T	0.709	4.004	20.5	5.5	2.308	7.977	14.337	0.188	0.00852363313028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.26192	T	0.441	0.18789	T	.	.	.	.	.	.	0.002697	0.36102	N	0.237020	0.994496	0.42303	D	.	.	.	0.21	0.59983	T	-2.18	0.49187	N	0.536	0.56403	-0.9076	0.47145	T	0.160	0.49413	T	10	0.35967982	0.52630	T	0.008524	0.22532	T	0.188	0.46444	.	.	0.820359893004	0.81866	.	.	.	.	0.558271825314	0.47024	T	0.020609	0.16197	T	0.0935621	0.63589	D	-0.103381	0.63135	T	0.69426554441452	0.40446	D	0.90121	0.65680	D	.	.	.	.	.	.	.	.	-3.393	0.14963	T	.	.	0.195	0.48827	B	.;.	.;.	4.164113	0.62562	24.5	0.99230803790696565	0.56214	0.98810	0.87149	D	AEFBI	0.889077	0.82283	D	0.331911587833884	0.57792	3.948152	0.460343218329621	0.65382	4.816948	0.999998634513676	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.5	5.5	0.81386	7.958000	0.87417	9.429000	0.80790	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.337	0.66154	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	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	1928.98	37	chr3	124678258	.	A	C	1928.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=868;ExcessHet=0.0000;FS=0.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=-5.160e-01;SOR=0.620	GT:AD:DP:GQ:PL	0/1:94,80:174:99:1943,0,2223	20	0	1	0
chr3	132619490	132619490	G	C	exonic	ACAD11	.	nonsynonymous SNV	ACAD11:NM_032169:exon10:c.C1253G:p.P418R,	.	.	527	990	4	1	0	6	0.00302115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	1.0	D	.	.	1.000	D	2.265	M	1.81	T	1.049	D	0.985	D	0.767	3.132	16.47	4.92	1.399	4.814	14.945	0.735	.	0.0003	0.00259585	0.0019	9.69e-05	0.0010	0	0	0.0006	0.0056	0.0101	0.0016753	259	154602	rs148899232	0.0008	0.0009	0.0005	0.0010	0.0106	0.0008	0.0007	0.0084	0.0077	0.0004	0.0011	0.0008	2.592e-05	0	0.0106	0.0002	0.0013	0.0082	0.0008	0.0008	0.0005	0.0012	0.0100	0.0007	0.0007	0.0077	0.0069	0.0001	0	0.0023	0.0003	0	0	0.0102	0.0005	0.0014	0.0100	0.087	0.43085	T	0.109	0.37449	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999913	0.81001	D	3.43	0.92015	M	-6.42	0.99687	D	-4.2	0.75695	D	0.72	0.72209	1.049	0.98105	D	0.985	0.99561	D	9	0.00976187	0.00219	T	.	.	.	0.735	0.90764	.	.	0.987481040417	0.98734	0.7004209777693364	0.69983	0.641984679815	0.57776	.	.	.	0.62002	0.88076	D	0.0493975	0.58265	T	0.302745	0.88321	D	0.159044825812494	0.17801	T	0.765923	0.39447	T	0.6625053	0.76033	0.6638716	0.80295	0.6625053	0.76034	0.6638716	0.80296	-7.753	0.59375	D	.	.	0.372	0.64449	A	.;.	.;.	4.374519	0.67375	25.1	0.99674530769926195	0.78846	0.93991	0.59785	D	AEFGBI	0.620963	0.60583	D	0.616820060762509	0.74236	6.098817	0.583016148027399	0.73721	6.017323	0.985536609772924	0.30904	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	4.92	0.64147	5.228000	0.65139	9.890000	0.82266	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8558:0.1442	14.945	0.70675	845	0.36510	Acyl-CoA dehydrogenase/oxidase, 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	0.02381	253.98	33	chr3	132619490	.	G	C	253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.946;DP=748;ExcessHet=0.0000;FS=2.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.10;ReadPosRankSum=-1.242e+00;SOR=1.173	GT:AD:DP:GQ:PL	0/1:47,15:62:99:268,0,1116	20	0	1	0
chr3	139527326	139527326	C	T	exonic	RBP1	.	nonsynonymous SNV	RBP1:NM_001130992:exon3:c.G455A:p.R152H,	.	.	451	1069	0	2	0	4	0.00186741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.987	D	0.202	B	.	.	1.000	N	0	N	2.33	T	-0.998	T	0.008	T	0.061	0.274	5.483	-0.59	-0.364	-1.250	.	0.063	.	.	0.00379393	0	0	.	0	.	0	.	0	0.001191	31	26028	rs150559313	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0026	0.0026	0.0025	0.0027	0.0075	0.0024	0.0023	0.0068	0.0066	0.0075	0	0.0041	0	0	0	0.0034	0.0002	0.0043	0.0002	0.037	0.43085	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.33	0.16492	T	0.6	0.02518	N	0.05	0.02179	-0.9980	0.30479	T	0.008	0.02679	T	8	0.004828453	0.00103	T	.	.	.	0.063	0.18251	.	.	0.270889551736	0.26708	.	.	.	.	.	.	.	.	.	.	-0.731113	0.00023	T	-0.819244	0.01468	T	0.129788410471853	0.15363	T	0.419058	0.11093	T	.	.	.	.	.	.	.	.	-4.146	0.25966	T	.	.	0.115	0.22897	B	.	.	-0.164711	0.03276	0.560	0.90745678347320557	0.19995	0.00201	0.01154	N	AEFBI	0.039301	0.05688	N	-1.0777630857632	0.07055	0.3265894	-1.27954728735126	0.04707	0.2226854	0.786164548938878	0.23933	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.427	-0.59	0.11093	-1.412000	0.02582	0.000000	0.13247	-0.575000	0.04770	0.000000	0.06391	0.005000	0.19230	0.003000	0.05239	.	.	.	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	325.37	20	chr3	139527326	.	C	T	325.37	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-7.340e-01;DP=416;ExcessHet=0.0000;FS=1.657;InbreedingCoeff=-0.0276;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=0.643;SOR=0.368	GT:AD:DP:GQ:PL	0/1:12,14:26:99:339,0,318	19	0	1	1
chr3	142560393	142560393	C	G	exonic	ATR	.	nonsynonymous SNV	ATR:NM_001184:exon6:c.G1411C:p.E471Q,	Seckel syndrome 1, Autosomal recessive	.	6	1492	23	1	0	25	0.00830841	.	.	781576	Malignant_tumor_of_breast|ATR-related_disorder|Seckel_syndrome_1|not_provided	MONDO:MONDO:0007254,MedGen:C0006142|.|MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.966	D	0.462	P	0.001	D	1.000	D	0.895	L	3.89	T	-0.948	T	0.013	T	0.222	3.676	18.68	5.71	2.694	2.705	14.666	0.069	0.00418965340868	0.0002	0.000399361	0.0003	9.615e-05	0.0002	0.0001	0	0.0002	0	0.0016	0.0002911	45	154602	rs371350410	0.0002	0.0002	0.0002	0.0003	0.0047	0.0002	0.0002	0.0033	0.0028	0	0.0001	3.828e-05	0	0	0.0047	7.555e-05	0.0003	0.0019	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	0.0001	0.0011	0.0009	4.815e-05	0	0.0003	0	0	0	0	0.0001	0.0009	0.0021	0.04	0.42199	D	0.252	0.23570	T	0.966	0.56202	D	0.462	0.46509	P	0.000542	0.43413	D	0.194598	0.890296	0.81001	D	1.935	0.51832	L	3.89	0.03544	T	-0.4	0.13805	N	0.248	0.28028	-0.9477	0.41364	T	0.013	0.05321	T	10	0.020540774	0.00475	T	0.00419	0.10089	T	0.069	0.20116	.	.	0.481513848221	0.47781	0.1754174062515484	0.17460	0.258986536561	0.28452	0.32993337512	0.14924	T	0.067634	0.33252	T	-0.508172	0.00514	T	-0.509515	0.21366	T	0.0289342957624609	0.01827	T	0.781822	0.41691	T	0.17641845	0.38553	0.060204253	0.11427	0.1776186	0.38737	0.08973996	0.21003	-4.032	0.24281	T	.	.	0.103	0.18580	B	.	.	3.916840	0.57157	23.8	0.99569225907474168	0.72258	0.93136	0.57420	D	AEFBI	0.388594	0.46814	N	0.399765759058681	0.61409	4.341674	0.483359412086924	0.66890	5.01099	0.997645339739618	0.35855	0.732398	0.92422	0	0.653731	0.59785	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.71	5.71	0.89031	3.349000	0.51931	7.704000	0.66446	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1453:0.8547:0.0:0.0	14.666	0.68517	636	0.64483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1469.98	34	chr3	142560393	.	C	G	1469.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.010e-01;DP=822;ExcessHet=0.0000;FS=4.390;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-4.690e-01;SOR=1.099	GT:AD:DP:GQ:PL	0/1:59,62:121:99:1484,0,1387	20	0	1	0
chr3	148844485	148844485	G	A	exonic	CPB1	.	nonsynonymous SNV	CPB1:NM_001871:exon7:c.G584A:p.R195H,	.	.	433	1075	14	0	0	14	0.0064695	.	.	3185057	not_provided|CPB1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.19	T	0.953	P	0.469	P	0.286	N	1.000	N	1.095	L	2.8	T	-1.047	T	0.019	T	0.287	1.304	10.27	3.98	1.457	2.452	10.128	0.061	.	0.0078	0.00399361	0.0092	0.0023	0.0042	0	0.0037	0.0144	0.0067	0.0032	0.009256	1431	154602	rs145346983	0.0098	0.0098	0.0100	0.0095	0.0189	0.0096	0.0096	0.0160	0.0150	0.0020	0.0049	0.0102	7.559e-05	0.0062	0.0189	0.0113	0.0080	0.0029	0.0074	0.0074	0.0076	0.0071	0.0117	0.0070	0.0069	0.0110	0.0108	0.0024	0.0044	0.0066	0.0081	0	0.0044	0.0238	0.0117	0.0090	0.0035	0.177	0.34621	T	0.195	0.36233	T	0.953	0.54283	P	0.469	0.46748	P	0.285761	0.14861	N	0.704595	1	0.08975	N	1.57	0.39626	L	2.8	0.11082	T	-1.05	0.36189	N	0.124	0.11626	-1.0470	0.15246	T	0.019	0.08126	T	10	0.007977992	0.00181	T	.	.	.	0.061	0.17616	.	.	0.476908202251	0.47319	0.7227306319833432	0.72217	0.474896107639	0.46669	0.34563690424	0.17278	T	0.030627	0.21663	T	-0.559001	0.00257	T	-0.562769	0.16117	T	0.0155491078151295	0.00353	T	0.746025	0.36642	T	0.08427297	0.19497	0.06251268	0.12243	0.08427297	0.19497	0.06251268	0.12242	-3.658	0.18700	T	.	.	0.104	0.19598	B	.;.;.	.;.;.	4.503074	0.70449	25.5	0.9900136409777327	0.50148	0.17718	0.19958	N	AEFI	0.320493	0.42358	N	-0.0196586563048347	0.40967	2.442081	-0.0468730179508484	0.37626	2.205591	1.15598487584629E-4	0.05269	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.78	3.98	0.45383	2.049000	0.40912	2.232000	0.31540	0.676000	0.76740	0.013000	0.18845	0.033000	0.21346	0.824000	0.38829	0.218:0.0:0.782:0.0	10.128	0.41837	521	0.74284	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase B, carboxypeptidase domain;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase B, carboxypeptidase domain;Peptidase M14, carboxypeptidase A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	827.98	37	chr3	148844485	.	G	A	827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=784;ExcessHet=0.0000;FS=1.878;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.63;ReadPosRankSum=-1.800e-01;SOR=0.953	GT:AD:DP:GQ:PL	0/1:51,35:86:99:842,0,1209	20	0	1	0
chr3	149780310	149780310	T	C	exonic	ANKUB1	.	nonsynonymous SNV	ANKUB1:NM_001144960:exon3:c.A380G:p.Y127C	.	.	428	1076	18	0	0	18	0.00829493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.99	D	0.694	P	0.037	N	0.627	N	1.15	L	1.62	T	-0.980	T	0.059	T	0.355	2.473	14.23	2.57	0.955	1.505	9.733	0.059	.	0.0096	0.00259585	0.0065	0.0028	0.0048	0	0.0074	0.0109	0.0164	0.0028	0.002238	346	154602	rs62622807	0.0092	0.0088	0.0093	0.0090	0.0104	0.0090	0.0090	0.0103	0.0102	0.0017	0.0051	0.0059	5.596e-05	0.0085	0.0028	0.0104	0.0079	0.0038	0.0071	0.0071	0.0075	0.0066	0.0110	0.0067	0.0066	0.0104	0.0101	0.0017	0.0164	0.0069	0.0061	0	0.0078	0.0034	0.0110	0.0076	0.0033	0.006	0.61437	D	0.003	0.76473	D	.	.	.	.	.	.	0.036746	0.24484	N	0.344622	0.626684	0.30734	N	1.845	0.48678	L	1.59	0.28836	T	-4.27	0.77308	D	0.535	0.60241	-0.9800	0.35002	T	0.059	0.24871	T	10	0.009616643	0.00217	T	.	.	.	0.059	0.16972	.	.	0.16115917748	0.15686	0.6313377433510485	0.63067	.	.	0.464682281017	0.33951	T	0.119024	0.44027	T	-0.479141	0.00748	T	-0.449998	0.27697	T	0.0280924054870064	0.01701	T	0.824917	0.49388	T	0.1765746	0.38577	0.19020109	0.42409	0.1765746	0.38577	0.19020109	0.42408	-6.139	0.48165	T	.	.	0.345	0.57261	A	.;.	.;.	4.040737	0.59821	24.1	0.99617837872995507	0.75233	0.65854	0.32878	D	AEFGBI	0.259308	0.37768	N	0.110943789790052	0.46974	2.929609	0.0792487679677218	0.43505	2.650986	0.999044745899756	0.38290	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.35	2.57	0.29928	1.470000	0.34963	5.183000	0.47871	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.678000	0.33484	0.4138:0.0:0.0:0.5862	9.733	0.39540	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	33	chr3	149780310	.	T	C	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.28;DP=789;ExcessHet=0.0000;FS=5.338;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=-7.330e-01;SOR=1.296	GT:AD:DP:GQ:PL	0/1:48,50:98:99:1420,0,1176	20	0	1	0
chr3	151447055	151447055	T	C	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001385061:exon5:c.A2926G:p.I976V	.	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.002	B	0.004	B	0.272	N	1.000	N	0	N	-0.25	T	-1.042	T	0.107	T	0.067	0.435	6.362	-0.31	-0.294	0.913	5.766	0.023	0.0189283022976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	5.038e-05	2.3e-07	9e-08	8.35e-06	3.12e-06	0	0	0	5.038e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.15770	T	0.374	0.16280	T	0.002	0.09854	B	0.004	0.10090	B	0.272479	0.15101	N	0.577006	1	0.08975	N	0	0.06538	N	-0.25	0.67011	T	0.24	0.04533	N	0.06	0.03175	-1.0425	0.16562	T	0.107	0.38955	T	10	0.044204533	0.03351	T	0.018928	0.41149	T	0.023	0.04649	0.211	0.12923	0.289474373501	0.28556	0.1223707893444032	0.12164	0.0206115458999	0.02030	0.239484012127	0.02744	T	4.13E-4	0.00135	T	-0.232447	0.16326	T	-0.57167	0.15296	T	0.141550481319427	0.16408	T	0.313269	0.06152	T	0.030888712	0.02832	0.030916944	0.01610	0.030888712	0.02831	0.030916944	0.01610	-3.336	0.14206	T	.	.	0.090	0.12512	B	.	.	0.680013	0.10487	7.201	0.276515095094792	0.01383	0.10650	0.16096	N	AEBI	0.122713	0.23798	N	-1.27651850434886	0.03960	0.1778595	-1.26723369852315	0.04880	0.2312981	0.779418275438989	0.23814	0.632932	0.41330	0	0.573888	0.26702	0	0.601832	0.32385	0	0.542086	0.14980	0	.	.	5.03	-0.31	0.12132	1.095000	0.30575	0.073000	0.14287	-0.236000	0.07595	0.136000	0.23442	0.000000	0.08366	0.032000	0.13371	0.0:0.1928:0.242:0.5653	5.766	0.17496	813	0.42397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2414.98	41	chr3	151447055	.	T	C	2414.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.638;DP=990;ExcessHet=0.0000;FS=7.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=-2.436e+00;SOR=1.174	GT:AD:DP:GQ:PL	0/1:125,93:218:99:2429,0,3354	20	0	1	0
chr3	154225872	154225872	C	T	exonic	ARHGEF26	.	nonsynonymous SNV	ARHGEF26:NM_001251962:exon11:c.C1952T:p.S651F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.997	D	0.000	D	1.000	D	3.005	M	-0.19	T	0.166	D	0.525	D	0.812	4.580	24.9	5.54	2.580	7.707	19.485	0.633	0.183099752464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.879e-07	6.84e-07	0	1.383e-06	2.544e-05	0	0	.	.	0	0	0	2.544e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	0.999	0.77913	D	0.997	0.86255	D	0.000001	0.62929	D	0.060094	1	0.81001	D	3.115	0.87836	M	-0.19	0.65931	T	-5.55	0.86222	D	0.815	0.85449	0.166	0.85335	D	0.525	0.82312	D	10	0.86479807	0.85717	D	0.183	0.85663	D	0.633	0.85924	0.483	0.56462	0.837653044268	0.83610	0.584576873811577	0.58387	0.444389301464	0.44348	0.796256542206	0.81393	T	0.395	0.75370	T	0.241025	0.77758	D	0.108439	0.77469	D	0.998419046401978	0.94084	D	0.961904	0.88706	D	0.7883239	0.83168	0.74892443	0.85159	0.7883239	0.83170	0.74892443	0.85160	-13.85	0.92560	D	.	.	0.996	0.96223	P	.;.;.	.;.;.	5.334446	0.89519	30	0.99800882374201971	0.88550	0.99001	0.89785	D	AEFBI	0.927146	0.90936	D	0.935908050485537	0.93406	12.01751	0.888429138375487	0.95047	13.26558	0.9999999999392	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.54	5.54	0.82907	7.794000	0.84430	7.574000	0.60786	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.485	0.95018	886	0.28090	.;.;.	.	.	.	.	.	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	1495.98	35	chr3	154225872	.	C	T	1495.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=816;ExcessHet=0.0000;FS=0.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.98;ReadPosRankSum=0.539;SOR=0.811	GT:AD:DP:GQ:PL	0/1:53,54:107:99:1510,0,1428	20	0	1	0
chr3	157381267	157381267	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1016G:p.S339C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.016	B	0.006	B	0.008	N	1.000	D	1.1	L	3.02	T	-1.085	T	0.025	T	0.19	1.903	12.32	5.47	2.569	1.889	10.655	0.047	0.00405651869442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.706e-05	0.0015	3.271e-05	2.14e-05	3.398e-05	2.012e-05	1.762e-05	2.487e-05	2.207e-05	3.089e-05	0	0	0	0	0	3.398e-05	1.71e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.094	0.39799	T	0.016	0.17332	B	0.006	0.12133	B	0.007582	0.31308	N	0.359250	0.787702	0.29261	N	1.43	0.35840	L	3.01	0.09075	T	-1.91	0.46337	N	0.318	0.36674	-1.0854	0.06335	T	0.025	0.10464	T	10	0.14302394	0.27159	T	0.004057	0.09681	T	0.047	0.12962	0.413	0.45052	0.203808441222	0.19973	0.21481885595038	0.21397	0.0389899136919	0.04147	0.438936650753	0.30431	T	0.149031	0.48786	T	-0.240838	0.15241	T	-0.583723	0.14213	T	0.213982076796247	0.21159	T	0.79972	0.44511	T	0.09153386	0.21449	0.07893088	0.17725	0.09153386	0.21449	0.07893088	0.17725	-7.287	0.56309	T	.	.	0.085	0.11269	B	.;.;.	.;.;.	3.162719	0.42862	21.6	0.91500678835389826	0.20774	0.88574	0.48565	D	AEFDBI	0.301950	0.41033	N	-0.0840343711138489	0.38093	2.225797	0.083874411417393	0.43736	2.669398	0.99938992129566	0.39415	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	1.981000	0.40250	9.905000	0.82381	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.848000	0.40082	0.0:0.1414:0.7122:0.1463	10.655	0.44865	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	6359.01	153	chr3	157381267	.	G	C	6359.01	.	AC=8;AF=0.250;AN=32;BaseQRankSum=-4.595e+00;DP=3537;ExcessHet=3.5521;FS=96.014;InbreedingCoeff=-0.3383;MLEAC=10;MLEAF=0.313;MQ=60.00;MQRankSum=0.00;QD=3.69;ReadPosRankSum=1.96;SOR=11.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,38:234:99:0|1:157381266_G_C:755,0,8021:157381266	8	0	8	5
chr3	157381269	157381269	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1014G:p.F338L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.986	D	0.716	P	0.000	D	1.000	D	1.78	L	2.87	T	-1.157	T	0.050	T	0.611	2.725	15.07	4.6	1.319	7.223	13.320	0.234	0.00696849747109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.197e-05	0.0013	1.98e-05	2.414e-05	2.814e-05	1.574e-05	1.372e-05	1.996e-05	1.733e-05	0	0	0	0	0	0	2.814e-05	1.703e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.075	0.43344	T	0.986	0.61523	D	0.716	0.54713	P	0.000000	0.84330	D	0.052188	0.999883	0.50402	D	1.79	0.46772	L	2.8	0.11082	T	-2.64	0.60827	D	0.629	0.64308	-1.1573	0.00823	T	0.050	0.21300	T	10	0.65501356	0.69822	D	0.006968	0.18458	T	0.234	0.53644	0.566	0.68768	0.380052290102	0.37618	0.540766503490007	0.54001	0.0497134926514	0.05451	0.693336129189	0.66186	T	0.39328	0.75273	T	-0.0694684	0.41412	T	-0.337563	0.40622	T	0.937143862247467	0.60670	D	0.890411	0.63503	D	0.3446262	0.56645	0.22055541	0.46835	0.3446262	0.56645	0.22055541	0.46834	-10.426	0.76421	D	.	.	0.981	0.91639	P	.;.;.	.;.;.	4.365249	0.67160	25.1	0.99181655721304818	0.54701	0.98496	0.83394	D	AEFDBI	0.895770	0.83615	D	0.298767961957114	0.56086	3.772896	0.29353445057777	0.55160	3.679457	0.999999819584022	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.6	0.56512	7.371000	0.78858	5.894000	0.50799	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0755:0.0:0.9245:0.0	13.320	0.59864	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2353	6222.97	159	chr3	157381269	.	G	C	6222.97	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-6.295e+00;DP=3622;ExcessHet=3.5521;FS=94.732;InbreedingCoeff=-0.3126;MLEAC=9;MLEAF=0.265;MQ=60.00;MQRankSum=0.00;QD=3.60;ReadPosRankSum=1.96;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,41:235:99:0|1:157381266_G_C:823,0,7983:157381266	9	0	8	4
chr3	157381272	157381276	GGTGT	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1007_1011del:p.D336Vfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	5793.21	203	chr3	157381271	.	AGGTGT	A,AT	5793.21	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-3.886e+00;DP=4123;ExcessHet=3.5521;FS=94.048;InbreedingCoeff=-0.2353;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=3.32;ReadPosRankSum=2.17;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:192,0,43:235:99:0|1:157381266_G_C:863,1441,9488,0,8047,7921:157381266	13	0	5	0
chr3	157381272	157381275	GGTG	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1008_1011del:p.T337Sfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	1.363e-06	2.754e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	5793.21	203	chr3	157381271	.	AGGTGT	A,AT	5793.21	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-3.886e+00;DP=4123;ExcessHet=3.5521;FS=94.048;InbreedingCoeff=-0.2353;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=3.32;ReadPosRankSum=2.17;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:192,0,43:235:99:0|1:157381266_G_C:863,1441,9488,0,8047,7921:157381266	13	0	5	0
chr3	157381275	157381275	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1191.7	160	chr3	157381275	.	G	*,GCCCC	1191.7	.	AC=3,3;AF=0.107,0.107;AN=28;BaseQRankSum=-1.117e+00;DP=3156;ExcessHet=1.7912;FS=101.214;InbreedingCoeff=-0.3105;MLEAC=4,4;MLEAF=0.143,0.143;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.952;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:184,0,43:227:99:0|1:157381266_G_C:888,1441,9166,0,7725,7599:157381266	8	0	3	7
chr3	157381275	157381275	-	CCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1007_1008insGGGG:p.D336Efs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1191.7	160	chr3	157381275	.	G	*,GCCCC	1191.7	.	AC=3,3;AF=0.107,0.107;AN=28;BaseQRankSum=-1.117e+00;DP=3156;ExcessHet=1.7912;FS=101.214;InbreedingCoeff=-0.3105;MLEAC=4,4;MLEAF=0.143,0.143;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.952;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:184,0,43:227:99:0|1:157381266_G_C:888,1441,9166,0,7725,7599:157381266	8	0	3	7
chr3	184306114	184306114	G	A	exonic	PSMD2	.	nonsynonymous SNV	PSMD2:NM_001278708:exon12:c.G1373A:p.R458H	.	.	413	1106	3	0	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.976	D	0.000	D	1.000	D	2.455	M	1.89	T	-0.884	T	0.191	T	0.92	5.867	36	6.0	2.855	9.371	20.495	0.469	0.0566363054021	7.7e-05	.	4.942e-05	0	8.637e-05	0	0	7.492e-05	0	0	5.17e-05	8	154602	rs370492527	5.404e-05	5.404e-05	5.173e-05	5.638e-05	6.956e-05	4.41e-05	4.082e-05	5.161e-05	4.738e-05	0	2.236e-05	0	0	0	0	6.385e-05	1.656e-05	6.956e-05	3.286e-05	3.283e-05	3.855e-05	2.69e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.094	0.41637	T	0.059	0.49390	T	0.998	0.73220	D	0.976	0.73562	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	1.88	0.23884	T	-2.2	0.49519	N	0.684	0.69474	-0.8844	0.49406	T	0.191	0.54301	T	10	0.672343	0.70787	D	0.056636	0.66676	D	0.469	0.76355	.	.	0.811863487749	0.81009	0.6537252452228763	0.65308	1.73630748658	0.90807	0.819635391235	0.84972	D	0.245519	0.61483	T	0.105433	0.64874	D	0.11727	0.78053	D	0.498622417449951	0.32579	T	0.974203	0.90777	D	0.32086882	0.54713	0.16856319	0.38825	0.32086882	0.54713	0.16856319	0.38824	-7.975	0.66648	D	.	.	0.329	0.60936	B	.;.;.	.;.;.	5.202127	0.87272	29.2	0.99932334987297422	0.99439	0.97881	0.77832	D	AEFBCI	0.961694	0.98302	D	0.889574296025712	0.91241	10.78418	0.89943426548446	0.95547	13.72789	0.999999999999827	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.0	6.0	0.97371	9.496000	0.96952	9.930000	0.82573	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.495	0.99210	775	0.48401	.;.;.	.	.	.	.	.	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	3716.98	33	chr3	184306114	.	G	A	3716.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.481e+00;DP=918;ExcessHet=0.0000;FS=3.591;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.36;ReadPosRankSum=-3.420e-01;SOR=0.876	GT:AD:DP:GQ:PL	0/1:101,141:242:99:3731,0,2617	20	0	1	0
chr3	184328723	184328723	A	G	exonic	EIF4G1	.	nonsynonymous SNV	EIF4G1:NM_004953:exon20:c.A3461G:p.Q1154R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.003	B	0.025	B	0.000	D	1.000	D	0.49	N	1.58	T	-1.054	T	0.036	T	0.31	1.886	12.26	2.92	0.952	2.747	4.217	0.069	0.00655465067624	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs765574482	1.231e-05	1.231e-05	8.167e-06	1.65e-05	9.275e-05	7.7e-06	6.35e-06	4.578e-05	3.272e-05	0	0	0	0	0	0	6.295e-06	4.967e-05	9.275e-05	1.314e-05	1.313e-05	0	2.691e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.286	0.15823	T	0.746	0.04877	T	0.001	0.07471	B	0.013	0.16460	B	0.000290	0.46274	D	0.229760	1	0.81001	D	0.805	0.20218	L	1.58	0.29085	T	-0.45	0.14782	N	0.11	0.15469	-1.0536	0.13413	T	0.036	0.15726	T	10	0.122048944	0.23146	T	0.006555	0.17272	T	0.069	0.20116	0.465	0.53566	0.362142726121	0.35819	0.415085171231659	0.41424	0.427668763586	0.43109	0.410621345043	0.26543	T	0.06084	0.31495	T	-0.221574	0.17779	T	-0.459198	0.26686	T	0.29082202911377	0.24624	T	0.79772	0.44184	T	0.12667994	0.29665	0.072110675	0.15518	0.12667994	0.29665	0.072110675	0.15518	-4.507	0.30980	T	.	.	0.061	0.04119	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	3.002863	0.40130	21.1	0.9784697186978607	0.36372	0.90266	0.51306	D	AEFDGBCI	0.675672	0.64097	D	-0.340746676252011	0.27613	1.516449	-0.148517385275505	0.33466	1.914577	0.999997214130452	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	2.92	0.32998	3.273000	0.51326	6.143000	0.54081	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.6709:0.1289:0.0756:0.1246	4.217	0.09995	911	0.21964	Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3;.;.;.;.;.;Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3;.;.;Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3;Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3;.;.	.	.	.	.	.	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	1792.98	41	chr3	184328723	.	A	G	1792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.927e+00;DP=982;ExcessHet=0.0000;FS=0.664;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=-5.820e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/1:53,72:125:99:1807,0,1392	20	0	1	0
chr3	184581383	184581383	G	C	exonic	EPHB3	.	nonsynonymous SNV	EPHB3:NM_004443:exon15:c.G2863C:p.D955H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.028	B	0.039	B	0.001	D	1.000	D	1.405	L	0.59	T	-0.908	T	0.135	T	0.278	1.758	11.84	4.23	2.309	6.528	12.411	0.140	0.03349267303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	6.543e-05	0	0	.	.	0	0	6.543e-05	0	0	0	0	0	0	0	0.035	0.43708	D	0.018	0.59732	D	0.028	0.19712	B	0.039	0.23607	B	0.000836	0.41547	D	0.218372	0.999998	0.81001	D	1.455	0.36767	L	0.59	0.53943	T	-3.28	0.65627	D	0.336	0.37717	-0.9080	0.47097	T	0.135	0.44991	T	10	0.2975844	0.47319	T	0.033493	0.55023	D	0.140	0.37593	0.61	0.74300	0.494737054661	0.49108	0.7224606370816556	0.72190	0.88970380947	0.70172	0.827126979828	0.86123	D	0.34654	0.71478	T	-0.0998896	0.36441	T	-0.381261	0.35573	T	0.956603169441223	0.64799	D	0.883212	0.60517	D	0.24393499	0.47337	0.28604928	0.54611	0.24393499	0.47337	0.28604928	0.54610	-8.962	0.67452	D	.	.	0.550	0.66790	A	.	.	4.185713	0.63049	24.5	0.98499815772854094	0.42204	0.98469	0.83105	D	AEFDGBI	0.763703	0.70072	D	0.0376009686659179	0.43572	2.647586	0.171608553668698	0.48298	3.047626	0.999999976730848	0.74766	0.549168	0.22868	0	0.610034	0.51514	0	0.590023	0.30420	0	0.562822	0.20929	0	.	.	4.23	4.23	0.49319	6.644000	0.74193	11.881000	0.98835	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.837000	0.39485	0.0:0.1698:0.8302:0.0	12.411	0.54802	513	0.74941	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif 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	3090.98	46	chr3	184581383	.	G	C	3090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=1128;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-1.439e+00;SOR=0.665	GT:AD:DP:GQ:PL	0/1:140,116:256:99:3105,0,3813	20	0	1	0
chr3	187251713	187251713	T	C	exonic	MASP1	.	nonsynonymous SNV	MASP1:NM_001031849:exon7:c.A932G:p.K311R	3MC syndrome 1, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.08	B	0.045	B	0.001	D	0.995	D	1.095	L	-0.13	T	-0.955	T	0.156	T	0.22	2.168	13.21	4.71	1.013	3.638	12.332	0.051	0.0189355565512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	0.10378	T	0.367	0.16619	T	0.001	0.24543	B	0.003	0.24526	B	0.000681	0.42516	D	0.269431	0.969216	0.42360	D	0.605	0.15622	N	-0.13	0.64818	T	-0.77	0.24676	N	0.196	0.29313	-0.9553	0.40042	T	0.156	0.48772	T	10	0.22169787	0.38901	T	0.018936	0.41162	T	0.051	0.14325	0.408	0.44230	0.692104265246	0.68945	0.2760759288569631	0.27520	0.09617487162	0.10851	0.46939688921	0.34597	T	0.072929	0.34574	T	-0.109428	0.34863	T	-0.394962	0.33971	T	0.592507719993591	0.36105	D	0.835616	0.50622	T	0.22806554	0.45519	0.101064116	0.24184	0.22806554	0.45519	0.101064116	0.24183	-3.946	0.31318	T	0.4187090048607781	0.50781	0.078	0.15115	B	.;.;.;.;.	.;.;.;.;.	2.535471	0.32792	19.15	0.99383363925917478	0.61979	0.93531	0.58471	D	AEFDBIJ	0.807283	0.73136	D	-0.243797094026076	0.31350	1.757067	-0.0516562535302869	0.37418	2.190638	0.999751806722253	0.42595	0.696267	0.57585	0	0.563428	0.19063	0	0.691665	0.62940	0	0.620846	0.47308	0	.	.	5.9	4.71	0.59010	3.625000	0.53979	5.109000	0.47498	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.1414:0.8586	12.332	0.54368	947	0.11584	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1116.98	33	chr3	187251713	.	T	C	1116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.100e-02;DP=791;ExcessHet=0.0000;FS=5.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=-3.810e-01;SOR=0.972	GT:AD:DP:GQ:PL	0/1:40,46:86:99:1131,0,946	20	0	1	0
chr3	189808420	189808420	C	T	exonic	TP63	.	nonsynonymous SNV	TP63:NM_001114980:exon2:c.C191T:p.A64V	ADULT syndrome, Autosomal dominant;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, Autosomal dominant;Hay-Wells syndrome, Autosomal dominant;Limb-mammary syndrome, Autosomal dominant;Orofacial cleft 8, Autosomal dominant;Rapp-Hodgkin syndrome, Autosomal dominant;Split-hand/foot malformation 4, Autosomal dominant	.	1	1515	6	0	0	6	0.00197628	.	.	1381315	TP63-Related_Spectrum_Disorders	MedGen:CN239305	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.958	D	0.699	P	0.000	D	1.000	D	0.895	L	-0.62	T	1.097	D	0.962	D	0.634	4.160	21.5	5.71	2.701	7.818	18.837	0.502	0.341569745041	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs767384779	5.472e-06	5.472e-06	5.445e-06	5.5e-06	0.0003	2.35e-06	1.7e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	4.496e-06	0	1.159e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.125	0.52492	T	0.153	0.52389	T	0.877	0.54977	P	0.447	0.54128	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.385	0.34509	L	-6.05	0.99651	D	-0.33	0.17624	N	0.783	0.80964	1.097	0.99529	D	0.962	0.98776	D	9	0.46449924	0.59487	T	0.34157	0.92029	D	0.502	0.78475	0.103	0.01643	0.769586968014	0.76747	0.4757759378880075	0.47496	0.660132741455	0.58851	0.896643042564	0.96058	D	0.368243	0.73317	T	0.232764	0.76980	D	0.160219	0.80821	D	0.367647923862448	0.27707	T	0.927007	0.90930	D	0.1006322	0.23764	0.13800938	0.32971	0.1006322	0.23764	0.13800938	0.32970	-6.5	0.63008	T	0.10412123833100943	0.08107	0.262	0.51094	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.853090	0.79340	27.1	0.99907876811144514	0.97801	0.98240	0.80839	D	AEFDGBI	0.930791	0.91862	D	0.390370722974065	0.60901	4.284204	0.449055174347416	0.64656	4.72585	0.999999999999971	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.563428	0.18855	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	7.905000	0.86479	7.696000	0.66036	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.266000	0.23669	0.0:1.0:0.0:0.0	18.837	0.92136	916	0.20744	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2365.98	42	chr3	189808420	.	C	T	2365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.560e-01;DP=909;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=1.25;SOR=0.666	GT:AD:DP:GQ:PL	0/1:87,92:179:99:2380,0,2257	20	0	1	0
chr3	195579418	195579418	A	G	exonic	APOD	.	nonsynonymous SNV	APOD:NM_001647:exon2:c.T44C:p.F15S,	.	.	407	1092	23	0	0	23	0.0104214	.	.	697996	not_provided|APOD-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.002	B	0.392	N	1.000	N	1.15	L	2.03	T	-1.029	T	0.027	T	0.633	1.845	12.13	1.61	0.434	1.338	7.376	0.191	0.0106765433329	0.0046	0.00139776	0.0042	0.0008	0.0042	0	0.0083	0.0058	0.0056	0.0005	0.0040556	627	154602	rs5952	0.0047	0.0047	0.0048	0.0046	0.0071	0.0046	0.0045	0.0054	0.0051	0.0007	0.0046	0.0007	0	0.0071	0.0071	0.0052	0.0044	0.0007	0.0042	0.0042	0.0040	0.0044	0.0063	0.0039	0.0038	0.0053	0.0051	0.0011	0.0044	0.0063	0.0020	0	0.0068	0.0102	0.0058	0.0066	0.0012	0.004	0.72154	D	0.248	0.23845	T	0.002	0.09854	B	0.002	0.06944	B	0.391946	0.13243	N	0.701798	1	0.08975	N	1.5	0.37844	L	2.03	0.20959	T	-1.66	0.44852	N	0.312	0.35194	-1.0289	0.20811	T	0.027	0.11707	T	10	0.0046077073	0.00096	T	0.010677	0.27493	T	0.191	0.46948	.	.	0.332386209738	0.32853	0.39952335144674217	0.39867	0.231353726995	0.25683	0.335872769356	0.15819	T	0.143503	0.47964	T	-0.392143	0.02606	T	-0.333867	0.41038	T	0.0362776724728635	0.03028	T	0.433257	0.15733	T	0.14031689	0.32379	0.15112346	0.35612	0.14031689	0.32378	0.15112346	0.35611	-4.849	0.35157	T	.	.	0.103	0.26978	B	.;.;.	.;.;.	1.724349	0.21947	15.42	0.96601951292706412	0.30409	0.04721	0.10415	N	AEFDBI	0.089882	0.18217	N	-0.778734682236333	0.13865	0.6862076	-0.791428063803516	0.14705	0.7697434	0.111814176163366	0.16668	0.623552	0.39893	0	0.610034	0.51514	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.68	1.61	0.22752	2.306000	0.43333	5.925000	0.51226	0.756000	0.94297	0.488000	0.26863	1.000000	0.68203	0.014000	0.10232	0.7035:0.0:0.2965:0.0	7.376	0.26004	835	0.38313	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	760.98	36	chr3	195579418	.	A	G	760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.260e-01;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=1.55;SOR=0.710	GT:AD:DP:GQ:PL	0/1:42,32:74:99:775,0,1085	20	0	1	0
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|1:16,2,0:18:25:0|1:195779447_C_G:25,0,543,73,549,622:195779447	12	0	2	1
chr3	195780043	195780043	G	0	exonic	MUC4	.	.	.	.	.	6	91	2	1	126	130	0.0215054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780043	.	G	A,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6744;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=57.07;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:22,0,118:140:99:0|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:4760,4827,5696,0,868,483:195780016	5	0	1	7
chr3	195780046	195780046	A	0	exonic	MUC4	.	.	.	.	.	13	85	2	1	125	129	0.0229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780046	.	A	C,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6719;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=56.80;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:22,0,118:140:99:0|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:4760,4827,5696,0,868,483:195780016	5	0	1	7
chr3	195780069	195780069	G	0	exonic	MUC4	.	.	.	.	.	10	98	2	0	116	118	0.010101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3462	2997.68	313	chr3	195780069	.	G	C,*	2997.68	.	AC=1,8;AF=0.038,0.308;AN=26;DP=6315;ExcessHet=0.1204;FS=0.000;InbreedingCoeff=0.0503;MLEAC=1,11;MLEAF=0.038,0.423;MQ=56.31;QD=1.57;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:22,0,118:140:99:0|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:4760,4827,5696,0,868,483:195780016	6	0	1	8
chr3	195780075	195780075	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	1468.72	313	chr3	195780075	.	T	G,*	1468.72	.	AC=1,8;AF=0.029,0.235;AN=34;DP=6273;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.1606;MLEAC=1,9;MLEAF=0.029,0.265;MQ=56.27;QD=0.77;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:22,0,118:140:99:0|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:4760,4827,5696,0,868,483:195780016	10	0	1	4
chr3	195780092	195780092	C	0	exonic	MUC4	.	.	.	.	.	13	97	2	0	114	116	0.0102041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3139.55	313	chr3	195780092	.	C	T,*	3139.55	.	AC=1,7;AF=0.042,0.292;AN=24;DP=6174;ExcessHet=0.0419;FS=4.756;InbreedingCoeff=0.0684;MLEAC=1,10;MLEAF=0.042,0.417;MQ=55.82;QD=2.32;SOR=0.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:22,0,118:140:99:0|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:4760,4827,5696,0,868,483:195780016	6	0	1	9
chr3	195780494	195780494	G	0	exonic	MUC4	.	.	.	.	.	694	424	90	25	289	429	0.1417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5548.65	401	chr3	195780494	.	G	*,A	5548.65	.	AC=7,1;AF=0.350,0.050;AN=20;BaseQRankSum=5.01;DP=8569;ExcessHet=1.8394;FS=1.262;InbreedingCoeff=0.0278;MLEAC=12,2;MLEAF=0.600,0.100;MQ=54.69;MQRankSum=-3.824e+00;QD=1.83;ReadPosRankSum=9.34;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:6,369,0:375:99:1|1:195780492_AGGGGTGGCCT_A:15504,979,0,15521,1113,15654:195780492	3	1	5	11
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	55203.73	406	chr3	195780499	.	G	A,*	55203.73	.	AC=12,7;AF=0.300,0.175;AN=40;BaseQRankSum=-3.310e-01;DP=8546;ExcessHet=0.5442;FS=0.529;InbreedingCoeff=0.0726;MLEAC=12,7;MLEAF=0.300,0.175;MQ=54.22;MQRankSum=-2.440e-01;QD=9.13;ReadPosRankSum=-4.044e+00;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:6,0,369:375:99:1|1:195780492_AGGGGTGGCCT_A:15504,15521,15654,979,1113,0:195780492	6	1	7	1
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	51505.37	393	chr3	195780501	.	C	*,G	51505.37	.	AC=7,10;AF=0.233,0.333;AN=30;BaseQRankSum=-5.880e-01;DP=8384;ExcessHet=0.9330;FS=0.000;InbreedingCoeff=0.1350;MLEAC=9,13;MLEAF=0.300,0.433;MQ=54.00;MQRankSum=-3.340e-01;QD=9.32;ReadPosRankSum=-1.345e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,367,4:373:99:.:.:16343,1046,0,15512,982,15411	3	1	2	6
chr3	195780510	195780510	G	0	exonic	MUC4	.	.	.	.	.	1	126	41	1	57	100	0.145763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	36875.28	349	chr3	195780510	.	G	A,*	36875.28	.	AC=9,5;AF=0.265,0.147;AN=34;BaseQRankSum=0.680;DP=8180;ExcessHet=0.1645;FS=1.137;InbreedingCoeff=0.2695;MLEAC=11,6;MLEAF=0.324,0.176;MQ=53.29;MQRankSum=3.36;QD=8.07;ReadPosRankSum=-2.570e+00;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:75,0,372:447:99:0|1:195780492_AGGGGTGGCCT_A:14432,14655,17610,0,2955,1843:195780492	7	2	3	4
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	22106.14	349	chr3	195780514	.	G	*,A	22106.14	.	AC=7,7;AF=0.233,0.233;AN=30;BaseQRankSum=0.605;DP=8615;ExcessHet=0.3357;FS=1.883;InbreedingCoeff=0.2178;MLEAC=9,9;MLEAF=0.300,0.300;MQ=53.69;MQRankSum=2.63;QD=4.78;ReadPosRankSum=-2.700e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,372,0:447:99:0|1:195780492_AGGGGTGGCCT_A:14432,0,1843,14655,2955,17610:195780492	5	1	3	6
chr3	195780525	195780527	GTC	0	exonic	MUC4	.	.	.	.	.	583	681	21	3	234	261	0.0194384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	5946.85	349	chr3	195780525	.	GTC	*,G	5946.85	.	AC=9,2;AF=0.321,0.071;AN=28;BaseQRankSum=-5.320e-01;DP=7947;ExcessHet=0.0073;FS=2.130;InbreedingCoeff=0.4634;MLEAC=13,3;MLEAF=0.464,0.107;MQ=52.96;MQRankSum=5.01;QD=1.90;ReadPosRankSum=1.98;SOR=0.532	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,372,0:447:99:0|1:195780492_AGGGGTGGCCT_A:14432,0,1843,14655,2955,17610:195780492	7	3	3	7
chr3	195780526	195780529	TCCG	0	exonic	MUC4	.	.	.	.	.	603	642	21	1	255	278	0.0175976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	5700.23	349	chr3	195780526	.	TCCG	*,T	5700.23	.	AC=11,1;AF=0.423,0.038;AN=26;BaseQRankSum=2.59;DP=7969;ExcessHet=0.0661;FS=2.096;InbreedingCoeff=0.3651;MLEAC=16,1;MLEAF=0.615,0.038;MQ=52.99;MQRankSum=5.89;QD=1.65;ReadPosRankSum=2.36;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,372,0:447:99:0|1:195780492_AGGGGTGGCCT_A:14432,0,1843,14655,2955,17610:195780492	5	4	3	8
chr3	195780530	195780623	TGACAGGAAGACGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGCGTC	0	exonic	MUC4	.	.	.	.	.	570	703	20	0	229	249	0.0140252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	5271.15	349	chr3	195780530	.	TGACAGGAAGACGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGCGTC	T,*	5271.15	.	AC=1,3;AF=0.056,0.167;AN=18;BaseQRankSum=3.31;DP=7644;ExcessHet=1.8123;FS=1.101;InbreedingCoeff=0.1822;MLEAC=2,6;MLEAF=0.111,0.333;MQ=52.75;MQRankSum=-3.954e+00;QD=2.95;ReadPosRankSum=-3.480e+00;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:75,0,372:447:99:0|1:195780492_AGGGGTGGCCT_A:14432,14655,17610,0,2955,1843:195780492	5	0	1	12
chr3	195780562	195780562	G	0	exonic	MUC4	.	.	.	.	.	634	632	242	5	9	261	0.166227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	950.16	349	chr3	195780562	.	G	*,A	950.16	.	AC=4,1;AF=0.250,0.063;AN=16;BaseQRankSum=-1.598e+00;DP=7247;ExcessHet=2.8389;FS=0.524;InbreedingCoeff=0.0278;MLEAC=8,2;MLEAF=0.500,0.125;MQ=52.35;MQRankSum=5.43;QD=0.47;ReadPosRankSum=4.24;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,372,0:447:99:0|1:195780492_AGGGGTGGCCT_A:14432,0,1843,14655,2955,17610:195780492	3	0	4	13
chr3	195780575	195780575	C	0	exonic	MUC4	.	.	.	.	.	839	407	22	0	254	276	0.0263158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	12264.56	349	chr3	195780575	.	C	*,T	12264.56	.	AC=6,1;AF=0.300,0.050;AN=20;BaseQRankSum=0.071;DP=7349;ExcessHet=6.0611;FS=0.558;InbreedingCoeff=-0.0832;MLEAC=10,2;MLEAF=0.500,0.100;MQ=51.21;MQRankSum=8.32;QD=3.68;ReadPosRankSum=3.24;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,369,4:413:99:.:.:14401,0,777,14492,1103,15530	3	0	6	11
chr3	195780604	195780604	G	0	exonic	MUC4	.	.	.	.	.	455	714	336	0	17	353	0.190476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	49349.11	404	chr3	195780604	.	G	C,*	49349.11	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=1.02;DP=8148;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.5385;MLEAC=13,1;MLEAF=0.361,0.028;MQ=49.37;MQRankSum=2.50;QD=8.15;ReadPosRankSum=-1.380e-01;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:299,138,0:437:99:.:.:3197,0,9906,4095,10316,14411	5	0	12	3
chr3	195780620	195780620	C	0	exonic	MUC4	.	.	.	.	.	808	314	377	7	16	407	0.38371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	185617.17	454	chr3	195780620	.	C	T,*	185617.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.26;DP=8709;ExcessHet=23.1855;FS=1.891;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.79;MQRankSum=6.09;QD=25.34;ReadPosRankSum=-4.997e+00;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,400,0:487:99:0|1:195780492_AGGGGTGGCCT_A:15909,0,2307,16170,3500,19670:195780492	3	0	14	3
chr3	195780623	195780623	C	0	exonic	MUC4	.	.	.	.	.	801	322	379	4	16	403	0.375364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	180902.17	451	chr3	195780623	.	C	T,*	180902.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.87;DP=8655;ExcessHet=23.1855;FS=2.624;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.54;MQRankSum=5.61;QD=25.01;ReadPosRankSum=-4.462e+00;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,394,0:481:99:0|1:195780492_AGGGGTGGCCT_A:15778,0,2307,16039,3500,19540:195780492	3	0	14	3
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|1:265,85,0:350:99:0|1:195781128_A_T:2675,0,10783,2875,11037,13814:195781128	6	0	13	1
chr3	195781149	195781154	GCTGGT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.10426_10431del:p.T3476_S3477del	.	.	429	865	216	1	11	229	0.11191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0145	0	0	0.0029	0	0	0	0.0351	3.84e-05	1	26028	.	0.0025	0.0021	0.0015	0.0035	0.0389	0.0024	0.0023	0.0375	0.0369	0.0001	4.844e-05	0	7.76e-05	5.404e-05	0.0012	0.0002	0.0034	0.0389	0.0031	0.0027	0.0012	0.0050	0.0817	0.0026	0.0025	0.0699	0.0654	0.0003	0	0	0	0	0	0	0.0002	0.0017	0.0817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	3997.56	481	chr3	195781148	.	GGCTGGT	G,*	3997.56	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=5.06;DP=8191;ExcessHet=12.7758;FS=8.141;InbreedingCoeff=-0.5094;MLEAC=1,13;MLEAF=0.026,0.342;MQ=56.16;MQRankSum=-1.509e+01;QD=0.72;ReadPosRankSum=-2.317e+00;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:262,0,61:323:99:0|1:195781128_A_T:1773,2384,13357,0,11001,10818:195781128	6	0	1	2
chr3	195781148	195781154	GGCTGGT	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	3997.56	481	chr3	195781148	.	GGCTGGT	G,*	3997.56	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=5.06;DP=8191;ExcessHet=12.7758;FS=8.141;InbreedingCoeff=-0.5094;MLEAC=1,13;MLEAF=0.026,0.342;MQ=56.16;MQRankSum=-1.509e+01;QD=0.72;ReadPosRankSum=-2.317e+00;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:262,0,61:323:99:0|1:195781128_A_T:1773,2384,13357,0,11001,10818:195781128	6	0	1	2
chr3	195781150	195781150	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	17655.6	472	chr3	195781150	.	C	CAT,*	17655.6	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=6.87;DP=8110;ExcessHet=11.8493;FS=8.427;InbreedingCoeff=-0.4911;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.14;MQRankSum=-1.618e+01;QD=3.26;ReadPosRankSum=-2.268e+00;SOR=1.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:257,55,0:312:99:0|1:195781128_A_T:1536,0,10626,2249,10791,13030:195781128	7	0	12	1
chr3	195781237	195781237	G	0	exonic	MUC4	.	.	.	.	.	457	758	281	0	26	307	0.156372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	57049.74	510	chr3	195781237	.	G	GAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCTA,*	57049.74	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-8.550e-01;DP=9994;ExcessHet=6.1794;FS=2.732;InbreedingCoeff=-0.3292;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.80;MQRankSum=-1.148e+01;QD=9.95;ReadPosRankSum=-6.049e+00;SOR=0.922	GT:AD:DP:GQ:PL	0/1:194,28,0:222:99:4534,0,7312,5194,7786,13757	7	0	12	1
chr3	195781535	195781582	CGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.9998_10045del:p.S3333_D3349delinsN	.	.	432	1084	3	0	3	6	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0005	0	0.0037	0	0.0017	0	0.0003	.	.	.	rs773375978	4.072e-05	0.0059	4.243e-05	3.896e-05	0.0003	3.176e-05	2.88e-05	2.611e-05	2.317e-05	0	3.061e-05	0.0002	9.239e-05	0.0001	0.0003	3.566e-05	5.609e-05	0	0.0005	0.0035	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	0.0002	0	0.0008	0.0009	0.0015	0.0006	0	0.0005	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	5407.27	461	chr3	195781534	.	TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	T	5407.27	.	AC=5;AF=0.125;AN=40;BaseQRankSum=3.69;DP=9800;ExcessHet=1.2264;FS=4.369;InbreedingCoeff=-0.1429;MLEAC=5;MLEAF=0.125;MQ=56.16;MQRankSum=-7.992e+00;QD=1.81;ReadPosRankSum=-4.233e+00;SOR=1.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:473,67:540:99:0|1:195781522_A_G:1249,0,19262:195781522	15	0	5	1
chr3	195781543	195781543	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10037T:p.P3346L	.	.	434	1074	8	0	6	14	0.00371058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.972	D	.	.	0.977	N	0.55	N	1.53	T	-1.037	T	0.086	T	0.191	0.535	6.897	1.03	0.494	0.798	7.588	0.036	.	.	0.00698882	0.0008	0	0	0	0	0.0008	0	0.0012	0.0013447	35	26028	rs879761890	4.884e-05	0.0007	4.984e-05	4.781e-05	0.0004	3.831e-05	3.503e-05	0.0002	0.0002	0.0002	0	0.0001	0.0004	0	0	2.839e-05	0.0002	4.234e-05	0.0002	0.0010	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	0.0003	0.0011	0.0001	0.0009	0	0	0	0.0002	0	0.0002	0.665	0.31383	T	0.122	0.35840	T	.	.	.	.	.	.	.	.	.	.	1	0.25345	N	.	.	.	1.47	0.31987	T	-1.13	0.29933	N	0.131	0.12627	-1.0370	0.18233	T	0.086	0.33522	T	8	0.0051679015	0.00112	T	.	.	.	0.036	0.09122	.	.	0.218845423259	0.21516	0.0020738489350019015	0.00192	.	.	0.483528077602	0.36542	T	.	.	.	-0.243883	0.14857	T	-0.588097	0.13831	T	0.0705799747923548	0.08732	T	0.69863	0.30863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17657	B	.;.	.;.	1.897897	0.24102	16.27	0.74117152090629812	0.10576	0.00893	0.03509	N	AEFBI	0.071891	0.14328	N	-0.569821765808249	0.19867	1.043086	-0.822359589483566	0.13954	0.726643	3.68951057704334E-5	0.03775	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	1.03	0.19161	0.680000	0.24986	0.730000	0.21079	0.093000	0.17603	0.024000	0.20007	0.004000	0.18990	0.012000	0.09680	0.0:0.0:1.0:0.0	7.588	0.27174	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1579	471.15	461	chr3	195781543	.	G	A,*	471.15	.	AC=1,5;AF=0.026,0.132;AN=38;BaseQRankSum=4.39;DP=9702;ExcessHet=1.8958;FS=7.620;InbreedingCoeff=-0.1940;MLEAC=1,5;MLEAF=0.026,0.132;MQ=59.22;MQRankSum=-1.633e+01;QD=0.13;ReadPosRankSum=-4.132e+00;SOR=1.560	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:473,0,67:540:99:0|1:195781522_A_G:1249,2670,22133,0,19463,19262:195781522	13	0	1	2
chr3	195781543	195781543	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	471.15	461	chr3	195781543	.	G	A,*	471.15	.	AC=1,5;AF=0.026,0.132;AN=38;BaseQRankSum=4.39;DP=9702;ExcessHet=1.8958;FS=7.620;InbreedingCoeff=-0.1940;MLEAC=1,5;MLEAF=0.026,0.132;MQ=59.22;MQRankSum=-1.633e+01;QD=0.13;ReadPosRankSum=-4.132e+00;SOR=1.560	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:473,0,67:540:99:0|1:195781522_A_G:1249,2670,22133,0,19463,19262:195781522	13	0	1	2
chr3	195781545	195781545	C	0	exonic	MUC4	.	.	.	.	.	447	984	72	8	11	99	0.0428016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	214.85	461	chr3	195781545	.	C	*,A	214.85	.	AC=5,2;AF=0.132,0.053;AN=38;BaseQRankSum=0.229;DP=9525;ExcessHet=2.7391;FS=7.747;InbreedingCoeff=-0.2163;MLEAC=5,1;MLEAF=0.132,0.026;MQ=58.15;MQRankSum=-1.237e+01;QD=0.06;ReadPosRankSum=-2.465e+00;SOR=1.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:473,67,0:540:99:0|1:195781522_A_G:1249,0,19262,2670,19463,22133:195781522	12	0	5	2
chr3	195781547	195781547	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	199.21	461	chr3	195781547	.	C	G,*	199.21	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-4.040e-01;DP=9369;ExcessHet=2.7391;FS=9.360;InbreedingCoeff=-0.2500;MLEAC=2,6;MLEAF=0.056,0.167;MQ=57.24;MQRankSum=-1.314e+01;QD=0.06;ReadPosRankSum=-4.481e+00;SOR=1.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:473,0,67:540:99:0|1:195781522_A_G:1249,2670,22133,0,19463,19262:195781522	11	0	2	3
chr3	195781570	195781666	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	441	758	314	1	8	324	0.172489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	16107.51	556	chr3	195781570	.	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	G,*	16107.51	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=2.83;DP=10262;ExcessHet=5.0857;FS=9.641;InbreedingCoeff=-0.3187;MLEAC=12,2;MLEAF=0.333,0.056;MQ=55.78;MQRankSum=-1.803e+00;QD=2.85;ReadPosRankSum=-4.685e+00;SOR=1.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:226,70,63:359:99:.:.:2241,0,9201,523,6881,12155	6	0	10	3
chr3	195781578	195781579	AG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	3970.88	556	chr3	195781578	.	AG	A,*	3970.88	.	AC=1,10;AF=0.031,0.313;AN=32;BaseQRankSum=3.87;DP=10171;ExcessHet=8.9063;FS=8.836;InbreedingCoeff=-0.4349;MLEAC=1,12;MLEAF=0.031,0.375;MQ=55.69;MQRankSum=-5.260e-01;QD=0.73;ReadPosRankSum=-6.913e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:226,0,70:359:99:.:.:2241,3119,13654,0,9544,9201	5	0	1	5
chr3	195781580	195781580	G	0	exonic	MUC4	.	.	.	.	.	463	722	319	1	17	338	0.18187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	4520.74	556	chr3	195781580	.	G	*,C	4520.74	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=0.179;DP=9815;ExcessHet=5.0857;FS=8.513;InbreedingCoeff=-0.3187;MLEAC=13,1;MLEAF=0.361,0.028;MQ=56.01;MQRankSum=-2.278e+00;QD=0.86;ReadPosRankSum=-1.693e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:226,70,0:359:99:.:.:2241,0,9201,3119,9544,13654	6	1	10	3
chr3	195781580	195781580	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10000G:p.P3334A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	B	0.02	B	.	.	1.000	N	0	N	1.6	T	-1.029	T	0.025	T	0.055	-2.642	0	-0.846	-1.978	-4.124	.	0.002	0.00306801804481	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201933946	2.584e-05	3.087e-05	2.108e-05	3.081e-05	0.0009	1.477e-05	1.088e-05	0.0002	0.0001	0	0	0	0.0009	0	0	1.631e-05	5.502e-05	7.572e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.39	0.10838	T	0.225	0.25670	T	.	.	.	.	.	.	.	.	.	.	1	0.20745	N	.	.	.	1.6	0.29085	T	-0.92	0.25332	N	0.04	0.03613	-1.0294	0.20649	T	0.025	0.10866	T	7	0.049262732	0.04492	T	0.003068	0.06636	T	0.002	0.00045	0.155	0.05858	0.0138822411134	0.00435	7.891078168164878E-4	0.00072	.	.	0.422586500645	0.28193	T	.	.	.	-0.383899	0.02944	T	-0.789221	0.02186	T	0.0408006180140352	0.03836	T	0.581242	0.21054	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.01215	B	.;.	.;.	0.478526	0.08482	5.240	0.48788944872141277	0.04100	0.00070	0.00494	N	AEFBI	0.046739	0.07794	N	-1.9141490975778	0.00321	0.01379166	-2.02320338169732	0.00274	0.01206826	9.80237534810795E-4	0.08079	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.423	-0.846	0.10190	-0.579000	0.05927	-4.712000	0.02021	-2.820000	0.00180	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	4520.74	556	chr3	195781580	.	G	*,C	4520.74	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=0.179;DP=9815;ExcessHet=5.0857;FS=8.513;InbreedingCoeff=-0.3187;MLEAC=13,1;MLEAF=0.361,0.028;MQ=56.01;MQRankSum=-2.278e+00;QD=0.86;ReadPosRankSum=-1.693e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:226,70,0:359:99:.:.:2241,0,9201,3119,9544,13654	6	1	10	3
chr3	195781581	195781581	G	0	exonic	MUC4	.	.	.	.	.	457	734	318	1	12	332	0.178971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3967.27	556	chr3	195781581	.	G	T,*	3967.27	.	AC=1,9;AF=0.033,0.300;AN=30;BaseQRankSum=4.80;DP=9779;ExcessHet=6.9875;FS=11.398;InbreedingCoeff=-0.4055;MLEAC=1,11;MLEAF=0.033,0.367;MQ=55.48;MQRankSum=-3.960e-01;QD=0.82;ReadPosRankSum=-7.208e+00;SOR=1.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:226,0,70:359:99:.:.:2241,3119,13654,0,9544,9201	5	0	1	6
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	0/1:226,70,0,0:359:99:.:.:2241,0,9201,3119,9544,13654,3119,9544,13654,13654	5	0	7	6
chr3	195781591	195781591	T	0	exonic	MUC4	.	.	.	.	.	449	750	25	2	296	325	0.0189666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	3997.07	404	chr3	195781591	.	T	*,G,A	3997.07	.	AC=10,2,1;AF=0.294,0.059,0.029;AN=34;BaseQRankSum=2.81;DP=8640;ExcessHet=5.0857;FS=10.247;InbreedingCoeff=-0.3523;MLEAC=11,2,1;MLEAF=0.324,0.059,0.029;MQ=55.21;MQRankSum=-4.300e+00;QD=0.78;ReadPosRankSum=-4.302e+00;SOR=1.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,70,53,0:320:99:0|1:195781522_A_G:2298,0,8160,728,6100,9113,2932,8349,9163,11372:195781522	5	0	9	4
chr3	195781605	195781605	G	0	exonic	MUC4	.	.	.	.	.	455	789	2	0	276	278	0.00126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	635.74	381	chr3	195781605	.	G	*,C	635.74	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=5.00;DP=8538;ExcessHet=2.5338;FS=10.499;InbreedingCoeff=-0.2218;MLEAC=12,1;MLEAF=0.353,0.029;MQ=54.42;MQRankSum=-3.177e+00;QD=0.16;ReadPosRankSum=-4.833e+00;SOR=1.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,70,35:290:99:0|1:195781522_A_G:2333,0,7586,1450,6210,9308:195781522	7	0	9	4
chr3	195781605	195781605	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9975G:p.H3325Q,	.	.	455	789	2	0	276	278	0.00126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	B	0.0	B	.	.	1.000	N	0	N	1.64	T	-0.994	T	0.028	T	0.045	0.133	4.714	-1.18	0.494	-0.453	3.491	0.026	0.000701924505054	.	.	0.0038	0.0092	0.0027	0.0065	0.0074	0.0033	0.0060	0.0021	0.0005757	89	154602	rs368202391	0.0002	0.0009	0.0002	0.0002	0.0019	0.0002	0.0002	0.0012	0.0009	0.0005	0.0002	0.0001	0.0019	0.0010	0.0008	0.0002	0.0002	0.0007	0.0015	0.0080	0.0013	0.0018	0.0040	0.0013	0.0013	0.0022	0.0017	0.0008	0	0.0024	0.0027	0.0040	0.0035	0	0.0012	0.0025	0.0038	0.359	0.11957	T	0.549	0.09457	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.64	0.28002	T	-0.58	0.20358	N	0.126	0.14054	-0.9936	0.31670	T	0.028	0.12103	T	8	0.0067867637	0.00154	T	7.02E-4	0.00435	T	0.026	0.05648	0.259	0.20159	0.0138822411134	0.00435	0.0013358041139753607	0.00123	.	.	0.487636059523	0.37111	T	.	.	.	-0.38784	0.02778	T	-0.794882	0.02034	T	0.00525087148980338	0.00057	T	0.549445	0.18903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24566	B	.;.	.;.	0.541304	0.09098	5.882	0.71700136203587272	0.09718	0.00069	0.00489	N	AEFBI	0.058666	0.11023	N	-1.28472862471283	0.03858	0.1731374	-1.36847136025834	0.03593	0.1679022	1.34692826708022E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	-1.18	0.09122	-0.199000	0.09493	-3.178000	0.02995	-1.076000	0.01581	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.5572:0.4428	3.491	0.07201	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	635.74	381	chr3	195781605	.	G	*,C	635.74	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=5.00;DP=8538;ExcessHet=2.5338;FS=10.499;InbreedingCoeff=-0.2218;MLEAC=12,1;MLEAF=0.353,0.029;MQ=54.42;MQRankSum=-3.177e+00;QD=0.16;ReadPosRankSum=-4.833e+00;SOR=1.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,70,35:290:99:0|1:195781522_A_G:2333,0,7586,1450,6210,9308:195781522	7	0	9	4
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	64803.77	402	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*,G	64803.77	.	AC=5,12;AF=0.147,0.353;AN=34;BaseQRankSum=0.785;DP=8138;ExcessHet=1.0760;FS=0.000;InbreedingCoeff=-0.0359;MLEAC=6,14;MLEAF=0.176,0.412;MQ=54.52;MQRankSum=-7.229e+00;QD=12.85;ReadPosRankSum=0.031;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:21,70,147:238:99:.:.:8205,5158,6651,2026,0,2401	4	0	1	4
chr3	195781620	195781620	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	317.18	402	chr3	195781620	.	T	*,C	317.18	.	AC=15,3;AF=0.441,0.088;AN=34;BaseQRankSum=0.368;DP=7754;ExcessHet=0.4630;FS=2.515;InbreedingCoeff=0.0667;MLEAC=17,3;MLEAF=0.500,0.088;MQ=54.29;MQRankSum=-9.995e+00;QD=0.07;ReadPosRankSum=-1.613e+00;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,225,18:243:45:0|1:195781522_A_G:9890,723,45,9179,0,9813:195781522	4	2	8	4
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	2|2:0,10,225:235:99:1|1:195781522_A_G:9836,9429,9633,674,258,0:195781522	0	3	3	1
chr3	195781789	195781789	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9791G:p.S3264C	.	.	.	.	.	.	.	.	.	.	.	2825223	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.994	D	0.962	D	.	.	1.000	N	0.345	N	1.35	T	-1.046	T	0.089	T	0.101	0.205	5.105	1.03	0.494	0.294	5.394	0.028	.	.	.	0.0028	0.0335	0.0047	0	0	0.0003	0	0.0002	.	.	.	rs1260213383	0.0004	0.0009	0.0004	0.0003	0.0075	0.0003	0.0003	0.0066	0.0062	0.0075	0.0006	0.0003	9.515e-05	0	0.0026	0.0001	0.0009	1.93e-05	0.0011	0.0056	0.0013	0.0010	0.0037	0.0010	0.0009	0.0031	0.0028	0.0037	0	0.0008	0.0006	0	0	0	0.0001	0.0018	0	0.036	0.43393	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	1.35	0.35960	T	-0.52	0.20358	N	0.058	0.03392	-1.0464	0.15418	T	0.089	0.34325	T	8	0.0056270957	0.00125	T	.	.	.	0.028	0.06331	0.229	0.15556	0.0297737177859	0.01360	0.001013548136499485	0.00093	.	.	0.469768941402	0.34648	T	.	.	.	-0.293953	0.09243	T	-0.660019	0.08265	T	0.0111137903727331	0.00162	T	0.822818	0.48291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.45918	B	.;.	.;.	1.908544	0.24238	16.32	0.59381222538087186	0.06211	0.00993	0.03770	N	AEFBI	0.089943	0.18228	N	-0.609396956545462	0.18661	0.9706224	-0.852740611599318	0.13221	0.6847116	1.65442328437548E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	1.03	0.19161	-0.438000	0.06975	0.729000	0.21072	0.093000	0.17603	0.000000	0.06391	0.001000	0.17328	0.005000	0.06747	0.0:0.0:1.0:0.0	5.394	0.15560	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:53,0,105:158:99:.:.:2873,3033,5203,0,2170,1911	6	0	1	1
chr3	195781789	195781789	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:53,0,105:158:99:.:.:2873,3033,5203,0,2170,1911	6	0	1	1
chr3	195781790	195781790	A	0	exonic	MUC4	.	.	.	.	.	585	525	41	5	366	417	0.0463215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	155.03	235	chr3	195781790	.	A	G,*	155.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=-5.110e-01;DP=3742;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-5.390e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:53,0,105:158:99:.:.:2873,3033,5203,0,2170,1911	5	0	1	2
chr3	195781809	195781809	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	98.03	235	chr3	195781809	.	T	A,*	98.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=1.65;DP=3716;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=39.50;MQRankSum=-7.910e-01;QD=0.03;ReadPosRankSum=-1.770e+00;SOR=0.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:53,0,105:158:99:.:.:2873,3033,5203,0,2170,1911	5	0	1	2
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1756.67	235	chr3	195781829	.	C	T,*	1756.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-5.383e+00;DP=3592;ExcessHet=15.6281;FS=2.445;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=41.70;MQRankSum=-4.776e+00;QD=0.57;ReadPosRankSum=1.90;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:53,0,105:158:99:.:.:2873,3033,5203,0,2170,1911	6	0	1	1
chr3	195783008	195783008	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8929.47	518	chr3	195783008	.	A	G,*	8929.47	.	AC=3,5;AF=0.107,0.179;AN=28;BaseQRankSum=-9.100e-01;DP=10671;ExcessHet=3.7745;FS=0.000;InbreedingCoeff=-0.3793;MLEAC=4,6;MLEAF=0.143,0.214;MQ=56.37;MQRankSum=-4.251e+00;QD=2.12;ReadPosRankSum=0.842;SOR=0.660	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,153,0:240:99:0|1:195783008_A_G:5899,0,3162,6161,3622,9783:195783008	6	0	3	7
chr3	195783009	195783009	C	0	exonic	MUC4	.	.	.	.	.	474	974	47	0	27	74	0.0235589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8931.46	521	chr3	195783009	.	C	*,T	8931.46	.	AC=5,3;AF=0.179,0.107;AN=28;BaseQRankSum=-4.990e-01;DP=10668;ExcessHet=3.7745;FS=0.000;InbreedingCoeff=-0.3793;MLEAC=7,4;MLEAF=0.250,0.143;MQ=56.37;MQRankSum=-4.434e+00;QD=2.12;ReadPosRankSum=1.05;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:87,0,153:240:99:0|1:195783008_A_G:5899,6161,9783,0,3622,3162:195783008	6	0	5	7
chr3	195783015	195783015	G	0	exonic	MUC4	.	.	.	.	.	1	211	4	0	10	14	0.00938967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1364	1248.83	612	chr3	195783015	.	G	*,C	1248.83	.	AC=2,1;AF=0.091,0.045;AN=22;BaseQRankSum=-6.830e-01;DP=10246;ExcessHet=0.3672;FS=2.211;InbreedingCoeff=-0.1458;MLEAC=3,2;MLEAF=0.136,0.091;MQ=55.31;MQRankSum=3.39;QD=0.83;ReadPosRankSum=2.96;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:168,0,68:236:99:1|0:195783008_A_G:1258,1763,8474,0,6711,6511:195783008	8	0	2	10
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|2:14,0,3:17:23:0|1:195783332_T_C:23,65,416,0,351,342:195783332	0	1	1	14
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	0/1:132,143,0,0,0:275:99:.:.:4320,0,4908,4942,5447,11454,4942,5447,11454,11454,4942,5447,11454,11454,11454	1	1	9	3
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|1:177,146,0:323:99:0|1:195783891_G_A:5593,0,6849,6127,7307,13488:195783891	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	0/1:234,101,0:337:99:8213,0,8982,9019,9679,18997	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	0/1:234,101,0:337:99:8213,0,8982,9019,9679,18997	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|1:258,158,0:416:99:0|1:195783891_G_A:5793,0,10146,6578,10650,17329:195783891	2	0	15	3
chr3	195784295	195784318	CACCTGTGGAAGCTGAGGAAAGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.7262_7285del:p.G2421_G2428del	.	.	416	1086	7	0	13	20	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0003	0	0	3.84e-05	1	26028	rs775224465	0.0022	0.0088	0.0022	0.0023	0.0151	0.0022	0.0021	0.0121	0.0110	0.0032	0.0043	0.0049	0	0.0030	0.0151	0.0020	0.0034	0.0026	0.0001	0.0014	9.675e-05	0.0001	0.0003	6.433e-05	5.217e-05	0.0001	8.824e-05	8.575e-05	0	0.0003	0.0003	0	0	0	9.109e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	1205.5	878	chr3	195784294	.	TCACCTGTGGAAGCTGAGGAAAGGC	T	1205.5	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.92;DP=17545;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0667;MLEAC=1;MLEAF=0.029;MQ=58.51;MQRankSum=-1.729e+01;QD=1.40;ReadPosRankSum=3.31;SOR=0.815	GT:AD:DP:GQ:PL	0/1:769,93:862:99:1218,0,31998	16	0	1	4
chr3	195784299	195784299	T	0	exonic	MUC4	.	.	.	.	.	418	1069	19	1	15	36	0.00972673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	3166.6	878	chr3	195784299	.	T	G,*	3166.6	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=-3.583e+00;DP=17640;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0959;MLEAC=1,1;MLEAF=0.029,0.029;MQ=59.59;MQRankSum=2.22;QD=1.81;ReadPosRankSum=-1.026e+00;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:769,0,93:862:99:.:.:1218,2093,34036,0,32210,31998	15	0	1	4
chr3	195784343	195784343	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7237G:p.H2413D	.	.	428	1009	55	7	23	92	0.0330618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	B	0.0	B	.	.	1.000	N	0.55	N	1.58	T	-1.007	T	0.036	T	0.101	-0.403	2.114	.	-0.914	-1.963	4.69	0.025	0.00480540183533	.	.	0.0002	0	0	0	0	0.0005	0	0	3.84e-05	1	26028	rs202190300	0.0030	0.0072	0.0028	0.0032	0.0156	0.0029	0.0028	0.0125	0.0114	0.0034	0.0055	0.0056	0	0.0057	0.0156	0.0026	0.0040	0.0037	0.0002	0.0031	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0003	0.0010	0	0	0	0.0003	0.0006	0	1.0	0.02017	T	0.195	0.28300	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.58	0.29342	T	-0.17	0.09627	N	0.166	0.17553	-1.0072	0.27789	T	0.036	0.15334	T	7	0.046534777	0.03856	T	0.004805	0.12004	T	0.025	0.05312	.	.	0.0138822411134	0.00435	6.529260570088327E-4	0.00060	.	.	0.507045388222	0.39809	T	.	.	.	-0.348596	0.04816	T	-0.738511	0.03953	T	0.0315731556165468	0.02238	T	0.566543	0.20051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07697	B	.;.	.;.	-0.449607	0.02034	0.183	0.84245075148163384	0.15179	0.00328	0.01715	N	AEFBCI	0.042811	0.06688	N	-1.40519715015048	0.02593	0.1147022	-1.53226286008654	0.02100	0.09610031	1.84639979935336E-5	0.02871	0.447487	0.09398	2	0.546412	0.12157	0	0.49644	0.08281	0	0.613276	0.41899	0	.	.	.	.	.	-3.341000	0.00560	-1.066000	0.06436	-2.392000	0.00297	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	1.0E-4:0.0:0.6456:0.3543	4.69	0.12158	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	10852.67	901	chr3	195784343	.	G	C,GACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTC	10852.67	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-7.630e-01;DP=18490;ExcessHet=0.3300;FS=2.986;InbreedingCoeff=-0.0825;MLEAC=2,1;MLEAF=0.048,0.024;MQ=57.79;MQRankSum=-1.200e+01;QD=8.33;ReadPosRankSum=-9.950e-01;SOR=1.265	GT:AD:DP:GQ:PL	0/1:414,15,0:429:29:2621,0,28811,29,15410,17873	18	0	2	0
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	1|1:5,362,0:367:99:1|1:195784652_C_G:15965,894,0,15980,1090,16176:195784652	2	3	8	4
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	117318.88	370	chr3	195784654	.	T	C,*	117318.88	.	AC=16,3;AF=0.471,0.088;AN=34;BaseQRankSum=1.41;DP=11323;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=19,4;MLEAF=0.559,0.118;MQ=54.70;MQRankSum=-1.241e+01;QD=16.09;ReadPosRankSum=-3.410e-01;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,373,0:378:99:1|1:195784652_C_G:16376,927,0,16391,1123,16587:195784652	3	3	8	4
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4706	108863.73	369	chr3	195784655	.	C	*,T	108863.73	.	AC=4,15;AF=0.118,0.441;AN=34;BaseQRankSum=2.58;DP=11307;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=5,17;MLEAF=0.147,0.500;MQ=54.71;MQRankSum=-1.230e+01;QD=14.80;ReadPosRankSum=-4.320e-01;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:4,0,375:379:99:1|1:195784652_C_G:16456,16469,16636,961,1129,0:195784652	3	0	1	4
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	181902.03	501	chr3	195784719	.	A	G,*	181902.03	.	AC=18,3;AF=0.600,0.100;AN=30;BaseQRankSum=-5.120e-01;DP=14927;ExcessHet=7.4688;FS=0.000;InbreedingCoeff=-0.1407;MLEAC=23,4;MLEAF=0.767,0.133;MQ=57.00;MQRankSum=-5.969e+00;QD=19.43;ReadPosRankSum=-2.732e+00;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,584,0:584:99:1|1:195784652_C_G:21981,1753,0,21981,1753,21981:195784652	0	4	8	6
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931	.	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	501656.58	740	chr3	195785315	.	T	C,TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	501656.58	.	AC=40,2;AF=0.952,0.048;AN=42;BaseQRankSum=1.87;DP=15694;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=57.82;MQRankSum=-3.320e-01;QD=34.25;ReadPosRankSum=-4.420e-01;SOR=0.107	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,714,0:714:99:.:.:25989,2167,0,25512,2228,27885	0	19	0	0
chr3	195785363	195785410	CTGAGGAAGGGTTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATA	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.6170_6217del:p.V2057_S2072del	.	.	439	1067	8	0	8	16	0.00373483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1038	.	0.0026	0.0034	0.0020	0	0.0050	0.0036	0.0039	0.0009	.	.	.	rs779281839	4.13e-05	0.0003	3.778e-05	4.493e-05	0.0007	3.262e-05	2.932e-05	0.0002	0.0001	6.538e-05	2.942e-05	0	0	2.118e-05	0.0007	3.809e-05	7.157e-05	6.563e-05	6.181e-05	0.0007	7.557e-05	4.743e-05	0.0002	3.054e-05	2.216e-05	6.249e-05	4.057e-05	0.0002	0	7.759e-05	0	0	0	0	3.253e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	2079.52	834	chr3	195785362	.	GCTGAGGAAGGGTTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATA	G	2079.52	.	AC=1;AF=0.029;AN=34;BaseQRankSum=4.04;DP=14185;ExcessHet=0.0000;FS=1.000;InbreedingCoeff=-0.0786;MLEAC=1;MLEAF=0.029;MQ=56.74;MQRankSum=-1.048e+01;QD=2.31;ReadPosRankSum=-5.843e+00;SOR=0.820	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:765,136:901:99:0|1:195785310_G_A:2092,0,31728:195785310	16	0	1	4
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|2:765,0,136:901:99:0|1:195785310_G_A:2092,3264,35621,0,32147,31728:195785310	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|2:765,0,136:901:99:0|1:195785310_G_A:2092,3264,35621,0,32147,31728:195785310	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|2:765,0,136:901:99:0|1:195785310_G_A:2092,3264,35621,0,32147,31728:195785310	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	1/2:2,580,158:740:99:.:.:23272,4370,2622,19718,0,24401	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	0/1:570,158,0:728:99:.:.:2659,0,23916,4418,23882,28213	11	0	1	4
chr3	195785431	195785574	GGAAGAGGGGTGTCCTGACCTGTGGATGCTGAGGAAGTATCGGTGACAGGAAGCGGCGTGGTGTCACCAGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGTCCTGTAGATACTGAGGAAGTGTCGGTGACC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.6006_6149del:p.D2005_T2052del	.	.	.	.	.	.	.	.	.	.	.	2822232	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0010	0.0020	0	0.0011	0.0016	0.0039	0.0006	.	.	.	.	3.88e-05	5.795e-05	4.041e-05	3.714e-05	0.0012	3.026e-05	2.744e-05	0.0005	0.0003	0	2.871e-05	0	0	0	0.0012	3.6e-05	8.862e-05	5.158e-05	2.036e-05	0.0002	2.654e-05	1.389e-05	4.523e-05	5.41e-06	2.5e-06	1.201e-05	6.33e-06	0	0	0	0	0	0	0	4.523e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	68.5	800	chr3	195785430	.	AGGAAGAGGGGTGTCCTGACCTGTGGATGCTGAGGAAGTATCGGTGACAGGAAGCGGCGTGGTGTCACCAGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGTCCTGTAGATACTGAGGAAGTGTCGGTGACC	A	68.5	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.12;DP=13155;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0667;MLEAC=1;MLEAF=0.029;MQ=57.74;MQRankSum=-1.146e+01;QD=0.05;ReadPosRankSum=-3.813e+00;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1122,152:1274:81:0|1:195785310_G_A:81,0,46040:195785310	16	0	1	4
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	3246.35	24	chr3	195787238	.	C	A,*	3246.35	.	AC=16,3;AF=0.421,0.079;AN=38;BaseQRankSum=1.49;DP=300;ExcessHet=2.6629;FS=47.055;InbreedingCoeff=-0.1962;MLEAC=18,3;MLEAF=0.474,0.079;MQ=37.84;MQRankSum=1.47;QD=13.47;ReadPosRankSum=-3.110e-01;SOR=1.282	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,8,0:8:24:1|1:195787233_T_A:356,24,0,356,24,356:195787233	4	2	10	2
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2873.59	19	chr3	195787273	.	T	*,C	2873.59	.	AC=4,15;AF=0.100,0.375;AN=40;BaseQRankSum=-3.190e-01;DP=324;ExcessHet=0.7352;FS=61.659;InbreedingCoeff=-0.0399;MLEAC=5,17;MLEAF=0.125,0.425;MQ=37.78;MQRankSum=1.27;QD=11.54;ReadPosRankSum=-6.730e-01;SOR=0.049	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,7:7:21:1|1:195787233_T_A:292,292,292,21,21,0:195787233	6	0	1	1
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	1237.73	147	chr3	195787579	.	G	A,*	1237.73	.	AC=2,13;AF=0.071,0.464;AN=28;DP=1766;ExcessHet=0.0393;FS=10.568;InbreedingCoeff=0.2243;MLEAC=3,17;MLEAF=0.107,0.607;MQ=51.08;QD=1.06;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,53:53:99:1|1:195787508_T_C:2385,2385,2385,160,160,0:195787508	4	1	0	7
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	923.51	147	chr3	195787584	.	A	G,*	923.51	.	AC=2,13;AF=0.077,0.500;AN=26;DP=1759;ExcessHet=0.0610;FS=9.265;InbreedingCoeff=0.2100;MLEAC=3,18;MLEAF=0.115,0.692;MQ=48.44;QD=0.79;SOR=1.346	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,53:53:99:1|1:195787508_T_C:2385,2385,2385,160,160,0:195787508	3	1	0	8
chr3	195787599	195787601	CAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3979_3981del:p.M1327del	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355836000	0.0028	0.0097	0.0026	0.0030	0.0064	0.0027	0.0026	0.0058	0.0056	0.0041	0.0014	0.0050	0.0059	0.0033	0.0007	0.0022	0.0031	0.0064	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,53:53:99:1|1:195787508_T_C:2385,2385,2385,160,160,0:195787508	5	1	0	6
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,53:53:99:1|1:195787508_T_C:2385,2385,2385,160,160,0:195787508	5	1	0	6
chr3	195787897	195787897	T	0	exonic	MUC4	.	.	.	.	.	830	484	108	98	2	306	0.238994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4090.56	24	chr3	195787897	.	T	*,C	4090.56	.	AC=2,16;AF=0.059,0.471;AN=34;BaseQRankSum=-3.270e-01;DP=455;ExcessHet=0.3330;FS=31.908;InbreedingCoeff=0.0493;MLEAC=2,18;MLEAF=0.059,0.529;MQ=36.91;MQRankSum=-3.460e-01;QD=16.17;ReadPosRankSum=0.153;SOR=4.157	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,7:7:21:.:.:285,285,285,21,21,0	4	0	1	4
chr3	195788016	195788016	-	GTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.3563_3564insCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGATGCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCAC:p.S1189_P1190insLSSVSTGDTTPLLVTDASSASTGQATPLPVTSPSSASTGDTTPLPVTS	.	.	584	914	19	4	1	28	0.0145553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0621	0.0037	0	0.0008	0.0019	0	0	.	.	.	.	0.0004	0.0015	0.0005	0.0003	0.0049	0.0003	0.0003	0.0038	0.0034	0.0049	0.0004	0.0012	0	0.0002	0.0013	0.0003	0.0010	7.675e-05	2.706e-05	0.0006	0	5.548e-05	.	0	0	.	.	0	0	0	0.0009	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	1247.51	48	chr3	195788016	.	A	AGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG	1247.51	.	AC=1;AF=0.029;AN=34;DP=1319;ExcessHet=0.0000;FS=1.710;InbreedingCoeff=0.1592;MLEAC=1;MLEAF=0.029;MQ=38.93;MQRankSum=-1.207e+00;QD=16.63;ReadPosRankSum=-7.555e+00;SOR=0.408	GT:AD:DP:GQ:PL	0/1:38,37:75:99:1260,0,1105	16	0	1	4
chr3	195788132	195788132	T	0	exonic	MUC4	.	.	.	.	.	595	698	124	3	102	232	0.08519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	6578.57	769	chr3	195788132	.	T	C,*	6578.57	.	AC=7,3;AF=0.219,0.094;AN=32;BaseQRankSum=4.36;DP=5689;ExcessHet=7.5380;FS=5.019;InbreedingCoeff=-0.3295;MLEAC=9,4;MLEAF=0.281,0.125;MQ=54.21;MQRankSum=-8.605e+00;QD=1.86;ReadPosRankSum=1.06;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,39,0:77:99:0|1:195788077_G_A:1486,0,1448,1600,1566,3166:195788077	6	0	7	5
chr3	195788146	195788146	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3077	5085.53	769	chr3	195788146	.	A	G,*	5085.53	.	AC=6,2;AF=0.231,0.077;AN=26;BaseQRankSum=5.31;DP=5652;ExcessHet=4.3158;FS=6.139;InbreedingCoeff=-0.2994;MLEAC=8,3;MLEAF=0.308,0.115;MQ=54.57;MQRankSum=-9.562e+00;QD=1.82;ReadPosRankSum=-6.330e-01;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,35,0:116:99:0|1:195788077_G_A:1226,0,3266,1470,3371,4841:195788077	5	0	6	8
chr3	195788160	195788160	G	0	exonic	MUC4	.	.	.	.	.	491	837	111	0	83	194	0.0621849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3337.77	769	chr3	195788160	.	G	A,*	3337.77	.	AC=6,2;AF=0.188,0.063;AN=32;BaseQRankSum=4.67;DP=6056;ExcessHet=4.3158;FS=5.294;InbreedingCoeff=-0.2121;MLEAC=7,2;MLEAF=0.219,0.063;MQ=55.72;MQRankSum=-1.019e+01;QD=1.10;ReadPosRankSum=-3.087e+00;SOR=1.145	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,32,0:164:99:0|1:195788077_G_A:946,0,5443,1344,5539,6883:195788077	8	0	6	5
chr3	195788174	195788174	-	GGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.3405_3406insCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACC:p.T1135_S1136insPLPVTDTSSASTGHAT	.	.	488	888	63	0	83	146	0.0342577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.555e-05	0.0009	0	0	0	0	0	0	.	.	.	rs771837975	2.281e-05	3.548e-05	2.724e-05	1.804e-05	0.0009	1.466e-05	1.244e-05	0.0005	0.0004	0.0009	0.0002	0	0	0	0	0	9.08e-05	2.878e-05	0.0006	0.0007	0.0009	0.0003	0.0030	0.0003	0.0002	0.0016	0.0012	0.0030	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	4342.47	769	chr3	195788174	.	A	AGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGG,G,*	4342.47	.	AC=1,1,2;AF=0.031,0.031,0.063;AN=32;BaseQRankSum=-2.450e-01;DP=6545;ExcessHet=0.8031;FS=4.477;InbreedingCoeff=0.0186;MLEAC=1,1,2;MLEAF=0.031,0.031,0.063;MQ=56.80;MQRankSum=-7.739e+00;QD=2.23;ReadPosRankSum=-3.187e+00;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:177,0,16,0:193:99:0|1:195788077_G_A:122,654,7760,0,7106,7058,654,7760,7106,7760:195788077	12	0	1	5
chr3	195788174	195788174	A	0	exonic	MUC4	.	.	.	.	.	488	888	63	0	83	146	0.0342577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	4342.47	769	chr3	195788174	.	A	AGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGG,G,*	4342.47	.	AC=1,1,2;AF=0.031,0.031,0.063;AN=32;BaseQRankSum=-2.450e-01;DP=6545;ExcessHet=0.8031;FS=4.477;InbreedingCoeff=0.0186;MLEAC=1,1,2;MLEAF=0.031,0.031,0.063;MQ=56.80;MQRankSum=-7.739e+00;QD=2.23;ReadPosRankSum=-3.187e+00;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:177,0,16,0:193:99:0|1:195788077_G_A:122,654,7760,0,7106,7058,654,7760,7106,7760:195788077	12	0	1	5
chr3	195788251	195788251	G	0	exonic	MUC4	.	.	.	.	.	489	878	72	7	76	162	0.0466884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	14334.43	769	chr3	195788251	.	G	C,*	14334.43	.	AC=2,1;AF=0.059,0.029;AN=34;BaseQRankSum=-1.805e+00;DP=7394;ExcessHet=0.3892;FS=1.795;InbreedingCoeff=0.1217;MLEAC=2,1;MLEAF=0.059,0.029;MQ=58.66;MQRankSum=1.54;QD=8.37;ReadPosRankSum=-1.017e+00;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,205,0:458:99:0|1:195788251_G_C:6895,0,8834,7654,9461,17115:195788251	14	0	2	4
chr3	196198306	196198306	C	T	exonic	ZDHHC19	.	nonsynonymous SNV	ZDHHC19:NM_001039617:exon7:c.G919A:p.G307R,	.	.	429	1077	16	0	0	16	0.00737327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.0	B	.	.	1.000	N	0.895	L	1.42	T	-1.036	T	0.013	T	0.151	0.312	5.693	-0.586	0.025	-1.915	7.313	0.014	.	0.0008	0.0223642	0.0121	0.0004	0.0010	0.0387	0	0.0007	0.0126	0.0980	0.0013648	211	154602	rs74579410	0.0062	0.0064	0.0044	0.0081	0.0837	0.0061	0.0060	0.0819	0.0811	0.0002	0.0002	0.0152	0.0424	2.025e-05	0.0026	0.0003	0.0081	0.0837	0.0046	0.0047	0.0030	0.0064	0.0814	0.0044	0.0042	0.0747	0.0721	0.0002	0	0.0005	0.0153	0.0400	0	0	0.0005	0.0024	0.0814	0.912	0.02355	T	0.183	0.29153	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.42	0.33189	T	-1.65	0.39503	N	0.027	0.00571	-1.0365	0.18388	T	0.013	0.04890	T	9	0.0017765462	0.00023	T	.	.	.	0.014	0.01968	0.256	0.19689	.	.	0.08470183217829699	0.08404	0.336499639747	0.35643	0.330107808113	0.14950	T	0.007665	0.07062	T	-0.667585	0.00057	T	-0.657862	0.08411	T	0.00213412758097204	0.00022	T	0.30057	0.05631	T	0.043942064	0.06937	0.0614835	0.11881	0.043942064	0.06937	0.0614835	0.11881	-4.02	0.24102	T	.	.	0.073	0.04477	B	.	.	-1.052306	0.00700	0.020	0.75964672640293796	0.11280	0.00041	0.00340	N	AEFDBI	0.035798	0.04666	N	-1.19617617547025	0.05058	0.2296897	-1.22752703612585	0.05471	0.2608102	0.996808356190673	0.35023	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.51	-0.586	0.11108	-1.971000	0.01593	-0.597000	0.08290	-0.682000	0.04210	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.4102:0.0:0.5898	7.313	0.25661	749	0.51929	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2635.98	40	chr3	196198306	.	C	T	2635.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.25;DP=1000;ExcessHet=0.0000;FS=0.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.54;ReadPosRankSum=0.657;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,67:112:99:0|1:196198306_C_T:2650,0,1664:196198306	20	0	1	0
chr3	196198312	196198312	T	A	exonic	ZDHHC19	.	nonsynonymous SNV	ZDHHC19:NM_001039617:exon7:c.A913T:p.T305S,	.	.	429	1077	16	0	0	16	0.00737327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-0.69	N	1.55	T	-1.090	T	0.004	T	0.032	-0.814	0.639	-9.02	-4.301	-4.706	3.010	0.012	.	0.0008	0.0223642	0.0121	0.0003	0.0010	0.0386	0	0.0007	0.0126	0.0980	0.0103556	1601	154602	rs117210533	0.0062	0.0064	0.0044	0.0082	0.0862	0.0061	0.0061	0.0844	0.0836	0.0002	0.0002	0.0153	0.0429	2.037e-05	0.0031	0.0003	0.0083	0.0862	0.0047	0.0047	0.0030	0.0064	0.0822	0.0044	0.0043	0.0755	0.0729	0.0002	0	0.0005	0.0153	0.0403	0	0	0.0004	0.0024	0.0822	0.816	0.02989	T	0.288	0.21144	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.55	0.29866	T	0.28	0.04233	N	0.004	0.00025	-1.0903	0.05482	T	0.004	0.01400	T	9	0.0015642345	0.00018	T	.	.	.	0.012	0.01476	0.19	0.10039	.	.	0.109454151172302	0.10874	0.254192981874	0.27987	0.282581090927	0.07855	T	0.001755	0.01176	T	-0.798994	0.00008	T	-0.845723	0.01016	T	0.007664451515336	0.00089	T	0.10429	0.00775	T	0.026184881	0.01644	0.02233805	0.00260	0.026184881	0.01644	0.02233805	0.00260	-2.351	0.04841	T	.	.	0.066	0.02118	B	.	.	-2.319859	0.00048	0.001	0.54108827479105737	0.05072	0.00122	0.00764	N	AEFDBI	0.035220	0.04495	N	-2.62481864043458	0.00008	0.0003536526	-2.67194240623829	0.00009	0.000405702	0.999999999998443	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.51	-9.02	0.00635	-5.107000	0.00177	-1.733000	0.04826	-3.497000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1107:0.3272:0.3183:0.2438	3.010	0.05675	749	0.51929	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2632.98	40	chr3	196198312	.	T	A	2632.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=1004;ExcessHet=0.0000;FS=1.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.10;ReadPosRankSum=1.16;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,67:114:99:0|1:196198306_C_T:2647,0,1726:196198306	20	0	1	0
chr3	196508294	196508294	C	T	exonic	SMCO1	.	nonsynonymous SNV	SMCO1:NM_001077657:exon3:c.G238A:p.V80I	.	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.265	B	0.03	B	.	.	1.000	N	1.04	L	1.16	T	-1.088	T	0.058	T	0.099	2.123	13.06	4.39	2.550	0.906	8.507	0.029	.	.	0.00399361	0.0015	0	8.661e-05	0	0	0	0.0022	0.0108	0.0013066	202	154602	rs560795170	0.0006	0.0006	0.0003	0.0009	0.0093	0.0006	0.0005	0.0087	0.0085	2.994e-05	0	7.665e-05	0	0	0	8.997e-06	0.0007	0.0093	0.0004	0.0004	0.0002	0.0006	0.0121	0.0003	0.0003	0.0096	0.0087	7.226e-05	0	0	0	0	0	0	1.47e-05	0	0.0121	0.265	0.16305	T	0.375	0.16231	T	0.265	0.31634	B	0.03	0.21741	B	.	.	.	.	1	0.08975	N	2.47	0.71715	M	1.16	0.38073	T	-0.5	0.15782	N	0.08	0.05542	-1.0880	0.05873	T	0.058	0.24502	T	9	0.003527522	0.00063	T	.	.	.	0.029	0.06676	0.184	0.09259	0.0716867268079	0.06686	0.03840676787954685	0.03786	0.189881570677	0.21310	.	.	.	0.007025	0.06451	T	-0.55744	0.00263	T	-0.565538	0.15860	T	0.0390924983810011	0.03527	T	0.59464	0.22023	T	0.036171447	0.04399	0.069208935	0.14551	0.036171447	0.04399	0.069208935	0.14551	-3.518	0.16685	T	.	.	0.117	0.23640	B	.	.	1.968923	0.25009	16.61	0.99763673500591499	0.85254	0.15924	0.19147	N	AEFDBI	0.057108	0.10612	N	-0.454446699847426	0.23589	1.267849	-0.415682043791093	0.24537	1.344176	0.999997262597745	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.46	4.39	0.52211	0.934000	0.28510	0.542000	0.19343	0.594000	0.32500	0.374000	0.25957	0.077000	0.22320	0.230000	0.22734	0.0:0.8398:0.0:0.1602	8.507	0.32356	824	0.40336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1088.98	36	chr3	196508294	.	C	T	1088.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.92;DP=790;ExcessHet=0.0000;FS=7.278;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=1.56;SOR=1.714	GT:AD:DP:GQ:PL	0/1:42,37:79:99:1103,0,1025	20	0	1	0
chr3	196728103	196728103	A	G	exonic	PIGX	.	nonsynonymous SNV	PIGX:NM_001166304:exon4:c.A499G:p.N167D	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.622	P	0.217	B	0.061	N	0.968	N	1.5	L	1.56	T	-1.061	T	0.053	T	0.065	0.517	6.804	2.91	0.322	0.954	6.209	0.028	0.00864220318613	.	.	0.0002	0	0	0	0	6.024e-05	0.0011	0.0012	0.0001552	24	154602	rs771213420	9.577e-05	9.577e-05	5.581e-05	0.0001	0.0010	8.242e-05	7.783e-05	0.0008	0.0007	2.987e-05	0	0	0	0	0	4.766e-05	6.623e-05	0.0010	2.628e-05	2.627e-05	1.285e-05	4.035e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.271	0.22224	T	0.123	0.35582	T	0.229	0.39964	B	0.091	0.37636	B	0.060726	0.22226	N	0.504996	0.967769	0.25833	N	1.79	0.46772	L	1.56	0.29602	T	-1.35	0.34198	N	0.086	0.06322	-1.0606	0.11607	T	0.053	0.22423	T	10	0.034826428	0.01705	T	0.008642	0.22829	T	0.028	0.06331	0.4	0.42917	0.235038932564	0.23097	0.20817024182459817	0.20733	.	.	0.331576287746	0.15173	T	0.016673	0.13737	T	-0.580207	0.00192	T	-0.656645	0.08494	T	0.0391866675829578	0.03543	T	0.581942	0.21082	T	0.0909612	0.21301	0.13840911	0.33055	0.0909612	0.21301	0.13840911	0.33055	-2.731	0.12082	T	.	.	0.089	0.18206	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.432348	0.18510	13.77	0.90265720656328841	0.19535	0.62042	0.31662	D	AEFGBI	0.223851	0.34815	N	-0.402431215629411	0.25384	1.377534	-0.387078035584405	0.25381	1.395464	0.974360197253637	0.29536	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.36	2.91	0.32903	0.839000	0.27239	2.868000	0.35247	0.756000	0.94297	0.860000	0.30612	0.851000	0.27392	0.281000	0.24041	0.7538:0.1618:0.0845:0.0	6.209	0.19833	840	0.37365	.;.;.;.;.;.;.	.	.	.	.	.	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	1080.98	33	chr3	196728103	.	A	G	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.836;DP=772;ExcessHet=0.0000;FS=1.976;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.306;SOR=0.982	GT:AD:DP:GQ:PL	0/1:38,39:77:99:1095,0,1000	20	0	1	0
chr3	196886331	196886333	ACC	-	exonic	SENP5	.	nonframeshift deletion	SENP5:NM_001308045:exon2:c.1150_1152del:p.T384del	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0011	0	0	0.0146	0	0	0	0.0002	0.0009508	147	154602	rs144853607	0.0011	0.0011	0.0011	0.0010	0.0369	0.0010	0.0010	0.0354	0.0347	0	6.716e-05	0	0.0369	0	0.0005	1.619e-05	0.0007	9.283e-05	0.0006	0.0006	0.0005	0.0008	0.0185	0.0005	0.0005	0.0155	0.0144	0	0	0	0	0.0185	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3145.94	39	chr3	196886330	.	TACC	T	3145.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.839e+00;DP=897;ExcessHet=0.0000;FS=9.124;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.84;ReadPosRankSum=0.187;SOR=0.604	GT:AD:DP:GQ:PL	0/1:85,82:167:99:3160,0,3291	20	0	1	0
chr3	197017123	197017123	G	A	exonic	MELTF	.	nonsynonymous SNV	MELTF:NM_005929:exon7:c.C880T:p.R294W,	.	.	411	1087	24	0	0	24	0.010919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.809	P	0.018	N	1.000	D	2.43	M	2.47	T	-1.162	T	0.014	T	0.49	4.252	22.2	4.81	1.384	1.921	12.890	0.230	.	0.0018	0.0283546	0.0208	0.0013	0.0509	0.0581	0.0005	0.0024	0.0198	0.0754	0.0156854	2425	154602	rs2276790	0.0078	0.0079	0.0063	0.0093	0.0634	0.0077	0.0077	0.0620	0.0614	0.0010	0.0336	0.0112	0.0504	0.0003	0.0029	0.0014	0.0102	0.0634	0.0071	0.0071	0.0062	0.0080	0.0615	0.0067	0.0066	0.0558	0.0535	0.0014	0	0.0176	0.0133	0.0567	0.0003	0.0034	0.0013	0.0109	0.0615	0.006	0.61437	D	0.008	0.67890	D	0.998	0.73220	D	0.809	0.58564	P	0.017625	0.27675	N	0.419477	0.997883	0.22461	N	2.495	0.72670	M	2.47	0.14783	T	-3.89	0.72820	D	0.388	0.42931	-1.1619	0.00712	T	0.014	0.05369	T	10	0.0073421896	0.00167	T	.	.	.	0.230	0.53062	.	.	.	.	0.6055100167337348	0.60482	0.69199338216	0.60632	0.250929236412	0.03866	T	0.18354	0.53591	T	-0.473058	0.00814	T	-0.404397	0.32872	T	0.0268563781333905	0.01524	T	0.89971	0.64861	D	0.48027325	0.65917	0.4018112	0.64681	0.48027325	0.65918	0.4018112	0.64681	-8.093	0.61703	D	.	.	0.093	0.13830	B	.	.	4.998958	0.82931	27.9	0.99926407414701635	0.99103	0.89370	0.49794	D	AEFBCI	0.847238	0.76409	D	0.512766042721571	0.67842	5.13614	0.480715062957765	0.66714	4.988075	0.0814494892959752	0.15873	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.69	4.81	0.61401	1.325000	0.33330	7.498000	0.59452	0.676000	0.76740	0.906000	0.31575	1.000000	0.68203	0.943000	0.48514	0.0:0.0:0.704:0.296	12.890	0.57461	677	0.60274	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1299.98	33	chr3	197017123	.	G	A	1299.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=792;ExcessHet=0.0000;FS=1.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=-3.180e-01;SOR=0.908	GT:AD:DP:GQ:PL	0/1:48,49:97:99:1314,0,1184	20	0	1	0
chr3	197130607	197130607	G	C	exonic	DLG1	.	nonsynonymous SNV	DLG1:NM_001204387:exon7:c.C836G:p.S279C	.	.	10	1511	1	0	0	1	0.000330797	.	.	3207074	DLG1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.996	D	0.926	D	0.000	D	1.000	D	1.815	L	2.19	T	-1.060	T	0.124	T	0.49	4.125	21.3	5.65	2.667	9.420	18.704	0.269	.	.	0.00259585	0.0008	0	0	0	0	0	0	0.0058	0.0007115	110	154602	rs571186311	0.0003	0.0003	0.0002	0.0004	0.0049	0.0003	0.0003	0.0045	0.0044	0	0	0	2.53e-05	1.9e-05	0	2.7e-06	0.0006	0.0049	0.0003	0.0003	0.0001	0.0004	0.0079	0.0002	0.0002	0.0059	0.0052	0	0	0	0	0	0	0	1.471e-05	0	0.0079	0.084	0.65419	T	0.096	0.69154	T	0.99	0.63424	D	0.831	0.59664	P	0.000003	0.62929	D	0.061993	0.999993	0.58761	D	1.65	0.42232	L	2.19	0.18724	T	-3.04	0.68298	D	0.514	0.54584	-1.0599	0.11781	T	0.124	0.42757	T	10	0.011205822	0.00246	T	.	.	.	0.269	0.58381	0.686	0.82367	0.406955170226	0.40314	0.49549592152912025	0.49470	0.771509722046	0.64789	0.749972820282	0.74442	T	0.363751	0.72945	T	-0.379006	0.03160	T	-0.316102	0.43000	T	0.172093573885788	0.18721	T	0.933007	0.74900	D	0.5979317	0.72580	0.33805218	0.59588	0.5979317	0.72581	0.33805218	0.59587	-9.199	0.69833	D	.	.	0.125	0.27762	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.823076	0.78580	26.9	0.9876398297851281	0.45862	0.99339	0.94716	D	AEFGBI	0.902620	0.85073	D	0.703083808345824	0.79833	7.162342	0.745578975528683	0.85825	8.698109	0.999999999941709	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	7.736000	0.83883	11.757000	0.95541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.704	0.91594	933	0.16026	.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;.;.;PDZ domain|PDZ domain|PDZ domain;.;.;.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	886.98	35	chr3	197130607	.	G	C	886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.820e-01;DP=770;ExcessHet=0.0000;FS=1.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.24;ReadPosRankSum=-1.698e+00;SOR=0.822	GT:AD:DP:GQ:PL	0/1:57,39:96:99:901,0,1521	20	0	1	0
chr4	1737293	1737293	G	A	exonic	TACC3	.	nonsynonymous SNV	TACC3:NM_006342:exon9:c.G1801A:p.V601M,	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.999	D	0.915	D	0.835	N	1.000	N	1.845	L	2.84	T	-1.041	T	0.055	T	0.333	2.112	13.02	0.354	0.100	0.511	6.943	0.074	0.012362974314	.	.	8.287e-06	0	8.67e-05	0	0	0	0	0	6.5e-06	1	154602	rs761464132	6.157e-06	6.156e-06	5.445e-06	6.876e-06	0.0009	2.9e-06	2.1e-06	0.0003	0.0002	0	2.236e-05	0	2.519e-05	0	0.0009	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.31235	T	0.114	0.36765	T	0.999	0.77913	D	0.915	0.65091	D	0.834767	0.09079	N	0.894418	1	0.08975	N	1.625	0.41611	L	2.84	0.10674	T	-1.21	0.30762	N	0.351	0.39254	-1.0411	0.16981	T	0.055	0.23186	T	10	0.21548584	0.38102	T	0.012363	0.30863	T	0.074	0.21613	0.174	0.08014	0.270889551736	0.26708	0.12797299764545608	0.12722	0.33828758877	0.35804	0.538798868656	0.44276	T	0.104869	0.41482	T	-0.26886	0.11884	T	-0.527121	0.19576	T	0.125419646501541	0.14953	T	0.771423	0.40183	T	0.04516151	0.07345	0.040789634	0.04489	0.04516151	0.07345	0.040789634	0.04489	-4.816	0.34777	T	.	.	0.225	0.45690	B	.	.	2.469455	0.31825	18.86	0.99333801204231231	0.59895	0.44909	0.27422	N	AEFDBCI	0.038984	0.05599	N	-0.409006094837244	0.25153	1.363301	-0.582944636572218	0.19938	1.071969	0.999911772277787	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.54	0.354	0.15300	0.404000	0.20722	3.061000	0.36160	0.671000	0.69459	0.514000	0.27064	0.999000	0.35428	0.025000	0.12405	0.0:0.334:0.3517:0.3143	6.943	0.23684	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	1	0	0	0	0.04762	3176.11	33	chr4	1737293	.	G	A	3176.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.524e+00;DP=931;ExcessHet=0.1072;FS=2.023;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=0.242;SOR=0.572	GT:AD:DP:GQ:PL	0/1:69,62:131:99:1513,0,1820	19	0	2	0
chr4	2931463	2931463	G	A	exonic	MFSD10	.	nonsynonymous SNV	MFSD10:NM_001363679:exon9:c.C917T:p.P306L,	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.012	B	0.027	B	.	.	1.000	D	.	.	0.69	T	-1.016	T	0.069	T	.	0.821	8.305	3.09	0.582	0.341	4.180	0.030	0.00941737385725	0.0002	.	0.0009	0	0.0013	0	0	0.0008	0	0.0015	0.0002652	41	154602	rs376864708	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0003	0.0008	0.0008	6.195e-05	0.0002	0	0	0	0.0016	0.0003	0.0005	0.0010	0.0001	0.0001	0.0001	0.0001	0.0002	7.086e-05	5.743e-05	0.0001	9.9e-05	0	0	0	0	0	0	0.0034	0.0002	0.0005	0.0002	0.244	0.17468	T	0.255	0.23365	T	0.012	0.16265	B	0.027	0.21085	B	.	.	.	.	0.616782	0.81001	D	.	.	.	0.69	0.51714	T	2.06	0.00379	N	0.348	0.38950	-1.0158	0.25078	T	0.069	0.28180	T	8	0.025450379	0.00739	T	0.009417	0.24693	T	0.030	0.07022	.	.	0.378322506985	0.37446	.	.	.	.	.	.	.	0.104746	0.41459	T	-0.332062	0.05957	T	-0.300201	0.44703	T	0.0234668268359589	0.01079	T	0.509649	0.16214	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.22098	B	.	.	1.060873	0.14425	11.00	0.94479724319400959	0.24934	0.67338	0.33397	D	AEFDBCI	0.090740	0.18385	N	-0.093152188924336	0.37692	2.196594	-0.168484838900721	0.32704	1.863232	0.999995433595738	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	3.99	3.09	0.34677	0.550000	0.23052	2.065000	0.30414	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.686000	0.33718	0.1783:0.0:0.4843:0.3374	4.180	0.09830	609	0.67094	Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	814.98	42	chr4	2931463	.	G	A	814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.68;DP=788;ExcessHet=0.0000;FS=1.264;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.90;ReadPosRankSum=-7.360e-01;SOR=0.766	GT:AD:DP:GQ:PL	0/1:15,24:39:99:829,0,380	20	0	1	0
chr4	3074882	3074882	-	CAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAG:p.Q38_P39insQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:2,0,0,24,0,0,0:26:99:.:.:799,860,1111,860,1111,1111,0,192,192,208,860,1111,1111,192,1111,860,1111,1111,192,1111,1111,860,1111,1111,192,1111,1111,1111	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	0/3:2,0,0,24,0,0,0:26:99:.:.:799,860,1111,860,1111,1111,0,192,192,208,860,1111,1111,192,1111,860,1111,1111,192,1111,1111,860,1111,1111,192,1111,1111,1111	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	0/3:2,0,0,24,0,0,0:26:99:.:.:799,860,1111,860,1111,1111,0,192,192,208,860,1111,1111,192,1111,860,1111,1111,192,1111,1111,860,1111,1111,192,1111,1111,1111	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	0/3:2,0,0,24,0,0,0:26:99:.:.:799,860,1111,860,1111,1111,0,192,192,208,860,1111,1111,192,1111,860,1111,1111,192,1111,1111,860,1111,1111,192,1111,1111,1111	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	0/3:2,0,0,24,0,0,0:26:99:.:.:799,860,1111,860,1111,1111,0,192,192,208,860,1111,1111,192,1111,860,1111,1111,192,1111,1111,860,1111,1111,192,1111,1111,1111	3	1	1	0
chr4	3074909	3074910	GC	-	exonic	HTT	.	frameshift deletion	HTT:NM_002111:exon1:c.84_85del:p.Q29Afs*53,	Huntington disease, Autosomal dominant	.	3	1504	11	3	1	18	0.00561983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0003	0.0003074	8	26028	rs767553699	0.0013	0.0019	0.0012	0.0015	0.0037	0.0013	0.0013	0.0026	0.0025	0.0006	0.0015	0.0065	0	0.0008	0.0037	0.0011	0.0028	0.0029	0.0037	0.0039	0.0041	0.0034	0.0051	0.0035	0.0034	0.0046	0.0045	0.0015	0	0.0043	0.0109	0.0012	0.0011	0.0035	0.0051	0.0069	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	963.1	26	chr4	3074908	.	AGC	A	963.1	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.900e-01;DP=1061;ExcessHet=0.3300;FS=0.896;InbreedingCoeff=-0.0723;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.26;ReadPosRankSum=1.87;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,2:27:7:0|1:3074908_AGC_A:7,0,1044:3074908	18	0	3	0
chr4	3074912	3074927	GCAGCAGCAGCAGCAG	-	exonic	HTT	.	frameshift deletion	HTT:NM_002111:exon1:c.87_102del:p.Q29Hfs*67,	Huntington disease, Autosomal dominant	.	3	1503	11	3	2	19	0.00562355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0003	0.0003074	8	26028	rs760691860	0.0013	0.0019	0.0012	0.0014	0.0034	0.0013	0.0012	0.0026	0.0025	0.0005	0.0015	0.0064	0	0.0008	0.0034	0.0011	0.0025	0.0030	0.0036	0.0039	0.0040	0.0032	0.0050	0.0034	0.0033	0.0046	0.0044	0.0015	0	0.0041	0.0109	0.0010	0.0009	0.0035	0.0050	0.0064	0.0032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	963.1	26	chr4	3074911	.	AGCAGCAGCAGCAGCAG	A	963.1	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.455e+00;DP=1057;ExcessHet=0.3300;FS=0.896;InbreedingCoeff=-0.0723;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.26;ReadPosRankSum=1.78;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,2:27:7:0|1:3074908_AGC_A:7,0,1044:3074908	18	0	3	0
chr4	3074923	3074925	AGC	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1002.47	26	chr4	3074923	.	AGC	A,*	1002.47	.	AC=2,3;AF=0.048,0.071;AN=42;BaseQRankSum=0.00;DP=1062;ExcessHet=1.1607;FS=3.015;InbreedingCoeff=-0.1290;MLEAC=2,2;MLEAF=0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=5.28;ReadPosRankSum=3.05;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:25,0,2:27:6:1|0:3074908_AGC_A:6,90,1197,0,1078,1085:3074908	16	0	2	0
chr4	3074926	3074930	AGCAG	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	0	201	8	1	16	26	0.0242718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	996.46	26	chr4	3074926	.	AGCAG	A,ACAG,*	996.46	.	AC=1,1,3;AF=0.024,0.024,0.071;AN=42;BaseQRankSum=-1.289e+00;DP=1053;ExcessHet=1.1607;FS=3.015;InbreedingCoeff=-0.1290;MLEAC=1,1,2;MLEAF=0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=5.24;ReadPosRankSum=3.07;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:25,0,0,2:27:6:1|0:3074908_AGC_A:6,90,1197,90,1197,1197,0,1078,1078,1085:3074908	16	0	1	0
chr4	3074927	3074927	G	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	4	1369	54	4	91	153	0.0221429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	957.88	16	chr4	3074927	.	G	GCAA,*	957.88	.	AC=3,5;AF=0.071,0.119;AN=42;BaseQRankSum=-8.410e-01;DP=1050;ExcessHet=0.5418;FS=3.188;InbreedingCoeff=0.0867;MLEAC=3,4;MLEAF=0.071,0.095;MQ=59.47;MQRankSum=2.60;QD=4.01;ReadPosRankSum=3.51;SOR=0.920	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:25,0,2:27:6:1|0:3074908_AGC_A:6,90,1197,0,1078,1085:3074908	14	0	2	0
chr4	3130311	3130311	A	G	exonic	HTT	.	nonsynonymous SNV	HTT:NM_002111:exon14:c.A1874G:p.Q625R,	Huntington disease, Autosomal dominant	.	1	1492	26	3	0	32	0.0106101	.	.	1582210	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.002	B	0.003	B	0.000	D	0.572	N	1.61	L	3.5	T	-1.127	T	0.015	T	0.187	2.316	13.70	5.06	2.128	3.601	14.974	0.079	0.00307469766437	0.0060	0.00279553	0.0059	0.0009	0.0029	0	0.0006	0.0078	0.0080	0.0090	0.0056597	875	154602	rs151106561	0.0059	0.0059	0.0058	0.0060	0.0080	0.0058	0.0058	0.0071	0.0069	0.0010	0.0035	0.0182	2.569e-05	0.0010	0.0080	0.0061	0.0074	0.0076	0.0039	0.0039	0.0042	0.0036	0.0057	0.0036	0.0035	0.0053	0.0051	0.0010	0	0.0048	0.0118	0.0002	0.0010	0.0068	0.0057	0.0061	0.0044	0.327	0.13262	T	0.026	0.55759	D	0.002	0.09854	B	0.003	0.08700	B	0.000050	0.53742	D	0.167936	0.571816	0.31172	N	1.1	0.28011	L	3.5	0.05014	T	-1.11	0.28703	N	0.159	0.16586	-1.1266	0.01952	T	0.015	0.06282	T	10	0.0044893026	0.00092	T	0.003075	0.06636	T	0.079	0.23065	.	.	0.302481332339	0.29867	0.14526518922379095	0.14449	0.176767326265	0.19889	0.343192756176	0.16915	T	0.156359	0.49850	T	-0.569926	0.00222	T	-0.584897	0.14111	T	0.0155558761070371	0.00353	T	0.761424	0.52631	T	0.13567653	0.31481	0.16072819	0.37421	0.14039071	0.32392	0.16072819	0.37421	-3.741	0.19925	T	0.09116276268044496	0.05754	0.093	0.16582	B	.;.	.;.	1.891908	0.24027	16.24	0.99241762718833137	0.56565	0.91378	0.53413	D	AEFDBI	0.228202	0.35191	N	-0.0599764683322441	0.39158	2.304722	0.0926252157069326	0.44176	2.704542	0.999986357448469	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.617000	0.53923	2.734000	0.34411	0.756000	0.94297	0.998000	0.41325	0.929000	0.28499	0.997000	0.79791	1.0:0.0:0.0:0.0	14.974	0.70906	456	0.79013	.;.	.	.	.	.	.	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	0.07143	2557.68	73	chr4	3130311	.	A	G	2557.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.863e+00;DP=876;ExcessHet=0.3300;FS=3.717;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=-1.034e+00;SOR=0.482	GT:AD:DP:GQ:PL	0/1:36,39:75:99:840,0,961	18	0	3	0
chr4	6605319	6605319	A	G	exonic	MAN2B2	.	nonsynonymous SNV	MAN2B2:NM_001292038:exon11:c.A1651G:p.I551V	.	.	423	1083	15	1	0	17	0.00778745	.	.	2822392	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.48	T	0.27	B	0.09	B	0.001	N	0.990	D	1.05	L	-1.47	T	-0.984	T	0.113	T	0.163	1.520	11.03	0.622	-0.120	2.522	7.555	0.154	.	0.0091	0.00499201	0.0077	0.0016	0.0065	0	0.0023	0.0120	0.0057	0.0011	0.0077813	1203	154602	rs144650979	0.0094	0.0094	0.0096	0.0093	0.0112	0.0093	0.0092	0.0110	0.0110	0.0013	0.0074	0.0026	2.53e-05	0.0032	0.0063	0.0112	0.0095	0.0009	0.0075	0.0075	0.0083	0.0066	0.0119	0.0071	0.0070	0.0112	0.0110	0.0020	0.0263	0.0099	0.0023	0.0002	0.0028	0.0068	0.0119	0.0123	0.0002	0.111	0.29029	T	0.071	0.43531	T	0.27	0.31762	B	0.09	0.29851	B	0.000761	0.41888	N	0.234730	0.990054	0.41078	D	0.955	0.23872	L	-1.47	0.81067	T	-0.74	0.20791	N	0.111	0.13341	-0.9836	0.34164	T	0.113	0.40238	T	10	0.0066870153	0.00152	T	.	.	.	0.154	0.40340	.	.	0.466991082792	0.46324	0.3733498616961238	0.37248	0.119050824519	0.13409	0.351123154163	0.18087	T	0.081218	0.36545	T	-0.39365	0.02548	T	-0.325903	0.41923	T	0.00872580814296442	0.00107	T	0.656934	0.26653	T	0.023538275	0.01101	0.040781256	0.04486	0.023538275	0.01101	0.040781256	0.04486	-4.285	0.27966	T	.	.	0.092	0.13969	B	.;.	.;.	0.753606	0.11232	7.864	0.93925048968883906	0.23970	0.63510	0.32112	D	AEFDBHCI	0.172032	0.29904	N	-0.686962103285726	0.16392	0.8347589	-0.597490105363637	0.19558	1.049898	0.00447346563001248	0.10576	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.46	0.622	0.16822	2.600000	0.45904	-0.622000	0.08169	-0.274000	0.06627	1.000000	0.71638	0.000000	0.08366	0.831000	0.39176	0.7377:0.0:0.2623:0.0	7.555	0.26986	976	0.04745	Glycosyl hydrolase family 38, C-terminal;Glycosyl hydrolase family 38, C-terminal	.	.	MAN2B2	Stomach	rs144650979	Likely benign	0	0	0	0	0	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	301.98	39	chr4	6605319	.	A	G	301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.650e-01;DP=802;ExcessHet=0.0000;FS=1.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.95;ReadPosRankSum=-1.109e+00;SOR=0.330	GT:AD:DP:GQ:PL	0/1:25,13:38:99:316,0,810	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	0/1:90,33:123:99:228,0,2264	0	0	21	0
chr4	9210768	9210768	C	G	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.C112G:p.P38A,	.	.	677	833	12	0	0	12	0.00715137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	0.864	U	1.000	N	0.895	L	2.44	T	-0.971	T	0.036	T	0.156	0.353	5.915	0.337	0.444	1.378	.	0.045	0.0015459483867	.	.	.	.	.	.	.	.	.	.	.	.	.	rs754133272	0.0004	0.0014	0.0004	0.0004	0.0014	0.0003	0.0003	0.0003	0.0003	0.0004	0.0004	0.0010	0	0.0013	0.0014	0.0004	0.0004	0.0004	0	0.0009	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.048	0.41915	D	0.011	0.65728	D	.	.	.	.	.	.	0.864414	0.08871	U	0.896444	1	0.08975	N	2.115	0.58683	M	2.41	0.15492	T	-3.47	0.67824	D	0.205	0.23125	-0.9713	0.36925	T	0.036	0.15553	T	7	0.13079363	0.24892	T	0.001546	0.02420	T	0.045	0.12272	0.208	0.12497	0.110078149338	0.10416	0.020390398911889974	0.01992	.	.	0.469341129065	0.34589	T	0.062536	0.31943	T	-0.279078	0.10765	T	-0.638653	0.09767	T	0.200948345136473	0.20468	T	0.732227	0.34774	T	0.09496307	0.22339	0.15532763	0.36414	0.09496307	0.22339	0.15532763	0.36413	-3.727	0.19717	T	.	.	0.082	0.08705	B	.;.	.;.	0.587323	0.09560	6.333	0.75078402490821039	0.10937	0.01658	0.05317	N	AEFI	0.025428	0.01739	N	-0.724146622873609	0.15345	0.772478	-0.928985853526401	0.11412	0.5812106	3.04856071153045E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	-0.237000	0.09007	.	.	0.397000	0.20528	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	124.11	34	chr4	9210768	.	C	G	124.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=5.26;DP=855;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=21.78;MQRankSum=2.60;QD=1.27;ReadPosRankSum=0.670;SOR=0.041	GT:AD:DP:GQ:PL	0/1:53,9:62:60:60,0,1205	19	0	2	0
chr4	9211056	9211056	A	T	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.A400T:p.R134W,	.	.	1305	216	0	1	0	2	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	3.305	M	1.47	T	-0.881	T	0.143	T	0.204	0.502	6.724	0.337	-1.343	2.332	.	0.197	0.00476448385388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.102e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.18823	T	0.198	0.29945	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	1.845	0.48678	L	1.47	0.31987	T	-2.91	0.62747	D	0.31	0.34981	-0.8812	0.49665	T	0.143	0.46514	T	5	0.3090926	0.48399	T	0.004764	0.11879	T	0.197	0.47942	0.726	0.86024	0.306377322295	0.30243	0.0788658054830916	0.07821	.	.	0.605834960938	0.53728	T	0.017172	0.14057	T	-0.233373	0.16206	T	-0.573	0.15176	T	0.227295238371596	0.21822	T	0.125887	0.00981	T	0.07114274	0.15727	0.08547437	0.19738	0.07114274	0.15727	0.08547437	0.19738	-7.867	0.60160	D	.	.	0.109	0.20819	B	.;.	.;.	1.733157	0.22059	15.46	0.63011913879780612	0.07111	0.16385	0.19364	N	AEFI	0.275719	0.39061	N	-0.869138354620251	0.11581	0.5597085	-1.10491363396401	0.07606	0.3706144	2.40306645994285E-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	0.337	0.15206	2.656000	0.46380	.	.	-0.487000	0.05053	0.976000	0.34826	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	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	0.25	86.11	435	chr4	9211056	.	A	T	86.11	.	AC=2;AF=0.250;AN=8;DP=435;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.375;MQ=45.83;QD=21.14;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:9211056_A_T:90,6,0:9211056	3	1	0	17
chr4	9211057	9211057	G	A	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.G401A:p.R134K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	0.89	L	1.68	T	-0.998	T	0.044	T	0.079	0.722	7.842	0.337	0.444	1.412	.	0.086	0.00543050194452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.437e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.26965	T	0.375	0.17217	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	0.69	0.16971	N	1.68	0.27184	T	-0.93	0.25118	N	0.153	0.16864	-0.9984	0.30367	T	0.044	0.19029	T	5	0.15810168	0.29738	T	0.005431	0.13954	T	0.086	0.25016	0.569	0.69167	0.0551355673512	0.04727	0.04405893749363262	0.04349	.	.	0.607675909996	0.53987	T	0.004322	0.03729	T	-0.309827	0.07763	T	-0.682822	0.06812	T	0.111281596124172	0.13556	T	0.0862914	0.00633	T	0.09286387	0.21795	0.10602055	0.25498	0.09286387	0.21795	0.10602055	0.25498	-6.918	0.53432	T	.	.	0.128	0.27283	B	.;.	.;.	1.525127	0.19577	14.33	0.77909286419949186	0.12074	0.01265	0.04434	N	AEFI	0.030333	0.03031	N	-0.599603371885282	0.18957	0.9884032	-0.75484656617767	0.15604	0.8214607	1.8234855900376E-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	0.337	0.15206	2.108000	0.41478	.	.	-0.455000	0.05132	0.998000	0.41325	0.000000	0.08366	0.003000	0.05239	.	.	.	.	.	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	0.25	86.11	435	chr4	9211057	.	G	A	86.11	.	AC=2;AF=0.250;AN=8;DP=435;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.375;MQ=45.83;QD=26.05;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:9211056_A_T:90,6,0:9211056	3	1	0	17
chr4	9211059	9211059	G	C	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.G403C:p.A135P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	1.675	L	3.4	T	-0.996	T	0.023	T	0.404	1.928	12.41	0.337	0.444	2.162	.	0.161	0.00340347822481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.568e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.013	0.65728	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	2.89	0.83701	M	3.4	0.05642	T	-3.69	0.72594	D	0.286	0.35832	-0.9955	0.31164	T	0.023	0.09604	T	5	0.42796576	0.57301	T	0.003403	0.07633	T	0.161	0.41658	0.763	0.89133	0.112648838833	0.10856	0.1009747330987612	0.10028	.	.	0.645808935165	0.59390	T	0.019659	0.15622	T	-0.136938	0.30378	T	-0.434478	0.29428	T	0.985820293426514	0.76706	D	0.878412	0.59357	D	0.75448453	0.81130	0.5634881	0.74739	0.75448453	0.81131	0.5634881	0.74740	-13.841	0.92529	D	.	.	0.352	0.56715	A	.;.	.;.	3.030063	0.40581	21.2	0.99396544934084852	0.62610	0.44721	0.27380	N	AEFI	0.170593	0.29750	N	-0.497238674986116	0.22171	1.181979	-0.682924728730024	0.17388	0.9243311	2.25147003155833E-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	0.337	0.15206	3.470000	0.52864	.	.	0.443000	0.21123	0.997000	0.40164	0.004000	0.18990	0.011000	0.09372	.	.	.	.	.	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	0.25	86.11	435	chr4	9211059	.	G	C	86.11	.	AC=2;AF=0.250;AN=8;DP=435;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.375;MQ=45.83;QD=29.51;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:9211056_A_T:90,6,0:9211056	3	1	0	17
chr4	9782253	9782253	T	C	exonic	DRD5	.	nonsynonymous SNV	DRD5:NM_000798:exon1:c.T224C:p.M75T,	Dystonia, primary cervical (3)	.	370	1146	6	0	0	6	0.00261097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.729	P	0.236	B	0.000	D	1.000	D	-0.165	N	1.3	T	-1.045	T	0.040	T	0.229	1.934	12.43	2.83	0.609	4.667	8.379	0.124	0.00274293057261	0.0009	.	0.0011	0.0005	0.0003	0	0.0008	0.0018	0.0011	0.0001	0.0009767	151	154602	rs151282040	0.0010	0.0010	0.0011	0.0010	0.0061	0.0010	0.0010	0.0045	0.0039	0.0001	0.0003	0.0016	0	0.0009	0.0061	0.0012	0.0013	0.0003	0.0008	0.0008	0.0007	0.0009	0.0013	0.0007	0.0006	0.0011	0.0010	0.0002	0	0.0004	0.0014	0	0.0006	0.0068	0.0013	0.0005	0.0002	0.067	0.35918	T	0.003	0.76473	D	0.729	0.42602	P	0.236	0.38470	B	0.000002	0.62929	D	0.057916	0.901392	0.36180	D	0.03	0.08032	N	1.3	0.35590	T	-1.37	0.33998	N	0.131	0.12627	-1.0454	0.15709	T	0.040	0.17362	T	10	0.035781264	0.01843	T	0.002743	0.05665	T	0.124	0.34239	.	.	0.307016933798	0.30308	0.5923767464184914	0.59167	0.274372190121	0.29930	0.803236782551	0.82457	D	0.154997	0.49654	T	-0.460837	0.00972	T	-0.459365	0.26669	T	0.0768838287611642	0.09584	T	0.771723	0.40231	T	0.5722798	0.71186	0.60634446	0.77113	0.5722798	0.71187	0.60634446	0.77114	-6.197	0.47898	T	.	.	0.129	0.27553	B	.	.	2.414654	0.31037	18.62	0.97237641563409605	0.32978	0.97552	0.75497	D	AEFDBI	0.628644	0.61065	D	-0.155471923634549	0.35002	2.005032	-0.0750056452285149	0.36427	2.119762	0.999413293634864	0.39577	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	4.01	2.83	0.32150	4.725000	0.61673	.	.	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.899000	0.43558	0.0:0.0944:0.0:0.9056	8.379	0.31619	917	0.20147	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	420.98	35	chr4	9782253	.	T	C	420.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.975;DP=767;ExcessHet=0.0000;FS=1.219;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.74;MQRankSum=0.00;QD=10.52;ReadPosRankSum=0.304;SOR=0.941	GT:AD:DP:GQ:PL	0/1:24,16:40:99:435,0,645	20	0	1	0
chr4	15003254	15003254	-	GCC	exonic	CPEB2	.	nonframeshift insertion	CPEB2:NM_001177381:exon1:c.581_582insGCC:p.L202_G682delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*	.	.	0	191	27	1	7	36	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0142	0.0111	0.0222	0.0224	0	0.0065	0.0192	0.0167	0.0002305	6	26028	rs560468327	0.0034	0.0034	0.0029	0.0038	0.0285	0.0033	0.0032	0.0269	0.0262	0.0285	0.0034	0.0094	0.0107	0.0001	0.0136	0.0013	0.0056	0.0155	0.0097	0.0097	0.0098	0.0096	0.0256	0.0093	0.0091	0.0244	0.0238	0.0256	0	0.0049	0.0095	0.0097	0	0.0140	0.0021	0.0101	0.0185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1112.05	34	chr4	15003254	.	A	AGCCGCC,AGCC	1112.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-1.420e-01;DP=783;ExcessHet=0.1072;FS=0.810;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=16.60;ReadPosRankSum=0.263;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:15,0,15:30:99:.:.:585,630,1212,0,582,537	19	0	1	0
chr4	36082273	36082273	C	T	exonic	ARAP2	.	nonsynonymous SNV	ARAP2:NM_015230:exon30:c.G4522A:p.A1508T,	.	.	.	.	.	.	.	.	.	.	.	2338588	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.924	P	0.207	B	0.000	D	0.998	N	1.79	L	1.54	T	-0.937	T	0.074	T	0.586	3.288	17.04	5.96	2.826	4.050	15.901	0.117	0.00538946994197	0.0003	0.000199681	0.0004	0.0001	9.271e-05	0.0001	0	0.0005	0	0.0006	0.0003752	58	154602	rs141152965	0.0005	0.0006	0.0006	0.0005	0.0010	0.0005	0.0005	0.0006	0.0006	0.0001	0.0002	0	0	3.752e-05	0.0010	0.0006	0.0005	0.0006	0.0003	0.0003	0.0005	0.0002	0.0006	0.0003	0.0002	0.0005	0.0004	9.643e-05	0	6.561e-05	0	0.0004	0	0	0.0006	0.0005	0.0004	0.231	0.18246	T	0.191	0.28391	T	0.924	0.51285	P	0.207	0.37187	B	0.000056	0.53742	D	0.125719	0.997692	0.22549	N	2.075	0.57047	M	1.54	0.30133	T	-1.01	0.26639	N	0.546	0.57263	-0.9374	0.43025	T	0.074	0.29960	T	10	0.078894794	0.12630	T	0.005389	0.13832	T	0.117	0.32689	.	.	0.32082282376	0.31691	0.2867408789550032	0.28587	0.0288828046489	0.02972	0.529231250286	0.42926	T	0.177995	0.52849	T	-0.361284	0.04058	T	-0.390294	0.34516	T	0.130667992027455	0.15444	T	0.889511	0.62800	D	0.1324498	0.30841	0.12001981	0.28967	0.1324498	0.30840	0.12001981	0.28966	-5.94	0.45775	T	.	.	0.215	0.48177	B	.;.	.;.	4.335655	0.66470	25.0	0.99665323044157905	0.78202	0.73378	0.35894	D	AEFBI	0.256651	0.37553	N	0.330465135050144	0.57718	3.940291	0.367643179085011	0.59579	4.136799	0.999928269726338	0.46280	0.487112	0.14033	0	0.546412	0.12157	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	5.96	0.96695	4.120000	0.57646	7.683000	0.65396	0.530000	0.24713	0.670000	0.28348	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.901	0.79162	781	0.47532	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	1024.98	34	chr4	36082273	.	C	T	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.521;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.296;SOR=0.699	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1039,0,1029	20	0	1	0
chr4	36229139	36229139	G	C	exonic	ARAP2	.	nonsynonymous SNV	ARAP2:NM_015230:exon2:c.C348G:p.S116R,	.	.	430	1045	44	3	0	50	0.0233645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.744	P	0.289	B	0.152	N	1.000	N	0.695	N	-0.16	T	-0.990	T	0.104	T	0.119	0.584	7.151	3.86	1.370	0.301	9.748	0.086	.	0.0031	0.00399361	0.0063	0.0010	0.0010	0	0.0074	0.0058	0.0154	0.0179	0.0058925	911	154602	rs34482185	0.0060	0.0060	0.0054	0.0067	0.0184	0.0059	0.0059	0.0176	0.0173	0.0008	0.0016	0.0134	2.519e-05	0.0095	0.0092	0.0053	0.0064	0.0184	0.0046	0.0046	0.0044	0.0048	0.0156	0.0043	0.0042	0.0127	0.0117	0.0007	0	0.0014	0.0161	0	0.0128	0.0034	0.0055	0.0047	0.0156	0.016	0.51853	D	0.29	0.21011	T	0.475	0.36638	P	0.188	0.36237	B	0.152104	0.17933	N	0.570963	1	0.08975	N	2.125	0.59049	M	-0.16	0.65378	T	-0.85	0.23156	N	0.199	0.21969	-0.9897	0.32677	T	0.104	0.38243	T	10	0.0038110316	0.00072	T	.	.	.	0.086	0.25016	0.116	0.02439	0.388495093706	0.38465	0.2546789361809776	0.25381	0.0264438352101	0.02702	0.278621405363	0.07301	T	0.010713	0.09649	T	-0.50069	0.00567	T	-0.477046	0.24761	T	0.00423517355016059	0.00045	T	0.608739	0.23025	T	0.09569906	0.22528	0.13272984	0.31843	0.09569906	0.22527	0.13272984	0.31842	-5.549	0.42324	T	.	.	0.140	0.30765	B	.	.	0.661489	0.10298	7.031	0.97686457425309436	0.35346	0.14229	0.18292	N	AEFGBI	0.059383	0.11212	N	-0.491741756843137	0.22351	1.192846	-0.539032563047357	0.21097	1.139682	0.999906336411245	0.45458	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.6	3.86	0.43689	0.504000	0.22335	0.387000	0.17845	0.672000	0.70159	0.007000	0.17678	0.000000	0.08366	0.018000	0.11154	0.1604:0.0:0.8396:0.0	9.748	0.39629	726	0.54788	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1707.98	35	chr4	36229139	.	G	C	1707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.630e-01;DP=857;ExcessHet=0.0000;FS=0.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.214;SOR=0.635	GT:AD:DP:GQ:PL	0/1:78,69:147:99:1722,0,2110	20	0	1	0
chr4	38827207	38827207	G	A	exonic	TLR6	.	nonsynonymous SNV	TLR6:NM_006068:exon2:c.C2267T:p.T756M,	.	.	424	1017	74	7	0	88	0.0414703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.153	B	0.104	B	0.497	N	1.000	N	0.205	N	-1.71	D	-0.791	T	0.226	T	0.035	0.020	4.117	2.33	0.302	0.322	5.462	0.179	.	0.0077	0.00958466	0.0115	0.0018	0.0068	0.0002	0.0027	0.0112	0.0231	0.0308	0.0109313	1690	154602	rs5743820	0.0094	0.0094	0.0082	0.0105	0.0548	0.0092	0.0092	0.0498	0.0479	0.0028	0.0080	0.0265	0.0001	0.0021	0.0548	0.0077	0.0119	0.0326	0.0078	0.0078	0.0077	0.0078	0.0267	0.0074	0.0072	0.0230	0.0216	0.0030	0.0011	0.0086	0.0286	0	0.0031	0.0816	0.0089	0.0166	0.0267	0.033	0.44358	D	0.015	0.70582	D	0.153	0.28093	B	0.104	0.31021	B	0.497084	0.11992	N	0.750305	1	0.08975	N	0	0.06538	N	-1.71	0.83157	D	-1.13	0.29114	N	0.03	0.07398	-0.7909	0.55677	T	0.226	0.59121	T	10	0.0028704405	0.00046	T	.	.	.	0.179	0.44899	.	.	.	.	0.1746402654636805	0.17383	0.193594903952	0.21691	0.278119981289	0.07232	T	0.058549	0.30873	T	-0.534823	0.00360	T	-0.518016	0.20495	T	0.00559374194311265	0.00061	T	0.29847	0.15517	T	0.03610745	0.04378	0.04778994	0.06959	0.03610745	0.04378	0.04778994	0.06958	-5.872	0.46737	T	.	.	0.086	0.10931	B	.;.;.	.;.;.	1.386434	0.17983	13.48	0.97477809307597563	0.34172	0.21857	0.21548	N	AEFBCI	0.204685	0.33110	N	-1.35961097335748	0.03026	0.1345516	-1.34051892723374	0.03918	0.1837954	0.181631973287945	0.17880	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.94	2.33	0.27981	0.841000	0.27267	1.795000	0.28833	-2.553000	0.00247	0.000000	0.06391	0.007000	0.19602	0.002000	0.04165	0.2233:0.0:0.6384:0.1383	5.462	0.15915	674	0.60593	Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	4307.68	99	chr4	38827207	.	G	A	4307.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.701;DP=920;ExcessHet=0.3300;FS=0.935;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=15.33;ReadPosRankSum=-2.360e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1132,0,1207	18	0	3	0
chr4	48551524	48551524	T	A	exonic	FRYL	.	nonsynonymous SNV	FRYL:NM_015030:exon37:c.A4490T:p.N1497I,	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.09	B	0.139	B	0.016	N	1.000	D	0.345	N	1.86	T	-1.098	T	0.083	T	0.212	1.196	9.859	0.472	0.083	-0.005	5.769	0.026	0.0288995810983	0.0019	0.000599042	0.0014	0.0008	8.646e-05	0	0	0.0021	0.0011	0.0010	0.0015006	232	154602	rs190941081	0.0029	0.0030	0.0031	0.0028	0.0036	0.0029	0.0028	0.0035	0.0034	0.0004	0.0004	3.83e-05	0	0.0001	0.0003	0.0036	0.0030	0.0013	0.0017	0.0017	0.0018	0.0015	0.0032	0.0015	0.0014	0.0028	0.0027	0.0005	0	0.0007	0	0	9.422e-05	0	0.0032	0.0014	0.0008	0.013	0.54683	D	0.029	0.54541	D	0.041	0.21357	B	0.051	0.25434	B	0.016449	0.27975	N	0.432595	1	0.81001	D	1.245	0.31408	L	1.86	0.43672	T	-2.14	0.56301	N	0.335	0.43223	-1.0976	0.04394	T	0.083	0.32642	T	10	0.006642282	0.00150	T	0.029	0.51501	D	0.026	0.05648	.	.	0.082315109003	0.07666	0.36760052366286494	0.36674	0.317509848706	0.33995	0.293152570724	0.09383	T	0.041994	0.30351	T	-0.539444	0.00338	T	-0.548171	0.17501	T	0.00733656859589523	0.00084	T	0.743726	0.36333	T	0.13688141	0.31716	0.08163126	0.18567	0.13688141	0.31715	0.08163126	0.18567	-3.168	0.12094	T	.	.	0.074	0.08705	B	.;.;.	.;.;.	0.848980	0.12210	8.756	0.96707101073293611	0.30795	0.94897	0.62709	D	AEFDBIJ	0.303260	0.41128	N	-0.510454599053876	0.21742	1.156019	-0.548048858230182	0.20858	1.125689	0.997614102880942	0.35820	0.744818	0.98587	0	0.708844	0.79440	0	0.658983	0.55881	0	0.76194	0.99817	0	.	.	5.62	0.472	0.15969	-0.258000	0.08754	-0.704000	0.07781	0.609000	0.47794	0.504000	0.26986	0.000000	0.08366	0.275000	0.23893	0.0:0.3035:0.1364:0.5601	5.769	0.17509	130	0.94779	.;.;.	.	.	.	.	.	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	1704.98	34	chr4	48551524	.	T	A	1704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.100e-01;DP=813;ExcessHet=0.0000;FS=2.336;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=0.092;SOR=0.528	GT:AD:DP:GQ:PL	0/1:52,71:123:99:1719,0,1171	20	0	1	0
chr4	53481842	53481842	G	A	exonic	LNX1	.	nonsynonymous SNV	LNX1:NM_032622:exon6:c.C1075T:p.R359C	.	.	421	1051	49	1	0	51	0.0236879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.539	P	0.105	B	0.000	D	1.000	D	1.875	L	1.66	T	-1.104	T	0.058	T	0.279	0.971	8.964	3.19	0.668	3.416	7.047	0.096	.	0.0015	0.00439297	0.0049	0.0003	0.0023	0.0002	0	0.0024	0.0024	0.0285	0.004269	660	154602	rs116172001	0.0028	0.0028	0.0021	0.0036	0.0251	0.0027	0.0027	0.0242	0.0238	0.0003	0.0015	0.0059	0.0001	0.0002	0.0143	0.0013	0.0037	0.0251	0.0019	0.0019	0.0016	0.0022	0.0257	0.0017	0.0016	0.0220	0.0206	0.0002	0	0.0008	0.0069	0.0006	0.0002	0.0102	0.0015	0.0033	0.0257	0.046	0.46910	D	0.104	0.39954	T	0.539	0.37887	P	0.105	0.31087	B	0.000295	0.46274	D	0.225845	1	0.81001	D	1.63	0.41750	L	1.66	0.27486	T	-4.73	0.80767	D	0.432	0.47115	-1.1036	0.03683	T	0.058	0.24204	T	10	0.01123631	0.00246	T	.	.	.	0.096	0.27654	.	.	0.546217525997	0.54276	0.4752584774970142	0.47444	0.423205552803	0.42792	0.447529733181	0.31607	T	0.228087	0.59354	T	-0.49627	0.00600	T	-0.46738	0.25800	T	0.0415929108249104	0.03980	T	0.90031	0.65351	D	0.19297038	0.40988	0.16346437	0.37918	0.19297038	0.40987	0.16346437	0.37918	-12.214	0.85878	D	.	.	0.105	0.19357	B	.;.	.;.	3.751756	0.53785	23.4	0.98007074674155337	0.37521	0.89332	0.49733	D	AEFDBI	0.394525	0.47175	N	-0.222784782840169	0.32199	1.813438	-0.192843332856844	0.31798	1.802972	0.99824575610858	0.36633	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.567892	0.33627	0	.	.	4.91	3.19	0.35720	2.918000	0.48526	4.018000	0.41224	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.044000	0.14658	0.1514:0.1406:0.708:0.0	7.047	0.24227	418	0.81602	.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1187.11	28	chr4	53481842	.	G	A	1187.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.957;DP=729;ExcessHet=0.1072;FS=2.819;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=0.483;SOR=0.445	GT:AD:DP:GQ:PL	0/1:23,28:51:99:642,0,526	19	0	2	0
chr4	56313237	56313237	C	T	exonic	CRACD	.	nonsynonymous SNV	CRACD:NM_020722:exon7:c.C395T:p.S132F,	.	.	430	1088	3	1	0	5	0.00229253	.	.	3242469	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	.	.	1.000	D	2.39	M	2.32	T	-0.831	T	0.162	T	0.677	4.248	22.1	5.37	2.518	4.543	19.107	0.213	0.025375443972	.	0.000199681	0.0002	0	0.0002	0	0	4.5e-05	0	0.0012	0.0001617	25	154602	rs562669866	0.0001	0.0001	7.214e-05	0.0002	0.0016	0.0001	0.0001	0.0013	0.0013	0	6.708e-05	0	0	0	0.0007	5.036e-05	0.0002	0.0016	8.535e-05	8.53e-05	7.709e-05	9.398e-05	0.0015	4.953e-05	3.96e-05	0.0007	0.0005	0	0	6.536e-05	0	0	0	0	5.879e-05	0.0005	0.0015	0.001	0.78490	D	0.008	0.67890	D	1.0	0.90584	D	0.988	0.77976	D	.	.	.	.	0.999963	0.52935	D	2.71	0.79292	M	2.32	0.20122	T	-4.66	0.79482	D	0.533	0.70263	-0.8306	0.53263	T	0.162	0.49781	T	9	0.04098326	0.02713	T	0.025375	0.48351	D	0.213	0.50496	0.294	0.25720	0.419713421852	0.41588	0.34044394730397987	0.33957	1.01061259862	0.74754	0.512296557426	0.40543	T	0.103	0.51290	T	-0.258007	0.13134	T	-0.188938	0.55689	T	0.279984670019244	0.24171	T	0.883312	0.60567	D	0.59319025	0.72323	0.6231493	0.78040	0.59319025	0.72325	0.6231493	0.78041	-11.727	0.83497	D	.	.	0.222	0.48603	B	.;.;.;.;.	.;.;.;.;.	4.456122	0.69317	25.4	0.99738496537946264	0.83337	0.98961	0.89215	D	AEFDBI	0.735383	0.68122	D	0.754657953260534	0.83208	7.957497	0.721237978563622	0.83992	8.169375	0.99999999917722	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.37	5.37	0.76949	4.613000	0.60880	7.633000	0.62825	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.107	0.93284	283	0.88803	Domain of unknown function DUF4592;Domain of unknown function DUF4592;Domain of unknown function DUF4592;Domain of unknown function DUF4592;Domain of unknown function DUF4592	.	.	.	.	.	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	1939.98	33	chr4	56313237	.	C	T	1939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.226;DP=840;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.59;ReadPosRankSum=1.37;SOR=0.652	GT:AD:DP:GQ:PL	0/1:54,79:133:99:1954,0,1205	20	0	1	0
chr4	68064747	68064747	G	A	exonic	TMPRSS11F	.	nonsynonymous SNV	TMPRSS11F:NM_207407:exon8:c.C953T:p.S318F,	.	.	433	1072	17	0	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.919	P	0.407	B	0.004	N	0.992	D	0.835	L	-2.55	D	-0.007	T	0.429	T	0.13	2.642	14.79	4.0	1.488	1.369	12.357	0.374	.	0.0082	0.00259585	0.0086	0.0013	0.0022	0	0.0089	0.0136	0.0055	0.0024	0.0085445	1321	154602	rs143544573	0.0088	0.0088	0.0088	0.0088	0.0104	0.0087	0.0086	0.0102	0.0102	0.0012	0.0028	0.0039	5.04e-05	0.0076	0.0071	0.0104	0.0072	0.0018	0.0069	0.0069	0.0071	0.0067	0.0113	0.0065	0.0064	0.0107	0.0104	0.0016	0	0.0056	0.0035	0.0002	0.0076	0	0.0113	0.0104	0.0014	0.001	0.78490	D	0.002	0.79402	D	0.919	0.50927	P	0.407	0.44712	B	0.003800	0.34487	N	0.207319	0.992056	0.41543	D	1.565	0.39561	L	-2.55	0.89561	D	-4.65	0.79399	D	0.247	0.27910	-0.0072	0.82107	T	0.429	0.77120	T	10	0.0052728355	0.00115	T	.	.	.	0.374	0.69273	.	.	0.860412130432	0.85906	0.6030460757054907	0.60235	0.0744376115572	0.08353	0.428454965353	0.28998	T	0.344002	0.71257	T	-0.38425	0.02928	T	-0.311099	0.43541	T	0.059439575268213	0.07080	T	0.727827	0.34232	T	0.44317266	0.63607	0.4944546	0.70761	0.44317266	0.63607	0.4944546	0.70762	-7.215	0.55589	T	.	.	0.120	0.24666	B	.	.	1.890388	0.24013	16.24	0.99747241083990501	0.84002	0.76726	0.37653	D	AEFI	0.169536	0.29637	N	0.156847973713837	0.49137	3.117465	0.204558714955639	0.50100	3.205632	1.28248467279848E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	4.0	0.45673	1.089000	0.30501	.	.	0.676000	0.76740	0.308000	0.25396	0.972000	0.29809	0.913000	0.44837	0.0:0.0:0.6819:0.3181	12.357	0.54509	931	0.16308	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2399.11	38	chr4	68064747	.	G	A	2399.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.555;DP=884;ExcessHet=0.1072;FS=0.515;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.493;SOR=0.618	GT:AD:DP:GQ:PL	0/1:63,49:112:99:1243,0,1706	19	0	2	0
chr4	70688902	70688902	-	GAG	exonic	UTP3	.	nonframeshift insertion	UTP3:NM_020368:exon1:c.225_226insGAG:p.E81_V82insE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0003	0.0001	0.0002	0	0	0.0004	0	0	0.0001876	29	154602	rs781599293	0.0005	0.0005	0.0005	0.0005	0.0007	0.0005	0.0004	0.0005	0.0005	0.0003	0.0002	3.835e-05	7.565e-05	1.874e-05	0.0007	0.0006	0.0004	3.488e-05	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0	0	0	0	9.625e-05	0.0034	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1497.94	38	chr4	70688902	.	C	CGAG	1497.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=810;ExcessHet=0.0000;FS=0.882;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.49;ReadPosRankSum=-3.780e-01;SOR=0.877	GT:AD:DP:GQ:PL	0/1:41,40:81:99:1512,0,1603	20	0	1	0
chr4	76741208	76741208	C	A	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon5:c.C3035A:p.T1012N,	.	.	416	1072	30	4	0	38	0.0174152	.	.	1195967	SHROOM3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.984	D	0.773	P	0.042	N	1.000	N	2.705	M	0.34	T	-0.855	T	0.143	T	0.186	1.623	11.39	0.952	-0.166	3.059	5.749	0.164	.	0.0053	0.00399361	0.0108	0.0029	0.0116	0	0.0073	0.0157	0.0091	0.0025	0.0058085	898	154602	rs147732653	0.0079	0.0079	0.0079	0.0078	0.0182	0.0078	0.0077	0.0154	0.0143	0.0022	0.0061	0.0106	2.538e-05	0.0035	0.0182	0.0089	0.0076	0.0027	0.0069	0.0069	0.0072	0.0065	0.0102	0.0065	0.0064	0.0096	0.0093	0.0019	0.0910	0.0062	0.0101	0	0.0029	0.0068	0.0102	0.0057	0.0031	0.001	0.78490	D	0.012	0.63918	D	0.984	0.60733	D	0.773	0.56974	P	0.041546	0.23937	N	0.340109	0.999994	0.08975	N	3.185	0.88900	M	0.34	0.58176	T	-3.84	0.72240	D	0.192	0.21056	-0.8547	0.51641	T	0.143	0.46404	T	10	0.0043590963	0.00089	T	.	.	.	0.164	0.42212	.	.	0.637225044583	0.63424	0.512869637631478	0.51208	0.411460119026	0.41898	0.801779985428	0.82234	T	0.488677	0.81421	T	-0.414511	0.01856	T	-0.358798	0.38191	T	0.0948631797115012	0.11782	T	0.668933	0.27951	T	0.53986067	0.69389	0.3622313	0.61632	0.53986067	0.69390	0.3622313	0.61632	-10.292	0.75642	D	.	.	0.202	0.42606	B	.;.	.;.	2.691383	0.35134	19.82	0.95082975117599788	0.26136	0.89839	0.50567	D	AEFDBI	0.232881	0.35589	N	0.056243779734306	0.44431	2.717215	-0.150118930678099	0.33403	1.910418	0.999976932169537	0.50053	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.74	0.952	0.18708	3.170000	0.50516	1.998000	0.30109	0.522000	0.23927	0.991000	0.37257	0.959000	0.29258	0.798000	0.37648	0.136:0.6392:0.0:0.2248	5.749	0.17404	583	0.69484	Apx/Shrm Domain 1|Apx/Shrm Domain 1;Apx/Shrm Domain 1|Apx/Shrm Domain 1	.	.	.	.	rs147732653	Likely benign	0	0	0	0	0	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	1381.98	43	chr4	76741208	.	C	A	1381.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.90;DP=955;ExcessHet=0.0000;FS=2.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.88;ReadPosRankSum=3.16;SOR=1.029	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1396,0,1074	20	0	1	0
chr4	78912028	78912028	C	T	exonic	BMP2K	.	stopgain	BMP2K:NM_198892:exon16:c.C3481T:p.Q1161X,	.	.	428	1064	29	0	1	30	0.0134446	.	.	215303	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.395	T	0.385	T	.	5.896	36	5.51	2.586	7.114	19.420	0.572	.	0.0024	0.000599042	0.0031	0.0006	0.0036	0	0.0002	0.0041	0.0048	0.0027	0.0027296	422	154602	rs138262352	0.0022	0.0022	0.0021	0.0024	0.0336	0.0022	0.0021	0.0297	0.0282	0.0008	0.0030	0.0255	0	0.0002	0.0336	0.0016	0.0044	0.0021	0.0021	0.0021	0.0022	0.0019	0.0022	0.0019	0.0018	0.0020	0.0018	0.0005	0	0.0014	0.0254	0	0.0003	0.0442	0.0022	0.0047	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.739903	0.06422	N	1.150280	0.894372	0.81001	D	.	.	.	.	.	.	.	.	.	0.224	0.25130	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238782	0.77546	D	0.566539	0.96104	D	0.0855147993546638	0.10677	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.353860	0.98814	40	0.99572507971229229	0.72501	0.98535	0.83821	D	AEFBCI	0.210611	0.33648	N	1.01349220129095	0.96145	14.35152	0.820984657983906	0.91211	10.77427	0.999999990763139	0.74766	0.634777	0.41761	0	0.577304	0.33150	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.51	5.51	0.81769	7.195000	0.77321	7.711000	0.66806	0.511000	0.23309	1.000000	0.71638	1.000000	0.68203	0.014000	0.10232	0.0:1.0:0.0:0.0	19.420	0.94711	553	0.71930	BMP-2-inducible protein kinase, C-terminal	.	.	.	.	.	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	1	0	0.02381	2506.98	34	chr4	78912028	.	C	T	2506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.361e+00;DP=913;ExcessHet=0.0000;FS=0.510;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=-6.700e-01;SOR=0.739	GT:AD:DP:GQ:PL	0/1:101,106:207:99:2521,0,2758	20	0	1	0
chr4	86784491	86784491	A	G	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_080684:exon35:c.A5478G:p.I1826M	.	.	5	1513	4	0	0	4	0.00132013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.308	B	0.193	B	0.177	N	1.000	N	0.69	N	0.77	T	-1.017	T	0.091	T	0.047	-0.619	1.248	-0.402	-0.211	-0.149	3.812	0.008	0.0128030466797	.	.	1.855e-05	0	0	0	0	3.341e-05	0	0	1.29e-05	2	154602	rs758069511	1.306e-05	1.3e-05	1.094e-05	1.52e-05	0.0005	8.35e-06	6.73e-06	0.0001	7.56e-05	0	0	0	0	1.874e-05	0.0005	8.11e-06	8.32e-05	1.18e-05	6.574e-06	6.566e-06	1.285e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.43708	D	0.053	0.47336	T	0.308	0.32740	B	0.193	0.36509	B	0.177255	0.03156	N	1.749480	1	0.08975	N	0.345	0.11182	N	0.66	0.52416	T	-0.55	0.16799	N	0.109	0.14622	-1.0166	0.24819	T	0.091	0.34847	T	10	0.049948543	0.04656	T	0.012803	0.31686	T	0.008	0.00669	0.154	0.05752	0.180583059064	0.17676	0.45129868153637265	0.45047	0.0605159012677	0.06728	0.30800190568	0.11605	T	0.083686	0.37110	T	-0.35597	0.04363	T	-0.685457	0.06655	T	0.0238005939937022	0.01120	T	0.851115	0.53499	D	0.04864847	0.08512	0.0525489	0.08678	0.04864847	0.08512	0.0525489	0.08678	-4.266	0.27697	T	.	.	0.089	0.19639	B	.;.;.;.;.	.;.;.;.;.	0.360671	0.07334	3.949	0.18488048481698152	0.00583	0.03065	0.07972	N	AEBI	0.051899	0.09214	N	-1.2885701379635	0.03812	0.17096	-1.33053698673032	0.04041	0.1897668	0.00241271301798474	0.09408	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.12	-0.402	0.11786	-0.269000	0.08626	0.751000	0.21237	-1.676000	0.00793	0.000000	0.06391	0.366000	0.24545	0.033000	0.13494	0.1527:0.2693:0.0:0.578	3.812	0.08316	852	0.35056	.;.;.;.;.	.	.	.	.	.	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	1780.98	35	chr4	86784491	.	A	G	1780.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=841;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=0.414;SOR=0.683	GT:AD:DP:GQ:PL	0/1:86,74:160:99:1795,0,2026	20	0	1	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	1|1:0,23,2:25:27:1|1:87615730_ATAG_A:1912,141,0,840,27,783:87615730	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	1|1:0,23,2:25:38:1|1:87615730_ATAG_A:1913,141,0,853,38,924:87615730	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	2|2:0,0,14:14:42:1|1:87615883_A_G:630,630,630,42,42,0:87615883	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	2|2:0,0,14:14:42:1|1:87615883_A_G:630,630,630,42,42,0:87615883	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	2|2:0,0,14:14:42:1|1:87615883_A_G:630,630,630,42,42,0:87615883	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	2|2:0,0,14:14:42:1|1:87615883_A_G:630,630,630,42,42,0:87615883	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	2|2:0,0,13:13:39:1|1:87615883_A_G:585,585,585,39,39,0:87615883	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	2|2:0,0,13:13:39:1|1:87615883_A_G:585,585,585,39,39,0:87615883	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	2|2:0,0,13:13:39:1|1:87615883_A_G:585,585,585,39,39,0:87615883	15	2	0	0
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	1|1:0,16,0:16:48:1|1:87615883_A_G:720,48,0,720,48,720:87615883	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	1|1:3,15,0:18:39:1|1:87615883_A_G:665,39,0,669,45,675:87615883	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	1|1:3,16,0:19:42:1|1:87615883_A_G:701,42,0,705,48,711:87615883	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	1|1:3,16,0:19:42:1|1:87615883_A_G:701,42,0,705,48,711:87615883	10	1	0	7
chr4	93829637	93829637	C	A	exonic	ATOH1	.	nonsynonymous SNV	ATOH1:NM_005172:exon1:c.C711A:p.H237Q,	.	.	425	1075	21	1	0	23	0.0105844	.	.	698688	ATOH1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.37	T	0.001	B	0.001	B	0.001	N	0.992	N	0.805	L	-4.35	D	-0.197	T	0.644	D	0.201	1.623	11.38	1.4	0.075	-0.940	4.598	0.325	.	0.0063	0.00399361	0.0071	0.0012	0.0087	0	0.0063	0.0094	0.0062	0.0037	0.0066817	1033	154602	rs35182771	0.0082	0.0082	0.0083	0.0082	0.0116	0.0081	0.0081	0.0098	0.0095	0.0014	0.0106	0.0011	0	0.0055	0.0116	0.0093	0.0074	0.0034	0.0066	0.0066	0.0063	0.0070	0.0127	0.0063	0.0062	0.0113	0.0107	0.0012	0.0044	0.0127	0.0017	0.0002	0.0039	0.0068	0.0100	0.0085	0.0031	0.002	0.72154	D	0.053	0.47336	T	0.001	0.07471	B	0.001	0.04355	B	0.001280	0.39594	N	0.208089	0.991875	0.23969	N	1.39	0.34934	L	-4.35	0.97292	D	-0.67	0.19297	N	0.132	0.12770	-0.1969	0.77751	T	0.644	0.87567	D	10	0.0044317245	0.00091	T	.	.	.	0.325	0.64725	0.09	0.01023	0.459478837667	0.45574	0.418617840931497	0.41777	0.612297111466	0.55827	0.617522954941	0.55378	T	0.236662	0.60418	T	-0.314767	0.07334	T	-0.211943	0.53509	T	0.00555091533502853	0.00060	T	0.427357	0.11519	T	0.121332094	0.28533	0.15615295	0.36572	0.121332094	0.28533	0.15615295	0.36571	-3.967	0.23308	T	.	.	0.112	0.21950	B	.	.	1.243424	0.16394	12.51	0.97474135352584845	0.34152	0.42687	0.26933	N	AEFBCI	0.094156	0.19042	N	-0.990739029818487	0.08800	0.4140448	-0.926947542374852	0.11459	0.583909	0.991395253971463	0.32474	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.06	1.4	0.21393	-0.611000	0.05718	0.170000	0.15507	-0.263000	0.06870	0.000000	0.06391	0.962000	0.29361	0.770000	0.36519	0.1507:0.5956:0.0:0.2538	4.598	0.11730	886	0.28090	.	BMPR1B-AS1	Brain_Anterior_cingulate_cortex_BA24	.	.	.	Likely benign	0	0	0	0	0	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	1689.98	41	chr4	93829637	.	C	A	1689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.73;DP=962;ExcessHet=0.0000;FS=1.421;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=-1.111e+00;SOR=0.537	GT:AD:DP:GQ:PL	0/1:72,60:132:99:1704,0,1755	20	0	1	0
chr4	94302198	94302198	A	G	exonic	HPGDS	.	nonsynonymous SNV	HPGDS:NM_014485:exon5:c.T383C:p.M128T,	.	.	435	1047	40	0	0	40	0.0187441	.	.	709531	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	0.013	B	0.07	B	0.022	N	0.768	N	0	N	4.43	T	-0.989	T	0.003	T	0.138	2.197	13.30	5.49	2.084	5.395	14.402	0.137	.	0.0074	0.00658946	0.0047	0.0127	0.0045	0.0001	0.0024	0.0043	0.0132	0.0044	0.0044954	695	154602	rs34124298	0.0032	0.0032	0.0031	0.0033	0.0432	0.0031	0.0031	0.0388	0.0371	0.0143	0.0056	0.0067	2.526e-05	0.0022	0.0432	0.0024	0.0056	0.0047	0.0065	0.0065	0.0062	0.0068	0.0127	0.0062	0.0061	0.0118	0.0114	0.0127	0	0.0087	0.0072	0.0002	0.0017	0.0544	0.0032	0.0156	0.0056	0.008	0.58626	D	0.03	0.54159	D	0.013	0.16609	B	0.07	0.27859	B	0.022287	0.26663	N	0.262459	0.767667	0.29471	N	0.14	0.08730	N	4.43	0.02158	T	-2.16	0.48850	N	0.509	0.54059	-0.9886	0.32953	T	0.003	0.01026	T	10	0.0071651638	0.00163	T	.	.	.	0.137	0.36984	.	.	0.195762928549	0.19159	0.6785771150250166	0.67796	0.0136227670334	0.01305	0.417279392481	0.27462	T	0.072961	0.34582	T	-0.550537	0.00289	T	-0.551908	0.17142	T	0.078524000242963	0.09797	T	0.70423	0.31438	T	0.71224767	0.78731	0.6873759	0.81612	0.71224767	0.78732	0.6873759	0.81613	-6.636	0.51327	T	.	.	0.597	0.68735	P	.	.	3.770089	0.54150	23.5	0.98240332546882192	0.39476	0.95083	0.63375	D	AEFDIJ	0.625085	0.60841	D	-0.152657908466863	0.35122	2.013369	0.061273277222279	0.42620	2.581076	0.999999937179927	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.49	5.49	0.81022	5.755000	0.68406	11.128000	0.86723	0.756000	0.94297	0.997000	0.40164	1.000000	0.68203	0.952000	0.50033	1.0:0.0:0.0:0.0	14.402	0.66626	856	0.34373	Glutathione S-transferase, C-terminal|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	1252.98	33	chr4	94302198	.	A	G	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.820e-01;DP=800;ExcessHet=0.0000;FS=1.484;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=0.255;SOR=0.542	GT:AD:DP:GQ:PL	0/1:59,56:115:99:1267,0,1426	20	0	1	0
chr4	94308699	94308699	T	C	exonic	HPGDS	.	nonsynonymous SNV	HPGDS:NM_014485:exon4:c.A271G:p.I91V,	.	.	431	1052	38	1	0	40	0.0186567	.	.	709532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.001	B	0.095	N	1.000	N	0.895	L	4.42	T	-0.899	T	0.001	T	0.057	0.751	7.982	-0.922	-0.145	0.306	5.485	0.065	.	0.0099	0.00898562	0.0053	0.0196	0.0048	0	0.0024	0.0043	0.0121	0.0044	0.0051875	802	154602	rs61752528	0.0034	0.0034	0.0033	0.0034	0.0446	0.0033	0.0033	0.0401	0.0383	0.0223	0.0057	0.0067	2.53e-05	0.0022	0.0446	0.0024	0.0062	0.0047	0.0086	0.0087	0.0084	0.0089	0.0199	0.0082	0.0081	0.0187	0.0183	0.0199	0	0.0095	0.0072	0	0.0017	0.0544	0.0033	0.0170	0.0056	0.301	0.14449	T	0.368	0.16570	T	0.0	0.02946	B	0.001	0.04355	B	0.094540	0.20168	N	0.495251	1	0.08975	N	1.135	0.28956	L	4.42	0.02177	T	-0.35	0.12847	N	0.269	0.30461	-0.8993	0.48064	T	0.001	0.00438	T	10	0.008059353	0.00183	T	.	.	.	0.065	0.18881	.	.	0.0762999501168	0.06990	0.40017604339616514	0.39932	0.00903241899957	0.00816	0.283205896616	0.07943	T	0.045405	0.27111	T	-0.726177	0.00025	T	-0.798959	0.01929	T	0.000171278209201209	0.00001	T	0.685431	0.29402	T	0.08271221	0.19066	0.053289402	0.08947	0.08271221	0.19066	0.053289402	0.08946	-3.971	0.23368	T	.	.	0.077	0.06250	B	.	.	0.760583	0.11303	7.926	0.74893722661542117	0.10867	0.05650	0.11563	N	AEFI	0.063106	0.12172	N	-0.903011566583042	0.10771	0.5163775	-0.869607243925074	0.12817	0.6615129	0.744778617640696	0.23268	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.43	-0.922	0.09936	0.342000	0.19669	-0.548000	0.08544	0.587000	0.30956	0.506000	0.27002	0.000000	0.08366	0.984000	0.60418	0.1575:0.4554:0.0:0.3871	5.485	0.16038	840	0.37365	Glutathione S-transferase, C-terminal-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	1020.98	33	chr4	94308699	.	T	C	1020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=795;ExcessHet=0.0000;FS=1.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=-9.570e-01;SOR=0.913	GT:AD:DP:GQ:PL	0/1:51,43:94:99:1035,0,1216	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	0/1:106,43:173:99:177,0,1768	2	0	18	1
chr4	99420769	99420769	C	T	exonic	ADH7	.	nonsynonymous SNV	ADH7:NM_000673:exon6:c.G625A:p.V209I	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.734	P	0.116	B	0.000	D	1.000	D	1.945	M	1.54	T	-1.095	T	0.051	T	0.283	1.859	12.18	2.93	1.935	1.179	8.328	0.117	0.0025705988209	7.7e-05	.	7.466e-05	0.0002	0	0.0001	0	9.047e-05	0	0	8.41e-05	13	154602	rs377699817	0.0001	0.0001	0.0001	9.49e-05	0.0005	9.051e-05	8.534e-05	0.0001	0.0001	8.966e-05	0	0	7.558e-05	0	0.0005	0.0001	6.625e-05	1.159e-05	5.912e-05	5.906e-05	6.426e-05	5.374e-05	9.626e-05	3.076e-05	2.209e-05	3.243e-05	1.911e-05	9.626e-05	0	0	0	0	0	0	7.352e-05	0	0	0.209	0.19710	T	0.408	0.16619	T	0.734	0.42776	P	0.116	0.31939	B	0.000000	0.84330	D	0.000000	0.999647	0.51968	D	1.955	0.52871	M	1.54	0.30133	T	-0.63	0.18459	N	0.222	0.24883	-1.0954	0.04695	T	0.051	0.21611	T	10	0.18441615	0.33814	T	0.002571	0.05178	T	0.117	0.32689	.	.	0.213573922156	0.20996	0.3190842190472521	0.31821	0.143767449936	0.16234	0.313936144114	0.12502	T	0.086749	0.37793	T	-0.40375	0.02188	T	-0.538301	0.18463	T	0.0737037745330752	0.09161	T	0.782222	0.41780	T	0.1143288	0.26992	0.08647369	0.20036	0.1143288	0.26992	0.08647369	0.20036	-5.296	0.40948	T	.	.	0.100	0.18869	B	.;.;.;.	.;.;.;.	2.096652	0.26672	17.20	0.9819945657012904	0.39105	0.70288	0.34529	D	AEFI	0.138623	0.25997	N	-0.26490971178167	0.30513	1.702061	-0.308105768584674	0.27835	1.547466	3.86967251927081E-4	0.06781	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.8	2.93	0.33092	0.945000	0.28654	0.619000	0.20111	-0.171000	0.11205	0.335000	0.25632	0.049000	0.21787	0.786000	0.37147	0.0:0.7419:0.0:0.2581	8.328	0.31330	929	0.16858	.;.;.;.	.	.	.	.	.	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	1534.98	40	chr4	99420769	.	C	T	1534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.22;DP=845;ExcessHet=0.0000;FS=1.796;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.50;ReadPosRankSum=-1.074e+00;SOR=0.931	GT:AD:DP:GQ:PL	0/1:44,55:99:99:1549,0,1012	20	0	1	0
chr4	108889244	108889244	C	G	exonic	COL25A1	.	nonsynonymous SNV	COL25A1:NM_001256074:exon16:c.G940C:p.E314Q	Fibrosis of extraocular muscles, congenital, 5, Autosomal recessive	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996	D	0.986	D	0.000	D	0.804	D	0.99	L	1.84	T	-0.971	T	0.117	T	0.38	3.567	18.18	5.64	2.660	5.773	18.672	0.150	0.0185163256039	.	.	0.0003	0	8.651e-05	0.0017	0	0.0002	0	0	0.0002135	33	154602	rs202026836	0.0001	0.0001	0.0001	0.0001	0.0013	8.985e-05	8.468e-05	0.0010	0.0009	0	0	0.0011	0.0013	1.872e-05	0.0002	4.318e-05	0.0003	6.958e-05	7.227e-05	7.218e-05	0.0001	4.031e-05	0.0010	3.971e-05	3.127e-05	0.0004	0.0002	0	0	0	0.0006	0.0010	0	0	5.883e-05	0	0	0.592	0.26519	T	0.575	0.14725	T	0.924	0.68779	P	0.706	0.76916	P	0.000008	0.62929	D	0.062827	0.804483	0.34555	D	1.185	0.30054	L	1.84	0.24656	T	-1.35	0.33598	N	0.402	0.48504	-0.9707	0.37052	T	0.117	0.41165	T	9	0.062003434	0.07861	T	0.018516	0.40611	T	0.150	0.39571	0.319	0.29741	0.785142519441	0.78315	0.6013103194375976	0.60062	1.00295307303	0.74474	0.673310518265	0.63310	T	0.028298	0.74793	T	-0.423154	0.01633	T	-0.405236	0.32777	T	0.123119649304905	0.14732	T	0.945205	0.79148	D	0.20698465	0.42890	0.144906	0.34387	0.20698465	0.42890	0.144906	0.34386	-6.4	0.49509	T	0.19707651206488025	0.26052	0.207	0.43666	B	.;.;.;.;.;.	.;.;.;.;.;.	4.280801	0.65203	24.8	0.99756916455641631	0.84694	0.97931	0.78218	D	AEFBI	0.805554	0.73011	D	0.554458165547455	0.70355	5.489226	0.606948454231074	0.75442	6.311505	0.999999999882753	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.64	5.64	0.86480	5.098000	0.64382	7.711000	0.66806	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.672	0.91474	763	0.50172	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	878.98	33	chr4	108889244	.	C	G	878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=749;ExcessHet=0.0000;FS=4.642;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-1.220e+00;SOR=1.352	GT:AD:DP:GQ:PL	0/1:40,33:73:99:893,0,1031	20	0	1	0
chr4	125451034	125451034	A	C	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon10:c.A10024C:p.N3342H	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	.	416	1104	2	0	0	2	0.000904977	.	.	1190153	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.963	D	0.663	P	0.003	U	1.000	N	-0.08	N	0.72	T	-1.057	T	0.078	T	0.192	1.389	10.57	1.75	0.357	3.695	5.619	0.136	0.0296691248183	.	.	4.128e-05	9.748e-05	8.643e-05	0	0	4.501e-05	0	0	3.88e-05	6	154602	rs772182074	5.199e-05	5.199e-05	5.581e-05	4.813e-05	0.0017	4.258e-05	3.888e-05	0.0009	0.0007	0	0.0001	3.826e-05	0	0	0.0017	4.766e-05	4.968e-05	4.637e-05	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.011	0.55530	D	0.023	0.57104	D	0.948	0.53620	P	0.663	0.52893	P	0.002537	0.36389	U	0.000000	0.999997	0.08975	N	0.385	0.12166	N	0.72	0.50976	T	-2.18	0.49187	N	0.32	0.40364	-1.0572	0.12465	T	0.078	0.30982	T	10	0.2959405	0.47161	T	0.029669	0.52133	D	0.136	0.36778	0.641	0.77795	0.265735104816	0.26182	0.2442197253378193	0.24335	0.419640191628	0.42511	0.276857018471	0.07059	T	0.341067	0.71001	T	-0.29266	0.09371	T	-0.476634	0.24805	T	0.25275182723999	0.22996	T	0.836716	0.50835	T	0.05806631	0.11635	0.054728124	0.09468	0.05806631	0.11634	0.054728124	0.09468	-5.673	0.44163	T	.	.	0.080	0.07650	B	.;.	.;.	2.517420	0.32523	19.07	0.9901376813529299	0.50420	0.66562	0.33122	D	AEFBI	0.215979	0.34128	N	-0.264004418281061	0.30547	1.704391	-0.329957664756686	0.27136	1.503672	0.0125812159060634	0.12348	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.42	1.75	0.23707	3.696000	0.54489	1.245000	0.25132	0.756000	0.94297	0.632000	0.28016	0.000000	0.08366	0.500000	0.29017	0.685:0.1539:0.1611:0.0	5.619	0.16729	922	0.19044	Cadherin-like|Cadherin-like;.	.	.	.	.	.	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	2378.98	144	chr4	125451034	.	A	C	2378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.83;DP=2398;ExcessHet=0.0000;FS=2.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-6.690e-01;SOR=0.947	GT:AD:DP:GQ:PL	0/1:86,86:172:99:2393,0,2172	20	0	1	0
chr4	134199956	134199956	C	T	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G1064A:p.R355H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226665779072	0.0004	0.000399361	0.0001	0.0009	0	0	0	0	0	0	2.59e-05	4	154602	rs373992035	1.929e-05	2.052e-05	1.833e-05	2.028e-05	0.0005	1.321e-05	1.133e-05	0.0003	0.0002	0.0005	0.0003	0	0	0	0	9.268e-07	1.724e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	0.224	0.25591	T	0.998	0.73220	D	0.88	0.62516	P	.	.	.	.	0.991522	0.41409	D	0.285	0.10073	N	2.32	0.16640	T	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	0.05079794	0.04867	T	0.022667	0.45580	T	.	.	.	.	0.51469891142	0.51112	0.6826217229310281	0.68201	.	.	0.299932777882	0.10391	T	0.027708	0.20231	T	-0.407889	0.02053	T	-0.442953	0.28477	T	.	.	.	0.886911	0.61435	D	0.039127454	0.05343	0.10066907	0.24077	0.039127454	0.05343	0.10066907	0.24077	-5.902	0.45453	T	.	.	0.091	0.13080	B	.	.	3.358538	0.46356	22.3	0.7332315674579476	0.10286	0.91001	0.52667	D	AEFDBI	0.409572	0.48080	N	.	.	.	.	.	.	0.999999733153597	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.18	2.46	0.29032	3.201000	0.50761	-0.019000	0.12951	-0.285000	0.06363	0.995000	0.38783	0.000000	0.08366	0.848000	0.40082	0.0:0.8086:0.0:0.1914	8.564	0.32688	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	729.72	57	chr4	134199956	.	C	T	729.72	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-2.043e+00;DP=1459;ExcessHet=4.7172;FS=120.348;InbreedingCoeff=-0.3900;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=-2.920e-01;SOR=8.830	GT:AD:DP:GQ:PL	0/1:56,20:76:58:58,0,946	7	0	9	5
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	1/1:0,85,0:85:99:3826,256,0,3826,256,3826	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	1/1:0,85,0:85:99:3826,256,0,3826,256,3826	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	0/1:55,36:91:99:.:.:503,0,1584	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	0/1:55,23:83:99:.:.:454,0,1612	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	1/1:0,154,0:154:99:.:.:5166,463,0,5166,463,5166	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	0/1:27,29,0,0,0:56:99:1018,0,942,1100,1029,2129,1100,1029,2129,2129,1100,1029,2129,2129,2129	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	0/1:27,29,0,0,0:56:99:1018,0,942,1100,1029,2129,1100,1029,2129,2129,1100,1029,2129,2129,2129	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	0/1:27,29,0,0,0:56:99:1018,0,942,1100,1029,2129,1100,1029,2129,2129,1100,1029,2129,2129,2129	0	10	4	0
chr4	148436413	148436413	G	A	exonic	NR3C2	.	nonsynonymous SNV	NR3C2:NM_000901:exon2:c.C448T:p.R150C	Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy;Pseudohypoaldosteronism type I, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3159506	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.002	B	0.001	B	0.385	N	1.000	N	0.41	N	-2.15	D	-0.745	T	0.391	T	0.251	0.601	7.238	3.66	0.562	1.542	2.556	0.170	0.0318135780953	.	0.000199681	8.241e-05	0	0	0	0	0	0	0.0006	7.76e-05	12	154602	rs533962812	2.121e-05	2.121e-05	1.497e-05	2.75e-05	0.0003	1.52e-05	1.324e-05	0.0002	0.0002	0	0	0	0	0	0	1.799e-06	4.967e-05	0.0003	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.105	0.30097	T	0.037	0.52389	D	.	.	.	.	.	.	0.385269	0.13332	N	0.738987	0.999985	0.18198	N	0.92	0.23413	L	-2.57	0.89692	D	-0.51	0.19509	N	0.147	0.17966	-0.7451	0.58190	T	0.391	0.74539	T	9	0.029973239	0.01124	T	0.031814	0.53806	D	0.170	0.43303	0.616	0.75000	0.387159634733	0.38326	0.21448832358119166	0.21364	0.185155760088	0.20815	0.227866187692	0.01814	T	0.381734	0.74398	T	-0.278513	0.10825	T	-0.301582	0.44557	T	0.0737837371396058	0.09172	T	0.893511	0.63097	D	0.07277163	0.16213	0.034218945	0.02451	0.07277163	0.16212	0.034218945	0.02450	-3.482	0.16181	T	0.0614734155390769	0.01757	0.074	0.07083	B	.;.;.;.;.	.;.;.;.;.	2.489016	0.32106	18.94	0.94951674421874988	0.25859	0.02093	0.06213	N	AEFBI	0.141521	0.26371	N	-0.622462271721669	0.18270	0.9472259	-0.499575623859311	0.22166	1.202611	0.953013470349845	0.28049	0.562547	0.31514	0	0.573888	0.26702	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.56	3.66	0.41111	1.406000	0.34254	6.486000	0.55748	0.618000	0.50648	0.249000	0.24839	1.000000	0.68203	0.996000	0.76049	0.1816:0.1375:0.5304:0.1505	2.556	0.04471	870	0.31527	.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	2975.98	39	chr4	148436413	.	G	A	2975.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.529;DP=1208;ExcessHet=0.0000;FS=2.126;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-3.470e-01;SOR=0.568	GT:AD:DP:GQ:PL	0/1:137,116:253:99:2990,0,3536	20	0	1	0
chr4	154320585	154320585	G	C	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001358235:exon9:c.C4814G:p.T1605R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.927	P	0.419	B	0.883	N	1.000	N	2.77	M	0.02	T	-0.811	T	0.263	T	0.215	2.405	14.00	0.53	0.096	2.655	10.004	0.296	0.0128995631933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.882562	0.08745	N	0.946206	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.8115	0.54460	T	0.263	0.63372	T	10	0.32522473	0.49836	T	0.013	0.31871	T	0.296	0.61616	.	.	.	.	0.4970587962303611	0.49626	0.306765287981	0.32982	0.2259953022	0.01685	T	.	.	.	-0.129387	0.31594	T	-0.423632	0.30660	T	0.775707244873047	0.44785	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04396	B	.	.	2.349552	0.30123	18.34	0.98586336137661656	0.43310	0.82348	0.41589	D	AEFI	0.441131	0.49941	N	-0.21865526324956	0.32369	1.824713	-0.312135520435471	0.27705	1.539318	0.00290506406406706	0.09788	0.594549	0.33734	0	0.573888	0.26702	0	0.597571	0.31856	0	0.564101	0.26826	0	.	.	5.59	0.53	0.16296	2.706000	0.46803	1.914000	0.29665	-0.116000	0.14526	0.995000	0.38783	0.000000	0.08366	0.986000	0.61781	0.5267:0.0:0.4733:0.0	10.004	0.41120	737	0.53483	Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3265.98	43	chr4	154320585	.	G	C	3265.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.590e-01;DP=1034;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=1.16;SOR=0.692	GT:AD:DP:GQ:PL	0/1:117,123:240:99:3280,0,3101	20	0	1	0
chr4	174493176	174493176	T	C	exonic	HPGD	.	nonsynonymous SNV	HPGD:NM_001256306:exon4:c.A433G:p.M145V	Cranioosteoarthropathy, Autosomal recessive;Digital clubbing, isolated congenital, Autosomal recessive;Hypertrophic osteoarthropathy, primary, autosomal recessive 1, Autosomal recessive	.	62	1459	1	0	0	1	0.000342583	.	.	1365592	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.55	T	0.105	B	0.015	B	0.000	D	1.000	D	1.245	L	-1.29	T	-0.691	T	0.318	T	0.687	1.478	10.89	4.54	0.977	2.747	12.019	0.349	0.0349172108352	7.7e-05	.	3.326e-05	0	0	0	0	6.43e-05	0	0	2.59e-05	4	154602	rs370867205	4.902e-05	4.857e-05	5.087e-05	4.716e-05	0.0042	3.962e-05	3.638e-05	0.0029	0.0025	0	0	0	0	0	0.0042	3.632e-05	6.676e-05	3.501e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	1.471e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0.0005	0	0.296	0.35537	T	0.603	0.14456	T	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.84330	D	0.128541	0.995348	0.81001	D	1.33	0.33268	L	-1.29	0.79475	T	-0.64	0.22508	N	0.64	0.67304	-0.6911	0.60857	T	0.318	0.68787	T	10	0.21078235	0.37484	T	0.034917	0.55999	D	0.349	0.67049	.	.	0.525973692452	0.52243	0.5075757903341275	0.50679	0.0274467866167	0.02809	0.43360131979	0.29701	T	0.215206	0.57701	T	0.0503598	0.58390	T	-0.0553796	0.66653	D	0.0932510919556834	0.11599	T	0.809319	0.45944	T	0.41012442	0.61427	0.2785896	0.53821	0.41012442	0.61427	0.2785896	0.53820	-3.761	0.35735	T	.	.	0.199	0.42433	B	.;.;.;.;.;.	.;.;.;.;.;.	1.852702	0.23538	16.05	0.9091638005888999	0.20165	0.81029	0.40522	D	AEFI	0.576449	0.57844	D	-0.257970298445316	0.30787	1.719906	-0.0802910782846611	0.36206	2.104076	0.999986842006005	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.73	4.54	0.55220	3.467000	0.52842	2.481000	0.32940	0.665000	0.62972	1.000000	0.71638	0.998000	0.33993	0.989000	0.64315	0.1295:0.0:0.0:0.8705	12.019	0.52627	905	0.23532	.;.;.;.;.;.	.	.	.	.	.	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	683.98	34	chr4	174493176	.	T	C	683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=821;ExcessHet=0.0000;FS=3.010;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.34;ReadPosRankSum=1.99;SOR=1.044	GT:AD:DP:GQ:PL	0/1:52,30:82:99:698,0,1253	20	0	1	0
chr4	185508522	185508522	G	A	exonic	PDLIM3	.	nonsynonymous SNV	PDLIM3:NM_014476:exon5:c.C439T:p.R147C,	.	.	.	.	.	.	.	.	.	.	.	632122	not_specified|Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy	MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.993	D	0.000	D	1.000	D	0.69	N	1.28	T	-0.964	T	0.154	T	0.775	4.585	24.9	5.97	2.833	7.573	20.432	0.331	0.0166630286097	.	.	2.483e-05	0	0	0	0	4.507e-05	0	0	1.94e-05	3	154602	rs769851440	9.577e-06	9.577e-06	9.529e-06	9.626e-06	2.987e-05	5.56e-06	4.35e-06	5.31e-06	3.88e-06	2.987e-05	2.236e-05	0	0	0	0	9.893e-06	0	1.159e-05	2.629e-05	2.627e-05	3.855e-05	1.345e-05	6.55e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.55e-05	0	0	0	0	4.411e-05	0	0	.	.	.	.	.	.	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	.	.	.	.	.	.	.	.	-0.9639	0.38428	T	0.154	0.48395	T	10	0.57157737	0.65349	D	0.016663	0.38021	T	.	.	0.29	0.25081	.	.	0.5668708901896886	0.56615	.	.	0.582495212555	0.50436	T	0.078622	0.35935	T	0.022222	0.54682	T	-0.109002	0.62691	T	0.853280067443848	0.50451	D	0.918608	0.70760	D	0.23833428	0.46710	0.20783187	0.45059	0.23833428	0.46710	0.20783187	0.45058	-6.33	0.48959	T	0.3078358442861302	0.40559	0.145	0.32030	B	.	.	5.150502	0.86261	28.9	0.99925071405511312	0.99042	0.97725	0.76683	D	AEFDGBI	0.947496	0.95810	D	0.683916971154635	0.78577	6.900051	0.744828437971687	0.85772	8.68084	0.999999999999823	0.74766	0.581397	0.33459	0	0.573888	0.26702	0	0.573888	0.23631	0	0.622129	0.49086	0	.	.	5.97	5.97	0.96935	7.694000	0.83480	11.863000	0.98373	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.432	0.99087	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	1	0	0	0	0	0	0	0.02381	1152.98	33	chr4	185508522	.	G	A	1152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.000e-03;DP=765;ExcessHet=0.0000;FS=0.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=-1.650e-01;SOR=0.566	GT:AD:DP:GQ:PL	0/1:37,41:78:99:1167,0,1041	20	0	1	0
chr4	186636653	186636653	T	C	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon5:c.A3904G:p.I1302V,	.	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.996	D	0.994	D	0.000	D	1.000	D	1.69	L	-0.22	T	-0.255	T	0.418	T	0.47	2.563	14.53	5.31	2.236	7.868	15.430	0.343	0.0187553311187	.	.	0.0002	0	0	0	0	1.499e-05	0	0.0012	0.0001294	20	154602	rs752677928	7.252e-05	7.251e-05	3.403e-05	0.0001	0.0010	6.115e-05	5.7e-05	0.0008	0.0007	0	0	0	0	0	0.0005	1.079e-05	0.0001	0.0010	3.283e-05	3.281e-05	3.854e-05	2.686e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.245	0.63543	M	-0.22	0.66474	T	-0.98	0.25986	N	0.617	0.77132	-0.2549	0.76227	T	0.418	0.76449	T	10	0.42757428	0.57276	T	0.018755	0.40927	T	0.343	0.66488	0.679	0.81691	0.628150982837	0.62511	0.24711120190201122	0.24625	0.46188562205	0.45726	0.4225705266	0.28190	T	0.126023	0.45212	T	-0.227579	0.16971	T	-0.14523	0.59664	T	0.208072431874858	0.20852	T	0.905509	0.66687	D	0.53347015	0.69028	0.4680823	0.69145	0.53347015	0.69029	0.4680823	0.69145	-6.161	0.47607	T	.	.	0.136	0.29642	B	.;.	.;.	3.585813	0.50577	23.0	0.99786248202535333	0.87219	0.96300	0.68467	D	AEFBCI	0.928320	0.91236	D	0.50207774608034	0.67212	5.051711	0.426096497527748	0.63196	4.548615	0.999999722172978	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.31	5.31	0.75063	8.017000	0.88732	6.123000	0.53812	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.050000	0.15192	0.0:0.0:0.0:1.0	15.430	0.74818	897	0.25382	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2930.98	38	chr4	186636653	.	T	C	2930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.890e-01;DP=944;ExcessHet=0.0000;FS=2.344;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-2.460e-01;SOR=0.542	GT:AD:DP:GQ:PL	0/1:106,121:227:99:2945,0,2617	20	0	1	0
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M,	.	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.952	P	0.4	B	0.000	D	1.000	D	.	.	1.78	T	-0.892	T	0.126	T	0.825	3.426	17.58	3.71	2.022	4.314	13.859	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.09524	305.29	14	chr4	189953101	.	C	T	305.29	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.690e-01;DP=450;ExcessHet=0.6776;FS=1.232;InbreedingCoeff=-0.1117;MLEAC=4;MLEAF=0.095;MQ=53.46;MQRankSum=-2.187e+00;QD=4.49;ReadPosRankSum=1.26;SOR=0.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,4:19:99:0|1:189953101_C_T:123,0,577:189953101	17	0	4	0
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.168	16.60	3.53	1.917	8.872	13.458	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	320.37	17	chr4	189953126	.	G	T	320.37	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.690e-01;DP=417;ExcessHet=0.6776;FS=2.758;InbreedingCoeff=-0.1133;MLEAC=4;MLEAF=0.095;MQ=52.68;MQRankSum=-2.362e+00;QD=5.09;ReadPosRankSum=1.34;SOR=0.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,4:18:99:0|1:189953101_C_T:126,0,556:189953101	17	0	4	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G,	.	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.047	B	0.081	B	0.000	D	1.000	D	0.485	N	2.6	T	-1.080	T	0.058	T	0.714	-0.181	3.117	4.19	1.677	5.001	11.575	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	2047.95	100	chr4	189957425	.	A	G	2047.95	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-4.170e-01;DP=2475;ExcessHet=4.7172;FS=2.456;InbreedingCoeff=-0.2675;MLEAC=9;MLEAF=0.214;MQ=47.50;MQRankSum=-1.662e+00;QD=1.66;ReadPosRankSum=-7.240e-01;SOR=0.943	GT:AD:DP:GQ:PL	0/1:115,24:139:99:221,0,3269	12	0	9	0
chr5	140060	140060	-	G	exonic	PLEKHG4B	.	frameshift insertion	PLEKHG4B:NM_052909:exon3:c.822dupG:p.S276Kfs*28,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	45.72	7	chr5	140060	.	T	TG	45.72	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-9.670e-01;DP=92;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0994;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=15.24;ReadPosRankSum=0.00;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:25:58,0,25	19	0	1	1
chr5	1210503	1210503	T	G	exonic	SLC6A19	.	nonsynonymous SNV	SLC6A19:NM_001003841:exon3:c.T403G:p.W135G,	Hartnup disorder, Autosomal recessive;Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.99	D	0.000	D	1.000	D	3.865	H	-1.43	T	0.785	D	0.764	D	0.843	2.889	15.63	4.13	1.642	4.908	13.445	0.770	0.444267094548	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1292124668	6.159e-06	6.156e-06	6.809e-06	5.503e-06	7.194e-06	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	1.656e-05	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.0	0.92824	D	0.999	0.77913	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	4.875	0.99749	H	-1.43	0.80730	T	-12.03	0.99635	D	0.797	0.79310	0.785	0.94230	D	0.764	0.91981	D	10	0.9823771	0.98314	D	0.444267	0.94223	D	0.770	0.92253	0.83	0.93978	0.908206165211	0.90729	0.9216210694403587	0.92138	1.01568644223	0.74939	0.69039028883	0.65762	T	0.800598	0.94911	D	0.378143	0.88590	D	0.305	0.88446	D	0.999729812145233	0.98678	D	0.924807	0.72410	D	0.97508633	0.98714	0.95999336	0.98971	0.97508633	0.98714	0.95999336	0.98972	-16.079	0.97877	D	0.8782388216067427	0.93681	0.579	0.67990	P	.	.	4.661671	0.74412	26.2	0.97220022090961211	0.32896	0.92448	0.55735	D	AEFDGBHCI	0.810570	0.73378	D	0.655025948857499	0.76696	6.534163	0.487875945987827	0.67187	5.050357	0.999999999838303	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.13	4.13	0.47661	6.034000	0.70575	4.666000	0.44258	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	0.0:0.0:0.0:1.0	13.445	0.60589	958	0.09170	.	.	.	.	.	.	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	1654.98	35	chr5	1210503	.	T	G	1654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.309e+00;DP=857;ExcessHet=0.0000;FS=3.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.475;SOR=0.937	GT:AD:DP:GQ:PL	0/1:79,75:154:99:1669,0,2048	20	0	1	0
chr5	26885688	26885688	T	C	exonic	CDH9	.	nonsynonymous SNV	CDH9:NM_016279:exon11:c.A1808G:p.E603G,	.	.	436	1056	30	0	0	30	0.0140056	.	.	699060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.559	P	0.451	P	0.000	D	1.000	D	2.28	M	0.39	T	-0.757	T	0.181	T	0.507	3.942	20.2	5.89	2.257	8.002	15.135	0.307	.	0.0052	0.00559105	0.0069	0.0009	0.0049	0.0002	0.0014	0.0083	0.0145	0.0114	0.0066429	1027	154602	rs34490509	0.0070	0.0070	0.0068	0.0073	0.0146	0.0069	0.0069	0.0121	0.0111	0.0007	0.0056	0.0046	7.56e-05	0.0024	0.0146	0.0075	0.0060	0.0115	0.0059	0.0059	0.0057	0.0060	0.0094	0.0055	0.0054	0.0082	0.0080	0.0015	0.0011	0.0094	0.0035	0.0004	0.0018	0.0034	0.0088	0.0081	0.0077	0.045	0.40832	D	0.156	0.31833	T	0.384	0.34453	B	0.451	0.46123	P	0.000079	0.52346	D	0.198141	0.999973	0.53665	D	2.295	0.65404	M	0.39	0.57419	T	-5.79	0.88065	D	0.736	0.73645	-0.7572	0.57556	T	0.181	0.52858	T	9	0.0105982125	0.00235	T	.	.	.	0.307	0.62838	.	.	0.49019323153	0.48651	0.7201756368752278	0.71960	0.604623075721	0.55391	0.440794110298	0.30685	T	0.160275	0.50405	T	-0.316683	0.07173	T	-0.216639	0.53061	T	0.0607416384655104	0.07285	T	0.859214	0.55036	D	0.3318728	0.55624	0.36143115	0.61567	0.3318728	0.55624	0.36143115	0.61567	-9.676	0.71950	D	.	.	0.259	0.49334	B	.	.	3.902883	0.56863	23.8	0.99848921927984158	0.92838	0.98369	0.82077	D	AEFGI	0.949439	0.96208	D	0.24730265959893	0.53504	3.51911	0.262897908325892	0.53386	3.507883	0.99998222151497	0.51787	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.89	5.89	0.94758	7.980000	0.87715	6.206000	0.54953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.669000	0.33223	0.0:0.0:0.0:1.0	15.135	0.72233	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1167.98	35	chr5	26885688	.	T	C	1167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.738;DP=786;ExcessHet=0.0000;FS=6.933;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-7.570e-01;SOR=1.418	GT:AD:DP:GQ:PL	0/1:54,44:98:99:1182,0,1413	20	0	1	0
chr5	35025765	35025765	C	A	exonic	AGXT2	.	stopgain	AGXT2:NM_001306173:exon9:c.G961T:p.E321X	.	.	.	.	.	.	.	.	.	0.1942	0.536	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	7.469	39	4.74	1.323	6.384	16.092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455883443	2.736e-06	2.736e-06	2.723e-06	2.75e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.044710	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.339	0.38027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.540069	0.95463	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	10.502858	0.99768	48	0.99777704542382495	0.86519	0.96312	0.68525	D	AEFBI	0.816471	0.73819	D	1.03861379400437	0.96813	15.179	0.875071645309083	0.94393	12.72497	0.999999934829284	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.62	4.74	0.59717	6.588000	0.73964	7.561000	0.60481	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.8655:0.1345:0.0	16.092	0.80903	720	0.55521	.;.;.	.	.	.	.	.	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	1963.98	33	chr5	35025765	.	C	A	1963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.547e+00;DP=918;ExcessHet=0.0000;FS=4.211;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=-1.480e-01;SOR=1.082	GT:AD:DP:GQ:PL	0/1:59,78:137:99:1978,0,1474	20	0	1	0
chr5	35646682	35646682	A	G	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon5:c.A601G:p.R201G	.	.	436	1032	52	2	0	56	0.0264151	.	.	3185083	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.991	D	0.000	D	1.000	D	1.935	M	3.29	T	-0.972	T	0.104	T	0.772	3.738	18.98	5.76	2.209	4.892	11.533	0.128	.	0.0058	0.00878594	0.0089	0.0011	0.0049	0.0003	0.0018	0.0066	0.0122	0.0331	0.0081694	1263	154602	rs80010329	0.0081	0.0082	0.0073	0.0090	0.0339	0.0080	0.0080	0.0328	0.0324	0.0011	0.0066	0.0021	2.524e-05	0.0020	0.0295	0.0071	0.0077	0.0339	0.0059	0.0059	0.0057	0.0061	0.0312	0.0055	0.0054	0.0272	0.0256	0.0012	0.0033	0.0092	0.0023	0.0008	0.0011	0.0102	0.0075	0.0071	0.0312	0.007	0.61437	D	0.011	0.69154	D	0.999	0.77913	D	0.936	0.79672	D	0.000010	0.62929	D	0.106914	0.975574	0.39200	D	2.585	0.75554	M	2.44	0.23082	T	-4.01	0.76576	D	0.669	0.69125	-0.9723	0.36712	T	0.104	0.38144	T	10	0.0059509277	0.00133	T	.	.	.	0.128	0.35103	.	.	0.280181792013	0.27631	0.34883728264109054	0.34797	0.0598001417922	0.06652	0.390581935644	0.23751	T	0.126954	0.67848	T	-0.279306	0.10741	T	-0.149605	0.59278	T	0.0231520665780728	0.01041	T	0.890711	0.64723	D	0.26254478	0.49316	0.36515856	0.61870	0.26254478	0.49316	0.36515856	0.61870	-7.081	0.55796	T	.	.	0.324	0.58942	B	.;.;.;.;.;.	.;.;.;.;.;.	4.926798	0.81191	27.5	0.99854414740950403	0.93368	0.93860	0.59400	D	AEFI	0.746136	0.68860	D	0.686472731394631	0.78746	6.934124	0.683200252497875	0.81105	7.449289	0.988114933324361	0.31422	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.76	5.76	0.90726	5.017000	0.63813	11.264000	0.91177	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8504:0.1496:0.0:0.0	11.533	0.49870	581	0.69614	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5285.9	33	chr5	35646682	.	A	G	5285.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.343;DP=929;ExcessHet=0.0082;FS=0.963;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=18.16;ReadPosRankSum=3.29;SOR=0.774	GT:AD:DP:GQ:PL	1/1:0,93:93:99:2794,279,0	18	1	2	0
chr5	38947281	38947281	T	C	exonic	RICTOR	.	nonsynonymous SNV	RICTOR:NM_001285440:exon32:c.A3442G:p.I1148V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.005	B	0.000	D	1.000	D	0.975	L	0.56	T	-0.957	T	0.118	T	0.192	2.540	14.45	4.69	2.228	5.831	11.333	0.082	0.0170925678962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.428e-06	3.42e-06	4.094e-06	2.755e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.482	0.08559	T	0.843	0.03579	T	0.0	0.02946	B	0.005	0.11217	B	0.000000	0.84330	D	0.044001	0.999991	0.58761	D	1.21	0.30464	L	0.55	0.54728	T	-0.44	0.14588	N	0.241	0.27197	-0.9565	0.39825	T	0.118	0.41538	T	10	0.14503619	0.27517	T	0.017093	0.38644	T	0.082	0.23913	0.363	0.36874	0.123314135267	0.11883	0.4418484881593754	0.44101	0.322719168632	0.34454	0.678290426731	0.64023	T	0.060768	0.31476	T	-0.129136	0.31636	T	-0.423272	0.30702	T	0.768729686737061	0.44362	D	0.90321	0.68443	D	0.11075876	0.26176	0.062235177	0.12145	0.11075876	0.26176	0.062235177	0.12145	-3.495	0.16628	T	.	.	0.076	0.06571	B	.;.	.;.	2.853322	0.37674	20.6	0.98652150399654537	0.44206	0.96785	0.70926	D	AEBI	0.611421	0.59988	D	0.0252201160382862	0.43003	2.60195	0.220661417202987	0.50995	3.285987	0.999969899223352	0.48965	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.84	4.69	0.58546	5.813000	0.68876	6.182000	0.54646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0703:0.0:0.9297	11.333	0.48723	226	0.91233	.;.	.	.	.	.	.	Uncertain significance	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	1297.98	34	chr5	38947281	.	T	C	1297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.493e+00;DP=808;ExcessHet=0.0000;FS=2.654;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=1.52;SOR=0.465	GT:AD:DP:GQ:PL	0/1:58,54:112:99:1312,0,1558	20	0	1	0
chr5	39288783	39288783	C	T	exonic	C9	.	nonsynonymous SNV	C9:NM_001737:exon10:c.G1585A:p.A529T,	C9 deficiency	YES	2	1518	2	0	0	2	0.000658328	.	.	1534602	Age_related_macular_degeneration_15|Complement_component_9_deficiency|not_provided	MONDO:MONDO:0014266,MedGen:C3810042,OMIM:615591|MONDO:MONDO:0013445,MedGen:C3151189,OMIM:613825|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.0	B	0.237	N	1.000	N	-1.04	N	-1.94	D	-0.879	T	0.184	T	0.029	0.292	5.581	-8.51	-0.882	-1.197	3.451	0.234	0.0211203642337	0.0003	0.00159744	0.0005	0.0002	0.0002	0	0	0.0003	0.0011	0.0024	0.0005627	87	154602	rs137891079	0.0007	0.0007	0.0007	0.0007	0.0029	0.0007	0.0007	0.0026	0.0024	5.991e-05	0.0002	0	0	1.872e-05	0.0003	0.0007	0.0009	0.0029	0.0004	0.0004	0.0003	0.0005	0.0033	0.0003	0.0003	0.0021	0.0017	4.818e-05	0	0	0	0	0	0	0.0006	0.0005	0.0033	0.809	0.03044	T	0.742	0.04947	T	0.0	0.02946	B	0.0	0.01387	B	0.237218	0.03558	N	1.454380	1	0.08975	N	-0.84	0.01504	N	-1.94	0.84919	D	-0.2	0.10136	N	0.04	0.01347	-0.8793	0.49817	T	0.184	0.53209	T	10	0.013572186	0.00287	T	0.02112	0.43839	T	0.234	0.53644	.	.	0.455816718377	0.45207	0.34817116393306585	0.34731	0.0324740096755	0.03394	0.24389372766	0.03152	T	0.008154	0.07505	T	-0.569413	0.00223	T	-0.597175	0.13050	T	0.000729340678505016	0.00007	T	0.371363	0.08780	T	0.0839138	0.19398	0.05673301	0.10190	0.0839138	0.19398	0.05673301	0.10189	-4.717	0.33610	T	0.06326907279804357	0.01932	0.068	0.02765	B	.	.	-0.805947	0.01095	0.049	0.4474683766928807	0.03463	0.01386	0.04714	N	AEFI	0.105961	0.21156	N	-1.81941593599529	0.00499	0.02149548	-1.80811251753575	0.00734	0.03269311	0.999210343222786	0.38775	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.79	-8.51	0.00804	-1.191000	0.03164	-0.349000	0.09758	-0.836000	0.02830	0.000000	0.06391	0.000000	0.08366	0.090000	0.17789	0.2368:0.2055:0.0644:0.4932	3.451	0.07066	727	0.54702	.	.	.	.	.	.	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	1881.98	37	chr5	39288783	.	C	T	1881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.601e+00;DP=853;ExcessHet=0.0000;FS=2.867;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.103;SOR=0.484	GT:AD:DP:GQ:PL	0/1:80,81:161:99:1896,0,2047	20	0	1	0
chr5	44809335	44809335	C	T	exonic	MRPS30	.	nonsynonymous SNV	MRPS30:NM_016640:exon1:c.C373T:p.P125S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.239	B	0.053	B	0.210	U	1.000	N	0.69	N	2.4	T	-1.022	T	0.024	T	0.181	-0.274	2.687	.	0.119	1.750	3.642	0.021	0.0146562358819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.746	0.03631	T	0.652	0.06690	T	0.239	0.30839	B	0.053	0.25678	B	0.209540	0.03377	U	3.632360	0.999974	0.18612	N	2.43	0.70455	M	2.4	0.15608	T	0.59	0.02558	N	0.282	0.31925	-1.0217	0.23162	T	0.024	0.10419	T	9	0.07285994	0.10931	T	0.014656	0.34921	T	0.021	0.04004	0.368	0.37687	0.101711395817	0.09552	0.2635074086650599	0.26263	0.201567771287	0.22553	0.569377064705	0.48589	T	0.002291	0.01691	T	-0.249906	0.14110	T	-0.596749	0.13085	T	0.0874139516440114	0.10908	T	0.357964	0.08163	T	0.042489205	0.06454	0.07291787	0.15787	0.042489205	0.06453	0.07291787	0.15786	-7.324	0.56366	T	.	.	0.082	0.08851	B	.	.	1.456376	0.18780	13.92	0.93968191318079386	0.24041	0.19874	0.20829	N	ALL	0.071817	0.14312	N	-1.00081714350302	0.08587	0.4031944	-1.09094087189583	0.07878	0.3849769	0.999999999958767	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	.	.	.	0.668000	0.24808	-0.288000	0.10216	0.591000	0.32079	0.320000	0.25502	0.000000	0.08366	0.115000	0.18958	0.0:0.5051:0.4949:0.0	3.642	0.07711	577	0.69927	.	.	.	.	.	.	Uncertain significance	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	2869.98	34	chr5	44809335	.	C	T	2869.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.424;DP=999;ExcessHet=0.0000;FS=0.476;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=2.58;SOR=0.728	GT:AD:DP:GQ:PL	0/1:111,122:233:99:2884,0,2544	20	0	1	0
chr5	55649263	55649263	C	T	exonic	SLC38A9	.	nonsynonymous SNV	SLC38A9:NM_001258286:exon9:c.G815A:p.R272H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.001	B	0.026	N	0.677	N	-0.145	N	4.39	T	-1.059	T	0.016	T	0.052	2.093	12.96	-3.76	-0.727	-0.342	13.720	0.052	.	0.0072	0.00678914	0.0024	0.0259	0.0014	0.0001	0	0.0001	0	0.0001	0.0021992	340	154602	rs35800744	0.0009	0.0009	0.0010	0.0007	0.0263	0.0008	0.0008	0.0248	0.0242	0.0263	0.0021	0	5.067e-05	0	0.0024	0.0001	0.0020	0.0001	0.0077	0.0078	0.0081	0.0074	0.0259	0.0074	0.0072	0.0246	0.0241	0.0259	0	0.0048	0	0	0	0	0.0002	0.0071	0	0.758	0.15823	T	0.285	0.25907	T	0.0	0.02946	B	0.001	0.04355	B	0.025993	0.25994	N	0.471018	0.676538	0.33193	D	-0.17	0.04298	N	4.39	0.30401	T	-0.6	0.23156	N	0.118	0.10769	-1.0587	0.12083	T	0.016	0.06711	T	10	0.0030638576	0.00051	T	.	.	.	0.052	0.14661	.	.	0.0675242888579	0.06100	0.35172987465907396	0.35086	0.286892952516	0.31084	0.202442273498	0.00531	T	0.005564	0.08187	T	-0.710333	0.00032	T	-0.772848	0.02676	T	0.0168655339327898	0.00439	T	0.865313	0.56401	D	0.029237304	0.02385	0.035147417	0.02713	0.029237304	0.02385	0.035147417	0.02712	-4.813	0.34743	T	.	.	0.061	0.03266	B	.;.;.;.;.	.;.;.;.;.	0.703903	0.10728	7.418	0.86556643073329997	0.16616	0.01608	0.05209	N	AEFI	0.037566	0.05184	N	-1.18865402266203	0.05171	0.2350938	-1.13888009199243	0.06969	0.3373052	0.0727565012000307	0.15611	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.56	-3.76	0.04074	-0.345000	0.07819	-3.857000	0.02492	-0.176000	0.10722	0.017000	0.19353	0.000000	0.08366	0.997000	0.79791	0.0:0.3152:0.0:0.6848	13.720	0.62202	926	0.17793	Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	703.98	35	chr5	55649263	.	C	T	703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.980e-01;DP=773;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=1.40;SOR=0.774	GT:AD:DP:GQ:PL	0/1:37,32:69:99:718,0,892	20	0	1	0
chr5	56859824	56859824	G	A	exonic	MAP3K1	.	nonsynonymous SNV	MAP3K1:NM_005921:exon3:c.G743A:p.R248Q,	46XY sex reversal 6, Autosomal dominant	.	0	1512	10	0	0	10	0.00329598	.	.	1136938	46,XY_sex_reversal_6	MONDO:MONDO:0013410,MedGen:C3151064,OMIM:613762	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.462	P	0.033	B	0.000	D	0.998	D	0.46	N	-0.51	T	-0.785	T	0.192	T	0.713	4.008	20.5	5.72	2.865	5.923	20.244	0.307	0.0340909185494	0.0002	0.000199681	0.0002	0.0001	0.0003	0	0	0.0002	0	0.0001	0.0001746	27	154602	rs201579608	0.0002	0.0002	0.0001	0.0002	0.0040	0.0001	0.0001	0.0027	0.0023	0.0001	0.0002	0	0.0005	0	0.0040	0.0001	0.0003	9.282e-05	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	9.698e-05	0.0002	8.372e-05	0.0002	0	0.0003	0	0.0006	0	0	0.0001	0.0005	0.0002	0.003	0.68238	D	0.197	0.27855	T	0.462	0.36386	P	0.033	0.22329	B	0.000007	0.62929	D	0.063999	0.998404	0.44873	D	0.695	0.17993	N	-0.51	0.70597	T	-0.26	0.11185	N	0.353	0.39457	-0.7854	0.55996	T	0.192	0.54448	T	10	0.13928393	0.26483	T	0.034091	0.55435	D	0.307	0.62838	.	.	0.897716925907	0.89670	0.46619975331670543	0.46538	0.285112308247	0.30925	0.453801572323	0.32463	T	0.085057	0.37416	T	-0.0781638	0.40014	T	-0.0653399	0.65956	T	0.064693726938696	0.07885	T	0.951005	0.81304	D	0.23866391	0.46746	0.23046295	0.48150	0.23866391	0.46746	0.23046295	0.48149	-5.001	0.36851	T	0.2071040475170354	0.27674	0.130	0.27968	B	.	.	3.923521	0.57294	23.8	0.99918331915710756	0.98586	0.96278	0.68361	D	AEFBI	0.435074	0.49586	N	0.17648182852868	0.50070	3.200756	0.362723241512512	0.59277	4.104244	0.999999855760563	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.72	5.72	0.89380	5.996000	0.70309	7.604000	0.61663	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	20.244	0.98390	919	0.19497	.	.	.	.	.	.	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	840.98	33	chr5	56859824	.	G	A	840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.531;DP=772;ExcessHet=0.0000;FS=0.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-1.556e+00;SOR=0.527	GT:AD:DP:GQ:PL	0/1:33,36:69:99:855,0,703	20	0	1	0
chr5	72198867	72198867	T	C	exonic	MAP1B	.	nonsynonymous SNV	MAP1B:NM_001324255:exon4:c.T5134C:p.F1712L	.	.	429	1090	3	0	0	3	0.00137426	.	.	709987	MAP1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.001	B	0.001	B	0.024	N	0.621	N	0.345	N	3.99	T	-1.045	T	0.005	T	0.277	1.432	10.73	5.12	2.071	1.790	6.877	0.101	.	0.0004	0.00519169	0.0015	0.0004	0.0079	0.0066	0.0008	0.0002	0.0022	0.0007	0.001727	267	154602	rs139319889	0.0007	0.0007	0.0007	0.0007	0.0104	0.0007	0.0007	0.0096	0.0093	0.0003	0.0104	0	0.0047	0.0009	0.0003	0.0002	0.0013	0.0008	0.0017	0.0017	0.0015	0.0019	0.0114	0.0015	0.0015	0.0100	0.0095	0.0005	0	0.0114	0	0.0048	0.0006	0	0.0004	0	0.0012	0.046	0.40573	D	0.873	0.03286	T	0.0	0.02946	B	0.001	0.04355	B	0.024003	0.26338	N	0.332987	0.621055	0.30779	N	0.805	0.20218	L	3.99	0.03268	T	-0.31	0.12099	N	0.251	0.28381	-1.0454	0.15709	T	0.005	0.01797	T	10	0.005590737	0.00124	T	.	.	.	0.101	0.28911	0.277	0.23004	0.273495378476	0.26946	0.307468957402968	0.30659	0.511365231531	0.49213	0.565193653107	0.47999	T	0.116929	0.43663	T	-0.553825	0.00277	T	-0.55792	0.16572	T	0.0103781482828968	0.00142	T	0.721828	0.33531	T	0.06587636	0.14122	0.071209885	0.15221	0.06587636	0.14122	0.071209885	0.15221	-2.128	0.03706	T	.	.	0.431	0.61244	A	.	.	2.821300	0.37167	20.4	0.98112584122227597	0.38367	0.75910	0.37193	D	AEBCI	0.090468	0.18332	N	-0.309816186786301	0.28774	1.589948	-0.124024472872625	0.34424	1.979981	0.999996558428913	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	1.772000	0.38182	6.228000	0.55194	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.1377:0.0:0.8623	6.877	0.23337	234	0.90879	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2591.98	56	chr5	72198867	.	T	C	2591.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1380;ExcessHet=0.0000;FS=1.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.275;SOR=0.864	GT:AD:DP:GQ:PL	0/1:95,99:194:99:2606,0,2548	20	0	1	0
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	.	.	1.000	N	1.61	L	0.06	T	-0.973	T	0.133	T	0.568	0.412	6.238	-2.42	-0.580	-0.566	0.344	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Uncertain significance	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	0.2381	835.18	74	chr5	75146001	.	A	G	835.18	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-2.826e+00;DP=1745;ExcessHet=6.1002;FS=93.999;InbreedingCoeff=-0.2987;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.04;SOR=11.037	GT:AD:DP:GQ:PL	0/1:80,19:99:3:3,0,1704	11	0	10	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	0/2:33,0,37,0:70:99:1358,1457,2743,0,1286,1172,1457,2743,1286,2743	7	0	1	0
chr5	95414027	95414027	T	C	exonic	FAM81B	.	nonsynonymous SNV	FAM81B:NM_152548:exon4:c.T374C:p.I125T,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.973	D	0.676	P	0.003	N	0.999	N	0.895	L	2.38	T	-1.052	T	0.035	T	0.505	-0.264	2.732	5.53	2.104	2.505	7.004	0.169	0.00941046523287	0.0003	.	0.0001	0	0	0	0	0.0001	0.0011	0.0004	9.7e-05	15	154602	rs370114367	6.977e-05	6.977e-05	5.037e-05	8.938e-05	0.0006	5.846e-05	5.457e-05	0.0004	0.0004	0	0	0	0	0	0.0005	3.597e-05	0.0002	0.0006	9.859e-05	9.85e-05	7.71e-05	0.0001	0.0002	6.008e-05	4.881e-05	9.047e-05	7.011e-05	0	0	0	0	0	0	0.0063	0.0002	0.0005	0.0002	1.0	0.00964	T	0.659	0.06533	T	.	.	.	.	.	.	0.003033	0.35542	N	0.304822	0.99929	0.21398	N	.	.	.	2.38	0.15843	T	1.81	0.00507	N	0.201	0.22228	-1.0525	0.13709	T	0.035	0.14943	T	10	0.05315727	0.05462	T	0.00941	0.24670	T	0.169	0.43123	.	.	0.32082282376	0.31691	0.19952218366301971	0.19869	0.212584941534	0.23763	0.380276083946	0.22296	T	.	.	.	-0.395477	0.02479	T	-0.469593	0.25560	T	0.102722830032188	0.12654	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26545	B	.	.	1.654362	0.21106	15.05	0.54921297827412086	0.05235	0.25248	0.22641	N	AEFGBI	0.059096	0.11135	N	-0.0530813087160384	0.39465	2.327711	-0.0395620494319849	0.37947	2.22872	0.722402032909137	0.22948	0.553676	0.25195	0	0.624306	0.53593	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.53	5.53	0.82530	2.750000	0.47177	2.885000	0.35353	0.665000	0.62972	0.728000	0.28902	0.275000	0.24072	0.282000	0.24066	0.0:0.1633:0.0:0.8367	7.004	0.24002	646	0.63441	.	.	.	.	.	.	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	2518.98	149	chr5	95414027	.	T	C	2518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.713;DP=1651;ExcessHet=0.0000;FS=0.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.65;ReadPosRankSum=-3.170e-01;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,69:172:99:0|1:95414019_G_A:2533,0,4036:95414019	20	0	1	0
chr5	102296261	102296261	A	G	exonic	SLCO4C1	.	startloss	SLCO4C1:NM_180991:exon1:c.T2C:p.M1?,	.	.	416	1100	6	0	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.967	D	0.879	P	0.249	N	1.000	D	.	.	1.06	T	-0.710	T	0.212	T	0.828	3.510	17.93	4.11	1.701	2.381	10.568	0.341	0.80485323273	0.0002	0.000798722	0.0004	0.0003	0.0003	0	0.0003	0.0005	0	0.0009	0.0004075	63	154602	rs149431208	0.0004	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0010	0.0009	0.0003	0.0013	0	0	7.984e-05	0.0017	0.0003	0.0005	0.0012	0.0007	0.0007	0.0007	0.0007	0.0025	0.0006	0.0005	0.0019	0.0017	0.0004	0	0.0025	0	0	0	0	0.0005	0.0014	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.967	0.56408	D	0.879	0.62418	P	0.249390	0.15542	N	0.533866	1	0.81001	D	.	.	.	1.06	0.39781	T	-1.11	0.28703	N	0.87	0.86725	-0.7098	0.59962	T	0.212	0.57241	T	9	0.20700732	0.36981	T	0.804853	0.98475	D	0.341	0.66297	.	.	0.47185959272	0.46814	0.5860858899970318	0.58538	.	.	.	.	.	0.009818	0.08911	T	-0.153976	0.27691	T	-0.0293306	0.68412	D	0.0704894601013022	0.08720	T	0.9	0.65058	D	0.87036234	0.88889	0.6680938	0.80532	0.87036234	0.88891	0.6680938	0.80533	-7.817	0.59816	D	.	.	.	.	.	.	.	3.650522	0.51811	23.1	0.99126891118974414	0.53142	0.91716	0.54112	D	ALL	0.019483	0.00680	N	0.253907152600546	0.53832	3.550563	0.162573063154185	0.47811	3.005879	0.999999999999983	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	4.11	4.11	0.47350	2.424000	0.44370	8.764000	0.78233	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.127000	0.19450	1.0:0.0:0.0:0.0	10.568	0.44375	347	0.85595	.	.	.	.	.	.	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	920.98	45	chr5	102296261	.	A	G	920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.256;DP=896;ExcessHet=0.0000;FS=0.967;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=1.31;SOR=0.951	GT:AD:DP:GQ:PL	0/1:42,35:77:99:935,0,1153	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	1/1:0,128,0,0:128:99:3510,384,0,3510,384,3510,3510,384,3510,3510	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	1/1:0,80,0:80:99:3435,239,0,3436,240,3438	3	5	12	0
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	0/1:73,25:101:92:.:.:92,0,1086	1	0	11	9
chr5	138164810	138164810	A	T	exonic	BRD8	.	nonsynonymous SNV	BRD8:NM_001300962:exon11:c.T1512A:p.D504E	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.001	B	0.001	B	0.005	N	0.687	N	0	N	0.86	T	-0.996	T	0.032	T	0.057	-0.698	0.979	-1.33	-0.029	-0.778	1.192	0.041	0.00558885892888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.672	0.05452	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.004637	0.33547	N	0.349230	0.686991	0.30226	N	0	0.06538	N	0.86	0.46777	T	-0.46	0.14978	N	0.064	0.05037	-0.9963	0.30946	T	0.032	0.13811	T	10	0.05225563	0.05232	T	0.005589	0.14439	T	0.130	0.35528	0.136	0.04008	0.386882687439	0.38305	0.08133000816099044	0.08067	0.160302322173	0.18085	0.355854332447	0.18780	T	0.005437	0.07220	T	-0.338383	0.05501	T	-0.72384	0.04612	T	0.0383754334676374	0.03398	T	0.749425	0.37065	T	0.025944237	0.01591	0.022804465	0.00298	0.025944237	0.01591	0.022804465	0.00298	-1.519	0.01803	T	.	.	0.075	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	0.342653	0.07159	3.746	0.42537681387206738	0.03142	0.08980	0.14824	N	AEFBI	0.066690	0.13074	N	-0.518380418277744	0.21486	1.140594	-0.51497924032914	0.21746	1.177861	0.00180200092578132	0.08901	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	-1.33	0.08693	-0.775000	0.04785	-1.081000	0.06389	0.691000	0.84096	0.142000	0.23535	0.000000	0.08366	0.948000	0.49324	0.3187:0.112:0.3246:0.2447	1.192	0.01752	172	0.93355	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2011.98	34	chr5	138164810	.	A	T	2011.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.12;DP=869;ExcessHet=0.0000;FS=0.607;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-4.140e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/1:81,73:154:99:2026,0,2171	20	0	1	0
chr5	140367479	140367479	G	A	exonic	SLC4A9	.	stopgain	SLC4A9:NM_001258427:exon14:c.G1884A:p.W628X	.	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	.	.	.	.	0.084	N	1.000	A	.	.	.	.	.	.	.	.	.	5.693	36	4.12	1.446	-0.080	10.000	.	.	0.0004	.	0.0006	0	0.0001	0	0	0.0008	0	0.0011	0.0004722	73	154602	rs199786527	0.0005	0.0005	0.0005	0.0006	0.0016	0.0005	0.0005	0.0008	0.0007	5.997e-05	0.0002	0.0036	0	1.904e-05	0.0016	0.0005	0.0007	0.0009	0.0004	0.0004	0.0005	0.0004	0.0010	0.0004	0.0003	0.0005	0.0005	7.238e-05	0	0.0002	0.0020	0	0	0	0.0007	0.0014	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.083908	0.20727	N	0.414645	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.321	0.36148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239141	0.77581	D	0.495319	0.94515	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	7.736445	0.96812	36	0.99084910011399929	0.52051	0.80216	0.39913	D	AEFDGBHCI	0.323405	0.42561	N	0.78998023835392	0.85473	8.586926	0.603793813887194	0.75214	6.271281	0.999999995305313	0.74766	0.65861	0.49226	0	0.688826	0.66785	0	0.514364	0.09456	0	0.584449	0.35598	0	.	.	5.02	4.12	0.47504	0.132000	0.15716	.	.	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.985000	0.61073	0.0727:0.263:0.6643:0.0	10.000	0.41096	168	0.93464	.;.;.;Bicarbonate transporter, C-terminal	.	.	.	.	.	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	0.04762	1908.11	39	chr5	140367479	.	G	A	1908.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.195;DP=810;ExcessHet=0.1072;FS=0.685;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=0.722;SOR=0.591	GT:AD:DP:GQ:PL	0/1:22,32:54:99:897,0,641	19	0	2	0
chr5	140558718	140558718	G	A	exonic	APBB3	.	nonsynonymous SNV	APBB3:NM_006051:exon12:c.C1349T:p.S450F	.	.	395	1116	10	1	0	12	0.00534759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.983	D	0.776	P	0.288	N	1.000	D	0.55	N	1.68	T	-1.014	T	0.106	T	0.582	4.151	21.5	4.76	2.198	2.807	14.693	0.146	.	0.0025	0.00299521	0.0034	0.0005	0.0017	0	0.0030	0.0050	0.0023	0.0019	0.003467	536	154602	rs148938296	0.0042	0.0042	0.0042	0.0041	0.0049	0.0041	0.0040	0.0048	0.0047	0.0008	0.0022	0.0007	0	0.0020	0.0040	0.0049	0.0035	0.0021	0.0029	0.0029	0.0029	0.0028	0.0050	0.0027	0.0026	0.0045	0.0043	0.0007	0	0.0025	0.0006	0	0.0014	0.0034	0.0050	0.0033	0.0023	0.001	0.78490	D	0.013	0.63918	D	0.983	0.60381	D	0.776	0.57120	P	0.288118	0.14819	N	0.631136	0.999071	0.81001	D	0.895	0.22405	L	1.68	0.27331	T	-1.9	0.44284	N	0.218	0.36148	-1.0144	0.25529	T	0.106	0.38685	T	9	0.0061609447	0.00139	T	.	.	.	0.146	0.38789	.	.	0.587119504466	0.58386	0.6069745111647697	0.60629	0.617409943644	0.56182	0.584734380245	0.50752	T	0.048863	0.28139	T	-0.385285	0.02884	T	-0.324293	0.42103	T	0.0271454059614276	0.01564	T	0.932107	0.74696	D	0.18576092	0.39953	0.2020007	0.44207	0.18576092	0.39953	0.2020007	0.44206	-5.06	0.41255	T	.	.	0.207	0.43380	B	.;.;.;.	.;.;.;.	4.136393	0.61934	24.4	0.99809110668185963	0.89353	0.88120	0.47910	D	AEFDBCI	0.575737	0.57801	D	0.27409462159115	0.54840	3.648657	0.328694986249366	0.57233	3.888237	0.999999999897684	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.696353	0.63694	0	0.528226	0.09195	0	.	.	4.76	4.76	0.60189	1.779000	0.38254	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	14.693	0.68712	214	0.91692	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1120.98	34	chr5	140558718	.	G	A	1120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-1.880e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/1:56,45:101:99:1135,0,1429	20	0	1	0
chr5	140848613	140848613	G	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.G118A:p.E40K	.	.	442	1033	39	8	0	55	0.0259312	.	.	3206704	PCDHA9-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	.	.	1.000	N	-0.555	N	1.58	T	-0.980	T	0.012	T	0.125	-0.311	2.521	2.52	0.116	-0.206	5.411	0.052	.	.	0.0071885	0.0074	0.0009	0.0061	0.0002	0.0014	0.0089	0.0090	0.0120	0.0013831	36	26028	rs147099629	0.0023	0.0049	0.0021	0.0026	0.0088	0.0023	0.0023	0.0068	0.0061	0.0007	0.0027	0.0133	0.0001	0.0011	0.0088	0.0018	0.0042	0.0063	0.0060	0.0077	0.0066	0.0053	0.0165	0.0056	0.0055	0.0136	0.0125	0.0012	0.0011	0.0078	0.0220	0	0.0011	0.0243	0.0081	0.0082	0.0165	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	-0.23	0.03940	N	1.58	0.29085	T	3.13	0.00124	N	0.075	0.04913	-0.9802	0.34955	T	0.012	0.04510	T	9	0.0044157207	0.00090	T	.	.	.	0.052	0.14661	.	.	0.234412748748	0.23057	0.5052483064863803	0.50446	.	.	.	.	.	0.001452	0.00908	T	-0.333893	0.05823	T	-0.71739	0.04923	T	0.0084557951795491	0.00102	T	0.563244	0.19836	T	0.0642428	0.13609	0.09128216	0.21453	0.0642428	0.13609	0.09128216	0.21452	2.727	0.00027	T	.	.	0.046	0.00059	B	.;.	.;.	1.464343	0.18873	13.97	0.89844929437015786	0.19152	0.02988	0.07843	N	AEFDBCI	0.041598	0.06346	N	-1.19300097945347	0.05105	0.2319599	-1.04312973743705	0.08850	0.4372199	2.36115250011173E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.584449	0.35598	0	.	.	3.73	2.52	0.29514	-0.511000	0.06404	.	.	-0.096000	0.16002	0.000000	0.06391	0.000000	0.08366	0.432000	0.27494	0.5631:0.274:0.1628:0.0	5.411	0.15649	32	0.98147	Cadherin, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1522.11	146	chr5	140848613	.	G	A	1522.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.19;DP=2530;ExcessHet=0.1072;FS=1.159;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.14;MQRankSum=-6.435e+00;QD=4.70;ReadPosRankSum=0.165;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,27:161:99:0|1:140848597_C_G:730,0,5545:140848597	19	0	2	0
chr5	140848623	140848623	C	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.C128A:p.T43N	.	.	443	1034	37	8	0	53	0.0249882	.	.	2708536	not_specified|PCDHA9-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.041	B	0.066	B	.	.	1.000	D	3.94	H	0.86	T	-0.451	T	0.158	T	0.383	3.815	19.37	3.73	2.051	2.379	16.078	0.160	.	0.0007	.	0.0065	0.0007	0.0050	0.0002	0.0012	0.0079	0.0090	0.0106	0.0010373	27	26028	rs186780543	0.0020	0.0040	0.0019	0.0022	0.0078	0.0020	0.0020	0.0059	0.0053	0.0005	0.0023	0.0118	0.0001	0.0010	0.0078	0.0016	0.0037	0.0049	0.0054	0.0076	0.0059	0.0049	0.0155	0.0051	0.0050	0.0126	0.0116	0.0008	0.0011	0.0072	0.0208	0	0.0011	0.0210	0.0074	0.0082	0.0155	0.01	0.57480	D	0.007	0.69154	D	0.02	0.21357	B	0.066	0.27432	B	.	.	.	.	1	0.81001	D	3.795	0.95366	H	0.86	0.46777	T	-4.79	0.80682	D	0.492	0.52563	-0.4510	0.70367	T	0.158	0.49043	T	9	0.010096908	0.00226	T	.	.	.	0.160	0.41473	.	.	0.657190473102	0.65432	0.714719429081555	0.71414	.	.	.	.	.	0.05186	0.28997	T	-0.0681011	0.41629	T	-0.335599	0.40841	T	0.188936567630157	0.19782	T	0.706229	0.32195	T	0.86958146	0.88828	0.8837174	0.93823	0.86958146	0.88830	0.8837174	0.93823	-12.312	0.86338	D	.	.	0.168	0.39865	B	.;.	.;.	3.811784	0.54986	23.6	0.98409677605635093	0.41159	0.70468	0.34603	D	AEFDBCI	0.520398	0.54527	D	-0.0215671095811526	0.40880	2.43543	-0.0540870625360181	0.37315	2.183088	0.999957572808903	0.48110	0.553676	0.25195	0	0.588015	0.36545	0	0.491614	0.08109	1	0.584449	0.35598	0	.	.	3.73	3.73	0.41982	2.076000	0.41172	.	.	0.545000	0.25583	0.003000	0.16062	0.000000	0.08366	0.779000	0.36868	0.0:1.0:0.0:0.0	16.078	0.80787	32	0.98147	Cadherin, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1300.11	146	chr5	140848623	.	C	A	1300.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.05;DP=2548;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.19;MQRankSum=-6.974e+00;QD=3.85;ReadPosRankSum=-6.260e-01;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,24:164:99:0|1:140848597_C_G:586,0,5713:140848597	19	0	2	0
chr5	141173188	141173188	G	T	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G353T:p.R118L,	.	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.884	P	0.577	P	.	.	0.745	N	2.785	M	0.68	T	-0.618	T	0.222	T	0.514	2.275	13.57	3.72	2.248	0.138	12.094	0.165	0.0368353614526	.	.	8.258e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs782647934	8.21e-06	8.209e-06	9.53e-06	6.876e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.209	0.26798	T	0.884	0.48618	P	0.577	0.50090	P	.	.	.	.	0.745443	0.29692	N	3.26	0.89945	M	0.68	0.51952	T	-4.23	0.75935	D	0.274	0.31027	-0.6175	0.64092	T	0.222	0.58601	T	9	0.3033355	0.47865	T	0.036835	0.57242	D	0.165	0.42395	0.591	0.71999	0.626386034836	0.62333	0.20023411860270382	0.19940	0.151306516326	0.17079	0.251606941223	0.03939	T	0.029406	0.21077	T	-0.0649308	0.42134	T	-0.331045	0.41352	T	0.895951747894287	0.54759	D	0.439356	0.12115	T	0.18013853	0.39120	0.27108026	0.53005	0.18013853	0.39120	0.27108026	0.53004	-8.022	0.61220	D	.	.	0.158	0.34992	B	.	.	2.052133	0.26091	16.99	0.99574112145822968	0.72561	0.45228	0.27492	N	AEFBI	0.316987	0.42111	N	0.236240678289581	0.52961	3.467411	0.14466343023555	0.46860	2.925169	0.825155962269917	0.24594	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	3.72	0.41857	0.183000	0.16729	.	.	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.965000	0.52897	0.086:0.0:0.914:0.0	12.094	0.53042	651	0.62880	.	.	.	.	.	.	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	1765.98	101	chr5	141173188	.	G	T	1765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=1091;ExcessHet=0.0000;FS=3.348;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=-2.458e+00;SOR=0.553	GT:AD:DP:GQ:PL	0/1:55,64:119:99:1780,0,1377	20	0	1	0
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.031	B	0.072	B	0.002	N	0.665	D	2.66	M	-1.43	T	-0.297	T	0.436	T	0.223	1.515	11.02	1.42	0.324	2.506	6.656	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	15997.73	187	chr5	141303081	.	A	G	15997.73	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.670e+00;DP=4433;ExcessHet=43.6797;FS=223.742;InbreedingCoeff=-0.9170;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.87;ReadPosRankSum=0.595;SOR=14.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:132,56:188:99:.:.:940,0,3263	1	0	20	0
chr5	141510985	141510985	G	A	exonic	PCDHGA1;PCDHGA10;PCDHGA11;PCDHGA12;PCDHGA2;PCDHGA3;PCDHGA4;PCDHGA5;PCDHGA6;PCDHGA7;PCDHGA8;PCDHGA9;PCDHGB1;PCDHGB2;PCDHGB3;PCDHGB4;PCDHGB5;PCDHGB6;PCDHGB7;PCDHGC3;PCDHGC4;PCDHGC5	.	nonsynonymous SNV	PCDHGC3:NM_002588:exon4:c.G2617A:p.G873S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.79	L	-3.77	D	1.023	D	0.906	D	0.823	5.005	29.4	4.9	2.540	8.889	18.260	0.737	0.518339274741	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1278517639	1.3e-05	1.3e-05	1.225e-05	1.375e-05	2.519e-05	8.31e-06	6.7e-06	8.1e-06	6.42e-06	0	0	0	2.519e-05	0	0	1.349e-05	3.311e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.92824	D	1.0	0.90584	D	0.998	0.97372	D	0.000185	0.48115	D	0.000000	0.989811	0.54805	D	2.455	0.71248	M	-3.77	0.95595	D	-1.26	0.66665	N	0.431	0.88027	1.023	0.97585	D	0.906	0.96869	D	10	0.4665736	0.59607	T	0.518339	0.95408	D	0.737	0.90852	.	.	0.97481234908	0.97453	0.40812239849666576	0.64827	0.982359219419	0.87527	0.855685651302	0.90469	D	0.116868	0.57851	T	0.426878	0.91375	D	0.375404	0.91268	D	0.995553910732269	0.87638	D	0.974903	0.93146	D	0.35737276	0.76151	0.43573654	0.83199	0.35737276	0.76152	0.43573654	0.83200	-9.297	0.74139	D	.	.	0.236	0.61234	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.418655	0.90668	31	0.99843061548143675	0.92316	0.94230	0.60510	D	AEFDGBCI	0.962014	0.98346	D	0.757660771975103	0.83404	8.008407	0.737951755214267	0.85253	8.526	1.0	0.98316	0.732398	0.92422	0	0.672317	0.65289	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	8.993000	0.93082	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:1.0:0.0	18.260	0.89971	700	0.57880	Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;.;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-binding domain;Cadherin, C-terminal catenin-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	0.02381	920.98	36	chr5	141510985	.	G	A	920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=799;ExcessHet=0.0000;FS=0.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=2.34;SOR=0.808	GT:AD:DP:GQ:PL	0/1:51,39:90:99:935,0,1136	20	0	1	0
chr5	146157453	146157453	A	G	exonic	LARS1	.	nonsynonymous SNV	LARS1:NM_001317964:exon9:c.T877C:p.F293L	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.998	D	0.981	D	0.000	D	1.000	D	0.58	N	1.39	T	-1.044	T	0.116	T	0.878	2.860	15.53	5.25	2.123	9.274	15.463	0.391	0.0315004424248	.	0.000199681	9.061e-05	0	0	0	0	5.994e-05	0	0.0004	7.76e-05	12	154602	rs528053176	3.968e-05	3.967e-05	2.859e-05	5.088e-05	0.0003	3.113e-05	2.846e-05	0.0002	0.0002	0	2.236e-05	0	0	0	0.0002	2.338e-05	3.312e-05	0.0003	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.421	0.09866	T	0.917	0.02899	T	0.031	0.20130	B	0.048	0.24975	B	0.000016	0.62929	D	0.124181	1	0.81001	D	0.655	0.16177	N	1.39	0.33842	T	-3.27	0.65512	D	0.824	0.81957	-1.0435	0.16265	T	0.116	0.40964	T	10	0.37803668	0.53982	T	0.032	0.53565	D	0.391	0.70684	0.404	0.43573	0.466655310336	0.46291	0.7751936049078645	0.77469	0.262911644521	0.28850	0.793779551983	0.81017	T	0.02749	0.20123	T	-0.0204493	0.48789	T	0.0373971	0.72759	D	0.19304414144964	0.20022	T	0.874313	0.66162	D	0.4502852	0.64059	0.28130436	0.54111	0.4502852	0.64059	0.28130436	0.54110	-1.036	0.01040	T	0.1399198366584474	0.15613	0.759	0.77926	P	.;.	.;.	3.479763	0.48587	22.6	0.96976193323515025	0.31839	0.99444	0.96106	D	AEFGBI	0.880671	0.80749	D	0.106783784379432	0.46780	2.913102	0.278059695452957	0.54261	3.59161	0.999999993198074	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	9.260000	0.94752	11.025000	0.84998	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.463	0.75110	812	0.42537	Aminoacyl-tRNA synthetase, class Ia;.	.	.	.	.	.	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	1501.98	35	chr5	146157453	.	A	G	1501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.140e+00;DP=810;ExcessHet=0.0000;FS=2.589;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=0.647;SOR=0.455	GT:AD:DP:GQ:PL	0/1:53,60:113:99:1516,0,1467	20	0	1	0
chr5	150618479	150618479	G	A	exonic	SYNPO	.	nonsynonymous SNV	SYNPO:NM_001166208:exon2:c.G112A:p.E38K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.366	B	0.019	B	0.002	N	1.000	D	1.61	L	1.88	T	-1.073	T	0.048	T	0.245	2.130	13.08	3.84	2.265	3.137	9.089	0.040	0.00872959264565	.	.	5.196e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs763095621	6.289e-05	6.156e-05	6.487e-05	6.086e-05	7.044e-05	5.183e-05	4.833e-05	5.768e-05	5.266e-05	0	2.801e-05	0	0	0.0001	0	7.044e-05	8.62e-05	1.262e-05	3.941e-05	3.94e-05	5.138e-05	2.689e-05	8.819e-05	1.715e-05	1.129e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.366	0.34016	B	0.019	0.18783	B	0.001597	0.38554	N	0.000000	0.926147	0.27175	N	1.555	0.39373	L	1.88	0.23884	T	-0.77	0.21429	N	0.321	0.36674	-1.0725	0.08873	T	0.048	0.20395	T	10	0.1267958	0.24108	T	0.00873	0.23050	T	0.040	0.10527	0.257	0.19845	0.184605227958	0.18053	0.33284784469401907	0.33197	0.57651665974	0.53601	0.508530139923	0.40017	T	0.133895	0.46484	T	-0.265131	0.12306	T	-0.433976	0.29485	T	0.306170145354962	0.25257	T	0.717028	0.32946	T	0.38095993	0.59385	0.50133455	0.71172	0.38095993	0.59386	0.50133455	0.71172	-5.841	0.44930	T	.	.	0.118	0.25100	B	.;.	.;.	3.353502	0.46269	22.3	0.99701318305479081	0.80660	0.64845	0.32540	D	AEFDBI	0.225782	0.34982	N	0.0395091088651335	0.43660	2.654702	0.131070438484766	0.46146	2.865475	0.999950857558627	0.48110	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	4.93	3.84	0.43422	2.147000	0.41849	7.268000	0.57981	0.676000	0.76740	0.984000	0.35821	1.000000	0.68203	0.632000	0.32210	0.1194:0.0:0.8806:0.0	9.089	0.35760	866	0.32446	.;.	.	.	.	.	.	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	1077.98	33	chr5	150618479	.	G	A	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=806;ExcessHet=0.0000;FS=3.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=1.11;SOR=0.373	GT:AD:DP:GQ:PL	0/1:37,42:79:99:1092,0,827	20	0	1	0
chr5	151521333	151521333	C	T	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon19:c.G11260A:p.A3754T,	.	.	434	1087	1	0	0	1	0.00045977	.	.	2804396	FAT2-related_disorder	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.996	D	0.000	D	1.000	D	2.395	M	0.56	T	-0.156	T	0.489	T	0.703	4.738	26.4	5.99	2.840	5.975	20.478	0.248	0.0459389243967	.	.	6.623e-05	0	0.0003	0	0	6.012e-05	0	6.094e-05	5.82e-05	9	154602	rs756014540	3.421e-05	3.42e-05	3.948e-05	2.888e-05	0.0001	2.632e-05	2.375e-05	4.358e-05	2.767e-05	8.962e-05	0.0001	0	0	1.872e-05	0	3.328e-05	0	4.638e-05	3.285e-05	3.283e-05	1.285e-05	5.38e-05	0.0002	1.261e-05	7.98e-06	8e-06	2.99e-06	4.827e-05	0	0	0	0	9.413e-05	0	1.47e-05	0	0.0002	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000009	0.62929	D	0.000000	0.999977	0.53665	D	2.495	0.72670	M	0.56	0.54540	T	-2.43	0.53258	N	0.665	0.67391	-0.1556	0.78778	T	0.489	0.80550	T	10	0.6052849	0.67139	D	0.045939	0.62219	D	0.248	0.55615	0.353	0.35246	0.744494723672	0.74219	0.8735509601123914	0.87321	0.548968386645	0.51815	0.553411483765	0.46338	T	0.104343	0.41381	T	-0.0766959	0.40250	T	-0.0928989	0.63942	T	0.279899838625002	0.24167	T	0.874613	0.58533	D	0.35932797	0.57784	0.44567978	0.67708	0.35932797	0.57785	0.44567978	0.67708	-3.865	0.21779	T	.	.	0.355	0.56888	A	.	.	4.600499	0.72864	25.9	0.99914858296652209	0.98309	0.95800	0.66207	D	AEFBCI	0.710267	0.66409	D	0.544754666452635	0.69761	5.403396	0.611087229997147	0.75742	6.364948	0.999999999188163	0.74766	0.603402	0.35316	0	0.548873	0.16688	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.99	5.99	0.97299	6.096000	0.71091	5.898000	0.50850	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.478	0.99191	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1530.98	34	chr5	151521333	.	C	T	1530.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.631e+00;DP=813;ExcessHet=0.0000;FS=2.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.44;ReadPosRankSum=1.36;SOR=0.466	GT:AD:DP:GQ:PL	0/1:50,56:106:99:1545,0,1379	20	0	1	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	114730.68	413	chr5	157052557	.	C	*,CGTT	114730.68	.	AC=31,10;AF=0.738,0.238;AN=42;DP=11099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=31,10;MLEAF=0.738,0.238;MQ=60.00;QD=11.64;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,230,269:499:99:.:.:21495,11118,10518,9248,0,8329	0	12	1	0
chr5	160685015	160685015	T	C	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366658:exon1:c.A206G:p.Y69C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.628e-06	3.181e-06	7.91e-06	0	0.0005	6e-07	2.3e-07	8.627e-05	3.588e-05	0	0	0	0	0	0.0005	0	0	0	1.971e-05	1.969e-05	0	4.03e-05	.	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0102	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7150434	0.73291	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.927307	0.73215	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.701	0.73016	P	.	.	2.540840	0.32871	19.17	0.79543793417501552	0.12790	0.98384	0.82228	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999867070675	0.74766	0.074636	0.01641	0	0.063388	0.01293	0	0.078618	0.02440	0	0.057018	0.00518	0	0.967517	0.70088	5.71	5.71	0.89031	7.924000	0.86974	7.705000	0.66497	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.156	0.72424	850	0.35610	P-type ATPase, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	39.8	2	chr5	160685015	.	T	C	39.8	.	AC=2;AF=0.111;AN=18;DP=49;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.167;MQ=60.00;QD=19.90;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	8	1	0	12
chr5	163469773	163469773	A	G	exonic	HMMR	.	nonsynonymous SNV	HMMR:NM_001142557:exon2:c.A145G:p.T49A	.	.	.	.	.	.	.	.	.	.	.	2346394	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.87	T	0.0	B	0.001	B	0.000	D	0.918	N	0	N	2.99	T	-0.984	T	0.164	T	0.131	1.773	11.89	2.15	0.120	1.701	8.008	0.060	0.0247190025527	7.7e-05	.	4.122e-05	0	0	0	0	5.999e-05	0	6.06e-05	4.53e-05	7	154602	rs201404287	3.767e-05	3.762e-05	3.544e-05	3.992e-05	0.0003	2.963e-05	2.659e-05	6.094e-05	4.043e-05	0	2.239e-05	0	0	0	0.0003	3.692e-05	3.314e-05	0.0001	3.282e-05	3.281e-05	2.569e-05	4.027e-05	5.879e-05	1.26e-05	7.97e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0.0034	5.879e-05	0	0	0.054	0.38633	T	0.241	0.32461	T	0.0	0.02946	B	0.0	0.04355	B	0.000479	0.44119	D	0.232113	0.996814	0.27358	N	0.805	0.20218	L	-1.17	0.78199	T	-0.29	0.13805	N	0.037	0.01825	-0.9843	0.33998	T	0.164	0.50045	T	10	0.04510957	0.03544	T	0.024719	0.47706	T	0.060	0.17295	.	.	0.644325926208	0.64138	0.04786964437928481	0.04729	0.0590735602802	0.06558	0.27437210083	0.06720	T	0.102934	0.52551	T	-0.260103	0.12888	T	-0.429868	0.29949	T	0.0221627606204562	0.00927	T	0.509849	0.17180	T	0.025529435	0.01501	0.04351879	0.05432	0.025529435	0.01501	0.04351879	0.05431	-3.365	0.14589	T	.	.	0.069	0.03925	B	.;.;.;.;.;.	.;.;.;.;.;.	1.146947	0.15347	11.78	0.87709617616569258	0.17424	0.72038	0.35276	D	AEFBI	0.068841	0.13598	N	-0.971428322337762	0.09218	0.4353508	-0.744361674562847	0.15861	0.8362753	0.99382466713496	0.33371	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	2.15	0.26590	1.870000	0.39166	0.779000	0.21463	-0.720000	0.03816	1.000000	0.71638	0.995000	0.32472	0.864000	0.41028	0.2583:0.0:0.1172:0.6244	8.008	0.29501	931	0.16308	Hyaluronan mediated motility receptor, N-terminal;Hyaluronan mediated motility receptor, N-terminal;.;.;.;Hyaluronan mediated motility receptor, 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	2093.98	35	chr5	163469773	.	A	G	2093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=996;ExcessHet=0.0000;FS=3.711;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=-8.050e-01;SOR=0.690	GT:AD:DP:GQ:PL	0/1:74,83:157:99:2108,0,1671	20	0	1	0
chr5	179126029	179126029	C	T	exonic	ADAMTS2	.	nonsynonymous SNV	ADAMTS2:NM_014244:exon18:c.G2719A:p.A907T,	Ehlers-Danlos syndrome, type VIIC, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	954138	Inborn_genetic_diseases|Ehlers-Danlos_syndrome,_dermatosparaxis_type|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410,Orphanet:1901|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.58	T	0.0	B	0.007	B	0.177	N	1.000	N	0.88	L	0.43	T	-1.028	T	0.081	T	0.031	0.213	5.149	-0.146	-0.274	-1.401	6.157	0.050	0.0223883361079	.	0.000399361	0.0003	0	0.0002	0	0	0.0003	0	0.0008	0.0002458	38	154602	rs199617528	0.0001	0.0001	9.67e-05	0.0002	0.0012	0.0001	0.0001	0.0007	0.0007	0	8.944e-05	0	0	0	0.0012	7.644e-05	0.0002	0.0009	8.53e-05	8.529e-05	2.568e-05	0.0001	0.0017	4.951e-05	3.958e-05	0.0008	0.0006	0	0	6.531e-05	0	0.0002	0	0	4.409e-05	0	0.0017	0.576	0.06067	T	0.566	0.08930	T	0.0	0.02946	B	0.007	0.12992	B	0.176666	0.17218	N	0.518916	1	0.08975	N	0.18	0.09070	N	0.43	0.56772	T	-0.27	0.11366	N	0.081	0.05670	-1.0280	0.21103	T	0.081	0.32090	T	10	0.014906406	0.00313	T	0.022388	0.45274	T	0.050	0.13987	.	.	0.246926113748	0.24311	0.14767049318729022	0.14689	0.392667314243	0.40446	0.37970739603	0.22215	T	0.081376	0.36582	T	-0.589493	0.00169	T	-0.692347	0.06254	T	0.00809484054131772	0.00096	T	.	.	.	0.04636358	0.07747	0.049068276	0.07421	0.04636358	0.07747	0.049068276	0.07421	-4.578	0.31894	T	.	.	0.069	0.03231	B	.;.	.;.	0.063826	0.04739	1.367	0.91130517927257149	0.20383	0.04757	0.10463	N	AEFBI	0.130832	0.24954	N	-1.08279507813534	0.06960	0.321922	-1.0875609145936	0.07944	0.3885209	0.0593079904116945	0.15157	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.95	-0.146	0.12775	-1.023000	0.03718	-2.569000	0.03598	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.563000	0.30483	0.0:0.5895:0.126:0.2844	6.157	0.19562	662	0.61715	.;.	.	.	.	.	.	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	942.98	35	chr5	179126029	.	C	T	942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.261e+00;DP=818;ExcessHet=0.0000;FS=3.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-1.628e+00;SOR=0.408	GT:AD:DP:GQ:PL	0/1:40,39:79:99:957,0,1100	20	0	1	0
chr6	1611907	1611912	GCGGCG	-	exonic	FOXC1	.	nonframeshift deletion	FOXC1:NM_001453:exon1:c.1462_1467del:p.A494_A495del,	Anterior segment dysgenesis 3, multiple subtypes, Autosomal dominant;Axenfeld-Rieger syndrome, type 3, Autosomal dominant	.	0	223	3	0	0	3	0.00668151	.	.	585646	not_provided|Axenfeld-Rieger_syndrome_type_3	MedGen:C3661900|MONDO:MONDO:0011233,MedGen:C2678503,OMIM:602482,Orphanet:782	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0	0	0	0	0.0033	0	0.0026	0.0002781	43	154602	rs771540524	0.0004	0.0004	0.0003	0.0005	0.0035	0.0004	0.0004	0.0023	0.0020	0	0.0004	0.0019	2.8e-05	0	0.0035	0.0003	0.0006	0.0021	0.0004	0.0004	0.0003	0.0004	0.0026	0.0003	0.0003	0.0014	0.0011	5.273e-05	0	0.0005	0.0009	0	0	0.0049	0.0005	0.0005	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3396.07	35	chr6	1611906	.	CGCGGCG	C	3396.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.976;DP=968;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=20.83;ReadPosRankSum=0.469;SOR=0.743	GT:AD:DP:GQ:PL	0/1:38,37:75:99:1423,0,1465	19	0	2	0
chr6	7910699	7910701	CAG	-	exonic	TXNDC5	.	nonframeshift deletion	TXNDC5:NM_030810:exon1:c.76_78del:p.L26del,	.	.	407	1088	27	0	0	27	0.012256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0212	0.0172	0	.	.	0	0	0.0417	6.5e-06	1	154602	rs775841007	0.0006	0.0059	0.0005	0.0008	0.0063	0.0006	0.0006	0.0044	0.0038	0.0007	0.0063	0.0012	0.0022	0.0033	0.0014	0.0005	0.0008	0.0023	2.708e-05	0.0002	2.641e-05	2.778e-05	6.034e-05	8.33e-06	5.27e-06	2.008e-05	1.148e-05	0	0	0	0	0	0	0	6.034e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	89.68	19	chr6	7910698	.	CCAG	C	89.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.53;DP=625;ExcessHet=0.3300;FS=1.982;InbreedingCoeff=-0.0761;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=3.45;ReadPosRankSum=1.27;SOR=1.292	GT:AD:DP:GQ:PL	0/1:9,1:10:15:15,0,354	18	0	3	0
chr6	11201012	11201012	A	G	exonic	NEDD9	.	nonsynonymous SNV	NEDD9:NM_182966:exon3:c.T494C:p.L165S,	.	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.005	B	0.004	B	.	.	1.000	N	.	.	-0.11	T	-0.985	T	0.069	T	0.095	1.978	12.57	0.451	-0.003	0.310	6.437	0.131	0.0171478446116	.	0.000998403	0.0002	0.0003	0	0	0	0	0.0011	0.0013	0.0002005	31	154602	rs144344656	6.362e-05	6.43e-05	3.948e-05	8.8e-05	0.0008	5.294e-05	4.911e-05	0.0007	0.0006	8.961e-05	0	0	0	0	0	8.993e-06	0.0001	0.0008	4.595e-05	4.593e-05	3.854e-05	5.369e-05	0.0006	2.107e-05	1.526e-05	0.0002	8.989e-05	9.62e-05	0	0	0	0	0	0	0	0	0.0006	0.0	0.91255	D	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.20864	N	.	.	.	-0.11	0.64445	T	1.85	0.00483	N	0.18	0.19459	-0.9845	0.33951	T	0.069	0.28113	T	8	0.009632796	0.00217	T	0.017148	0.38730	T	0.131	0.35738	.	.	0.477794650704	0.47409	.	.	.	.	.	.	.	.	.	.	-0.467942	0.00876	T	-0.495384	0.22827	T	0.069080175510577	0.08522	T	0.30087	0.05647	T	.	.	.	.	.	.	.	.	-3.222	0.12751	T	.	.	0.088	0.11797	B	.	.	0.776869	0.11468	8.073	0.94708112552544721	0.25368	0.02803	0.07526	N	AEFDBCI	0.027134	0.02161	N	-0.838706537655214	0.12329	0.6003141	-0.90364673652113	0.12008	0.6152142	0.999998789907843	0.74766	0.50284	0.20314	0	0.577304	0.33150	0	0.547309	0.15389	0	0.654926	0.60358	0	.	.	4.42	0.451	0.15841	0.300000	0.18911	-0.018000	0.12964	0.756000	0.94297	0.007000	0.17678	0.000000	0.08366	0.101000	0.18331	0.663:0.0:0.337:0.0	6.437	0.21029	808	0.43318	.	.	.	.	.	.	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	2165.98	34	chr6	11201012	.	A	G	2165.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=860;ExcessHet=0.0000;FS=0.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=-6.410e-01;SOR=0.638	GT:AD:DP:GQ:PL	0/1:68,84:152:99:2180,0,1586	20	0	1	0
chr6	19838155	19838155	C	T	exonic	ID4	.	nonsynonymous SNV	ID4:NM_001546:exon1:c.C401T:p.A134V,	.	.	422	1097	2	1	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	B	0.078	B	0.115	N	0.686	N	0	N	-1.15	T	-1.058	T	0.087	T	0.179	1.741	11.78	1.54	1.458	0.209	9.939	0.231	0.799026717674	.	.	0.0010	0	0.0018	0	0	9.053e-05	0	0.0029	0.0002264	35	154602	rs755277892	0.0001	0.0001	7.79e-05	0.0002	0.0020	0.0001	0.0001	0.0017	0.0016	0	3.049e-05	4.283e-05	0	0	0.0017	1.032e-05	0.0001	0.0020	4.604e-05	4.594e-05	1.287e-05	8.072e-05	0.0014	2.111e-05	1.528e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.156	0.24090	T	0.239	0.24477	T	0.416	0.35222	B	0.078	0.28627	B	0.114996	0.19252	N	0.486248	0.685816	0.30237	N	1.245	0.31408	L	-1.15	0.77964	T	-1.19	0.30346	N	0.073	0.04668	-1.0585	0.12134	T	0.087	0.33634	T	9	0.025958866	0.00775	T	0.799027	0.98426	D	0.231	0.53208	0.065	0.00293	0.774559073603	0.77248	0.4953486265445007	0.49455	0.615504475443	0.56028	0.905481100082	0.97025	D	0.234726	0.60181	T	-0.416534	0.01800	T	-0.377575	0.36006	T	0.0279389254958791	0.01680	T	0.684632	0.29288	T	0.08812124	0.20546	0.11761489	0.28392	0.08812124	0.20546	0.11761489	0.28391	-5.395	0.40871	T	.	.	0.084	0.09723	B	.	.	2.449039	0.31530	18.77	0.98917925076401569	0.48509	0.13120	0.17674	N	AEFDBCIJ	0.205395	0.33175	N	-0.658182930012867	0.17222	0.8843883	-0.640591711649924	0.18455	0.985923	0.999964466147213	0.48965	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	2.58	1.54	0.22290	0.104000	0.15148	1.573000	0.27428	0.443000	0.21123	0.067000	0.21986	1.000000	0.68203	0.879000	0.42020	0.0:0.7924:0.2076:0.0	9.939	0.40739	865	0.32612	.	.	.	.	.	.	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	1036.98	35	chr6	19838155	.	C	T	1036.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=829;ExcessHet=0.0000;FS=0.885;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=0.368;SOR=0.805	GT:AD:DP:GQ:PL	0/1:51,40:91:99:1051,0,1235	20	0	1	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	0/2:55,0,24:79:99:145,296,1210,0,914,850	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	0/2:55,0,24:79:99:145,296,1210,0,914,850	2	0	6	2
chr6	24651033	24651033	C	G	exonic	TDP2	.	nonsynonymous SNV	TDP2:NM_016614:exon7:c.G844C:p.D282H,	Spinocerebellar ataxia, autosomal recessive 23, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.005	M	1.69	T	-0.698	T	0.196	T	0.918	5.023	29.6	6.07	2.884	7.362	20.644	0.592	0.210428734756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.175	0.88760	M	1.69	0.27032	T	-6.54	0.91956	D	0.991	0.99776	-0.6977	0.60548	T	0.196	0.54970	T	10	0.9876216	0.99138	D	0.210429	0.87252	D	0.592	0.83747	0.893	0.97460	0.638114607455	0.63514	0.9382872160209571	0.93809	0.727299072329	0.62562	0.655225038528	0.60727	T	0.760075	0.95582	D	0.293966	0.82480	D	0.184486	0.82254	D	0.999176800251007	0.96429	D	0.910309	0.68205	D	0.9099958	0.92294	0.90009004	0.94982	0.9099958	0.92295	0.90009004	0.94983	-14.304	0.94003	D	.	.	0.989	0.93267	P	.;.	.;.	5.154231	0.86338	28.9	0.99602355162961709	0.74278	0.99229	0.93135	D	AEFGBI	0.885990	0.81699	D	0.983363411012776	0.95210	13.40805	0.949443741997497	0.97388	16.04422	0.999999999187853	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	7.443000	0.79636	7.677000	0.65097	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.644	0.99572	740	0.53092	Endonuclease/exonuclease/phosphatase;Endonuclease/exonuclease/phosphatase	.	.	.	.	.	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	898.98	36	chr6	24651033	.	C	G	898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=781;ExcessHet=0.0000;FS=2.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=0.355;SOR=1.031	GT:AD:DP:GQ:PL	0/1:40,33:73:99:913,0,1026	20	0	1	0
chr6	24842956	24842956	T	G	exonic	RIPOR2	.	nonsynonymous SNV	RIPOR2:NM_001286445:exon13:c.A1763C:p.N588T	.	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.307	B	0.117	B	0.472	N	1.000	N	0	N	1.5	T	-1.000	T	0.015	T	0.091	0.681	7.642	-2.44	-0.421	0.647	11.180	0.030	0.00970253039019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.45e-06	1.368e-06	1.425e-06	1.477e-06	9.321e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.321e-07	1.764e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.50132	T	0.547	0.26226	T	0.089	0.32716	B	0.075	0.32014	B	0.472183	0.12264	N	0.804657	1	0.08975	N	.	.	.	1.5	0.31205	T	-1.35	0.33598	N	0.166	0.23758	-1.0002	0.29860	T	0.015	0.05849	T	10	0.053133816	0.05457	T	0.009703	0.25336	T	0.030	0.07022	0.299	0.26522	0.117191471859	0.11215	0.06789157172204004	0.06727	0.307147514716	0.33015	0.234472736716	0.02315	T	0.004725	0.12895	T	-0.269073	0.11861	T	-0.624281	0.10853	T	0.122550487018229	0.14677	T	0.916408	0.71859	D	0.044082332	0.06984	0.050278056	0.07858	0.044082332	0.06984	0.050278056	0.07857	-5.695	0.43649	T	.	.	0.071	0.23077	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.297159	0.16988	12.89	0.88421987137573022	0.17964	0.39539	0.26235	N	AEFBI	0.209983	0.33592	N	-0.869597642148016	0.11571	0.5591058	-0.850791545410368	0.13268	0.6873749	0.193595894749743	0.18030	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.65	-2.44	0.06126	0.642000	0.24426	0.004000	0.13336	0.665000	0.62972	0.224000	0.24579	0.000000	0.08366	0.991000	0.66497	0.0:0.4452:0.0:0.5548	11.180	0.47852	750	0.51762	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2348.98	38	chr6	24842956	.	T	G	2348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.030e-01;DP=900;ExcessHet=0.0000;FS=2.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=0.515;SOR=0.732	GT:AD:DP:GQ:PL	0/1:96,95:191:99:2363,0,2400	20	0	1	0
chr6	25761998	25761998	-	T	exonic	SLC17A4	.	stopgain	SLC17A4:NM_005495:exon2:c.36_37insT:p.D13*,	.	.	432	1081	9	0	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0005	9.638e-05	0.0013	0	0.0002	0.0006	0.0022	6.113e-05	0.0004463	69	154602	rs754805517	0.0005	0.0005	0.0005	0.0005	0.0023	0.0005	0.0005	0.0013	0.0011	0.0001	0.0011	0.0028	0	5.617e-05	0.0023	0.0005	0.0008	0.0002	0.0006	0.0006	0.0006	0.0005	0.0016	0.0005	0.0004	0.0011	0.0010	2.407e-05	0	0.0016	0.0041	0.0002	0	0.0034	0.0006	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1703.94	34	chr6	25761998	.	G	GT	1703.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.251;DP=824;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-3.570e-01;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,47:125:99:0|1:25761998_G_GT:1718,0,3134:25761998	20	0	1	0
chr6	25761999	25761999	G	T	exonic	SLC17A4	.	nonsynonymous SNV	SLC17A4:NM_005495:exon2:c.G37T:p.D13Y,	.	.	433	1080	9	0	0	9	0.00414938	.	.	2340078	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.976	D	0.731	P	0.001	N	1.000	N	0	N	-0.31	T	-0.843	T	0.176	T	0.154	1.560	11.17	-0.913	-0.194	0.471	5.993	0.229	0.0156294671014	.	.	0.0005	9.641e-05	0.0013	0	0.0002	0.0006	0.0022	6.116e-05	0.0004075	63	154602	rs143424660	0.0005	0.0005	0.0005	0.0005	0.0023	0.0005	0.0005	0.0013	0.0011	0.0001	0.0011	0.0028	0	5.617e-05	0.0023	0.0005	0.0008	0.0002	0.0006	0.0006	0.0006	0.0005	0.0016	0.0005	0.0004	0.0011	0.0010	2.406e-05	0	0.0016	0.0040	0.0002	0	0.0034	0.0006	0.0019	0.0002	0.008	0.58626	D	0.016	0.60972	D	0.958	0.54977	D	0.438	0.45631	B	0.001490	0.00791	N	3.473650	1	0.08975	N	0.345	0.11182	N	-0.31	0.68030	T	-2.9	0.60827	D	0.206	0.22870	-0.8428	0.52460	T	0.176	0.52037	T	10	0.01386109	0.00293	T	0.015629	0.36469	T	0.229	0.52916	.	.	0.37568098594	0.37176	0.42803958335129305	0.42720	0.135075783952	0.15223	0.268635213375	0.05964	T	0.149937	0.48918	T	-0.428246	0.01519	T	-0.469706	0.25548	T	0.0681280327577997	0.08387	T	0.493751	0.15260	T	0.09663421	0.22764	0.11942261	0.28824	0.09663421	0.22764	0.11942261	0.28824	-6.022	0.46464	T	.	.	0.082	0.08899	B	.	.	1.895600	0.24075	16.26	0.82494463703240095	0.14222	0.04367	0.09940	N	AEFBI	0.091053	0.18447	N	-0.635765753794114	0.17878	0.9236793	-0.804943136868292	0.14376	0.7508268	6.23045122054681E-4	0.07482	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.23	-0.913	0.09966	0.480000	0.21954	1.514000	0.27045	0.676000	0.76740	0.000000	0.06391	0.002000	0.18203	0.017000	0.10941	0.1887:0.4711:0.3402:0.0	5.993	0.18706	606	0.67383	.	.	.	.	.	.	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	1703.98	34	chr6	25761999	.	G	T	1703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.200e-02;DP=823;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-4.680e-01;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,47:125:99:0|1:25761998_G_GT:1718,0,3134:25761998	20	0	1	0
chr6	25762001	25762001	C	A	exonic	SLC17A4	.	nonsynonymous SNV	SLC17A4:NM_005495:exon2:c.C39A:p.D13E,	.	.	432	1081	9	0	0	9	0.00414556	.	.	2340079	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.03	B	0.031	B	0.001	N	1.000	N	0	N	-0.16	T	-1.037	T	0.042	T	0.026	-1.457	0.019	-8.46	-2.446	-1.300	4.559	0.041	0.0047206888041	.	.	0.0005	9.639e-05	0.0013	0	0.0002	0.0006	0.0022	6.118e-05	0.0004075	63	154602	rs150942022	0.0005	0.0005	0.0005	0.0005	0.0023	0.0005	0.0005	0.0013	0.0011	0.0001	0.0011	0.0028	0	5.617e-05	0.0023	0.0005	0.0008	0.0002	0.0006	0.0006	0.0006	0.0005	0.0016	0.0005	0.0004	0.0011	0.0010	2.407e-05	0	0.0016	0.0041	0.0002	0	0.0034	0.0006	0.0019	0.0002	0.703	0.04134	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.001490	0.00791	N	3.473650	1	0.08975	N	0.345	0.11182	N	-0.16	0.65378	T	-0.13	0.08971	N	0.108	0.09349	-1.0368	0.18295	T	0.042	0.18118	T	10	0.006346971	0.00143	T	0.004721	0.11753	T	0.041	0.10877	0.305	0.27485	0.137902524267	0.13322	0.05126253807932022	0.05068	0.0685600842673	0.07678	0.259500771761	0.04832	T	0.015135	0.12752	T	-0.602972	0.00140	T	-0.720688	0.04762	T	0.00904730794126588	0.00113	T	0.29617	0.05481	T	0.026142983	0.01635	0.022645758	0.00285	0.026142983	0.01635	0.022645758	0.00285	-3.348	0.14364	T	.	.	0.098	0.16275	B	.	.	-1.117574	0.00620	0.016	0.28101542504643928	0.01427	0.00787	0.03223	N	AEFBI	0.061203	0.11685	N	-2.06775497969595	0.00151	0.006451039	-2.13961945000669	0.00153	0.006711604	0.986420855573553	0.31061	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.23	-8.46	0.00822	-1.308000	0.02839	-3.557000	0.02697	-1.555000	0.00957	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1351:0.5029:0.1022:0.2597	4.559	0.11548	606	0.67383	.	.	.	.	.	.	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	1703.98	34	chr6	25762001	.	C	A	1703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.175;DP=821;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-6.980e-01;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,47:125:99:0|1:25761998_G_GT:1718,0,3134:25761998	20	0	1	0
chr6	26445783	26445783	G	A	exonic	BTN3A3	.	stopgain	BTN3A3:NM_006994:exon5:c.G513A:p.W171X	.	.	427	1030	62	3	0	68	0.0319549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	3.912	19.89	2.21	0.602	3.830	8.753	.	.	0.0042	0.00379393	0.0067	0.0002	0.0039	0.0017	0.0036	0.0091	0.0077	0.0068	0.006106	944	154602	rs138065289	0.0049	0.0049	0.0047	0.0050	0.0272	0.0048	0.0047	0.0237	0.0224	0.0006	0.0046	0.0438	0.0011	0.0034	0.0272	0.0039	0.0079	0.0061	0.0050	0.0050	0.0048	0.0052	0.0073	0.0047	0.0046	0.0054	0.0052	0.0008	0	0.0050	0.0404	0.0031	0.0022	0.0272	0.0059	0.0132	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.107	0.10911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.119179	0.33259	T	0.0617223	0.74359	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;.;.;.	High;.;.;.;.	7.640204	0.96718	36	0.95603367325376121	0.27344	0.70695	0.34698	D	AEFGBI	0.038152	0.05356	N	0.0775164942074517	0.45414	2.79844	-0.223272580553909	0.30704	1.731077	0.999951148205625	0.48110	0.638212	0.43195	0	0.601644	0.50151	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	3.1	2.21	0.27042	5.237000	0.65185	3.462000	0.38521	0.526000	0.24426	1.000000	0.71638	0.890000	0.27818	0.458000	0.28074	0.0:0.2347:0.7652:0.0	8.753	0.33788	671	0.60868	Immunoglobulin-like domain;.;.;Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	rs138065289	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	4537.98	88	chr6	26445783	.	G	A	4537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.13;DP=1487;ExcessHet=0.0000;FS=0.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=1.06;QD=14.05;ReadPosRankSum=0.409;SOR=0.748	GT:AD:DP:GQ:PL	0/1:153,170:323:99:4552,0,3867	20	0	1	0
chr6	28435906	28435906	T	C	exonic	ZSCAN23	.	nonsynonymous SNV	ZSCAN23:NM_001012455:exon2:c.A361G:p.T121A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.128	B	0.042	B	0.133	N	1.000	N	0.61	N	3.44	T	-0.928	T	0.003	T	0.052	1.035	9.229	-0.255	-0.045	-0.773	3.407	0.072	0.00108397699204	.	0.000798722	0.0008	0	0.0003	0.0001	0	9.191e-05	0.0012	0.0055	0.0006339	98	154602	rs369000893	0.0003	0.0003	0.0002	0.0005	0.0044	0.0003	0.0003	0.0040	0.0038	0	0.0007	0.0009	2.519e-05	0	0.0003	2.339e-05	0.0005	0.0044	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0001	0.0036	0.0031	0	0	0.0003	0.0009	0	0	0	2.941e-05	0	0.0052	0.237	0.17881	T	0.127	0.35082	T	0.003	0.11197	B	0.003	0.08700	B	0.133222	0.18558	N	0.440957	1	0.08975	N	0.48	0.13178	N	3.44	0.05375	T	-2.73	0.58085	D	0.126	0.11912	-0.9278	0.44458	T	0.003	0.00832	T	10	0.007630825	0.00173	T	0.001084	0.01263	T	0.072	0.21020	.	.	0.250039746154	0.24611	0.16612402364398482	0.16532	0.255294500027	0.28121	0.462987750769	0.33720	T	0.02166	0.16829	T	-0.711602	0.00031	T	-0.79454	0.02042	T	0.0112087393638528	0.00165	T	0.391661	0.09743	T	0.08947653	0.20906	0.07341964	0.15953	0.08947653	0.20906	0.07341964	0.15953	-3.845	0.21478	T	.	.	0.119	0.24363	B	.	.	0.882319	0.12556	9.084	0.92495483802694345	0.21931	0.01064	0.03948	N	AEFBI	0.043401	0.06855	N	-1.06657423351384	0.07266	0.337027	-1.06001535151735	0.08498	0.4181905	0.00441953795529767	0.10545	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.62	-0.255	0.12346	-0.259000	0.08742	-2.175000	0.04103	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.0:0.2379:0.2195:0.5426	3.407	0.06921	624	0.65661	SCAN domain|SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1722.98	36	chr6	28435906	.	T	C	1722.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=962;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=0.811;SOR=0.706	GT:AD:DP:GQ:PL	0/1:111,71:182:99:1737,0,2895	20	0	1	0
chr6	29397609	29397609	A	C	exonic	OR12D2	.	nonsynonymous SNV	OR12D2:NM_013936:exon1:c.A910C:p.I304L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.0	B	0.002	B	0.774	N	1.000	N	-0.355	N	1.61	T	-0.954	T	0.007	T	0.099	0.974	8.974	-2.78	-0.822	.	2.200	0.007	0.00173146069727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.774222	0.09523	N	0.879155	0.999997	0.08975	N	-0.595	0.02246	N	.	.	.	.	.	.	.	.	-0.9541	0.40256	T	0.007	0.02360	T	10	0.06357747	0.08303	T	0.001731	0.02908	T	.	.	0.393	0.41770	.	.	0.07115039063054068	0.07052	.	.	0.347330212593	0.17529	T	0.001486	0.00934	T	-0.363354	0.03944	T	-0.759709	0.03123	T	0.039015582730998	0.03513	T	0.266073	0.04370	T	0.06404379	0.13547	0.04895497	0.07378	0.06404379	0.13547	0.04895497	0.07378	-2.776	0.07964	T	.	.	0.072	0.04316	B	.;.	.;.	-0.276118	0.02723	0.359	0.8635056003497118	0.16477	0.01511	0.04995	N	AEFBI	0.029800	0.02881	N	-1.36529025257687	0.02969	0.1319363	-1.35176829231769	0.03785	0.1772732	3.74122897934771E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.94	-2.78	0.05512	-0.644000	0.05512	.	.	0.449000	0.21268	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3457:0.1731:0.3615:0.1197	2.200	0.03681	814	0.42100	.;.	.	.	.	.	.	Uncertain significance	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	1674.98	41	chr6	29397609	.	A	C	1674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.98;DP=1324;ExcessHet=0.0000;FS=4.803;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=-9.890e-01;SOR=1.181	GT:AD:DP:GQ:PL	0/1:71,59:130:99:1689,0,1911	20	0	1	0
chr6	29942795	29942795	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon2:c.C112T:p.R38W	.	.	1	1321	200	0	0	200	0.070373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.98	D	0.690	U	0.991	N	3.54	H	5.54	T	-0.994	T	0.009	T	0.742	2.152	13.15	1.87	0.363	0.209	5.323	0.141	.	.	.	0.0603	0.0995	0.1022	0.0272	0.0692	0.0516	0.0599	0.0590	0.0488804	7557	154602	rs45569434	6.38e-05	0.0006	3.982e-05	8.774e-05	0.0003	5.181e-05	4.787e-05	0.0001	0.0001	0.0001	0.0003	0.0002	0.0001	0.0001	0	5.282e-05	5.858e-05	1.255e-05	1.763e-05	0.0004	1.698e-05	1.832e-05	3.158e-05	2.93e-06	1.1e-06	.	.	3.158e-05	0	0	0	0	0	0	1.921e-05	0	0	0.0	0.91255	D	0.027	0.55341	D	1.0	0.90584	D	0.98	0.74843	D	0.690295	0.10182	U	0.758419	0.991328	0.24050	N	.	.	.	5.54	0.00885	T	-5.95	0.90140	D	0.086	0.09631	-0.9942	0.31512	T	0.009	0.03011	T	10	0.009814292	0.00220	T	.	.	.	0.141	0.37795	.	.	.	.	0.2815732018754056	0.28070	0.458621484478	0.45471	0.351919740438	0.18205	T	0.028248	0.20504	T	0.0221942	0.54678	T	-0.205896	0.54087	T	0.132723840102629	0.15631	T	0.657134	0.26688	T	0.38850322	0.59925	0.5650758	0.74827	0.38850322	0.59926	0.5650758	0.74828	-10.028	0.74079	D	.	.	0.146	0.39271	B	.;.;.;.;.	.;.;.;.;.	3.559205	0.50069	22.9	0.99688396903793897	0.79775	0.02454	0.06901	N	AEFDGBHCI	0.351151	0.44436	N	0.195067772507188	0.50963	3.281393	-0.0380896100270192	0.38011	2.23339	0.999999980882174	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	3.72	1.87	0.24559	0.353000	0.19868	.	.	0.397000	0.20528	0.010000	0.18352	0.000000	0.08366	0.029000	0.12982	0.0:0.6744:0.2073:0.1183	5.323	0.15197	862	0.33134	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	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	0.119	926.44	142	chr6	29942795	.	C	T	926.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-8.950e-01;DP=2773;ExcessHet=1.1607;FS=4.085;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=57.24;MQRankSum=-6.125e+00;QD=1.24;ReadPosRankSum=2.87;SOR=0.953	GT:AD:DP:GQ:PL	0/1:111,13:124:99:212,0,4493	16	0	5	0
chr6	29943542	29943542	G	0	exonic	HLA-A	.	.	.	.	.	2	437	1008	1	74	1084	0.536093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6146.8	107	chr6	29943542	.	G	T,*	6146.8	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-1.114e+00;DP=2095;ExcessHet=14.4320;FS=2.349;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=58.53;MQRankSum=-3.892e+00;QD=4.14;ReadPosRankSum=1.73;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,24,0:107:99:.:.:437,0,2432,686,2504,3190	6	0	13	1
chr6	29944308	29944308	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon4:c.C806T:p.A269V	.	.	3	1389	128	2	0	132	0.0453608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.996	D	0.021	N	0.944	N	1.505	L	4.18	T	-1.049	T	0.013	T	0.464	1.395	10.60	3.69	2.070	-0.097	11.152	0.081	.	.	.	0.0410	0.0786	0.0841	0.0011	0.0347	0.0310	0.0497	0.0527	0.0001921	5	26028	rs148794540	0.0013	0.0063	0.0011	0.0015	0.0041	0.0012	0.0012	0.0037	0.0036	0.0021	0.0033	0.0010	5.875e-05	0.0023	0.0004	0.0009	0.0015	0.0041	0.0010	0.0057	0.0012	0.0008	0.0021	0.0009	0.0008	0.0016	0.0015	0.0021	0	0.0012	0.0016	0.0003	0.0004	0	0.0006	0.0023	0.0003	0.028	0.46129	D	0.041	0.50809	D	0.029	0.90584	B	0.02	0.84481	B	0.021307	0.26859	N	0.171004	0.944011	0.26704	N	.	.	.	4.18	0.02743	T	-2.33	0.54059	N	0.085	0.09631	-1.0492	0.14621	T	0.013	0.04890	T	10	0.0030664504	0.00051	T	.	.	.	0.081	0.23632	.	.	.	.	0.09802837896223301	0.09733	0.832682807749	0.67689	0.369983077049	0.20830	T	0.026582	0.19643	T	-0.179179	0.23858	T	-0.495155	0.22852	T	0.0270032397942615	0.01544	T	0.347765	0.07665	T	0.39151996	0.60140	0.24605103	0.50105	0.39151996	0.60140	0.24605103	0.50104	-8.43	0.63965	D	.	.	0.158	0.35034	B	.;.;.;.;.	.;.;.;.;.	2.278150	0.29126	18.02	0.89634627430455549	0.18967	0.11996	0.16994	N	AEFGBCI	0.290915	0.40218	N	-0.149922629522064	0.35236	2.02149	-0.167087891439065	0.32757	1.866744	0.999999942386165	0.74766	0.67177	0.52595	0	0.685571	0.66316	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.69	3.69	0.41483	-0.929000	0.04084	.	.	0.429000	0.20894	0.000000	0.06391	0.000000	0.08366	0.232000	0.22788	0.0:1.0:0.0:0.0	11.152	0.47687	862	0.33134	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs148794540	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3025.68	137	chr6	29944308	.	C	T	3025.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.660;DP=3139;ExcessHet=0.3300;FS=21.319;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=42.63;MQRankSum=-3.310e-01;QD=6.68;ReadPosRankSum=0.494;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,48:157:99:0|1:29944308_C_T:1324,0,4120:29944308	18	0	3	0
chr6	30561923	30561923	C	T	exonic	PRR3	.	nonsynonymous SNV	PRR3:NM_001077497:exon2:c.C196T:p.R66W	.	.	426	1063	33	0	0	33	0.0152849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.002	B	0.003	B	0.304	N	1.000	N	0.345	N	0.86	T	-1.025	T	0.021	T	0.233	1.168	9.753	-0.97	-0.039	0.024	0.341	0.038	.	0.0046	0.00678914	0.0061	0.0017	0.0033	0.0169	0.0011	0.0068	0.0064	0.0036	0.005388	833	154602	rs75541627	0.0057	0.0057	0.0058	0.0057	0.0357	0.0056	0.0056	0.0342	0.0336	0.0008	0.0024	0.0075	0.0357	0.0012	0.0062	0.0053	0.0053	0.0034	0.0041	0.0041	0.0042	0.0039	0.0177	0.0038	0.0037	0.0148	0.0137	0.0013	0.0011	0.0036	0.0066	0.0177	0.0009	0.0034	0.0052	0.0066	0.0033	0.051	0.39575	T	0.021	0.61642	D	0.001	0.09854	B	0.001	0.08700	B	0.303940	0.14549	N	0.575164	0.999974	0.18612	N	0.11	0.08516	N	0.86	0.47477	T	-2.37	0.64710	N	0.24	0.29774	-1.0253	0.21985	T	0.021	0.09056	T	10	0.0036749542	0.00067	T	.	.	.	0.038	0.09825	.	.	0.236890367714	0.23314	0.1353660463522554	0.13460	0.35954593402	0.37645	0.448106825352	0.31685	T	0.078163	0.35827	T	-0.558028	0.00261	T	-0.534119	0.18878	T	0.0101226880329522	0.00136	T	.	.	.	0.069881305	0.15346	0.045393888	0.06098	0.069881305	0.15346	0.045393888	0.06098	-3.18	0.15354	T	.	.	0.084	0.14842	B	.;.	.;.	1.986593	0.25238	16.69	0.934054647915873	0.23166	0.07150	0.13175	N	AEFBCI	0.069741	0.13818	N	-0.995699639391774	0.08696	0.4086778	-0.959403942635411	0.10706	0.5409046	0.999675892065676	0.41644	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.95	-0.97	0.09780	0.029000	0.13555	.	.	-0.171000	0.11205	0.089000	0.22556	0.693000	0.26187	0.990000	0.65344	0.2929:0.287:0.131:0.2891	0.341	0.00311	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	986.98	34	chr6	30561923	.	C	T	986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.949;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-3.350e-01;SOR=0.695	GT:AD:DP:GQ:PL	0/1:54,37:91:99:1001,0,1501	20	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	1|2:1,427,382:810:99:1|0:31028710_GACC_G:33219,15916,15978,17368,0,16491:31028710	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|1:721,166,0,0:887:99:0|1:31029812_T_G:2409,0,28839,4578,29266,33844,4578,29266,33844,33844:31029812	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|1:721,166,0,0:887:99:0|1:31029812_T_G:2409,0,28839,4578,29266,33844,4578,29266,33844,33844:31029812	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|1:759,273,0:1032:99:0|1:31029812_T_G:2605,0,30896,4886,31503,36388:31029812	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|1:785,269,0:1054:99:0|1:31029812_T_G:2505,0,32274,4864,32875,37739:31029812	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|1:785,269,0:1054:99:0|1:31029812_T_G:2505,0,32274,4864,32875,37739:31029812	15	0	2	0
chr6	31029842	31029842	-	CTG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4411_4412insCTG:p.T1471_G1472insA	.	.	425	1038	57	0	2	59	0.0267229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.278e-05	0	0	0	.	0	0	0.0001	.	.	.	rs749779546	0.0019	0.0028	0.0019	0.0020	0.0037	0.0019	0.0018	0.0032	0.0030	0.0008	0.0037	0.0027	0.0032	0.0121	0.0027	0.0015	0.0024	0.0014	0.0016	0.0039	0.0015	0.0017	0.0030	0.0014	0.0014	0.0023	0.0020	0.0003	0.0049	0.0030	0.0012	0.0004	0.0046	0.0037	0.0017	0.0015	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3883.76	583	chr6	31029842	.	A	ACTG	3883.76	.	AC=2;AF=0.050;AN=40;BaseQRankSum=0.430;DP=13550;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=59.63;MQRankSum=-6.315e+00;QD=2.12;ReadPosRankSum=-9.466e+00;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:758,250:1008:99:0|1:31029812_T_G:2133,0,31245:31029812	18	0	2	1
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|1:754,185,0:939:99:0|1:31029812_T_G:1415,0,31105,3685,31542,35226:31029812	14	0	2	1
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	0/1:146,125,0:271:99:.:.:2950,0,3640,3389,4015,7403	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|1:83,64:147:99:0|1:31269990_T_C:2438,0,3293:31269990	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|1:91,73,0:164:99:0|1:31270056_T_C:2530,0,3447,2804,3666,6471:31270056	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|1:115,34:149:99:0|1:31270154_CAGA_C:1081,0,4726:31270154	12	1	8	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	0/1:175,31,0,0:206:99:.:.:467,0,7163,994,7256,8250,994,7256,8250,8250	0	0	16	0
chr6	31271295	31271295	G	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C397T:p.L133F	.	.	0	1434	88	0	0	88	0.02977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.998	D	.	.	1.000	N	1.38	L	9.43	T	-0.970	T	0.039	T	0.525	1.795	11.96	-2.84	-0.764	-1.782	3.235	0.011	0.00217142621672	.	.	0.0017	0	0.0010	0	0.0003	0.0020	0.0047	0.0033	3.84e-05	1	26028	rs201232509	4.189e-05	0.0006	3.548e-05	4.826e-05	0.0008	3.193e-05	2.85e-05	0.0005	0.0004	0	0.0008	5.85e-05	0	5.905e-05	0	1.691e-05	0	7.077e-05	1.456e-05	0.0002	0	3.043e-05	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.129	0.26852	T	0.261	0.22962	T	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	0.999994	0.08975	N	.	.	.	9.43	0.00008	T	-2.12	0.49187	N	0.103	0.09490	-0.9700	0.37200	T	0.039	0.16892	T	9	0.053365707	0.05516	T	0.002171	0.04071	T	0.149	0.39377	.	.	0.15556083564	0.15200	0.05197114042866421	0.05139	1.46494527933	0.86431	0.243654131889	0.03128	T	0.03788	0.24637	T	-0.190747	0.22149	T	-0.511772	0.21132	T	0.0786905586719513	0.09819	T	0.244676	0.09330	T	.	.	.	.	.	.	.	.	-5.97	0.46028	T	.	.	0.142	0.31177	B	.;.;.	.;.;.	1.437331	0.18565	13.80	0.97521242843416844	0.34405	0.01752	0.05517	N	ALL	0.145460	0.26868	N	-0.848663386786969	0.12082	0.5868329	-1.0804277795709	0.08086	0.3960589	0.999999936443293	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.638787	0.57140	0	.	.	2.81	-2.84	0.05408	-3.523000	0.00493	.	.	-0.940000	0.02096	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4266:0.0:0.2662:0.3072	3.235	0.06360	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	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	0.07143	1918.68	124	chr6	31271295	.	G	A	1918.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.18;DP=2573;ExcessHet=0.3300;FS=11.102;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.22;MQRankSum=-5.695e+00;QD=4.14;ReadPosRankSum=0.218;SOR=1.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,25:140:99:0|1:31271283_A_G:704,0,4744:31271283	18	0	3	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|1:103,15,0:118:99:0|1:31271337_G_T:301,0,4280,611,4325,4936:31271337	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|1:0,51,0:51:99:1|1:31356168_A_C:2295,154,0,2295,154,2295:31356168	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	0/1:39,40,0:79:99:.:.:1110,0,770,1226,890,2116	1	0	12	0
chr6	31356389	31356389	G	A	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.C397T:p.L133F,	.	.	10	1431	80	1	0	82	0.0278533	.	.	2822865	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.29	T	0.005	B	0.013	B	.	.	1.000	N	1.6	L	9.43	T	-0.969	T	0.001	T	0.569	0.516	6.799	-2.16	-0.411	-0.546	5.008	0.140	.	0.0041	0.00638978	0.0074	0.0006	0.0080	0.0003	0.0012	0.0095	0.0134	0.0078	0.0062548	967	154602	rs41558819	0.0010	0.0030	0.0010	0.0011	0.0076	0.0010	0.0009	0.0048	0.0039	0.0030	0.0019	0.0214	0	0.0002	0.0076	0.0005	0.0021	0.0018	0.0001	0.0027	3.967e-05	0.0002	0.0005	4.008e-05	2.601e-05	9.181e-05	3.756e-05	0	0	0.0005	0.0022	0	0	0	7.945e-05	0	0	0.122	0.54683	T	0.293	0.29945	T	0.005	0.12996	B	0.013	0.16460	B	.	.	.	.	0.999999	0.08975	N	.	.	.	9.43	0.00008	T	-2.31	0.51319	N	0.173	0.18512	-0.9694	0.37324	T	0.001	0.00438	T	9	0.008583397	0.00194	T	.	.	.	0.140	0.37593	.	.	0.0138822411134	0.00435	0.027354080535157824	0.02685	0.241525953006	0.26679	.	.	.	0.024715	0.18622	T	-0.504179	0.00542	T	-0.484671	0.23951	T	0.0032787161966323	0.00035	T	0.359464	0.10645	T	0.25326553	0.48348	0.1667133	0.38500	0.25326553	0.48348	0.1667133	0.38499	-6.628	0.51267	T	.	.	0.112	0.31253	B	.;.;.	.;.;.	0.971080	0.13483	9.992	0.93170873193506787	0.22827	0.01842	0.05707	N	ALL	0.081868	0.16572	N	-1.25342463206928	0.04255	0.1916679	-1.32756566347898	0.04078	0.1915775	0.999999866091929	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	-2.16	0.06684	-0.457000	0.06821	.	.	-1.964000	0.00474	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3627:0.0:0.4948:0.1425	5.008	0.13642	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	832.68	63	chr6	31356389	.	G	A	832.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.83;DP=1405;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.39;MQRankSum=-5.224e+00;QD=4.63;ReadPosRankSum=-7.810e-01;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,10:63:99:0|1:31356389_G_A:217,0,2168:31356389	18	0	3	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	1|2:0,6,30:36:99:0|1:31356389_G_A:1512,1260,1242,252,0,162:31356389	2	3	5	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8236.57	83	chr6	31356716	.	CA	C,*	8236.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=0.225;DP=1092;ExcessHet=0.3152;FS=5.506;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.99;MQRankSum=-6.619e+00;QD=10.81;ReadPosRankSum=-2.540e-01;SOR=1.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:43,0,29:72:99:0|1:31356711_C_CGGAG:1083,1212,3018,0,1806,1718:31356711	9	1	5	0
chr6	31356717	31356720	AGGT	0	exonic	HLA-B	.	.	.	.	.	38	705	540	138	101	917	0.366577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	6123.37	83	chr6	31356717	.	AGGT	A,*	6123.37	.	AC=7,9;AF=0.167,0.214;AN=42;BaseQRankSum=1.37;DP=1099;ExcessHet=0.3152;FS=5.478;InbreedingCoeff=0.1923;MLEAC=7,9;MLEAF=0.167,0.214;MQ=53.41;MQRankSum=-6.729e+00;QD=7.95;ReadPosRankSum=0.357;SOR=1.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,29,0:72:99:0|1:31356711_C_CGGAG:1083,0,1718,1212,1806,3018:31356711	9	1	3	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8459.57	86	chr6	31356719	.	GT	G,*	8459.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=1.98;DP=1112;ExcessHet=0.3152;FS=5.449;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.97;MQRankSum=-6.719e+00;QD=10.80;ReadPosRankSum=-1.130e-01;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:43,0,29:72:99:0|1:31356711_C_CGGAG:1083,1212,3018,0,1806,1718:31356711	9	1	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|1:0,96,0:98:99:1|1:31356748_C_*:4320,295,0,4120,294,4055:31356748	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	2|2:0,0,166:166:99:1|1:31356809_C_T:7440,7440,7440,500,500,0:31356809	0	5	0	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5842.28	59	chr6	31412383	.	TG	T,*	5842.28	.	AC=6,7;AF=0.143,0.167;AN=42;BaseQRankSum=-1.010e+00;DP=1486;ExcessHet=1.3217;FS=1.215;InbreedingCoeff=-0.0027;MLEAC=6,7;MLEAF=0.143,0.167;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=-1.114e+00;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,29,0:60:99:0|1:31412383_TG_T:866,0,1172,959,1260,2219:31412383	10	0	5	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	28073.94	58	chr6	31412384	.	G	GCT,*,GCTGCTGCTGCT	28073.94	.	AC=14,13,5;AF=0.333,0.310,0.119;AN=42;BaseQRankSum=1.31;DP=1521;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=14,13,5;MLEAF=0.333,0.310,0.119;MQ=60.00;MQRankSum=0.00;QD=21.78;ReadPosRankSum=-1.530e-01;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,31,29,0:60:99:1|0:31412383_TG_T:2736,1067,1097,1304,0,1172,2567,1159,1303,2594:31412383	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|1:97,29:126:99:0|1:31625601_T_C:474,0,3272:31625601	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|1:97,29,0:126:99:0|1:31625601_T_C:474,0,3272,764,3358,4122:31625601	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|1:97,29,0:126:99:0|1:31625601_T_C:474,0,3272,764,3358,4122:31625601	0	0	18	2
chr6	31954626	31954631	CGATCC	-	exonic	NELFE	.	nonframeshift deletion	NELFE:NM_002904:exon7:c.666_671del:p.D227_R228del,	.	.	422	1016	78	6	0	90	0.0424128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00579073	0.0094	0.0007	0.0115	0.0004	0.0022	0.0123	0.0137	0.0087	0.00146	38	26028	rs202172278	0.0067	0.0067	0.0062	0.0071	0.0436	0.0066	0.0065	0.0392	0.0374	0.0010	0.0126	0.0786	0.0004	0.0018	0.0436	0.0047	0.0122	0.0087	0.0072	0.0071	0.0070	0.0074	0.0151	0.0068	0.0067	0.0134	0.0128	0.0010	0	0.0151	0.0773	0.0006	0.0011	0.0451	0.0069	0.0159	0.0043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	7972.64	42	chr6	31954625	.	TCGATCC	T	7972.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.08;DP=1264;ExcessHet=0.3300;FS=1.122;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=-7.130e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/1:75,70:145:99:2698,0,2922	18	0	3	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	0/4:26,0,0,0,24:50:99:889,968,2005,968,2005,2005,968,2005,2005,2005,0,1037,1037,1037,965	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	0/4:26,0,0,0,24:50:99:889,968,2005,968,2005,2005,968,2005,2005,2005,0,1037,1037,1037,965	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	0/4:26,0,0,0,24:50:99:889,968,2005,968,2005,2005,968,2005,2005,2005,0,1037,1037,1037,965	0	1	4	0
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	0|3:178,16,0,23,0:217:99:0|1:32522156_T_*:430,294,7720,966,7768,8440,0,6802,7474,7405,966,7768,8440,7474,8440:32522156	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	0|2:179,16,23:218:99:0|1:32522156_T_*:427,294,7762,0,6844,7447:32522156	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	0|1:179,23,16:218:99:0|1:32522156_T_*:427,0,7403,294,6801,7718:32522156	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	0|2:102,0,22:124:99:0|1:32530183_CTT_C:596,903,5179,0,4275,4209:32530183	6	1	2	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	37739.64	115	chr6	32530184	.	T	G,*,A	37739.64	.	AC=12,22,3;AF=0.286,0.524,0.071;AN=42;BaseQRankSum=-6.320e-01;DP=2340;ExcessHet=1.1607;FS=2.132;InbreedingCoeff=-0.1351;MLEAC=12,23,2;MLEAF=0.286,0.548,0.048;MQ=55.50;MQRankSum=0.00;QD=16.93;ReadPosRankSum=1.02;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:102,0,22,0:124:99:0|1:32530183_CTT_C:596,903,5179,0,4275,4209,903,5179,4275,5179:32530183	0	3	1	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	53589.95	112	chr6	32530185	.	T	TGC,*,C	53589.95	.	AC=5,18,14;AF=0.119,0.429,0.333;AN=42;BaseQRankSum=0.157;DP=2296;ExcessHet=1.1607;FS=2.990;InbreedingCoeff=-0.1351;MLEAC=5,18,14;MLEAF=0.119,0.429,0.333;MQ=55.53;MQRankSum=0.00;QD=24.29;ReadPosRankSum=-2.360e-01;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:102,0,22,0:124:99:0|1:32530183_CTT_C:596,903,5179,0,4275,4209,903,5179,4275,5179:32530183	0	1	0	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	28452.78	197	chr6	32584171	.	G	*,T,A	28452.78	.	AC=8,10,1;AF=0.200,0.250,0.025;AN=40;BaseQRankSum=-1.190e-01;DP=4168;ExcessHet=6.7470;FS=3.321;InbreedingCoeff=-0.2727;MLEAC=8,10,1;MLEAF=0.200,0.250,0.025;MQ=53.84;MQRankSum=-1.211e+00;QD=8.51;ReadPosRankSum=1.10;SOR=0.481	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:233,44,0,0:277:99:0|1:32584161_G_A:1146,0,9651,1848,9784,11631,1848,9784,11631,11631:32584161	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|1:215,51,33:299:99:0|1:32584161_G_A:1479,0,9057,758,7656,9687:32584161	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|2:215,0,51:299:99:0|1:32584161_G_A:1479,2140,11253,0,9126,9057:32584161	3	0	1	0
chr6	32584184	32584184	G	0	exonic	HLA-DRB1	.	.	.	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,42,0,0:320:99:1|0:32584134_C_A:909,0,11547,1746,11673,13419,1746,11673,13419,13419:32584134	9	0	5	1
chr6	32584184	32584184	-	TC	exonic	HLA-DRB1	.	frameshift insertion	HLA-DRB1:NM_002124:exon2:c.294_295insGA:p.Q99Dfs*31,	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.94e-05	0	0	0	0	0.0001	0	0	0.0016905	44	26028	rs28986201	2.344e-06	2.239e-05	4.721e-06	0	3.106e-06	3.9e-07	1.5e-07	5.2e-07	1.9e-07	0	0	0	0	0	0	3.106e-06	0	0	0	3.383e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,42,0,0:320:99:1|0:32584134_C_A:909,0,11547,1746,11673,13419,1746,11673,13419,13419:32584134	9	0	5	1
chr6	32584185	32584185	C	0	exonic	HLA-DRB1	.	.	.	.	.	82	1001	166	64	209	503	0.128049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6470.95	227	chr6	32584185	.	C	CT,*	6470.95	.	AC=6,5;AF=0.150,0.125;AN=40;BaseQRankSum=2.10;DP=4843;ExcessHet=2.2868;FS=2.608;InbreedingCoeff=-0.1376;MLEAC=6,5;MLEAF=0.150,0.125;MQ=53.44;MQRankSum=-6.590e+00;QD=2.58;ReadPosRankSum=-3.178e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:279,46,0:325:99:1|0:32584134_C_A:1090,0,11577,1930,11715,13645:32584134	10	0	5	1
chr6	32584353	32584353	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-1G>0	.	.	.	.	171	315	497	500	39	1536	0.703808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	182961.39	194	chr6	32584353	.	C	A,*	182961.39	.	AC=26,3;AF=0.650,0.075;AN=40;BaseQRankSum=2.52;DP=6556;ExcessHet=2.5338;FS=2.208;InbreedingCoeff=-0.0889;MLEAC=27,3;MLEAF=0.675,0.075;MQ=54.10;MQRankSum=-6.249e+00;QD=32.11;ReadPosRankSum=2.64;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:297,183,0:480:99:0|1:32584353_C_A:6755,0,11798,7649,12349,19998:32584353	1	9	7	1
chr6	32584354	32584354	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-2G>0	.	.	.	.	175	338	454	378	177	1387	0.641569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	154460.88	195	chr6	32584354	.	C	G,A,*	154460.88	.	AC=18,5,1;AF=0.474,0.132,0.026;AN=38;BaseQRankSum=-2.830e-01;DP=6461;ExcessHet=1.8260;FS=3.068;InbreedingCoeff=-0.0814;MLEAC=19,5,1;MLEAF=0.500,0.132,0.026;MQ=53.66;MQRankSum=4.10;QD=29.69;ReadPosRankSum=-9.790e-01;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:296,184,0,0:480:99:0|1:32584353_C_A:6800,0,11753,7691,12307,19998,7691,12307,19998,19998:32584353	2	4	8	2
chr6	32584357	32584357	T	0	exonic	HLA-DRB1	.	.	.	.	.	88	536	775	35	88	933	0.440793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	58783.46	171	chr6	32584357	.	T	G,*	58783.46	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=-3.436e+00;DP=5785;ExcessHet=6.1794;FS=7.618;InbreedingCoeff=-0.3166;MLEAC=12,2;MLEAF=0.300,0.050;MQ=54.27;MQRankSum=1.64;QD=13.90;ReadPosRankSum=-3.470e-01;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:345,123,0:468:99:0|1:32584357_T_G:4107,0,14116,5145,14486,19632:32584357	7	0	12	1
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	77795.68	157	chr6	32584370	.	G	*,A	77795.68	.	AC=12,17;AF=0.316,0.447;AN=38;BaseQRankSum=3.82;DP=5453;ExcessHet=0.1204;FS=4.284;InbreedingCoeff=0.3021;MLEAC=13,18;MLEAF=0.342,0.474;MQ=52.94;MQRankSum=-1.218e+01;QD=17.06;ReadPosRankSum=-1.291e+00;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:267,112,61:440:99:0|1:32584366_C_T:3941,0,10868,2141,8644,13163:32584366	2	0	3	2
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12898.36	213	chr6	32641444	.	G	C,*	12898.36	.	AC=10,14;AF=0.238,0.333;AN=42;BaseQRankSum=3.77;DP=4027;ExcessHet=1.2156;FS=8.630;InbreedingCoeff=0.0278;MLEAC=10,14;MLEAF=0.238,0.333;MQ=56.94;MQRankSum=-9.014e+00;QD=4.08;ReadPosRankSum=-2.282e+00;SOR=0.880	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:227,0,60:287:99:0|1:32641430_C_T:1836,2519,12051,0,9532,9351:32641430	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|1:227,60,0:287:99:0|1:32641430_C_T:1836,0,9351,2519,9532,12051:32641430	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|2:220,0,66:286:99:0|1:32641430_C_T:2109,2771,11989,0,9217,9019:32641430	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|2:220,0,66:286:99:0|1:32641430_C_T:2109,2771,11989,0,9217,9019:32641430	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|2:262,0,47,0:309:99:0|1:32641476_G_A:1185,1974,12975,0,11001,10860,1974,12975,11001,12975:32641476	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|3:261,0,0,53:314:99:0|1:32641476_G_A:1229,2015,12934,2015,12934,12934,0,10919,10919,10759:32641476	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|3:261,0,0,53:314:99:0|1:32641476_G_A:1229,2015,12934,2015,12934,12934,0,10919,10919,10759:32641476	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|1:231,126,0:357:99:0|1:32664910_A_G:4512,0,9120,5207,9499,14706:32664910	5	3	5	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|2:0,0,75:75:99:1|1:32666523_G_C:3375,3375,3375,226,226,0:32666523	1	1	0	0
chr6	33320019	33320019	G	C	exonic	DAXX	.	nonsynonymous SNV	DAXX:NM_001254717:exon4:c.C1232G:p.A411G	.	.	391	1087	42	2	0	46	0.0207207	.	.	721989	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.38	T	0.033	B	0.036	B	0.016	N	1.000	N	0	N	3.55	T	-0.911	T	0.003	T	0.08	0.397	6.154	-1.84	-0.398	0.288	6.405	0.007	.	0.0068	0.00858626	0.0093	0.0017	0.0040	0.0069	0.0020	0.0096	0.0113	0.0208	0.0014553	225	154602	rs146304558	0.0086	0.0086	0.0082	0.0091	0.0195	0.0085	0.0085	0.0187	0.0184	0.0015	0.0041	0.0211	0.0028	0.0015	0.0147	0.0085	0.0079	0.0195	0.0061	0.0061	0.0065	0.0056	0.0195	0.0057	0.0056	0.0163	0.0151	0.0014	0	0.0045	0.0193	0.0035	0.0020	0.0102	0.0085	0.0066	0.0195	0.119	0.28520	T	0.26	0.25061	T	0.033	0.20350	B	0.036	0.22909	B	0.016189	0.01435	N	2.621750	1	0.08975	N	0.69	0.16971	N	3.55	0.04746	T	-0.06	0.07882	N	0.184	0.20793	-0.9107	0.46768	T	0.003	0.00864	T	10	0.0019952655	0.00028	T	.	.	.	0.007	0.00512	.	.	0.248133497653	0.24425	0.027666118405061925	0.02716	0.121482305257	0.13691	0.293815732002	0.09482	T	0.228165	0.59364	T	-0.661	0.00062	T	-0.706662	0.05469	T	0.000391966671527189	0.00003	T	.	.	.	0.034339648	0.03834	0.07082536	0.15094	0.05050827	0.09134	0.07082536	0.15093	-3.71	0.20969	T	.	.	0.082	0.13737	B	.;.;.;.	.;.;.;.	1.618229	0.20675	14.86	0.62516084524372117	0.06983	0.23889	0.22220	N	AEFGBHCI	0.064341	0.12488	N	-1.30553392466674	0.03611	0.1616189	-1.30836099513516	0.04321	0.203565	0.999932882190131	0.46732	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.635259	0.50027	0	.	.	4.03	-1.84	0.07387	0.387000	0.20445	0.426000	0.18273	0.650000	0.52971	0.271000	0.25055	0.184000	0.23444	0.944000	0.48669	0.1501:0.0:0.4955:0.3544	6.405	0.20865	587	0.69154	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	2863.68	38	chr6	33320019	.	G	C	2863.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.230e-01;DP=978;ExcessHet=0.3300;FS=4.934;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=-1.085e+00;SOR=0.750	GT:AD:DP:GQ:PL	0/1:52,41:93:99:1110,0,1471	18	0	3	0
chr6	33404029	33404029	G	A	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon6:c.G656A:p.R219Q,	.	.	412	1067	42	1	0	44	0.020202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.013	B	0.002	B	0.587	N	1.000	N	0.69	N	-1.33	T	-1.034	T	0.099	T	0.056	-0.001	4.009	0.297	0.173	-0.349	3.114	0.108	.	0.0066	0.00898562	0.0089	0.0020	0.0035	0.0065	0.0018	0.0093	0.0088	0.0199	0.0084928	1313	154602	rs61736175	0.0085	0.0085	0.0080	0.0090	0.0182	0.0083	0.0083	0.0174	0.0171	0.0017	0.0039	0.0223	0.0027	0.0014	0.0135	0.0083	0.0078	0.0182	0.0061	0.0061	0.0065	0.0056	0.0184	0.0057	0.0056	0.0153	0.0142	0.0016	0	0.0041	0.0199	0.0035	0.0020	0.0136	0.0085	0.0066	0.0184	0.62	0.05309	T	0.58	0.08505	T	0.013	0.16609	B	0.002	0.06944	B	0.587486	0.11082	N	0.821323	1	0.08975	N	1.32	0.33002	L	-1.33	0.79854	T	0.75	0.02007	N	0.086	0.06322	-1.0342	0.19109	T	0.099	0.36983	T	10	0.0032759309	0.00056	T	.	.	.	0.108	0.30607	.	.	0.758637590366	0.75644	0.18763110196947	0.18681	0.447445100316	0.44600	0.210918799043	0.00851	T	0.014264	0.12177	T	-0.541748	0.00327	T	-0.536024	0.18690	T	0.000301284946156845	0.00002	T	.	.	.	0.0146959955	0.00104	0.028547987	0.01101	0.0146959955	0.00104	0.028547987	0.01101	-4.48	0.30626	T	.	.	0.064	0.01622	B	.	.	0.249347	0.06286	2.745	0.89166591148968233	0.18567	0.08586	0.14495	N	AEFBCI	0.078759	0.15897	N	-1.02043871544408	0.08180	0.3826558	-1.00375510592156	0.09703	0.4842453	0.992500774861752	0.32863	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	0.297	0.15011	-0.310000	0.08175	-0.120000	0.11732	-0.123000	0.13640	0.002000	0.15269	0.000000	0.08366	0.040000	0.14268	0.3968:0.0:0.4018:0.2014	3.114	0.05984	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	4803.68	34	chr6	33404029	.	G	A	4803.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=3.62;DP=1025;ExcessHet=0.3300;FS=1.735;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=-3.650e-01;SOR=0.788	GT:AD:DP:GQ:PL	0/1:68,64:132:99:1830,0,1713	18	0	3	0
chr6	33657932	33657932	C	T	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon4:c.C283T:p.H95Y,	.	.	.	.	.	.	.	.	.	0.9955	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	P	0.304	B	0.000	D	1.000	D	3.07	M	-4.93	D	1.077	D	0.931	D	0.679	3.081	16.29	5.26	2.733	7.471	19.075	0.689	0.508431426648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-06	8.209e-06	8.171e-06	5.503e-06	8.996e-06	3.46e-06	2.52e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.996e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.62	0.39915	P	0.304	0.41178	B	0.000090	0.51296	D	0.170517	1	0.81001	D	2.375	0.68372	M	-4.93	0.98390	D	-5.45	0.85468	D	0.503	0.55886	1.077	0.98795	D	0.931	0.97726	D	9	0.7577114	0.76109	D	0.508431	0.95263	D	0.689	0.88679	0.546	0.66015	0.996908982623	0.99687	0.5414931872076013	0.54074	1.83023166883	0.92039	0.894413471222	0.95797	D	0.938162	0.99008	D	0.329833	0.85154	D	0.236006	0.84959	D	0.976984620094299	0.71631	D	0.985501	0.95043	D	0.63245314	0.74429	0.63005626	0.78421	0.63245314	0.74430	0.63005626	0.78422	-6.844	0.52885	T	.	.	0.463	0.64490	A	.;.	.;.	4.289231	0.65400	24.8	0.99441824915825283	0.64820	0.99629	0.98146	D	AEFDGBI	0.907086	0.86066	D	0.488273298594556	0.66402	4.945721	0.475262309476526	0.66356	4.941289	0.99999999999972	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	7.718000	0.83709	7.576000	0.60835	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.035000	0.13729	0.0:1.0:0.0:0.0	19.075	0.93139	537	0.73184	Inositol 1,4,5-trisphosphate/ryanodine receptor;Inositol 1,4,5-trisphosphate/ryanodine receptor	.	.	.	.	.	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	1399.98	33	chr6	33657932	.	C	T	1399.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.053;DP=916;ExcessHet=0.0000;FS=2.235;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=-1.054e+00;SOR=0.942	GT:AD:DP:GQ:PL	0/1:78,58:136:99:1414,0,1933	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	0/1:39,16:55:99:.:.:170,0,1036	3	0	9	9
chr6	38823023	38823023	G	C	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon26:c.G3058C:p.V1020L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.001	B	0.157	N	1.000	N	0.895	L	1.92	T	-1.026	T	0.019	T	0.244	0.123	4.659	4.67	1.344	1.200	10.758	0.059	0.00514649154307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.406e-06	1.368e-06	1.397e-06	1.416e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.71e-05	0	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.283	0.16412	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.157293	0.17774	N	0.562939	1	0.08975	N	0.755	0.19153	N	1.76	0.25996	T	-1.16	0.30762	N	0.305	0.34444	-1.0260	0.21756	T	0.019	0.07939	T	10	0.12629318	0.24008	T	0.005146	0.13063	T	0.059	0.16972	0.309	0.28128	0.306053231325	0.30222	0.34359101426781075	0.34273	0.119823001856	0.13497	0.355792880058	0.18771	T	0.012022	0.10639	T	-0.225984	0.17183	T	-0.562387	0.16153	T	0.123142540454865	0.14734	T	0.816518	0.47234	T	0.099084005	0.23380	0.08922389	0.20851	0.099084005	0.23380	0.08922389	0.20850	-3.638	0.18408	T	.	.	0.086	0.14339	B	.;.;.	.;.;.	1.131959	0.15185	11.66	0.882914130223446	0.17862	0.44141	0.27253	N	AEFBI	0.115120	0.22649	N	-0.578596659303789	0.19595	1.026816	-0.491150677872621	0.22396	1.216245	0.00270358071850419	0.09647	0.638212	0.43195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.53	4.67	0.58089	1.375000	0.33900	2.799000	0.34841	0.618000	0.50648	0.197000	0.24273	0.999000	0.35428	0.072000	0.16771	0.151:0.0:0.849:0.0	10.758	0.45447	464	0.78488	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2449.98	35	chr6	38823023	.	G	C	2449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.121e+00;DP=904;ExcessHet=0.0000;FS=11.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=-1.420e-01;SOR=0.435	GT:AD:DP:GQ:PL	0/1:113,95:208:99:2464,0,3092	20	0	1	0
chr6	39906581	39906581	G	C	exonic	MOCS1	.	nonsynonymous SNV	MOCS1:NM_001358529:exon10:c.C1639G:p.Q547E	Molybdenum cofactor deficiency A, Autosomal recessive	.	1	1510	10	1	0	12	0.00395778	.	.	307425	not_provided|Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_A|Combined_molybdoflavoprotein_enzyme_deficiency	MedGen:C3661900|MONDO:MONDO:0009643,MedGen:C1854988,OMIM:252150,Orphanet:308386,Orphanet:833|Human_Phenotype_Ontology:HP:0003570,MONDO:MONDO:0020480,MedGen:C0268119,OMIM:PS252150,Orphanet:833,Orphanet:99732	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.002	B	0.002	B	0.076	N	1.000	N	.	.	1.73	T	-0.970	T	0.009	T	0.12	-1.873	0.008	4.37	2.458	1.353	10.361	0.112	0.00977788782816	.	.	5.835e-05	0	0	0	0	7.608e-05	0	0.0001	4.53e-05	7	154602	rs777476892	6.5e-05	6.498e-05	6.264e-05	6.739e-05	0.0005	5.429e-05	5.043e-05	0.0001	7.555e-05	0	0	0	0	0	0.0005	7.194e-05	6.624e-05	9.275e-05	5.254e-05	5.253e-05	2.568e-05	8.066e-05	0.0002	2.556e-05	1.829e-05	4.764e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.075959	0.21192	N	0.502530	1	0.08975	N	-1.42	0.00581	N	1.72	0.26588	T	-0.2	0.10136	N	0.093	0.07262	-0.9701	0.37179	T	0.009	0.03227	T	9	0.09937081	0.18029	T	0.009778	0.25518	T	0.112	0.31546	.	.	0.350088858571	0.34617	0.21416255598992764	0.21332	.	.	0.342003196478	0.16738	T	0.086988	0.37845	T	-0.406601	0.02094	T	-0.629495	0.10453	T	0.0431905718997352	0.04273	T	0.858914	0.54988	D	0.05395961	0.10287	0.06651647	0.13637	0.05395961	0.10286	0.06651647	0.13636	-5.886	0.45316	T	0.07084530719593814	0.02770	0.075	0.05447	B	.;.	.;.	1.241804	0.16376	12.50	0.59307304620485624	0.06194	0.17178	0.19723	N	AEFDGBI	0.136288	0.25690	N	-0.469270861407401	0.23093	1.237637	-0.335940380307109	0.26948	1.491957	0.99781180461726	0.36062	0.719381	0.83141	0	0.588066	0.40923	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.28	4.37	0.51830	1.388000	0.34048	3.951000	0.40674	0.676000	0.76740	0.427000	0.26385	1.000000	0.68203	0.367000	0.26044	0.0:0.3321:0.543:0.1249	10.361	0.43174	851	0.35303	.;Molybdopterin cofactor biosynthesis C (MoaC) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1176.98	34	chr6	39906581	.	G	C	1176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.774e+00;DP=854;ExcessHet=0.0000;FS=0.906;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=-3.900e-01;SOR=0.521	GT:AD:DP:GQ:PL	0/1:40,44:84:99:1191,0,1367	20	0	1	0
chr6	43132637	43132637	C	T	exonic	PTK7	.	nonsynonymous SNV	PTK7:NM_001270398:exon7:c.C1202T:p.A401V	.	.	421	1092	9	0	0	9	0.00410397	.	.	2196508	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	1.0	D	1.0	D	0.000	D	1.000	D	2.45	M	-0.66	T	-0.476	T	0.271	T	0.845	4.679	25.8	4.14	1.124	5.378	11.549	0.508	0.190875591832	7.7e-05	0.000199681	2.139e-05	0.0002	0	0	0	0	0	0	1.94e-05	3	154602	rs188773646	1.879e-05	1.915e-05	1.105e-05	2.665e-05	0.0005	1.287e-05	1.103e-05	0.0001	7.575e-05	6.067e-05	0	3.901e-05	0	1.944e-05	0.0005	1.182e-05	1.678e-05	7.186e-05	2.626e-05	2.625e-05	0	5.37e-05	0.0004	8.14e-06	5.14e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0004	0.002	0.72154	D	0.001	0.92824	D	1.0	0.90584	D	0.995	0.97372	D	0.000009	0.62929	D	0.110957	0.999999	0.81001	D	2.275	0.64647	M	-0.66	0.72348	T	-2.95	0.66206	D	0.667	0.69037	-0.4763	0.69501	T	0.271	0.64256	T	10	0.6560336	0.69879	D	0.190876	0.86150	D	0.653	0.86936	.	.	0.728124826822	0.72571	0.9381717045838789	0.93797	0.725430536437	0.62450	0.553306281567	0.46323	T	0.421575	0.77292	T	0.265294	0.80015	D	0.143	0.79756	D	0.847413420677185	0.49944	D	0.905209	0.66592	D	0.3239999	0.54975	0.36087018	0.61521	0.3239999	0.54975	0.36087018	0.61521	-6.287	0.50655	T	.	.	0.334	0.58251	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.225197	0.63937	24.6	0.99925245183978184	0.99042	0.97188	0.73208	D	AEFDBI	0.733427	0.67987	D	0.326894976798901	0.57533	3.92094	0.330107554499793	0.57317	3.896909	0.999999924334721	0.74766	0.706548	0.73137	0	0.659912	0.62753	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.01	4.14	0.47821	5.454000	0.66392	4.938000	0.46187	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.9173:0.0:0.0827	11.549	0.49964	261	0.89765	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	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	1904.98	33	chr6	43132637	.	C	T	1904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.01;ReadPosRankSum=-3.787e+00;SOR=0.753	GT:AD:DP:GQ:PL	0/1:51,68:119:99:1919,0,1190	20	0	1	0
chr6	43603942	43603942	T	C	exonic	POLH	.	nonsynonymous SNV	POLH:NM_001291969:exon5:c.T443C:p.I148T	Xeroderma pigmentosum, variant type, Autosomal recessive	.	0	1500	22	0	0	22	0.00727995	.	.	896387	not_provided|Xeroderma_pigmentosum|Xeroderma_pigmentosum_variant_type	MedGen:C3661900|MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750,Orphanet:90342	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.867	P	0.269	B	0.066	N	0.971	D	0.805	L	-0.84	T	-0.839	T	0.151	T	0.399	3.859	19.60	5.62	2.131	7.427	15.481	0.439	0.0370857502828	0.0005	0.000798722	0.0011	9.612e-05	0.0003	0.0001	0.0002	0.0009	0.0011	0.0041	0.0010414	161	154602	rs147712217	0.0013	0.0013	0.0012	0.0014	0.0049	0.0013	0.0012	0.0045	0.0044	0.0002	0.0004	0.0003	2.52e-05	0.0002	0.0012	0.0012	0.0012	0.0049	0.0007	0.0007	0.0007	0.0007	0.0050	0.0006	0.0006	0.0034	0.0029	0.0002	0	0.0009	0	0.0004	0	0.0034	0.0008	0.0009	0.0050	0.009	0.57480	D	0.016	0.67890	D	0.867	0.47667	P	0.269	0.39840	B	0.066056	0.21837	N	0.460473	0.953	0.38846	D	1.34	0.33385	L	-0.84	0.74265	T	-3.12	0.63782	D	0.552	0.66873	-0.8393	0.52693	T	0.151	0.47962	T	10	0.013476521	0.00286	T	0.037086	0.57399	D	0.439	0.74306	.	.	0.894541215783	0.89349	0.6475634784784758	0.64691	0.40514499607	0.41401	0.297665178776	0.10053	T	0.365346	0.73078	T	-0.27801	0.10879	T	-0.171852	0.57273	T	0.0428584178205695	0.04212	T	0.859214	0.57956	D	0.4660157	0.65045	0.2937161	0.55400	0.5146165	0.67949	0.33418176	0.59246	-7.488	0.58171	T	.	.	0.136	0.29642	B	.;.	.;.	4.530419	0.71121	25.6	0.99784373698370799	0.87043	0.98551	0.83998	D	AEFBI	0.757867	0.69669	D	0.19781104852497	0.51094	3.293443	0.291114204816552	0.55020	3.665534	0.999999997008656	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.65145	0.50148	0	0.735409	0.98432	0	.	.	5.62	5.62	0.85714	7.459000	0.79833	7.896000	0.73301	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.809000	0.38129	0.0:0.0:0.0:1.0	15.481	0.75260	229	0.91079	.;.	.	.	.	.	.	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	939.98	34	chr6	43603942	.	T	C	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=791;ExcessHet=0.0000;FS=1.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.13;ReadPosRankSum=0.677;SOR=0.714	GT:AD:DP:GQ:PL	0/1:63,40:103:99:954,0,1543	20	0	1	0
chr6	45422775	45422783	GCGGCGGCT	-	exonic	RUNX2	.	nonframeshift deletion	RUNX2:NM_001278478:exon1:c.199_207del:p.A73_A75del	Cleidocranial dysplasia, Autosomal dominant;Cleidocranial dysplasia, forme fruste, dental anomalies only, Autosomal dominant;Cleidocranial dysplasia, forme fruste, with brachydactyly, Autosomal dominant;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1253741091	0	6.848e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	13028.27	37	chr6	45422774	.	GGCGGCGGCT	AGCGGCGGCT,G	13028.27	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-2.600e-02;DP=1348;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=17.82;ReadPosRankSum=2.23;SOR=0.665	GT:AD:DP:GQ:PL	1/1:9,115,0:124:99:3698,329,0,3709,345,3725	16	1	3	0
chr6	54124564	54124564	C	T	exonic	MLIP	.	nonsynonymous SNV	MLIP:NM_001281746:exon3:c.C311T:p.T104M	.	.	432	1085	5	0	0	5	0.00229885	.	.	2452195	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.99	D	0.556	P	0.041	N	1.000	N	0.345	N	2.17	T	-1.077	T	0.037	T	0.293	1.583	11.25	1.76	0.064	0.751	4.964	0.061	0.0209085108419	7.7e-05	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs374203719	2.121e-05	2.121e-05	1.633e-05	2.613e-05	0.0007	1.52e-05	1.324e-05	0.0002	0.0001	0	2.236e-05	0	0	0	0.0007	2.338e-05	0	0	4.602e-05	4.598e-05	1.285e-05	8.075e-05	0.0004	2.11e-05	1.528e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	1.47e-05	0	0	0.027	0.54683	D	0.038	0.57587	D	0.954	0.63424	P	0.332	0.49411	B	0.041150	0.23980	N	0.409557	1	0.08975	N	0.55	0.14455	N	1.81	0.48460	T	-1.67	0.39887	N	0.232	0.26111	-1.0769	0.07962	T	0.037	0.16073	T	10	0.058205187	0.06806	T	0.020909	0.43593	T	0.061	0.17616	.	.	0.107399877778	0.10242	0.14448329742903324	0.14371	0.0168988802729	0.01637	0.220798686147	0.01356	T	0.004233	0.24205	T	-0.298015	0.08847	T	-0.509488	0.21368	T	0.0718890327424557	0.08914	T	0.925307	0.72589	D	0.025950938	0.01591	0.048986528	0.07393	0.025950938	0.01591	0.048986528	0.07392	-5.038	0.39854	T	.	.	0.112	0.22098	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.521052	0.19527	14.31	0.99517904387585909	0.69040	0.02784	0.07493	N	AEFBI	0.138710	0.26008	N	-0.682229338520566	0.16528	0.8428967	-0.765411690419671	0.15345	0.8065413	1.98699645124237E-5	0.02871	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.48	1.76	0.23776	0.366000	0.20099	2.097000	0.30581	-0.187000	0.09635	0.021000	0.19753	0.796000	0.26906	0.140000	0.19946	0.636:0.1831:0.1809:0.0	4.964	0.13431	737	0.53483	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1836.98	35	chr6	54124564	.	C	T	1836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.282;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=0.359;SOR=0.679	GT:AD:DP:GQ:PL	0/1:56,68:124:99:1851,0,1443	20	0	1	0
chr6	63712471	63712471	A	T	exonic	PHF3	.	nonsynonymous SNV	PHF3:NM_001370349:exon15:c.A4619T:p.N1540I	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	0.237	N	1.000	N	0.805	L	2.16	T	-0.968	T	0.007	T	0.05	-0.886	0.468	-7.82	-1.062	-0.505	2.210	0.005	0.00374294474964	.	.	4.134e-05	0	0	0	0	6.014e-05	0.0011	0	4.53e-05	7	154602	rs538720054	2.326e-05	2.326e-05	1.77e-05	2.888e-05	0.0002	1.674e-05	1.477e-05	3.765e-05	2.662e-05	2.988e-05	2.237e-05	0	0	0	0.0002	2.069e-05	1.656e-05	8.115e-05	4.596e-05	4.593e-05	1.285e-05	8.057e-05	0.0006	2.108e-05	1.526e-05	0.0002	8.989e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0006	0.072	0.34982	T	0.126	0.35205	T	0.001	0.07471	B	0.001	0.04355	B	0.237250	0.15790	N	0.526318	1	0.08975	N	1.935	0.51832	L	2.16	0.19166	T	-1.38	0.34198	N	0.107	0.13911	-0.9683	0.37551	T	0.007	0.02478	T	9	0.036755472	0.01991	T	0.003743	0.08682	T	0.005	0.00259	0.208	0.12497	0.043077524339	0.03247	0.28724164885222697	0.28637	0.0935103000798	0.10561	0.296172618866	0.09832	T	0.027198	0.19967	T	-0.556945	0.00265	T	-0.778111	0.02511	T	0.039443909522794	0.03590	T	0.658834	0.26791	T	0.06287666	0.13181	0.051674526	0.08365	0.06287666	0.13180	0.051674526	0.08364	-4.192	0.26635	T	.	.	0.133	0.28863	B	.;.	.;.	0.619182	0.09878	6.637	0.36253163798156152	0.02321	0.14065	0.18203	N	AEFBI	0.072086	0.14374	N	-1.41216059047866	0.02531	0.1118918	-1.50352508620766	0.02317	0.1063686	0.999994535990272	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.54	-7.82	0.01069	-0.586000	0.05880	0.058000	0.14093	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3862:0.0811:0.3106:0.2221	2.210	0.03703	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	2391.98	40	chr6	63712471	.	A	T	2391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.139e+00;DP=898;ExcessHet=0.0000;FS=3.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.77;ReadPosRankSum=0.077;SOR=0.467	GT:AD:DP:GQ:PL	0/1:67,95:162:99:2406,0,1692	20	0	1	0
chr6	75138457	75138457	C	T	exonic	COL12A1	.	nonsynonymous SNV	COL12A1:NM_080645:exon14:c.G1729A:p.E577K	Bethlem myopathy 2	.	427	1083	12	0	0	12	0.00550964	.	.	455778	not_provided|Ullrich_congenital_muscular_dystrophy_2|Bethlem_myopathy_2	MedGen:C3661900|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470,Orphanet:75840|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,Orphanet:536516,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.878	P	0.546	P	0.000	D	0.992	D	1.965	M	-2.24	D	0.284	D	0.616	D	0.907	3.086	16.31	5.79	2.726	3.615	20.022	0.590	0.0571540393042	0.0007	0.000199681	0.0008	0.0001	0.0009	0	0	0.0010	0.0022	0.0012	0.000718	111	154602	rs200201449	0.0005	0.0005	0.0004	0.0005	0.0019	0.0005	0.0004	0.0011	0.0009	5.982e-05	0.0004	0.0053	0	0	0.0019	0.0003	0.0008	0.0012	0.0005	0.0005	0.0005	0.0004	0.0015	0.0004	0.0003	0.0007	0.0005	0.0001	0	0.0004	0.0072	0	0	0.0034	0.0004	0	0.0015	0.031	0.53172	D	0.028	0.61642	D	0.807	0.48285	P	0.344	0.49068	B	0.000000	0.84330	D	0.000000	0.992293	0.41606	D	2.98	0.85499	M	-2.26	0.87830	D	-1.37	0.38540	N	0.713	0.71942	0.284	0.87307	D	0.616	0.86431	D	10	0.03610739	0.01893	T	0.057154	0.66863	D	0.590	0.83636	.	.	0.956005400358	0.95553	0.666774553540997	0.66615	0.599886947289	0.55091	0.594975709915	0.52195	T	0.025985	0.47311	T	0.0909913	0.63301	D	0.317393	0.88980	D	0.0677321340080628	0.08330	T	0.979902	0.94158	D	0.23888248	0.46771	0.25632364	0.51330	0.23387119	0.46198	0.23323806	0.48507	-7.203	0.60647	T	0.4721309161829964	0.55238	0.317	0.54265	B	.;.;.;.;.	.;.;.;.;.	5.581303	0.92305	32	0.99813577759892969	0.89708	0.95148	0.63614	D	AEFBI	0.510484	0.53951	D	0.465479132832166	0.65087	4.778534	0.502282263181838	0.68143	5.179722	0.999999999932196	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.79	5.79	0.91751	3.684000	0.54403	7.592000	0.61280	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.281000	0.24041	0.0:1.0:0.0:0.0	20.022	0.97507	835	0.38313	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	2198.98	33	chr6	75138457	.	C	T	2198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.233e+00;DP=774;ExcessHet=0.0000;FS=2.995;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.71;ReadPosRankSum=-1.419e+00;SOR=0.405	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,59:89:99:0|1:75138457_C_T:2213,0,1062:75138457	20	0	1	0
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	1/1:1,19,0,0:20:36:808,36,0,815,57,836,815,57,836,836	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	1/1:1,19,0,0:20:36:808,36,0,815,57,836,815,57,836,836	3	8	1	0
chr6	84125104	84125104	G	A	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon27:c.C3950T:p.A1317V	.	.	438	1063	20	1	0	22	0.0102421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.873	P	0.544	P	0.000	D	1.000	N	1.95	M	2.19	T	-1.038	T	0.037	T	0.409	3.546	18.09	5.55	2.753	4.258	13.494	0.112	.	0.0002	0.00239617	0.0014	0	0.0002	0	0	0.0004	0	0.0084	0.0011837	183	154602	rs139232508	0.0007	0.0007	0.0004	0.0010	0.0091	0.0007	0.0007	0.0085	0.0083	8.978e-05	0.0002	0	5.042e-05	0	0.0073	0.0001	0.0008	0.0091	0.0004	0.0004	0.0002	0.0006	0.0094	0.0003	0.0003	0.0072	0.0064	9.633e-05	0	6.546e-05	0	0	0	0.0034	0.0002	0	0.0094	0.288	0.15984	T	0.324	0.21277	T	0.873	0.47975	P	0.544	0.49014	P	0.000182	0.48115	D	0.137278	1	0.08975	N	1.79	0.46772	L	2.19	0.18724	T	-0.73	0.22078	N	0.281	0.31814	-1.0383	0.17832	T	0.037	0.15856	T	10	0.0049034655	0.00105	T	.	.	.	0.112	0.31546	.	.	0.329540904979	0.32555	0.24963868248326895	0.24877	0.0871914898543	0.09831	0.403054893017	0.25494	T	0.02052	0.16142	T	-0.472851	0.00816	T	-0.447008	0.28028	T	0.0664122586300544	0.08138	T	0.677432	0.28627	T	0.06477105	0.13777	0.099049	0.23636	0.06477105	0.13777	0.099049	0.23635	-3.67	0.18876	T	.	.	0.117	0.23848	B	.;.;.	.;.;.	2.661118	0.34671	19.69	0.99766924631953646	0.85583	0.92167	0.55094	D	AEFBI	0.326000	0.42741	N	0.179476354235288	0.50214	3.213605	0.132889784414697	0.46240	2.873365	0.00925369653215098	0.11823	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.55	5.55	0.83298	4.742000	0.61798	8.528000	0.77447	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.009000	0.08673	0.0:0.0:0.8441:0.1559	13.494	0.60868	563	0.71062	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1095.98	33	chr6	84125104	.	G	A	1095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=767;ExcessHet=0.0000;FS=3.290;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=-2.400e-01;SOR=1.203	GT:AD:DP:GQ:PL	0/1:32,42:74:99:1110,0,731	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	0/1:50,29:79:92:.:.:92,0,518	6	0	13	2
chr6	99613969	99613969	A	G	exonic	PRDM13	.	nonsynonymous SNV	PRDM13:NM_021620:exon4:c.A1334G:p.K445R,	.	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.888	P	0.3	B	0.078	N	0.869	D	1.04	L	3.01	T	-0.985	T	0.011	T	0.169	2.486	14.27	3.74	1.562	4.303	11.582	0.099	0.0745984643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.186	0.28860	T	0.888	0.48822	P	0.3	0.41053	B	0.078142	0.21061	N	0.336432	0.868513	0.35518	D	2.295	0.65404	M	3.0	0.09167	T	-0.96	0.25551	N	0.327	0.36779	-0.9847	0.33903	T	0.011	0.04321	T	10	0.33617517	0.50762	T	0.074598	0.72082	D	0.099	0.28413	0.38	0.39645	0.462549850287	0.45878	0.4616628722417341	0.46084	.	.	0.905850112438	0.97063	D	0.006501	0.05931	T	-0.178747	0.23922	T	-0.494534	0.22916	T	0.897018551826477	0.54885	D	0.579642	0.20943	T	0.13467757	0.31283	0.236193	0.48884	0.13467757	0.31282	0.236193	0.48883	-2.151	0.03809	T	.	.	0.118	0.24088	B	.	.	3.744260	0.53636	23.4	0.99464300763130586	0.65996	0.82134	0.41409	D	AEFDGBHCI	0.484789	0.52466	N	-0.128959247039852	0.36134	2.084647	-0.20318376228341	0.31421	1.778108	0.999999999999145	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.74	3.74	0.42108	7.067000	0.76435	5.275000	0.48164	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.036000	0.13842	1.0:0.0:0.0:0.0	11.582	0.50151	812	0.42537	.	.	.	.	.	.	Uncertain significance	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	1088.98	33	chr6	99613969	.	A	G	1088.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.909;DP=940;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.55;ReadPosRankSum=0.332;SOR=0.715	GT:AD:DP:GQ:PL	0/1:68,46:114:99:1103,0,1646	20	0	1	0
chr6	112155682	112155682	G	C	exonic	LAMA4	.	nonsynonymous SNV	LAMA4:NM_001105206:exon15:c.C1842G:p.N614K	Cardiomyopathy, dilated, 1JJ, Autosomal dominant	.	1	1517	4	0	0	4	0.00131666	.	.	903878	Cardiomyopathy	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.38	T	1.0	D	0.998	D	0.000	D	1.000	D	1.59	L	2.78	T	-1.098	T	0.025	T	0.354	3.535	18.04	-2.69	-0.628	-0.213	10.824	0.179	0.012721450718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.026	0.55759	D	.	.	.	.	.	.	0.000000	0.84330	D	0.084922	0.919338	0.36631	D	.	.	.	2.78	0.11622	T	-2.8	0.59226	D	0.71	0.71321	-1.0976	0.04394	T	0.025	0.10866	T	10	0.4541854	0.58886	T	0.012721	0.31538	T	0.179	0.44899	0.38	0.39645	0.288352970974	0.28455	0.43044742118513357	0.42961	0.612211333373	0.55821	0.612780213356	0.54709	T	0.074609	0.34979	T	-0.171543	0.25002	T	-0.484186	0.24001	T	0.988904058933258	0.79181	D	0.813419	0.46649	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.447	0.68900	A	.;.;.;.	.;.;.;.	1.915584	0.24327	16.36	0.99623439846655615	0.75594	0.37549	0.25787	N	AEFGBCI	0.347676	0.44206	N	-0.229138371702725	0.31942	1.796284	-0.32523954170153	0.27285	1.513006	0.999958056345377	0.48110	0.730579	0.87903	0	0.59043	0.45803	0	0.602189	0.34648	0	0.648885	0.59868	0	.	.	5.42	-2.69	0.05668	-0.516000	0.06367	-1.551000	0.05189	-0.116000	0.14526	0.338000	0.25657	0.000000	0.08366	0.997000	0.79791	0.5313:0.0:0.4687:0.0	10.824	0.45823	762	0.50290	.;.;.;.	.	.	.	.	.	Uncertain significance	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	2094.98	34	chr6	112155682	.	G	C	2094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.990e-01;DP=878;ExcessHet=0.0000;FS=0.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=-1.843e+00;SOR=0.694	GT:AD:DP:GQ:PL	0/1:82,88:170:99:2109,0,1957	20	0	1	0
chr6	125751842	125751842	C	T	exonic	HEY2	.	nonsynonymous SNV	HEY2:NM_012259:exon2:c.C125T:p.T42I,	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.998	D	0.994	D	0.001	N	1.000	D	1.795	L	0.09	T	-0.620	T	0.301	T	0.533	4.054	20.8	5.61	2.633	6.833	19.623	0.297	0.0378108215583	.	.	2.475e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs200628721	3.079e-05	3.078e-05	3.541e-05	2.613e-05	0.0010	2.348e-05	2.095e-05	0.0005	0.0003	2.988e-05	0	0	0	0	0.0010	5.398e-06	0.0002	0.0002	1.972e-05	1.97e-05	0	4.036e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.006	0.61437	D	0.022	0.57587	D	0.998	0.73220	D	0.994	0.82059	D	0.001172	0.39978	N	0.204155	1	0.81001	D	2.135	0.59519	M	0.09	0.61443	T	-3.15	0.64132	D	0.602	0.62018	-0.6203	0.63976	T	0.301	0.67251	T	10	0.7402562	0.74907	D	0.037811	0.57842	D	0.297	0.61730	0.193	0.10437	0.912738722043	0.91186	0.7321549358155495	0.73160	0.625337483367	0.56714	0.71794706583	0.69747	T	0.54676	0.84580	D	-0.180815	0.23614	T	-0.205356	0.54138	T	0.278660636509232	0.24115	T	0.883212	0.60517	D	0.20977649	0.43254	0.2537794	0.51032	0.20977649	0.43254	0.2537794	0.51031	-12.251	0.86052	D	.	.	0.486	0.63928	A	.	.	4.848507	0.79229	27.1	0.99904032503479989	0.97502	0.98654	0.85187	D	AEFDBCI	0.843083	0.76014	D	0.72202213305271	0.81075	7.438295	0.726890485909773	0.84420	8.287017	1.0	0.98316	0.608746	0.35421	0	0.610034	0.51514	0	0.731467	0.93227	0	0.616125	0.45549	0	.	.	5.61	5.61	0.85347	5.736000	0.68239	7.628000	0.62604	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.623	0.95663	909	0.22467	.	.	.	.	.	.	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	532.98	34	chr6	125751842	.	C	T	532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.133e+00;DP=759;ExcessHet=0.0000;FS=0.948;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.51;ReadPosRankSum=-1.570e-01;SOR=0.941	GT:AD:DP:GQ:PL	0/1:46,25:71:99:547,0,1241	20	0	1	0
chr6	125927739	125927739	C	T	exonic	NCOA7	.	nonsynonymous SNV	NCOA7:NM_001199622:exon4:c.C431T:p.T144I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.7	M	0.85	T	-0.374	T	0.322	T	0.721	4.078	21.0	5.8	2.744	3.418	20.071	0.310	0.0337695859575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.046049	0.999991	0.58761	D	2.645	0.77386	M	0.85	0.47130	T	-4.55	0.78553	D	0.593	0.61341	-0.3737	0.72848	T	0.322	0.69099	T	10	0.5296869	0.63112	D	0.03377	0.55213	D	0.310	0.63162	0.542	0.65446	0.110392049598	0.10638	0.7361813659560693	0.73563	0.493758875756	0.47968	0.727325379848	0.71116	T	0.326126	0.69677	T	0.0912494	0.63330	D	-0.106703	0.62872	T	0.981613278388977	0.74012	D	0.966203	0.94055	D	0.912213	0.92502	0.8593696	0.92136	0.912213	0.92503	0.8593696	0.92136	-7.026	0.57596	T	.	.	0.909	0.86127	P	.;.;.;.;.	.;.;.;.;.	4.862997	0.79599	27.1	0.99875501728492933	0.95244	0.87302	0.46800	D	AEFBCI	0.314837	0.41958	N	0.790928341836536	0.85532	8.604846	0.755157991166596	0.86543	8.92262	0.999999978872137	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	4.226000	0.58405	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.071	0.97721	817	0.41665	TLDc domain|TLDc domain;TLDc domain|TLDc domain;.;TLDc domain|TLDc domain;TLDc domain|TLDc domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	417.94	33	chr6	125927739	.	C	T	417.94	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-5.703e+00;DP=1966;ExcessHet=0.6776;FS=168.175;InbreedingCoeff=-0.1056;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=1.72;SOR=10.928	GT:AD:DP:GQ:PL	0/1:143,35:178:36:36,0,2935	17	0	4	0
chr6	127447487	127447487	G	A	exonic	KIAA0408	.	nonsynonymous SNV	KIAA0408:NM_014702:exon5:c.C832T:p.P278S,	.	.	428	1081	13	0	0	13	0.00597701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.211	B	0.066	B	0.959	U	1.000	N	1.01	L	1.59	T	-0.974	T	0.017	T	0.14	-0.157	3.232	2.34	1.281	1.006	3.886	0.077	0.00904828938428	0.0005	0.000599042	0.0009	0	0.0008	0	0	0.0014	0.0033	0.0002	0.000815	126	154602	rs150477792	0.0007	0.0007	0.0007	0.0007	0.0194	0.0007	0.0007	0.0165	0.0154	0.0004	0.0013	0.0065	0	1.873e-05	0.0194	0.0005	0.0015	0.0004	0.0006	0.0006	0.0005	0.0007	0.0009	0.0005	0.0005	0.0005	0.0005	4.813e-05	0	0.0009	0.0063	0	0	0.0170	0.0007	0.0019	0.0004	0.501	0.07720	T	0.881	0.03214	T	0.211	0.29987	B	0.066	0.27432	B	0.958503	0.07702	U	1.030060	1	0.08975	N	2.035	0.55589	M	1.59	0.28836	T	-1.46	0.35792	N	0.137	0.13484	-0.9743	0.36279	T	0.017	0.06759	T	10	0.004621446	0.00096	T	0.009048	0.23821	T	0.077	0.22490	.	.	0.420199648628	0.41636	0.18951752712542627	0.18869	0.112745788299	0.12728	0.296030640602	0.09812	T	0.009084	0.08297	T	-0.528935	0.00390	T	-0.578106	0.14713	T	0.010993971066092	0.00158	T	0.691931	0.30130	T	0.03761667	0.04856	0.050876006	0.08074	0.03761667	0.04856	0.050876006	0.08074	-0.644	0.00679	T	.	.	0.116	0.23430	B	.	.	2.079500	0.26445	17.12	0.76688960896618308	0.11569	0.55637	0.29914	D	AEFBI	.	.	.	-0.464279178752332	0.23259	1.247724	-0.372429399614593	0.25822	1.42244	0.00891975921500554	0.11764	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.530356	0.10902	0	.	.	5.47	2.34	0.28071	1.288000	0.32901	3.466000	0.38548	0.676000	0.76740	0.834000	0.30193	1.000000	0.68203	0.951000	0.49849	0.0802:0.2089:0.4869:0.224	3.886	0.08604	619	0.66147	.	.	.	.	.	.	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	1111.98	42	chr6	127447487	.	G	A	1111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.170e-01;DP=886;ExcessHet=0.0000;FS=6.241;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-7.230e-01;SOR=0.327	GT:AD:DP:GQ:PL	0/1:58,46:104:99:1126,0,1608	20	0	1	0
chr6	130104448	130104448	G	C	exonic	L3MBTL3	.	nonsynonymous SNV	L3MBTL3:NM_001007102:exon18:c.G1684C:p.E562Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.02	B	0.06	B	0.000	D	0.998	D	1.875	L	0.98	T	-1.092	T	0.075	T	0.396	3.444	17.66	6.02	2.865	7.139	17.457	0.095	0.00531181244567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.062e-07	6.841e-07	0	1.422e-06	1.323e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.323e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.09	0.40747	T	0.02	0.18235	B	0.06	0.26717	B	0.000003	0.62929	D	0.137170	0.99834	0.44796	D	1.64	0.41913	L	0.98	0.42122	T	-1.89	0.44094	N	0.294	0.36359	-1.0919	0.05223	T	0.075	0.30335	T	10	0.20402479	0.36578	T	0.005312	0.13587	T	0.095	0.27398	0.257	0.19845	0.510253608637	0.50666	0.4699442077555547	0.46913	0.352886121984	0.37108	0.526090800762	0.42484	T	0.254013	0.62461	T	-0.0703811	0.41265	T	-0.338874	0.40472	T	0.832054674625397	0.48691	D	0.858914	0.58094	D	0.18114188	0.39270	0.16718087	0.38582	0.18114188	0.39270	0.16718087	0.38582	-8.8	0.66400	D	.	.	0.310	0.53785	B	.;.;.;.;.;.	.;.;.;.;.;.	4.240062	0.64281	24.7	0.9975224330175031	0.84382	0.97578	0.75670	D	AEFBI	0.680794	0.64436	D	0.211503112975648	0.51757	3.354421	0.401366704915121	0.61648	4.368111	0.991459403478708	0.32494	0.732398	0.92422	0	0.633656	0.55848	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	6.391000	0.73140	11.771000	0.95863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.457	0.87504	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	444.98	34	chr6	130104448	.	G	C	444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.248;DP=811;ExcessHet=0.0000;FS=1.062;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.67;ReadPosRankSum=-6.470e-01;SOR=0.864	GT:AD:DP:GQ:PL	0/1:37,21:58:99:459,0,895	20	0	1	0
chr6	138902527	138902527	G	A	exonic	ECT2L	.	nonsynonymous SNV	ECT2L:NM_001195037:exon21:c.G2615A:p.G872D	.	.	.	.	.	.	.	.	.	.	.	137743	not_specified	MedGen:CN169374	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.06	T	0.36	B	0.181	B	0.056	U	0.886	N	1.95	M	-1.08	T	-0.756	T	0.227	T	0.391	3.205	16.73	3.97	1.486	2.502	8.665	0.429	0.0494243736423	8.5e-05	0.000399361	0.0002	0	0	0	0	5.999e-05	0	0.0010	0.0001423	22	154602	rs374898524	7.802e-05	7.798e-05	4.086e-05	0.0001	0.0008	6.602e-05	6.145e-05	0.0006	0.0006	0	0	0	0	0	0	3.598e-05	0.0001	0.0008	3.286e-05	3.281e-05	1.286e-05	5.377e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.019	0.50132	D	0.021	0.58089	D	0.246	0.31102	B	0.088	0.29688	B	0.055815	0.22612	U	0.151356	0.886201	0.35853	D	2.735	0.79925	M	-1.08	0.77078	T	-2.22	0.49846	N	0.256	0.29313	-0.7561	0.57615	T	0.227	0.59183	T	10	0.031805366	0.01320	T	0.049424	0.63806	D	0.429	0.73590	.	.	0.494974121195	0.49132	0.7260063479511304	0.72544	0.5077257055	0.48953	0.531446397305	0.43238	T	0.006867	0.06296	T	-0.255702	0.13407	T	-0.199267	0.54716	T	0.140178270412515	0.16291	T	0.759024	0.38317	T	0.14111915	0.32531	0.22907582	0.47968	0.14111915	0.32531	0.22907582	0.47967	-12.193	0.85778	D	.	.	0.377	0.61224	A	.;.;.	.;.;.	4.197509	0.63317	24.6	0.99713010266898583	0.81493	0.82876	0.42046	D	AEFBI	0.376285	0.46049	N	0.0909327191421509	0.46040	2.850676	0.19228865124707	0.49422	3.145706	0.00807116817054869	0.11605	0.475973	0.10046	0	0.601575	0.49859	0	0.572659	0.19721	0	0.714379	0.83352	0	.	.	5.85	3.97	0.45241	2.555000	0.45515	5.647000	0.49169	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0815:0.1527:0.7658:0.0	8.665	0.33276	918	0.19598	.;.;.	.	.	.	.	.	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	1273.98	33	chr6	138902527	.	G	A	1273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.807;DP=825;ExcessHet=0.0000;FS=2.228;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=1.22;SOR=0.946	GT:AD:DP:GQ:PL	0/1:78,56:134:99:1288,0,1911	20	0	1	0
chr6	139242885	139242885	C	T	exonic	TXLNB	.	nonsynonymous SNV	TXLNB:NM_153235:exon10:c.G1696A:p.E566K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	0.001	N	1.000	N	-0.145	N	2.55	T	-0.988	T	0.004	T	0.092	-0.642	1.168	-10.1	-4.286	-4.277	13.771	0.022	0.00228849346955	.	.	0.0002	0	0	0	0	0	0.0011	0.0013	0.0001423	22	154602	rs756091357	7.456e-05	7.456e-05	5.581e-05	9.351e-05	0.0010	6.315e-05	5.873e-05	0.0008	0.0008	0	2.236e-05	0	0	0	0	1.259e-05	0.0001	0.0010	1.97e-05	1.969e-05	2.57e-05	1.344e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.011e-05	0	0	0	0	0	0	0	0	0	0.0006	0.811	0.03028	T	0.894	0.03099	T	0.001	0.07471	B	0.001	0.04355	B	0.001142	0.00745	N	2.983420	1	0.08975	N	0.375	0.12094	N	2.55	0.13795	T	-0.17	0.09627	N	0.052	0.02366	-0.9877	0.33175	T	0.004	0.01470	T	9	0.011493444	0.00251	T	0.002288	0.04397	T	0.022	0.04323	0.114	0.02306	0.0401082797425	0.02173	0.11326702011036492	0.11254	0.085014186535	0.09608	0.256264418364	0.04456	T	0.00255	0.01944	T	-0.700617	0.00036	T	-0.829605	0.01269	T	0.0124294603457358	0.00204	T	0.506149	0.16021	T	0.03125671	0.02934	0.04559967	0.06172	0.03125671	0.02933	0.04559967	0.06172	-4.626	0.32497	T	.	.	0.058	0.00705	B	.	.	-1.098411	0.00642	0.017	0.60821141630738873	0.06556	0.01647	0.05293	N	AEFBI	0.147321	0.27097	N	-2.05756622010562	0.00159	0.006787841	-2.17238935569259	0.00129	0.005672429	0.999998304911648	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573078	0.19857	0	0.586402	0.36253	0	.	.	5.07	-10.1	0.00330	-2.246000	0.01273	-1.709000	0.04872	-1.073000	0.01588	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.1138:0.5861:0.3001	13.771	0.62513	531	0.73574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1507.98	36	chr6	139242885	.	C	T	1507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=954;ExcessHet=0.0000;FS=5.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.94;ReadPosRankSum=-2.320e-01;SOR=1.387	GT:AD:DP:GQ:PL	0/1:38,51:89:99:1522,0,963	20	0	1	0
chr6	146549672	146549672	G	C	exonic	RAB32	.	nonsynonymous SNV	RAB32:NM_006834:exon2:c.G459C:p.Q153H,	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.008	B	0.000	D	0.933	D	0	N	-1.03	T	-1.058	T	0.092	T	0.183	1.020	9.168	-0.084	0.044	0.068	5.059	0.160	0.0203214982612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.25457	T	0.163	0.31125	T	0.0	0.02946	B	0.008	0.13708	B	0.000037	0.55875	D	0.162107	0.932997	0.37040	D	0.55	0.14455	N	-1.03	0.76430	T	-0.61	0.18042	N	0.299	0.33796	-1.0585	0.12134	T	0.092	0.35038	T	10	0.15090984	0.28534	T	0.020321	0.42890	T	0.160	0.41473	0.565	0.68633	0.659925967884	0.65708	0.4625580721080559	0.46173	0.108456008198	0.12232	0.302462339401	0.10769	T	0.25029	0.62037	T	-0.118779	0.33322	T	-0.408394	0.32410	T	0.0654319301247597	0.07995	T	0.549745	0.18930	T	0.09009909	0.21072	0.053479288	0.09014	0.09009909	0.21072	0.053479288	0.09014	-4.725	0.33705	T	.	.	0.122	0.25462	B	.	.	0.972746	0.13500	10.02	0.94400853667526941	0.24790	0.65441	0.32738	D	AEFBCI	0.347447	0.44191	N	-0.905181257101594	0.10719	0.5136542	-0.812582837565267	0.14192	0.7402181	0.999580915613626	0.40607	0.706548	0.73137	0	0.627178	0.54094	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.7	-0.0844	0.13025	0.006000	0.13051	-1.336000	0.05684	-0.185000	0.09859	0.839000	0.30269	0.000000	0.08366	0.958000	0.51230	0.2577:0.0:0.4047:0.3376	5.059	0.13885	507	0.75469	Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1742.98	35	chr6	146549672	.	G	C	1742.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=841;ExcessHet=0.0000;FS=3.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-4.860e-01;SOR=0.988	GT:AD:DP:GQ:PL	0/1:80,66:146:99:1757,0,2028	20	0	1	0
chr6	146700999	146700999	G	A	exonic	ADGB	.	nonsynonymous SNV	ADGB:NM_024694:exon13:c.G1636A:p.V546I,	.	.	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.014	B	0.001	B	0.901	N	1.000	N	-1.1	N	1.61	T	-0.917	T	0.007	T	0.037	-1.143	0.107	-2.48	-0.517	-0.718	12.799	0.019	0.00667353441132	.	0.000399361	0.0008	0	0	0.0081	0.0024	0.0003	0	0.0006	0.0001229	19	154602	rs182423390	0.0005	0.0005	0.0005	0.0006	0.0124	0.0005	0.0005	0.0115	0.0111	9.508e-05	0.0003	0.0007	0.0124	0.0004	0.0004	0.0002	0.0005	0.0003	0.0005	0.0005	0.0004	0.0006	0.0087	0.0004	0.0004	0.0067	0.0060	9.63e-05	0	0.0002	0.0006	0.0087	0.0004	0	0.0002	0	0.0008	1.0	0.00964	T	0.934	0.02742	T	0.014	0.16867	B	0.001	0.04355	B	0.901098	0.08619	N	0.955253	1	0.08975	N	-0.345	0.03330	N	1.61	0.28391	T	0.31	0.04022	N	0.034	0.00942	-0.9166	0.46011	T	0.007	0.02439	T	10	0.0051766634	0.00112	T	0.006674	0.17614	T	0.019	0.03383	.	.	0.0138822411134	0.00435	0.06679601707531156	0.06617	.	.	0.285528928041	0.08275	T	9.84E-4	0.00525	T	-0.76335	0.00014	T	-0.865411	0.00787	T	0.0099151350383154	0.00132	T	0.609039	0.23055	T	0.021540472	0.00762	0.027550284	0.00917	0.021540472	0.00761	0.027550284	0.00916	-3.461	0.15890	T	.	.	0.069	0.02960	B	.	.	-0.000083	0.04280	1.071	0.167654289974114	0.00462	0.01761	0.05536	N	AEFI	0.043460	0.06872	N	-1.64487385467782	0.01057	0.0458564	-1.61854435101449	0.01546	0.07007086	3.20036118336587E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.21	-2.48	0.06052	-0.695000	0.05211	-6.206000	0.01465	-0.241000	0.07509	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.0:0.5211:0.3953:0.0836	12.799	0.56956	741	0.52966	Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	754.98	33	chr6	146700999	.	G	A	754.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.980e-01;DP=792;ExcessHet=0.0000;FS=3.915;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.95;ReadPosRankSum=0.00;SOR=0.791	GT:AD:DP:GQ:PL	0/1:57,38:95:99:769,0,1391	20	0	1	0
chr6	158725512	158725512	G	A	exonic	SYTL3	.	nonsynonymous SNV	SYTL3:NM_001318745:exon8:c.G112A:p.A38T	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.009	B	0.004	B	0.194	N	0.999	N	-0.11	N	2.21	T	-1.008	T	0.006	T	0.048	1.196	9.858	-5.72	-1.369	-1.156	7.948	0.012	0.00298635262283	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs750019874	9.577e-06	9.577e-06	5.445e-06	1.375e-05	0.0002	5.56e-06	4.35e-06	8.887e-05	7.055e-05	0	0	0	0	0	0	8.993e-07	0	0.0002	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.747	0.05184	T	0.001	0.15093	B	0.001	0.10090	B	0.194266	0.03272	N	1.561630	1	0.21650	N	-0.245	0.03879	N	2.2	0.18570	T	-0.12	0.08809	N	0.066	0.03841	-1.0079	0.27572	T	0.006	0.02093	T	10	0.015941828	0.00335	T	0.002986	0.06369	T	0.012	0.01476	0.201	0.11522	0.0611884634855	0.05136	0.17441694059778903	0.17360	0.0169914472874	0.01642	0.232786029577	0.02181	T	0.004091	0.03502	T	-0.548415	0.00298	T	-0.822883	0.01395	T	0.018556058620157	0.00570	T	0.69713	0.30670	T	0.021507695	0.00757	0.04442486	0.05753	0.021507695	0.00757	0.04442486	0.05753	-4.155	0.33173	T	.	.	0.063	0.01408	B	.;.;.;.	.;.;.;.	-1.040523	0.00715	0.021	0.78976651193765823	0.12535	0.00877	0.03467	N	AEFDBI	0.028114	0.02418	N	-1.36855668143443	0.02937	0.13046	-1.37725390471095	0.03496	0.1631791	0.99288302115318	0.33004	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.42	-5.72	0.02211	-1.393000	0.02627	-1.284000	0.05818	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.245000	0.23132	0.6552:0.0:0.2144:0.1304	7.948	0.29157	762	0.50290	.;.;.;.	.	.	.	.	.	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	1354.98	91	chr6	158725512	.	G	A	1354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.430e-01;DP=909;ExcessHet=0.0000;FS=1.503;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=-6.060e-01;SOR=0.892	GT:AD:DP:GQ:PL	0/1:68,54:122:99:1369,0,1783	20	0	1	0
chr6	159806021	159806021	A	C	exonic	PNLDC1	.	nonsynonymous SNV	PNLDC1:NM_001271862:exon7:c.A500C:p.E167A	.	.	432	1058	29	3	0	35	0.0162715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.328	B	0.183	B	0.052	N	1.000	N	1.545	L	.	.	-1.051	T	0.043	T	0.264	1.472	10.87	3.4	0.546	2.816	9.562	0.038	.	0.0050	0.00519169	0.0064	0.0012	0.0046	0	0.0054	0.0055	0.0110	0.0179	0.0061254	947	154602	rs146392472	0.0061	0.0061	0.0057	0.0065	0.0181	0.0060	0.0059	0.0173	0.0170	0.0009	0.0042	0.0051	2.519e-05	0.0054	0.0166	0.0056	0.0064	0.0181	0.0045	0.0045	0.0043	0.0047	0.0174	0.0043	0.0041	0.0144	0.0133	0.0011	0	0.0044	0.0037	0.0004	0.0029	0.0034	0.0063	0.0071	0.0174	0.025	0.47320	D	0.016	0.61642	D	0.243	0.33195	B	0.183	0.35961	B	0.052386	0.22898	N	0.442842	0.999982	0.18198	N	2.595	0.75868	M	.	.	.	-2.22	0.49846	N	0.416	0.49146	-1.0514	0.14009	T	0.043	0.18410	T	9	0.007142067	0.00162	T	.	.	.	0.038	0.09825	.	.	0.276482976112	0.27267	0.4509988585740375	0.45017	0.36332536221	0.37963	0.265277177095	0.05535	T	0.208192	0.56805	T	-0.412569	0.01912	T	-0.351778	0.39000	T	0.0187307143406989	0.00586	T	0.854015	0.53996	D	0.14637151	0.33511	0.14839086	0.35078	0.14637151	0.33511	0.14839086	0.35077	-6.699	0.51803	T	.	.	0.133	0.28778	B	.;.	.;.	2.142681	0.27288	17.41	0.98660465239849338	0.44317	0.81536	0.40920	D	AEFDBHCI	0.166051	0.29260	N	-0.339153688440127	0.27672	1.52017	-0.299622933287084	0.28111	1.564821	0.999996483160134	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	5.76	3.4	0.38031	2.895000	0.48347	7.857000	0.71250	0.751000	0.87719	0.934000	0.32416	1.000000	0.68203	0.380000	0.26335	0.8948:0.0:0.1052:0.0	9.562	0.38538	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1716.98	36	chr6	159806021	.	A	C	1716.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.384;DP=946;ExcessHet=0.0000;FS=0.575;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=1.60;SOR=0.613	GT:AD:DP:GQ:PL	0/1:99,70:169:99:1731,0,2717	20	0	1	0
chr6	160122048	160122048	G	A	exonic	SLC22A1	.	nonsynonymous SNV	SLC22A1:NM_003057:exon1:c.G113A:p.G38D	.	.	406	1085	27	4	0	35	0.015873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.545	H	-0.69	T	0.567	D	0.679	D	0.985	4.373	23.1	5.5	2.579	9.105	19.396	0.892	.	0.0015	0.00299521	0.0035	0.0005	0.0036	0	0	0.0051	0.0044	0.0019	0.0033376	516	154602	rs35888596	0.0027	0.0027	0.0025	0.0028	0.0449	0.0026	0.0026	0.0404	0.0387	0.0013	0.0043	0.0349	2.519e-05	5.645e-05	0.0449	0.0018	0.0058	0.0022	0.0028	0.0028	0.0029	0.0027	0.0051	0.0026	0.0025	0.0042	0.0039	0.0006	0.0011	0.0051	0.0375	0.0002	0	0.0646	0.0022	0.0090	0.0014	0.001	0.78490	D	0.004	0.74150	D	0.999	0.90584	D	0.98	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.595	0.93690	H	-0.69	0.74477	T	-5.81	0.89796	D	0.961	0.97426	0.567	0.91463	D	0.679	0.88881	D	10	0.014657378	0.00308	T	.	.	.	0.892	0.96910	.	.	0.795648209137	0.79374	0.8796919050526835	0.87937	0.688094427306	0.60415	0.666530907154	0.62343	T	0.439231	0.78459	T	0.0811231	0.62173	D	0.342913	0.90036	D	0.0767291887891701	0.09564	T	0.849815	0.53298	T	0.88076633	0.89730	0.90945464	0.95650	0.88076633	0.89731	0.90945464	0.95650	-8.143	0.63725	D	.	.	0.828	0.81301	P	.;.;.;.	.;.;.;.	3.791481	0.54572	23.5	0.99864207348351708	0.94276	0.98984	0.89542	D	AEFDBI	0.960016	0.98063	D	0.972892910519621	0.94849	13.09174	0.888011549237918	0.95029	13.248	0.999999999882552	0.74766	0.554377	0.28877	0	0.550933	0.16991	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.5	5.5	0.81386	9.228000	0.94403	9.547000	0.80972	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.670000	0.33251	0.0:0.0:1.0:0.0	19.396	0.94596	564	0.70960	.;.;.;.	.	.	.	.	.	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	1547.98	34	chr6	160122048	.	G	A	1547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=826;ExcessHet=0.0000;FS=3.270;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=-2.180e-01;SOR=0.440	GT:AD:DP:GQ:PL	0/1:66,58:124:99:1562,0,1608	20	0	1	0
chr6	161049189	161049189	G	A	exonic	MAP3K4	.	nonsynonymous SNV	MAP3K4:NM_001301072:exon3:c.G917A:p.G306E	.	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.847	P	0.518	P	0.001	N	0.927	D	1.845	L	1.49	T	-1.108	T	0.059	T	0.593	2.635	14.77	5.1	1.543	2.810	15.221	0.108	0.00650344308442	0.0004	.	0.0004	0	0.0003	0	0	0.0007	0.0011	0	0.0003622	56	154602	rs142968561	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0001	5.975e-05	0.0001	0.0064	0	1.872e-05	0.0007	9.713e-05	0.0008	0	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	9.047e-05	7.012e-05	4.83e-05	0	6.55e-05	0.0081	0	0	0	0.0002	0.0010	0	0.114	0.28646	T	0.018	0.76473	D	0.814	0.46818	P	0.518	0.48133	P	0.001038	0.40562	N	0.212895	0.927119	0.36855	D	1.575	0.39704	L	1.49	0.31470	T	-1.5	0.36586	N	0.224	0.25130	-1.1079	0.03256	T	0.059	0.24871	T	10	0.008900374	0.00202	T	0.006503	0.17129	T	0.108	0.30607	.	.	0.359705090764	0.35578	0.4860995178127367	0.48529	0.387767246045	0.40052	0.572111129761	0.48977	T	0.076928	0.35535	T	-0.28249	0.10405	T	-0.348719	0.39351	T	0.0473520444983293	0.05028	T	0.833717	0.50261	T	0.11836501	0.27888	0.16227445	0.37703	0.11836501	0.27888	0.16227445	0.37702	-3.077	0.11068	T	.	.	0.141	0.38227	B	.;.;.;.	.;.;.;.	2.646694	0.34451	19.63	0.99334694481154717	0.59934	0.86671	0.46001	D	AEFBCI	0.266274	0.38322	N	0.306840207184875	0.56498	3.81469	0.353751700193776	0.58733	4.045768	0.999999958903758	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.96	5.1	0.68917	2.891000	0.48316	7.484000	0.59291	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0671:0.0:0.9329:0.0	15.221	0.73001	900	0.24599	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1718.98	40	chr6	161049189	.	G	A	1718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.94;DP=950;ExcessHet=0.0000;FS=1.403;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=0.708;SOR=0.558	GT:AD:DP:GQ:PL	0/1:67,60:127:99:1733,0,1903	20	0	1	0
chr6	163314913	163314913	C	T	exonic	PACRG	.	nonsynonymous SNV	PACRG:NM_001080379:exon5:c.C700T:p.R234C	.	.	422	1084	15	1	0	17	0.00778032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.434	B	0.133	B	0.000	D	1.000	D	2.475	M	0.78	T	-0.918	T	0.115	T	0.68	2.870	15.56	5.87	2.941	4.001	15.652	0.180	0.0231140770078	0.0043	0.000998403	0.0031	0.0010	0.0016	0.0018	0	0.0046	0.0033	0.0010	0.0031112	481	154602	rs34421506	0.0047	0.0047	0.0048	0.0046	0.0056	0.0046	0.0046	0.0054	0.0054	0.0010	0.0018	0.0049	0.0008	0.0005	0.0038	0.0056	0.0054	0.0011	0.0036	0.0036	0.0039	0.0033	0.0056	0.0033	0.0032	0.0051	0.0049	0.0019	0	0.0027	0.0052	0.0027	0.0004	0	0.0056	0.0047	0.0006	0.045	0.40832	D	0.125	0.38016	T	0.434	0.35666	B	0.133	0.33073	B	0.000052	0.53742	D	0.166056	1	0.81001	D	1.975	0.53506	M	0.78	0.49358	T	-4.32	0.77470	D	0.434	0.51315	-0.9183	0.45783	T	0.115	0.40695	T	10	0.013283074	0.00282	T	0.023114	0.46062	T	0.180	0.45073	.	.	0.795857371954	0.79396	0.647155621750776	0.64650	1.04843531002	0.76047	0.539970397949	0.44441	T	0.552137	0.84854	D	-0.281695	0.10489	T	-0.176459	0.56850	T	0.043927942551085	0.04408	T	0.971203	0.89615	D	0.2774013	0.50798	0.165402	0.38266	0.2774013	0.50798	0.165402	0.38265	-7.206	0.68376	T	0.4786434733815023	0.55772	0.195	0.41557	B	.;.;.;.	.;.;.;.	4.257832	0.64686	24.7	0.99588917464585447	0.73454	0.92694	0.56318	D	AEFDBI	0.653127	0.62627	D	0.342748412360156	0.58357	4.007499	0.462958026994666	0.65555	4.838387	0.999999991226953	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.87	5.87	0.94266	4.047000	0.57095	4.771000	0.44774	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.9328:0.0:0.0672	15.652	0.76863	968	0.07033	.;.;.;.	.	.	.	.	.	Uncertain significance	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	3898.98	35	chr6	163314913	.	C	T	3898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.440e-01;DP=1036;ExcessHet=0.0000;FS=2.331;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=-3.490e-01;SOR=0.841	GT:AD:DP:GQ:PL	0/1:182,159:341:99:3913,0,4537	20	0	1	0
chr6	167341660	167341660	T	C	exonic	TTLL2	.	nonsynonymous SNV	TTLL2:NM_031949:exon3:c.T1760C:p.M587T,	.	.	436	1072	11	3	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.001	B	0.001	B	0.236	N	1.000	N	0.255	N	4.43	T	-0.955	T	0.001	T	0.082	-0.250	2.795	-4.57	-0.810	-0.062	6.017	0.016	0.000771545557268	0.0024	0.00119808	0.0035	0.0004	0.0036	0	0.0009	0.0052	0.0059	0.0008	0.0032341	500	154602	rs149701744	0.0035	0.0035	0.0035	0.0035	0.0128	0.0034	0.0034	0.0104	0.0095	0.0009	0.0039	0.0251	2.521e-05	0.0015	0.0128	0.0034	0.0052	0.0006	0.0029	0.0029	0.0031	0.0027	0.0050	0.0027	0.0026	0.0041	0.0038	0.0006	0	0.0050	0.0242	0.0002	0.0014	0.0102	0.0033	0.0071	0.0002	0.369	0.11586	T	0.677	0.06166	T	0.001	0.07471	B	0.001	0.04355	B	0.236204	0.15812	N	0.579039	1	0.08975	N	0.55	0.14455	N	4.43	0.02158	T	-0.65	0.18877	N	0.105	0.08925	-0.9545	0.40185	T	0.001	0.00348	T	10	0.0036715567	0.00067	T	7.72E-4	0.00568	T	0.016	0.02506	.	.	0.0138822411134	0.00435	0.4669118121956997	0.46610	0.139089578286	0.15683	0.391457080841	0.23875	T	8.79E-4	0.00441	T	-0.703697	0.00035	T	-0.784744	0.02313	T	0.0019566949524561	0.00020	T	0.346065	0.07604	T	0.042237915	0.06368	0.065870985	0.13414	0.042237915	0.06367	0.065870985	0.13413	-2.772	0.07928	T	.	.	0.156	0.34602	B	.;.	.;.	-0.832833	0.01044	0.044	0.24974204020104318	0.01130	0.01242	0.04380	N	AEFDBCI	0.055174	0.10095	N	-1.3886761404315	0.02743	0.1215813	-1.45121540507894	0.02759	0.1274935	0.999963506485023	0.48965	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.04	-4.57	0.03178	-0.087000	0.11181	-7.104000	0.01230	0.519000	0.23678	0.000000	0.06391	0.000000	0.08366	0.211000	0.22211	0.1237:0.3907:0.0:0.4856	6.017	0.18834	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	661.98	39	chr6	167341660	.	T	C	661.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.560e-01;DP=733;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.39;ReadPosRankSum=-1.440e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/1:20,26:46:99:676,0,531	20	0	1	0
chr6	170561959	170561961	CAG	-	exonic	TBP	.	nonframeshift deletion	TBP:NM_001172085:exon2:c.163_165del:p.Q75del	Spinocerebellar ataxia 17, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	590775	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	9.758e-05	0.0002	0	0.0004	0	0.0002	3.84e-05	1	26028	rs758734033	0.0057	0.0067	0.0062	0.0053	0.0068	0.0056	0.0056	0.0066	0.0066	0.0031	0.0033	0.0037	0.0019	0.0013	0.0032	0.0068	0.0052	0.0017	0.0040	0.0047	0.0041	0.0040	0.0051	0.0038	0.0037	0.0047	0.0045	0.0039	0	0.0029	0.0056	0.0026	0.0005	0.0037	0.0051	0.0040	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2984.38	127	chr6	170561958	.	ACAG	A,ACAGCAG,GCAG	2984.38	.	AC=1,1,1;AF=0.024,0.024,0.024;AN=42;BaseQRankSum=1.95;DP=3232;ExcessHet=0.3300;FS=4.506;InbreedingCoeff=-0.0769;MLEAC=1,1,1;MLEAF=0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=9.10;ReadPosRankSum=2.46;SOR=0.951	GT:AD:DP:GQ:PL	0/2:51,0,53,0:104:99:1549,2069,7525,0,2011,1601,2028,5841,2014,5497	18	0	1	0
chr6	170561961	170561961	-	CAG	exonic	TBP	.	nonframeshift insertion	TBP:NM_001172085:exon2:c.165_166insCAG:p.Q75_A76insQ	Spinocerebellar ataxia 17, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2984.38	127	chr6	170561958	.	ACAG	A,ACAGCAG,GCAG	2984.38	.	AC=1,1,1;AF=0.024,0.024,0.024;AN=42;BaseQRankSum=1.95;DP=3232;ExcessHet=0.3300;FS=4.506;InbreedingCoeff=-0.0769;MLEAC=1,1,1;MLEAF=0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=9.10;ReadPosRankSum=2.46;SOR=0.951	GT:AD:DP:GQ:PL	0/2:51,0,53,0:104:99:1549,2069,7525,0,2011,1601,2028,5841,2014,5497	18	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|1:28,10:38:7:0|1:290724_A_G:7,0,672:290724	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|1:17,17:34:99:0|1:290724_A_G:235,0,143:290724	5	0	14	2
chr7	1440649	1440649	C	T	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon8:c.G1747A:p.G583R,	.	.	416	992	110	4	0	118	0.056137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.999	D	0.861	P	0.785	N	1.000	N	1.04	L	2.4	T	-0.868	T	0.228	T	0.362	0.720	7.833	2.22	0.298	0.162	4.792	0.085	.	0.0058	0.00958466	0.0111	0.0014	0.0042	0.0002	0.0012	0.0092	0.0235	0.0387	0.0103815	1605	154602	rs118132501	0.0097	0.0097	0.0085	0.0108	0.0387	0.0095	0.0095	0.0376	0.0372	0.0019	0.0045	0.0214	5.038e-05	0.0018	0.0317	0.0081	0.0106	0.0387	0.0069	0.0070	0.0062	0.0077	0.0391	0.0066	0.0065	0.0345	0.0327	0.0011	0.0647	0.0083	0.0231	0	0.0016	0.0034	0.0077	0.0085	0.0391	0.01	0.56456	D	0.289	0.21078	T	0.998	0.73220	D	0.629	0.51727	P	0.785298	0.09439	N	0.854456	1	0.08975	N	0.55	0.14455	N	-0.5	0.70480	T	-2.9	0.60827	D	0.274	0.31027	-0.8680	0.50679	T	0.228	0.59372	T	10	0.003394574	0.00059	T	.	.	.	0.085	0.24743	0.254	0.19378	.	.	0.17260096805414704	0.17180	0.0127105137452	0.01221	0.354136884212	0.18529	T	0.005327	0.04780	T	-0.389267	0.02720	T	-0.304068	0.44293	T	0.0421110538412396	0.04076	T	0.717028	0.32946	T	0.07449362	0.16722	0.08943037	0.20911	0.07449362	0.16722	0.08943037	0.20911	-4.714	0.33573	T	.	.	0.185	0.40048	B	.	.	1.897278	0.24095	16.27	0.71380055128778219	0.09609	0.04398	0.09982	N	AEFGBI	0.094525	0.19111	N	-0.45859534911735	0.23449	1.259348	-0.634506495118654	0.18609	0.9948502	0.314020614395515	0.19317	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.08	2.22	0.27116	0.800000	0.26703	1.295000	0.25437	0.597000	0.34315	0.000000	0.06391	0.007000	0.19602	0.040000	0.14268	0.0:0.6189:0.1779:0.2032	4.792	0.12621	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1954.68	34	chr7	1440649	.	C	T	1954.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.161;DP=865;ExcessHet=0.3300;FS=2.385;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=9.44;ReadPosRankSum=-9.000e-02;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,28:72:99:1|0:1440644_C_T:586,0,1729:1440644	18	0	3	0
chr7	5313028	5313028	-	GAGGAT	exonic	TNRC18	.	nonframeshift insertion	TNRC18:NM_001080495:exon27:c.7862_7863insATCCTC:p.S2671_T2672insSS,	.	.	447	380	383	306	6	1001	0.566952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0170	0.0195	0.0098	0.0052	0	0.0151	0.0270	0.0187	0.0104591	1617	154602	rs768319122	0.0012	0.0023	0.0011	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0001	0.0008	4.831e-05	0	0.0001	0	0.0013	0.0010	0.0020	0.0010	0.0029	0.0012	0.0008	0.0017	0.0009	0.0008	0.0014	0.0013	0.0004	0	0.0007	0	0.0004	0	0	0.0017	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	16164.21	33	chr7	5313028	.	G	T,GGAGGAT	16164.21	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-6.260e-01;DP=860;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=27,1;MLEAF=0.643,0.024;MQ=59.83;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.311;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,46,0:49:99:.:.:1380,127,0,1386,137,1395	0	6	14	0
chr7	5313187	5313187	A	0	exonic	TNRC18	.	.	.	.	.	336	1098	17	2	69	90	0.00947226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	896.95	40	chr7	5313187	.	A	G,*	896.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=0.388;DP=931;ExcessHet=0.6776;FS=0.604;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=59.20;MQRankSum=-5.399e+00;QD=3.14;ReadPosRankSum=2.54;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,10,0:72:99:0|1:5313187_A_G:233,0,2546,420,2576,2996:5313187	17	0	3	0
chr7	5313195	5313195	C	T	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon27:c.G7696A:p.G2566S,	.	.	338	1102	6	0	76	82	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	0.970	N	-1.04	N	3.61	T	-0.972	T	0.021	T	0.281	-2.230	0.005	-1.05	-0.388	0.181	7.080	0.019	0.566132589096	.	.	0.0003	0	0	0	0	0	0	0.0007	.	.	.	rs1219465497	4.69e-05	0.0001	4.547e-05	4.837e-05	0.0004	3.77e-05	3.435e-05	0.0003	0.0003	3.174e-05	0	0	0.0002	0	0.0002	2.049e-05	3.475e-05	0.0004	2.64e-05	9.222e-05	2.578e-05	2.705e-05	0.0002	8.17e-06	5.16e-06	.	.	0	0	6.578e-05	0	0.0002	0	0	1.477e-05	0	0.0002	1.0	0.00964	T	0.725	0.05256	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.805	0.01590	N	3.61	0.04446	T	0.32	0.03955	N	0.08	0.09490	-0.9716	0.36862	T	0.021	0.08732	T	9	0.037908286	0.02174	T	0.566133	0.96059	D	0.019	0.03383	0.341	0.33302	0.043077524339	0.03247	0.08017200187297086	0.07952	0.532972911341	0.50740	0.694028973579	0.66284	T	0.003271	0.02677	T	-0.305229	0.08175	T	-0.676217	0.07216	T	0.00504245816284424	0.00054	T	0.40486	0.10377	T	0.0329393	0.03415	0.060975783	0.11699	0.0329393	0.03415	0.060975783	0.11699	0.738	0.00169	T	.	.	0.049	0.00120	B	.;.	.;.	-0.749459	0.01211	0.060	0.69442881910546073	0.08974	0.01164	0.04193	N	AEFDGBHCI	0.027282	0.02201	N	-1.27617096913996	0.03964	0.178059	-1.33243786506907	0.04017	0.1886088	0.00213243111244773	0.09181	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	4.38	-1.05	0.09523	-0.047000	0.11917	-0.402000	0.09404	-0.317000	0.05909	0.000000	0.06391	0.000000	0.08366	0.164000	0.20782	0.0:0.4146:0.1264:0.459	7.080	0.24402	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	219.24	40	chr7	5313195	.	C	T,*	219.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.807;DP=935;ExcessHet=0.6776;FS=0.598;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.04;MQRankSum=-4.350e+00;QD=0.75;ReadPosRankSum=3.05;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,10,0:72:99:0|1:5313187_A_G:233,0,2566,420,2596,3016:5313187	17	0	1	0
chr7	5313195	5313195	C	0	exonic	TNRC18	.	.	.	.	.	338	1102	6	0	76	82	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	219.24	40	chr7	5313195	.	C	T,*	219.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.807;DP=935;ExcessHet=0.6776;FS=0.598;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.04;MQRankSum=-4.350e+00;QD=0.75;ReadPosRankSum=3.05;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,10,0:72:99:0|1:5313187_A_G:233,0,2566,420,2596,3016:5313187	17	0	1	0
chr7	5313196	5313196	A	0	exonic	TNRC18	.	.	.	.	.	342	1098	6	0	76	82	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	219.24	40	chr7	5313196	.	A	G,*	219.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=1.86;DP=935;ExcessHet=0.6776;FS=0.598;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.04;MQRankSum=-4.350e+00;QD=0.75;ReadPosRankSum=3.12;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,10,0:72:99:0|1:5313187_A_G:233,0,2569,420,2599,3019:5313187	17	0	1	0
chr7	5313199	5313199	A	0	exonic	TNRC18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	926.95	40	chr7	5313199	.	A	G,*	926.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=0.392;DP=926;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=59.13;MQRankSum=-5.182e+00;QD=3.30;ReadPosRankSum=2.96;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,10,0:71:99:0|1:5313187_A_G:236,0,2527,420,2557,2977:5313187	17	0	3	0
chr7	6410009	6410009	T	C	exonic	DAGLB	.	nonsynonymous SNV	DAGLB:NM_001142936:exon13:c.A1460G:p.Y487C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.992	D	0.000	D	1.000	D	2.8	M	0.3	T	0.060	D	0.477	T	0.879	5.210	33	5.51	2.095	5.701	15.660	0.621	0.118559856566	7.7e-05	.	2.5e-05	0	0	0	0	4.538e-05	0	0	1.94e-05	3	154602	rs138947170	3.421e-05	3.42e-05	4.493e-05	2.338e-05	3.957e-05	2.632e-05	2.375e-05	2.999e-05	2.671e-05	0	0	0	2.519e-05	0	0	3.957e-05	8.28e-05	0	5.908e-05	5.905e-05	3.854e-05	8.056e-05	0.0002	3.075e-05	2.208e-05	3.762e-05	2.575e-05	4.81e-05	0	0	0	0.0002	0	0	8.819e-05	0	0	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.999601	0.81001	D	2.89	0.83701	M	0.03	0.62183	T	-6.7	0.93764	D	0.927	0.93135	0.060	0.83441	D	0.477	0.79956	T	10	0.7992803	0.79354	D	0.11856	0.79864	D	0.621	0.85301	.	.	0.893838339602	0.89279	0.8386893109478375	0.83828	0.362721336408	0.37921	0.573935985565	0.49234	T	0.641155	0.88998	D	0.229835	0.76706	D	0.200022	0.83129	D	0.944382965564728	0.62050	D	0.864214	0.56114	D	0.6619226	0.76002	0.54229903	0.73546	0.6619226	0.76003	0.54229903	0.73546	-9.545	0.72778	D	.	.	0.288	0.56579	B	.;.;.	.;.;.	4.953905	0.81849	27.6	0.99674928360825166	0.78846	0.93667	0.58849	D	AEFDGBCI	0.678911	0.64312	D	0.643808392405575	0.75968	6.400761	0.543210447452067	0.70928	5.577663	0.999999998822519	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.51	5.51	0.81769	5.730000	0.68193	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	15.660	0.76937	824	0.40336	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2199.98	35	chr7	6410009	.	T	C	2199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.39;DP=961;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.67;ReadPosRankSum=1.58;SOR=0.693	GT:AD:DP:GQ:PL	0/1:58,74:132:99:2214,0,1463	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	1/3:0,13,0,19,0,0,0:34:99:1316,694,633,1275,720,1280,473,0,453,392,1275,720,1280,453,1280,1275,720,1280,453,1280,1280,1275,720,1280,453,1280,1280,1280	1	3	5	0
chr7	20379207	20379207	G	A	exonic	ITGB8	.	nonsynonymous SNV	ITGB8:NM_002214:exon4:c.G545A:p.R182H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.001	B	0.001	B	0.675	N	1.000	N	-0.14	N	-4.53	D	-0.143	T	0.672	D	0.124	1.800	11.98	-11.5	-2.280	-2.624	5.623	0.361	0.117280926661	.	.	6.596e-05	0	8.646e-05	0	0	8.997e-05	0	6.062e-05	5.17e-05	8	154602	rs762991609	4.591e-05	4.583e-05	4.5e-05	4.683e-05	0.0002	3.667e-05	3.353e-05	3.982e-05	3.578e-05	2.996e-05	4.497e-05	0	2.53e-05	0	0.0002	5.042e-05	1.659e-05	5.817e-05	4.605e-05	4.598e-05	9.002e-05	0	8.824e-05	2.111e-05	1.528e-05	3.763e-05	2.576e-05	0	0	6.551e-05	0	0	0	0	8.824e-05	0	0	0.038	0.42783	D	0.12	0.36365	T	0.0	0.02946	B	0.001	0.04355	B	0.674639	0.06056	N	1.145550	0.999988	0.18198	N	-0.83	0.01527	N	-4.53	0.97713	D	-0.35	0.12847	N	0.056	0.02759	-0.1434	0.79081	T	0.672	0.88650	D	10	0.12037033	0.22798	T	0.117281	0.79701	D	0.361	0.68141	0.622	0.75690	0.544391918571	0.54093	0.29458282207220304	0.29371	0.177625717197	0.19989	0.203645586967	0.00570	T	0.443125	0.78703	T	-0.206144	0.19924	T	-0.318553	0.42735	T	0.0395272063390773	0.03604	T	0.240176	0.12306	T	0.06450263	0.13690	0.05925527	0.11090	0.06450263	0.13690	0.05925527	0.11089	-3.684	0.19082	T	.	.	0.057	0.01179	B	.;.	.;.	-1.317661	0.00423	0.008	0.91210298739985229	0.20467	0.01975	0.05977	N	AEFBI	0.080030	0.16174	N	-1.69740760693908	0.00851	0.03681396	-1.74328938382435	0.00959	0.04293368	0.999999077676096	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.82	-11.5	0.00057	-2.518000	0.01029	-1.102000	0.06325	-2.749000	0.00198	0.000000	0.06391	0.000000	0.08366	0.195000	0.21750	0.5632:0.0644:0.1898:0.1826	5.623	0.16744	738	0.53389	.;Integrin beta subunit, VWA domain|Integrin beta subunit, VWA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1429.98	34	chr7	20379207	.	G	A	1429.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.88;DP=864;ExcessHet=0.0000;FS=3.270;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=0.146;SOR=0.990	GT:AD:DP:GQ:PL	0/1:71,56:127:99:1444,0,1637	20	0	1	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	1/1:0,151,0:151:99:.:.:5113,456,0,4879,454,5260	0	18	1	0
chr7	43877409	43877409	C	A	exonic	URGCP	.	nonsynonymous SNV	URGCP:NM_017920:exon5:c.G2027T:p.R676L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.018	B	0.007	B	0.020	N	0.987	N	0.985	L	2.91	T	-1.021	T	0.022	T	0.589	1.527	11.06	4.94	1.472	0.935	8.829	0.141	0.00756999849731	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328166812	6.844e-07	6.84e-07	1.362e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.344	0.12552	T	0.018	0.59732	D	0.018	0.17786	B	0.007	0.12992	B	0.019924	0.27150	N	0.368208	0.99958	0.20930	N	1.56	0.39490	L	2.91	0.10101	T	-0.82	0.22508	N	0.47	0.50958	-1.0211	0.23357	T	0.022	0.09238	T	10	0.3016625	0.47708	T	0.00757	0.20086	T	0.141	0.37795	0.373	0.38503	0.192905019026	0.18896	0.5516371102167222	0.55089	1.57374072509	0.88235	0.531145036221	0.43196	T	0.225432	0.59016	T	-0.151613	0.28060	T	-0.455558	0.27084	T	0.447388380765915	0.30701	T	0.89651	0.63872	D	0.09490706	0.22324	0.05234652	0.08607	0.09490706	0.22324	0.05234652	0.08606	-3.871	0.21869	T	.	.	0.141	0.31023	B	.;.;.;.	.;.;.;.	2.037185	0.25894	16.93	0.99486068736685485	0.67180	0.85132	0.44239	D	AEFGBCIJ	0.168417	0.29517	N	-0.29509975554108	0.29337	1.625985	-0.148183874660617	0.33478	1.915446	0.995652312962109	0.34247	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.82	4.94	0.64645	0.760000	0.26140	0.804000	0.21687	0.599000	0.40250	0.034000	0.20669	0.373000	0.24578	0.425000	0.27339	0.0:0.8317:0.0:0.1683	8.829	0.34235	769	0.49307	.;.;.;.	.	.	.	.	.	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	2711.98	134	chr7	43877409	.	C	A	2711.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e-01;DP=3100;ExcessHet=0.0000;FS=3.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=0.286;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,101:204:99:0|1:43877409_C_A:2726,0,3981:43877409	20	0	1	0
chr7	47303112	47303112	G	A	exonic	TNS3	.	nonsynonymous SNV	TNS3:NM_022748:exon22:c.C3295T:p.P1099S,	.	.	406	1082	32	2	0	36	0.0163636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.995	D	0.000	D	1.000	D	1.1	L	-3.75	D	1.119	D	0.965	D	0.57	5.124	32	5.66	2.662	9.250	17.237	0.603	.	0.0002	0.00559105	0.0041	0.0002	0.0007	0.0002	0	0.0002	0.0034	0.0279	0.0035252	545	154602	rs185351500	0.0018	0.0018	0.0010	0.0026	0.0266	0.0017	0.0017	0.0257	0.0253	8.961e-05	0.0002	0.0003	2.519e-05	0	0.0035	0.0001	0.0019	0.0266	0.0010	0.0010	0.0007	0.0014	0.0236	0.0009	0.0008	0.0201	0.0188	7.211e-05	0.0088	0.0008	0.0003	0	0	0.0034	0.0002	0.0009	0.0236	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000019	0.62929	D	0.067253	0.999957	0.81001	D	3.255	0.89877	M	-3.75	0.99255	D	-6.19	0.90332	D	0.628	0.64223	1.119	0.99903	D	0.965	0.98873	D	10	0.011156976	0.00245	T	.	.	.	0.603	0.84345	.	.	0.855611554885	0.85421	0.5796115620834176	0.57890	.	.	0.673968195915	0.63403	T	0.556353	0.85070	D	-0.0311852	0.47243	T	0.203378	0.83311	D	0.126873841887387	0.15090	T	0.957104	0.83854	D	0.6748754	0.76694	0.68013376	0.81206	0.6748754	0.76695	0.68013376	0.81207	-10.997	0.79642	D	.	.	0.897	0.85441	P	.;.	.;.	4.398984	0.67958	25.2	0.99932033070223714	0.99439	0.96273	0.68337	D	AEFDBCI	0.922080	0.89653	D	0.754246687938273	0.83183	7.950563	0.777913695516357	0.88220	9.500883	0.999999999999638	0.74766	0.626454	0.40138	0	0.588066	0.40923	0	0.80507	0.99327	0	0.655142	0.61905	0	.	.	5.66	5.66	0.87293	9.375000	0.96582	11.521000	0.93046	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.237	0.86886	906	0.23090	.;.	.	.	.	.	.	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	1133.98	34	chr7	47303112	.	G	A	1133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.317;DP=826;ExcessHet=0.0000;FS=2.455;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=0.029;SOR=0.479	GT:AD:DP:GQ:PL	0/1:64,48:112:99:1148,0,1568	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	0/1:79,44,0:123:99:.:.:303,0,1414,521,1532,2053	0	0	17	1
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.086	B	0.052	B	0.006	N	1.000	D	0.845	L	-2.14	D	-0.815	T	0.370	T	0.147	0.709	7.777	-4.68	-0.843	1.044	14.599	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	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	0.2368	964.53	38	chr7	48103309	.	A	G	964.53	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.089e+00;DP=1700;ExcessHet=4.7172;FS=113.804;InbreedingCoeff=-0.3130;MLEAC=10;MLEAF=0.263;MQ=59.98;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.721;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,24:122:99:0|1:48103308_C_T:154,0,3309:48103308	10	0	9	2
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	0/1:134,30:189:99:.:.:174,0,4599	5	0	11	5
chr7	51026605	51026605	C	T	exonic	COBL	.	nonsynonymous SNV	COBL:NM_001346442:exon11:c.G3445A:p.E1149K	.	.	417	1101	3	1	0	5	0.00226552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.001	D	1.000	D	1.04	L	0.92	T	-0.748	T	0.182	T	0.797	3.599	18.32	5.0	2.294	4.341	15.018	0.281	0.0605398531829	7.7e-05	.	8.243e-05	0	0	0.0001	0.0002	0.0001	0	0	8.41e-05	13	154602	rs375921623	7.662e-05	7.73e-05	8.44e-05	6.876e-05	8.094e-05	6.491e-05	6.07e-05	6.696e-05	6.197e-05	0	2.236e-05	0	5.038e-05	0.0003	0	8.094e-05	4.968e-05	1.159e-05	8.539e-05	8.536e-05	6.422e-05	0.0001	0.0002	4.956e-05	3.961e-05	5.283e-05	2.834e-05	2.412e-05	0	0.0002	0	0	0.0004	0	7.349e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000778	0.41888	D	0.000000	0.978646	0.39482	D	2.135	0.59519	M	0.92	0.44461	T	-2.67	0.57110	D	0.729	0.73015	-0.7482	0.58029	T	0.182	0.52996	T	10	0.35547838	0.52308	T	0.06054	0.68036	D	0.281	0.59861	.	.	0.6216901815	0.61862	0.5252345117657378	0.52447	0.369878392956	0.38515	0.616666316986	0.55257	T	0.211926	0.75810	T	-0.0417071	0.45695	T	-0.111782	0.62468	T	0.452778667211533	0.30899	T	0.973303	0.93912	D	0.41465133	0.61734	0.43749774	0.67167	0.41465133	0.61734	0.43749774	0.67167	-13.49	0.91280	D	.	.	0.363	0.61061	A	.;.;.;.	.;.;.;.	3.883322	0.56458	23.7	0.9991635367915217	0.98449	0.94921	0.62793	D	AEFDGBI	0.697435	0.65544	D	0.41587314216504	0.62293	4.44303	0.369119011930472	0.59669	4.146584	0.999999998588274	0.74766	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.0	5.0	0.66209	4.153000	0.57895	3.173000	0.36621	0.599000	0.40250	0.999000	0.42656	0.997000	0.33255	0.075000	0.16954	0.0:1.0:0.0:0.0	15.018	0.71266	940	0.13648	WH2 domain|WH2 domain|WH2 domain;WH2 domain|WH2 domain|WH2 domain;WH2 domain|WH2 domain|WH2 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	957.98	38	chr7	51026605	.	C	T	957.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=775;ExcessHet=0.0000;FS=3.261;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=-1.375e+00;SOR=1.050	GT:AD:DP:GQ:PL	0/1:35,34:69:99:972,0,864	20	0	1	0
chr7	55819148	55819148	A	G	exonic	SEPTIN14	.	nonsynonymous SNV	SEPTIN14:NM_207366:exon7:c.T796C:p.Y266H,	.	.	438	1078	6	0	0	6	0.00277521	.	.	3317685	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.995	D	4.265	H	0.1	T	0.293	D	0.527	D	0.458	3.765	19.12	3.85	1.730	5.883	10.914	0.511	0.0177265798952	0.0002	.	0.0008	0	0.0009	0	0	0.0013	0	0.0008	0.0002458	38	154602	rs368110863	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0002	0.0005	0.0004	0	7.447e-05	7.836e-05	0	3.87e-05	0.0010	0.0002	0.0004	0.0006	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.24e-05	0.0001	0.0001	2.413e-05	0	0.0003	0	0	0	0	0.0002	0.0010	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000087	0.51296	D	0.000000	0.994806	0.42423	D	4.17	0.97676	H	0.1	0.61326	T	-4.73	0.80085	D	0.856	0.85238	0.293	0.87451	D	0.527	0.82423	D	10	0.70511633	0.72688	D	0.017727	0.39542	T	0.511	0.79033	.	.	0.82953268579	0.82791	0.8631753119063565	0.86281	0.488469659113	0.47645	0.795006930828	0.81203	T	0.37677	0.74009	T	-0.179676	0.23783	T	-0.15532	0.58771	T	0.862921714782715	0.51320	D	0.985476	0.95021	D	0.8406141	0.86652	0.72309667	0.83647	0.8406141	0.86654	0.72309667	0.83648	-10.879	0.78990	D	.	.	0.769	0.75873	P	.	.	4.577351	0.72282	25.8	0.99859969831478768	0.93820	0.89689	0.50315	D	AEFDI	0.598128	0.59164	D	0.826979044880065	0.87763	9.331443	0.66692755664816	0.79878	7.176116	0.0025009672325353	0.09478	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.85	3.85	0.43556	6.069000	0.70846	10.691000	0.83578	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	10.914	0.46333	845	0.36510	Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2535.11	34	chr7	55819148	.	A	G	2535.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.714;DP=901;ExcessHet=0.1072;FS=3.741;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=1.24;SOR=0.496	GT:AD:DP:GQ:PL	0/1:59,63:122:99:1486,0,1436	19	0	2	0
chr7	66089678	66089678	G	A	exonic	ASL	.	nonsynonymous SNV	ASL:NM_001024944:exon12:c.G985A:p.V329I	Argininosuccinic aciduria, Autosomal recessive	YES	1	1509	12	0	0	12	0.0039604	.	.	562137	Argininosuccinate_lyase_deficiency|Inborn_genetic_diseases	Human_Phenotype_Ontology:HP:0025630,MONDO:MONDO:0008815,MedGen:C0268547,OMIM:207900,Orphanet:23|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.003	B	0.008	B	0.007	N	1.000	D	1.37	L	-5.49	D	0.847	D	0.901	D	0.2	3.185	16.66	3.27	1.167	3.442	10.878	0.417	0.767061574431	.	.	3.377e-05	0.0002	0	0	0	3.071e-05	0	0	3.23e-05	5	154602	rs372774556	1.642e-05	1.71e-05	1.498e-05	1.788e-05	0.0007	1.111e-05	9.34e-06	0.0002	0.0001	8.961e-05	2.237e-05	0	0	0	0.0007	7.196e-06	9.936e-05	2.319e-05	4.601e-05	4.597e-05	5.14e-05	4.036e-05	0.0001	2.11e-05	1.527e-05	6.284e-05	4.3e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.066	0.36709	T	0.074	0.43159	T	0.0	0.02946	B	0.004	0.10090	B	0.006580	0.31942	N	0.287960	0.999998	0.58761	D	1.705	0.44259	L	-5.49	0.99138	D	-0.79	0.22727	N	0.306	0.34552	0.847	0.94993	D	0.901	0.96728	D	10	0.3841306	0.54414	T	0.767062	0.98155	D	0.426	0.73372	.	.	0.772969789451	0.77088	0.4640831040065916	0.46327	0.214777660521	0.24017	0.470051646233	0.34688	T	0.333204	0.70308	T	-0.0564629	0.43457	T	-0.082213	0.64741	T	0.0393144343705906	0.03566	T	0.90251	0.65969	D	0.088668205	0.20692	0.058937516	0.10977	0.088668205	0.20692	0.058937516	0.10977	-7.332	0.56422	T	0.27305654431238924	0.36701	0.098	0.29311	B	.;.;.;.;.	.;.;.;.;.	3.859400	0.55956	23.7	0.99557602303616932	0.71583	0.91689	0.54055	D	AEFDBI	0.731633	0.67865	D	-0.151347175078262	0.35176	2.017264	-0.016678462299334	0.38961	2.303016	0.175600548627444	0.17799	0.732398	0.92422	0	0.643519	0.57511	0	0.570548	0.19454	0	0.727631	0.95156	0	.	.	5.09	3.27	0.36580	4.112000	0.57585	3.165000	0.36586	0.655000	0.54021	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1552:0.0:0.8448:0.0	10.878	0.46131	474	0.77851	.;.;.;.;.	.	.	.	.	.	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	1143.98	37	chr7	66089678	.	G	A	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.620;DP=868;ExcessHet=0.0000;FS=0.790;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=-6.830e-01;SOR=0.578	GT:AD:DP:GQ:PL	0/1:46,45:91:99:1158,0,1139	20	0	1	0
chr7	92398714	92398714	A	G	exonic	ANKIB1	.	nonsynonymous SNV	ANKIB1:NM_019004:exon20:c.A3035G:p.K1012R,	.	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.081	N	1.000	N	-0.55	N	3.02	T	-0.926	T	0.008	T	0.019	-1.460	0.019	3.53	0.919	0.606	7.302	0.048	0.00186853546104	0.0004	0.000399361	0.0007	0	0.0003	0	0	0.0004	0	0.0032	0.0005692	88	154602	rs200594136	0.0004	0.0004	0.0003	0.0005	0.0035	0.0004	0.0003	0.0032	0.0031	2.987e-05	0.0007	0	0	0	0.0024	0.0002	0.0006	0.0035	0.0004	0.0004	0.0003	0.0005	0.0035	0.0003	0.0003	0.0022	0.0018	7.217e-05	0	0.0012	0	0	0	0	0.0003	0.0014	0.0035	1.0	0.00964	T	0.758	0.04669	T	0.0	0.02946	B	0.0	0.01387	B	0.080748	0.20906	N	0.541750	1	0.08975	N	-0.55	0.02420	N	3.02	0.08986	T	0.17	0.05125	N	0.014	0.00160	-0.9257	0.44758	T	0.008	0.02679	T	10	0.004474491	0.00092	T	0.001869	0.03272	T	0.048	0.13305	.	.	0.0934897674506	0.08844	0.07853831651251968	0.07788	0.0585878493538	0.06494	0.282645702362	0.07865	T	0.010218	0.09245	T	-0.717849	0.00028	T	-0.806967	0.01734	T	0.00561764286627731	0.00061	T	0.562944	0.19809	T	0.022275891	0.00879	0.026650626	0.00766	0.022275891	0.00879	0.026650626	0.00766	-2.513	0.05870	T	.	.	0.062	0.01328	B	.	.	1.300029	0.17018	12.91	0.10474812889946621	0.00133	0.02017	0.06061	N	AEFBI	0.022604	0.01152	N	-1.15549944004457	0.05690	0.2600451	-1.00659958343286	0.09639	0.4807482	0.00947765323706428	0.11861	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.34	3.53	0.39533	0.465000	0.21715	2.806000	0.34880	-0.137000	0.12594	0.061000	0.21800	1.000000	0.68203	0.965000	0.52897	0.1593:0.1989:0.6418:0.0	7.302	0.25598	586	0.69252	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1942.98	33	chr7	92398714	.	A	G	1942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.932e+00;DP=898;ExcessHet=0.0000;FS=1.264;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=0.374;SOR=0.565	GT:AD:DP:GQ:PL	0/1:90,73:163:99:1957,0,2637	20	0	1	0
chr7	97988530	97988530	G	C	exonic	OCM2	.	nonsynonymous SNV	OCM2:NM_006188:exon2:c.C80G:p.P27R,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.667	P	0.107	B	0.003	N	0.990	D	1.525	L	-0.59	T	-0.629	T	0.203	T	0.441	1.659	11.50	3.0	2.074	1.049	10.614	0.262	0.00885405381223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.154	0.32040	T	0.667	0.41107	P	0.107	0.31211	B	0.002623	0.36208	N	0.273612	0.989567	0.40978	D	1.445	0.36358	L	-0.59	0.71543	T	-0.78	0.21644	N	0.614	0.63035	-0.6292	0.63605	T	0.203	0.56003	T	10	0.4763866	0.60168	T	0.008854	0.23342	T	0.262	0.57482	0.527	0.63263	0.659846786681	0.65699	0.8519214022063897	0.85154	0.0962206181289	0.10857	0.881232857704	0.94125	D	0.064857	0.32541	T	-0.0227742	0.48458	T	-0.27049	0.47770	T	0.406093646902483	0.29171	T	0.937106	0.76374	D	0.12222858	0.28726	0.1486261	0.35125	0.12222858	0.28726	0.1486261	0.35124	-2.482	0.05660	T	.	.	0.672	0.71799	P	.	.	3.630487	0.51428	23.1	0.97567790509212904	0.34659	0.51021	0.28798	D	AEFBI	0.128795	0.24671	N	0.047178150289728	0.44011	2.683165	0.0977396329034856	0.44434	2.725326	4.67842787405193E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.98	3.0	0.33773	2.205000	0.42407	9.526000	0.80940	0.566000	0.28629	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.714:0.286	10.614	0.44629	662	0.61715	.	.	.	.	.	.	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	2235.98	34	chr7	97988530	.	G	C	2235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=920;ExcessHet=0.0000;FS=5.965;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=-4.480e-01;SOR=1.112	GT:AD:DP:GQ:PL	0/1:103,96:199:99:2250,0,2377	20	0	1	0
chr7	99425250	99425250	C	T	exonic	ATP5MF-PTCD1;PTCD1	.	nonsynonymous SNV	PTCD1:NM_015545:exon6:c.G1282A:p.A428T	.	.	419	1069	34	0	0	34	0.0156538	.	.	2825912	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.53	T	0.06	B	0.021	B	0.323	N	1.000	N	0.345	N	-0.09	T	-1.026	T	0.105	T	0.154	1.099	9.484	2.75	0.275	0.090	6.653	0.019	.	0.0012	0.00219649	0.0022	0.0005	0.0008	0	0.0002	0.0017	0.0044	0.0083	0.0020504	317	154602	rs147045279	0.0017	0.0017	0.0014	0.0019	0.0141	0.0016	0.0016	0.0116	0.0107	0.0005	0.0011	0.0015	0	5.628e-05	0.0141	0.0012	0.0022	0.0087	0.0014	0.0014	0.0013	0.0015	0.0075	0.0013	0.0012	0.0055	0.0049	0.0004	0	0.0018	0.0017	0	9.416e-05	0.0170	0.0017	0.0033	0.0075	0.628	0.05262	T	0.581	0.08476	T	0.036	0.23119	B	0.005	0.19346	B	0.323285	0.14234	N	0.719311	1	0.08975	N	0.345	0.11182	N	-0.12	0.64630	T	0.44	0.03243	N	0.189	0.21056	-1.0264	0.21625	T	0.105	0.38464	T	10	0.0060635805	0.00136	T	.	.	.	0.019	0.03383	.	.	0.253205268125	0.24938	0.2198370897639818	0.24760	0.0920449276398	0.10393	0.221883535385	0.01422	T	0.010152	0.09188	T	-0.504016	0.00543	T	-0.490363	0.23352	T	0.000743209232149787	0.00007	T	0.238576	0.03390	T	0.021128131	0.00700	0.034246337	0.02459	0.021128131	0.00700	0.034246337	0.02459	-4.056	0.24639	T	.	.	0.066	0.02927	B	.;.	.;.	0.545576	0.09141	5.925	0.65804664471432339	0.07877	0.01854	0.05730	N	AEFBI	0.028975	0.02651	N	-1.14432020220704	0.05874	0.2689332	-1.10255730857523	0.07651	0.3730167	1.45210377330431E-4	0.05573	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.66	2.75	0.31439	0.236000	0.17745	1.932000	0.29777	-0.107000	0.15377	0.002000	0.15269	0.962000	0.29361	0.034000	0.13613	0.3204:0.1307:0.5489:0.0	6.653	0.22162	400	0.82730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4612.92	34	chr7	99425250	.	C	T	4612.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.33;DP=1015;ExcessHet=0.6776;FS=1.657;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=0.468;SOR=0.631	GT:AD:DP:GQ:PL	0/1:47,41:88:99:1134,0,1208	17	0	4	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|1:60,56:116:99:0|1:100175805_G_C:1316,0,1865:100175805	0	0	21	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	11054.86	98	chr7	100773851	.	A	G,*	11054.86	.	AC=6,31;AF=0.143,0.738;AN=42;DP=2409;ExcessHet=1.1607;FS=0.796;InbreedingCoeff=-0.1351;MLEAC=6,31;MLEAF=0.143,0.738;MQ=60.00;QD=4.79;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,124:124:99:1|1:100773849_CCAT_C:5547,5547,5547,373,373,0:100773849	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|1:0,124,0:124:99:1|1:100773849_CCAT_C:5547,373,0,5547,373,5547:100773849	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|1:437,157,66:660:99:0|1:100952942_T_G:5277,0,17877,3821,15578,21972:100952942	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|1:706,94,0:800:99:0|1:100953014_G_A:1822,0,29362,3947,29645,33592:100953014	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|1:756,69:825:99:0|1:100953014_G_A:622,0,31537:100953014	14	0	7	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|2:410,71,78:559:99:0|1:100953098_G_C:2041,294,17296,0,14235,16981:100953098	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	0/1:414,73,51:558:99:1819,0,17164,924,15242,18154	1	0	18	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	2681.5	334	chr7	100953225	.	G	A,*	2681.5	.	AC=9,3;AF=0.265,0.088;AN=34;BaseQRankSum=4.49;DP=8651;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=10,3;MLEAF=0.294,0.088;MQ=58.08;MQRankSum=-1.903e+01;QD=0.52;ReadPosRankSum=-5.501e+00;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:365,39,30:434:99:0|1:100953222_C_T:510,0,15786,366,13969,15467:100953222	5	0	9	4
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	0/1:416,203,0:699:99:.:.:7272,0,16857,8524,17468,25992	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|1:1051,89,0:1140:99:0|1:100953486_C_A:573,0,43855,3737,44123,47860:100953486	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|1:956,188,0:1144:99:0|1:100953471_A_C:4895,0,39202,7772,39767,47539:100953471	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	0/1:1025,143,0:1168:99:.:.:2919,0,42609,6005,43040,49044	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|1:635,65,0:700:99:0|1:100954953_T_A:818,0,26427,2729,26623,29352:100954953	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|2:398,19,48:465:99:0|1:100955170_G_T:817,1218,17872,0,15914,16567:100955170	13	0	3	1
chr7	100955917	100955917	G	0	exonic	MUC3A	.	.	.	.	.	766	657	81	4	14	103	0.0634355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	30532.88	499	chr7	100955917	.	G	C,*	30532.88	.	AC=10,3;AF=0.278,0.083;AN=36;BaseQRankSum=-1.985e+00;DP=19448;ExcessHet=11.8493;FS=4.100;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.306,0.083;MQ=56.33;MQRankSum=-1.229e+01;QD=2.43;ReadPosRankSum=2.52;SOR=1.144	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:872,152,0:1024:99:0|1:100955912_C_T:3758,0,36158,6382,36615,42998:100955912	5	0	10	3
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A,	.	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4048	23255.17	557	chr7	100955959	.	ACC	A,GCC	23255.17	.	AC=15,2;AF=0.357,0.048;AN=42;BaseQRankSum=3.10;DP=16785;ExcessHet=25.1139;FS=4.174;InbreedingCoeff=-0.6800;MLEAC=15,2;MLEAF=0.357,0.048;MQ=57.02;MQRankSum=-1.169e+01;QD=1.66;ReadPosRankSum=-1.368e+00;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:720,77,0:797:99:0|1:100955908_C_T:1066,0,30001,3233,30233,33466:100955908	4	0	15	0
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|1:432,152,124:708:99:0|1:100960582_T_A:6577,0,17330,752,14114,18095:100960582	0	0	15	0
chr7	100993793	100993793	G	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G3230C:p.R1077P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	.	.	.	.	.	.	1.000	N	0	N	2.56	T	-0.960	T	0.013	T	0.075	-1.543	0.015	-1.43	-1.374	-3.324	3.600	0.012	0.00621508415409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.401e-07	2.145e-06	1.666e-06	0	.	0	0	.	.	0	0	4.363e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.16305	T	0.121	0.38305	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.245	0.00777	N	2.56	0.13673	T	0.74	0.02195	N	0.072	0.04547	-0.9602	0.39143	T	0.013	0.05321	T	7	0.043498784	0.03206	T	0.006215	0.16288	T	0.012	0.01476	0.248	0.18447	0.0611884634855	0.05136	0.005906217657864873	0.00559	.	.	0.43521848321	0.29923	T	0.003125	0.02525	T	-0.402733	0.02222	T	-0.816275	0.01529	T	0.0403918094199361	0.03762	T	0.19518	0.02617	T	0.06752166	0.14628	0.06679672	0.13731	0.06752166	0.14627	0.06679672	0.13730	-0.242	0.00516	T	.	.	0.128	0.27222	B	.;.	.;.	-0.934925	0.00869	0.031	0.29610672802724564	0.01579	0.00031	0.00285	N	AEFI	0.033891	0.04103	N	-1.54228350050429	0.01580	0.06903556	-1.7230075608435	0.01039	0.04663319	7.56152405580516E-5	0.04552	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.713	-1.43	0.08418	-1.643000	0.02106	-8.680000	0.00930	-1.778000	0.00656	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2214:0.4862:0.2924	3.600	0.07567	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	0.1	2373.58	147	chr7	100993793	.	G	A,C	2373.58	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=0.552;DP=2632;ExcessHet=0.6776;FS=5.019;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=29.88;MQRankSum=1.67;QD=3.85;ReadPosRankSum=0.093;SOR=1.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:94,0,43:137:99:.:.:1104,1386,3513,0,2128,1999	16	0	3	1
chr7	101037015	101037015	A	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A5599C:p.T1867P,	.	.	417	942	154	0	9	163	0.0755643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.985	D	0.429	B	.	.	1.000	N	0.895	L	4.26	T	-0.928	T	0.007	T	0.195	-0.397	2.141	-1.13	-0.266	1.153	3.858	0.088	.	.	0.048123	0.0050	0.0087	0.0080	0.0242	0.0021	0.0004	0.0056	0.0112	0.0093745	244	26028	rs201970250	0.0002	0.0003	0.0001	0.0002	0.0029	0.0002	0.0002	0.0024	0.0023	0.0002	0.0002	0	0.0029	3.966e-05	0	0	8.722e-05	0.0020	0.0002	0.0006	0.0002	0.0002	0.0013	0.0001	0.0001	0.0005	0.0003	0.0005	0	0.0002	0	0	0.0002	0	1.594e-05	0	0.0013	0.229	0.18371	T	.	.	.	0.985	0.61118	D	0.429	0.45365	B	.	.	.	.	1	0.08975	N	2.455	0.71248	M	4.26	0.02538	T	-1.07	0.27876	N	0.128	0.12198	-0.9277	0.44473	T	0.007	0.02518	T	9	0.003565222	0.00064	T	.	.	.	0.088	0.25558	.	.	0.0611884634855	0.05136	0.002191109293456971	0.00203	.	.	0.351847529411	0.18193	T	0.016686	0.13743	T	-0.60438	0.00137	T	-0.631531	0.10299	T	0.0159473787907998	0.00378	T	0.261374	0.04213	T	0.15294392	0.34692	0.075604185	0.16662	0.15294392	0.34692	0.075604185	0.16661	-6.419	0.49657	T	.	.	0.120	0.24800	B	.	.	0.701578	0.10706	7.397	0.14541750727747688	0.00324	0.01581	0.05150	N	AEFGBI	0.143396	0.26609	N	-0.779157462639097	0.13853	0.6855809	-1.02874192314484	0.09156	0.453968	4.52875406325812E-4	0.07036	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.13	0.09274	0.592000	0.23685	-0.123000	0.11700	0.377000	0.20376	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.678:0.0:0.0:0.322	3.858	0.08490	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	5841.15	510	chr7	101037015	.	A	AC,C	5841.15	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=-2.073e+00;DP=11424;ExcessHet=0.6776;FS=0.857;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=55.12;MQRankSum=-1.246e+01;QD=1.95;ReadPosRankSum=4.83;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:758,79,0:837:99:0|1:101037012_AG_A:1030,0,31424,3312,31662,34973:101037012	17	0	3	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.58	M	0.09	T	-0.079	T	0.414	T	0.931	4.705	26.1	4.65	1.469	7.967	14.775	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	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	0.25	1847.14	124	chr7	102934283	.	G	C	1847.14	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-4.298e+00;DP=2977;ExcessHet=6.1002;FS=207.422;InbreedingCoeff=-0.3468;MLEAC=11;MLEAF=0.275;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.257;SOR=12.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:144,35:179:99:.:.:170,0,3469	10	0	10	1
chr7	108571844	108571844	C	T	exonic	DNAJB9	.	nonsynonymous SNV	DNAJB9:NM_012328:exon2:c.C118T:p.R40C,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.995	D	0.000	D	1.000	D	2.27	M	1.52	T	-0.783	T	0.188	T	0.791	4.765	26.7	4.45	1.209	3.008	14.660	0.311	0.0795097409136	7.7e-05	0.000399361	8.24e-06	0	0	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs141827302	2.736e-05	2.736e-05	2.722e-05	2.75e-05	0.0002	2.062e-05	1.816e-05	2.201e-05	1.942e-05	5.974e-05	4.472e-05	0	2.52e-05	0	0.0002	3.058e-05	0	0	6.57e-05	6.562e-05	7.713e-05	5.374e-05	0.0004	3.516e-05	2.616e-05	8.87e-05	5.281e-05	0	0	0.0003	0	0.0004	0	0	5.882e-05	0	0	0.002	0.72154	D	0.015	0.61642	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.915	0.51223	L	1.52	0.30669	T	-5.31	0.84457	D	0.629	0.64308	-0.7833	0.56115	T	0.188	0.53886	T	9	0.4037773	0.55750	T	0.07951	0.73251	D	0.311	0.63269	.	.	0.396044805602	0.39223	0.5451437094203764	0.54440	0.0801878685047	0.09027	0.787258386612	0.80025	T	0.333587	0.70342	T	-0.0461042	0.45037	T	-0.122474	0.61599	T	0.847543656826019	0.49955	D	0.986201	0.95317	D	0.5866803	0.71972	0.5466279	0.73792	0.5866803	0.71973	0.5466279	0.73792	-13.749	0.92212	D	.	.	0.575	0.67844	P	.	.	4.994346	0.82817	27.9	0.99929305051392381	0.99279	0.87720	0.47355	D	AEFDBHCI	0.815309	0.73732	D	0.527406067529529	0.68717	5.25568	0.48261800179724	0.66839	5.004542	0.999999999672943	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.643519	0.47002	0	0.651492	0.60203	0	.	.	5.34	4.45	0.53365	3.069000	0.49724	2.788000	0.34778	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1459:0.8541:0.0:0.0	14.660	0.68467	868	0.31772	DnaJ domain|DnaJ domain|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	1120.98	42	chr7	108571844	.	C	T	1120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=967;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=1.27;SOR=0.646	GT:AD:DP:GQ:PL	0/1:64,43:107:99:1135,0,1609	20	0	1	0
chr7	122702036	122702036	G	A	exonic	RNF148	.	nonsynonymous SNV	RNF148:NM_198085:exon1:c.C715T:p.L239F,	.	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.994	D	.	.	1.000	D	2.165	M	3.2	T	-1.192	T	0.059	T	0.698	2.790	15.29	4.29	2.510	3.205	9.580	0.152	0.0168151764601	.	0.00139776	0.0007	0	8.769e-05	0.0085	0	6.02e-05	0	0.0005	0.0006145	95	154602	rs187667058	0.0003	0.0003	0.0003	0.0003	0.0060	0.0003	0.0003	0.0053	0.0051	0	0.0003	0.0007	0.0060	0	0.0007	2.519e-05	0.0003	0.0012	0.0003	0.0003	0.0003	0.0003	0.0069	0.0003	0.0002	0.0052	0.0045	2.407e-05	0	0.0002	0.0017	0.0069	0	0	4.41e-05	0.0005	0	0.002	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.999978	0.53665	D	2.585	0.75554	M	3.2	0.07236	T	-3.81	0.71882	D	0.502	0.53445	-1.1921	0.00219	T	0.059	0.24834	T	9	0.009398162	0.00212	T	0.016815	0.38254	T	0.152	0.39956	.	.	0.425615883737	0.42182	0.0420692020371326	0.04151	0.0175200015799	0.01705	0.462543666363	0.33660	T	0.269186	0.64136	T	-0.338683	0.05480	T	-0.254425	0.49378	T	0.0807887189350038	0.10088	T	0.925307	0.72522	D	0.4037397	0.60990	0.431583	0.66771	0.4037397	0.60991	0.431583	0.66771	-9.312	0.69682	D	.	.	0.378	0.58298	A	.	.	4.511733	0.70660	25.6	0.99884188853525324	0.95970	0.80026	0.39776	D	AEFI	0.134903	0.25506	N	0.638480180115095	0.75626	6.339187	0.593274118341125	0.74456	6.140208	0.0011221123828029	0.08250	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.37	4.29	0.50359	1.442000	0.34656	7.503000	0.59513	0.676000	0.76740	0.948000	0.32982	1.000000	0.68203	0.969000	0.54022	0.207:0.0:0.793:0.0	9.580	0.38644	701	0.57775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2857.98	36	chr7	122702036	.	G	A	2857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.980e-01;DP=936;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=2.19;SOR=0.703	GT:AD:DP:GQ:PL	0/1:125,111:236:99:2872,0,3411	20	0	1	0
chr7	123582083	123582083	T	C	splicing	NDUFA5	NM_001291304:exon3:c.86-2A>G	.	.	.	.	563	874	78	7	0	92	0.05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0135783	.	.	.	.	.	.	.	.	0.0111803	291	26028	rs184260455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0095	0.0095	0.0099	0.0092	0.0329	0.0091	0.0090	0.0287	0.0272	0.0021	0.0044	0.0125	0.0421	0.0006	0.0018	0.0306	0.0118	0.0133	0.0329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1534.68	31	chr7	123582083	.	T	C	1534.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.931e+00;DP=721;ExcessHet=0.3300;FS=3.855;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=0.367;SOR=0.392	GT:AD:DP:GQ:PL	0/1:21,17:38:99:402,0,619	18	0	3	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|1:193,23:216:99:0|1:128479325_T_C:346,0,7983:128479325	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|1:193,23:216:99:0|1:128479325_T_C:346,0,7983:128479325	6	0	9	6
chr7	134247605	134247605	T	C	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_144648:exon17:c.T2033C:p.M678T,	.	.	423	1081	18	0	0	18	0.00825688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.039	B	0.023	B	0.206	N	0.990	N	1.78	L	1.3	T	-1.006	T	0.053	T	0.194	0.944	8.847	3.38	0.432	1.161	6.247	0.023	.	0.0079	0.00379393	0.0086	0.0016	0.0055	0	0.0142	0.0123	0.0088	0.0023	0.0083828	1296	154602	rs34904752	0.0089	0.0089	0.0091	0.0087	0.0121	0.0088	0.0087	0.0099	0.0099	0.0015	0.0054	0.0015	2.52e-05	0.0128	0.0121	0.0101	0.0093	0.0021	0.0068	0.0068	0.0070	0.0066	0.0103	0.0064	0.0063	0.0096	0.0094	0.0019	0	0.0057	0.0003	0	0.0129	0.0204	0.0103	0.0090	0.0015	0.704	0.04120	T	0.426	0.13872	T	0.039	0.21116	B	0.023	0.19966	B	0.206103	0.16479	N	0.640417	0.990165	0.24206	N	1.7	0.43825	L	1.3	0.35590	T	-0.67	0.19297	N	0.413	0.45331	-1.0055	0.28307	T	0.053	0.22384	T	10	0.007685095	0.00175	T	.	.	.	0.023	0.04649	.	.	0.465381546717	0.46164	0.1637247789356494	0.16292	0.058629802935	0.06498	0.428148508072	0.28956	T	0.004519	0.03927	T	-0.540982	0.00330	T	-0.539471	0.18348	T	0.00670411848516275	0.00075	T	0.468553	0.13811	T	0.10672585	0.25235	0.111024044	0.26777	0.10672585	0.25235	0.111024044	0.26776	-3.656	0.18671	T	.	.	0.110	0.21277	B	.	.	2.388698	0.30670	18.51	0.86297210771653698	0.16442	0.60187	0.31124	D	AEFGBI	0.088050	0.17850	N	-0.377254738314684	0.26282	1.43315	-0.260500510812466	0.29410	1.647571	0.654893918892932	0.22206	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.83	3.38	0.37806	1.237000	0.32298	4.407000	0.43268	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.839000	0.39591	0.0:0.0792:0.3128:0.608	6.247	0.20038	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1483.98	34	chr7	134247605	.	T	C	1483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.850e-01;DP=831;ExcessHet=0.0000;FS=1.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-2.600e-01;SOR=0.770	GT:AD:DP:GQ:PL	0/1:64,64:128:99:1498,0,1553	20	0	1	0
chr7	139417669	139417669	G	A	exonic	FMC1-LUC7L2;LUC7L2	.	nonsynonymous SNV	LUC7L2:NM_016019:exon9:c.G941A:p.R314H	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.006	B	0.002	B	0.000	N	0.981	D	0.935	L	3.29	T	-1.015	T	0.068	T	0.391	3.615	18.40	5.69	2.698	3.818	13.062	0.038	0.00318568916121	.	.	8.282e-06	0	0	0.0001	0	0	0	0	3.84e-05	1	26028	rs755882814	4.788e-06	4.788e-06	8.167e-06	1.375e-06	0.0002	1.99e-06	1.28e-06	2.004e-05	1.055e-05	2.987e-05	4.472e-05	0	7.557e-05	0	0.0002	0	0	0	1.314e-05	1.313e-05	0	2.691e-05	0.0001	2.18e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.143	0.36310	T	0.135	0.40110	T	0.005	0.12996	B	0.002	0.06944	B	0.000001	0.84330	N	0.100046	.	.	.	-0.265	0.03777	N	1.36	0.34452	T	-0.57	0.17210	N	0.361	0.43610	-1.0150	0.25336	T	0.068	0.27980	T	9	0.11088607	0.20743	T	0.003186	0.06966	T	0.038	0.09825	0.24	0.17218	0.174091166621	0.17034	0.3034430781038266	0.30257	0.489858730717	0.47738	.	.	.	0.016098	0.13370	T	-0.320591	0.06850	T	-0.406135	0.32672	T	0.366217711322863	0.27651	T	0.949105	0.81346	D	0.07023061	0.15451	0.07216691	0.15538	0.07023061	0.15450	0.07216691	0.15538	-6.244	0.48674	T	.	.	0.087	0.16187	B	.;.;.;.;.	.;.;.;.;.	4.310953	0.65896	24.9	0.9981621704363991	0.89973	0.90694	0.52085	D	AEFBHI	0.684208	0.64662	D	-0.017041965616679	0.41085	2.451204	0.195062736805097	0.49575	3.159111	0.999811362305973	0.43459	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	3.902000	0.56023	9.899000	0.82334	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0732:0.0:0.9268:0.0	13.062	0.58424	802	0.44336	.;.;.;.;.	.	.	.	.	.	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	1982.98	33	chr7	139417669	.	G	A	1982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=833;ExcessHet=0.0000;FS=3.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-1.370e-01;SOR=0.445	GT:AD:DP:GQ:PL	0/1:81,77:158:99:1997,0,2022	20	0	1	0
chr7	139953397	139953397	C	A	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon5:c.C297A:p.D99E	Ghosal hematodiaphyseal syndrome, Autosomal recessive	.	1	1470	48	2	1	53	0.0173797	.	.	710823	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001682	26	154602	rs5768	0.0068	0.0068	0.0067	0.0069	0.0140	0.0067	0.0066	0.0116	0.0107	0.0009	0.0058	0.0243	0	0.0020	0.0140	0.0071	0.0078	0.0053	0.0048	0.0048	0.0047	0.0048	0.0065	0.0045	0.0044	0.0060	0.0058	0.0011	0.0022	0.0052	0.0265	0.0006	0.0020	0.0136	0.0065	0.0099	0.0035	.	.	.	0.185	0.28958	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.15046	.	.	.	.	.	.	.	0.0074077547	0.00168	T	.	.	.	.	.	.	.	.	.	0.18858199189916144	0.18776	.	.	.	.	.	0.028943	0.20850	T	.	.	.	.	.	.	.	.	.	0.424958	0.12501	T	.	.	.	.	.	.	.	.	-3.967	0.23308	T	.	.	0.193	0.44694	B	.;.;.;.;.;.	.;.;.;.;.;.	1.396628	0.18099	13.55	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.341000	0.07858	0.189000	0.15722	0.596000	0.33519	0.003000	0.16062	0.004000	0.18990	0.997000	0.79791	.	.	.	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	0.07143	4514.68	34	chr7	139953397	.	C	A	4514.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.480e-01;DP=991;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-9.940e-01;SOR=0.707	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1441,0,1612	18	0	3	0
chr7	141724214	141724214	T	C	exonic	WEE2	.	nonsynonymous SNV	WEE2:NM_001105558:exon8:c.T1160C:p.I387T,	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.616	P	0.444	B	0.000	U	0.996	D	1.66	L	1.02	T	-0.530	T	0.273	T	0.263	1.741	11.78	5.71	2.171	2.796	15.978	0.131	0.0377963805797	.	.	8.285e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs756202556	6.842e-06	6.84e-06	2.723e-06	1.1e-05	0.0002	3.46e-06	2.52e-06	4.585e-05	3.277e-05	0	0	0	0	0	0.0002	8.994e-07	0	9.29e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.163	0.38016	T	0.616	0.39820	P	0.444	0.45865	B	0.000221	0.47286	U	0.136903	0.995868	0.42895	D	1.68	0.43186	L	1.02	0.64264	T	-3.86	0.72471	D	0.444	0.48227	-0.5305	0.67523	T	0.273	0.64474	T	10	0.21493232	0.38030	T	0.037796	0.57836	D	0.131	0.35738	0.547	0.66156	0.571137827458	0.56780	0.50241477843521	0.50163	0.676155866207	0.59746	0.447686314583	0.31627	T	0.167202	0.51374	T	-0.162059	0.26442	T	-0.369933	0.36897	T	0.879561841487885	0.52954	D	.	.	.	0.3436766	0.56570	0.30700666	0.56723	0.3436766	0.56570	0.30700666	0.56722	-6.852	0.52945	T	.	.	0.169	0.37235	B	.;.	.;.	2.889023	0.38257	20.7	0.98177639525254179	0.38916	0.67334	0.33395	D	AEFBI	0.322871	0.42524	N	0.104608042196178	0.46678	2.904487	0.120597754093883	0.45605	2.820605	0.164325803626696	0.17641	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.71	5.71	0.89031	2.302000	0.43298	.	.	0.665000	0.62972	0.052000	0.21487	1.000000	0.68203	0.810000	0.38174	0.0:0.0:0.0:1.0	15.978	0.79878	851	0.35303	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1313.98	33	chr7	141724214	.	T	C	1313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.984;DP=827;ExcessHet=0.0000;FS=2.517;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=0.518;SOR=0.730	GT:AD:DP:GQ:PL	0/1:52,54:106:99:1328,0,1231	20	0	1	0
chr7	142154760	142154760	A	G	exonic	MGAM2	.	nonsynonymous SNV	MGAM2:NM_001293626:exon17:c.A1838G:p.N613S,	.	.	430	1072	20	0	0	20	0.00924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	.	.	.	.	.	.	-0.173	T	0.370	T	0.072	3.835	19.48	5.68	2.289	6.708	15.204	0.197	0.00807965219213	.	0.00119808	0.0005	0	0	0	0	0.0013	0	0.0001	0.0003234	50	154602	rs145084583	0.0011	0.0010	0.0012	0.0010	0.0253	0.0010	0.0010	0.0213	0.0198	0.0006	0.0014	0.0025	3.115e-05	0	0.0253	0.0009	0.0018	0.0003	0.0007	0.0007	0.0007	0.0006	0.0009	0.0006	0.0005	0.0007	0.0007	0.0003	0	0.0007	0.0026	0.0002	0	0.0136	0.0009	0.0028	0.0006	0.085	0.32769	T	0.056	0.46632	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.6	0.55983	D	0.138	0.13626	-0.1735	0.78342	T	0.370	0.72963	T	4	0.01514712	0.00318	T	0.00808	0.21418	T	0.197	0.47942	.	.	0.128392430309	0.12331	0.43507429597032266	0.43424	.	.	.	.	.	0.655525	0.89598	D	-0.537679	0.00346	T	-0.580494	0.14501	T	0.0871772746648138	0.10879	T	.	.	.	0.061447065	0.12726	0.19447856	0.43072	0.061447065	0.12725	0.19447856	0.43072	-7.134	0.55006	T	.	.	0.1	0.17146	B	.	.	2.704978	0.35341	19.87	0.99784419552450443	0.87043	0.96157	0.67794	D	AEFI	0.763573	0.70063	D	0.243302580268753	0.53307	3.500308	0.266275206764208	0.53580	3.526303	0.999968812836323	0.48965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.68	5.68	0.88021	6.925000	0.75647	.	.	-0.053000	0.16966	0.852000	0.30477	0.200000	0.23563	0.027000	0.12703	1.0:0.0:0.0:0.0	15.204	0.72846	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1338.11	33	chr7	142154760	.	A	G	1338.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.520e-01;DP=785;ExcessHet=0.1072;FS=3.201;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.460;SOR=0.800	GT:AD:DP:GQ:PL	0/1:40,35:75:99:806,0,1006	19	0	2	0
chr7	142864297	142864299	CCT	-	exonic	EPHB6	.	nonframeshift deletion	EPHB6:NM_004445:exon7:c.497_499del:p.S177del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	.	0.0030	0.0009	0.0027	0.0001	0.0030	0.0040	0.0023	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/2:0,32,38,0:70:99:2839,1526,1426,1305,0,1301,2844,1531,1366,2892	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	1/2:0,32,38,0:70:99:2839,1526,1426,1305,0,1301,2844,1531,1366,2892	0	16	2	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|1:65,22:87:99:0|1:143478290_A_G:305,0,2097:143478290	3	0	18	0
chr7	144110361	144110361	T	A	exonic	OR2A2	.	nonsynonymous SNV	OR2A2:NM_001005480:exon1:c.T779A:p.V260D,	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.578	P	0.648	P	0.456	U	0.965	N	1.515	L	1.2	T	-0.970	T	0.038	T	0.178	0.021	4.122	-3.29	-0.634	-7.973	6.675	0.062	.	0.0078	0.00559105	0.0023	0.0225	0.0022	0	0	0.0004	0.0011	0.0001	0.0021992	340	154602	rs114208499	0.0009	0.0009	0.0010	0.0009	0.0249	0.0009	0.0009	0.0235	0.0230	0.0249	0.0022	0	0	5.616e-05	0.0064	0.0002	0.0022	8.115e-05	0.0070	0.0070	0.0070	0.0071	0.0238	0.0067	0.0065	0.0225	0.0220	0.0238	0	0.0026	0	0	0	0.0136	0.0004	0.0066	0	0.225	0.18626	T	0.605	0.07816	T	0.578	0.38765	P	0.648	0.52381	P	0.456090	0.12448	U	0.594559	0.964813	0.25965	N	1.1	0.28011	L	1.2	0.37405	T	-1.44	0.35399	N	0.244	0.27554	-0.9704	0.37115	T	0.038	0.16591	T	10	0.007163614	0.00163	T	.	.	.	0.062	0.17934	.	.	0.0884992946249	0.08302	0.19533613346203557	0.19450	0.102520623548	0.11603	0.260199904442	0.04914	T	0.003736	0.03140	T	-0.604433	0.00137	T	-0.622078	0.11024	T	0.0467355559531289	0.04917	T	0.422258	0.11242	T	0.20452476	0.42564	0.3495545	0.60578	0.20452476	0.42564	0.3495545	0.60578	-7.682	0.58882	D	.	.	0.204	0.42948	B	.	.	1.161711	0.15504	11.90	0.72444375964395658	0.09976	0.02878	0.07656	N	AEFHCI	0.057098	0.10609	N	-1.13943039949835	0.05955	0.2729132	-1.36885446956267	0.03589	0.1676981	7.88403433616157E-4	0.07810	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	3.47	-3.29	0.04706	-5.771000	0.00120	-20.000000	0.00162	-0.309000	0.06099	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.2224:0.1491:0.6285	6.675	0.22275	900	0.24599	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2217.98	86	chr7	144110361	.	T	A	2217.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.482e+00;DP=1321;ExcessHet=0.0000;FS=3.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.73;MQRankSum=2.20;QD=12.90;ReadPosRankSum=-1.531e+00;SOR=0.475	GT:AD:DP:GQ:PL	0/1:91,81:172:99:2232,0,2666	20	0	1	0
chr7	144232832	144232832	-	T	exonic	OR2A42	.	frameshift insertion	OR2A42:NM_001001802:exon1:c.11dupA:p.N4Kfs*169,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245391639	8.48e-05	7.211e-05	6.773e-05	9.99e-05	0.0006	6.387e-05	5.621e-05	0.0001	7.838e-05	0	3.898e-05	0	0	0	0.0006	0.0001	0.0002	0	7.051e-05	6.592e-05	6.86e-05	7.254e-05	0.0001	3.759e-05	2.892e-05	6.095e-05	4.422e-05	0	0	0	0	0	0	0.0036	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	237.3	34	chr7	144232832	.	A	AT	237.3	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.325e+00;DP=655;ExcessHet=0.0000;FS=14.114;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=27.00;MQRankSum=0.00;QD=5.16;ReadPosRankSum=0.213;SOR=0.045	GT:AD:DP:GQ:PL	0/1:34,12:46:99:251,0,963	19	0	1	1
chr7	144267434	144267434	C	T	exonic	CTAGE4;CTAGE8	.	nonsynonymous SNV	CTAGE8:NM_001278507:exon1:c.G1817A:p.R606K	.	.	585	923	13	1	0	15	0.00806018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.045	B	0.06	B	.	.	1.000	N	.	.	1.27	T	-1.010	T	0.059	T	0.039	0.027	4.156	.	0.172	0.344	.	0.006	0.615759826474	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1355417379	0.0036	0.0083	0.0035	0.0038	0.0052	0.0035	0.0035	0.0047	0.0045	0.0012	0.0043	0.0060	0.0010	0.0079	0.0029	0.0034	0.0042	0.0052	0.0099	0.0089	0.0095	0.0103	0.0138	0.0092	0.0089	0.0126	0.0122	0.0042	0	0.0041	0.0119	0	0.0176	0.0056	0.0138	0.0056	0.0050	0.129	0.26852	T	0.505	0.11004	T	0.045	0.21781	B	0.06	0.26717	B	.	.	.	.	1	0.08975	N	1.925	0.51371	L	1.27	0.36146	T	-1.52	0.36980	N	0.115	0.10340	-1.0103	0.26823	T	0.059	0.24612	T	6	0.010598272	0.00235	T	0.61576	0.96659	D	0.006	0.00375	.	.	.	.	0.3528594988450647	0.35199	.	.	0.469817906618	0.34654	T	0.027912	0.20337	T	-0.647227	0.00075	T	-0.681523	0.06892	T	0.0048122386009227	0.00052	T	.	.	.	0.14141984	0.32587	0.09772348	0.23272	0.14141984	0.32587	0.09772348	0.23272	-4.882	0.35532	T	.	.	0.103	0.18289	B	.	.	1.167062	0.15563	11.94	0.77060859291050832	0.11720	0.00158	0.00946	N	AEFI	0.056197	0.10370	N	-1.05393109875019	0.07510	0.3491371	-1.21576128511754	0.05656	0.2701088	1.10942770519523E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	1.018000	0.29604	-0.444000	0.09141	0.207000	0.17954	0.790000	0.29595	0.000000	0.08366	0.007000	0.07825	.	.	.	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	1	0	0	0	0.02778	94.14	25	chr7	144267434	.	C	T	94.14	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.390e-01;DP=337;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0296;MLEAC=1;MLEAF=0.028;MQ=36.68;MQRankSum=1.49;QD=4.71;ReadPosRankSum=-8.040e-01;SOR=0.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,4:20:99:0|1:144267434_C_T:107,0,660:144267434	17	0	1	3
chr7	144267438	144267438	G	A	exonic	CTAGE4;CTAGE8	.	nonsynonymous SNV	CTAGE8:NM_001278507:exon1:c.C1813T:p.R605C	.	.	589	918	14	1	0	16	0.00863931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.011	B	0.008	B	.	.	1.000	N	.	.	0.92	T	-1.046	T	0.054	T	0.076	-1.347	0.029	.	-1.351	-0.095	.	0.032	0.602398931527	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1285785368	0.0035	0.0084	0.0033	0.0037	0.0049	0.0034	0.0033	0.0045	0.0043	0.0013	0.0045	0.0059	0.0012	0.0077	0.0033	0.0032	0.0042	0.0049	0.0092	0.0086	0.0086	0.0099	0.0129	0.0085	0.0082	0.0118	0.0113	0.0038	0	0.0035	0.0118	0	0.0171	0	0.0129	0.0042	0.0052	0.128	0.26965	T	0.097	0.39190	T	0.011	0.15914	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	0.58	0.15352	N	0.92	0.44461	T	-3.58	0.69118	D	0.049	0.02088	-1.0461	0.15505	T	0.054	0.23034	T	6	0.0131985545	0.00281	T	0.602399	0.96503	D	0.032	0.07718	.	.	.	.	0.32214072768845226	0.32127	.	.	0.462245970964	0.33619	T	0.144367	0.48095	T	-0.660256	0.00063	T	-0.695426	0.06079	T	0.00557284860081136	0.00061	T	.	.	.	0.06297486	0.13212	0.110203415	0.26570	0.06297486	0.13212	0.110203415	0.26569	-8.692	0.65693	D	.	.	0.100	0.17317	B	.	.	0.458262	0.08281	5.026	0.58528631597236658	0.06014	0.00098	0.00638	N	AEFI	0.042510	0.06605	N	-1.52366014602917	0.01695	0.07417858	-1.67080265389584	0.01272	0.05735384	3.98302209556076E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	0.330000	0.19460	-0.070000	0.12310	-2.425000	0.00287	0.071000	0.22100	0.000000	0.08366	0.003000	0.05239	.	.	.	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	1	0	0	0	0.02778	65.14	24	chr7	144267438	.	G	A	65.14	.	AC=1;AF=0.028;AN=36;BaseQRankSum=3.54;DP=312;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0297;MLEAC=1;MLEAF=0.028;MQ=35.95;MQRankSum=1.32;QD=3.43;ReadPosRankSum=-1.680e-01;SOR=0.054	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,3:19:78:0|1:144267434_C_T:78,0,663:144267434	17	0	1	3
chr7	149104336	149104336	C	A	exonic	ZNF425	.	nonsynonymous SNV	ZNF425:NM_001001661:exon4:c.G1535T:p.R512L,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.323	B	0.082	B	.	.	1.000	N	-0.095	N	2.51	T	-0.942	T	0.013	T	0.222	1.994	12.62	1.14	0.142	-0.872	5.574	0.019	0.000863631526452	.	.	1.698e-05	0	0	0	0	1.553e-05	0.0011	0	1.94e-05	3	154602	rs199919803	5.476e-06	5.472e-06	5.449e-06	5.504e-06	0.0003	2.36e-06	1.7e-06	6.094e-05	2.522e-05	0	2.238e-05	0	0	0	0.0003	3.597e-06	0	1.16e-05	1.972e-05	1.97e-05	1.285e-05	2.692e-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	0.351	0.12265	T	0.303	0.20164	T	0.323	0.33082	B	0.082	0.29098	B	.	.	.	.	1	0.08975	N	0.33	0.10399	N	2.51	0.14284	T	-2.71	0.57762	D	0.191	0.20925	-0.9420	0.42298	T	0.013	0.05177	T	9	0.13567474	0.25816	T	8.64E-4	0.00755	T	0.019	0.03383	0.459	0.52590	0.235038932564	0.23097	0.06565034963417109	0.06504	0.479768631312	0.47003	0.356571018696	0.18885	T	0.179818	0.53095	T	-0.363297	0.03947	T	-0.676762	0.07183	T	0.077255615001167	0.09632	T	0.89741	0.64114	D	0.06591472	0.14134	0.07766953	0.17324	0.06591472	0.14134	0.07766953	0.17324	-4.097	0.25246	T	.	.	0.700	0.72939	P	.	.	1.216985	0.16105	12.32	0.98765404801802459	0.45878	0.05297	0.11143	N	AEFDBI	0.073089	0.14607	N	-1.2438430441216	0.04381	0.1976126	-1.27795607254489	0.04729	0.2237747	5.54635003629234E-4	0.07304	0.775728	0.99543	0	0.588066	0.40923	0	0.663124	0.60104	0	0.567892	0.33627	0	.	.	3.08	1.14	0.19817	-2.207000	0.01314	.	.	-0.217000	0.08171	0.000000	0.06391	.	.	0.156000	0.20513	0.0:0.6703:0.2051:0.1247	5.574	0.16496	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2026.98	81	chr7	149104336	.	C	A	2026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.90;DP=1845;ExcessHet=0.0000;FS=0.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.070;SOR=0.787	GT:AD:DP:GQ:PL	0/1:99,77:176:99:2041,0,2244	20	0	1	0
chr7	150628284	150628284	G	A	exonic	GIMAP6	.	nonsynonymous SNV	GIMAP6:NM_001244072:exon3:c.C524T:p.S175L	.	.	429	1077	16	0	0	16	0.00737327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.002	B	0.001	B	0.487	N	1.000	N	1.3	L	3.3	T	-0.945	T	0.013	T	0.198	0.807	8.240	-5.38	-1.157	-1.542	0.436	0.034	0.00119476482801	0.0028	0.00199681	0.0028	0.0002	0.0020	0.0001	0.0003	0.0039	0.0044	0.0030	0.0025873	400	154602	rs62000976	0.0027	0.0027	0.0025	0.0028	0.0080	0.0026	0.0026	0.0061	0.0055	0.0003	0.0019	0.0173	5.038e-05	0.0004	0.0080	0.0024	0.0042	0.0045	0.0021	0.0021	0.0021	0.0021	0.0043	0.0019	0.0018	0.0029	0.0024	0.0003	0	0.0021	0.0167	0.0002	9.409e-05	0.0034	0.0027	0.0052	0.0043	0.315	0.13789	T	0.359	0.17014	T	0.001	0.07471	B	0.001	0.04355	B	0.487066	0.05014	N	1.288440	1	0.08975	N	.	.	.	3.3	0.06368	T	-2.09	0.47683	N	0.087	0.07811	-0.9454	0.41748	T	0.013	0.04938	T	10	0.004221022	0.00084	T	0.001195	0.01533	T	0.034	0.08419	.	.	0.0611884634855	0.05136	0.3451362345028697	0.34427	0.117263545329	0.13215	0.328480452299	0.14704	T	0.009735	0.08845	T	-0.670216	0.00055	T	-0.736334	0.04046	T	0.00652228570760141	0.00073	T	0.455554	0.13039	T	0.03513331	0.04077	0.037139736	0.03303	0.03513331	0.04077	0.037139736	0.03302	-5.271	0.39655	T	.	.	0.116	0.23255	B	.;.	.;.	0.514320	0.08831	5.610	0.82393646908283369	0.14169	0.05186	0.11007	N	AEFDBCI	0.041459	0.06306	N	-1.61730858794063	0.01181	0.05132128	-1.72623328276491	0.01026	0.04602682	0.999998970312576	0.74766	0.67177	0.52595	0	0.685571	0.66316	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	4.07	-5.38	0.02465	-1.937000	0.01639	-1.581000	0.05125	-1.673000	0.00797	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2514:0.2039:0.3132:0.2315	0.436	0.00447	856	0.34373	AIG1-type guanine nucleotide-binding (G) domain|AIG1-type guanine nucleotide-binding (G) domain;AIG1-type guanine nucleotide-binding (G) domain|AIG1-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	1	0	0	0	0.02381	2260.98	37	chr7	150628284	.	G	A	2260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=911;ExcessHet=0.0000;FS=9.546;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=1.14;SOR=1.135	GT:AD:DP:GQ:PL	0/1:76,81:157:99:2275,0,1895	20	0	1	0
chr7	150628640	150628640	C	G	exonic	GIMAP6	.	nonsynonymous SNV	GIMAP6:NM_001244072:exon3:c.G168C:p.Q56H,	.	.	435	1066	21	0	0	21	0.00975383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.285	U	1.000	N	.	.	.	.	-0.984	T	0.074	T	0.075	-0.024	3.891	0.78	0.194	0.202	3.468	0.025	.	.	0.00119808	0.0039	0.0005	0.0022	0	0.0004	0.0063	0.0048	0.0016	0.0026455	409	154602	rs148793735	0.0044	0.0043	0.0045	0.0043	0.0052	0.0043	0.0043	0.0051	0.0050	0.0007	0.0021	0.0011	0	0.0007	0.0010	0.0052	0.0038	0.0017	0.0030	0.0031	0.0033	0.0027	0.0056	0.0028	0.0027	0.0052	0.0050	0.0006	0	0.0025	0.0006	0	0	0.0034	0.0056	0.0009	0.0021	.	.	.	0.126	0.35205	T	.	.	.	.	.	.	0.284752	0.03856	U	2.780850	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.124	0.11626	-0.9842	0.34022	T	0.074	0.29928	T	6	0.0043741465	0.00089	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.20887290885808846	0.20803	.	.	0.261247158051	0.05040	T	.	.	.	-0.462762	0.00945	T	-0.435445	0.29319	T	0.00832272029620834	0.00100	T	0.310869	0.06046	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.31931	B	.	.	0.678230	0.10466	7.185	0.43036293542867998	0.03212	0.04629	0.10294	N	AEFBCI	.	.	.	-0.759156796233761	0.14386	0.7161691	-0.948038266060922	0.10969	0.5559042	0.999612253785756	0.40981	0.096616	0.02514	0	0.100175	0.03081	0	0.063197	0.01477	0	0.089868	0.02511	0	0.131693	0.25914	2.76	0.78	0.17701	0.888000	0.27904	0.322000	0.17195	-0.250000	0.07158	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.2758:0.5809:0.0:0.1433	3.468	0.07122	856	0.34373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1084.98	37	chr7	150628640	.	C	G	1084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.988e+00;DP=822;ExcessHet=0.0000;FS=3.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.86;ReadPosRankSum=1.13;SOR=0.869	GT:AD:DP:GQ:PL	0/1:32,41:73:99:1099,0,906	20	0	1	0
chr7	151041210	151041210	A	G	exonic	ABCB8	.	nonsynonymous SNV	ABCB8:NM_001282293:exon12:c.A1331G:p.Q444R	.	.	398	1119	5	0	0	5	0.00222916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.02	B	0.034	B	0.000	D	1.000	D	0.45	N	-3.24	D	-0.112	T	0.586	D	0.24	2.199	13.31	4.45	1.642	6.135	11.694	0.325	0.121303444569	.	.	8.63e-06	0	0	0	0	0	0	6.364e-05	6.5e-06	1	154602	rs755329372	3.443e-06	4.788e-06	1.371e-06	5.535e-06	0.0002	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.7e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.15717	T	0.433	0.21478	T	0.016	0.18235	B	0.02	0.22546	B	0.000093	0.51296	D	0.134289	0.998552	0.81001	D	0.16	0.08945	N	-3.24	0.93474	D	-0.4	0.15782	N	0.425	0.47487	-0.1115	0.79833	T	0.586	0.85162	D	10	0.28391004	0.45972	T	0.121303	0.80204	D	0.325	0.64725	0.681	0.81885	0.960022966362	0.95960	0.8700637899104202	0.86971	0.238368492599	0.26382	0.396692574024	0.24609	T	0.235143	0.60233	T	-0.013103	0.49829	T	-0.155968	0.58714	T	0.590879440307617	0.36041	D	0.820118	0.47860	T	0.13971014	0.32263	0.09655981	0.22948	0.13971014	0.32262	0.09655981	0.22947	-5.465	0.42865	T	.	.	0.080	0.07985	B	.;.;.;.	.;.;.;.	2.862300	0.37822	20.6	0.98575612897712217	0.43167	0.93328	0.57923	D	AEFDBCI	0.794428	0.72214	D	-0.216529859741463	0.32454	1.83054	-0.0257380389385111	0.38557	2.273258	0.99999969999379	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.45	4.45	0.53365	6.136000	0.71452	9.356000	0.80337	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.693000	0.33928	1.0:0.0:0.0:0.0	11.694	0.50796	929	0.16858	.;.;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	927.98	34	chr7	151041210	.	A	G	927.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.350e-01;DP=796;ExcessHet=0.0000;FS=0.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=-5.660e-01;SOR=0.828	GT:AD:DP:GQ:PL	0/1:32,37:69:99:942,0,782	20	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H,	.	YES	526	320	669	7	0	683	0.516251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	U	1.000	D	2.11	M	-2.28	D	0.656	D	0.754	D	0.82	3.081	16.29	4.67	1.866	9.283	14.405	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	21206.9	371	chr7	152229940	.	A	G	21206.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-6.890e-01;DP=6803;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=44.68;MQRankSum=0.452;QD=3.93;ReadPosRankSum=0.208;SOR=0.720	GT:AD:DP:GQ:PL	0/1:235,83:318:99:1307,0,8389	4	0	17	0
chr7	152248171	152248171	G	A	exonic	KMT2C	.	stopgain	KMT2C:NM_170606:exon14:c.C2263T:p.Q755X,	.	.	418	977	127	0	0	127	0.0610284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.507	N	1.000	N	.	.	.	.	.	.	.	.	.	6.978	38	2.44	0.630	0.436	1.678	.	.	.	.	0.0416	0.1069	0.0224	0.0563	0.0442	0.0281	0.0509	0.0646	0.0003458	9	26028	rs201234598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507052	0.05125	N	1.373010	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.772	0.76946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207808	0.74625	D	0.0607255	0.74294	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	6.010711	0.94333	34	0.99557216609082289	0.71521	0.06104	0.12080	N	AEFGBI	0.041531	0.06327	N	0.101422309534251	0.46529	2.891879	-0.202886129060462	0.31431	1.778824	0.384391544153175	0.19989	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.53	2.44	0.28875	0.459000	0.21619	2.861000	0.35203	0.676000	0.76740	0.094000	0.22667	0.999000	0.35428	0.188000	0.21541	0.1392:0.2962:0.2939:0.2707	1.678	0.02655	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.125	797.32	165	chr7	152248171	.	G	A	797.32	.	AC=5;AF=0.125;AN=40;BaseQRankSum=5.98;DP=2497;ExcessHet=1.1607;FS=41.174;InbreedingCoeff=-0.1528;MLEAC=5;MLEAF=0.125;MQ=48.99;MQRankSum=-6.374e+00;QD=0.93;ReadPosRankSum=0.070;SOR=8.357	GT:AD:DP:GQ:PL	0/1:181,18:199:99:166,0,5371	15	0	5	1
chr7	152265205	152265205	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon8:c.G1017C:p.K339N,	.	.	421	1051	50	0	0	50	0.0232342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.999	D	0.991	D	0.001	U	1.000	D	1.04	L	-5.16	D	0.881	D	0.928	D	0.158	0.401	6.180	3.77	1.072	1.789	11.249	0.572	.	.	.	0.0021	0.0111	0.0007	0.0018	0.0005	0.0010	0	0.0035	0.0006147	16	26028	rs775803041	5.981e-05	0.0076	4.535e-05	7.442e-05	0.0003	4.937e-05	4.544e-05	0.0002	0.0001	0.0003	9.457e-05	4.025e-05	0.0002	3.892e-05	0	3.535e-05	5.168e-05	0.0002	3.333e-05	0.0021	1.302e-05	5.465e-05	0.0002	1.275e-05	8.08e-06	8.19e-06	3.07e-06	4.945e-05	0	0	0	0	0	0	1.482e-05	0.0005	0.0002	0.246	0.17353	T	.	.	.	0.999	0.77913	D	0.991	0.79672	D	0.000576	0.43250	U	0.000000	0.938391	0.37224	D	1.445	0.36358	L	-5.16	0.98796	D	-2.17	0.49018	N	0.586	0.60664	0.881	0.95424	D	0.928	0.97621	D	10	0.022789448	0.00578	T	.	.	.	0.572	0.82629	0.4	0.42917	0.863302321749	0.86197	0.9070440576430164	0.90677	3.14057088863	0.99419	0.771010279655	0.77576	T	0.079823	0.36220	T	0.0848077	0.62599	D	-0.115956	0.62133	T	0.085914246737957	0.10725	T	0.856014	0.54441	D	0.14069383	0.32450	0.13352853	0.32017	0.14069383	0.32450	0.13352853	0.32016	-7.908	0.60442	D	0.7078248139639416	0.78764	0.700	0.72955	P	.;.	.;.	4.007063	0.59081	24.1	0.98560692262797078	0.42973	0.86679	0.46011	D	AEFDGI	0.317148	0.42122	N	-0.0667300470696601	0.38857	2.282421	-0.115006256874915	0.34785	2.004846	0.502645286987131	0.20955	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.74596	0.99574	0	.	.	4.65	3.77	0.42499	1.960000	0.40046	3.951000	0.40674	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.8451:0.0:0.1549	11.249	0.48247	952	0.10565	.;.	.	.	.	.	.	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	0.09524	518.92	323	chr7	152265205	.	C	G	518.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.361e+00;DP=4176;ExcessHet=0.6776;FS=2.065;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=46.72;MQRankSum=-4.333e+00;QD=0.48;ReadPosRankSum=-1.062e+00;SOR=1.120	GT:AD:DP:GQ:PL	0/1:230,28:258:82:82,0,6256	17	0	4	0
chr8	2001555	2001563	GGAGCCCGG	-	exonic	KBTBD11	.	nonframeshift deletion	KBTBD11:NM_014867:exon2:c.363_371del:p.G124_P126del,	.	.	425	1085	12	0	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0	0.0179	0	.	0.0110	0	0.0016	0.0002305	6	26028	rs757999930	0.0027	0.0025	0.0027	0.0027	0.0098	0.0026	0.0026	0.0073	0.0064	0.0023	0.0020	0.0103	7.232e-05	0.0009	0.0098	0.0028	0.0030	0.0013	0.0031	0.0031	0.0034	0.0027	0.0040	0.0029	0.0028	0.0036	0.0034	0.0022	0.0044	0.0031	0.0104	0	0.0002	0.0070	0.0040	0.0033	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	374.94	16	chr8	2001554	.	AGGAGCCCGG	A	374.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.150e-01;DP=452;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.06;ReadPosRankSum=-2.148e+00;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,10:17:99:389,0,264	20	0	1	0
chr8	2942602	2942602	G	C	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon69:c.C10405G:p.P3469A,	.	.	430	1091	1	0	0	1	0.000458085	.	.	3211719	CSMD1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.8	T	0.029	B	0.017	B	0.000	D	1.000	D	0.69	N	2.02	T	-1.046	T	0.120	T	0.234	-1.591	0.014	3.85	0.713	2.847	9.998	0.030	.	.	0.00638978	0.0061	0	0.0010	0.0004	0	4.676e-05	0	0.0278	0.0025355	392	154602	rs375524577	0.0014	0.0014	0.0008	0.0020	0.0222	0.0013	0.0013	0.0213	0.0209	6.238e-05	0.0001	0	0	0	0.0012	7.358e-06	0.0018	0.0222	0.0008	0.0008	0.0005	0.0011	0.0243	0.0007	0.0006	0.0207	0.0193	7.218e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0243	0.091	0.31834	T	0.608	0.07868	T	0.002	0.09854	B	0.002	0.06944	B	0.000190	0.48115	D	0.139850	0.959878	0.38150	D	.	.	.	1.86	0.24285	T	-0.98	0.28084	N	0.156	0.21319	-1.0465	0.15389	T	0.120	0.41929	T	10	0.0034969747	0.00062	T	.	.	.	0.037	0.09474	0.245	0.17984	0.407082143382	0.40323	0.1865742852426868	0.18575	.	.	0.325103998184	0.14194	T	0.00998	0.09046	T	-0.532906	0.00369	T	-0.520674	0.20226	T	0.0188305011466002	0.00594	T	0.680232	0.32156	T	0.062274452	0.12988	0.06951153	0.14654	0.05215523	0.09685	0.065387346	0.13245	-5.089	0.37791	T	.	.	0.066	0.02313	B	.;.;.;.;.;.	.;.;.;.;.;.	0.593794	0.09625	6.396	0.094857302421033754	0.00098	0.96150	0.67762	D	AEFI	0.555381	0.56584	D	0.188926006236915	0.50666	3.254606	0.128581364054178	0.46016	2.854747	0.00166976793935536	0.08760	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.67	3.85	0.43556	3.166000	0.50485	2.647000	0.33790	0.660000	0.55035	1.000000	0.71638	0.999000	0.35428	0.016000	0.10718	0.0685:0.263:0.6685:0.0	9.998	0.41085	915	0.20917	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	558.98	40	chr8	2942602	.	G	C	558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.458;DP=771;ExcessHet=0.0000;FS=4.436;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-1.066e+00;SOR=0.230	GT:AD:DP:GQ:PL	0/1:28,22:50:99:573,0,785	20	0	1	0
chr8	6439052	6439052	G	A	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172574:exon6:c.G536A:p.R179K	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.994	D	0.000	D	1.000	D	2.74	M	2.86	T	-0.969	T	0.124	T	0.429	3.285	17.03	5.5	2.741	5.964	17.264	0.181	0.0225692198484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999719	0.81001	D	2.585	0.75554	M	2.86	0.13434	T	-1.66	0.44657	N	0.646	0.76481	-0.9685	0.37510	T	0.124	0.42799	T	10	0.60396415	0.67069	D	0.022569	0.45471	T	0.181	0.45247	0.232	0.16005	0.669386746705	0.66659	0.4669121289294924	0.46610	.	.	0.407298445702	0.26083	T	0.346928	0.71512	T	-0.0843929	0.38997	T	-0.359001	0.38168	T	0.93335622549057	0.60005	D	.	.	.	0.45933947	0.64629	0.41183105	0.65403	0.45933947	0.64630	0.41183105	0.65403	-9.541	0.71114	D	.	.	0.236	0.46983	B	.;.	.;.	4.240921	0.64293	24.7	0.99465292039328934	0.66049	0.95370	0.64455	D	AEFBI	0.490283	0.52783	N	0.648766155877296	0.76290	6.459061	0.540307966424217	0.70725	5.547713	0.999999998757797	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.5	5.5	0.81386	6.422000	0.73266	9.541000	0.80962	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	17.264	0.86967	975	0.05339	.;.	.	.	.	.	.	Uncertain significance	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	103.68	67	chr8	6439052	.	G	A	103.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.700e+00;DP=1145;ExcessHet=0.3300;FS=99.365;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=0.848;SOR=7.168	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,8:65:32:.:.:32,0,1930	18	0	3	0
chr8	7358313	7358313	C	G	exonic	ZNF705G	.	nonsynonymous SNV	ZNF705G:NM_001164457:exon7:c.G566C:p.R189P,	.	.	510	986	26	0	0	26	0.013013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	.	.	.	.	.	.	1.000	N	3.01	M	3.18	T	-1.052	T	0.044	T	0.264	0.977	8.986	0.109	0.042	-4.766	5.282	0.077	0.000308078436627	0.0002	0.000798722	0.0022	0.0001	0.0007	0.0001	0	0.0017	0	0.0084	0.0017788	275	154602	rs368734373	0.0012	0.0013	0.0009	0.0015	0.0126	0.0012	0.0011	0.0099	0.0089	0.0003	0.0007	0.0137	2.52e-05	0	0.0126	0.0005	0.0022	0.0077	0.0010	0.0011	0.0010	0.0011	0.0057	0.0009	0.0008	0.0040	0.0034	0.0001	0	0.0004	0.0139	0	0	0.0172	0.0009	0.0014	0.0057	0.041	0.41915	D	0.102	0.38450	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.49	0.72568	M	3.18	0.07478	T	-3.35	0.66436	D	0.267	0.30233	-1.0523	0.13763	T	0.044	0.19029	T	7	0.016572624	0.00350	T	3.08E-4	0.00027	T	0.077	0.22490	.	.	0.194818534648	0.19098	0.0716437379401887	0.07101	8.38689937476E-4	0.00070	0.519137859344	0.41504	T	0.102249	0.40979	T	-0.599116	0.00148	T	-0.62908	0.10484	T	0.0398025031288163	0.03654	T	0.0150385	0.00084	T	0.52510643	0.68552	0.44012263	0.67341	0.52510643	0.68553	0.44012263	0.67341	-8.71	0.65811	D	.	.	0.907	0.83217	P	.	.	2.121769	0.27008	17.32	0.9403768728901275	0.24156	0.00620	0.02740	N	AEFDBI	0.118989	0.23244	N	-0.752658196188609	0.14560	0.7263734	-1.03829226174489	0.08952	0.4427836	1.78956100016098E-6	0.01202	0.487112	0.14033	0	0.48864	0.07623	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.05	0.109	0.13884	-4.227000	0.00308	-20.000000	0.00162	0.233000	0.18164	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.774:0.0:0.226	5.282	0.14991	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	6807.11	45	chr8	7358313	.	C	G	6807.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.970;DP=2065;ExcessHet=0.1072;FS=0.551;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.88;MQRankSum=0.744;QD=7.58;ReadPosRankSum=1.38;SOR=0.785	GT:AD:DP:GQ:PL	0/1:293,141:434:99:2954,0,7598	19	0	2	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	0/2:34,0,35:69:99:1368,1470,2888,0,1417,1312	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	0/2:34,0,35:69:99:1368,1470,2888,0,1417,1312	7	0	1	0
chr8	9556063	9556063	G	C	exonic	TNKS	.	nonsynonymous SNV	TNKS:NM_003747:exon1:c.G124C:p.G42R,	.	.	401	1119	2	0	0	2	0.000892857	.	.	2373989	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.232	B	0.103	B	0.001	N	1.000	D	0.55	N	0.13	T	-0.941	T	0.131	T	0.442	3.818	19.39	4.84	2.667	1.581	16.252	0.064	0.152161887745	.	.	0.0001	0	9.089e-05	0	0	5.24e-05	0	0.0005	9.06e-05	14	154602	rs754746323	9.339e-05	9.303e-05	8.334e-05	0.0001	0.0011	8.056e-05	7.547e-05	0.0005	0.0005	0	0.0002	3.868e-05	5.045e-05	0	0.0011	5.133e-05	0.0001	0.0006	0.0001	0.0001	6.427e-05	0.0001	0.0010	6.508e-05	5.32e-05	0.0004	0.0003	0	0	0.0001	0	0.0002	0	0.0034	0.0001	0	0.0010	0.051	0.91255	T	0.07	0.43721	T	0.077	0.30664	B	0.093	0.30945	B	0.001124	0.40136	N	0.101814	0.99698	0.43549	D	0	0.06538	N	0.1	0.61326	T	-0.31	0.12099	N	0.468	0.54584	-0.9406	0.42521	T	0.131	0.44248	T	10	0.07780698	0.12323	T	0.152162	0.83362	D	0.064	0.18567	0.247	0.18293	0.302481332339	0.29867	0.15953209109605399	0.15874	0.447635886102	0.44616	0.894666790962	0.95828	D	0.29368	0.66638	T	-0.172697	0.24828	T	-0.134125	0.60623	T	0.110118848425151	0.13436	T	0.831017	0.49766	T	0.16243571	0.36319	0.30724406	0.56746	0.16243571	0.36319	0.30724406	0.56745	-5.409	0.41006	T	.	.	0.344	0.56191	A	.;.;.	.;.;.	4.546835	0.71521	25.7	0.9975275427680208	0.84382	0.73355	0.35883	D	ALL	0.196088	0.32308	N	-0.0607858490694378	0.39122	2.302053	0.112905291979218	0.45207	2.788057	1.0	0.98316	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.84	4.84	0.62125	2.055000	0.40971	9.106000	0.78790	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	16.252	0.82316	574	0.70151	.;.;.	.	.	.	.	.	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	785.98	33	chr8	9556063	.	G	C	785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=807;ExcessHet=0.0000;FS=3.023;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=0.260;SOR=0.657	GT:AD:DP:GQ:PL	0/1:47,32:79:99:800,0,1169	20	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|1:175,53:228:99:0|1:10609943_C_T:1235,0,6812:10609943	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|1:176,55,0:231:99:0|1:10609943_C_T:1265,0,6809,1794,6974,8768:10609943	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|1:176,55,0:231:99:0|1:10609943_C_T:1265,0,6809,1794,6974,8768:10609943	0	0	15	4
chr8	10622865	10622865	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon2:c.C337T:p.P113S,	Occult macular dystrophy, Autosomal dominant	.	1	1498	23	0	0	23	0.00761842	.	.	303921	not_provided|Occult_macular_dystrophy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.073	B	0.045	B	.	.	1.000	N	-0.205	N	-2.17	D	-0.820	T	0.286	T	0.127	0.292	5.580	-3.47	-0.664	-0.189	3.123	0.144	.	0.0002	0.00399361	0.0026	0.0001	0.0005	0	0	0.0004	0.0081	0.0157	0.0021863	338	154602	rs201245739	0.0012	0.0012	0.0007	0.0017	0.0163	0.0011	0.0011	0.0156	0.0153	5.977e-05	0.0001	0.0011	2.52e-05	0	0.0042	0.0002	0.0013	0.0163	0.0007	0.0007	0.0006	0.0008	0.0145	0.0006	0.0006	0.0118	0.0108	7.22e-05	0	0.0005	0.0014	0	0	0	0.0003	0.0019	0.0145	0.143	0.25355	T	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.255	0.03828	N	-2.17	0.86624	D	-2.1	0.47852	N	0.183	0.19861	-0.8200	0.53933	T	0.286	0.65744	T	9	0.00442034	0.00090	T	.	.	.	0.144	0.38394	.	.	0.254244900254	0.25046	0.18994679781171653	0.18912	.	.	0.310086578131	0.11920	T	0.136786	0.46936	T	-0.470472	0.00844	T	-0.435603	0.29302	T	0.0063750555654631	0.00071	T	0.624238	0.24084	T	0.03854926	0.05157	0.071921706	0.15456	0.03854926	0.05156	0.071921706	0.15456	-3.485	0.16223	T	0.14979248067906134	0.17545	0.091	0.12891	B	.	.	0.676226	0.10444	7.166	0.49772977628815207	0.04268	0.05439	0.11314	N	AEFDBI	0.081127	0.16412	N	-1.17843439872053	0.05326	0.2425605	-1.22491323184172	0.05512	0.262831	0.0171898468307943	0.12922	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.74	-3.47	0.04452	-0.236000	0.09019	1.009000	0.23318	0.674000	0.70861	0.000000	0.06391	0.097000	0.22620	0.104000	0.18471	0.4664:0.103:0.3164:0.1143	3.123	0.06012	778	0.48011	Doublecortin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.07143	3412.68	38	chr8	10622865	.	G	A	3412.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.94;DP=910;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=-2.280e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/1:29,37:66:99:1099,0,778	18	0	3	0
chr8	10765414	10765416	TTC	-	exonic	PINX1	.	nonframeshift deletion	PINX1:NM_017884:exon7:c.972_974del:p.K325del,	.	.	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0100	0.00778754	0.0026	0.0229	0.0007	0.0001	0	0.0007	0	0.0020	0.0001153	3	26028	rs201660183	0.0007	0.0009	0.0007	0.0006	0.0166	0.0006	0.0006	0.0155	0.0150	0.0166	0.0009	7.745e-05	0.0001	0.0001	0.0010	0.0002	0.0011	0.0006	0.0048	0.0048	0.0048	0.0048	0.0163	0.0045	0.0044	0.0153	0.0149	0.0163	0	0.0016	0.0003	0.0002	0	0.0034	0.0003	0.0033	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1663.94	33	chr8	10765413	.	TTTC	T	1663.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.33;DP=784;ExcessHet=0.0000;FS=1.696;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.70;ReadPosRankSum=0.442;SOR=0.925	GT:AD:DP:GQ:PL	0/1:50,44:94:99:1678,0,1964	20	0	1	0
chr8	17311576	17311576	C	T	exonic	MTMR7	.	nonsynonymous SNV	MTMR7:NM_004686:exon9:c.G1036A:p.A346T,	.	.	431	1078	13	0	0	13	0.00599355	.	.	3198866	MTMR7-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.975	D	0.000	D	1.000	D	1.31	L	-2.64	D	0.703	D	0.786	D	0.747	4.703	26.1	4.86	2.697	4.661	18.554	0.657	0.0691894218408	0.0004	0.000998403	0.0007	0	0.0003	0	0	0.0003	0.0022	0.0034	0.0005563	86	154602	rs140535945	0.0004	0.0004	0.0003	0.0005	0.0036	0.0003	0.0003	0.0033	0.0032	0	0.0002	0	2.519e-05	0	0.0014	0.0002	0.0004	0.0036	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0024	0.0020	9.626e-05	0	0.0006	0	0	0	0	0.0002	0.0005	0.0037	0.002	0.72154	D	0.006	0.72224	D	0.999	0.77913	D	0.975	0.73362	D	0.000000	0.84330	D	0.051359	1	0.81001	D	2.635	0.77114	M	-2.64	0.90147	D	-3.09	0.64246	D	0.741	0.74098	0.703	0.93210	D	0.786	0.92733	D	10	0.028658718	0.00996	T	0.069189	0.70662	D	0.657	0.87135	.	.	0.966092822729	0.96572	0.5228822262849222	0.52211	0.158344896958	0.17885	0.749525487423	0.74377	T	0.739206	0.92762	D	-0.0555893	0.43593	T	0.147229	0.80008	D	0.112328002724829	0.13664	T	0.855414	0.54290	D	0.5988728	0.72631	0.6494683	0.79495	0.5988728	0.72632	0.6494683	0.79495	-8.91	0.67116	D	.	.	0.246	0.48061	B	.;.	.;.	4.839918	0.79009	27.0	0.99925048421737517	0.99042	0.88222	0.48054	D	AEFCI	0.507482	0.53776	D	0.504975252794877	0.67383	5.074393	0.460317654810571	0.65382	4.816741	0.99799569922637	0.36288	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.664235	0.64389	0	.	.	4.86	4.86	0.62624	4.882000	0.62813	4.860000	0.45461	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.821000	0.38685	0.0:1.0:0.0:0.0	18.554	0.91028	939	0.14249	Myotubularin-like phosphatase domain|Tyrosine specific protein phosphatases domain|Myotubularin-like phosphatase domain|Protein-tyrosine phosphatase, catalytic;.	.	.	.	.	.	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	3680.98	34	chr8	17311576	.	C	T	3680.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.242;DP=986;ExcessHet=0.0000;FS=0.955;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=-1.899e+00;SOR=0.780	GT:AD:DP:GQ:PL	0/1:117,142:259:99:3695,0,2785	20	0	1	0
chr8	28716532	28716532	G	A	exonic	EXTL3	.	nonsynonymous SNV	EXTL3:NM_001440:exon3:c.G473A:p.R158Q,	.	YES	416	1099	7	0	0	7	0.0031746	.	.	1118523	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.871	P	0.097	B	0.000	D	1.000	D	1.445	L	-3.7	D	0.513	D	0.731	D	0.699	3.270	16.97	5.02	2.348	9.624	18.403	0.585	0.341576427091	.	0.000998403	0.0006	0	0.0002	0	0	7.502e-05	0.0011	0.0036	0.0004722	73	154602	rs573052861	0.0003	0.0003	0.0002	0.0004	0.0038	0.0002	0.0002	0.0034	0.0033	0	4.472e-05	0	0	0	0.0007	3.417e-05	0.0003	0.0038	0.0002	0.0002	0.0001	0.0002	0.0039	0.0001	0.0001	0.0026	0.0021	2.406e-05	0	0	0	0.0002	0	0	8.822e-05	0	0.0039	0.121	0.27783	T	0.603	0.07868	T	0.871	0.47859	P	0.097	0.30390	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.895	0.22405	L	-3.7	0.95352	D	-0.79	0.21860	N	0.801	0.79696	0.513	0.90723	D	0.731	0.90780	D	9	0.03950128	0.02445	T	0.341576	0.92029	D	0.585	0.83360	.	.	0.951535142876	0.95102	0.6907624148698749	0.69016	0.415449105728	0.42203	0.706462025642	0.68080	T	0.213033	0.57424	T	-0.0347328	0.46727	T	0.174596	0.81680	D	0.0615618673074429	0.07412	T	0.979802	0.93081	D	0.17576112	0.38452	0.14381711	0.34165	0.17576112	0.38452	0.14381711	0.34164	-2.861	0.08759	T	0.13000684969041673	0.13634	0.161	0.35622	B	.	.	3.173661	0.43051	21.7	0.99832872717281562	0.91456	0.99626	0.98117	D	AEFBI	0.922297	0.89707	D	0.360604662325935	0.59301	4.10846	0.44156399724953	0.64176	4.666968	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	9.757000	0.98114	11.850000	0.98050	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0:0.0:1.0:0.0	18.403	0.90467	597	0.68309	.	.	.	.	.	.	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	0.02381	3011.98	36	chr8	28716532	.	G	A	3011.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=944;ExcessHet=0.0000;FS=1.046;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=0.441;SOR=0.808	GT:AD:DP:GQ:PL	0/1:109,109:218:99:3026,0,2705	20	0	1	0
chr8	37840193	37840193	A	G	exonic	ADGRA2	.	nonsynonymous SNV	ADGRA2:NM_032777:exon17:c.A2584G:p.K862E,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.15	M	0.96	T	-0.273	T	0.307	T	0.56	3.802	19.31	3.95	1.780	8.962	13.277	0.376	0.0488535391302	7.7e-05	0.000199681	2.499e-05	0	8.682e-05	0	0	3.037e-05	0	0	2.59e-05	4	154602	rs183489099	4.451e-05	4.446e-05	3.68e-05	5.23e-05	0.0007	3.579e-05	3.261e-05	0.0002	0.0002	0	0.0003	3.828e-05	0	0	0.0007	2.878e-05	0.0001	6.956e-05	7.882e-05	7.874e-05	6.428e-05	9.402e-05	0.0005	4.495e-05	3.511e-05	0.0002	0.0002	2.407e-05	0	0.0005	0	0	0	0.0034	1.471e-05	0.0009	0	0.002	0.72154	D	0.0	0.92824	D	0.99	0.90584	D	0.937	0.88582	D	0.000001	0.84330	D	0.054146	0.968704	0.58761	D	.	.	.	0.96	0.42888	T	-3.63	0.71519	D	0.849	0.84505	-0.2726	0.75741	T	0.307	0.67813	T	10	0.7192172	0.73549	D	0.048854	0.63557	D	0.376	0.69443	.	.	0.548145191872	0.54469	0.8620912698444394	0.86173	1.13689498608	0.78811	0.740391969681	0.73030	T	0.401151	0.75853	T	-0.183443	0.23226	T	-0.207792	0.53905	T	0.79077935218811	0.45741	D	0.891611	0.64770	D	0.81831884	0.85107	0.8191363	0.89483	0.81831884	0.85108	0.8191363	0.89483	-12.459	0.87015	D	.	.	0.635	0.70296	P	.;.	.;.	5.083086	0.84841	28.4	0.99811337233052977	0.89531	0.95866	0.66491	D	AEFDBCI	0.955198	0.97287	D	0.688612122798866	0.78885	6.962768	0.540967094332559	0.70769	5.554443	0.999999999991864	0.74766	0.695654	0.57023	0	0.550933	0.16991	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.95	3.95	0.44952	9.041000	0.93262	9.217000	0.79272	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	1.0:0.0:0.0:0.0	13.277	0.59627	794	0.45591	.;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1114.98	34	chr8	37840193	.	A	G	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.020e+00;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.07;ReadPosRankSum=-6.430e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/1:29,45:74:99:1129,0,744	20	0	1	0
chr8	39023298	39023298	G	A	exonic	ADAM9	.	nonsynonymous SNV	ADAM9:NM_003816:exon9:c.G887A:p.R296Q,	Cone-rod dystrophy 9	.	0	1487	34	1	0	36	0.0119601	.	.	700586	ADAM9-related_disorder|not_provided|Cone-rod_dystrophy_9	.|MedGen:C3661900|MONDO:MONDO:0013002,MedGen:C1423873,OMIM:612775,Orphanet:1872	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.19	B	0.104	B	0.000	D	1.000	D	0.79	N	-0.03	T	-0.949	T	0.156	T	0.363	2.628	14.75	4.94	1.468	5.303	14.455	0.077	.	0.0003	0.00299521	0.0016	9.614e-05	0	0	0	0.0002	0.0044	0.0108	0.0014359	222	154602	rs140082569	0.0008	0.0008	0.0005	0.0011	0.0106	0.0008	0.0008	0.0100	0.0098	8.963e-05	0.0001	0.0007	0	0	0.0062	0.0001	0.0009	0.0106	0.0004	0.0004	0.0003	0.0006	0.0075	0.0003	0.0003	0.0056	0.0049	9.653e-05	0	0.0001	0.0006	0.0004	0	0.0068	0.0002	0.0014	0.0075	0.215	0.19293	T	0.342	0.17910	T	0.19	0.29379	B	0.104	0.31021	B	0.000466	0.44119	D	0.222992	0.996547	0.43267	D	0.845	0.21182	L	-0.03	0.63077	T	-0.86	0.23372	N	0.269	0.30461	-0.9490	0.41143	T	0.156	0.48738	T	10	0.010584384	0.00235	T	.	.	.	0.077	0.22490	.	.	0.619369558668	0.61629	0.7875244783580344	0.78704	0.725681066863	0.62467	0.367673099041	0.20497	T	0.069037	0.33608	T	-0.361387	0.04053	T	-0.284065	0.46386	T	0.081637792289257	0.10196	T	0.892211	0.62852	D	0.15890746	0.35725	0.12609394	0.30372	0.15890746	0.35725	0.12609394	0.30371	-7.237	0.55746	T	0.21740283894345605	0.29260	0.099	0.16800	B	.	.	3.887764	0.56547	23.7	0.99678237190756069	0.79043	0.97884	0.77855	D	AEFBI	0.683345	0.64606	D	-0.0573578137192683	0.39275	2.313407	0.127578103551964	0.45966	2.850455	0.999999959626565	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.82	4.94	0.64645	4.607000	0.60840	3.905000	0.40374	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0698:0.0:0.9302:0.0	14.455	0.66986	661	0.61838	Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin|Reprolysin domain, adamalysin-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	602.98	41	chr8	39023298	.	G	A	602.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.767;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=0.203;SOR=0.602	GT:AD:DP:GQ:PL	0/1:30,25:55:99:617,0,771	20	0	1	0
chr8	47817561	47817561	C	T	exonic	PRKDC	.	nonsynonymous SNV	PRKDC:NM_001081640:exon68:c.G9446A:p.G3149D	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive	.	3	1451	65	3	0	71	0.0238816	.	.	457879	Malignant_tumor_of_breast|Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency|not_specified	MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0014423,MedGen:C4014833,OMIM:615966,Orphanet:317425|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.6	T	0.029	B	0.094	B	0.001	D	1.000	D	2.175	M	-0.4	T	-0.644	T	0.302	T	0.339	1.468	10.85	5.69	2.670	2.106	19.801	0.136	.	0.0036	0.00838658	0.0088	0.0056	0.0052	0	0	0.0055	0.0087	0.0272	0.0044631	690	154602	rs8178208	0.0037	0.0038	0.0031	0.0044	0.0248	0.0037	0.0036	0.0239	0.0235	0.0043	0.0030	0.0059	0.0001	5.729e-05	0.0210	0.0022	0.0053	0.0248	0.0039	0.0039	0.0037	0.0040	0.0251	0.0036	0.0035	0.0215	0.0201	0.0044	0	0.0026	0.0081	0.0002	9.446e-05	0.0136	0.0029	0.0066	0.0251	.	.	.	0.183	0.29153	T	0.029	0.19866	B	0.094	0.30180	B	0.000949	0.40932	D	0.217402	0.999991	0.58761	D	1.76	0.45711	L	.	.	.	.	.	.	0.169	0.17966	-0.6439	0.62979	T	0.302	0.67279	T	10	0.0056990087	0.00127	T	0.009362	0.24553	T	0.136	0.36778	.	.	0.474515700568	0.47080	0.34185097520819946	0.34098	0.257240741173	0.28296	0.47807687521	0.35791	T	0.077021	0.35556	T	-0.374624	0.03366	T	-0.293978	0.45356	T	0.012189863090418	0.00196	T	0.777822	0.41150	T	0.27504557	0.50569	0.21136695	0.45563	0.2726713	0.50336	0.29716197	0.55748	-3.016	0.12129	T	.	.	0.131	0.28319	B	.;.	.;.	2.214422	0.28255	17.74	0.9353510979718791	0.23359	0.85155	0.44264	D	AEFDBHCI	0.523992	0.54736	D	-0.08396049542195	0.38095	2.226033	0.0505750619888519	0.42099	2.540583	0.999999999834419	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	2.351000	0.43727	1.405000	0.26230	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.861000	0.40843	0.0:1.0:0.0:0.0	19.801	0.96506	612	0.66786	PIK-related kinase, FAT|PIK-related kinase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2566.11	34	chr8	47817561	.	C	T	2566.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.968;DP=839;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=0.302;SOR=0.715	GT:AD:DP:GQ:PL	0/1:37,57:94:99:1552,0,865	19	0	2	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.994	D	0.000	D	0.999	D	1.1	L	.	.	-0.632	T	0.303	T	0.823	4.580	24.9	5.98	2.835	6.699	18.639	0.219	0.00547327237093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	0.0002	9.631e-06	8.323e-06	1.164e-05	5.01e-06	3.86e-06	5.37e-06	3.92e-06	0	0	0	0	0	0	1e-05	1.668e-05	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.116	0.92824	T	0.996	0.90584	D	0.99	0.82059	D	0.000007	0.62929	D	0.000000	0.99932	0.46670	D	.	.	.	.	.	.	-2.35	0.57762	N	0.725	0.82964	-0.6318	0.63494	T	0.303	0.67409	T	9	0.5419149	0.63768	D	0.005473	0.14075	T	0.219	0.51417	0.234	0.16305	0.658285377725	0.65543	0.48710170484580395	0.48630	1.31309391701	0.83265	.	.	.	0.114249	0.49642	T	0.245393	0.78169	D	0.114713	0.77885	D	0.835849516035111	0.48992	D	0.837516	0.52137	T	0.58112	0.71669	0.61174595	0.77411	0.58112	0.71670	0.61174595	0.77412	-3.202	0.12505	T	.	.	0.979	0.91928	P	.;.;.;.	.;.;.;.	4.230900	0.64072	24.7	0.99840759444709359	0.92143	0.98639	0.85009	D	AEFGBHI	0.812472	0.73519	D	0.712960435504671	0.80482	7.303924	0.757067553857114	0.86685	8.968818	0.999999999869192	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	6.429000	0.73312	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.639	0.91344	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1316	133.13	53	chr8	66493691	.	G	C	133.13	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.170e+00;DP=1181;ExcessHet=1.1607;FS=144.686;InbreedingCoeff=-0.1900;MLEAC=5;MLEAF=0.132;MQ=59.63;MQRankSum=0.00;QD=0.42;ReadPosRankSum=1.07;SOR=10.685	GT:AD:DP:GQ:PL	0/1:45,17:62:40:40,0,720	14	0	5	2
chr8	97277493	97277493	C	T	exonic	TSPYL5	.	nonsynonymous SNV	TSPYL5:NM_033512:exon1:c.G352A:p.A118T,	.	.	423	1082	17	0	0	17	0.00779459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.0	B	0.083	N	1.000	N	0.28	N	2.22	T	-1.022	T	0.016	T	0.006	0.871	8.533	-3.35	-0.639	-2.322	1.645	0.010	.	0.0090	0.00419329	0.0105	0.0017	0.0074	0	0.0050	0.0155	0.0069	0.0023	0.0080077	1238	154602	rs118032326	0.0091	0.0090	0.0093	0.0090	0.0103	0.0090	0.0089	0.0102	0.0101	0.0012	0.0074	0.0126	7.754e-05	0.0050	0.0103	0.0103	0.0084	0.0020	0.0068	0.0068	0.0073	0.0063	0.0112	0.0065	0.0063	0.0105	0.0103	0.0017	0	0.0082	0.0115	0.0002	0.0024	0.0068	0.0112	0.0052	0.0012	0.063	0.36709	T	0.272	0.22223	T	0.0	0.02946	B	0.0	0.01387	B	0.082796	0.02372	N	2.452570	1	0.08975	N	0.295	0.10161	N	2.22	0.18248	T	-0.84	0.22944	N	0.015	0.00181	-1.0218	0.23129	T	0.016	0.06377	T	10	0.0042589307	0.00085	T	.	.	.	0.010	0.01040	.	.	0.117191471859	0.11215	0.2116028374169913	0.21076	0.584851860191	0.54147	0.550163447857	0.45881	T	0.007836	0.07220	T	-0.750872	0.00017	T	-0.840321	0.01094	T	0.00133939462641741	0.00013	T	0.29917	0.05580	T	0.049962588	0.08952	0.05529974	0.09676	0.049962588	0.08951	0.05529974	0.09675	-4.877	0.35476	T	.	.	0.065	0.02012	B	.	.	-1.086094	0.00657	0.018	0.95154290121206819	0.26292	0.00709	0.03002	N	AEFDBCI	0.023849	0.01388	N	-1.59739009891767	0.01277	0.05560215	-1.6371663934395	0.01444	0.06529281	0.999999713553289	0.74766	0.65757	0.49021	0	0.587265	0.34161	0	0.619478	0.44681	0	0.627883	0.49187	0	.	.	4.16	-3.35	0.04620	-3.863000	0.00391	-5.666000	0.01637	-1.075000	0.01584	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.1614:0.3902:0.1656:0.2828	1.645	0.02593	777	0.48198	.	.	.	.	.	rs118032326	Likely benign	0	0	0	0	0	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	3243.11	50	chr8	97277493	.	C	T	3243.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.11;DP=1158;ExcessHet=0.1072;FS=1.560;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=0.184;SOR=0.572	GT:AD:DP:GQ:PL	0/1:57,57:114:99:1390,0,1367	19	0	2	0
chr8	98123347	98123347	G	A	exonic	POP1	.	nonsynonymous SNV	POP1:NM_001145860:exon2:c.G10A:p.A4T	Anauxetic dysplasia 2, Autosomal recessive	.	422	1090	9	1	0	11	0.00502054	.	.	736779	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	0.573	N	1.04	L	0.71	T	-0.388	T	0.283	T	0.591	3.984	20.4	4.87	2.425	4.532	15.626	0.149	.	0.0016	0.0061901	0.0059	0.0011	0.0007	0	0	0.0020	0.0078	0.0337	0.0051228	792	154602	rs145484648	0.0036	0.0036	0.0026	0.0045	0.0343	0.0035	0.0034	0.0332	0.0328	0.0003	4.474e-05	0.0094	2.521e-05	0.0002	0.0054	0.0015	0.0044	0.0343	0.0019	0.0019	0.0016	0.0023	0.0327	0.0017	0.0017	0.0285	0.0269	0.0005	0	6.539e-05	0.0095	0	9.436e-05	0	0.0012	0.0005	0.0327	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000004	0.62929	D	0.000000	0.573212	0.31161	N	2.695	0.78878	M	0.17	0.60485	T	-1.55	0.37566	N	0.489	0.52297	-0.3875	0.72420	T	0.283	0.65537	T	10	0.006253153	0.00141	T	.	.	.	0.149	0.39377	.	.	0.753700496871	0.75147	0.545649588371386	0.54490	0.715607625372	0.61963	0.76432621479	0.76574	T	0.030538	0.21626	T	-0.272539	0.11475	T	-0.138498	0.60248	T	0.0533092230267153	0.06073	T	0.817118	0.47377	T	0.4112562	0.61504	0.42909402	0.66602	0.35116738	0.57158	0.42909402	0.66602	-4.38	0.29285	T	.	.	0.663	0.76668	P	.;.;.	.;.;.	4.920543	0.81045	27.5	0.99900096677883032	0.97199	0.95124	0.63526	D	AEFBI	0.412080	0.48230	N	0.577566730686476	0.71777	5.702617	0.58000205385397	0.73508	5.981853	0.906125806415814	0.26223	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.87	4.87	0.62877	4.583000	0.60675	11.633000	0.93719	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	15.626	0.76609	865	0.32612	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	682.98	34	chr8	98123347	.	G	A	682.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.135e+00;DP=746;ExcessHet=0.0000;FS=1.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-6.710e-01;SOR=0.477	GT:AD:DP:GQ:PL	0/1:24,29:53:99:697,0,585	20	0	1	0
chr8	100137646	100137646	A	T	exonic	FBXO43	.	nonsynonymous SNV	FBXO43:NM_001029860:exon3:c.T1593A:p.N531K,	.	.	657	859	1	5	0	11	0.00636206	.	.	2391372	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.961	D	0.36	B	0.026	N	0.842	D	1.445	L	0.63	T	-0.929	T	0.101	T	0.202	3.719	18.89	0.747	-0.031	0.589	10.622	0.065	0.0149192362661	.	.	0.0002	0	8.669e-05	0	0	9.033e-05	0	0.0008	0.0001358	21	154602	rs759048586	0.0001	0.0001	7.357e-05	0.0001	0.0011	9.476e-05	8.957e-05	0.0009	0.0008	2.991e-05	0	0	0	0	0.0009	4.409e-05	0.0002	0.0011	4.599e-05	4.597e-05	6.423e-05	2.69e-05	0.0006	2.109e-05	1.527e-05	0.0002	9e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0006	0.037	0.43085	D	0.087	0.40747	T	0.792	0.44688	P	0.255	0.39216	B	0.026485	0.25911	N	0.464068	0.841823	0.35079	D	2.56	0.74772	M	0.63	0.53088	T	-2.47	0.53898	N	0.46	0.49692	-0.9293	0.44241	T	0.101	0.37417	T	10	0.10672566	0.19791	T	0.014919	0.35345	T	0.065	0.18881	0.389	0.41115	0.730967182232	0.72857	0.2843514943073435	0.28348	0.253366326615	0.27906	0.547137498856	0.45453	T	0.035125	0.23597	T	-0.437361	0.01340	T	-0.464395	0.26123	T	0.11268768920768	0.13701	T	0.687931	0.29705	T	0.11646189	0.27469	0.14810294	0.35022	0.11646189	0.27469	0.14810294	0.35021	-7.43	0.57116	T	.	.	0.530	0.65907	A	.	.	3.249242	0.44386	21.9	0.99768485723516431	0.85666	0.74910	0.36657	D	AEFDBI	0.272461	0.38809	N	-0.026882365640812	0.40641	2.416987	-0.0119717329308746	0.39174	2.318677	0.929346123174777	0.26965	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.76	0.747	0.17520	0.660000	0.24691	3.190000	0.36699	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.554:0.0:0.446:0.0	10.622	0.44675	0	0.99858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1355.98	35	chr8	100137646	.	A	T	1355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=797;ExcessHet=0.0000;FS=4.469;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=-2.090e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/1:68,52:120:99:1370,0,1747	20	0	1	0
chr8	120811608	120811608	G	A	exonic	SNTB1	.	nonsynonymous SNV	SNTB1:NM_021021:exon1:c.C236T:p.A79V,	.	.	416	1072	33	1	0	35	0.0160624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.072	B	0.016	B	0.371	N	1.000	N	0	N	1.04	T	-1.033	T	0.058	T	0.166	1.524	11.05	3.01	1.015	1.176	5.809	0.030	.	0.0011	0.00199681	0.0039	0.0010	0.0030	0	0.0014	0.0026	0.0082	0.0100	0.0016235	251	154602	rs201940243	0.0013	0.0013	0.0010	0.0016	0.0102	0.0012	0.0012	0.0081	0.0079	0.0001	0.0008	0.0050	0	0.0003	0.0102	0.0007	0.0016	0.0086	0.0011	0.0011	0.0011	0.0011	0.0081	0.0010	0.0009	0.0061	0.0054	0.0001	0	0.0003	0.0060	0	0.0007	0.0103	0.0013	0.0005	0.0081	0.313	0.13879	T	0.35	0.17478	T	0.012	0.16265	B	0.007	0.12992	B	0.371210	0.04363	N	1.429480	1	0.08975	N	1.04	0.26193	L	1.04	0.40218	T	-0.82	0.22508	N	0.072	0.04547	-1.0331	0.19459	T	0.058	0.24465	T	10	0.0034614503	0.00061	T	.	.	.	0.030	0.07022	.	.	0.318133320967	0.31420	0.45327639487978616	0.45245	.	.	0.705061197281	0.67876	T	0.225548	0.59031	T	-0.551429	0.00286	T	-0.559034	0.16467	T	0.00172025871911033	0.00018	T	0.542346	0.18433	T	0.05869175	0.11837	0.061272908	0.11804	0.05869175	0.11837	0.061272908	0.11804	-5.537	0.42213	T	.	.	0.082	0.08657	B	.;.	.;.	1.968172	0.25002	16.60	0.97215705365773275	0.32878	0.16176	0.19266	N	AEFDBHCIJ	0.082456	0.16697	N	-0.766014321388156	0.14202	0.7055587	-0.683740317296577	0.17367	0.9231392	0.99999886410472	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.391439	0.06340	0	0.554799	0.18163	0	.	.	4.94	3.01	0.33872	0.845000	0.27321	1.235000	0.25068	0.583000	0.30283	0.006000	0.17386	0.010000	0.20010	0.794000	0.37478	0.0776:0.138:0.6416:0.1427	5.809	0.17720	430	0.80826	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	1	0	0	0	0	0	0	0	0	0	0	0.02381	1281.98	34	chr8	120811608	.	G	A	1281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.470e-01;DP=818;ExcessHet=0.0000;FS=1.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-1.286e+00;SOR=0.515	GT:AD:DP:GQ:PL	0/1:42,51:93:99:1296,0,1014	20	0	1	0
chr8	132804005	132804005	G	C	exonic	PHF20L1	.	nonsynonymous SNV	PHF20L1:NM_001277196:exon6:c.G616C:p.D206H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.951	P	0.748	P	0.143	N	1.000	D	0	N	1.46	T	-0.812	T	0.133	T	0.211	3.663	18.62	5.44	2.563	7.159	18.256	0.133	0.0217428298653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0042	0.0012	0.0011	0.0014	0.0011	0.0011	0.0014	0.0013	0.0008	6.755e-05	0.0005	0.0002	0.0001	0.0005	0.0014	0.0012	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.061	0.60337	T	0.808	0.45299	P	0.748	0.55971	P	0.142512	0.18241	N	0.607210	0.990395	0.81001	D	0	0.06538	N	0.79	0.49358	T	-2.41	0.52938	N	0.218	0.33140	-0.8119	0.54435	T	0.133	0.44622	T	10	0.1628164	0.30505	T	0.021743	0.44549	T	0.133	0.36157	0.088	0.00943	0.110392049598	0.10638	0.3606634752202491	0.35980	0.966220291154	0.73190	0.357738494873	0.19055	T	0.078333	0.35868	T	-0.114604	0.34010	T	-0.402397	0.33106	T	0.784143755589366	0.45311	D	0.943306	0.81134	D	0.2447809	0.47430	0.25823152	0.51552	0.2447809	0.47430	0.25823152	0.51551	-6.4	0.58645	T	.	.	0.217	0.48948	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.821248	0.78525	26.9	0.99493893563194913	0.67630	0.98845	0.87614	D	AEFDBI	0.837614	0.75522	D	0.361968079601839	0.59374	4.116332	0.491946387230629	0.67454	5.086353	0.999743363373417	0.42466	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.656000	0.82725	11.836000	0.97677	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.256	0.89958	887	0.27948	Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;.;Domain of unknown function DUF3776;Domain of unknown function DUF3776	.	.	.	.	.	Uncertain significance	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	132.79	34	chr8	132804005	.	G	C	132.79	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-2.844e+00;DP=1194;ExcessHet=0.3300;FS=125.612;InbreedingCoeff=-0.1665;MLEAC=4;MLEAF=0.133;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=0.472;SOR=9.270	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,12:58:99:0|1:132804005_G_C:112,0,1000:132804005	12	0	3	6
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	1/1:0,50,0:50:99:2136,151,0,2136,151,2136	0	17	0	0
chr8	143863509	143863509	A	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.T9745A:p.S3249T,	.	.	823	691	8	0	0	8	0.0057554	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388933876	0.0055	0.0033	0.0056	0.0054	0.0084	0.0053	0.0052	0.0080	0.0078	0.0003	0.0046	0.0045	0	0.0014	0.0052	0.0084	0.0038	0.0005	0.0020	0.0031	0.0022	0.0018	0.0041	0.0018	0.0017	0.0035	0.0033	0.0004	0	0.0024	0.0023	0	0.0002	0	0.0041	0.0036	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.03392	.	.	.	.	.	.	.	0.006229937	0.00140	T	.	.	.	.	.	.	.	.	.	0.03322241407721414	0.03270	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747625	0.36808	T	.	.	.	.	.	.	.	.	-11.347	0.81527	D	.	.	0.092	0.13456	B	.;.	.;.	-1.169918	0.00562	0.014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.640000	0.00002	.	.	0.367000	0.20222	0.000000	0.06391	0.000000	0.08366	0.969000	0.54022	.	.	.	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03333	52.85	17	chr8	143863509	.	A	T	52.85	.	AC=1;AF=0.033;AN=30;BaseQRankSum=0.425;DP=293;ExcessHet=0.0000;FS=3.180;InbreedingCoeff=0.0241;MLEAC=1;MLEAF=0.033;MQ=37.61;MQRankSum=-1.090e+00;QD=0.94;ReadPosRankSum=1.29;SOR=1.341	GT:AD:DP:GQ:PL	0/1:47,9:56:64:64,0,1076	14	0	1	6
chr8	143867711	143867711	G	A	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.C5543T:p.A1848V,	.	.	5	1498	17	2	0	21	0.00696056	.	.	3205931	EPPK1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.711	P	0.077	B	.	.	1.000	N	0	N	-0.27	T	-1.075	T	0.094	T	0.09	3.338	17.24	3.16	1.380	-0.271	5.695	0.052	0.0132062523454	0.0038	0.00179712	0.0026	0.0018	0.0022	0	0.0008	0.0038	0.0034	0.0002	0.0025679	397	154602	rs150969952	0.0029	0.0029	0.0029	0.0029	0.0034	0.0028	0.0028	0.0033	0.0032	0.0016	0.0027	0.0019	2.519e-05	0.0010	0.0023	0.0034	0.0026	0.0002	0.0025	0.0025	0.0029	0.0022	0.0032	0.0023	0.0023	0.0028	0.0027	0.0026	0	0.0031	0.0017	0	0.0004	0	0.0032	0.0028	0	.	.	.	0.276	0.21947	T	.	.	.	.	.	.	.	.	.	.	0.999687	0.20694	N	0	0.06538	N	.	.	.	.	.	.	0.123	0.13341	-1.0746	0.08431	T	0.094	0.35711	T	9	0.004209399	0.00084	T	0.013206	0.32434	T	.	.	.	.	0.144782658237	0.14088	0.26489912317895625	0.26402	.	.	0.262516826391	0.05193	T	0.059103	0.31024	T	-0.577283	0.00200	T	-0.599669	0.12839	T	0.00597414431006768	0.00066	T	0.369363	0.08678	T	0.048964117	0.08619	0.06274012	0.12322	0.048964117	0.08619	0.06274012	0.12322	-5.535	0.42194	T	.	.	0.134	0.29004	B	.;.	.;.	1.842317	0.23403	16.00	0.98453592216810792	0.41654	0.10922	0.16286	N	AEFGBI	0.123544	0.23919	N	-0.608624970564768	0.18684	0.9720267	-0.603839674899333	0.19393	1.040331	0.999684625525396	0.41756	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.1	3.16	0.35406	0.568000	0.23326	.	.	0.618000	0.50648	0.000000	0.06391	0.002000	0.18203	0.409000	0.26983	0.0982:0.0:0.6232:0.2786	5.695	0.17124	964	0.07719	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2931.98	82	chr8	143867711	.	G	A	2931.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.430e-01;DP=1626;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=1.03;SOR=0.726	GT:AD:DP:GQ:PL	0/1:115,124:239:99:2946,0,2656	20	0	1	0
chr8	143918210	143918210	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.G11569A:p.G3857S	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	265905	Inborn_genetic_diseases|not_provided|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.974	D	0.573	P	0.001	U	0.998	D	2.74	M	-0.73	T	-0.154	T	0.390	T	0.727	0.259	5.401	4.21	2.169	1.571	9.315	0.578	.	0.0009	0.00199681	0.0016	0.0007	0.0010	0.0098	0	0.0012	0.0017	0.0003	0.0011255	174	154602	rs201419047	0.0013	0.0013	0.0013	0.0013	0.0051	0.0013	0.0012	0.0045	0.0043	0.0002	0.0009	0	0.0051	5.441e-05	0.0008	0.0014	0.0011	0.0003	0.0010	0.0010	0.0011	0.0009	0.0066	0.0009	0.0008	0.0048	0.0042	0.0004	0	0.0007	0	0.0066	0	0	0.0012	0.0028	0.0002	0.002	0.72154	D	0.032	0.60337	D	0.974	0.57829	D	0.573	0.49966	P	0.000500	0.43931	U	0.087176	0.998323	0.44771	D	2.295	0.65404	M	-0.73	0.73100	T	-1.92	0.44852	N	0.224	0.30118	-0.1537	0.78825	T	0.390	0.74408	T	10	0.0066138804	0.00150	T	.	.	.	0.578	0.82968	.	.	0.767995865156	0.76587	0.68305954542972	0.68244	.	.	0.489253550768	0.37335	T	0.323239	0.69416	T	-0.181716	0.23480	T	-0.0293742	0.68410	D	0.0216583174307633	0.00871	T	0.952505	0.82627	D	0.023645332	0.01122	0.0634581	0.12572	0.028187621	0.02119	0.07484887	0.16415	-9.356	0.69959	D	0.6242081525451408	0.69291	0.111	0.21503	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.456521	0.31638	18.80	0.88120946569790259	0.17732	0.87986	0.47722	D	AEFDBHCI	0.538553	0.55589	D	0.27108370832694	0.54690	3.633875	0.166203405040766	0.48008	3.02259	0.999999923918294	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.21	4.21	0.48984	1.676000	0.37181	.	.	0.589000	0.31548	0.822000	0.30018	0.993000	0.31925	0.299000	0.24476	0.0:0.8984:0.0:0.1016	9.315	0.37088	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	1	0	0	0	0	1	0	0.02381	1565.98	100	chr8	143918210	.	C	T	1565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.88;DP=1620;ExcessHet=0.0000;FS=3.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.98;ReadPosRankSum=-2.280e-01;SOR=0.368	GT:AD:DP:GQ:PL	0/1:45,53:98:99:1580,0,1138	20	0	1	0
chr8	143921353	143921353	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.G8426A:p.R2809H	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	636687	Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.877	P	0.001	U	1.000	D	2.945	M	-1.22	T	0.403	D	0.651	D	0.423	2.449	14.15	4.95	2.479	4.807	18.216	0.571	0.0428530600231	8.2e-05	0.000199681	8.373e-05	0.0002	0	0	0	7.573e-05	0	0.0002	7.12e-05	11	154602	rs376887979	8.828e-05	8.893e-05	0.0001	7.565e-05	0.0002	7.557e-05	7.104e-05	0.0001	7.82e-05	5.974e-05	0.0002	3.831e-05	0	0	0	9.803e-05	0	9.278e-05	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	0.0001	0.0005	0.0004	0.0002	0	0.0008	0	0	0	0	7.349e-05	0	0	0.072	0.36310	T	0.063	0.45318	T	0.998	0.77913	D	0.806	0.62241	P	0.000798	0.41772	U	0.092477	0.999955	0.52935	D	3.42	0.91902	M	-1.22	0.78752	T	-2.79	0.59059	D	0.487	0.52829	0.403	0.89142	D	0.651	0.87846	D	10	0.46621004	0.59585	T	0.042853	0.60682	D	0.571	0.82573	.	.	0.760182496916	0.75800	0.7483232319582304	0.74778	.	.	0.48180270195	0.36305	T	0.155356	0.49706	T	-0.175862	0.24352	T	-0.22109	0.52633	T	0.622240483760834	0.37298	D	0.933707	0.75150	D	0.12144033	0.28557	0.1437278	0.34147	0.12144033	0.28556	0.1437278	0.34146	-7.219	0.55618	T	0.7289737366860316	0.81056	0.189	0.40666	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.103042	0.61189	24.3	0.98686082582987755	0.44695	0.92507	0.55874	D	AEFGBCI	0.555486	0.56590	D	0.661873515209859	0.77139	6.617617	0.600397220060328	0.74970	6.228402	0.999999998255906	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	4.866000	0.62702	.	.	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.319000	0.24947	0.0:1.0:0.0:0.0	18.216	0.89821	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4579.98	244	chr8	143921353	.	C	T	4579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=4399;ExcessHet=0.0000;FS=1.280;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.72;MQRankSum=-8.850e-01;QD=13.51;ReadPosRankSum=0.514;SOR=0.618	GT:AD:DP:GQ:PL	0/1:172,167:339:99:4594,0,4379	20	0	1	0
chr8	144511990	144511990	C	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon19:c.G3314A:p.G1105D,	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	.	0	1463	53	6	0	65	0.0217319	.	.	138890	not_specified|Hereditary_cancer-predisposing_syndrome|not_provided|Baller-Gerold_syndrome	MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.00359425	0.0054	0.0009	0.0049	0	0.0009	0.0072	0.0078	0.0057	0.0046636	721	154602	rs36078464	0.0054	0.0054	0.0053	0.0056	0.0120	0.0053	0.0053	0.0097	0.0089	0.0008	0.0044	0.0059	0	0.0008	0.0120	0.0060	0.0056	0.0055	0.0038	0.0038	0.0041	0.0036	0.0059	0.0036	0.0035	0.0055	0.0053	0.0010	0	0.0050	0.0037	0	0.0008	0.0136	0.0059	0.0061	0.0048	.	.	.	0.552	0.18125	T	0.024	0.19075	B	0.028	0.21332	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.316	0.35620	.	.	.	.	.	.	.	0.00393191	0.00075	T	.	.	.	.	.	.	.	0.724635435794	0.72219	0.44854050858578554	0.44772	.	.	0.363676905632	0.19920	T	0.00702	0.17042	T	-0.294703	0.09170	T	-0.192929	0.55314	T	.	.	.	0.70353	0.31362	T	0.16268104	0.36360	0.17259818	0.39527	0.15574713	0.35184	0.1975136	0.43536	-5.937	0.45749	T	0.30497957848529705	0.40258	0.135	0.30791	B	.;.;.	.;.;.	1.028931	0.14089	10.66	0.75393395622667547	0.11058	0.35856	0.25399	N	AEFDGBHCI	0.092741	0.18772	N	.	.	.	.	.	.	0.999999938888088	0.74766	0.283894	0.04978	0	0.278934	0.05175	0	0.299256	0.05649	0	0.221052	0.04502	0	.	.	5.32	3.47	0.38831	0.183000	0.16729	0.890000	0.22465	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.7099:0.1938:0.0962	8.553	0.32628	900	0.24599	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	2759.11	82	chr8	144511990	.	C	T	2759.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.472e+00;DP=1654;ExcessHet=0.1072;FS=0.548;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=1.42;SOR=0.620	GT:AD:DP:GQ:PL	0/1:34,52:86:99:1391,0,964	19	0	2	0
chr8	144512247	144512247	C	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon18:c.G3133A:p.A1045T,	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	YES	0	1519	3	0	0	3	0.000986518	.	.	138887	Rothmund-Thomson_syndrome_type_2|not_provided|not_specified|Baller-Gerold_syndrome|RECQL4-related_disorder	MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.00399361	0.0012	0.0112	0.0007	0.0020	0	0.0002	0	6.074e-05	0.001216	188	154602	rs35348691	0.0005	0.0005	0.0005	0.0005	0.0106	0.0005	0.0004	0.0097	0.0094	0.0106	0.0014	0.0010	0.0010	0	0.0026	9.894e-05	0.0015	0.0001	0.0036	0.0036	0.0038	0.0035	0.0117	0.0034	0.0033	0.0109	0.0105	0.0117	0	0.0029	0.0012	0.0008	0	0	5.881e-05	0.0043	0.0002	.	.	.	0.52	0.38160	T	0.89	0.48942	P	0.261	0.39516	B	.	.	.	.	.	.	.	2.635	0.77114	M	.	.	.	.	.	.	0.097	0.12484	.	.	.	.	.	.	.	0.0045722723	0.00095	T	.	.	.	.	.	.	.	0.689604367157	0.68694	0.11929209556668262	0.11856	.	.	0.337042570114	0.15994	T	0.011554	0.25615	T	-0.371329	0.03527	T	-0.298203	0.44915	T	.	.	.	0.849515	0.53247	T	0.025144268	0.01419	0.0876284	0.20381	0.03714392	0.04707	0.08291603	0.18961	-4.918	0.35937	T	0.29070564616817923	0.38721	0.083	0.11510	B	.;.;.	.;.;.	1.006230	0.13851	10.40	0.72434867363369804	0.09972	0.46003	0.27663	N	AEFGBCI	0.118593	0.23183	N	.	.	.	.	.	.	0.99999935194341	0.74766	0.295142	0.05270	0	0.278934	0.05175	0	0.299256	0.05649	0	0.322829	0.05601	0	.	.	5.37	2.4	0.28568	0.075000	0.14547	0.862000	0.22237	-0.223000	0.07921	0.000000	0.06391	0.276000	0.24078	0.002000	0.04165	0.1635:0.52:0.3165:0.0	8.599	0.32896	900	0.24599	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	3301.98	116	chr8	144512247	.	C	T	3301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=2390;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.61;ReadPosRankSum=-8.440e-01;SOR=0.677	GT:AD:DP:GQ:PL	0/1:104,122:226:99:3316,0,2455	20	0	1	0
chr8	144548395	144548395	C	T	exonic	ARHGAP39	.	nonsynonymous SNV	ARHGAP39:NM_025251:exon4:c.G691A:p.G231S	.	.	421	1052	47	2	0	51	0.0236659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.894	P	0.438	B	0.014	N	0.552	D	1.245	L	1.95	T	-1.076	T	0.036	T	0.554	2.113	13.02	5.36	2.507	5.819	16.564	0.160	.	0.0044	0.00359425	0.0051	0.0007	0.0044	0	0.0009	0.0068	0.0077	0.0058	0.0046312	716	154602	rs117441152	0.0052	0.0052	0.0051	0.0053	0.0102	0.0051	0.0050	0.0082	0.0074	0.0007	0.0043	0.0068	0	0.0008	0.0102	0.0057	0.0054	0.0052	0.0037	0.0037	0.0039	0.0034	0.0056	0.0034	0.0033	0.0051	0.0050	0.0009	0	0.0049	0.0052	0	0.0008	0.0102	0.0056	0.0052	0.0043	0.155	0.24183	T	0.158	0.31629	T	0.894	0.49185	P	0.438	0.45631	B	0.013757	0.28743	N	0.387071	0.551795	0.32139	D	1.59	0.40313	L	1.95	0.22474	T	-0.78	0.22727	N	0.444	0.48227	-1.0756	0.08225	T	0.036	0.15553	T	10	0.0073208213	0.00166	T	.	.	.	0.160	0.41473	.	.	0.444907495582	0.44111	0.4106961497537202	0.40985	1.01720932989	0.74987	0.536832273006	0.43999	T	0.018792	0.15087	T	-0.414179	0.01865	T	-0.364826	0.37492	T	0.00917352442878759	0.00116	T	0.818018	0.47523	T	0.10252791	0.24229	0.11431584	0.27593	0.10252791	0.24228	0.11431584	0.27592	-4.24	0.27327	T	.	.	0.087	0.11269	B	.;.	.;.	3.182973	0.43212	21.7	0.99535120560583046	0.70150	0.98571	0.84224	D	AEFDGBI	0.810333	0.73360	D	0.118872725980105	0.47343	2.961376	0.186487857527048	0.49107	3.117856	0.999998415264145	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.36	5.36	0.76624	4.781000	0.62082	3.937000	0.40576	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.099000	0.18236	0.0:1.0:0.0:0.0	16.564	0.84424	879	0.29470	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2413.11	41	chr8	144548395	.	C	T	2413.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.200e-01;DP=955;ExcessHet=0.1072;FS=4.386;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=1.52;SOR=0.590	GT:AD:DP:GQ:PL	0/1:71,47:118:99:989,0,1787	19	0	2	0
chr9	5069050	5069050	G	T	exonic	JAK2	.	nonsynonymous SNV	JAK2:NM_001322204:exon8:c.G908T:p.C303F	Erythrocytosis, somatic;Leukemia, acute myeloid, somatic;Myelofibrosis, somatic;Polycythemia vera, somatic;Thrombocythemia 3, Autosomal dominant, Somatic mutation	.	13	1507	1	1	0	3	0.000994365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.999	D	0.972	D	0.000	D	1.000	D	1.36	L	-2.28	D	0.139	D	0.681	D	0.974	2.831	15.43	5.02	2.310	7.590	18.352	0.803	0.191405695874	.	.	8.353e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs757327746	6.907e-06	6.841e-06	6.874e-06	6.941e-06	0.0004	3.49e-06	2.55e-06	6.173e-05	2.551e-05	0	0	3.886e-05	0	0	0.0004	2.715e-06	6.687e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.566	0.06262	T	0.575	0.08654	T	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.34	0.33385	L	-2.28	0.87512	D	-2.85	0.60029	D	0.691	0.69649	0.139	0.84863	D	0.681	0.88966	D	10	0.87958264	0.87264	D	0.191406	0.86182	D	0.803	0.93582	0.742	0.87401	0.975986362654	0.97572	0.7870126916332401	0.78653	0.824390789739	0.67314	0.742493510246	0.73340	T	0.83259	0.96018	D	0.375455	0.88413	D	0.317024	0.88966	D	0.714070200920105	0.41400	D	0.840516	0.54691	T	0.8655986	0.88516	0.4747647	0.69561	0.8655986	0.88518	0.4747647	0.69561	-7.193	0.55431	T	0.5114252279377938	0.58512	0.585	0.72295	P	.;.	.;.	4.766631	0.77121	26.6	0.97959790497518184	0.37165	0.98026	0.78979	D	AEFBI	0.913662	0.87596	D	0.540037446076716	0.69475	5.362516	0.559906844400817	0.72091	5.755275	0.999999999959681	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.573888	0.23631	0	0.669	0.65921	0	.	.	5.02	5.02	0.66742	7.702000	0.83553	.	.	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.352	0.90283	661	0.61838	SH2 domain|SH2 domain|SH2 domain|Tyrosine-protein kinase JAK2, SH2 domain;SH2 domain|SH2 domain|SH2 domain|Tyrosine-protein kinase JAK2, SH2 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	0.02381	1110.98	34	chr9	5069050	.	G	T	1110.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.267e+00;DP=784;ExcessHet=0.0000;FS=0.827;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-1.508e+00;SOR=0.876	GT:AD:DP:GQ:PL	0/1:40,47:87:99:1125,0,983	20	0	1	0
chr9	33386974	33386974	A	G	exonic	AQP7	.	nonsynonymous SNV	AQP7:NM_001318156:exon3:c.T92C:p.I31T	.	.	501	1019	2	0	0	2	0.000980392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.006	B	0.034	B	0.000	D	1.000	D	.	.	-2.66	D	0.049	D	0.592	D	0.602	1.660	11.51	3.41	1.570	8.302	10.174	0.707	0.324874246336	.	0.00279553	0.0005	9.614e-05	0.0002	0.0002	0.0012	0.0004	0.0011	0.0012	0.0001035	16	154602	rs569224546	0.0011	0.0015	0.0010	0.0012	0.0030	0.0011	0.0011	0.0027	0.0026	0.0026	0.0008	0	0.0004	0.0025	0.0005	0.0009	0.0012	0.0030	0.0020	0.0052	0.0021	0.0020	0.0035	0.0019	0.0018	0.0025	0.0024	0.0030	0	0.0003	0	0.0010	0.0024	0	0.0020	0.0010	0.0035	0.016	0.54683	D	0.045	0.79402	D	0.005	0.13644	B	0.034	0.22546	B	0.000166	0.48594	D	0.145043	0.986642	0.81001	D	.	.	.	-2.66	0.90272	D	-3.64	0.69835	D	0.577	0.63968	0.049	0.83212	D	0.592	0.85416	D	9	0.057749808	0.06683	T	0.324874	0.91582	D	0.707	0.89514	.	.	0.801924819766	0.80007	.	.	0.24940525845	0.27514	0.494553685188	0.38070	T	0.589318	0.89767	D	0.153531	0.69599	D	-0.0172397	0.69210	D	0.0988771660953761	0.12233	T	0.70293	0.33152	T	0.6251039	0.74036	0.49296644	0.70672	0.6251039	0.74037	0.49296644	0.70672	-6.157	0.47574	T	.	.	0.415	0.73479	A	.;.;.;.;.	.;.;.;.;.	3.060483	0.41100	21.3	0.97715397405910009	0.35525	0.98230	0.80748	D	AEFBI	0.952918	0.96877	D	-0.0910379442239802	0.37786	2.203335	-0.016418177532572	0.38973	2.303885	0.999976257593282	0.50053	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.41	3.41	0.38145	6.989000	0.75988	7.897000	0.73349	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.437000	0.27605	1.0:0.0:0.0:0.0	10.174	0.42105	564	0.70960	.;.;.;.;.	.	.	.	.	.	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	663.98	33	chr9	33386974	.	A	G	663.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.347e+00;DP=713;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.50;MQRankSum=-1.120e+00;QD=14.43;ReadPosRankSum=-2.465e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:18,28:46:99:678,0,470	20	0	1	0
chr9	35906608	35906610	CCG	-	exonic	HRCT1	.	nonframeshift deletion	HRCT1:NM_001039792:exon1:c.321_323del:p.R108del,	.	.	878	634	4	4	2	14	0.009375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0	0.0005	0.0005	0.0014	0.0040	0	0.0063	1.29e-05	2	154602	rs774393162	0.0019	0.0075	0.0017	0.0020	0.0044	0.0018	0.0018	0.0034	0.0032	0.0005	0.0006	0.0033	0.0001	0.0010	0.0044	0.0019	0.0012	0.0038	0.0018	0.0064	0.0015	0.0021	0.0138	0.0014	0.0013	0.0083	0.0067	0.0001	0.0040	0.0032	0.0023	0	0.0017	0	0.0017	0	0.0138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	185.12	25	chr9	35906607	.	ACCG	A	185.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.431;DP=575;ExcessHet=0.1072;FS=3.593;InbreedingCoeff=-0.0517;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=4.75;ReadPosRankSum=-1.943e+00;SOR=1.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,4:18:97:0|1:35906607_ACCG_A:97,0,575:35906607	19	0	2	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	0/1:217,52:269:99:760,0,5375	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	0/1:86,15:101:99:117,0,2280	17	0	4	0
chr9	42186070	42186070	C	A	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.C368A:p.P123Q,	.	.	581	932	9	0	0	9	0.00480513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.944	P	0.548	P	0.855	N	1.000	N	1.59	L	3.77	T	-0.991	T	0.093	T	0.28	0.292	5.579	-0.749	-0.251	-0.300	3.859	0.061	0.0458461558121	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200437387	0.0049	0.0070	0.0035	0.0063	0.0474	0.0048	0.0048	0.0460	0.0455	0.0006	0.0023	0.0205	0.0338	0.0001	0.0156	0.0009	0.0057	0.0474	0.0026	0.0045	0.0023	0.0028	0.0385	0.0023	0.0022	0.0325	0.0303	0.0003	0	0.0020	0.0176	0.0110	0.0001	0.0043	0.0011	0.0022	0.0385	0.053	0.38863	T	0.021	0.58089	D	.	.	.	.	.	.	0.855382	0.07084	N	1.091620	1	0.08975	N	.	.	.	3.76	0.03892	T	-3.08	0.63323	D	0.191	0.20925	-1.0092	0.27167	T	0.032	0.13898	T	10	0.18082914	0.33286	T	0.001276	0.01733	T	.	.	0.188	0.09776	0.0611884634855	0.05136	0.10648868283993874	0.10578	.	.	0.378626286983	0.22062	T	0.156846	0.49920	T	-0.26873	0.11899	T	-0.623789	0.10890	T	0.831403613090515	0.48639	D	0.477152	0.14354	T	0.13750571	0.31836	0.24512002	0.49993	0.13750571	0.31836	0.24512002	0.49992	-4.282	0.27924	T	.	.	0.128	0.27252	B	.	.	1.046530	0.14277	10.85	0.97870535469713527	0.36526	0.00576	0.02603	N	AEFI	0.046559	0.07744	N	-0.416166356307326	0.24902	1.347937	-0.707086879867335	0.16784	0.8895221	1.09928555570762E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.86	-0.0695	0.13084	-0.885000	0.04269	-10.357000	0.00710	0.213000	0.18003	0.000000	0.06391	0.000000	0.08366	0.215000	0.22324	0.0:0.5906:0.0:0.4094	4.028	0.09180	994	0.00715	Domain of unknown function DUF4599	.	.	.	.	.	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	486.37	11	chr9	42186070	.	C	A	486.37	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.150e-01;DP=311;ExcessHet=0.0082;FS=37.353;InbreedingCoeff=0.3489;MLEAC=4;MLEAF=0.095;MQ=24.52;MQRankSum=-1.107e+00;QD=11.31;ReadPosRankSum=-5.660e-01;SOR=6.099	GT:AD:DP:GQ:PL	1/1:0,12:12:36:337,36,0	18	1	2	0
chr9	42186631	42186631	G	A	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.G929A:p.C310Y,	.	.	455	1056	9	2	0	13	0.00611765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	P	0.084	B	0.023	N	1.000	N	0	N	3.77	T	-1.015	T	0.040	T	0.359	-1.288	0.040	1.28	1.036	0.228	6.009	0.036	0.0646955841106	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200771177	0.0006	0.0025	0.0004	0.0008	0.0053	0.0006	0.0006	0.0049	0.0048	0.0016	0.0004	0.0028	0.0035	0	0.0021	8.3e-05	0.0008	0.0053	0.0007	0.0027	0.0006	0.0007	0.0062	0.0005	0.0005	0.0043	0.0036	0.0006	0	0.0010	0.0038	0.0011	0	0	0.0001	0.0032	0.0062	1.0	0.00964	T	0.105	0.38016	T	.	.	.	.	.	.	0.023486	0.01593	N	3.231580	1	0.08975	N	.	.	.	3.86	0.03624	T	-0.73	0.20576	N	0.126	0.11912	-0.9659	0.38033	T	0.009	0.03359	T	10	0.0149745345	0.00314	T	0.001519	0.02369	T	.	.	0.267	0.21418	0.0884992946249	0.08302	0.047873059595831706	0.04730	.	.	0.373483836651	0.21330	T	0.001135	0.00643	T	-0.286259	0.10016	T	-0.648967	0.09027	T	0.0845122974965608	0.10554	T	0.390761	0.09705	T	0.050307903	0.09069	0.08850789	0.20641	0.050307903	0.09068	0.08850789	0.20641	-4.643	0.32707	T	.	.	0.115	0.22969	B	.	.	0.517844	0.08869	5.646	0.86098588306632373	0.16312	0.01193	0.04262	N	AEFI	0.038261	0.05388	N	-1.14928773722591	0.05791	0.2649468	-1.16130384548169	0.06567	0.3165288	1.52139117515779E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.27	1.31	0.20837	0.417000	0.20934	-0.230000	0.10685	0.237000	0.18210	0.003000	0.16062	0.000000	0.08366	0.086000	0.17578	0.0:0.2995:0.7005:0.0	6.671	0.22256	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	0.05	367.23	33	chr9	42186631	.	G	A	367.23	.	AC=2;AF=0.050;AN=40;BaseQRankSum=0.268;DP=1011;ExcessHet=0.0000;FS=11.281;InbreedingCoeff=0.8763;MLEAC=2;MLEAF=0.050;MQ=41.48;MQRankSum=0.349;QD=22.95;ReadPosRankSum=-1.198e+00;SOR=1.666	GT:AD:DP:GQ:PL	1/1:1,15:16:19:394,19,0	19	1	0	1
chr9	42188945	42188945	A	C	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.A3243C:p.Q1081H,	.	.	538	982	1	1	0	3	0.00152517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.013	B	0.005	B	0.168	N	1.000	N	-0.55	N	4.61	T	-1.000	T	0.021	T	0.184	-0.620	1.246	-2.01	-0.512	-0.238	2.915	0.002	0.0936970882714	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2605680	0.0011	0.0036	0.0008	0.0013	0.0111	0.0010	0.0010	0.0102	0.0098	0.0025	0.0005	0.0053	0.0111	3.903e-05	0.0033	0.0002	0.0012	0.0075	0.0019	0.0055	0.0016	0.0021	0.0205	0.0017	0.0016	0.0169	0.0155	0.0023	0	0.0010	0.0087	0.0033	0.0001	0	0.0005	0.0042	0.0205	0.442	0.09209	T	0.41	0.14544	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.9	0.10101	T	-2.0	0.46146	N	0.055	0.02658	.	.	.	.	.	.	.	0.10189211	0.18643	T	.	.	.	.	.	.	.	.	.	0.2119650982495831	0.21112	.	.	.	.	.	0.10144	0.40820	T	.	.	.	.	.	.	.	.	.	0.323768	0.06600	T	.	.	.	.	.	.	.	.	-4.881	0.35521	T	.	.	0.101	0.17700	B	.	.	-0.008512	0.04225	1.037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022000	0.13402	-2.566000	0.03601	-0.969000	0.01949	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	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	0.07895	202.29	33	chr9	42188945	.	A	C	202.29	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.197;DP=821;ExcessHet=0.0000;FS=85.503;InbreedingCoeff=0.6074;MLEAC=2;MLEAF=0.053;MQ=46.53;MQRankSum=-5.113e+00;QD=1.34;ReadPosRankSum=0.797;SOR=6.961	GT:AD:DP:GQ:PL	1/1:0,8:8:24:225,24,0	17	1	1	2
chr9	42189028	42189028	C	T	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.C3326T:p.S1109F,	.	.	511	994	16	1	0	18	0.00897308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.003	B	0.081	N	1.000	N	0.255	N	3.68	T	-0.994	T	0.007	T	0.263	-0.582	1.384	-2.45	-0.940	-2.468	0.324	0.036	0.0467376322815	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs773788763	0.0013	0.0040	0.0009	0.0017	0.0130	0.0013	0.0012	0.0123	0.0121	0.0024	0.0004	0.0049	0.0091	5.813e-05	0.0038	0.0002	0.0015	0.0130	0.0017	0.0052	0.0014	0.0021	0.0194	0.0015	0.0015	0.0159	0.0146	0.0021	0	0.0011	0.0064	0.0022	0	0	0.0005	0.0026	0.0194	0.7	0.04175	T	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.76	0.03892	T	-1.41	0.34795	N	0.082	0.05799	.	.	.	.	.	.	.	0.061792135	0.07802	T	.	.	.	.	.	.	.	.	.	0.056679223004083415	0.05608	.	.	.	.	.	0.004938	0.04364	T	.	.	.	.	.	.	.	.	.	0.423058	0.11286	T	.	.	.	.	.	.	.	.	-4.628	0.32521	T	.	.	0.133	0.28863	B	.	.	-1.072555	0.00674	0.019	.	.	.	.	.	.	0.019005	0.00622	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.688000	0.02027	-20.000000	0.00162	0.210000	0.17975	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	.	.	.	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	1552.46	206	chr9	42189028	.	C	T	1552.46	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.70;DP=3354;ExcessHet=0.0082;FS=83.153;InbreedingCoeff=0.4024;MLEAC=4;MLEAF=0.095;MQ=44.31;MQRankSum=-6.473e+00;QD=5.07;ReadPosRankSum=-1.780e-01;SOR=9.030	GT:AD:DP:GQ:PL	1/1:0,30:30:90:892,90,0	18	1	2	0
chr9	42189345	42189345	A	G	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.A3643G:p.K1215E,	.	.	462	1051	3	6	0	15	0.0070855	.	.	3185425	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.02	B	0.088	B	0.615	N	1.000	N	1.355	L	3.76	T	-0.943	T	0.013	T	0.196	0.445	6.417	-0.703	-0.171	-0.270	5.356	0.010	0.00114211886846	.	.	1.759e-05	0	0	0	0	3.155e-05	0	0	3.84e-05	1	26028	rs2605683	0.0008	0.0025	0.0006	0.0010	0.0152	0.0008	0.0008	0.0142	0.0137	0.0004	0.0002	0.0004	0.0152	0	0.0011	0.0001	0.0007	0.0051	0.0004	0.0021	0.0003	0.0005	0.0046	0.0003	0.0003	0.0030	0.0025	0.0003	0	0.0001	0.0013	0.0011	0	0	0.0002	0.0005	0.0046	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.09	0.02973	T	1.42	0.00815	N	0.072	0.04547	.	.	.	.	.	.	.	0.03878805	0.02321	T	.	.	.	.	.	.	.	.	.	0.021135356792217095	0.02066	.	.	.	.	.	0.002409	0.01807	T	.	.	.	.	.	.	.	.	.	0.278972	0.04839	T	.	.	.	.	.	.	.	.	-2.213	0.04103	T	.	.	0.059	0.00754	B	.	.	-0.450086	0.02032	0.183	.	.	.	.	.	.	0.013809	0.00197	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.281000	0.08489	-1.660000	0.04967	-0.885000	0.02425	0.004000	0.16614	0.000000	0.08366	0.006000	0.07323	.	.	.	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	0.05263	461.56	206	chr9	42189345	.	A	G	461.56	.	AC=2;AF=0.053;AN=38;DP=3377;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.053;MQ=32.17;QD=27.15;SOR=3.383	GT:AD:DP:GQ:PL	1/1:0,17:17:51:488,51,0	18	1	0	2
chr9	42189370	42189370	A	G	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.A3668G:p.H1223R,	.	.	459	1054	3	6	0	15	0.00706547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	B	0.007	B	0.010	N	1.000	N	0.345	N	3.85	T	-0.949	T	0.008	T	0.397	-0.445	1.937	-0.098	-0.012	-0.381	3.997	0.028	0.0583857480729	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs2605684	0.0009	0.0029	0.0006	0.0011	0.0102	0.0008	0.0008	0.0094	0.0090	0.0029	0.0004	0.0008	0.0102	0	0.0011	7.088e-05	0.0007	0.0075	0.0005	0.0021	0.0005	0.0005	0.0021	0.0004	0.0004	0.0010	0.0008	0.0011	0	0.0004	0.0003	0.0002	0	0	0.0001	0.0016	0.0021	0.52	0.07259	T	0.878	0.03241	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.95	0.03382	T	0.44	0.03243	N	0.016	0.00203	.	.	.	.	.	.	.	0.026660025	0.00827	T	.	.	.	.	.	.	.	.	.	0.011995039232713214	0.01158	.	.	.	.	.	1.51E-4	0.00022	T	.	.	.	.	.	.	.	.	.	0.251175	0.03802	T	.	.	.	.	.	.	.	.	-2.786	0.08055	T	.	.	0.051	0.00161	B	.	.	-1.082120	0.00662	0.018	.	.	.	.	.	.	0.025104	0.01662	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.920000	0.04121	-20.000000	0.00162	-2.266000	0.00332	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	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	0.05263	321.54	206	chr9	42189370	.	A	G	321.54	.	AC=2;AF=0.053;AN=38;DP=3369;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8795;MLEAC=2;MLEAF=0.053;MQ=32.35;QD=32.15;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,10:10:30:348,30,0	18	1	0	2
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	0/1:88,35:123:99:701,0,2401	15	2	2	2
chr9	66987438	66987438	C	G	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.G3060C:p.K1020N,	.	.	597	890	35	0	0	35	0.0192837	.	.	2334437	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201123059	0.0036	0.0077	0.0028	0.0044	0.0278	0.0035	0.0035	0.0268	0.0264	0.0004	0.0013	0.0138	0.0052	0.0002	0.0125	0.0015	0.0054	0.0278	0.0036	0.0045	0.0028	0.0046	0.0533	0.0033	0.0032	0.0464	0.0437	0.0004	0	0.0023	0.0264	0.0043	0.0005	0	0.0019	0.0067	0.0533	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.09490	.	.	.	.	.	.	.	0.08270806	0.13680	T	.	.	.	.	.	.	.	.	.	0.04967283740294485	0.04910	.	.	.	.	.	0.006475	0.05902	T	.	.	.	.	.	.	.	.	.	0.512749	0.16428	T	.	.	.	.	.	.	.	.	-4.305	0.28246	T	.	.	0.261	0.49538	B	.	.	0.186880	0.05734	2.180	.	.	.	.	.	.	0.031355	0.03337	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.603000	0.05770	-10.334000	0.00713	0.212000	0.17994	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	.	.	.	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	0.05	255.8	25	chr9	66987438	.	C	G	255.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-1.327e+00;DP=480;ExcessHet=0.1072;FS=14.748;InbreedingCoeff=-0.0634;MLEAC=2;MLEAF=0.050;MQ=32.87;MQRankSum=-3.072e+00;QD=6.09;ReadPosRankSum=0.00;SOR=3.419	GT:AD:DP:GQ:PL	0/1:21,9:30:99:170,0,680	18	0	2	1
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|1:80,13:93:81:1|0:66989561_C_G:81,0,2373:66989561	17	0	4	0
chr9	68780918	68780918	G	A	exonic	FAM122A	.	nonsynonymous SNV	FAM122A:NM_138333:exon1:c.G754A:p.G252R,	.	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.854	P	0.000	D	1.000	D	2.045	M	0.35	T	-0.546	T	0.265	T	0.662	3.671	18.66	4.42	2.758	6.241	12.838	0.246	0.0277429215411	0.0005	0.000399361	0.0011	0	0.0004	0	0.0002	0.0011	0.0011	0.0031	0.0009767	151	154602	rs200554338	0.0007	0.0007	0.0006	0.0008	0.0030	0.0006	0.0006	0.0027	0.0026	2.987e-05	0.0006	0.0056	0	7.488e-05	0.0029	0.0004	0.0009	0.0030	0.0004	0.0004	0.0004	0.0005	0.0012	0.0003	0.0003	0.0005	0.0004	0	0	0.0003	0.0046	0	0	0.0034	0.0005	0.0014	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.000040	0.55875	D	0.161453	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.5457	0.66949	T	0.265	0.63652	T	10	0.010119289	0.00226	T	0.027743	0.50513	D	0.246	0.55340	.	.	0.253981072376	0.25009	0.36986581751897574	0.36900	1.80813242872	0.91769	0.648295760155	0.59744	T	.	.	.	-0.218111	0.18252	T	-0.0891288	0.64227	T	0.0561491323691788	0.06549	T	0.926707	0.72990	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.137794	0.86009	28.8	0.99872591447364489	0.94989	0.86635	0.45957	D	AEFDGBCI	0.766183	0.70244	D	0.695315502889757	0.79327	7.054033	0.663129149016029	0.79592	7.114998	0.999999999355692	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.672317	0.60874	0	0.638787	0.57140	0	.	.	4.42	4.42	0.52775	6.927000	0.75657	11.766000	0.95743	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	12.838	0.57171	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	0.02381	2490.98	38	chr9	68780918	.	G	A	2490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=920;ExcessHet=0.0000;FS=2.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=-1.645e+00;SOR=0.516	GT:AD:DP:GQ:PL	0/1:81,93:174:99:2505,0,1946	20	0	1	0
chr9	76189177	76189177	T	C	exonic	PCSK5	.	nonsynonymous SNV	PCSK5:NM_001190482:exon19:c.T2464C:p.Y822H	.	.	432	1058	29	3	0	35	0.0162715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.995	D	0.000	N	1.000	D	2.49	M	1.5	T	-0.681	T	0.268	T	0.306	3.858	19.60	2.08	0.116	3.472	9.496	0.248	.	0.0002	0.00139776	0.0026	0.0004	0.0004	0	0	0.0002	0.0066	0.0177	0.0021863	338	154602	rs138949162	0.0012	0.0012	0.0006	0.0018	0.0181	0.0012	0.0012	0.0174	0.0171	8.968e-05	0.0002	0	0	0	0.0042	0.0001	0.0013	0.0181	0.0006	0.0006	0.0002	0.0009	0.0122	0.0005	0.0004	0.0097	0.0088	0.0001	0	0.0007	0	0	0	0	0.0001	0	0.0122	0.042	0.91255	D	0.09	0.74150	T	1.0	0.90584	D	0.995	0.83170	D	0.000017	0.62929	N	0.158960	0.995768	0.42845	D	1.665	0.42610	L	0.64	0.52867	T	-3.55	0.68764	D	0.34	0.40963	-0.6813	0.61312	T	0.268	0.63929	T	10	0.008988649	0.00203	T	.	.	.	0.248	0.55615	.	.	0.429435026966	0.42563	0.722959823309916	0.72239	0.111227701114	0.12544	0.479971021414	0.36052	T	0.378387	0.74137	T	-0.399413	0.02336	T	-0.331569	0.41295	T	0.0572492513179974	0.06729	T	0.756924	0.43862	T	0.23949578	0.46840	0.24015962	0.49383	0.23949578	0.46840	0.24015962	0.49382	-5.331	0.47671	T	.	.	0.107	0.40032	B	.;.;.;.	.;.;.;.	2.912691	0.38644	20.8	0.99792041021072841	0.87750	0.93957	0.59684	D	AEFBI	0.370293	0.45672	N	0.436052703106801	0.63417	4.574932	0.353987682553457	0.58749	4.047325	0.376577922199579	0.19921	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.7	2.08	0.26079	3.631000	0.54022	0.801000	0.21659	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.201:0.0:0.799	9.496	0.38156	905	0.23532	.;.;.;Growth factor receptor domain 4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1150.11	34	chr9	76189177	.	T	C	1150.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.59;DP=786;ExcessHet=0.1072;FS=1.530;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.09;ReadPosRankSum=1.24;SOR=0.919	GT:AD:DP:GQ:PL	0/1:37,21:58:99:544,0,889	19	0	2	0
chr9	85996407	85996407	A	G	exonic	NAA35	.	nonsynonymous SNV	NAA35:NM_001321881:exon12:c.A886G:p.I296V	.	.	445	1071	5	1	0	7	0.00325733	.	.	2127241	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.51	T	0.012	B	0.007	B	0.000	D	1.000	D	1.245	L	.	.	-1.010	T	0.134	T	0.155	-0.517	1.637	4.17	0.974	6.109	11.226	0.198	0.00242355756045	0.0002	.	0.0002	0	0.0003	0.0001	0	0.0002	0	0.0001	0.0001358	21	154602	rs141991899	0.0002	0.0002	0.0001	0.0002	0.0046	0.0001	0.0001	0.0032	0.0028	3.222e-05	0.0002	3.99e-05	0	0	0.0046	0.0001	0.0003	0.0003	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	9.232e-05	0.0002	0.0001	4.81e-05	0	6.538e-05	0	0.0002	0	0	0.0002	0.0005	0.0006	0.655	0.04772	T	0.566	0.08930	T	0.012	0.16265	B	0.007	0.12992	B	0.000003	0.62929	D	0.059668	0.999996	0.58761	D	0.695	0.17993	N	.	.	.	0.03	0.06612	N	0.303	0.34228	-1.0099	0.26949	T	0.134	0.44700	T	9	0.06796369	0.09546	T	0.002424	0.04757	T	0.198	0.48105	.	.	0.043077524339	0.03247	0.14263039097096067	0.14186	0.677524429319	0.59829	0.733525693417	0.72022	T	0.010452	0.09434	T	-0.316587	0.07181	T	-0.39634	0.33810	T	0.034544492994106	0.02730	T	0.813419	0.46649	T	0.044897635	0.07256	0.048777625	0.07315	0.044897635	0.07255	0.048777625	0.07314	-3.264	0.13277	T	.	.	0.069	0.03197	B	.	.	2.702843	0.35308	19.86	0.45503580651537717	0.03576	0.93744	0.59067	D	AEBI	0.442678	0.50030	N	-0.346880784304105	0.27386	1.502176	-0.162045870945538	0.32946	1.87959	0.936501187776815	0.27257	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.31	4.17	0.48303	5.753000	0.68391	9.387000	0.80554	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9278:0.0:0.0722:0.0	11.226	0.48116	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	0.02381	278.98	34	chr9	85996407	.	A	G	278.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=628;ExcessHet=0.0000;FS=3.666;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.45;ReadPosRankSum=1.82;SOR=1.609	GT:AD:DP:GQ:PL	0/1:22,11:33:99:293,0,555	20	0	1	0
chr9	89358763	89358763	C	T	exonic	SECISBP2	.	nonsynonymous SNV	SECISBP2:NM_001354698:exon16:c.C2297T:p.T766I	Thyroid hormone metabolism, abnormal	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.004	B	0.001	B	0.959	N	1.000	N	0	N	-0.56	T	-0.891	T	0.188	T	0.123	0.861	8.486	2.66	0.618	0.812	13.560	0.170	0.035148064147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.119	0.48080	T	0.001	0.12183	B	0.0	0.04355	B	0.959390	0.07707	N	1.018230	0.999977	0.18612	N	0	0.06538	N	-0.56	0.71307	T	-0.78	0.21644	N	0.179	0.19325	-0.8914	0.48811	T	0.188	0.53797	T	10	0.08859378	0.15269	T	0.035148	0.56152	D	0.170	0.43303	0.312	0.28612	0.683753749391	0.68105	0.1995042124630451	0.19867	0.0638515777421	0.07113	0.316762596369	0.12931	T	0.020748	0.16281	T	-0.165252	0.25954	T	-0.47515	0.24963	T	0.147216981192795	0.16880	T	0.637336	0.25103	T	0.04467184	0.07183	0.0847377	0.19514	0.04467184	0.07182	0.0847377	0.19513	-6.457	0.51312	T	0.14188872421272308	0.16000	0.111	0.21390	B	.;.;.	.;.;.	2.237621	0.28571	17.84	0.97270122119149105	0.33130	0.21552	0.21442	N	AEFDBI	0.065462	0.12770	N	-0.785736338217086	0.13680	0.6757227	-0.731562866835215	0.16177	0.8544931	0.999941433504395	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.59	2.66	0.30672	0.916000	0.28273	1.690000	0.28065	0.599000	0.40250	0.002000	0.15269	0.002000	0.18203	0.665000	0.33109	0.0:0.7013:0.2987:0.0	13.560	0.61249	974	0.05496	.;.;.	.	.	.	.	.	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	1757.98	37	chr9	89358763	.	C	T	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.313e+00;DP=917;ExcessHet=0.0000;FS=8.848;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.65;ReadPosRankSum=-6.560e-01;SOR=0.269	GT:AD:DP:GQ:PL	0/1:46,74:120:99:1772,0,1157	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	0/1:248,149:422:99:855,0,4035	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	2/4:2,0,29,0,36,0:67:99:2475,2421,2462,1273,1327,1194,2421,2462,1327,2462,988,1074,0,1074,969,2421,2462,1327,2462,1074,2462	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	2/4:2,0,29,0,36,0:67:99:2475,2421,2462,1273,1327,1194,2421,2462,1327,2462,988,1074,0,1074,969,2421,2462,1327,2462,1074,2462	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	2/4:2,0,29,0,36,0:67:99:2475,2421,2462,1273,1327,1194,2421,2462,1327,2462,988,1074,0,1074,969,2421,2462,1327,2462,1074,2462	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	2/4:2,0,29,0,36,0:67:99:2475,2421,2462,1273,1327,1194,2421,2462,1327,2462,988,1074,0,1074,969,2421,2462,1327,2462,1074,2462	1	2	3	0
chr9	96938370	96938370	G	A	exonic	NUTM2G	.	nonsynonymous SNV	NUTM2G:NM_001170741:exon7:c.G1447A:p.E483K,	.	.	445	1074	3	0	0	3	0.0013947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	0.141	N	1.000	N	1.67	L	2.48	T	-1.052	T	0.037	T	0.175	1.960	12.51	-0.043	0.004	-0.425	4.894	0.041	0.00101187669509	.	0.00239617	0.0045	0.0032	0	0	0	0.0081	0	0	0.0019978	52	26028	rs533125745	0.0069	0.0070	0.0071	0.0068	0.0085	0.0068	0.0068	0.0083	0.0083	0.0011	0.0024	0.0005	0	0.0009	0.0015	0.0085	0.0060	0.0002	0.0050	0.0050	0.0057	0.0043	0.0081	0.0047	0.0046	0.0075	0.0073	0.0017	0.0687	0.0032	0	0	0.0009	0	0.0081	0.0078	0	0.013	0.53900	D	0.026	0.55759	D	.	.	.	.	.	.	0.140537	0.18306	N	0.500084	1	0.08975	N	2.94	0.84723	M	2.48	0.14657	T	-2.1	0.47852	N	0.118	0.10769	-1.0517	0.13926	T	0.037	0.16029	T	8	0.0050183237	0.00108	T	0.001012	0.01096	T	0.041	0.10877	.	.	0.0297737177859	0.01360	0.08481698556847918	0.08415	.	.	0.661004543304	0.61553	T	0.080866	0.36464	T	-0.551107	0.00287	T	-0.559979	0.16380	T	0.04844731092453	0.05223	T	0.468553	0.13811	T	0.10898201	0.25765	0.118755795	0.28666	0.10898201	0.25765	0.118755795	0.28666	-8.012	0.61152	D	.	.	0.145	0.32030	B	.	.	2.271568	0.29037	17.99	0.99305059808855667	0.58795	0.02053	0.06133	N	AEFGI	0.029091	0.02684	N	-0.509508482255305	0.21772	1.157866	-0.712298998012798	0.16655	0.8820704	3.73218736450228E-5	0.03775	0.421363	0.06395	0	0.514364	0.08380	0	0.536957	0.11973	0	0.727631	0.95156	0	.	.	1.01	-0.0434	0.13188	-0.741000	0.04961	-20.000000	0.00162	-0.336000	0.05739	0.005000	0.17040	0.000000	0.08366	0.034000	0.13613	0.0:0.3908:0.6092:0.0	4.894	0.13098	803	0.44167	Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	293.98	22	chr9	96938370	.	G	A	293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.99;DP=632;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=30.24;MQRankSum=1.53;QD=8.17;ReadPosRankSum=0.034;SOR=0.239	GT:AD:DP:GQ:PL	0/1:24,12:36:99:308,0,671	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	2/2:0,0,7:7:22:.:.:317,317,317,22,22,0	2	0	1	0
chr9	98080912	98080912	G	A	exonic	NANS	.	nonsynonymous SNV	NANS:NM_018946:exon5:c.G700A:p.V234M,	Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, Autosomal recessive	.	418	1101	3	0	0	3	0.00136054	.	.	1654836	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.984	D	0.000	D	1.000	D	1.715	L	0.72	T	-0.606	T	0.264	T	0.615	4.222	21.9	5.44	2.739	6.349	17.134	0.255	0.0367466877027	0.0005	.	0.0003	0	8.643e-05	0	0	0.0004	0	6.084e-05	0.0002652	41	154602	rs142834890	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0002	0.0011	0.0008	0.0001	0.0002	0.0033	0	3.744e-05	0.0019	0.0001	0.0006	0.0001	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	9.617e-05	0	0.0002	0.0049	0	0	0	0.0003	0	0	0.051	0.58626	T	0.011	0.65728	D	0.873	0.47975	P	0.491	0.47360	P	0.000000	0.84330	D	0.052122	0.999947	0.81001	D	2.82	0.82106	M	0.72	0.50976	T	-2.41	0.52938	N	0.619	0.63459	-0.6055	0.64590	T	0.264	0.63555	T	10	0.027842253	0.00924	T	0.036747	0.57186	D	0.255	0.56562	.	.	0.707837459798	0.70529	0.7778025273869382	0.77730	0.788549250124	0.65645	0.734516501427	0.72167	T	0.04251	0.26207	T	-0.172392	0.24873	T	-0.179429	0.56575	T	0.318256437778473	0.25751	T	0.985721	0.97782	D	0.6805445	0.76999	0.5199654	0.72266	0.6805445	0.77000	0.5199654	0.72266	-8.017	0.61186	D	.	.	0.631	0.70166	P	.;.;.	.;.;.	4.612219	0.73149	25.9	0.99901080076556281	0.97275	0.93048	0.57195	D	AEFBCI	0.793777	0.72168	D	0.644555746018845	0.76017	6.409479	0.666380585289212	0.79837	7.167215	0.99999987436656	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.44	5.44	0.79348	6.458000	0.73425	9.811000	0.81748	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	17.134	0.86611	676	0.60355	N-acetylneuraminic acid synthase, N-terminal;N-acetylneuraminic acid synthase, N-terminal;N-acetylneuraminic acid synthase, 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	2357.98	37	chr9	98080912	.	G	A	2357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.16;DP=888;ExcessHet=0.0000;FS=1.857;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-2.085e+00;SOR=0.532	GT:AD:DP:GQ:PL	0/1:89,89:178:99:2372,0,2111	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	0/1:109,25:134:59:.:.:59,0,2340	7	0	9	5
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.993	D	0.977	D	0.002	N	0.528	D	1.87	L	0.88	T	-0.548	T	0.199	T	0.636	0.801	8.213	4.73	1.367	2.869	8.596	0.118	0.0618637391386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	0.0004	4.089e-06	2.753e-06	3.602e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.57104	D	0.949	0.65571	P	0.496	0.73820	P	0.002376	0.36688	N	0.265487	0.528475	0.31955	D	2.125	0.59049	M	0.88	0.46028	T	-1.48	0.56144	N	0.354	0.44857	-0.5485	0.66844	T	0.199	0.55442	T	10	0.25693607	0.43103	T	0.061864	0.68469	D	0.118	0.32913	0.194	0.10571	0.52468985305	0.52114	0.3132723605175298	0.31240	0.508839714498	0.49031	0.421055316925	0.27981	T	0.068456	0.33461	T	-0.00465218	0.51011	T	-0.244459	0.50362	T	0.82229095697403	0.47942	D	0.916508	0.71628	D	0.14253841	0.32799	0.105709225	0.25417	0.14253841	0.32798	0.105709225	0.25416	-6.736	0.54231	T	.	.	0.488	0.66996	A	.;.;.;.;.;.	.;.;.;.;.;.	3.479942	0.48587	22.6	0.93161729188529674	0.22814	0.93481	0.58334	D	AEFBCIJ	0.371545	0.45752	N	0.194427995474043	0.50931	3.278602	0.1677655242984	0.48093	3.029822	0.999992215884336	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.63	4.73	0.59485	3.590000	0.53726	5.886000	0.50702	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1723:0.0:0.8277:0.0	8.596	0.32880	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1628.87	70	chr9	110137052	.	G	C	1628.87	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-2.866e+00;DP=1349;ExcessHet=3.5521;FS=192.403;InbreedingCoeff=-0.3771;MLEAC=10;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.60;ReadPosRankSum=0.889;SOR=10.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,19:82:99:0|1:110137052_G_C:190,0,2429:110137052	6	0	8	7
chr9	110137054	110137054	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084C:p.A362P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.999	D	0.996	D	0.000	D	0.802	D	1.445	L	0.85	T	-0.701	T	0.211	T	0.556	0.977	8.990	4.46	2.691	3.205	11.752	0.106	0.0240367102959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.656e-05	0.0033	4.12e-05	3.187e-05	0.0002	2.851e-05	2.586e-05	3.493e-05	3.152e-05	3.008e-05	0	3.836e-05	0	0	0.0002	4.541e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.206	0.31833	T	0.98	0.77913	D	0.731	0.84481	P	0.000361	0.45440	D	0.192211	0.801683	0.34520	D	1.6	0.40776	L	0.85	0.47130	T	-0.13	0.17417	N	0.259	0.43029	-0.7007	0.60404	T	0.211	0.57174	T	10	0.23016733	0.39961	T	0.024037	0.47022	T	0.106	0.30130	0.217	0.13788	0.713993983955	0.71148	0.23740471580261735	0.29225	0.516168458663	0.49506	0.390263020992	0.23706	T	0.030762	0.21729	T	-0.0678756	0.41665	T	-0.335275	0.40877	T	0.783624947071075	0.45278	D	0.90061	0.65471	D	0.24448925	0.47398	0.26249248	0.52042	0.24448925	0.47398	0.26249248	0.52041	-8.416	0.66933	D	.	.	0.663	0.75561	P	.;.;.;.;.;.	.;.;.;.;.;.	4.039548	0.59798	24.1	0.98775053701776594	0.46033	0.67690	0.33524	D	AEFBCIJ	0.269496	0.38576	N	0.281387811107843	0.55205	3.684758	0.278666808938951	0.54296	3.594986	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2059	1505.95	70	chr9	110137054	.	G	C,A	1505.95	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.967e+00;DP=1369;ExcessHet=2.5830;FS=184.238;InbreedingCoeff=-0.2728;MLEAC=2,6;MLEAF=0.059,0.176;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.29;SOR=10.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:63,0,19:82:99:0|1:110137052_G_C:190,379,2863,0,2483,2429:110137052	10	0	2	4
chr9	110137054	110137054	G	A	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084A:p.A362T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.997	D	0.989	D	0.000	D	0.555	D	1.79	L	0.82	T	-0.607	T	0.231	T	0.281	1.466	10.85	4.46	2.691	3.205	11.752	0.058	0.0262409829576	.	.	1.678e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs777202417	6.173e-06	6.157e-06	8.191e-06	4.136e-06	0.0002	2.91e-06	2.1e-06	0.0001	7.819e-05	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.084	0.42976	T	0.873	0.70673	P	0.461	0.78396	P	0.000361	0.45440	D	0.192211	0.554502	0.32161	D	1.95	0.52479	M	0.82	0.48142	T	-0.38	0.20145	N	0.196	0.26596	-0.6067	0.64540	T	0.231	0.59732	T	10	0.15551329	0.29309	T	0.026241	0.49161	D	0.058	0.16647	0.201	0.11522	0.606491963429	0.60334	0.1585652680794885	0.19118	0.413830099629	0.42075	0.353128492832	0.18382	T	0.05449	0.29740	T	-0.32145	0.06780	T	-0.414803	0.31673	T	0.136570181284112	0.15976	T	0.914109	0.69400	D	0.07271283	0.16195	0.093768194	0.22163	0.07271283	0.16195	0.093768194	0.22162	-5.913	0.46163	T	.	.	0.123	0.36653	B	.;.;.;.;.;.	.;.;.;.;.;.	3.350669	0.46210	22.3	0.99576051814353395	0.72682	0.77969	0.38401	D	AEFBCIJ	0.274752	0.38987	N	0.18937847889013	0.50690	3.256583	0.211920241110118	0.50507	3.242088	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	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	0.2059	1505.95	70	chr9	110137054	.	G	C,A	1505.95	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.967e+00;DP=1369;ExcessHet=2.5830;FS=184.238;InbreedingCoeff=-0.2728;MLEAC=2,6;MLEAF=0.059,0.176;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.29;SOR=10.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:63,0,19:82:99:0|1:110137052_G_C:190,379,2863,0,2483,2429:110137052	10	0	2	4
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	0/1:114,69:183:99:.:.:985,0,3066	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	0/1:114,35:165:99:.:.:715,0,3117	9	0	10	2
chr9	120952846	120952846	A	C	exonic	C5	.	nonsynonymous SNV	C5:NM_001317163:exon41:c.T4942G:p.L1648V	C5 deficiency	.	1	1513	8	0	0	8	0.00263678	.	.	1479378	not_provided|Complement_component_5_deficiency|Eculizumab,_poor_response_to	MedGen:C3661900|MONDO:MONDO:0012295,MedGen:C0343047,OMIM:609536|MedGen:C3810402,OMIM:615749	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.175	B	0.122	B	0.530	N	1.000	N	0.69	N	0.41	T	-1.010	T	0.121	T	0.211	0.924	8.762	4.4	2.251	1.714	8.630	0.111	0.0155751972332	.	.	4.949e-05	0	0	0	0	7.504e-05	0	6.062e-05	3.88e-05	6	154602	rs762245967	5.336e-05	5.336e-05	4.22e-05	6.464e-05	0.0038	4.344e-05	4.018e-05	0.0026	0.0022	0	0.0001	0	0	0	0.0038	2.608e-05	0.0002	0.0001	8.539e-05	8.536e-05	8.991e-05	8.066e-05	0.0002	4.955e-05	3.961e-05	5.285e-05	2.835e-05	0	0	0.0002	0	0	0	0.0158	4.409e-05	0.0010	0	0.186	0.21467	T	0.066	0.44501	T	0.175	0.28858	B	0.122	0.32387	B	0.530116	0.05252	N	1.264900	0.999721	0.20581	N	1.39	0.34934	L	0.41	0.57100	T	-0.18	0.09796	N	0.119	0.10911	-1.0100	0.26917	T	0.121	0.42101	T	10	0.16003439	0.30055	T	0.015575	0.36391	T	0.111	0.31313	.	.	0.61599129918	0.61289	0.4388314610739815	0.43800	0.18889345129	0.21207	0.272657752037	0.06490	T	0.06313	0.32096	T	-0.297445	0.08903	T	-0.468064	0.25725	T	0.0453422232785388	0.04664	T	0.60384	0.22664	T	0.18121415	0.39280	0.15085992	0.35561	0.18121415	0.39280	0.15085992	0.35560	-3.595	0.17785	T	.	.	0.077	0.06341	B	.	.	2.409194	0.30961	18.60	0.93811445791229486	0.23787	0.49278	0.28397	N	AEFBI	0.298913	0.40810	N	-0.182637510536595	0.33857	1.925706	-0.0290147272602816	0.38409	2.262579	0.999982084323757	0.51787	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	5.56	4.4	0.52402	1.824000	0.38710	5.854000	0.50366	0.756000	0.94297	0.791000	0.29607	1.000000	0.68203	0.945000	0.48827	0.9096:0.0:0.0904:0.0	8.630	0.33076	942	0.12992	Netrin module, non-TIMP type|Netrin domain|Netrin module, non-TIMP 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	1272.98	34	chr9	120952846	.	A	C	1272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.865e+00;DP=810;ExcessHet=0.0000;FS=1.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.580;SOR=0.875	GT:AD:DP:GQ:PL	0/1:52,55:107:99:1287,0,1338	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|1:322,44:366:99:0|1:122724732_T_C:738,0,13208:122724732	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|1:316,31:347:99:0|1:122724732_T_C:350,0,13165:122724732	5	0	12	4
chr9	122801017	122801017	C	T	exonic	OR1K1	.	stopgain	OR1K1:NM_080859:exon1:c.C895T:p.Q299X,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.002	U	1.000	N	.	.	.	.	.	.	.	.	.	1.489	10.93	3.55	1.032	2.152	10.188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002344	0.36727	U	0.000000	0.792158	0.29213	N	.	.	.	.	.	.	.	.	.	0.01	0.00095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533817	0.95261	D	0.529014	0.95190	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.326430	0.95020	34	0.9816715094893288	0.38822	0.79044	0.39095	D	AEFDGBI	0.114172	0.22499	N	0.264134787507024	0.54342	3.599947	-0.0156217526685863	0.39009	2.306518	0.999793712830029	0.43153	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.49	3.55	0.39770	2.926000	0.48587	-2.809000	0.03339	0.581000	0.30040	0.693000	0.28559	0.000000	0.08366	0.024000	0.12247	0.4935:0.5065:0.0:0.0	10.188	0.42184	914	0.21048	.	.	.	.	.	.	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	1757.98	35	chr9	122801017	.	C	T	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.942e+00;DP=884;ExcessHet=0.0000;FS=1.326;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.864;SOR=0.698	GT:AD:DP:GQ:PL	0/1:67,75:142:99:1772,0,1836	20	0	1	0
chr9	125220560	125220560	C	A	exonic	RABEPK	.	nonsynonymous SNV	RABEPK:NM_001174153:exon5:c.C233A:p.P78Q	.	.	424	1056	38	4	0	46	0.021316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.99	D	0.007	N	0.999	N	3.125	M	0.97	T	-1.078	T	0.028	T	0.605	4.027	20.7	5.7	2.693	4.386	18.832	0.176	.	0.0032	0.0131789	0.0108	0.0023	0.0273	0.0366	0.0003	0.0027	0.0099	0.0280	0.0099352	1536	154602	rs74769898	0.0060	0.0060	0.0055	0.0066	0.0350	0.0059	0.0059	0.0335	0.0328	0.0019	0.0264	0.0047	0.0350	0.0002	0.0232	0.0029	0.0067	0.0272	0.0059	0.0059	0.0052	0.0067	0.0292	0.0056	0.0055	0.0254	0.0239	0.0016	0	0.0235	0.0058	0.0292	0	0.0171	0.0028	0.0033	0.0217	0.043	0.57480	D	0.051	0.61642	T	1.0	0.90584	D	0.99	0.78936	D	0.006842	0.31758	N	0.363683	0.999446	0.47080	D	3.72	0.94773	H	0.97	0.66294	T	-4.42	0.84175	D	0.662	0.67132	-1.0783	0.07681	T	0.028	0.12014	T	10	0.0064848065	0.00147	T	.	.	.	0.221	0.51721	.	.	.	.	0.6740180901266283	0.67339	0.233025175349	0.25843	0.377287000418	0.21871	T	0.08909	0.44184	T	-0.249871	0.14115	T	-0.105936	0.62934	T	0.0934891749203669	0.11626	T	0.733327	0.38041	T	0.522306	0.68392	0.43743414	0.67163	0.522306	0.68393	0.43743414	0.67163	-10.065	0.77970	D	.	.	0.174	0.62994	B	.;.;.;.	.;.;.;.	4.352240	0.66859	25.0	0.99131009604192399	0.53249	0.96984	0.72022	D	AEFDGBI	0.664585	0.63370	D	0.31568777204679	0.56953	3.861072	0.418815872447802	0.62737	4.494331	0.999843403595419	0.43971	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	4.807000	0.62267	7.675000	0.64997	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.737000	0.35335	0.0:1.0:0.0:0.0	18.832	0.92112	849	0.35778	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1708.98	38	chr9	125220560	.	C	A	1708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.393e+00;DP=911;ExcessHet=0.0000;FS=0.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=0.215;SOR=0.602	GT:AD:DP:GQ:PL	0/1:50,66:116:99:1723,0,1330	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	0/1:61,17,3:81:99:.:.:255,0,2005,347,2015,2656	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|1:64,17:81:99:0|1:127707149_T_C:178,0,2052:127707149	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|1:61,20:81:99:0|1:127707149_T_C:301,0,1935:127707149	12	0	9	0
chr9	128309577	128309577	C	G	exonic	TRUB2	.	nonsynonymous SNV	TRUB2:NM_001329861:exon7:c.G837C:p.L279F	.	.	428	1081	13	0	0	13	0.00597701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.003	N	1.000	N	1.79	L	1.99	T	-1.051	T	0.034	T	0.113	1.557	11.16	-0.679	0.163	-0.006	2.805	0.021	0.00372675769123	0.0049	0.00219649	0.0044	0.0002	0.0018	0	0.0026	0.0063	0.0045	0.0045	0.0042043	650	154602	rs41313867	0.0042	0.0042	0.0041	0.0043	0.0051	0.0041	0.0041	0.0047	0.0046	0.0004	0.0019	0.0119	0	0.0019	0.0037	0.0045	0.0036	0.0051	0.0036	0.0036	0.0040	0.0031	0.0060	0.0033	0.0032	0.0055	0.0053	0.0005	0.0143	0.0018	0.0124	0	0.0017	0	0.0060	0.0024	0.0029	0.052	0.39097	T	0.373	0.16328	T	0.0	0.02946	B	0.001	0.04355	B	0.003016	0.00932	N	2.679800	1	0.08975	N	2.48	0.72069	M	1.98	0.21865	T	-0.39	0.13611	N	0.067	0.03956	-1.0514	0.14009	T	0.034	0.14769	T	10	0.0036183894	0.00066	T	0.003727	0.08651	T	0.021	0.04004	0.272	0.22210	0.0716867268079	0.06686	0.3212666388179627	0.32039	0.269552850117	0.29473	0.259672522545	0.04852	T	0.003222	0.02626	T	-0.632672	0.00092	T	-0.679647	0.07004	T	0.0107828835606038	0.00153	T	0.328467	0.06836	T	0.027070815	0.01847	0.040879674	0.04519	0.027070815	0.01847	0.040879674	0.04519	-5.694	0.43640	T	.	.	0.072	0.04080	B	.	.	0.585075	0.09533	6.312	0.93972092228287973	0.24048	0.21509	0.21427	N	AEFDBCI	0.113309	0.22362	N	-1.10502060093124	0.06553	0.3019917	-1.16490163202437	0.06504	0.3133079	0.999998224848817	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.99	-0.679	0.10779	-0.175000	0.09816	0.036000	0.13800	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3316:0.3005:0.0:0.3679	2.805	0.05093	315	0.87208	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	594.98	41	chr9	128309577	.	C	G	594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.982e+00;DP=753;ExcessHet=0.0000;FS=3.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.44;ReadPosRankSum=0.153;SOR=1.369	GT:AD:DP:GQ:PL	0/1:36,27:63:99:609,0,1009	20	0	1	0
chr9	130394559	130394559	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon69:c.G10676A:p.R3559Q,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0003	0	0	0	0	0.0010	0	0	0.0001488	23	154602	rs149109569	0.0008	0.0007	0.0009	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	8.208e-05	0.0002	0	0	7.693e-05	0.0005	0.0010	0.0008	3.95e-05	0.0005	0.0005	0.0006	0.0004	0.0010	0.0004	0.0004	0.0008	0.0007	0.0002	0	6.532e-05	0	0	0	0	0.0010	0.0005	0	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.05799	.	.	.	.	.	.	.	0.01161167	0.00253	T	.	.	.	.	.	.	.	0.110078149338	0.10416	0.16549554117314838	0.16469	.	.	.	.	.	0.030343	0.21531	T	-0.634012	0.00090	T	-0.724024	0.04604	T	.	.	.	0.471653	0.14010	T	0.04994343	0.08945	0.14676443	0.34758	0.04994343	0.08945	0.14676443	0.34758	-5.379	0.40717	T	.	.	0.082	0.08609	B	.	.	1.967770	0.24995	16.60	0.83575912068640168	0.14801	0.56219	0.30061	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.507468217774655	0.20992	0.090766	0.02384	0	0.063388	0.01293	0	0.129117	0.03641	0	0.079188	0.02158	0	0.109144	0.23454	4.46	0.235	0.14697	0.616000	0.24038	-0.284000	0.10246	-0.162000	0.11565	0.001000	0.13787	0.000000	0.08366	0.043000	0.14563	0.3564:0.0:0.5044:0.1392	4.747	0.12418	385	0.83500	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	929.98	39	chr9	130394559	.	G	A	929.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=762;ExcessHet=0.0000;FS=2.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.03;ReadPosRankSum=-9.940e-01;SOR=1.075	GT:AD:DP:GQ:PL	0/1:23,35:58:99:944,0,489	20	0	1	0
chr9	131057055	131057055	C	T	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon12:c.C2066T:p.P689L,	Cortical malformations, occipital, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	191237	Inborn_genetic_diseases|Occipital_pachygyria_and_polymicrogyria|not_specified|not_provided|LAMC3-related_disorder	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.523	P	0.344	B	0.000	N	1.000	D	2.3	M	-0.05	T	-0.855	T	0.218	T	0.262	2.690	14.96	0.752	0.113	0.897	5.771	0.139	0.0549193988053	0.0015	0.000399361	0.0006	0.0026	0.0009	0.0010	0	0.0003	0	6.058e-05	0.000511	79	154602	rs113443891	0.0003	0.0003	0.0003	0.0003	0.0042	0.0003	0.0003	0.0036	0.0034	0.0042	0.0005	0.0052	0.0003	0	0.0014	6.025e-05	0.0007	6.956e-05	0.0011	0.0011	0.0012	0.0011	0.0032	0.0010	0.0009	0.0028	0.0026	0.0032	0	0.0006	0.0063	0.0004	0	0	4.41e-05	0.0005	0.0002	0.238	0.17821	T	0.194	0.28120	T	0.523	0.37559	P	0.344	0.42549	B	0.000001	0.62929	N	0.058030	0.999918	0.51042	D	2.285	0.65182	M	-0.05	0.63403	T	-6.24	0.90530	D	0.3	0.33904	-0.8546	0.51648	T	0.218	0.58111	T	10	0.0112422705	0.00247	T	0.054919	0.66037	D	0.139	0.37390	.	.	0.799219371692	0.79734	0.5904426597122575	0.58974	0.326212291116	0.34772	0.454223453999	0.32521	T	0.256934	0.62790	T	-0.409885	0.01991	T	-0.364284	0.37555	T	0.0874252520732733	0.10909	T	0.880912	0.59977	D	0.20331456	0.42406	0.14030047	0.33447	0.20331456	0.42406	0.14030047	0.33446	-7.271	0.55989	T	.	.	0.066	0.02173	B	.	.	2.434687	0.31330	18.71	0.96165887229890878	0.28911	0.26625	0.23047	N	AEFBCI	0.102189	0.20505	N	-0.196561798817418	0.33277	1.886105	-0.253029366104345	0.29667	1.663974	0.999766122908633	0.42728	0.736574	0.97449	0	0.547309	0.14657	0	0.732669	0.93749	0	0.542086	0.14980	0	.	.	4.89	0.752	0.17546	0.919000	0.28312	0.757000	0.21283	0.573000	0.29008	0.045000	0.21207	0.007000	0.19602	0.984000	0.60418	0.1331:0.6343:0.0:0.2327	5.771	0.17517	411	0.82069	Laminin EGF domain|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	1006.98	36	chr9	131057055	.	C	T	1006.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.637;DP=788;ExcessHet=0.0000;FS=0.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=1.78;SOR=0.593	GT:AD:DP:GQ:PL	0/1:49,42:91:99:1021,0,1164	20	0	1	0
chr9	131061103	131061103	A	G	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon13:c.A2227G:p.N743D,	Cortical malformations, occipital, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	359891	Inborn_genetic_diseases|LAMC3-related_disorder|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.476	P	0.405	B	0.000	N	0.728	D	0.975	L	0.15	T	-0.891	T	0.127	T	0.034	-0.190	3.076	3.66	0.706	2.278	6.736	0.143	0.0474985093053	0.0012	0.000199681	0.0003	0.0017	0	0	0	0.0003	0	0	0.0003105	48	154602	rs36030184	0.0002	0.0002	0.0002	0.0002	0.0027	0.0002	0.0002	0.0023	0.0021	0.0027	2.236e-05	0.0052	0	0	0.0014	4.676e-05	0.0006	2.319e-05	0.0007	0.0007	0.0008	0.0007	0.0020	0.0006	0.0006	0.0016	0.0015	0.0020	0	0.0001	0.0063	0	0	0	2.941e-05	0	0	0.828	0.02899	T	0.632	0.07150	T	0.476	0.36665	P	0.405	0.44649	B	0.000019	0.62929	N	0.151262	0.727577	0.33683	D	0.32	0.10341	N	0.15	0.60734	T	-2.77	0.58733	D	0.202	0.22357	-0.8910	0.48846	T	0.127	0.43421	T	10	0.014074862	0.00297	T	0.047499	0.62947	D	0.143	0.38195	.	.	0.743718045392	0.74141	0.3551662572859445	0.35430	0.406411375388	0.41517	0.488658607006	0.37251	T	0.097506	0.40039	T	-0.561512	0.00249	T	-0.585825	0.14030	T	0.0747152916828613	0.09297	T	0.673433	0.28201	T	0.26544875	0.49613	0.1791495	0.40631	0.26544875	0.49613	0.1791495	0.40630	-6.441	0.49829	T	.	.	0.107	0.20235	B	.	.	3.093428	0.41662	21.4	0.66119404724584241	0.07966	0.76213	0.37362	D	AEFDGBCI	0.335363	0.43383	N	-0.359915671640983	0.26910	1.472327	-0.301017294039814	0.28067	1.561962	0.999998833359701	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.79	3.66	0.41111	2.280000	0.43103	5.989000	0.52298	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.137000	0.19835	0.8128:0.0:0.1872:0.0	6.736	0.22599	408	0.82256	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF 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	1041.98	33	chr9	131061103	.	A	G	1041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.480e-01;DP=928;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.66;ReadPosRankSum=-1.320e-01;SOR=0.713	GT:AD:DP:GQ:PL	0/1:18,41:59:99:1056,0,397	20	0	1	0
chr9	131069768	131069768	G	A	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon17:c.G2987A:p.R996H,	Cortical malformations, occipital, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	428934	not_specified|not_provided|LAMC3-related_disorder|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.208	B	0.075	B	0.001	N	0.738	D	1.605	L	-0.09	T	-0.866	T	0.153	T	0.146	2.596	14.64	1.98	0.455	-0.058	4.706	0.040	0.0213777317512	0.0010	.	0.0007	0.0024	0.0003	0	0	0.0007	0	0	0.0003105	48	154602	rs113785045	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0017	0.0015	0.0021	4.749e-05	0.0053	0	0	0.0014	4.893e-05	0.0007	2.402e-05	0.0006	0.0006	0.0006	0.0005	0.0015	0.0005	0.0004	0.0012	0.0011	0.0015	0	0	0.0063	0	0	0	2.94e-05	0	0	0.109	0.29288	T	0.162	0.31225	T	0.208	0.29916	B	0.075	0.28327	B	0.001200	0.39899	N	0.217580	0.737723	0.33788	D	1.625	0.41611	L	-0.09	0.64086	T	-2.39	0.52612	N	0.29	0.32812	-0.8662	0.50812	T	0.153	0.48257	T	10	0.020186871	0.00461	T	0.021378	0.44139	T	0.040	0.10527	.	.	0.752969059258	0.75073	0.34906727268766224	0.34820	0.209138445766	0.23382	0.259433120489	0.04824	T	0.087501	0.37956	T	-0.462583	0.00947	T	-0.461873	0.26394	T	0.0255662580769392	0.01347	T	0.734627	0.35069	T	0.05473593	0.10543	0.056546073	0.10123	0.05473593	0.10542	0.056546073	0.10123	-8.415	0.63864	D	.	.	0.064	0.01786	B	.	.	3.097729	0.41735	21.4	0.99498180288995397	0.67859	0.46456	0.27764	N	AEFDBCI	0.250059	0.37017	N	-0.294402600873162	0.29363	1.627718	-0.230348490284835	0.30455	1.714873	0.999970201239958	0.50053	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.99	1.98	0.25351	-0.057000	0.11726	0.320000	0.17174	0.676000	0.76740	0.729000	0.28913	0.936000	0.28664	0.960000	0.51673	0.2499:0.0:0.602:0.1481	4.706	0.12232	390	0.83257	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2723.98	45	chr9	131069768	.	G	A	2723.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=941;ExcessHet=0.0000;FS=1.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=1.80;SOR=0.567	GT:AD:DP:GQ:PL	0/1:115,111:226:99:2738,0,2681	20	0	1	0
chr9	131197342	131197342	C	T	exonic	NUP214	.	nonsynonymous SNV	NUP214:NM_001318325:exon4:c.C326T:p.T109I	Leukemia, T-cell acute lymphoblastic, somatic;Leukemia, acute myeloid, somatic	.	9	1512	1	0	0	1	0.000330579	.	.	2349975	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.919	P	0.59	P	0.810	N	1.000	N	0	N	1.44	T	-0.953	T	0.101	T	0.138	2.395	13.97	1.47	0.001	1.156	10.948	0.083	0.0042363863583	0.0003	0.000199681	0.0002	9.61e-05	0	0	0	0.0003	0	0	0.0001811	28	154602	rs34991189	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	0.0053	0	0	0.0007	1.529e-05	0.0004	0	0.0002	0.0002	0.0002	0.0001	2.94e-05	0.0001	9.694e-05	4.88e-06	1.83e-06	2.406e-05	0	0	0.0063	0	0	0	2.94e-05	0	0	0.006	0.65419	D	0.017	0.60337	D	0.328	0.50927	B	0.165	0.50460	B	0.810258	0.06823	N	1.112770	1	0.08975	N	1.79	0.46772	L	1.43	0.50721	T	-1.75	0.56301	N	0.035	0.03956	-0.9527	0.40503	T	0.101	0.37316	T	10	0.0050494075	0.00109	T	0.004236	0.10216	T	0.083	0.24192	.	.	0.329587890251	0.32573	0.1873614788857129	0.18654	0.107884987876	0.12170	0.316495239735	0.12890	T	0.266674	0.63865	T	-0.318565	0.07015	T	-0.513845	0.20920	T	0.0576843801804572	0.06799	T	0.615039	0.29028	T	0.04014586	0.05677	0.061323777	0.11821	0.047109235	0.07997	0.061690826	0.11954	-4.286	0.27980	T	.	.	0.104	0.35602	B	.;.;.;.;.	.;.;.;.;.	1.189263	0.15807	12.11	0.97526864248371303	0.34437	0.29158	0.23747	N	AEFDGBCI	0.138529	0.25985	N	-0.88959605051235	0.11089	0.5332812	-0.933915292116966	0.11297	0.5746696	0.999992930304381	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	1.47	0.21832	1.205000	0.31914	-0.012000	0.13046	0.599000	0.40250	0.005000	0.17040	0.000000	0.08366	0.003000	0.05239	0.0:0.5457:0.385:0.0693	10.948	0.46527	419	0.81524	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2526.98	34	chr9	131197342	.	C	T	2526.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.368;DP=901;ExcessHet=0.0000;FS=2.461;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=0.804;SOR=0.539	GT:AD:DP:GQ:PL	0/1:97,99:196:99:2541,0,2522	20	0	1	0
chr9	131275935	131275935	T	C	exonic	FAM78A	.	nonsynonymous SNV	FAM78A:NM_033387:exon1:c.A245G:p.K82R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.0	B	0.0	B	0.018	N	1.000	N	-0.35	N	.	.	-1.020	T	0.029	T	0.102	1.363	10.48	2.54	0.323	0.733	4.041	0.017	0.00312101719364	0.0002	.	4.173e-05	0.0004	8.669e-05	0	0	0	0	0	3.23e-05	5	154602	rs377297897	1.3e-05	1.3e-05	1.362e-05	1.238e-05	0.0005	8.32e-06	6.7e-06	0.0003	0.0003	0.0005	0	0	0	0	0	0	1.656e-05	0	0.0001	0.0001	0.0001	0.0002	0.0005	9.745e-05	8.259e-05	0.0004	0.0003	0.0005	0	0	0	0	0	0	0	0	0	0.84	0.02811	T	0.81	0.03945	T	0.0	0.02946	B	0.0	0.01387	B	0.018336	0.27508	N	0.426241	0.760252	0.29546	N	-0.28	0.03718	N	.	.	.	0.44	0.03243	N	0.056	0.02759	-1.0203	0.23616	T	0.029	0.12453	T	9	0.024574608	0.00681	T	0.003121	0.06786	T	0.017	0.02790	.	.	0.181679512989	0.17746	0.1697966208250045	0.16899	0.593514449534	0.54694	0.459738969803	0.33274	T	0.016647	0.13717	T	-0.480365	0.00735	T	-0.570303	0.15422	T	0.0306352768374656	0.02088	T	0.579642	0.20943	T	0.050399333	0.09098	0.046821333	0.06608	0.050399333	0.09098	0.046821333	0.06608	-3.549	0.17125	T	.	.	0.054	0.00354	B	.	.	2.284385	0.29215	18.05	0.96863277798129677	0.31388	0.77443	0.38077	D	ALL	0.218509	0.34351	N	-0.705996378080122	0.15852	0.8026257	-0.508849118461663	0.21913	1.187651	0.999999940018314	0.74766	0.676563	0.55306	0	0.52208	0.09955	0	0.673471	0.61138	0	0.56214	0.19341	0	.	.	4.88	2.54	0.29674	0.506000	0.22367	0.178000	0.15598	0.651000	0.53179	1.000000	0.71638	0.991000	0.31484	0.958000	0.51230	0.1516:0.1654:0.0:0.683	4.041	0.09234	371	0.84287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1182.98	36	chr9	131275935	.	T	C	1182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e-02;DP=785;ExcessHet=0.0000;FS=6.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.43;ReadPosRankSum=-4.590e-01;SOR=1.233	GT:AD:DP:GQ:PL	0/1:32,40:72:99:1197,0,829	20	0	1	0
chr9	131477809	131477809	A	C	exonic	PRRC2B	.	nonsynonymous SNV	PRRC2B:NM_001384823:exon16:c.A2390C:p.Y797S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	1.0	D	0.996	D	0.002	U	1.000	D	1.7	L	4.34	T	-1.012	T	0.023	T	0.691	1.542	11.11	3.83	0.854	3.128	10.077	0.168	0.0756518760706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.345	0.50809	T	0.999	0.77913	D	0.994	0.82059	D	0.001839	0.37892	U	0.000000	0.999991	0.58761	D	2.51	0.73131	M	4.27	0.02513	T	-3.84	0.77143	D	0.538	0.56748	-1.0121	0.26259	T	0.023	0.09923	T	10	0.4968025	0.61314	T	0.075652	0.72340	D	0.168	0.42943	0.398	0.42590	0.189391138174	0.18552	0.5554234286003399	0.55469	0.334470090131	0.35464	0.394221782684	0.24263	T	0.256347	0.62724	T	-0.0203787	0.48800	T	-0.267049	0.48118	T	0.565563093515402	0.35065	D	0.888211	0.61727	D	0.22264552	0.44868	0.2599565	0.51752	0.22264552	0.44868	0.2599565	0.51751	-0.649	0.00683	T	.	.	0.107	0.25364	B	.;.	.;.	2.287237	0.29252	18.06	0.94977512766355476	0.25913	0.76889	0.37748	D	AEFDGBHCI	0.134290	0.25425	N	-0.185495193858954	0.33738	1.917504	-0.330531401015791	0.27117	1.502536	0.999999733851306	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.98	3.83	0.43287	2.359000	0.43797	5.342000	0.48348	-0.054000	0.16847	0.028000	0.20300	1.000000	0.68203	0.110000	0.18741	0.9204:0.0:0.0796:0.0	10.077	0.41539	483	0.77230	.;.	.	.	.	.	.	Uncertain significance	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	0.1071	199.72	40	chr9	131477809	.	A	C	199.72	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-2.421e+00;DP=1077;ExcessHet=0.3300;FS=86.704;InbreedingCoeff=-0.1996;MLEAC=4;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.22;ReadPosRankSum=1.87;SOR=7.070	GT:AD:DP:GQ:PL	0/1:52,13:65:56:56,0,1186	11	0	3	7
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	1/2:0,52,48:100:99:2747,1390,1235,1358,0,1214	0	17	3	0
chr9	133208141	133208141	T	A	exonic	OBP2B	.	nonsynonymous SNV	OBP2B:NM_001288987:exon3:c.A269T:p.Y90F	.	.	654	836	30	2	0	34	0.0199297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.393	B	0.257	B	0.027	N	1.000	N	0.695	N	3.25	T	-0.959	T	0.012	T	0.248	-1.377	0.025	0.679	-0.219	-0.353	5.651	0.069	.	.	.	0.0079	0.0137	0.0018	0.0039	0.0052	0.0106	0.0048	0.0011	3.84e-05	1	26028	rs1413608059	0.0005	0.0049	0.0004	0.0007	0.0009	0.0005	0.0005	0.0007	0.0007	0.0003	0.0007	0.0004	0.0007	0.0023	0.0002	0.0004	0.0007	0.0009	0.0004	0.0040	0.0004	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	0.0002	0.0012	0.0002	0	0.0004	0.0004	0	0.0005	0.0010	0.0009	0.297	0.14645	T	0.337	0.18178	T	0.393	0.34680	B	0.257	0.39298	B	0.026576	0.25897	N	0.188123	1	0.19238	N	1.055	0.26876	L	3.25	0.06762	T	-2.4	0.52776	N	0.141	0.20262	-0.9592	0.39330	T	0.012	0.04795	T	10	0.0057539046	0.00128	T	.	.	.	0.069	0.20116	.	.	0.0297737177859	0.01360	0.3454499937520817	0.34458	0.164113916074	0.18517	0.433351457119	0.29667	T	0.033824	0.23072	T	-0.290422	0.09595	T	-0.654947	0.08611	T	0.0220651653645309	0.00916	T	0.417158	0.10968	T	0.052634977	0.09844	0.045453	0.06119	0.052634977	0.09844	0.045453	0.06119	-5.794	0.44522	T	.	.	0.071	0.11124	B	.;.;.	.;.;.	-0.024567	0.04115	0.974	0.14583370763224782	0.00327	0.00218	0.01233	N	AEFDBI	0.012910	0.00155	N	-1.56437998921638	0.01452	0.06336967	-1.64152865485638	0.01420	0.06421677	0.00212614337787241	0.09174	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	1.91	0.679	0.17141	-0.405000	0.07258	-1.122000	0.06265	-1.135000	0.01450	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2549:0.0:0.0:0.7451	5.651	0.16894	.	.	Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	728.29	13	chr9	133208141	.	T	A	728.29	.	AC=4;AF=0.100;AN=40;BaseQRankSum=0.587;DP=409;ExcessHet=0.7148;FS=3.670;InbreedingCoeff=-0.0039;MLEAC=4;MLEAF=0.100;MQ=55.70;MQRankSum=-4.259e+00;QD=8.28;ReadPosRankSum=0.216;SOR=0.315	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,11:28:99:0|1:133208118_G_C:323,0,534:133208118	16	0	4	1
chr9	133256235	133256235	T	-	exonic	ABO	.	unknown	UNKNOWN,	.	.	424	1075	23	0	0	23	0.0105844	.	.	2738108	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.00319489	0.0036	0.0005	0.0008	0	0.0005	0.0024	0.0035	0.0144	0.0006147	16	26028	rs563704490	0.0033	0.0033	0.0029	0.0037	0.0146	0.0033	0.0032	0.0140	0.0137	0.0002	0.0009	0	0	0.0003	0.0062	0.0030	0.0037	0.0146	0.0019	0.0019	0.0019	0.0020	0.0128	0.0017	0.0017	0.0103	0.0094	0.0005	0	0.0008	0	0.0002	0.0002	0.0068	0.0028	0.0014	0.0128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2270.94	45	chr9	133256234	.	GT	G	2270.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.616;DP=1065;ExcessHet=0.0000;FS=2.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.11;ReadPosRankSum=-3.860e-01;SOR=0.482	GT:AD:DP:GQ:PL	0/1:90,71:161:99:2285,0,3010	20	0	1	0
chr9	136383545	136383545	-	GCTGCT	exonic	SNAPC4	.	nonframeshift insertion	SNAPC4:NM_003086:exon15:c.1623_1624insAGCAGC:p.S542_E543insSS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6548.32	36	chr9	136383542	.	CGCT	C,CGCTGCTGCT	6548.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.600e-02;DP=974;ExcessHet=0.9430;FS=6.521;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=59.99;MQRankSum=0.00;QD=16.66;ReadPosRankSum=-6.600e-02;SOR=0.992	GT:AD:DP:GQ:PL	0/1:52,5,0:57:54:54,0,2129,210,2144,2355	13	1	6	0
chr9	136858763	136858763	C	T	exonic	MAMDC4	.	nonsynonymous SNV	MAMDC4:NM_206920:exon23:c.C2866T:p.R956W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.984	D	0.557	N	0.994	N	2.255	M	4.46	T	-1.068	T	0.029	T	0.521	3.483	17.82	5.05	2.355	1.360	11.309	0.145	0.151278191275	.	.	0.0001	0	0	0	0	1.642e-05	0	0.0007	7.76e-05	12	154602	rs764314823	7.678e-05	7.73e-05	6.412e-05	8.957e-05	0.0007	6.504e-05	6.083e-05	0.0006	0.0005	0.0002	0	0	2.521e-05	0	0	3.06e-05	0.0001	0.0007	6.568e-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	0.004	0.65419	D	0.004	0.74150	D	1.0	0.90584	D	0.921	0.76113	D	0.557189	0.11374	N	0.733946	0.994415	0.23523	N	2.235	0.63160	M	4.46	0.02102	T	-2.85	0.64710	D	0.526	0.55626	-1.0684	0.09768	T	0.029	0.12365	T	10	0.43270752	0.57594	T	0.151278	0.83286	D	0.159	0.41286	0.647	0.78436	0.419335720491	0.41547	0.2870279637104598	0.28615	0.178256810229	0.20055	0.470365345478	0.34730	T	0.014433	0.12290	T	-0.372141	0.03487	T	-0.396486	0.33795	T	0.4771748483181	0.31794	T	0.855414	0.57175	D	0.13685507	0.31710	0.12971517	0.31184	0.13685507	0.31709	0.12971517	0.31183	-7.005	0.54070	T	.	.	0.132	0.28464	B	.;.	.;.	4.182018	0.62963	24.5	0.9991610548503882	0.98379	0.17322	0.19787	N	AEFDBCI	0.280451	0.39427	N	0.371315652482458	0.59874	4.170523	0.264280921607086	0.53467	3.51538	0.9999999743141	0.74766	0.676195	0.55175	0	0.550933	0.16991	0	0.564498	0.18976	0	0.664235	0.64389	0	.	.	5.05	5.05	0.67566	1.560000	0.35939	4.660000	0.44233	0.599000	0.40250	0.025000	0.20085	0.999000	0.35428	0.138000	0.19872	0.2922:0.7078:0.0:0.0	11.309	0.48592	958	0.09170	.;MAM domain|MAM domain|MAM domain|MAM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1364.98	39	chr9	136858763	.	C	T	1364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=893;ExcessHet=0.0000;FS=2.420;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=1.45;SOR=0.473	GT:AD:DP:GQ:PL	0/1:62,52:114:99:1379,0,1537	20	0	1	0
chr9	138023729	138023729	A	0	exonic	CACNA1B	.	.	.	.	.	350	755	29	2	386	419	0.0213869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1289.72	63	chr9	138023729	.	A	G,*	1289.72	.	AC=2,13;AF=0.048,0.310;AN=42;BaseQRankSum=-4.590e-01;DP=1294;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=2,13;MLEAF=0.048,0.310;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=2.42;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:39,0,28:67:99:.:.:1028,1145,2714,0,1569,1484	7	0	2	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	0/1:109,42:151:99:135,0,1728	5	0	16	0
chr10	7248643	7248643	C	T	exonic	SFMBT2	.	nonsynonymous SNV	SFMBT2:NM_001018039:exon8:c.G877A:p.A293T	.	.	430	1049	41	2	0	45	0.0209986	.	.	724060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.59	T	0.993	D	0.889	P	0.263	N	1.000	D	2.015	M	0.92	T	-0.818	T	0.206	T	0.694	2.762	15.20	5.4	2.519	3.977	19.184	0.237	.	0.0035	0.00459265	0.0053	0.0016	0.0017	0	0.0006	0.0048	0.0078	0.0171	0.0049547	766	154602	rs117741182	0.0036	0.0036	0.0031	0.0041	0.0174	0.0035	0.0035	0.0166	0.0163	0.0008	0.0018	0.0051	2.519e-05	0.0006	0.0168	0.0028	0.0043	0.0174	0.0027	0.0027	0.0025	0.0028	0.0164	0.0025	0.0024	0.0135	0.0124	0.0006	0.0011	0.0020	0.0058	0	0.0005	0.0136	0.0034	0.0038	0.0164	0.421	0.09806	T	0.429	0.13752	T	0.993	0.65571	D	0.889	0.63100	P	0.263242	0.03723	N	1.458410	1	0.81001	D	2.25	0.63811	M	0.92	0.44461	T	-0.81	0.22294	N	0.62	0.63544	-0.8181	0.54053	T	0.206	0.56512	T	10	0.0093427	0.00211	T	.	.	.	0.237	0.54074	.	.	0.193917141947	0.19028	0.3119682848669579	0.31109	0.580245724104	0.53879	0.460799157619	0.33420	T	0.012519	0.10987	T	-0.328422	0.06231	T	-0.230906	0.51684	T	0.0225845717062435	0.00975	T	0.778122	0.41194	T	0.1463249	0.33502	0.096215524	0.22852	0.1463249	0.33502	0.096215524	0.22851	-5.141	0.38336	T	.	.	0.086	0.10691	B	.;.	.;.	3.395496	0.47037	22.4	0.992965443619932	0.58469	0.85763	0.44932	D	AEFDBCI	0.658062	0.62947	D	0.506294479907282	0.67460	5.084768	0.497719078246809	0.67837	5.13802	0.999999940766446	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	4.043000	0.57065	4.877000	0.45627	-0.175000	0.10903	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	0.0:1.0:0.0:0.0	19.184	0.93622	944	0.12746	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2667.11	35	chr10	7248643	.	C	T	2667.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.01;DP=905;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-9.900e-02;SOR=0.685	GT:AD:DP:GQ:PL	0/1:55,64:119:99:1582,0,1208	19	0	2	0
chr10	16925418	16925418	T	C	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon43:c.A6469G:p.N2157D,	Megaloblastic anemia-1, Finnish type, Autosomal recessive	.	1	1505	15	1	0	17	0.00561612	.	.	684155	Imerslund-Grasbeck_syndrome|See_cases|Imerslund-Grasbeck_syndrome_type_1|not_provided	MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858|.|MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.5	T	1.0	D	0.99	D	0.000	D	1.000	D	0.505	N	2.05	T	-1.091	T	0.053	T	0.53	3.589	18.28	5.32	2.241	7.281	15.441	0.322	.	0.0054	0.00319489	0.0056	0.0012	0.0044	0	0.0144	0.0071	0.0077	0.0025	0.005181	801	154602	rs144360241	0.0052	0.0052	0.0051	0.0053	0.0205	0.0051	0.0050	0.0175	0.0163	0.0008	0.0031	0.0066	0	0.0134	0.0205	0.0053	0.0051	0.0026	0.0053	0.0053	0.0053	0.0053	0.0065	0.0050	0.0048	0.0060	0.0058	0.0012	0	0.0052	0.0063	0	0.0173	0.0170	0.0065	0.0061	0.0019	0.217	0.19157	T	0.031	0.53788	D	1.0	0.90584	D	0.99	0.78936	D	0.000117	0.50451	D	0.000000	0.998513	0.45021	D	0.43	0.12624	N	2.05	0.20664	T	-4.22	0.75854	D	0.77	0.76760	-1.0915	0.05286	T	0.053	0.22501	T	10	0.020251662	0.00464	T	.	.	.	0.322	0.64420	.	.	0.618957995044	0.61587	0.7563220409290017	0.75580	0.468211300849	0.46174	0.475276261568	0.35408	T	0.232793	0.59944	T	-0.418902	0.01738	T	-0.370774	0.36798	T	0.0130285042958418	0.00227	T	0.661134	0.27033	T	0.41620767	0.61839	0.4079235	0.65124	0.41620767	0.61839	0.4079235	0.65124	-5.39	0.40823	T	0.4753071230537675	0.55498	0.240	0.47459	B	.	.	3.512344	0.49190	22.7	0.9978035496376344	0.86693	0.99506	0.96851	D	AEFBI	0.866429	0.78585	D	0.425530577525167	0.62831	4.50557	0.457775295356004	0.65217	4.796047	0.999993809970639	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	7.201000	0.77364	5.041000	0.46911	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:0.0:1.0	15.441	0.74911	803	0.44167	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	1	0	0	0	0	0	0	0	0	0	0	0.02381	1341.98	69	chr10	16925418	.	T	C	1341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.062e+00;DP=1375;ExcessHet=0.0000;FS=0.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.90;MQRankSum=-9.700e-01;QD=13.29;ReadPosRankSum=-9.110e-01;SOR=0.810	GT:AD:DP:GQ:PL	0/1:50,51:101:99:1356,0,1338	20	0	1	0
chr10	25572771	25572771	C	T	exonic	GPR158	.	nonsynonymous SNV	GPR158:NM_020752:exon7:c.C1637T:p.S546L,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.277	B	0.411	B	0.014	N	1.000	D	1.04	L	-2.14	D	-0.292	T	0.534	D	0.744	3.545	18.09	5.78	2.736	7.818	13.248	0.507	0.0548278684697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.841e-07	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.16683	T	0.301	0.20293	T	0.277	0.31978	B	0.411	0.44827	B	0.013743	0.28743	N	0.300130	0.999879	0.50225	D	1.53	0.38800	L	-2.14	0.86415	D	-1.12	0.28906	N	0.768	0.76573	-0.2918	0.75215	T	0.534	0.82753	D	10	0.60074055	0.66897	D	0.054828	0.66003	D	0.507	0.78786	0.591	0.71999	0.278932316844	0.27492	0.7261214462571747	0.72556	0.124840994867	0.14065	0.50876224041	0.40049	T	0.090776	0.38657	T	0.188167	0.72795	D	0.0325125	0.72441	D	0.875440895557404	0.52531	D	0.931007	0.74365	D	0.14532539	0.33318	0.14477456	0.34359	0.14532539	0.33317	0.14477456	0.34358	-9.396	0.70210	D	.	.	0.073	0.14979	B	.;.	.;.	4.421288	0.68481	25.2	0.99790499439940838	0.87661	0.98017	0.78904	D	AEFI	0.845175	0.76210	D	0.18576858990655	0.50516	3.240833	0.357466119751831	0.58957	4.069875	0.991517645519761	0.32514	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.78	5.78	0.91418	6.140000	0.71491	4.872000	0.45577	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9275:0.0:0.0724	13.248	0.59460	883	0.28872	.;GPCR family 3, C-terminal|GPCR family 3, 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	2474.98	35	chr10	25572771	.	C	T	2474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.587e+00;DP=892;ExcessHet=0.0000;FS=1.157;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=-2.670e-01;SOR=0.584	GT:AD:DP:GQ:PL	0/1:81,104:185:99:2489,0,2123	20	0	1	0
chr10	26219214	26219214	C	A	exonic	GAD2	.	nonsynonymous SNV	GAD2:NM_000818:exon4:c.C458A:p.P153Q	.	.	428	1078	16	0	0	16	0.00736648	.	.	712309	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.999	D	0.000	D	1.000	D	2.905	M	1.08	T	-0.284	T	0.336	T	0.753	4.744	26.5	5.61	2.621	7.487	19.644	0.447	.	0.0055	0.00279553	0.0061	0.0016	0.0014	0	0.0126	0.0085	0.0022	0.0030	0.006009	929	154602	rs2839672	0.0067	0.0068	0.0068	0.0067	0.0076	0.0066	0.0066	0.0075	0.0074	0.0009	0.0015	0.0035	2.521e-05	0.0098	0.0021	0.0076	0.0059	0.0033	0.0052	0.0052	0.0053	0.0051	0.0080	0.0049	0.0048	0.0075	0.0072	0.0011	0.0175	0.0020	0.0037	0.0002	0.0108	0.0034	0.0080	0.0033	0.0037	0.014	0.53172	D	0.019	0.59159	D	0.991	0.64070	D	0.852	0.60758	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.025	0.86340	M	1.08	0.39401	T	-4.58	0.78807	D	0.804	0.79986	-0.2836	0.75442	T	0.336	0.70240	T	10	0.009708941	0.00218	T	.	.	.	0.447	0.74866	.	.	0.592885698768	0.58965	0.8913585188844813	0.89105	1.15829965559	0.79406	0.628985524178	0.57000	T	0.812563	0.95331	D	-0.155418	0.27467	T	0.0143647	0.71265	D	0.0168037882224415	0.00435	T	0.956904	0.88371	D	0.7838858	0.82893	0.7812087	0.87103	0.7838858	0.82895	0.7812087	0.87104	-9.146	0.68632	D	.	.	0.730	0.74185	P	.;.;.	.;.;.	5.013893	0.83284	28.0	0.99249905503777203	0.56825	0.98686	0.85574	D	AEFBI	0.957131	0.97612	D	0.887826233389038	0.91152	10.74023	0.85406466692396	0.93253	11.92113	0.999999999992282	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	5.61	5.61	0.85347	7.568000	0.81546	7.628000	0.62604	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.644	0.95762	666	0.61362	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1576.98	34	chr10	26219214	.	C	A	1576.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.781e+00;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=0.130;SOR=0.693	GT:AD:DP:GQ:PL	0/1:50,63:113:99:1591,0,1303	20	0	1	0
chr10	35608459	35608459	C	T	exonic	GJD4	.	stopgain	GJD4:NM_153368:exon2:c.C946T:p.R316X,	.	.	389	1117	16	0	0	16	0.00711111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	.	.	.	.	0.000	N	1.000	D	.	.	.	.	.	.	.	.	.	3.840	19.50	-1.0	-0.512	-1.285	4.33	.	.	0.0002	0.00339457	0.0100	0.0008	0	0.0035	0	0.0009	0.0070	0.0177	0.0013907	215	154602	rs370286081	0.0011	0.0011	0.0006	0.0016	0.0166	0.0011	0.0010	0.0158	0.0155	3.167e-05	0.0001	0.0014	0	0	0.0025	0.0001	0.0008	0.0166	0.0006	0.0006	0.0004	0.0009	0.0160	0.0005	0.0005	0.0131	0.0121	4.813e-05	0	6.533e-05	0.0014	0	0	0.0034	0.0001	0.0009	0.0160	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.00162	N	16.739100	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.037	0.01135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0100462	0.53031	T	0.25528	0.85871	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	4.485263	0.70018	25.5	0.94085139123831973	0.24237	0.03258	0.08289	N	AEFDBI	0.038770	0.05535	N	-0.460139965595024	0.23397	1.256195	-0.836841060364474	0.13604	0.7066289	0.998718434702171	0.37518	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.554799	0.18163	0	.	.	4.28	-1.0	0.09675	-3.702000	0.00436	-0.020000	0.12938	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.061000	0.16044	0.5513:0.1735:0.2752:0.0	4.33	0.10498	733	0.53988	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	460.98	33	chr10	35608459	.	C	T	460.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=749;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=-9.970e-01;SOR=0.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,18:36:99:0|1:35608459_C_T:475,0,338:35608459	20	0	1	0
chr10	45445628	45445628	A	C	exonic	ALOX5	.	nonsynonymous SNV	ALOX5:NM_001256154:exon13:c.A1795C:p.K599Q	.	.	425	1084	13	0	0	13	0.00596057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	1.0	D	0.992	D	0.000	D	1.000	D	1.495	L	-1.08	T	-0.231	T	0.500	T	0.477	4.142	21.4	5.44	2.288	7.334	13.502	0.476	0.0527487842225	0.0023	0.00239617	0.0016	0.0050	0.0019	0.0005	0.0002	0.0007	0.0022	0.0039	0.0014812	229	154602	rs140481567	0.0012	0.0012	0.0012	0.0012	0.0053	0.0011	0.0011	0.0047	0.0044	0.0053	0.0010	0.0002	0.0008	0.0001	0.0016	0.0009	0.0013	0.0040	0.0019	0.0019	0.0020	0.0019	0.0054	0.0017	0.0017	0.0041	0.0039	0.0046	0	0.0010	0.0003	0.0004	0	0.0034	0.0007	0.0033	0.0054	0.029	0.55530	D	0.085	0.41405	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.01	0.25309	L	-1.08	0.77078	T	-1.22	0.31170	N	0.441	0.47949	-0.2311	0.76858	T	0.500	0.81101	T	10	0.0048487186	0.00103	T	0.052749	0.65193	D	0.476	0.76816	.	.	0.870600292467	0.86933	0.763350267390799	0.76283	0.446155826543	0.44492	0.476433992386	0.35566	T	0.336634	0.70612	T	-0.266477	0.12154	T	-0.153772	0.58908	T	0.0250310452366018	0.01277	T	.	.	.	0.5999008	0.72686	0.36787856	0.62089	0.5999008	0.72687	0.36787856	0.62088	-3.926	0.22693	T	.	.	0.113	0.26855	B	.;.	.;.	3.570297	0.50282	22.9	0.99392303818643579	0.62383	0.94543	0.61507	D	AEFDBCIJ	0.940735	0.94308	D	0.597384865930969	0.73009	5.896884	0.620012253222176	0.76393	6.482988	0.999999999118198	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.44	5.44	0.79348	6.184000	0.71943	7.020000	0.57263	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.502	0.60917	861	0.33516	.;Lipoxygenase, C-terminal|Lipoxygenase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1534.98	33	chr10	45445628	.	A	C	1534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.382;DP=873;ExcessHet=0.0000;FS=2.158;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.823;SOR=0.524	GT:AD:DP:GQ:PL	0/1:78,60:138:99:1549,0,2192	20	0	1	0
chr10	49941655	49941655	G	T	exonic	PARG	.	nonsynonymous SNV	PARG:NM_001303489:exon1:c.C67A:p.L23M	.	.	422	1096	3	1	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.895	0.22405	L	.	.	.	.	.	.	0.428	0.47301	.	.	.	.	.	.	.	0.2555147	0.42945	T	.	.	.	.	.	.	.	0.516437024119	0.51285	0.2592680094765649	0.25840	.	.	0.700207591057	0.67172	T	0.077559	0.35683	T	0.117805	0.66150	D	-0.0685573	0.65728	T	.	.	.	0.69643	0.30590	T	0.17580822	0.38460	0.28754258	0.54766	0.17580822	0.38460	0.28754258	0.54765	-5.3	0.39943	T	.	.	0.214	0.44319	B	.;.	.;.	3.379309	0.46730	22.3	0.96831458917015978	0.31267	0.22870	0.21890	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.998818973699701	0.37733	0.162113	0.03585	0	0.18701	0.04157	0	0.183335	0.04453	0	0.101684	0.03063	0	0.761766	0.45168	2.57	2.57	0.29928	2.384000	0.44017	4.321000	0.42998	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	10.399	0.43404	756	0.51065	.;.	.	.	.	.	.	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	1220.98	41	chr10	49941655	.	G	T	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.300e-02;DP=807;ExcessHet=0.0000;FS=5.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.14;MQRankSum=-7.350e-01;QD=12.99;ReadPosRankSum=0.076;SOR=1.264	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1235,0,1308	20	0	1	0
chr10	70600805	70600805	C	T	exonic	PRF1	.	nonsynonymous SNV	PRF1:NM_001083116:exon2:c.G98A:p.R33H	Aplastic anemia;Hemophagocytic lymphohistiocytosis, familial, 2, Autosomal recessive;Lymphoma, non-Hodgkin	.	.	.	.	.	.	.	.	.	.	639121	Lymphoma,_non-Hodgkin,_familial|Familial_hemophagocytic_lymphohistiocytosis_2|Aplastic_anemia	MONDO:MONDO:0011508,MedGen:C4721532,OMIM:605027|MONDO:MONDO:0011337,MedGen:C1863727,OMIM:603553,Orphanet:540|Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.003	B	0.001	B	0.434	N	1.000	N	1.95	M	-2.83	D	-0.497	T	0.602	D	0.077	1.883	12.26	-2.79	-0.590	-0.082	3.430	0.197	0.0736368969609	.	0.000199681	0.0001	0.0001	0	0.0002	0	0.0001	0	6.717e-05	8.41e-05	13	154602	rs531407289	4.249e-05	4.309e-05	3.544e-05	4.961e-05	0.0004	3.382e-05	3.07e-05	0.0003	0.0002	2.988e-05	4.488e-05	0	0.0004	0	0	2.701e-05	6.64e-05	9.305e-05	3.283e-05	3.281e-05	5.138e-05	1.343e-05	0.0002	1.26e-05	7.97e-06	1.972e-05	1.124e-05	0	0	0	0	0.0002	0	0	5.88e-05	0	0	0.03	0.45393	D	0.141	0.33442	T	0.003	0.11197	B	0.001	0.04355	B	0.434141	0.04721	N	1.310930	1	0.08975	N	1.845	0.48678	L	-2.83	0.91249	D	-1.16	0.29727	N	0.127	0.12055	-0.4969	0.68761	T	0.602	0.85825	D	10	0.03486827	0.01711	T	0.073637	0.71841	D	0.197	0.47942	.	.	0.69908367177	0.69648	0.5317319199331124	0.53098	0.138196012409	0.15579	0.24595426023	0.03353	T	0.298597	0.67115	T	-0.375056	0.03346	T	-0.433788	0.29507	T	0.0134194601236397	0.00244	T	0.59944	0.22338	T	0.028370772	0.02164	0.03168411	0.01792	0.028246453	0.02134	0.030464431	0.01506	-3.999	0.23789	T	0.4037207272633805	0.49512	0.100	0.16973	B	.;.;.	.;.;.	0.540016	0.09088	5.869	0.95777417033416823	0.27794	0.03045	0.07938	N	AEFDGBHCI	0.049164	0.08465	N	-1.21055970961267	0.04844	0.2195582	-1.29302513268529	0.04524	0.2135892	0.999999269799378	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	5.7	-2.79	0.05494	0.093000	0.14925	-3.479000	0.02755	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.156000	0.20513	0.125:0.1823:0.1236:0.5691	3.430	0.06995	493	0.76500	.;Membrane attack complex component/perforin (MACPF) domain;Membrane attack complex component/perforin (MACPF) 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	1288.98	36	chr10	70600805	.	C	T	1288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.37;DP=836;ExcessHet=0.0000;FS=2.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=1.41;SOR=0.976	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1303,0,1077	20	0	1	0
chr10	73240981	73240981	G	0	exonic	FAM149B1	.	.	.	.	.	431	911	149	5	26	185	0.0802625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11177.05	95	chr10	73240981	.	G	A,*	11177.05	.	AC=10,2;AF=0.238,0.048;AN=42;BaseQRankSum=1.81;DP=1346;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=10,2;MLEAF=0.238,0.048;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.347;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,42,0:105:99:.:.:1067,0,1430,1255,1556,2811	11	2	6	0
chr10	79291160	79291160	G	A	exonic	ZMIZ1	.	nonsynonymous SNV	ZMIZ1:NM_020338:exon10:c.G742A:p.G248R,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	1.0	D	0.001	D	1.000	D	1.39	L	1.09	T	-0.767	T	0.283	T	0.928	3.794	19.26	5.67	2.681	9.476	19.767	0.274	0.0982107984803	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937190331	4.801e-06	4.788e-06	6.818e-06	2.76e-06	2.991e-05	2e-06	1.28e-06	1.32e-06	9.6e-07	2.991e-05	0	0	0	1.89e-05	0	4.507e-06	0	0	1.313e-05	1.313e-05	2.569e-05	0	4.822e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.822e-05	0	0	0	0	0	0	0	0	0	0.034	0.44029	D	0.327	0.18732	T	0.997	0.70673	D	0.895	0.63489	P	0.000752	0.42006	D	0.000000	1	0.81001	D	2.52	0.73523	M	1.09	0.39223	T	-1.37	0.33998	N	0.947	0.95491	-0.7672	0.57011	T	0.283	0.65458	T	10	0.7360254	0.74626	D	0.098211	0.76903	D	0.274	0.59007	0.245	0.17984	0.27064940482	0.26676	0.8676755620296555	0.86732	1.65579666968	0.89614	0.822576999664	0.85423	D	0.22085	0.58425	T	0.144308	0.68733	D	0.152903	0.80368	D	0.653227567672729	0.38601	D	0.939006	0.77019	D	0.07716423	0.17496	0.12074219	0.29137	0.07716423	0.17495	0.12074219	0.29136	-5.225	0.39195	T	0.550429591385756	0.61909	0.780	0.76353	P	.	.	5.314380	0.89205	29.9	0.9984248630314293	0.92316	0.99158	0.92083	D	AEFDBI	0.928479	0.91275	D	0.381921865354193	0.60441	4.233217	0.463633177895427	0.65597	4.843921	0.999999999999995	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	9.602000	0.97623	9.996000	0.83014	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.607000	0.31564	0.0:0.0:1.0:0.0	19.767	0.96341	886	0.28090	.	.	.	.	.	.	Uncertain significance	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	780.98	34	chr10	79291160	.	G	A	780.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=751;ExcessHet=0.0000;FS=4.332;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.02;ReadPosRankSum=0.728;SOR=0.285	GT:AD:DP:GQ:PL	0/1:23,29:52:99:795,0,602	20	0	1	0
chr10	93359891	93359891	C	T	exonic	MYOF	.	nonsynonymous SNV	MYOF:NM_133337:exon28:c.G3023A:p.R1008Q	.	.	429	1090	3	0	0	3	0.00137426	.	.	2364553	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.961	D	0.000	D	1.000	D	3.035	M	-2.72	D	0.919	D	0.872	D	0.511	4.940	28.7	5.36	2.797	2.888	19.275	0.632	0.179128344014	8.2e-05	.	5.796e-05	0.0001	0.0002	0	0	5.993e-05	0	0	4.53e-05	7	154602	rs375030658	6.362e-05	6.43e-05	5.989e-05	6.738e-05	0.0009	5.294e-05	4.911e-05	0.0003	0.0002	5.974e-05	0.0002	0	0	0	0.0009	6.475e-05	1.656e-05	5.797e-05	7.23e-05	7.224e-05	0.0001	4.037e-05	0.0001	3.972e-05	3.128e-05	3.761e-05	2.575e-05	4.828e-05	0	0.0001	0	0	0	0	8.819e-05	0.0005	0	0.002	0.72154	D	0.004	0.74150	D	0.998	0.73220	D	0.961	0.70482	D	0.000002	0.62929	D	0.056748	0.999634	0.51042	D	3.135	0.88152	M	-2.73	0.90679	D	-3.36	0.66549	D	0.481	0.51583	0.919	0.95938	D	0.872	0.95728	D	10	0.5152536	0.62328	D	0.179128	0.85402	D	0.632	0.85872	.	.	0.946293507838	0.94572	0.8263966383472687	0.82597	0.576477160469	0.53601	0.570311069489	0.48721	T	0.579339	0.86200	D	-0.0148606	0.49581	T	-0.00407677	0.70072	D	0.888023257255554	0.53858	D	0.994912	0.98266	D	0.6591474	0.75853	0.51893735	0.72205	0.6591474	0.75854	0.51893735	0.72206	-10.422	0.76398	D	.	.	0.336	0.55603	B	.;.	.;.	4.880043	0.80021	27.2	0.99949069887582298	0.99931	0.91265	0.53185	D	AEFBI	0.369748	0.45636	N	0.758359698567639	0.83450	8.020288	0.711659295013852	0.83265	7.976407	0.999997488087667	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.36	5.36	0.76624	2.884000	0.48261	5.960000	0.51806	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.275	0.94015	572	0.70300	.;Peroxin/Ferlin 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	2650.98	33	chr10	93359891	.	C	T	2650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.930e-01;DP=901;ExcessHet=0.0000;FS=2.575;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=2.79;SOR=0.557	GT:AD:DP:GQ:PL	0/1:79,105:184:99:2665,0,1883	20	0	1	0
chr10	95711957	95711957	A	G	exonic	ENTPD1	.	startloss	ENTPD1:NM_001098175:exon1:c.A1G:p.M1?,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.011	B	0.043	B	.	.	1.000	N	.	.	2.99	T	-0.984	T	0.022	T	0.239	0.003	4.029	0.458	0.454	0.268	.	0.050	0.0258532624206	.	.	.	.	.	.	.	.	.	.	.	.	.	rs919503156	1.027e-05	1.026e-05	1.09e-05	9.633e-06	2.99e-05	6.17e-06	4.89e-06	5.75e-06	4.55e-06	2.99e-05	0	0	2.519e-05	0	0	1.079e-05	1.658e-05	0	3.349e-05	0.0008	5.229e-05	1.374e-05	7.396e-05	1.279e-05	8.11e-06	1.961e-05	1.043e-05	7.396e-05	0	0	0	0	0	0	2.982e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.011	0.15914	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	.	.	.	2.99	0.09262	T	-0.01	0.07155	N	0.636	0.64903	-0.9843	0.33998	T	0.022	0.09147	T	7	0.9436738	0.93692	D	0.025853	0.48797	D	0.050	0.13987	0.995	0.99946	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.356997	0.04303	T	-0.581449	0.14417	T	0.0875836804388688	0.10928	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	-5.549	0.42324	T	.	.	.	.	.	.	.	1.019411	0.13987	10.55	0.53643955591518877	0.04980	0.00569	0.02581	N	AEFGBI	0.012711	0.00146	N	-0.881114104686083	0.11293	0.5441785	-1.01454963048692	0.09465	0.471041	0.00272844770582347	0.09662	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.458	0.458	0.15882	0.267000	0.18318	.	.	0.300000	0.18932	0.266000	0.25007	0.945000	0.28875	0.278000	0.23967	.	.	.	788	0.46569	.	.	.	.	.	.	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	0.1389	323.39	32	chr10	95711957	.	A	G	323.39	.	AC=5;AF=0.139;AN=36;BaseQRankSum=1.70;DP=633;ExcessHet=1.1607;FS=22.468;InbreedingCoeff=-0.1784;MLEAC=5;MLEAF=0.139;MQ=57.80;MQRankSum=-5.093e+00;QD=2.34;ReadPosRankSum=0.645;SOR=3.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,5:31:99:0|1:95711925_A_T:132,0,1077:95711925	13	0	5	3
chr10	95711959	95711959	G	C	exonic	ENTPD1	.	startloss	ENTPD1:NM_001098175:exon1:c.G3C:p.M1?,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.011	B	0.043	B	.	.	1.000	N	.	.	2.97	T	-0.985	T	0.022	T	0.301	0.321	5.743	0.458	0.538	0.278	.	0.055	0.0243099664364	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433519358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0008	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.011	0.15914	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	.	.	.	2.97	0.09450	T	0.0	0.07008	N	0.693	0.69825	-0.9851	0.33808	T	0.022	0.09193	T	7	0.94950134	0.94283	D	0.02431	0.47297	T	0.055	0.15663	0.993	0.99924	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.217906	0.18280	T	-0.550783	0.17250	T	0.141772925853729	0.16427	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	-5.73	0.43959	T	.	.	.	.	.	.	.	0.932069	0.13072	9.577	0.96361290402127009	0.29550	0.00779	0.03201	N	AEFGBI	0.011946	0.00117	N	-0.858725517021361	0.11836	0.5734107	-0.993793893458475	0.09924	0.4966357	0.00285753038931223	0.09753	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.458	0.458	0.15882	0.280000	0.18550	.	.	0.272000	0.18543	0.255000	0.24900	0.876000	0.27648	0.265000	0.23644	.	.	.	788	0.46569	.	.	.	.	.	.	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	0.1389	404.05	34	chr10	95711959	.	G	C	404.05	.	AC=5;AF=0.139;AN=36;BaseQRankSum=0.673;DP=644;ExcessHet=1.1607;FS=19.869;InbreedingCoeff=-0.1851;MLEAC=6;MLEAF=0.167;MQ=57.78;MQRankSum=-5.316e+00;QD=2.87;ReadPosRankSum=0.611;SOR=2.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,5:31:99:0|1:95711925_A_T:132,0,1077:95711925	13	0	5	3
chr10	95711966	95711966	-	C	exonic	ENTPD1	.	frameshift insertion	ENTPD1:NM_001098175:exon1:c.11dupC:p.K5Qfs*11,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1353731498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.585e-06	0.0008	0	1.349e-05	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	370.88	34	chr10	95711966	.	A	AC	370.88	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.21;DP=666;ExcessHet=0.6776;FS=17.575;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.06;MQRankSum=-5.316e+00;QD=3.07;ReadPosRankSum=0.238;SOR=2.880	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,4:31:87:0|1:95711925_A_T:87,0,1122:95711925	17	0	4	0
chr10	95711973	95711973	A	-	exonic	ENTPD1	.	frameshift deletion	ENTPD1:NM_001098175:exon1:c.17delA:p.D6Afs*2,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs146056164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.601e-06	0.0018	0	1.351e-05	2.42e-05	0	0	.	.	2.42e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	686.4	34	chr10	95711972	.	GA	G	686.4	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.485;DP=713;ExcessHet=1.1607;FS=0.739;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=57.11;MQRankSum=-5.587e+00;QD=4.09;ReadPosRankSum=0.00;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,6:33:99:0|1:95711925_A_T:148,0,1116:95711925	16	0	5	0
chr10	95711979	95711979	C	G	exonic	ENTPD1	.	nonsynonymous SNV	ENTPD1:NM_001098175:exon1:c.C23G:p.T8R,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.087	B	0.018	B	.	.	1.000	N	.	.	2.85	T	-0.985	T	0.019	T	0.082	-0.732	0.871	-0.916	-0.340	0.235	.	0.018	0.00180847012655	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776554101	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0025	0.0001	0.0001	0.0001	6.73e-05	5.499e-05	6.466e-05	4.42e-05	0.0001	0	0	0	0	0.0002	0	0.0001	0.0005	0	0.116	0.28395	T	0.189	0.28575	T	0.087	0.24971	B	0.018	0.18489	B	.	.	.	.	1	0.08975	N	.	.	.	2.85	0.10578	T	-0.03	0.07444	N	0.159	0.16586	-0.9848	0.33879	T	0.019	0.07800	T	7	0.056895226	0.06450	T	0.001808	0.03115	T	0.018	0.03083	0.201	0.11522	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.364491	0.03883	T	-0.761343	0.03064	T	0.0465263334017623	0.04879	T	0.39886	0.10126	T	.	.	.	.	.	.	.	.	-3.096	0.11250	T	.	.	0.083	0.09191	B	.	.	0.323582	0.06979	3.532	0.70516184951874417	0.09321	0.00278	0.01504	N	AEFGBI	0.034974	0.04426	N	-1.1441077205401	0.05877	0.2691008	-1.29943115007538	0.04439	0.2093725	0.00278882824345698	0.09705	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.458	-0.916	0.09956	0.236000	0.17745	.	.	0.245000	0.18292	0.167000	0.23894	0.053000	0.21875	0.081000	0.17303	.	.	.	788	0.46569	.	.	.	.	.	.	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	0.1389	722.94	38	chr10	95711979	.	C	G	722.94	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-8.280e-01;DP=756;ExcessHet=1.1607;FS=1.533;InbreedingCoeff=-0.1834;MLEAC=6;MLEAF=0.167;MQ=57.11;MQRankSum=-5.592e+00;QD=4.15;ReadPosRankSum=-2.350e-01;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,6:33:99:0|1:95711925_A_T:148,0,1095:95711925	13	0	5	3
chr10	95992634	95992634	T	C	exonic	CC2D2B	.	nonsynonymous SNV	CC2D2B:NM_001349008:exon22:c.T2579C:p.I860T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1268421578	1.109e-05	9.577e-06	8.754e-06	1.37e-05	1.304e-05	5.91e-06	4.67e-06	6.95e-06	5.49e-06	0	0	0	0	0	0	1.304e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38910407	0.54760	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.949005	0.80370	D	0.17826357	0.38836	0.4660001	0.69013	0.17826357	0.38836	0.4660001	0.69014	.	.	.	.	.	0.507	0.64884	A	.;.	.;.	3.602360	0.50884	23.0	0.86695113671423352	0.16710	0.90602	0.51914	D	AEFBI	.	.	.	.	.	.	.	.	.	0.600986303551462	0.21725	0.078448	0.01964	0	0.097471	0.02872	0	0.060301	0.00762	0	0.058706	0.01089	0	0.919074	0.58275	5.79	5.79	0.91751	4.036000	0.57015	.	.	0.665000	0.62972	0.984000	0.35821	0.999000	0.35428	0.906000	0.44173	0.0:0.0:0.0:1.0	13.653	0.61799	502	0.75873	.;.	.	.	.	.	.	Uncertain significance	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	3763.98	35	chr10	95992634	.	T	C	3763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.268e+00;DP=952;ExcessHet=0.0000;FS=4.270;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=0.745;SOR=0.485	GT:AD:DP:GQ:PL	0/1:110,146:256:99:3778,0,2699	20	0	1	0
chr10	100481066	100481066	T	C	exonic	WNT8B	.	nonsynonymous SNV	WNT8B:NM_003393:exon4:c.T310C:p.C104R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.235	H	-2.89	D	1.094	D	0.929	D	0.995	4.714	26.2	5.93	2.271	8.040	16.383	0.947	0.406567233612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	4.605	0.99268	H	-2.89	0.91589	D	-11.95	0.99600	D	0.993	0.99863	1.094	0.99408	D	0.929	0.97655	D	10	0.9928733	0.99822	D	0.406567	0.93509	D	0.947	0.98955	0.967	0.99679	0.934034491412	0.93335	0.9816209295266485	0.98154	2.54765427674	0.97855	0.938637673855	0.99403	D	0.896049	0.97925	D	0.492607	0.94075	D	0.469819	0.93998	D	0.999968528747559	0.99918	D	0.942806	0.78426	D	0.97775555	0.98934	0.9721947	0.99557	0.97775555	0.98934	0.9721947	0.99557	-12.956	0.89181	D	.	.	0.999	0.98504	P	.	.	5.638983	0.92730	33	0.99766218144113816	0.85500	0.90480	0.51691	D	AEFBCI	0.945853	0.95465	D	1.04636690919868	0.97003	15.44701	0.960200127660477	0.97697	16.59405	0.999999999999946	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.93	5.93	0.95888	8.017000	0.88732	7.841000	0.70530	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.383	0.83317	750	0.51762	.	.	.	.	.	.	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	902.98	34	chr10	100481066	.	T	C	902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.475;DP=783;ExcessHet=0.0000;FS=5.210;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.41;ReadPosRankSum=-1.561e+00;SOR=0.713	GT:AD:DP:GQ:PL	0/1:56,40:96:99:917,0,1365	20	0	1	0
chr10	103612931	103612931	C	T	exonic	SH3PXD2A	.	nonsynonymous SNV	SH3PXD2A:NM_001365079:exon6:c.G823A:p.V275I	.	.	427	1087	7	1	0	9	0.00412277	.	.	3318036	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.51	T	0.069	B	0.01	B	0.060	N	1.000	N	0	N	0.73	T	-1.022	T	0.056	T	0.07	-0.139	3.321	-3.09	-0.391	-0.054	8.595	0.006	0.011659622552	.	.	0.0002	0	0.0002	0	0	6.1e-05	0.0012	0.0013	0.0001682	26	154602	rs771136503	0.0001	0.0001	7.763e-05	0.0001	0.0014	9.054e-05	8.537e-05	0.0007	0.0006	2.989e-05	2.24e-05	0.0002	0	1.874e-05	0.0014	4.588e-05	0.0002	0.0008	0.0001	0.0001	6.422e-05	0.0002	0.0012	7.083e-05	5.741e-05	0.0005	0.0004	0	0	0.0002	0.0003	0	0	0	8.819e-05	0.0005	0.0012	0.311	0.13971	T	0.459	0.12632	T	0.001	0.07471	B	0.0	0.04355	B	0.059880	0.22291	N	0.486804	1	0.08975	N	0	0.06538	N	0.58	0.54149	T	-0.21	0.10308	N	0.025	0.01135	-1.0223	0.22965	T	0.056	0.23527	T	10	0.011376262	0.00249	T	0.01166	0.29506	T	0.017	0.02790	0.235	0.16457	0.199424873507	0.19547	0.32874651389705317	0.32787	0.278459395054	0.30327	0.282944142818	0.07906	T	0.014814	0.12542	T	-0.574356	0.00209	T	-0.665275	0.07915	T	0.0117411851040579	0.00181	T	0.686431	0.31322	T	0.03338077	0.03547	0.029993081	0.01400	0.03338077	0.03546	0.029993081	0.01400	-4.531	0.31292	T	.	.	0.065	0.04159	B	.;.	.;.	0.028607	0.04484	1.195	0.69598615463472302	0.09023	0.08857	0.14723	N	AEFBCI	0.057238	0.10646	N	-1.38110976014506	0.02815	0.1248572	-1.38070142119034	0.03458	0.1613356	0.999855336748622	0.44174	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.67	-3.09	0.05006	-0.182000	0.09720	-0.495000	0.08836	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.124:0.1627:0.0:0.7133	8.595	0.32869	86	0.96395	.;.	.	.	.	.	.	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	1201.98	35	chr10	103612931	.	C	T	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=759;ExcessHet=0.0000;FS=5.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.69;ReadPosRankSum=0.158;SOR=1.491	GT:AD:DP:GQ:PL	0/1:33,39:72:99:1216,0,905	20	0	1	0
chr10	110502803	110502803	G	C	exonic	DUSP5	.	nonsynonymous SNV	DUSP5:NM_004419:exon2:c.G462C:p.E154D,	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.877	P	0.339	B	0.000	D	1.000	D	0.345	N	1.55	T	-1.100	T	0.011	T	0.254	1.799	11.97	4.15	0.846	2.168	11.116	0.076	.	0.0042	0.0139776	0.0128	0.0030	0.0708	0.0339	0.0064	0.0042	0.0088	0.0045	0.0125678	1943	154602	rs2282238	0.0080	0.0081	0.0087	0.0074	0.0665	0.0079	0.0079	0.0645	0.0637	0.0018	0.0665	0.0005	0.0448	0.0070	0.0005	0.0050	0.0099	0.0042	0.0099	0.0100	0.0091	0.0108	0.0445	0.0095	0.0093	0.0417	0.0406	0.0030	0.0318	0.0445	0.0006	0.0305	0.0082	0	0.0054	0.0142	0.0064	0.53	0.07025	T	0.583	0.08419	T	0.877	0.48223	P	0.339	0.42346	B	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	2.26	0.64354	M	1.55	0.29866	T	-0.8	0.22078	N	0.123	0.11483	-1.1000	0.04091	T	0.011	0.03996	T	10	0.0047810078	0.00101	T	.	.	.	0.076	0.22200	0.111	0.02112	.	.	0.7077919377368567	0.70721	0.143490453161	0.16199	0.419095158577	0.27712	T	0.072114	0.34374	T	-0.520408	0.00438	T	-0.46442	0.26120	T	0.0269226780013932	0.01533	T	0.620138	0.23804	T	0.13261358	0.30873	0.092755735	0.21876	0.13261358	0.30873	0.092755735	0.21875	-4.434	0.30015	T	.	.	0.084	0.09772	B	.	.	1.987030	0.25245	16.69	0.98987322397196131	0.49861	0.96664	0.70285	D	AEFDGBHCI	0.476155	0.51969	N	-0.0467079218261955	0.39749	2.349175	0.050291520979439	0.42085	2.539501	0.999999976038697	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.643519	0.47002	0	0.591603	0.36755	0	.	.	6.02	4.15	0.47978	2.240000	0.42737	3.294000	0.37329	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.843000	0.39806	0.0689:0.1293:0.8018:0.0	11.116	0.47484	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	385.98	33	chr10	110502803	.	G	C	385.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.640e-01;DP=739;ExcessHet=0.0000;FS=6.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.72;ReadPosRankSum=0.071;SOR=1.008	GT:AD:DP:GQ:PL	0/1:32,18:50:99:400,0,881	20	0	1	0
chr10	110812675	110812675	T	A	exonic	RBM20	.	nonsynonymous SNV	RBM20:NM_001134363:exon9:c.T2278A:p.Y760N,	Cardiomyopathy, dilated, 1DD, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.93	P	0.564	P	0.007	N	0.979	D	1.495	L	-0.98	T	-0.586	T	0.315	T	0.459	2.487	14.28	2.21	0.133	2.398	9.113	0.322	0.0584846876274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.287e-06	4.104e-06	4.23e-06	4.346e-06	0.0002	1.54e-06	1.01e-06	7.308e-05	4.94e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.026	0.55759	D	.	.	.	.	.	.	0.006940	0.31707	N	0.213038	0.979313	0.39549	D	.	.	.	-0.98	0.75789	T	-4.04	0.74427	D	0.546	0.57263	-0.5860	0.65380	T	0.315	0.68469	T	10	0.37520155	0.53778	T	0.058485	0.67334	D	0.322	0.64420	0.223	0.14665	0.613891742858	0.61077	0.3467264033944168	0.34586	.	.	0.366566300392	0.20338	T	.	.	.	0.0320026	0.55989	T	-0.191807	0.55419	T	0.955992877483368	0.64646	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.35788	B	.	.	2.963793	0.39475	21.0	0.97453113724519402	0.34043	0.80403	0.40050	D	AEFDBCI	0.291264	0.40244	N	0.112335226844688	0.47038	2.935165	0.0988182264401368	0.44489	2.729732	0.999999766074148	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.78	2.21	0.27042	2.453000	0.44627	0.668000	0.20568	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.976000	0.56436	0.0:0.2105:0.0:0.7895	9.113	0.35902	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1832.98	33	chr10	110812675	.	T	A	1832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.219;DP=883;ExcessHet=0.0000;FS=1.195;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-1.124e+00;SOR=0.581	GT:AD:DP:GQ:PL	0/1:95,77:172:99:1847,0,2377	20	0	1	0
chr10	114226130	114226130	T	C	exonic	TDRD1	.	nonsynonymous SNV	TDRD1:NM_001385370:exon20:c.T2747C:p.I916T	.	.	432	1088	1	1	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.916	P	0.66	P	0.798	N	0.883	N	0.385	N	3.07	T	-1.111	T	0.020	T	0.152	0.187	5.007	4.88	1.098	0.534	9.401	0.083	0.00521737619606	.	0.000199681	4.119e-05	0	0	0.0001	0.0006	0	0	0	3.88e-05	6	154602	rs200920919	1.847e-05	1.847e-05	1.77e-05	1.925e-05	3.478e-05	1.265e-05	1.084e-05	9.24e-06	4.56e-06	2.987e-05	0	0	2.519e-05	0.0003	0	6.295e-06	1.656e-05	3.478e-05	0.0001	0.0001	7.709e-05	0.0001	0.0002	7.087e-05	5.744e-05	5.843e-05	4.24e-05	0	0	0	0	0.0002	0.0008	0	0.0001	0	0	0.481	0.11442	T	0.163	0.31326	T	0.873	0.47975	P	0.372	0.43610	B	0.797627	0.09348	N	0.919097	0.882989	0.28016	N	0.135	0.08676	N	3.07	0.08547	T	-0.23	0.10656	N	0.178	0.19325	-1.1108	0.03002	T	0.020	0.08546	T	10	0.03159648	0.01296	T	0.005217	0.13310	T	0.083	0.24192	.	.	0.143184338766	0.13958	0.21045239142689207	0.20961	0.267114651535	0.29252	0.306709647179	0.11410	T	.	.	.	-0.442054	0.01258	T	-0.647054	0.09161	T	0.0342231653630733	0.02675	T	0.640736	0.27102	T	.	.	.	.	.	.	.	.	-2.821	0.08378	T	.	.	0.082	0.08657	B	.;.;.	.;.;.	1.401564	0.18154	13.58	0.75988799868588219	0.11289	0.11870	0.16914	N	AEFBI	0.066784	0.13095	N	-0.542177376897972	0.20729	1.094945	-0.499697151141374	0.22163	1.202416	3.84209417493885E-4	0.06781	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	6.01	4.88	0.63131	0.541000	0.22915	0.706000	0.20886	0.665000	0.62972	0.062000	0.21832	0.009000	0.19889	0.903000	0.43903	0.0:0.1422:0.0:0.8578	9.401	0.37596	896	0.25515	Tudor domain|Tudor domain|Tudor domain;.;Tudor domain|Tudor domain|Tudor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1220.98	33	chr10	114226130	.	T	C	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.203e+00;DP=862;ExcessHet=0.0000;FS=0.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.77;ReadPosRankSum=1.21;SOR=0.594	GT:AD:DP:GQ:PL	0/1:71,54:125:99:1235,0,1858	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|1:83,26:109:99:0|1:117341048_C_T:162,0,2535:117341048	4	0	10	7
chr10	118336373	118336373	C	T	exonic	FAM204A	.	nonsynonymous SNV	FAM204A:NM_001134672:exon2:c.G43A:p.A15T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.501	P	0.062	B	0.248	N	1.000	N	0.345	N	.	.	-1.065	T	0.041	T	0.071	1.496	10.95	-1.6	-0.179	0.148	11.177	0.205	0.00632246015218	.	.	1.656e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765376062	1.437e-05	1.437e-05	1.771e-05	1.101e-05	1.8e-05	9.24e-06	7.84e-06	1.175e-05	9.55e-06	0	0	0	0	0	0	1.8e-05	0	1.16e-05	3.29e-05	3.285e-05	1.286e-05	5.39e-05	7.253e-05	1.262e-05	7.99e-06	1.923e-05	1.033e-05	7.253e-05	0	6.563e-05	0	0	0	0	1.47e-05	0	0	0.022	0.52492	D	0.037	0.54159	D	0.501	0.37169	P	0.062	0.26930	B	0.247884	0.15572	N	0.633028	1	0.08975	N	0	0.06538	N	.	.	.	-0.07	0.08033	N	0.059	0.03069	-1.0646	0.10642	T	0.041	0.17700	T	9	0.05672142	0.06401	T	0.006322	0.16610	T	0.205	0.49236	0.102	0.01589	0.0482279557977	0.04254	0.40897796532580216	0.40813	0.211961697235	0.23693	0.26521062851	0.05527	T	0.029674	0.21209	T	-0.266819	0.12114	T	-0.621043	0.11105	T	0.0795878937593602	0.09934	T	0.692631	0.30204	T	0.042350654	0.06407	0.06701561	0.13805	0.042350654	0.06407	0.06701561	0.13805	-2.632	0.06750	T	.	.	0.066	0.02399	B	.;.;.	.;.;.	2.025197	0.25739	16.87	0.93976475013754801	0.24054	0.37953	0.25878	N	AEFBI	0.036275	0.04807	N	-0.750294266246002	0.14624	0.73011	-0.736247108598667	0.16062	0.8478576	0.151196247893007	0.17443	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	-1.6	0.07977	0.121000	0.15496	-0.096000	0.11999	-0.182000	0.10109	0.965000	0.33920	0.000000	0.08366	0.750000	0.35786	0.0:0.4777:0.0:0.5223	11.177	0.47830	775	0.48401	.;.;.	.	.	.	.	.	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	165.89	34	chr10	118336373	.	C	T	165.89	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.780e+00;DP=1286;ExcessHet=0.3300;FS=275.458;InbreedingCoeff=-0.0815;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.57;ReadPosRankSum=0.185;SOR=9.541	GT:AD:DP:GQ:PL	0/1:62,30:92:99:135,0,1099	18	0	3	0
chr10	119165545	119165545	C	T	exonic	SFXN4	.	nonsynonymous SNV	SFXN4:NM_213649:exon1:c.G103A:p.E35K,	Combined oxidative phosphorylation deficiency 18, Autosomal recessive	.	381	1120	19	2	0	23	0.0101635	.	.	2347668	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.929	P	0.435	B	0.211	N	1.000	N	0.55	N	1.39	T	-1.035	T	0.064	T	0.351	3.506	17.92	0.662	0.145	0.279	12.668	0.130	0.157050435121	7.7e-05	.	0.0001	0	0	0	0	8.044e-05	0.0012	0.0004	8.41e-05	13	154602	rs372672920	0.0001	0.0001	9.878e-05	0.0001	0.0016	8.899e-05	8.375e-05	0.0008	0.0006	0	4.743e-05	7.935e-05	0	0	0.0016	6.998e-05	0.0003	0.0005	0.0001	0.0001	0.0001	0.0001	0.0004	7.579e-05	6.283e-05	9.049e-05	7.013e-05	9.648e-05	0	0	0	0	0	0.0032	0.0002	0	0.0004	0.029	0.45756	D	0.063	0.45110	T	0.929	0.51690	P	0.435	0.45529	B	0.210870	0.16369	N	0.574289	1	0.08975	N	2.175	0.60977	M	1.39	0.33842	T	-2.02	0.46503	N	0.326	0.36674	-1.0349	0.18888	T	0.064	0.26420	T	10	0.13516244	0.25721	T	0.15705	0.83771	D	0.130	0.35528	.	.	0.243398259712	0.23965	0.3819189429750552	0.38106	0.774241338114	0.64942	0.565121591091	0.47989	T	0.083098	0.36976	T	-0.377941	0.03209	T	-0.446512	0.28083	T	0.0676171208650311	0.08312	T	0.592841	0.21881	T	0.39509577	0.60392	0.32366663	0.58297	0.51960593	0.68238	0.3662674	0.61959	-5.933	0.45716	T	.	.	0.174	0.38080	B	.	.	1.999558	0.25404	16.75	0.99415485706154727	0.63501	0.06565	0.12579	N	ALL	0.069066	0.13654	N	-0.748737879483786	0.14668	0.7325966	-0.886815717152656	0.12405	0.6379448	0.999999999995417	0.74766	0.72623	0.87236	0	0.504199	0.08210	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	3.68	0.662	0.17049	0.007000	0.13074	-0.168000	0.11254	-1.268000	0.01283	0.004000	0.16614	0.000000	0.08366	0.523000	0.29544	0.0:0.5285:0.4715:0.0	12.668	0.56219	750	0.51762	.	.	.	.	.	.	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	558.98	34	chr10	119165545	.	C	T	558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.674e+00;DP=772;ExcessHet=0.0000;FS=1.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=1.46;SOR=0.515	GT:AD:DP:GQ:PL	0/1:33,27:60:99:573,0,839	20	0	1	0
chr10	122299034	122299034	G	A	exonic	BTBD16	.	nonsynonymous SNV	BTBD16:NM_001318189:exon9:c.G694A:p.E232K	.	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.983	D	0.000	N	0.983	D	2.175	M	2.18	T	-1.093	T	0.058	T	0.167	2.907	15.69	3.8	0.741	1.959	7.68	0.167	.	0.0045	0.00319489	0.0014	0.0130	0.0010	0	0	0.0004	0	0	0.0012807	198	154602	rs76567565	0.0006	0.0006	0.0007	0.0005	0.0111	0.0006	0.0005	0.0102	0.0098	0.0111	0.0008	0.0018	2.519e-05	0	0.0057	0.0003	0.0010	2.319e-05	0.0040	0.0041	0.0040	0.0041	0.0135	0.0038	0.0037	0.0126	0.0122	0.0135	0	0.0016	0.0017	0	0	0.0034	0.0002	0.0024	0.0002	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.983	0.75793	D	0.000206	0.47681	N	0.133939	0.98253	0.39903	D	2.585	0.75554	M	2.18	0.18875	T	-2.04	0.46842	N	0.51	0.54147	-1.0935	0.04974	T	0.058	0.24465	T	10	0.009195805	0.00208	T	.	.	.	0.167	0.42761	.	.	0.463758542814	0.46003	0.5875637147894273	0.58686	0.63775699092	0.57515	0.482480585575	0.36398	T	0.024145	0.18301	T	-0.519405	0.00444	T	-0.507834	0.21539	T	0.0260243311556005	0.01409	T	0.765923	0.39354	T	0.1108792	0.26206	0.13244122	0.31782	0.1108792	0.26206	0.13244122	0.31781	-10.536	0.77054	D	.	.	0.124	0.26042	B	.	.	3.207486	0.43650	21.8	0.9988141745124951	0.95733	0.21260	0.21338	N	ALL	0.214889	0.34031	N	0.187518151645378	0.50600	3.248388	0.114897598843471	0.45310	2.796419	0.999999999998594	0.74766	0.693307	0.56506	0	0.596394	0.48810	0	0.658952	0.52864	0	0.56214	0.19341	0	.	.	5.66	3.8	0.42887	2.010000	0.40532	.	.	-0.153000	0.12021	0.986000	0.36153	1.000000	0.68203	0.527000	0.29637	0.0871:0.1653:0.7476:0.0	7.68	0.27674	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1140.98	33	chr10	122299034	.	G	A	1140.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.192;DP=789;ExcessHet=0.0000;FS=1.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=1.57;SOR=0.559	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1155,0,1117	20	0	1	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	0/1:88,30:138:99:108,0,1432	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	2/2:3,10,174,0:187:99:.:.:7207,6404,6256,498,298,0,6977,6407,550,6894	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	2/2:3,10,174,0:187:99:.:.:7207,6404,6256,498,298,0,6977,6407,550,6894	0	0	1	0
chr10	124484261	124484261	C	T	exonic	LHPP	.	nonsynonymous SNV	LHPP:NM_001167880:exon2:c.C248T:p.P83L	.	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	3.135	M	1.38	T	-0.301	T	0.293	T	0.924	3.750	19.04	4.46	2.492	7.170	17.698	0.489	0.12001582747	.	.	2.482e-05	0	8.649e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs774460170	1.573e-05	1.573e-05	1.225e-05	1.925e-05	9.275e-05	1.048e-05	8.75e-06	4.578e-05	3.272e-05	0	4.472e-05	0	0	3.753e-05	0	5.396e-06	8.279e-05	9.275e-05	1.972e-05	1.97e-05	2.57e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.427e-05	0	2.94e-05	0	0	0.007	0.68238	D	0.007	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.6	0.93737	H	1.38	0.34050	T	-5.18	0.85921	D	0.904	0.91968	-0.3013	0.74949	T	0.293	0.66450	T	10	0.8466832	0.83835	D	0.120016	0.80045	D	0.489	0.77656	0.542	0.65446	0.283761946502	0.27984	0.9282217328241392	0.92800	0.762294146699	0.64330	0.548564255238	0.45655	T	0.033384	0.22889	T	0.144024	0.68706	D	0.171758	0.81514	D	0.917318522930145	0.57510	D	0.962204	0.85735	D	0.9548416	0.96757	0.8472146	0.91317	0.9548416	0.96757	0.8472146	0.91318	-12.563	0.90895	D	.	.	0.700	0.76755	P	.;.;.	.;.;.	4.673685	0.74716	26.2	0.99853847039118682	0.93279	0.98610	0.84669	D	AEFDGBI	0.898339	0.84151	D	0.756491278440794	0.83330	7.988616	0.627091509848668	0.76912	6.579668	0.999999999999544	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.699875	0.68795	0	.	.	4.46	4.46	0.53567	7.236000	0.77612	7.507000	0.59567	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.153000	0.20410	0.0:1.0:0.0:0.0	17.698	0.88194	899	0.25060	.;.;.	.	.	.	.	.	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	1651.98	33	chr10	124484261	.	C	T	1651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.049;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=1.62;SOR=0.686	GT:AD:DP:GQ:PL	0/1:62,66:128:99:1666,0,1559	20	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|1:86,40:126:99:0|1:124989533_G_A:1379,0,3390:124989533	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	0/1:91,30:121:99:853,0,3022	1	0	20	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G	.	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.975	D	0.001	N	1.000	D	1.24	L	-1.82	D	0.438	D	0.671	D	0.652	4.150	21.4	5.12	2.665	9.168	18.759	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	4921.72	139	chr10	124989579	.	G	C	4921.72	.	AC=13;AF=0.433;AN=30;BaseQRankSum=0.109;DP=2996;ExcessHet=11.8493;FS=20.692;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.533;MQ=53.13;MQRankSum=-7.741e+00;QD=2.77;ReadPosRankSum=-2.380e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/1:102,20:122:99:207,0,2942	2	0	13	6
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H	.	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.48	M	-1.64	D	0.598	D	0.722	D	0.666	4.396	23.3	5.36	2.030	7.698	15.357	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7883.4	152	chr10	124994489	.	T	G	7883.4	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.91;DP=3256;ExcessHet=54.0936;FS=22.490;InbreedingCoeff=-0.9843;MLEAC=21;MLEAF=0.500;MQ=58.49;MQRankSum=-7.468e+00;QD=2.53;ReadPosRankSum=-3.768e+00;SOR=2.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,15:157:99:0|1:124994489_T_G:202,0,5907:124994489	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|1:138,19:157:99:0|1:124994489_T_G:378,0,5737:124994489	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|1:138,20:158:99:0|1:124994489_T_G:408,0,5694:124994489	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|1:154,33:187:99:0|1:124994523_G_A:849,0,6072:124994523	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	0/1:151,29:180:99:316,0,4203	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	0/1:146,36:182:99:449,0,4009	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|1:152,42:194:99:0|1:124994577_C_A:1296,0,6107:124994577	0	0	21	0
chr10	125003003	125003003	-	GCCA	exonic	CTBP2	.	frameshift insertion	CTBP2:NM_001363508:exon3:c.518_519insTGGC:p.S174Gfs*5	.	.	408	1041	73	0	0	73	0.0338747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	268.07	94	chr10	125003003	.	G	GGCCA	268.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.970e-01;DP=2467;ExcessHet=0.1072;FS=1.838;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=56.70;MQRankSum=-4.479e+00;QD=1.48;ReadPosRankSum=2.08;SOR=0.611	GT:AD:DP:GQ:PL	0/1:102,13:115:99:226,0,4199	19	0	2	0
chr10	125003006	125003006	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A516G:p.I172M	.	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.328	B	0.722	P	0.000	D	1.000	D	1.225	L	0.49	T	-0.750	T	0.204	T	0.848	1.968	12.54	-0.385	0.050	-0.041	9.404	0.299	0.0321536739593	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112239066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.08	0.63918	T	0.181	0.33195	B	0.448	0.54942	P	0.000000	0.84330	D	0.041576	0.999844	0.50061	D	0.75	0.19020	N	0.49	0.55775	T	-2.64	0.58569	D	0.836	0.83269	-0.7500	0.57935	T	0.204	0.56197	T	10	0.6425146	0.69138	D	0.032154	0.54058	D	0.299	0.61955	0.608	0.74063	0.888756313204	0.88766	0.8899222963871994	0.88962	1.97030917324	0.93550	0.763966917992	0.76522	T	0.498739	0.82005	T	0.153991	0.69642	D	-0.0165792	0.69254	D	0.892641007900238	0.54376	D	0.971703	0.89738	D	0.900253	0.91405	0.73775256	0.84500	0.900253	0.91406	0.73775256	0.84501	-11.638	0.83043	D	.	.	0.704	0.73111	P	.;.;.;.;.;.	.;.;.;.;.;.	3.009532	0.40238	21.1	0.98800960143032701	0.46445	0.70557	0.34640	D	AEFDGBCI	0.375410	0.45995	N	-0.354523303243395	0.27107	1.484558	-0.382971277888603	0.25504	1.402991	0.999987104814068	0.51787	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	-0.385	0.11849	0.087000	0.14801	-2.864000	0.03283	0.661000	0.55757	0.984000	0.35821	0.000000	0.08366	0.987000	0.62547	0.1048:0.0:0.556:0.3392	9.404	0.37616	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1786	1287.27	108	chr10	125003006	.	TATCC	CATCC,T	1287.27	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.008e+00;DP=2685;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2572;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.16;MQRankSum=-5.258e+00;QD=2.83;ReadPosRankSum=0.793;SOR=0.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:101,1,13:115:99:.:.:340,508,4676,0,4154,4201	9	0	4	7
chr10	125003007	125003010	ATCC	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon3:c.512_515del:p.R171Qfs*155	.	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1786	1287.27	108	chr10	125003006	.	TATCC	CATCC,T	1287.27	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.008e+00;DP=2685;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2572;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.16;MQRankSum=-5.258e+00;QD=2.83;ReadPosRankSum=0.793;SOR=0.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:101,1,13:115:99:.:.:340,508,4676,0,4154,4201	9	0	4	7
chr10	125003008	125003008	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A514G:p.I172V	.	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.269	B	0.279	B	0.000	D	1.000	D	0.59	N	0.75	T	-0.924	T	0.114	T	0.644	1.971	12.55	4.94	1.998	8.040	14.902	0.268	0.00473531755394	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112508291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.49117	T	0.225	0.53426	T	0.077	0.31731	B	0.17	0.40265	B	0.000000	0.84330	D	0.041576	0.999999	0.58761	D	0.695	0.17993	N	0.75	0.50192	T	-0.79	0.24026	N	0.556	0.58202	-0.9237	0.45041	T	0.114	0.40582	T	10	0.38906825	0.54757	T	0.004735	0.11784	T	0.268	0.58254	0.543	0.65589	0.617811438573	0.61472	0.8191908894802049	0.81876	0.844564219319	0.68219	0.727838099003	0.71190	T	0.212424	0.57347	T	0.0218691	0.54635	T	-0.206363	0.54044	T	0.846796572208405	0.49891	D	0.80082	0.44648	T	0.6371357	0.74678	0.6131621	0.77490	0.6371357	0.74680	0.6131621	0.77491	-10.157	0.74846	D	.	.	0.354	0.56812	A	.;.;.;.;.;.	.;.;.;.;.;.	4.218404	0.63791	24.6	0.9760612770993129	0.34876	0.96140	0.67716	D	AEFDGBCI	0.953944	0.97066	D	-0.0415507725916174	0.39979	2.366619	0.072950189852906	0.43195	2.62624	0.999999999999936	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.94	0.64645	6.271000	0.72566	7.738000	0.67953	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.902	0.70330	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	504.44	107	chr10	125003008	.	T	C,*	504.44	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.114e+00;DP=2666;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2600;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.08;MQRankSum=-5.258e+00;QD=1.11;ReadPosRankSum=1.08;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:101,1,13:115:99:0|1:125003008_T_C:343,511,4679,0,4154,4159:125003008	9	0	4	7
chr10	125003008	125003008	T	0	exonic	CTBP2	.	.	.	.	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1786	504.44	107	chr10	125003008	.	T	C,*	504.44	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.114e+00;DP=2666;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2600;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.08;MQRankSum=-5.258e+00;QD=1.11;ReadPosRankSum=1.08;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:101,1,13:115:99:0|1:125003008_T_C:343,511,4679,0,4154,4159:125003008	9	0	4	7
chr10	125003010	125003010	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G512A:p.R171Q	.	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.955	D	0.000	D	1.000	D	2.595	M	0.74	T	-0.368	T	0.302	T	0.95	3.888	19.76	4.04	1.230	7.818	13.592	0.504	0.05280934696	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760489730	3.421e-06	3.42e-06	4.084e-06	2.751e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.49117	D	0.097	0.47828	T	0.981	0.70673	D	0.87	0.69585	P	0.000002	0.62929	D	0.103452	0.999999	0.58761	D	1.885	0.50048	L	0.74	0.50459	T	-3.3	0.70553	D	0.879	0.89020	-0.3679	0.73025	T	0.302	0.67288	T	10	0.8397628	0.83130	D	0.052809	0.65217	D	0.504	0.78600	0.649	0.78648	0.920337149778	0.91953	0.9496583447662756	0.94948	2.13197071687	0.95171	0.73884499073	0.72801	T	0.615991	0.87897	D	0.255676	0.79129	D	0.129484	0.78858	D	0.985857844352722	0.76728	D	0.876112	0.58827	D	0.93815976	0.95059	0.8432051	0.91051	0.93815976	0.95060	0.8432051	0.91051	-13.433	0.93329	D	.	.	0.974	0.90036	P	.;.;.;.;.;.	.;.;.;.;.;.	5.858587	0.93846	33	0.99909411540893078	0.97949	0.95340	0.64339	D	AEFDGBCI	0.924502	0.90264	D	0.389332597998194	0.60844	4.277879	0.288795626305503	0.54883	3.652246	0.999999999992808	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.04	0.46262	6.159000	0.71664	3.924000	0.40490	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9243:0.0:0.0757	13.592	0.61434	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	517.97	102	chr10	125003010	.	C	T,*	517.97	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=-1.274e+00;DP=2706;ExcessHet=1.7912;FS=3.146;InbreedingCoeff=-0.2869;MLEAC=6,1;MLEAF=0.214,0.036;MQ=57.13;MQRankSum=-5.988e+00;QD=0.93;ReadPosRankSum=0.743;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:99,1,13:113:99:0|1:125003008_T_C:349,511,4622,0,4093,4075:125003008	8	0	5	7
chr10	125003010	125003010	C	0	exonic	CTBP2	.	.	.	.	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	517.97	102	chr10	125003010	.	C	T,*	517.97	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=-1.274e+00;DP=2706;ExcessHet=1.7912;FS=3.146;InbreedingCoeff=-0.2869;MLEAC=6,1;MLEAF=0.214,0.036;MQ=57.13;MQRankSum=-5.988e+00;QD=0.93;ReadPosRankSum=0.743;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:99,1,13:113:99:0|1:125003008_T_C:349,511,4622,0,4093,4075:125003008	8	0	5	7
chr10	125003036	125003036	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G486T:p.K162N	.	.	419	630	463	10	0	483	0.277108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.986	D	0.89	P	0.000	N	1.000	D	1.515	L	0.72	T	-0.828	T	0.177	T	0.518	2.828	15.42	4.03	1.204	2.555	6.007	0.295	0.0466189854146	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201760950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.43708	D	0.12	0.58089	T	0.986	0.61523	D	0.89	0.63157	P	0.000000	0.84330	N	0.042861	0.999994	0.58761	D	1.115	0.28702	L	0.72	0.50976	T	-4.42	0.80425	D	0.797	0.79696	-0.8284	0.53403	T	0.177	0.52272	T	10	0.7330282	0.74429	D	0.046619	0.62540	D	0.295	0.61502	0.506	0.60078	0.669401567584	0.66661	0.9683590239784833	0.96823	1.29775370337	0.82942	0.700282335281	0.67184	T	0.552971	0.84897	D	-0.0504497	0.44379	T	-0.310244	0.43632	T	0.989160597324371	0.79417	D	0.748325	0.36895	T	0.7315896	0.79813	0.47296822	0.69449	0.7315896	0.79814	0.47296822	0.69450	-15.293	0.98237	D	.	.	0.987	0.92764	P	.;.;.;.;.;.	.;.;.;.;.;.	4.828208	0.78704	27.0	0.99659729855249335	0.77883	0.88851	0.48981	D	AEFDGBCI	0.619890	0.60515	D	0.116058801363205	0.47212	2.950075	0.0734135689233688	0.43216	2.628043	0.999999959797154	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.03	0.46115	2.713000	0.46862	1.753000	0.28490	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.1568:0.6905:0.0:0.1528	6.007	0.18780	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	1327.89	96	chr10	125003036	.	C	A	1327.89	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-2.315e+00;DP=2688;ExcessHet=1.1607;FS=7.390;InbreedingCoeff=-0.2539;MLEAC=7;MLEAF=0.250;MQ=56.90;MQRankSum=-6.218e+00;QD=2.82;ReadPosRankSum=1.58;SOR=1.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,18:113:99:0|1:125003036_C_A:267,0,3859:125003036	9	0	5	7
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S	.	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.041	B	0.069	B	0.000	N	0.999	D	1.21	L	-1.93	D	-0.330	T	0.453	T	0.622	2.408	14.01	3.79	0.824	5.018	11.226	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1345.64	103	chr10	125003062	.	T	A	1345.64	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-1.762e+00;DP=2793;ExcessHet=1.7912;FS=10.332;InbreedingCoeff=-0.3044;MLEAC=8;MLEAF=0.286;MQ=57.06;MQRankSum=-6.687e+00;QD=2.31;ReadPosRankSum=1.25;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,19:125:99:0|1:125003062_T_A:335,0,4333:125003062	8	0	6	7
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F	.	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.972	D	0.946	D	0.000	N	1.000	D	1.455	L	0.6	T	-0.651	T	0.246	T	0.862	4.563	24.7	3.79	0.824	8.033	11.226	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1343.45	102	chr10	125003065	.	T	A	1343.45	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-1.729e+00;DP=2798;ExcessHet=1.7912;FS=10.427;InbreedingCoeff=-0.3097;MLEAC=8;MLEAF=0.286;MQ=57.07;MQRankSum=-6.630e+00;QD=2.30;ReadPosRankSum=1.20;SOR=1.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,19:126:99:0|1:125003062_T_A:332,0,4354:125003062	8	0	6	7
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X	.	.	432	1023	67	0	0	67	0.0317085	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	6.130	37	5.28	2.217	5.606	13.948	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1731.31	135	chr10	125039033	.	T	A	1731.31	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.532e+00;DP=2371;ExcessHet=9.6308;FS=3.604;InbreedingCoeff=-0.4064;MLEAC=12;MLEAF=0.286;MQ=58.76;MQRankSum=-1.194e+01;QD=0.98;ReadPosRankSum=0.141;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,14:167:99:0|1:125039033_T_A:127,0,6310:125039033	9	0	12	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R	.	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.001	B	.	.	1.000	N	1.61	L	-1.53	D	-0.716	T	0.384	T	0.78	2.124	13.06	5.28	2.217	5.606	13.948	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1731.31	135	chr10	125039035	.	T	C	1731.31	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.484e+00;DP=2344;ExcessHet=9.6308;FS=3.604;InbreedingCoeff=-0.4064;MLEAC=12;MLEAF=0.286;MQ=58.74;MQRankSum=-1.194e+01;QD=0.98;ReadPosRankSum=0.412;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,14:167:99:0|1:125039033_T_A:127,0,6310:125039033	9	0	12	0
chr10	126118141	126118141	T	C	exonic	ADAM12	.	nonsynonymous SNV	ADAM12:NM_001288973:exon6:c.A500G:p.K167R	.	.	423	1090	9	0	0	9	0.00411147	.	.	712225	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.213	B	0.108	B	0.001	N	1.000	N	0	N	4.85	T	-1.036	T	0.021	T	0.162	1.979	12.57	5.03	2.118	2.770	10.052	0.102	.	0.0040	0.00259585	0.0011	0.0114	0.0006	0	0	1.498e-05	0	6.058e-05	0.0009702	150	154602	rs112264074	0.0004	0.0004	0.0004	0.0003	0.0123	0.0004	0.0004	0.0113	0.0109	0.0123	0.0007	0	0	0	0.0009	4.137e-05	0.0012	0.0001	0.0036	0.0036	0.0037	0.0035	0.0124	0.0033	0.0032	0.0115	0.0112	0.0124	0	0.0013	0	0	0	0	0.0001	0.0009	0.0002	0.02	0.78490	D	0.046	0.53072	D	0.078	0.30041	B	0.035	0.31289	B	0.001116	0.40219	N	0.202357	1	0.08975	N	1.61	0.41143	L	4.85	0.20255	T	-1.02	0.26843	N	0.26	0.29429	-1.0361	0.18513	T	0.021	0.08686	T	10	0.003543526	0.00064	T	.	.	.	0.102	0.29158	.	.	0.40032279838	0.39643	0.4729381683582225	0.47212	0.186440988657	0.20951	0.256199717522	0.04448	T	0.215579	0.57750	T	-0.537096	0.00348	T	-0.53389	0.18899	T	0.0319911370483661	0.02305	T	0.705929	0.33194	T	0.068910375	0.15052	0.07552464	0.16636	0.068910375	0.15052	0.07552464	0.16636	-4.296	0.28121	T	.	.	0.065	0.02370	B	.;.;.	.;.;.	2.031393	0.25816	16.90	0.98962855959820717	0.49364	0.17807	0.19996	N	AEFGBI	0.198662	0.32551	N	-0.600540033992631	0.18929	0.9866742	-0.558416835079851	0.20582	1.10958	0.999964642936764	0.48965	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.03	5.03	0.67015	2.967000	0.48908	5.007000	0.46640	0.665000	0.62972	0.131000	0.23362	0.943000	0.28828	0.002000	0.04165	0.0:0.0:0.1686:0.8314	10.052	0.41394	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2303.11	34	chr10	126118141	.	T	C	2303.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.200e-01;DP=868;ExcessHet=0.1072;FS=2.445;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.95;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-3.880e-01;SOR=0.554	GT:AD:DP:GQ:PL	0/1:51,38:89:99:875,0,1242	19	0	2	0
chr10	128106918	128106918	C	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G3842C:p.G1281A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.977	D	0.721	P	0.184	N	1.000	N	1.59	L	4.44	T	-0.901	T	0.010	T	0.078	1.988	12.61	-5.4	-1.226	-0.813	1.322	0.059	0.00358078406199	.	.	.	.	.	.	.	.	.	.	.	.	.	rs748388490	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.22400	T	0.328	0.19660	T	0.977	0.58535	D	0.721	0.54900	P	0.183953	0.03202	N	1.937760	1	0.08975	N	1.59	0.40313	L	4.44	0.02139	T	-0.68	0.23156	N	0.12	0.12198	-0.9009	0.47899	T	0.010	0.03537	T	10	0.085240036	0.14371	T	0.003581	0.08185	T	0.059	0.16972	0.392	0.41606	0.313210971179	0.30940	0.05798748504913216	0.05739	0.220343177176	0.24578	0.189586699009	0.00218	T	0.009538	0.08679	T	-0.363555	0.03933	T	-0.759998	0.03112	T	0.0558696440199568	0.06503	T	0.568943	0.21356	T	0.02462281	0.01313	0.029193465	0.01231	0.02462281	0.01313	0.029193465	0.01230	-6.478	0.56515	T	.	.	0.104	0.18869	B	.;.	.;.	-0.131845	0.03456	0.639	0.90704019624658483	0.19954	0.08517	0.14435	N	AEFBCI	0.078111	0.15754	N	-1.40932661459894	0.02556	0.1130303	-1.61653731441994	0.01558	0.07061103	0.999586443664461	0.40607	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	2.75	-5.4	0.02449	-0.841000	0.04467	-20.000000	0.00162	-1.935000	0.00495	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1389:0.3008:0.2823:0.2779	1.322	0.01991	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	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	3795.98	101	chr10	128106918	.	C	G	3795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.956;DP=3059;ExcessHet=0.0000;FS=6.067;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.063;SOR=0.934	GT:AD:DP:GQ:PL	0/1:151,148:299:99:3810,0,3832	20	0	1	0
chr10	132785568	132785568	C	A	exonic	NKX6-2	.	nonsynonymous SNV	NKX6-2:NM_177400:exon1:c.G381T:p.W127C,	.	.	.	.	.	.	.	.	.	.	.	1288363	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	2.73	M	-2.89	D	0.896	D	0.863	D	0.671	2.234	13.43	3.7	1.866	3.001	12.223	0.693	0.494353292417	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1194004535	6.788e-06	6.84e-06	6.555e-06	7.04e-06	0.0006	2.92e-06	2.11e-06	0.0001	4.531e-05	0	0	0	0	0	0.0006	2.043e-06	4.161e-05	4.426e-05	1.323e-05	1.315e-05	2.586e-05	0	0.0002	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.478e-05	0	0.0002	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000430	0.44522	D	0.209202	1	0.81001	D	2.765	0.80766	M	-2.89	0.91589	D	-8.8	0.97786	D	0.663	0.67218	0.896	0.95625	D	0.863	0.95448	D	10	0.69947267	0.72352	D	0.494353	0.95050	D	0.693	0.88867	0.407	0.44066	0.919587043033	0.91877	0.7866171737524194	0.78613	.	.	0.918076634407	0.98174	D	0.553072	0.84902	D	-0.0619148	0.42606	T	0.102909	0.77101	D	0.592058062553406	0.36087	D	0.928407	0.73561	D	0.87669647	0.89398	0.88016075	0.93572	0.87669647	0.89399	0.88016075	0.93573	-10.382	0.76166	D	0.2251766503049964	0.30418	0.853	0.79927	P	.	.	4.685901	0.75034	26.3	0.9890118801839114	0.48181	0.93679	0.58883	D	AEFDBI	0.616081	0.60277	D	0.446711812939491	0.64015	4.647036	0.30785921747265	0.56002	3.762964	0.99917608276532	0.38651	0.59774	0.34471	0	0.657636	0.61667	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	3.7	3.7	0.41607	1.710000	0.37539	7.008000	0.57221	0.433000	0.20966	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.8269:0.1731:0.0	12.223	0.53755	994	0.00715	.	.	.	.	.	.	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	277.98	30	chr10	132785568	.	C	A	277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=470;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=-4.560e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/1:9,11:20:99:292,0,150	20	0	1	0
chr10	133128606	133128606	G	A	exonic	ADGRA1	.	nonsynonymous SNV	ADGRA1:NM_001291085:exon4:c.G487A:p.A163T	.	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.892	P	0.000	D	1.000	D	2.2	M	0.98	T	-0.623	T	0.231	T	0.597	4.814	27.2	4.85	2.419	7.324	15.822	0.189	0.0164207364839	7.7e-05	.	0.0003	0.0003	0.0002	0	0	0.0001	0.0027	0.0008	0.0001035	16	154602	rs374324374	5.177e-05	5.678e-05	4.256e-05	6.109e-05	0.0003	4.23e-05	3.858e-05	0.0002	0.0002	0	0.0003	0	2.552e-05	0	0.0002	2.798e-05	8.344e-05	0.0003	6.571e-05	6.567e-05	3.853e-05	9.418e-05	0.0008	3.517e-05	2.616e-05	0.0003	0.0002	2.413e-05	0	6.541e-05	0	0.0002	0	0	4.41e-05	0	0.0008	0.058	0.37750	T	0.004	0.74150	D	0.995	0.67487	D	0.892	0.63276	P	0.000016	0.62929	D	0.000000	1	0.81001	D	.	.	.	0.98	0.42122	T	-1.97	0.45587	N	0.463	0.64989	-0.6226	0.63880	T	0.231	0.59657	T	10	0.21118152	0.37538	T	0.016421	0.37668	T	0.189	0.46613	.	.	0.366868811517	0.36303	0.4261516571525803	0.42532	1.2168089278	0.80992	0.771340727806	0.77624	T	0.04981	0.28414	T	-0.189805	0.22287	T	-0.19616	0.55010	T	0.644749760627747	0.38238	D	0.948305	0.81346	D	0.2225655	0.44858	0.3705666	0.62303	0.2225655	0.44858	0.3705666	0.62303	-8.655	0.65451	D	.	.	0.235	0.46870	B	.;.;.	.;.;.	4.799537	0.77971	26.8	0.99904873136248074	0.97576	0.98806	0.87096	D	AEFDBI	0.860086	0.77789	D	0.651250108525552	0.76450	6.488732	0.601055717054565	0.75017	6.236633	0.999997231530201	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.85	4.85	0.62375	7.619000	0.82253	6.314000	0.55434	0.495000	0.22486	1.000000	0.71638	1.000000	0.68203	0.628000	0.32104	0.0:0.0:1.0:0.0	15.822	0.78443	994	0.00715	.;GPCR, family 2-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3433.08	33	chr10	133128606	.	G	A	3433.08	.	AC=2;AF=0.048;AN=42;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.33;SOR=1.234	GT:AD:DP:GQ:PL	1/1:0,103:103:99:3461,309,0	20	1	0	0
chr10	133282252	133282252	C	T	exonic	TUBGCP2	.	nonsynonymous SNV	TUBGCP2:NM_001256618:exon15:c.G1990A:p.E664K	.	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.072	B	0.02	B	0.000	D	0.565	D	1.87	L	2.53	T	-1.009	T	0.058	T	0.255	1.517	11.02	3.11	0.806	3.448	7.972	0.075	0.0107161038949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.852e-07	6.84e-07	1.363e-06	0	2.99e-05	0	0	.	.	2.99e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.46129	D	0.217	0.43159	T	0.072	0.23997	B	0.02	0.19048	B	0.000062	0.52346	D	0.125321	0.564551	0.32241	D	2.295	0.65404	M	2.51	0.30401	T	-0.7	0.21215	N	0.315	0.37613	-1.0092	0.27167	T	0.058	0.24242	T	10	0.14590284	0.27669	T	0.010716	0.27578	T	0.075	0.21907	0.454	0.51775	0.297031009988	0.29315	0.4061514467311737	0.40531	0.384708731815	0.39768	0.413392364979	0.26926	T	0.109448	0.42332	T	-0.157393	0.27162	T	-0.463861	0.26179	T	0.536994218826294	0.33993	D	0.838016	0.51512	T	0.09572264	0.22533	0.106070936	0.25511	0.09572264	0.22532	0.106070936	0.25511	-8.632	0.65765	D	.	.	0.090	0.27373	B	.;.;.;.;.	.;.;.;.;.	2.947631	0.39208	20.9	0.99106415143315296	0.52597	0.76186	0.37346	D	AEFBI	0.119089	0.23259	N	-0.543465446233285	0.20689	1.092503	-0.505914417267261	0.21991	1.192352	0.0166404204883469	0.12854	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.98	3.11	0.34883	3.657000	0.54214	4.664000	0.44250	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.028000	0.12845	0.0:0.7518:0.1616:0.0866	7.972	0.29293	993	0.01300	.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1291.08	39	chr10	133282252	.	C	T	1291.08	.	AC=2;AF=0.048;AN=42;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.74;SOR=1.127	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1319,126,0	20	1	0	0
chr11	556093	556093	C	T	exonic	LMNTD2	.	nonsynonymous SNV	LMNTD2:NM_173573:exon11:c.G1280A:p.S427N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.002	B	0.008	B	0.777	N	1.000	N	0.205	N	-4.88	D	0.148	D	0.696	D	0.043	0.628	7.375	-0.264	0.365	-0.358	4.102	0.160	0.650184922288	0.0013	0.00139776	0.0018	0.0002	0.0013	0	0	0.0021	0.0043	0.0028	0.0010802	167	154602	rs201667162	0.0016	0.0016	0.0015	0.0017	0.0026	0.0016	0.0016	0.0023	0.0022	0.0003	0.0010	8.315e-05	0	0.0004	0.0002	0.0018	0.0014	0.0026	0.0013	0.0013	0.0013	0.0013	0.0024	0.0012	0.0011	0.0017	0.0016	0.0003	0	0.0024	0	0.0002	0.0005	0	0.0020	0.0014	0.0012	0.528	0.07071	T	0.553	0.09329	T	0.002	0.09854	B	0.008	0.13708	B	0.777016	0.06631	N	1.131770	1	0.08975	N	.	.	.	-4.88	0.98296	D	-1.04	0.27259	N	0.115	0.10340	0.148	0.85025	D	0.696	0.89528	D	10	0.014255136	0.00300	T	0.650185	0.97038	D	0.160	0.41473	.	.	0.377451072189	0.37352	0.06484255452358789	0.06423	0.0626823844065	0.06974	.	.	.	0.014652	0.12435	T	-0.41647	0.01802	T	-0.374998	0.36305	T	0.00242047101572341	0.00025	T	0.263374	0.04265	T	0.049777575	0.08892	0.044071954	0.05627	0.049777575	0.08891	0.044071954	0.05627	-5.909	0.45512	T	.	.	0.103	0.18331	B	.	.	0.290229	0.06665	3.167	0.93134732604377979	0.22775	0.05704	0.11626	N	AEFDBIJ	0.094535	0.19113	N	-1.35787404408953	0.03044	0.1353722	-1.3594752355028	0.03695	0.1729108	0.999941530713842	0.47345	0.660377	0.49826	0	0.694456	0.67091	0	0.64067	0.45733	0	0.620976	0.48614	0	.	.	4.07	-0.264	0.12310	-0.704000	0.05160	-0.299000	0.10130	-0.435000	0.05188	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1425:0.4831:0.2804:0.094	4.102	0.09490	912	0.21483	Lamin tail domain|Lamin tail domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1199.11	32	chr11	556093	.	C	T	1199.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.605;DP=691;ExcessHet=0.1072;FS=1.897;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.78;ReadPosRankSum=0.237;SOR=0.477	GT:AD:DP:GQ:PL	0/1:25,23:48:99:628,0,665	19	0	2	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	0/2:482,0,56:538:99:891,2342,22402,0,20061,19892	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|2:341,0,78,0:419:99:0|1:1017461_G_T:2175,3162,17467,0,14317,14084,3162,17467,14317,17467:1017461	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|2:342,0,76,0:418:99:0|1:1017461_G_T:2149,3161,17516,0,14360,14132,3161,17516,14360,17516:1017461	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|1:350,78,0:428:99:0|1:1017461_G_T:2209,0,14462,3249,14696,17943:1017461	0	0	15	1
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|1:361,79,0:440:99:0|1:1017461_G_T:2218,0,14921,3291,15158,18447:1017461	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|1:365,72,0:437:99:0|1:1017461_G_T:1912,0,15110,2997,15326,18321:1017461	0	0	15	1
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|1:368,67,0:435:99:0|1:1017461_G_T:1693,0,15251,2787,15452,18237:1017461	3	0	12	1
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|2:386,0,70,0:456:99:0|1:1017461_G_T:1690,2836,19039,0,16208,15997,2836,19039,16208,19039:1017461	0	0	7	3
chr11	1017504	1017504	G	0	exonic	MUC6	.	.	.	.	.	339	904	113	0	166	279	0.0588235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	2301.88	593	chr11	1017504	.	G	A,*	2301.88	.	AC=6,4;AF=0.176,0.118;AN=34;BaseQRankSum=3.07;DP=13147;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3958;MLEAC=7,5;MLEAF=0.206,0.147;MQ=56.93;MQRankSum=-1.066e+01;QD=0.38;ReadPosRankSum=-8.910e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:392,68,0:460:99:0|1:1017461_G_T:1569,0,16242,2733,16450,19181:1017461	7	0	6	4
chr11	1017514	1017514	A	0	exonic	MUC6	.	.	.	.	.	2	59	85	0	80	165	0.418719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	104987.83	590	chr11	1017514	.	A	G,*	104987.83	.	AC=15,4;AF=0.395,0.105;AN=38;BaseQRankSum=-1.403e+00;DP=13650;ExcessHet=36.0830;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=16,4;MLEAF=0.421,0.105;MQ=56.57;MQRankSum=-1.729e+01;QD=8.60;ReadPosRankSum=3.73;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:384,63,0:447:99:.:.:1344,0,12371,2512,13080,17110	0	0	15	2
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	0/1:373,97,0:470:99:.:.:1404,0,11465,2778,12336,17482	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|1:430,92,0:522:99:0|1:1017596_T_G:1308,0,13508,2597,13783,16380:1017596	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|1:462,105,0:567:99:1|0:1017596_T_G:1759,0,13697,3144,14011,17156:1017596	9	0	11	0
chr11	1018226	1018226	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	11874.25	178	chr11	1018226	.	T	G,*	11874.25	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=4.07;DP=3953;ExcessHet=20.9642;FS=12.534;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=57.35;MQRankSum=-8.912e+00;QD=3.83;ReadPosRankSum=0.169;SOR=1.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:163,32,35:230:99:.:.:958,138,6834,0,5482,6973	5	0	15	0
chr11	1018227	1018227	-	GAGGTTTTG	exonic	MUC6	.	nonframeshift insertion	MUC6:NM_005961:exon31:c.4573_4574insCAAAACCTC:p.S1524_L1525insPKP,	.	.	407	1107	6	0	2	8	0.0027027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199616524	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.072e-05	0.0009	2.702e-05	1.414e-05	6.925e-05	5.51e-06	2.53e-06	5.11e-06	1.91e-06	0	0	6.925e-05	0	0	0	0	3.08e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	76.19	174	chr11	1018227	.	A	AGAGGTTTTG,*	76.19	.	AC=1,2;AF=0.028,0.056;AN=36;BaseQRankSum=-3.980e-01;DP=3891;ExcessHet=0.3300;FS=0.901;InbreedingCoeff=-0.1200;MLEAC=1,2;MLEAF=0.028,0.056;MQ=56.92;MQRankSum=-6.414e+00;QD=0.13;ReadPosRankSum=-1.720e+00;SOR=0.758	GT:AD:DP:GQ:PL	0/2:200,0,34:234:99:811,1290,9645,0,8247,8506	15	0	1	3
chr11	1018227	1018227	A	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	76.19	174	chr11	1018227	.	A	AGAGGTTTTG,*	76.19	.	AC=1,2;AF=0.028,0.056;AN=36;BaseQRankSum=-3.980e-01;DP=3891;ExcessHet=0.3300;FS=0.901;InbreedingCoeff=-0.1200;MLEAC=1,2;MLEAF=0.028,0.056;MQ=56.92;MQRankSum=-6.414e+00;QD=0.13;ReadPosRankSum=-1.720e+00;SOR=0.758	GT:AD:DP:GQ:PL	0/2:200,0,34:234:99:811,1290,9645,0,8247,8506	15	0	1	3
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	0/1:190,34,5:229:99:.:.:834,0,8053,1270,7790,9546	5	0	5	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L,	.	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.32	T	-1.013	T	0.014	T	0.033	-1.839	0.009	-4.82	-3.424	-4.810	0.642	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	5589.96	253	chr11	1018290	.	G	A,C	5589.96	.	AC=10,5;AF=0.238,0.119;AN=42;BaseQRankSum=4.42;DP=5021;ExcessHet=17.4423;FS=18.255;InbreedingCoeff=-0.5555;MLEAC=10,5;MLEAF=0.238,0.119;MQ=55.33;MQRankSum=-6.736e+00;QD=1.48;ReadPosRankSum=0.802;SOR=2.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:195,24,38:257:99:.:.:1009,588,8704,0,7180,8074	6	0	10	0
chr11	1085182	1085182	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.062	B	0.006	B	0.766	N	1.000	N	0.2	N	-1.21	T	-0.671	T	0.423	T	0.082	-0.065	3.684	-0.841	-0.347	0.011	9.763	0.175	0.0470070870377	0.0004	0.000599042	0.0008	0	0.0003	0	0	0.0009	0.0012	0.0017	0.0006274	97	154602	rs375576703	0.0009	0.0009	0.0009	0.0010	0.0020	0.0009	0.0009	0.0017	0.0016	0.0001	0	3.828e-05	7.557e-05	0.0005	0.0007	0.0010	0.0011	0.0020	0.0005	0.0005	0.0006	0.0005	0.0017	0.0004	0.0004	0.0008	0.0006	0.0002	0	6.532e-05	0	0	0.0004	0	0.0009	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	2859.11	33	chr11	1085182	.	C	T	2859.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.238e+00;DP=958;ExcessHet=0.1072;FS=0.455;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.817;SOR=0.747	GT:AD:DP:GQ:PL	0/1:74,62:136:99:1313,0,1788	19	0	2	0
chr11	1095948	1095948	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	143278.47	224	chr11	1095948	.	C	G,*	143278.47	.	AC=40,1;AF=0.952,0.024;AN=42;BaseQRankSum=1.49;DP=4120;ExcessHet=0.0000;FS=1.823;InbreedingCoeff=-0.0244;MLEAC=40,1;MLEAF=0.952,0.024;MQ=54.83;MQRankSum=1.39;QD=32.74;ReadPosRankSum=1.46;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,190,0:193:99:.:.:6890,495,0,6899,568,6972	0	19	1	0
chr11	1095999	1095999	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	158783.66	219	chr11	1095999	.	A	T,C,*	158783.66	.	AC=40,1,1;AF=0.952,0.024,0.024;AN=42;BaseQRankSum=0.638;DP=4365;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,1,1;MLEAF=0.952,0.024,0.024;MQ=58.57;MQRankSum=11.29;QD=24.86;ReadPosRankSum=-1.695e+00;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,217,0,0:217:99:.:.:8669,652,0,8669,652,8669,8669,652,8669,8669	0	19	0	0
chr11	1096086	1096086	G	0	exonic	MUC2	.	.	.	.	.	566	673	252	7	24	290	0.165012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	16587.35	478	chr11	1096086	.	G	C,*	16587.35	.	AC=7,4;AF=0.167,0.095;AN=42;BaseQRankSum=-3.100e-01;DP=7824;ExcessHet=0.0338;FS=4.192;InbreedingCoeff=0.3842;MLEAC=7,4;MLEAF=0.167,0.095;MQ=56.40;MQRankSum=3.42;QD=7.73;ReadPosRankSum=-7.470e-01;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:289,122,0:411:99:0|1:1096086_G_C:3309,0,11162,4177,11526,15703:1096086	13	0	4	0
chr11	1096123	1096123	C	0	exonic	MUC2	.	.	.	.	.	478	865	169	4	6	183	0.0928159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	13067.43	463	chr11	1096123	.	C	*,T	13067.43	.	AC=2,6;AF=0.050,0.150;AN=40;BaseQRankSum=0.051;DP=8687;ExcessHet=0.0303;FS=1.783;InbreedingCoeff=0.3363;MLEAC=2,6;MLEAF=0.050,0.150;MQ=56.41;MQRankSum=2.66;QD=7.92;ReadPosRankSum=0.268;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:351,0,116:467:99:0|1:1096086_G_C:3101,4155,17375,0,13220,12873:1096086	14	0	0	1
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	37726.02	456	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	T,*	37726.02	.	AC=12,8;AF=0.286,0.190;AN=42;BaseQRankSum=2.69;DP=11682;ExcessHet=26.8223;FS=0.000;InbreedingCoeff=-0.7182;MLEAC=12,8;MLEAF=0.286,0.190;MQ=57.74;MQRankSum=-5.520e+00;QD=5.63;ReadPosRankSum=-1.130e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/1:251,137,0:388:99:4894,0,9735,5650,10288,15937	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	0/1:251,137,0:388:99:.:.:4894,0,9735,5650,10288,15937	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	0/1:251,137,0:388:99:.:.:4894,0,9735,5650,10288,15937	1	0	17	1
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	5334.59	473	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*,T	5334.59	.	AC=10,4;AF=0.313,0.125;AN=32;BaseQRankSum=2.94;DP=10251;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.6141;MLEAC=12,5;MLEAF=0.375,0.156;MQ=57.71;MQRankSum=-5.342e+00;QD=1.04;ReadPosRankSum=-1.810e+00;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:251,137,0:388:99:.:.:4894,0,9735,5650,10288,15937	2	0	10	5
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5333	9964.82	473	chr11	1096180	.	C	A,*	9964.82	.	AC=3,13;AF=0.100,0.433;AN=30;BaseQRankSum=1.20;DP=9719;ExcessHet=11.8260;FS=0.000;InbreedingCoeff=-0.6114;MLEAC=4,16;MLEAF=0.133,0.533;MQ=55.18;MQRankSum=-5.213e+00;QD=2.11;ReadPosRankSum=-3.960e-01;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:251,0,137:388:99:.:.:4894,5650,15937,0,10288,9735	0	1	1	6
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:251,137,0:388:99:.:.:4894,0,9735,5650,10288,15937	1	0	11	7
chr11	1096181	1096181	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0051	0.0024	0.0025	0.0031	0.0023	0.0023	0.0022	0.0022	0.0004	0.0017	0.0035	0	0.0156	0.0031	0.0023	0.0036	0.0004	0.0006	0.0013	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	5.841e-05	0	0.0007	0.0008	0	0.0011	0	0.0010	0.0012	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:251,137,0:388:99:.:.:4894,0,9735,5650,10288,15937	1	0	11	7
chr11	1096650	1096650	C	0	exonic	MUC2	.	.	.	.	.	8	102	82	32	2	148	0.417143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15758.34	106	chr11	1096650	.	C	T,*	15758.34	.	AC=9,1;AF=0.225,0.025;AN=40;BaseQRankSum=3.24;DP=2340;ExcessHet=0.0097;FS=1.183;InbreedingCoeff=0.4232;MLEAC=9,1;MLEAF=0.225,0.025;MQ=53.80;MQRankSum=-1.435e+00;QD=20.23;ReadPosRankSum=0.795;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,37,0:100:99:0|1:1096650_C_T:1099,0,1714,1287,1825,3113:1096650	13	3	3	1
chr11	1096664	1096664	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	61688.6	93	chr11	1096664	.	T	C,*	61688.6	.	AC=40,2;AF=0.952,0.048;AN=42;DP=2147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=53.76;QD=30.39;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,75,0:75:99:.:.:2686,224,0,2686,224,2686	0	19	0	0
chr11	1096735	1096735	G	0	exonic	MUC2	.	.	.	.	.	77	124	16	7	2	32	0.107914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	1024.05	19	chr11	1096735	.	G	*,A	1024.05	.	AC=1,7;AF=0.056,0.389;AN=18;BaseQRankSum=2.66;DP=578;ExcessHet=6.7594;FS=42.548;InbreedingCoeff=-0.2647;MLEAC=2,11;MLEAF=0.111,0.611;MQ=49.97;MQRankSum=-7.400e-01;QD=5.25;ReadPosRankSum=0.358;SOR=1.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:11,0,1:12:4:0|1:1096735_G_A:4,37,292,0,255,252:1096735	1	0	1	12
chr11	1096897	1096897	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	3680.93	78	chr11	1096897	.	A	G,*	3680.93	.	AC=18,1;AF=0.600,0.033;AN=30;BaseQRankSum=1.84;DP=894;ExcessHet=0.0009;FS=56.653;InbreedingCoeff=0.4463;MLEAC=23,1;MLEAF=0.767,0.033;MQ=39.56;MQRankSum=-1.082e+00;QD=11.29;ReadPosRankSum=-7.730e-01;SOR=2.505	GT:AD:DP:GQ:PL	1/1:1,17,0:18:44:521,44,0,524,51,531	4	8	2	6
chr11	1098795	1098795	G	0	exonic	MUC2	.	.	.	.	.	679	640	201	0	2	203	0.135719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	9572.22	147	chr11	1098795	.	G	A,*	9572.22	.	AC=7,1;AF=0.194,0.028;AN=36;BaseQRankSum=2.22;DP=3836;ExcessHet=3.7745;FS=1.215;InbreedingCoeff=-0.2250;MLEAC=8,1;MLEAF=0.222,0.028;MQ=35.69;MQRankSum=-3.090e-01;QD=4.86;ReadPosRankSum=0.919;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:174,66,0:240:99:.:.:1173,0,4469,1685,4666,6351	10	0	7	3
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	22453.21	278	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	CGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC,T,*	22453.21	.	AC=8,3,2;AF=0.308,0.115,0.077;AN=26;BaseQRankSum=1.50;DP=6647;ExcessHet=1.2656;FS=0.000;InbreedingCoeff=0.0574;MLEAC=11,4,3;MLEAF=0.423,0.154,0.115;MQ=53.25;MQRankSum=-1.319e+00;QD=10.10;ReadPosRankSum=-2.293e+00;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,89,0,0:206:99:0|1:1099366_T_C:1831,0,2713,2397,3255,7143,2397,3255,7143,7143:1099366	3	2	3	8
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	99733.73	157	chr11	1099370	.	G	A,*	99733.73	.	AC=36,6;AF=0.857,0.143;AN=42;BaseQRankSum=2.61;DP=6688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=36,6;MLEAF=0.857,0.143;MQ=54.00;MQRankSum=1.34;QD=23.82;ReadPosRankSum=0.267;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,204,0:204:99:1|1:1099366_T_C:7198,612,0,7473,636,8282:1099366	0	15	0	0
chr11	1185059	1185059	G	0	exonic	MUC5AC	.	.	.	.	.	444	914	43	0	121	164	0.0229824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	12884.83	715	chr11	1185059	.	G	A,*	12884.83	.	AC=3,6;AF=0.094,0.188;AN=32;BaseQRankSum=5.90;DP=14044;ExcessHet=4.7172;FS=6.096;InbreedingCoeff=-0.3770;MLEAC=4,7;MLEAF=0.125,0.219;MQ=58.38;MQRankSum=-1.742e+01;QD=2.15;ReadPosRankSum=-2.445e+00;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:602,0,196:800:99:.:.:6174,8067,33424,0,25534,27823	7	0	3	5
chr11	1226857	1226857	G	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon4:c.G442A:p.V148I,	.	.	419	1075	27	1	0	29	0.0133089	.	.	175096	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.886	P	0.431	B	.	.	1.000	N	1.55	L	-0.29	T	-0.773	T	0.170	T	0.06	-0.499	1.710	-3.73	-0.685	-0.267	11.339	0.162	.	0.0073	0.00499201	0.0102	0.0026	0.0071	0	0.0160	0.0130	0.0112	0.0082	0.0091849	1420	154602	rs56293203	0.0099	0.0099	0.0097	0.0102	0.0248	0.0098	0.0097	0.0215	0.0202	0.0020	0.0060	0.0079	5.04e-05	0.0168	0.0248	0.0106	0.0085	0.0075	0.0084	0.0084	0.0083	0.0084	0.0120	0.0080	0.0078	0.0113	0.0110	0.0021	0.0022	0.0071	0.0058	0	0.0166	0.0137	0.0120	0.0152	0.0066	0.162	0.23541	T	.	.	.	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	0.999997	0.08975	N	1.085	0.27262	L	-0.29	0.67712	T	-0.73	0.20576	N	0.115	0.10340	-0.7727	0.56709	T	0.170	0.51020	T	9	0.0045601726	0.00095	T	.	.	.	0.162	0.41843	.	.	0.117191471859	0.11215	0.5773453042548944	0.57663	.	.	0.247350245714	0.03494	T	0.020929	0.16390	T	-0.548187	0.00299	T	-0.548533	0.17466	T	0.00244819744290527	0.00025	T	0.528347	0.17454	T	0.046239134	0.07704	0.09315256	0.21988	0.046239134	0.07704	0.09315256	0.21988	-6.032	0.46546	T	.	.	0.067	0.02458	B	.	.	0.349301	0.07226	3.820	0.57689718243420318	0.05825	0.04088	0.09549	N	AEFDBCI	0.081998	0.16599	N	-1.14863621935008	0.05802	0.2654677	-1.33051783104018	0.04041	0.189778	0.0210642125102472	0.13316	0.422189	0.06491	0	0.547309	0.14657	0	0.600433	0.31921	0	0.691587	0.68394	0	.	.	3.68	-3.73	0.04112	-0.180000	0.09747	-1.728000	0.04836	-0.845000	0.02763	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.462:0.0:0.538:0.0	11.339	0.48763	964	0.07719	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	RASSF7	Spleen	.	.	.	Likely benign	0	0	0	0	0	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	1388.98	42	chr11	1226857	.	G	A	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.502e+00;DP=852;ExcessHet=0.0000;FS=4.388;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=-5.800e-01;SOR=0.350	GT:AD:DP:GQ:PL	0/1:46,52:98:99:1403,0,1300	20	0	1	0
chr11	1244769	1244769	T	C	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.T7889C:p.L2630P,	.	.	421	1094	7	0	0	7	0.00318907	.	.	2293134	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.002	B	0.001	B	.	.	1.000	N	1.01	L	2.05	T	-1.000	T	0.037	T	0.117	-0.237	2.858	-3.77	-0.876	-0.943	3.665	0.007	0.00123789400462	.	0.000599042	0.0006	0.0006	0.0007	0.0002	0	0.0005	0.0011	0.0016	0.0009989	26	26028	rs371763448	0.0006	0.0007	0.0006	0.0007	0.0018	0.0006	0.0006	0.0016	0.0015	0.0004	0.0007	7.663e-05	0.0002	7.493e-05	0.0009	0.0006	0.0007	0.0018	0.0006	0.0007	0.0006	0.0007	0.0016	0.0005	0.0005	0.0011	0.0010	0.0005	0	0.0016	0.0003	0.0004	0	0	0.0006	0.0005	0.0013	0.184	0.21634	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.28	0.10031	N	1.86	0.24285	T	-0.37	0.13226	N	0.056	0.02759	-0.9999	0.29945	T	0.037	0.15856	T	9	0.010769725	0.00238	T	0.001238	0.01658	T	0.007	0.00512	.	.	0.043077524339	0.03247	0.2522542839140574	0.25139	.	.	0.210112020373	0.00816	T	0.020343	0.16033	T	-0.662954	0.00060	T	-0.744079	0.03721	T	0.00124382249977216	0.00012	T	0.169883	0.01597	T	0.03697425	0.04650	0.054840896	0.09508	0.03697425	0.04650	0.054840896	0.09507	1.512	0.00082	T	.	.	0.078	0.06942	B	.	.	0.458368	0.08281	5.027	0.2747382530867607	0.01365	0.00098	0.00638	N	AEFI	0.023710	0.01360	N	-1.27686762743339	0.03956	0.1776559	-1.42652532412239	0.02989	0.1385965	5.23272367242991E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.77	0.04062	-0.619000	0.05668	-2.035000	0.04311	-1.147000	0.01432	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.21:0.3112:0.0:0.4788	3.665	0.07790	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	0.04762	6554.11	40	chr11	1244769	.	T	C	6554.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.132e+00;DP=2029;ExcessHet=0.1072;FS=1.101;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.76;MQRankSum=-7.704e+00;QD=12.83;ReadPosRankSum=0.442;SOR=0.680	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:125,109:234:99:.:.:2992,0,3594	19	0	2	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	1|2:0,74,74:148:99:0|1:1630310_C_G:5867,2936,2689,2835,0,2970:1630310	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	1|2:0,74,73:147:99:0|1:1630310_C_G:5808,2873,2622,2841,0,3244:1630310	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	2|2:0,0,74:147:99:1|1:1630310_C_G:3186,3193,3456,251,276,0:1630310	3	3	5	0
chr11	3038130	3038130	C	A	exonic	CARS1	.	nonsynonymous SNV	CARS1:NM_001378140:exon4:c.G196T:p.A66S	.	.	434	1016	66	6	0	78	0.0369668	.	.	701727	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.72	T	0.007	B	0.027	B	0.002	N	1.000	N	0.95	L	0.95	T	-1.024	T	0.042	T	0.07	0.957	8.904	1.89	0.264	0.171	6.191	0.068	.	0.0078	0.00738818	0.0099	0.0014	0.0065	0.0001	0.0030	0.0104	0.0187	0.0228	0.0095212	1472	154602	rs12796489	0.0100	0.0100	0.0094	0.0106	0.0394	0.0099	0.0098	0.0352	0.0335	0.0017	0.0067	0.0121	7.557e-05	0.0040	0.0394	0.0097	0.0110	0.0239	0.0076	0.0076	0.0076	0.0076	0.0232	0.0072	0.0071	0.0197	0.0184	0.0017	0	0.0102	0.0110	0	0.0033	0.0408	0.0105	0.0099	0.0232	0.643	0.04957	T	0.52	0.10465	T	0.003	0.12996	B	0.015	0.20792	B	0.001760	0.38106	N	0.256618	1	0.08975	N	0.325	0.10370	N	0.94	0.43672	T	0.24	0.04533	N	0.146	0.15609	-1.0238	0.22476	T	0.042	0.18035	T	10	0.0089785755	0.00203	T	.	.	.	0.068	0.19811	.	.	0.268211541103	0.26431	0.41422578982597624	0.41338	0.231550034422	0.25707	0.272399067879	0.06456	T	0.065227	0.32635	T	-0.664305	0.00059	T	-0.709419	0.05325	T	0.000694211314457137	0.00006	T	.	.	.	0.05427984	0.10392	0.04404145	0.05617	0.05427984	0.10391	0.04404145	0.05616	-4.286	0.27980	T	.	.	0.080	0.09530	B	.;.;.;.	.;.;.;.	-0.223372	0.02973	0.443	0.88549503278566	0.18065	0.25720	0.22782	N	AEFGBCI	0.105898	0.21146	N	-1.04813854451331	0.07624	0.354797	-1.07389750514943	0.08216	0.4030183	0.999994626051788	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.86	1.89	0.24700	0.330000	0.19460	-0.382000	0.09534	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.1906:0.7114:0.0:0.098	6.191	0.19738	884	0.28482	.;tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain;.;tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1793.98	35	chr11	3038130	.	C	A	1793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.845;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=-1.122e+00;SOR=0.687	GT:AD:DP:GQ:PL	0/1:68,72:140:99:1808,0,1582	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	0/1:144,44:188:99:146,0,3692	5	0	11	5
chr11	5545521	5545521	C	A	exonic	OR52H1	.	startloss	OR52H1:NM_001005289:exon1:c.G3T:p.M1?,	.	.	439	1058	22	3	0	28	0.0130597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.0	B	.	.	1.000	N	.	.	6.92	T	-0.970	T	0.001	T	0.216	1.456	10.81	3.56	2.241	-0.160	9.590	0.155	.	0.0048	0.00239617	0.0058	0.0004	0.0014	0	0.0024	0.0074	0.0068	0.0102	0.0055045	851	154602	rs114189564	0.0058	0.0058	0.0055	0.0061	0.0098	0.0057	0.0056	0.0093	0.0090	0.0005	0.0021	0.0043	0	0.0027	0.0066	0.0062	0.0052	0.0098	0.0048	0.0048	0.0048	0.0048	0.0104	0.0045	0.0044	0.0081	0.0073	0.0009	0	0.0033	0.0063	0	0.0018	0.0068	0.0079	0.0052	0.0104	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999955	0.19072	N	.	.	.	.	.	.	.	.	.	.	.	-0.9700	0.37200	T	0.001	0.00222	T	8	0.00760895	0.00173	T	.	.	.	.	.	0.97	0.99714	.	.	0.28708759228968594	0.28621	.	.	.	.	.	9.5E-4	0.00501	T	-0.628903	0.00097	T	-0.66819	0.07725	T	0.0047659346481068	0.00051	T	0.9	0.65058	D	0.26301256	0.49364	0.15860966	0.37032	0.26301256	0.49364	0.15860966	0.37031	-4.336	0.28678	T	.	.	.	.	.	.	.	0.716324	0.10854	7.530	0.78914939039443543	0.12508	0.10909	0.16277	N	AEFI	0.016768	0.00398	N	-0.754020979868623	0.14523	0.7242117	-0.760954450844543	0.15454	0.8128204	0.00816682051246733	0.11623	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.55	3.56	0.39892	-0.588000	0.05867	.	.	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.7209:0.2791:0.0	9.590	0.38704	710	0.56735	.	.	.	.	.	rs114189564	Uncertain significance	0	0	0	0	0	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	747.98	41	chr11	5545521	.	C	A	747.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.195e+00;DP=842;ExcessHet=0.0000;FS=1.185;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.476;SOR=0.473	GT:AD:DP:GQ:PL	0/1:27,29:56:99:762,0,776	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	2/2:0,0,71,0,0,0:71:99:.:.:3145,3145,3145,215,215,0,3145,3145,215,3145,3145,3145,215,3145,3145,3145,3145,215,3145,3145,3145	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	2/2:0,0,71,0,0,0:71:99:.:.:3145,3145,3145,215,215,0,3145,3145,215,3145,3145,3145,215,3145,3145,3145,3145,215,3145,3145,3145	0	5	0	0
chr11	7089223	7089223	G	A	exonic	RBMXL2	.	nonsynonymous SNV	RBMXL2:NM_014469:exon1:c.G103A:p.V35I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.048	B	0.052	B	0.424	N	1.000	N	1.04	L	-1.85	D	-0.820	T	0.313	T	0.081	0.540	6.923	-4.78	-1.351	1.068	3.255	0.123	0.0238144384479	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1399837056	2.054e-06	2.052e-06	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.322	0.13479	T	0.533	0.10000	T	0.048	0.22112	B	0.052	0.25551	B	0.424363	0.12830	N	0.711267	1	0.08975	N	1.475	0.37068	L	-1.85	0.84267	D	-0.19	0.09965	N	0.075	0.04913	-0.8200	0.53933	T	0.313	0.68282	T	10	0.06692314	0.09249	T	0.023814	0.46796	T	0.123	0.34020	0.402	0.43245	0.171220215726	0.16700	0.16772957478102746	0.16692	0.809954221339	0.66686	0.282779037952	0.07883	T	0.003817	0.03222	T	-0.1524	0.27935	T	-0.441202	0.28672	T	0.0704431235790253	0.08713	T	0.738526	0.35642	T	0.08316938	0.19193	0.062080823	0.12090	0.08316938	0.19193	0.062080823	0.12089	-8.23	0.62627	D	.	.	0.084	0.09578	B	.	.	1.781396	0.22647	15.71	0.91926431805824727	0.21250	0.20856	0.21193	N	AEFDBI	0.034362	0.04242	N	-0.87966359766301	0.11327	0.5460445	-0.913032978874451	0.11786	0.60257	0.00479497694439131	0.10715	0.525926	0.21836	0	0.547309	0.14657	0	0.578056	0.29568	0	0.584449	0.35598	0	.	.	2.39	-4.78	0.02975	0.691000	0.25147	0.301000	0.16978	0.656000	0.54149	0.584000	0.27618	0.000000	0.08366	0.996000	0.76049	0.5081:0.0:0.1867:0.3052	3.255	0.06424	686	0.59327	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3664.98	43	chr11	7089223	.	G	A	3664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=1327;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=0.942;SOR=0.701	GT:AD:DP:GQ:PL	0/1:114,149:263:99:3679,0,2394	20	0	1	0
chr11	10603227	10603227	A	T	exonic	IRAG1	.	nonsynonymous SNV	IRAG1:NM_001206881:exon12:c.T823A:p.C275S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.077	B	0.017	B	0.002	N	1.000	N	0.97	L	2.48	T	-1.054	T	0.025	T	0.28	2.194	13.29	5.63	2.257	2.266	11.243	0.029	0.00360112559653	8.1e-05	.	0.0002	0	0	0	0.0002	0.0003	0	0	0.0001294	20	154602	rs375240782	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	0	6.709e-05	0.0020	0	0.0004	0.0009	0.0001	0.0002	2.32e-05	9.862e-05	0.0001	7.712e-05	0.0001	8.823e-05	6.01e-05	4.883e-05	3.763e-05	2.576e-05	2.414e-05	0	0	0.0009	0	0.0005	0	8.823e-05	0	0	0.266	0.17239	T	0.546	0.11968	T	.	.	.	.	.	.	0.001596	0.38554	N	0.299547	0.752273	0.29625	N	.	.	.	2.48	0.14657	T	-1.34	0.35399	N	0.25	0.35301	-1.0545	0.13172	T	0.025	0.10910	T	10	0.034205467	0.01621	T	0.003601	0.08247	T	0.029	0.06676	.	.	0.355658859761	0.35178	0.24394088943200626	0.24308	0.10099815204	0.11413	0.43475317955	0.29860	T	0.054444	0.29726	T	-0.381109	0.03066	T	-0.525534	0.19735	T	0.0395820292128215	0.03615	T	0.783222	0.41972	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.28664	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.306844	0.29522	18.15	0.8906579547555048	0.18482	0.87987	0.47723	D	AEFBI	0.680831	0.64439	D	-0.147880783383123	0.35325	2.027587	0.0598825068487348	0.42550	2.575718	0.99999517148414	0.74766	0.656854	0.48797	0	0.59043	0.45803	0	0.67347	0.61138	0	0.613276	0.41899	0	.	.	5.63	5.63	0.86108	2.255000	0.42877	6.635000	0.56164	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8635:0.0:0.0:0.1365	11.243	0.48211	415	0.81806	.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3161.28	34	chr11	10603227	.	A	T,*	3161.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.34;DP=912;ExcessHet=0.3300;FS=4.890;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=1.40;SOR=0.982	GT:AD:DP:GQ:PL	0/1:28,71,0:99:99:1910,0,604,1994,817,2811	18	0	2	0
chr11	10603227	10603227	A	0	exonic	IRAG1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3161.28	34	chr11	10603227	.	A	T,*	3161.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.34;DP=912;ExcessHet=0.3300;FS=4.890;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=1.40;SOR=0.982	GT:AD:DP:GQ:PL	0/1:28,71,0:99:99:1910,0,604,1994,817,2811	18	0	2	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	0/2:48,0,38,0,0,0,0:88:99:.:.:1440,1695,4299,0,1965,1723,1695,4299,1965,4299,1695,4299,1965,4299,4299,1695,4299,1965,4299,4299,4299,1695,4299,1965,4299,4299,4299,4299	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	0/2:48,0,38,0,0,0,0:88:99:.:.:1440,1695,4299,0,1965,1723,1695,4299,1965,4299,1695,4299,1965,4299,4299,1695,4299,1965,4299,4299,4299,1695,4299,1965,4299,4299,4299,4299	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	0/2:48,0,38,0,0,0,0:88:99:.:.:1440,1695,4299,0,1965,1723,1695,4299,1965,4299,1695,4299,1965,4299,4299,1695,4299,1965,4299,4299,4299,1695,4299,1965,4299,4299,4299,4299	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	0/2:48,0,38,0,0,0,0:88:99:.:.:1440,1695,4299,0,1965,1723,1695,4299,1965,4299,1695,4299,1965,4299,4299,1695,4299,1965,4299,4299,4299,1695,4299,1965,4299,4299,4299,4299	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	0/2:48,0,38,0,0,0,0:88:99:.:.:1440,1695,4299,0,1965,1723,1695,4299,1965,4299,1695,4299,1965,4299,4299,1695,4299,1965,4299,4299,4299,1695,4299,1965,4299,4299,4299,4299	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	0/2:48,0,38,0,0,0,0:88:99:.:.:1440,1695,4299,0,1965,1723,1695,4299,1965,4299,1695,4299,1965,4299,4299,1695,4299,1965,4299,4299,4299,1695,4299,1965,4299,4299,4299,4299	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	0/1:61,50,0:111:99:.:.:1351,0,2056,1378,2212,3658	6	2	6	4
chr11	13010508	13010508	C	A	exonic	RASSF10	.	nonsynonymous SNV	RASSF10:NM_001080521:exon1:c.C932A:p.A311D,	.	.	340	1165	16	1	0	18	0.0076661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.00419329	0.0082	0	0.0112	0	0.0045	0.0146	0	0.0051	0.0018305	283	154602	rs200457508	0.0064	0.0062	0.0065	0.0064	0.0073	0.0063	0.0063	0.0072	0.0071	0.0012	0.0030	0.0103	0	0.0024	0.0067	0.0073	0.0062	0.0017	0.0042	0.0042	0.0046	0.0037	0.0067	0.0039	0.0038	0.0062	0.0060	0.0014	0.0033	0.0036	0.0072	0	0.0017	0.0137	0.0067	0.0043	0.0017	.	.	.	0.627	0.07267	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	-1.5	0.00507	N	.	.	.	.	.	.	0.129	0.12341	.	.	.	.	.	.	.	0.005890757	0.00132	T	.	.	.	.	.	.	.	0.17948927462	0.17512	0.19620850095321724	0.19537	.	.	0.728413641453	0.71275	T	0.011056	0.09913	T	-0.45404	0.01069	T	-0.419847	0.31093	T	.	.	.	0.305069	0.05837	T	0.19861113	0.41770	0.29247585	0.55275	0.19861113	0.41770	0.29247585	0.55274	-3.397	0.15016	T	.	.	0.057	0.00604	B	.	.	1.401140	0.18154	13.58	0.84258461742934376	0.15187	0.06341	0.12339	N	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.99999994688726	0.74766	0.095506	0.02484	0	0.085267	0.02369	0	0.183864	0.04481	0	0.109499	0.03221	0	0.127789	0.25488	5.06	2.67	0.30756	3.014000	0.49278	7.021000	0.57267	-0.062000	0.16622	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.6881:0.3119:0.0:0.0	10.507	0.44026	898	0.25240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2723.11	81	chr11	13010508	.	C	A	2723.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.23;DP=984;ExcessHet=0.1072;FS=5.952;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.71;ReadPosRankSum=0.939;SOR=0.366	GT:AD:DP:GQ:PL	0/1:36,46:82:99:1383,0,983	19	0	2	0
chr11	19188304	19188304	A	G	exonic	CSRP3	.	nonsynonymous SNV	CSRP3:NM_003476:exon3:c.T113C:p.M38T,	Cardiomyopathy, hypertrophic, 12, Autosomal dominant	.	4	1516	2	0	0	2	0.000659196	0.0018	0.022	526162	Hypertrophic_cardiomyopathy_12|Dilated_cardiomyopathy_1M	MONDO:MONDO:0012804,MedGen:C2677491,OMIM:612124|MONDO:MONDO:0011840,MedGen:C1843808,OMIM:607482,Orphanet:154	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.57	T	0.007	B	0.019	B	0.000	D	1.000	D	-0.03	N	-2.8	D	-0.319	T	0.467	T	0.813	0.854	8.453	5.55	2.115	9.233	15.360	0.477	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs796360127	2.055e-06	2.052e-06	1.363e-06	2.754e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572	0.06145	T	0.419	0.14158	T	0.007	0.14184	B	0.019	0.18783	B	0.000000	0.84330	D	0.034030	1	0.81001	D	0.5	0.13406	N	-2.8	0.91076	D	-1.06	0.27669	N	0.809	0.80572	-0.3191	0.74447	T	0.467	0.79454	T	10	0.40543267	0.55860	T	0.015188	0.35777	T	0.477	0.76881	0.395	0.42099	0.838818041617	0.83727	0.3524922391269627	0.35163	0.102195823215	0.11571	0.879605948925	0.93908	D	0.408644	0.76391	T	0.240179	0.77678	D	0.12271	0.78413	D	0.210642459614633	0.20987	T	0.728627	0.34984	T	0.34883872	0.56976	0.37667954	0.62785	0.34883872	0.56977	0.37667954	0.62785	-4.03	0.24251	T	.	.	0.509	0.64975	A	.;.;.;.	.;.;.;.	3.653389	0.51862	23.2	0.85325616158969364	0.15823	0.98129	0.79847	D	AEFBI	0.971443	0.99350	D	-0.113676626789823	0.36796	2.131844	0.142255271123688	0.46735	2.91454	0.996084843792218	0.34514	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.55	5.55	0.83298	9.220000	0.94329	11.154000	0.87438	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	15.360	0.74179	773	0.48803	Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;.;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-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	795.98	34	chr11	19188304	.	A	G	795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.730e-01;DP=768;ExcessHet=0.0000;FS=3.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=0.748;SOR=0.373	GT:AD:DP:GQ:PL	0/1:40,33:73:99:810,0,1103	20	0	1	0
chr11	31789914	31789915	TT	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729_730del:p.K244Gfs*7	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	1/3:8,11,0,18:38:99:508,193,670,581,568,934,134,0,298,187	0	0	0	0
chr11	31789915	31789915	T	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729delA:p.K244Rfs*29	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	1/3:8,11,0,18:38:99:508,193,670,581,568,934,134,0,298,187	0	0	0	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	0/1:6,2:8:66:66,0,224	19	0	2	0
chr11	48167297	48167297	A	G	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_002843:exon25:c.A3949G:p.M1317V,	Colon cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.97	D	.	.	1.000	D	0.805	L	2.63	T	-1.131	T	0.054	T	0.317	2.630	14.75	5.19	1.968	3.181	11.428	0.116	0.0133980263143	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410374987	1.368e-06	1.368e-06	2.723e-06	0	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.145	0.33109	T	0.997	0.70673	D	0.97	0.72226	D	.	.	.	.	0.700957	0.33421	D	2.34	0.67151	M	2.63	0.12884	T	-2.28	0.50830	N	0.437	0.47580	-1.1313	0.01721	T	0.054	0.23034	T	9	0.35112077	0.51969	T	0.013398	0.32774	T	0.116	0.32463	0.484	0.56621	0.508046185061	0.50445	0.6166418049000811	0.61596	0.423427627327	0.42804	0.457568287849	0.32977	T	0.09897	0.61765	T	-0.263802	0.12459	T	-0.447581	0.27964	T	0.64632385969162	0.38305	D	0.730627	0.34608	T	0.2908677	0.52073	0.28682855	0.54692	0.2908677	0.52073	0.28682855	0.54691	-8.297	0.63075	D	.	.	0.107	0.47305	B	.;.;.	.;.;.	3.561761	0.50119	22.9	0.99281051381076635	0.57903	0.89288	0.49662	D	AEFBI	0.476775	0.52005	N	0.418163666230306	0.62420	4.457726	0.435212293553346	0.63774	4.617878	0.999992606386714	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.19	5.19	0.71428	2.532000	0.45318	.	.	0.691000	0.84096	0.990000	0.36992	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	11.428	0.49268	144	0.94257	.;.;.	.	.	.	.	.	Uncertain significance	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	2165.98	33	chr11	48167297	.	A	G	2165.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.050e-01;DP=858;ExcessHet=0.0000;FS=3.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=0.416;SOR=0.972	GT:AD:DP:GQ:PL	0/1:86,87:173:99:2180,0,2163	20	0	1	0
chr11	55994391	55994391	G	A	exonic	OR5F1	.	nonsynonymous SNV	OR5F1:NM_003697:exon1:c.C235T:p.P79S,	.	.	430	1052	40	0	0	40	0.0186567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	3.755	H	4.6	T	-1.059	T	0.024	T	0.656	2.830	15.42	3.03	1.422	8.704	12.892	0.341	.	0.0025	0.00339457	0.0045	0.0010	0.0032	0	0.0006	0.0044	0.0088	0.0115	0.0041461	641	154602	rs144123172	0.0036	0.0036	0.0033	0.0039	0.0125	0.0035	0.0035	0.0114	0.0111	0.0006	0.0028	0.0146	0	0.0005	0.0125	0.0030	0.0044	0.0120	0.0031	0.0031	0.0032	0.0030	0.0098	0.0029	0.0028	0.0075	0.0067	0.0008	0	0.0046	0.0115	0.0002	0.0003	0	0.0040	0.0038	0.0098	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999765	0.48888	D	3.415	0.91848	M	4.6	0.01868	T	-7.33	0.94566	D	0.434	0.47301	-1.0590	0.12007	T	0.024	0.10013	T	9	0.008101344	0.00184	T	.	.	.	0.341	0.66297	.	.	0.553913597673	0.55050	0.32035287559718434	0.31948	0.0793572366355	0.08926	0.259348064661	0.04813	T	0.044532	0.26845	T	-0.320121	0.06888	T	-0.22222	0.52522	T	0.0579174086102847	0.06836	T	0.908909	0.67748	D	0.80138326	0.83994	0.58413935	0.75887	0.80138326	0.83995	0.58413935	0.75888	-8.388	0.63686	D	.	.	0.386	0.58785	A	.	.	3.739859	0.53550	23.4	0.99841104463419506	0.92143	0.99097	0.91181	D	AEFI	0.600502	0.59311	D	0.645069260386401	0.76049	6.415539	0.446268625743228	0.64478	4.703868	0.893234601683298	0.25901	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.03	3.03	0.34070	6.955000	0.75805	3.671000	0.39437	0.312000	0.19173	1.000000	0.71638	1.000000	0.68203	0.271000	0.23793	0.0:0.0:1.0:0.0	12.892	0.57469	161	0.93754	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	1994.98	67	chr11	55994391	.	G	A	1994.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.59;DP=1355;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.10;MQRankSum=0.262;QD=15.46;ReadPosRankSum=-1.840e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/1:61,68:129:99:2009,0,1602	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|2:208,0,61:269:99:0|1:56375918_A_G:1935,2561,11295,0,8734,8550:56375918	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|2:208,0,61:269:99:0|1:56375918_A_G:1935,2561,11295,0,8734,8550:56375918	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|2:208,0,61:269:99:0|1:56375918_A_G:1935,2561,11295,0,8734,8550:56375918	1	0	3	1
chr11	57741941	57741941	C	T	exonic	SELENOH	.	unknown	UNKNOWN,	.	.	416	1049	52	5	0	62	0.0287037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.989	T	0.126	T	.	1.786	11.93	2.41	0.372	-0.559	4.439	0.023	.	0.0077	0.00419329	0.0103	0.0014	0.0036	0	0.0035	0.0144	0.0114	0.0102	0.007322	1132	154602	rs1127680	0.0066	0.0066	0.0064	0.0068	0.0306	0.0065	0.0064	0.0268	0.0254	0.0009	0.0041	0.0818	0	0.0036	0.0306	0.0050	0.0118	0.0082	0.0061	0.0061	0.0063	0.0060	0.0091	0.0058	0.0057	0.0070	0.0062	0.0008	0	0.0046	0.0841	0	0.0042	0.0204	0.0062	0.0085	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1101.98	33	chr11	57741941	.	C	T	1101.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=849;ExcessHet=0.0000;FS=7.492;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=-5.340e-01;SOR=1.201	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,40:80:99:0|1:57741941_C_T:1116,0,939:57741941	20	0	1	0
chr11	59773224	59773224	A	G	exonic	STX3	.	nonsynonymous SNV	STX3:NM_001178040:exon2:c.A44G:p.Q15R	.	.	428	1092	2	0	0	2	0.000914913	.	.	712899	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.002	B	0.106	N	1.000	D	0	N	1.7	T	-1.102	T	0.026	T	0.216	1.260	10.11	5.21	2.186	2.976	11.387	0.036	.	0.0052	0.00499201	0.0032	0.0070	0.0016	0	0.0048	0.0039	0.0022	0.0004	0.0033247	514	154602	rs2229915	0.0044	0.0044	0.0045	0.0043	0.0109	0.0043	0.0043	0.0100	0.0096	0.0109	0.0019	0.0032	0	0.0052	0.0026	0.0048	0.0043	0.0005	0.0051	0.0051	0.0052	0.0050	0.0073	0.0048	0.0047	0.0067	0.0064	0.0073	0.0231	0.0038	0.0040	0	0.0057	0.0034	0.0045	0.0038	0.0002	0.343	0.12592	T	0.458	0.18560	T	0.0	0.02946	B	0.002	0.06944	B	0.106329	0.19619	N	0.534209	1	0.81001	D	0.895	0.22405	L	1.7	0.37746	T	-0.85	0.23156	N	0.379	0.45047	-1.1021	0.03846	T	0.026	0.10998	T	10	0.0053287446	0.00117	T	.	.	.	0.036	0.09122	.	.	0.667616128244	0.66481	0.24019144987868132	0.23933	0.0981725950448	0.11081	0.670009255409	0.62839	T	0.050449	0.28598	T	-0.498146	0.00586	T	-0.483201	0.24106	T	0.0206665013447125	0.00766	T	0.79622	0.43953	T	0.1974318	0.41607	0.0740622	0.16163	0.1974318	0.41607	0.0740622	0.16162	-4.236	0.28232	T	.	.	0.094	0.14568	B	.;.;.	.;.;.	2.825800	0.37236	20.4	0.92827286030076006	0.22357	0.90593	0.51898	D	AEFDBI	0.560315	0.56877	D	-0.255944421994294	0.30867	1.725208	-0.0501762424452484	0.37481	2.195243	0.999999763463035	0.74766	0.744818	0.98587	0	0.588066	0.40923	0	0.743671	0.96076	0	0.76194	0.99817	0	.	.	5.21	5.21	0.72005	3.952000	0.56399	8.060000	0.76395	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.518000	0.29429	1.0:0.0:0.0:0.0	11.387	0.49034	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2104.98	41	chr11	59773224	.	A	G	2104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.902e+00;DP=928;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=-7.300e-02;SOR=0.663	GT:AD:DP:GQ:PL	0/1:112,98:210:99:2119,0,2895	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|1:92,21:113:99:0|1:61740527_G_C:269,0,3005:61740527	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|1:93,21:114:99:0|1:61740527_G_C:266,0,3047:61740527	0	0	21	0
chr11	61740534	61740534	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1925C:p.I642T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.981	D	0.966	D	0.000	D	1.000	D	2.14	M	1.62	T	-0.753	T	0.179	T	0.931	3.211	16.76	4.41	1.764	7.925	13.945	0.630	0.0533207713132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.981	0.59675	D	0.966	0.71341	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.54	0.74080	M	1.62	0.28189	T	-3.44	0.67477	D	0.962	0.97207	-0.7533	0.57763	T	0.179	0.52536	T	10	0.8921055	0.88555	D	0.053321	0.65423	D	0.630	0.85769	0.681	0.81885	0.304565745084	0.30068	0.7744194937475786	0.77391	0.666986608579	0.59222	0.869130373001	0.92444	D	0.75206	0.93213	D	0.265718	0.80056	D	0.143909	0.79798	D	0.9852654337883	0.76310	D	0.940673	0.77758	D	0.6597242	0.75884	0.5518828	0.74088	0.6597242	0.75885	0.5518828	0.74088	-12.743	0.88276	D	.	.	0.996	0.95780	P	.	.	4.310021	0.65883	24.9	0.99513605803015515	0.68799	0.99537	0.97199	D	AEFBI	0.889702	0.82402	D	0.670673455613988	0.77712	6.727655	0.622032396737468	0.76541	6.510446	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	7.903000	0.86133	7.733000	0.67792	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	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	0.04762	518.13	45	chr11	61740534	.	T	C	518.13	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.553e+00;DP=1567;ExcessHet=0.1072;FS=202.737;InbreedingCoeff=-0.0510;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=2.58;ReadPosRankSum=0.399;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,21:112:99:0|1:61740527_G_C:271,0,3033:61740527	19	0	2	0
chr11	62639415	62639415	A	T	exonic	GANAB	.	nonsynonymous SNV	GANAB:NM_198334:exon3:c.T196A:p.S66T	Polycyctic kidney disease 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.001	B	0.011	B	0.013	N	1.000	D	0.075	N	-2.36	D	-0.794	T	0.364	T	0.068	1.035	9.229	0.783	-0.051	1.201	9.204	0.178	0.0185052366832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.587e-06	6.571e-06	1.287e-05	0	6.569e-05	0	0	.	.	0	0	6.569e-05	0	0	0	0	0	0	0	0.822	0.04069	T	0.905	0.03004	T	0.001	0.07471	B	0.011	0.15521	B	0.012656	0.29101	N	0.353337	0.767948	0.81001	D	0.35	0.11930	N	-2.41	0.88533	D	0.01	0.10656	N	0.14	0.14196	-0.7941	0.55491	T	0.364	0.72491	T	10	0.11424944	0.21489	T	0.018505	0.40597	T	0.178	0.44724	0.59	0.71874	0.437347911502	0.43356	0.6018645898037113	0.60117	0.144314673095	0.16289	0.489129304886	0.37318	T	0.059025	0.31003	T	-0.117118	0.33595	T	-0.406008	0.32687	T	0.0577952265739441	0.06816	T	0.652235	0.32195	T	0.026725117	0.01766	0.04070552	0.04459	0.026725117	0.01766	0.04070552	0.04459	-5.989	0.46188	T	.	.	0.089	0.12037	B	.;.	.;.	1.140088	0.15271	11.72	0.771689832438468	0.11764	0.66146	0.32977	D	AEFGBHI	0.031306	0.03316	N	-0.639983708750584	0.17753	0.9161597	-0.475833660982722	0.22821	1.241466	0.996459798463076	0.34757	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.79	0.783	0.17717	1.257000	0.32536	.	.	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.993000	0.69303	0.4393:0.0:0.0:0.5607	9.204	0.36437	270	0.89404	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1511.98	38	chr11	62639415	.	A	T	1511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.500e-02;DP=847;ExcessHet=0.0000;FS=3.434;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=1.10;SOR=1.078	GT:AD:DP:GQ:PL	0/1:57,59:116:99:1526,0,1396	20	0	1	0
chr11	62787435	62787435	G	A	exonic	TMEM179B	.	nonsynonymous SNV	TMEM179B:NM_001363599:exon1:c.G4A:p.A2T	.	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.049	B	0.02	B	0.000	D	1.000	N	1.935	M	.	.	-0.818	T	0.145	T	0.302	4.424	23.5	3.73	1.173	4.676	8.718	0.063	0.0710885287682	7.8e-05	.	0.0003	0	0.0006	0	0	0.0002	0	0.0007	9.06e-05	14	154602	rs374217510	0.0001	0.0001	7.998e-05	0.0002	0.0016	0.0001	9.668e-05	0.0008	0.0007	0	0.0002	0	0	0	0.0016	6.118e-05	0.0001	0.0009	3.94e-05	3.94e-05	2.568e-05	5.377e-05	6.539e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	0	0	6.539e-05	0	0	0	0	5.878e-05	0.0005	0	0.012	0.54683	D	0.039	0.54541	D	0.049	0.22227	B	0.02	0.19048	B	0.000065	0.52346	D	0.125595	0.731453	0.29825	N	2.615	0.76484	M	.	.	.	-2.85	0.60029	D	0.705	0.73645	-0.8181	0.54053	T	0.145	0.46932	T	9	0.4701207	0.59810	T	0.071089	0.71177	D	0.063	0.18251	.	.	0.239305524855	0.23518	0.8057930500508523	0.80534	0.13454721048	0.15155	0.766670227051	0.76925	T	0.145707	0.48296	T	-0.271688	0.11570	T	-0.260445	0.48781	T	0.376107811927795	0.28033	T	0.371663	0.08799	T	0.20425704	0.42530	0.3111906	0.57126	0.20425704	0.42530	0.3111906	0.57126	-6.342	0.49055	T	.	.	0.214	0.49412	B	.;.	.;.	4.263720	0.64821	24.8	0.99852216537855087	0.93102	0.47304	0.27953	N	ALL	0.592680	0.58829	D	-0.052559423005431	0.39487	2.32948	0.0463383213255315	0.41896	2.524696	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	4.64	3.73	0.41982	5.010000	0.63761	.	.	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.577000	0.30821	0.1041:0.0:0.8959:0.0	8.718	0.33587	740	0.53092	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	782.98	38	chr11	62787435	.	G	A	782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.780e-01;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=0.523;SOR=0.704	GT:AD:DP:GQ:PL	0/1:24,30:54:99:797,0,611	20	0	1	0
chr11	64344322	64344322	G	A	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon14:c.G1781A:p.R594H,	.	.	426	1012	80	4	0	88	0.0416667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-0.695	N	1.97	T	-1.056	T	0.008	T	0.07	-1.404	0.023	-7.57	-4.427	-2.233	1.682	0.007	.	0.0072	0.00798722	0.0107	0.0015	0.0025	0.0002	0.0059	0.0092	0.0213	0.0359	0.0101422	1568	154602	rs74511597	0.0100	0.0100	0.0089	0.0111	0.0371	0.0099	0.0098	0.0361	0.0356	0.0010	0.0030	0.0038	0.0002	0.0082	0.0172	0.0090	0.0095	0.0371	0.0072	0.0072	0.0067	0.0077	0.0329	0.0068	0.0067	0.0288	0.0272	0.0013	0.0252	0.0039	0.0040	0.0004	0.0056	0.0068	0.0104	0.0066	0.0329	0.698	0.04200	T	0.737	0.05036	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	2.59	0.00213	N	0.005	0.00034	-1.0565	0.12646	T	0.008	0.02884	T	9	0.0019658506	0.00027	T	.	.	.	0.007	0.00512	.	.	.	.	0.18676610198172622	0.18594	0.318130370587	0.34044	0.253022998571	0.04093	T	0.00132	0.00800	T	-0.713434	0.00030	T	-0.771813	0.02709	T	0.000664777419222277	0.00006	T	0.210879	0.02555	T	0.014778137	0.00107	0.023305833	0.00345	0.014778137	0.00107	0.023305833	0.00344	-3.914	0.22512	T	.	.	0.059	0.00820	B	.	.	-1.216232	0.00515	0.012	0.26890395915027226	0.01309	0.00549	0.02518	N	AEFDGBI	0.024649	0.01560	N	-2.41341640516398	0.00025	0.001092386	-2.46920267428745	0.00027	0.001200507	0.999999999998934	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.779548	0.98927	0	0.638833	0.57524	0	.	.	3.78	-7.57	0.01176	-1.719000	0.01973	-3.423000	0.02798	-1.923000	0.00505	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2231:0.3559:0.2338:0.1872	1.682	0.02662	596	0.68392	.	.	.	.	.	rs74511597	Likely benign	0	0	0	0	0	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	785.98	39	chr11	64344322	.	G	A	785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.234e+00;DP=841;ExcessHet=0.0000;FS=2.156;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-2.275e+00;SOR=0.446	GT:AD:DP:GQ:PL	0/1:28,32:60:99:800,0,746	20	0	1	0
chr11	64352209	64352209	C	T	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon19:c.C3179T:p.A1060V,	.	.	417	1026	75	4	0	83	0.0388759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.998	D	0.957	D	.	.	0.993	D	1.21	L	1.79	T	-0.935	T	0.145	T	0.544	0.053	4.292	4.87	2.251	2.127	13.511	0.138	.	0.0069	0.00798722	0.0113	0.0017	0.0027	0.0001	0.0031	0.0093	0.0241	0.0396	0.009366	1448	154602	rs148331635	0.0095	0.0095	0.0085	0.0106	0.0373	0.0094	0.0093	0.0362	0.0357	0.0011	0.0029	0.0024	7.638e-05	0.0028	0.0172	0.0087	0.0090	0.0373	0.0062	0.0062	0.0059	0.0065	0.0328	0.0059	0.0058	0.0286	0.0270	0.0013	0.0253	0.0039	0.0026	0.0002	0.0014	0.0068	0.0089	0.0066	0.0328	1.0	0.00964	T	0.235	0.44501	T	0.99	0.63424	D	0.824	0.59271	P	.	.	.	.	0.992665	0.41708	D	1.67	0.42885	L	1.79	0.48142	T	-1.27	0.31981	N	0.425	0.46462	-0.9354	0.43333	T	0.145	0.46805	T	9	0.0042512417	0.00085	T	.	.	.	0.138	0.37187	.	.	0.383921772103	0.37999	0.14051853398084002	0.13974	0.908464596018	0.70945	0.590660095215	0.51587	T	0.001801	0.01223	T	-0.45454	0.01062	T	-0.399232	0.33472	T	0.0128007701019311	0.00218	T	0.827517	0.49142	T	0.09841398	0.23212	0.08995448	0.21065	0.09841398	0.23211	0.08995448	0.21065	-5.196	0.38901	T	.	.	0.203	0.42806	B	.;.	.;.	3.373430	0.46632	22.3	0.93095668118017671	0.22722	0.36718	0.25598	N	AEFDGBCI	0.187824	0.31511	N	-0.0743069484477291	0.38522	2.257493	-0.193573536744565	0.31772	1.801206	0.999998714846914	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.87	4.87	0.62877	0.279000	0.18532	5.827000	0.50131	0.519000	0.23678	0.002000	0.15269	1.000000	0.68203	0.001000	0.02609	0.0:1.0:0.0:0.0	13.511	0.60969	461	0.78683	.;.	.	.	.	.	rs148331635	Uncertain significance	0	0	0	0	0	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	763.98	33	chr11	64352209	.	C	T	763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.050e-01;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=0.303;SOR=0.722	GT:AD:DP:GQ:PL	0/1:34,30:64:99:778,0,896	20	0	1	0
chr11	65580359	65580359	G	A	exonic	EHBP1L1	.	nonsynonymous SNV	EHBP1L1:NM_001099409:exon6:c.G514A:p.A172T	.	.	427	1074	21	0	0	21	0.00968188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.992	D	0.000	D	1.000	D	1.585	L	-0.74	T	0.407	D	0.679	D	0.591	4.882	28.0	5.31	2.473	7.793	14.458	0.447	0.371394906002	0.0004	0.000399361	0.0011	0.0003	0.0005	0.0002	0	0.0004	0.0022	0.0056	0.0008861	137	154602	rs199551986	0.0008	0.0008	0.0006	0.0010	0.0070	0.0007	0.0007	0.0065	0.0063	8.961e-05	0.0004	3.826e-05	0	1.881e-05	0.0040	0.0004	0.0012	0.0070	0.0004	0.0004	0.0004	0.0005	0.0039	0.0004	0.0003	0.0026	0.0021	0.0002	0	0.0005	0	0.0002	0	0	0.0004	0.0005	0.0039	0.022	0.48642	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.000001	0.62929	D	0.000000	0.99999	0.58761	D	2.215	0.62545	M	-0.74	0.85320	T	-3.36	0.72240	D	0.634	0.64733	0.407	0.89203	D	0.679	0.88896	D	10	0.010629058	0.00236	T	0.371395	0.92755	D	0.447	0.74866	.	.	0.938674168669	0.93804	0.45533425564377616	0.45451	0.259595418494	0.28516	0.676835298538	0.63816	T	0.122313	0.67767	T	-0.201702	0.20559	T	-0.0596176	0.66359	T	0.0390820568234655	0.03525	T	0.995075	0.98330	D	0.30694756	0.53520	0.34313014	0.60029	0.30694756	0.53520	0.34313014	0.60028	-10.273	0.75530	D	.	.	0.894	0.82382	P	.;.;.	.;.;.	4.825250	0.78636	26.9	0.99923665458610822	0.98917	0.97831	0.77455	D	AEFGBI	0.828378	0.74748	D	0.726928487087129	0.81398	7.512736	0.721130121449755	0.83984	8.167172	0.999999999940314	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	5.227000	0.65134	11.687000	0.94301	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	14.458	0.67008	280	0.88949	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3766.11	95	chr11	65580359	.	G	A	3766.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.01;DP=1734;ExcessHet=0.1072;FS=1.806;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.836;SOR=0.808	GT:AD:DP:GQ:PL	0/1:97,87:184:99:2214,0,2260	19	0	2	0
chr11	66591701	66591701	C	T	exonic	CCDC87	.	nonsynonymous SNV	CCDC87:NM_018219:exon1:c.G1315A:p.V439I,	.	.	426	1094	2	0	0	2	0.000913242	.	.	2344668	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.004	B	0.005	B	0.468	N	1.000	N	1.39	L	1.47	T	-1.000	T	0.060	T	0.044	0.938	8.824	-1.72	-0.157	0.095	5.615	0.010	0.00320098348409	0.0004	.	0.0004	0	0.0003	0	0	0.0006	0	0.0002	0.0002911	45	154602	rs143106957	0.0004	0.0004	0.0004	0.0004	0.0024	0.0003	0.0003	0.0015	0.0012	8.968e-05	0.0004	3.829e-05	0	0	0.0024	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	7.217e-05	0	0.0004	0	0	0	0.0034	0.0005	0.0005	0	0.321	0.13522	T	0.22	0.25907	T	0.004	0.12183	B	0.005	0.11217	B	0.468410	0.04912	N	1.398570	1	0.08975	N	1.5	0.37844	L	1.47	0.31987	T	-0.33	0.12472	N	0.066	0.03841	-1.0004	0.29803	T	0.060	0.24981	T	10	0.022217035	0.00549	T	0.003201	0.07026	T	0.010	0.01040	.	.	0.17948927462	0.17512	0.05560351241801656	0.05501	0.111153288707	0.12538	0.290364086628	0.08976	T	0.009059	0.08271	T	-0.600254	0.00145	T	-0.743622	0.03740	T	0.0114834506869783	0.00173	T	0.435056	0.11905	T	0.029857267	0.02551	0.026878115	0.00803	0.029857267	0.02550	0.026878115	0.00803	-4.148	0.25995	T	.	.	0.093	0.13969	B	.	.	0.180545	0.05683	2.129	0.914081289628211	0.20675	0.01163	0.04190	N	AEFBI	0.040218	0.05950	N	-0.863282496923156	0.11724	0.5674002	-0.895363960527544	0.12203	0.6263561	0.999713398045902	0.42101	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.3	-1.72	0.07671	0.100000	0.15067	-0.756000	0.07556	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.555000	0.30293	0.0:0.2971:0.1738:0.5291	5.615	0.16706	61	0.97388	.	.	.	.	.	.	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	1195.98	33	chr11	66591701	.	C	T	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=-2.310e-01;SOR=0.657	GT:AD:DP:GQ:PL	0/1:47,46:93:99:1210,0,1144	20	0	1	0
chr11	66859989	66859989	C	A	exonic	LRFN4	.	nonsynonymous SNV	LRFN4:NM_024036:exon2:c.C1702A:p.P568T	.	.	412	1107	3	0	0	3	0.00135318	.	.	2320025	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.67	T	0.261	B	0.067	B	0.001	D	1.000	D	0	N	0.76	T	-1.059	T	0.060	T	0.215	1.468	10.85	4.72	2.178	0.878	13.176	0.067	0.0628741935213	.	.	0.0002	0	0	0	0	0.0003	0.0020	9.443e-05	0.00011	17	154602	rs770897306	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	9.039e-05	0.0002	0	0	0	0.0006	0.0002	0.0003	3.536e-05	0.0002	0.0002	0.0002	0.0001	0.0010	0.0001	0.0001	0.0007	0.0005	0	0	0.0010	0	0	0	0	0.0002	0	0	0.28	0.15509	T	0.37	0.16473	T	0.261	0.31520	B	0.067	0.27542	B	0.000815	0.41658	D	0.000000	1	0.81001	D	1.28	0.32218	L	0.76	0.49919	T	0.11	0.05706	N	0.267	0.30233	-1.0588	0.12058	T	0.060	0.25237	T	10	0.076803595	0.12044	T	0.062874	0.68790	D	0.067	0.19503	.	.	0.291402777868	0.28757	0.2553135880752536	0.25445	0.254842257115	0.28066	0.804095506668	0.82588	D	0.002998	0.02402	T	-0.394984	0.02497	T	-0.506207	0.21705	T	0.0248229776931015	0.01249	T	0.60094	0.22456	T	0.06823351	0.14847	0.06167666	0.11947	0.06823351	0.14847	0.06167666	0.11947	-5.36	0.40533	T	.	.	0.090	0.12418	B	.	.	2.126398	0.27073	17.34	0.9378945438383296	0.23752	0.30353	0.24061	N	AEFDGBCI	0.086488	0.17536	N	-0.587356422745973	0.19327	1.01067	-0.45175456561358	0.23499	1.281817	0.999999991000309	0.74766	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.72	4.72	0.59248	1.742000	0.37873	3.881000	0.40240	-0.302000	0.06182	0.964000	0.33853	0.999000	0.35428	0.695000	0.33988	0.0:1.0:0.0:0.0	13.176	0.59048	300	0.87974	.	.	.	.	.	.	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	977.98	41	chr11	66859989	.	C	A	977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.140e-01;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=2.30;SOR=0.739	GT:AD:DP:GQ:PL	0/1:24,43:67:99:992,0,481	20	0	1	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.001	B	0.006	B	0.000	D	1.000	D	0.6	N	-1.49	T	-0.718	T	0.281	T	0.218	1.574	11.22	5.54	2.603	6.822	12.661	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3	1346.63	65	chr11	66863811	.	C	T	1346.63	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-4.038e+00;DP=2406;ExcessHet=9.6308;FS=147.397;InbreedingCoeff=-0.4216;MLEAC=12;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.76;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,44:129:92:.:.:92,0,1238	8	0	12	1
chr11	67608412	67608412	C	G	exonic	NDUFV1	.	nonsynonymous SNV	NDUFV1:NM_001166102:exon2:c.C62G:p.T21S	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.005	B	0.013	B	0.000	D	1.000	D	1.89	L	-1.19	T	-0.487	T	0.348	T	0.101	2.699	14.99	3.84	2.474	5.565	11.086	0.249	0.0237339634623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.21634	T	0.231	0.25438	T	0.005	0.12996	B	0.007	0.16460	B	0.000081	0.52346	D	0.167753	0.999951	0.81001	D	1.735	0.44892	L	-1.19	0.78427	T	-1.01	0.48850	N	0.342	0.40465	-0.4870	0.69115	T	0.348	0.71289	T	10	0.3319496	0.50409	T	0.023734	0.46713	T	0.249	0.55752	0.257	0.19845	0.822129434029	0.82045	0.6979377297507748	0.69734	0.238803893762	0.26431	0.763441562653	0.76443	T	0.245562	0.61488	T	-0.078465	0.39963	T	-0.350486	0.39149	T	0.744090855121613	0.42959	D	0.776122	0.40827	T	0.107709534	0.25468	0.062265858	0.12156	0.107709534	0.25468	0.062265858	0.12155	-6.651	0.51440	T	.	.	0.082	0.26576	B	.;.;.;.;.;.	.;.;.;.;.;.	3.411859	0.47334	22.4	0.98490803181232456	0.42096	0.97411	0.74579	D	AEFBI	0.809988	0.73335	D	0.0583570156422493	0.44526	2.725182	0.196330027643671	0.49646	3.165261	0.999999985050494	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.77	3.84	0.43422	5.647000	0.67597	4.850000	0.45366	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9063:0.0:0.0937	11.086	0.47306	774	0.48577	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05556	125.76	122	chr11	67608412	.	C	G	125.76	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-4.092e+00;DP=2510;ExcessHet=0.1072;FS=119.535;InbreedingCoeff=-0.1044;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=0.306;SOR=11.234	GT:AD:DP:GQ:PL	0/1:124,32:172:22:22,0,2207	16	0	2	3
chr11	68312749	68312749	-	GCT	exonic	LRP5	.	nonframeshift insertion	LRP5:NM_002335:exon1:c.35_36insGCT:p.L20_A21insL,	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	.	26	179	10	6	5	27	0.0578947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	951.96	12	chr11	68312746	.	CGCT	CGCTGCT,C	951.96	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-8.330e-01;DP=282;ExcessHet=1.1607;FS=1.068;InbreedingCoeff=-0.1413;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=18.67;ReadPosRankSum=0.100;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,5,0:10:99:.:.:189,0,192,204,207,412	16	0	4	0
chr11	68390002	68390002	C	G	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_002335:exon7:c.C1534G:p.L512V,	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1400524	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.727	P	0.593	P	0.030	U	0.977	D	1.295	L	-2.8	D	0.142	D	0.648	D	0.216	2.438	14.11	2.38	0.981	2.183	11.243	0.364	0.0907175989367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	4.084e-06	0	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.17014	T	0.338	0.18125	T	0.727	0.42493	P	0.593	0.50536	P	0.029885	0.25388	U	0.176683	0.977384	0.39362	D	1.395	0.35261	L	-2.8	0.91076	D	-0.69	0.19720	N	0.485	0.51940	0.142	0.84916	D	0.648	0.87711	D	10	0.5700589	0.65268	D	0.090718	0.75571	D	0.364	0.68407	0.532	0.64002	0.521133362369	0.51758	0.48573491590428614	0.48493	0.513034352344	0.49312	0.515314757824	0.40968	T	0.567731	0.85636	D	-0.0167551	0.49314	T	-0.261844	0.48640	T	0.350177705287933	0.27026	T	0.839616	0.51418	T	0.057007678	0.11291	0.06855427	0.14330	0.057007678	0.11291	0.06855427	0.14330	-6.602	0.51068	T	0.15180928292864604	0.17939	0.092	0.13503	B	.	.	3.453770	0.48109	22.6	0.9958451745229433	0.73218	0.92045	0.54823	D	AEFGBI	0.667450	0.63557	D	0.0763269053429561	0.45361	2.79384	0.0655121972587243	0.42828	2.597388	0.997706946322691	0.35927	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.3	2.38	0.28415	1.207000	0.31938	0.245000	0.16356	0.599000	0.40250	0.993000	0.37899	0.000000	0.08366	0.997000	0.79791	0.0:0.907:0.0:0.093	11.243	0.48211	580	0.69689	.	.	.	.	.	.	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	1254.98	40	chr11	68390002	.	C	G	1254.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.987e+00;DP=841;ExcessHet=0.0000;FS=0.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.711;SOR=0.551	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1269,0,1654	20	0	1	0
chr11	68936492	68936492	C	T	exonic	IGHMBP2	.	nonsynonymous SNV	IGHMBP2:NM_002180:exon13:c.C2012T:p.T671M,	Charcot-Marie-Tooth disease, axonal, type 2S, Autosomal recessive;Neuronopathy, distal hereditary motor, type VI, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	564899	Inborn_genetic_diseases|Autosomal_recessive_distal_spinal_muscular_atrophy_1|Charcot-Marie-Tooth_disease_axonal_type_2S	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011436,MedGen:C1858517,OMIM:604320,Orphanet:98920|MONDO:MONDO:0014511,MedGen:C4015349,OMIM:616155,Orphanet:443073	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.752	P	0.186	B	0.000	N	1.000	N	0.695	N	-2.7	D	-0.378	T	0.488	T	0.096	1.074	9.383	-0.619	0.083	0.908	4.101	0.240	0.0881282425376	7.7e-05	.	2.491e-05	0	0	0	0	4.538e-05	0	0	1.94e-05	3	154602	rs377743886	5.269e-05	5.267e-05	5.855e-05	4.677e-05	6.295e-05	4.279e-05	3.954e-05	5.074e-05	4.653e-05	2.987e-05	0	0	2.519e-05	0	0	6.295e-05	6.624e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-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	0.2	0.20381	T	0.255	0.23365	T	0.752	0.43309	P	0.186	0.36104	B	0.000092	0.00436	N	31.798500	1	0.08975	N	0.41	0.12415	N	-2.7	0.90509	D	-0.62	0.18248	N	0.112	0.09914	-0.3783	0.72704	T	0.488	0.80496	T	10	0.1111044	0.20792	T	0.088128	0.75073	D	0.240	0.54500	.	.	0.771949967676	0.76985	0.30291212209905927	0.30204	0.242229722905	0.26737	0.369507104158	0.20762	T	0.16215	0.50669	T	-0.212851	0.18979	T	-0.413071	0.31872	T	0.198545381426811	0.20335	T	0.255674	0.03967	T	0.017096892	0.00246	0.026728285	0.00779	0.017096892	0.00245	0.026728285	0.00779	-6.805	0.52596	T	.	.	0.092	0.13597	B	.	.	0.590459	0.09587	6.364	0.96073008159028672	0.28629	0.23661	0.22148	N	AEFDBI	0.071927	0.14337	N	-0.888123882011097	0.11125	0.5351733	-1.01817831982692	0.09385	0.4666485	0.297626576186205	0.19155	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.86	-0.619	0.10991	0.465000	0.21715	-1.633000	0.05020	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3564:0.3364:0.3072	4.101	0.09488	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	0.02381	1533.98	98	chr11	68936492	.	C	T	1533.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=1525;ExcessHet=0.0000;FS=1.534;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=-1.500e-02;SOR=0.516	GT:AD:DP:GQ:PL	0/1:53,58:111:99:1548,0,1240	20	0	1	0
chr11	72822216	72822216	C	T	exonic	ATG16L2	.	nonsynonymous SNV	ATG16L2:NM_001318766:exon5:c.C247T:p.R83C	.	.	403	1116	3	0	0	3	0.00134228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.901	P	0.000	N	0.982	D	0.805	L	-1.68	D	-0.410	T	0.584	D	0.459	4.541	24.5	3.53	1.051	0.606	10.102	0.470	0.928005812784	.	.	0.0003	0	0	0	0	0.0006	0	0.0002	3.23e-05	5	154602	rs767460946	8.056e-05	8.003e-05	6.857e-05	9.288e-05	0.0012	6.823e-05	6.345e-05	0.0005	0.0003	0	0.0001	0.0006	0	0	0.0012	6.27e-05	7.101e-05	0.0002	7.89e-05	7.881e-05	0.0001	1.346e-05	0.0001	4.5e-05	3.514e-05	4.769e-05	3.341e-05	0	0	6.546e-05	0.0012	0	0	0	0.0001	0	0	0.002	0.72154	D	0.015	0.61642	D	0.999	0.77913	D	0.901	0.63994	P	0.000000	0.00162	N	24.023400	0.981897	0.39828	D	2.3	0.65703	M	-1.68	0.82897	D	-4.03	0.74348	D	0.203	0.22486	-0.4096	0.71723	T	0.584	0.85043	D	10	0.31100553	0.48573	T	0.928006	0.99476	D	0.470	0.76421	0.56	0.67958	0.742893336538	0.74058	0.14388019497471266	0.14311	3.17835944952	0.99455	0.790921211243	0.80584	T	0.238149	0.60599	T	-0.115788	0.33813	T	-0.13967	0.60146	T	0.176438979078216	0.19008	T	0.864413	0.56163	D	0.46247044	0.64824	0.33459193	0.59283	0.46247044	0.64825	0.33459193	0.59282	-6.824	0.52737	T	.	.	0.159	0.35140	B	.	.	4.189352	0.63134	24.5	0.99857176261049185	0.93548	0.64696	0.32491	D	ALL	0.136546	0.25725	N	0.0472694141176337	0.44017	2.683515	-0.0279770696805741	0.38458	2.265967	0.999999999999996	0.74766	0.685219	0.55550	0	0.504199	0.08210	0	0.674405	0.61402	0	0.003489	0.00041	3	.	.	4.46	3.53	0.39533	0.588000	0.23626	2.290000	0.31953	0.593000	0.32247	0.001000	0.13787	0.462000	0.25007	0.848000	0.40082	0.0:0.7962:0.2038:0.0	10.102	0.41687	508	0.75398	Autophagy-related protein 16	.	.	.	.	.	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	904.98	33	chr11	72822216	.	C	T	904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.240e-01;DP=731;ExcessHet=0.0000;FS=4.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.25;ReadPosRankSum=0.321;SOR=0.697	GT:AD:DP:GQ:PL	0/1:13,34:47:99:919,0,260	20	0	1	0
chr11	90086160	90086160	G	A	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G211A:p.G71S,	.	.	445	1075	2	0	0	2	0.000929368	.	.	2226937	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0001	0	0	0	0.0002	0.0015	0.0008	3.84e-05	1	26028	rs763880955	0.0003	0.0003	0.0002	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	3.05e-05	2.927e-05	0	0	0	0.0033	0.0002	0.0002	0.0010	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	2.476e-05	0	0.0003	0	0	0	0	0.0003	0	0.0002	.	.	.	0.426	0.13872	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.55	0.14455	N	.	.	.	.	.	.	0.058	0.02964	.	.	.	.	.	.	.	0.020612895	0.00478	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.20816233725081623	0.20732	.	.	0.457246750593	0.32933	T	0.011489	0.10242	T	-0.34886	0.04799	T	-0.553617	0.16980	T	.	.	.	0.423058	0.11286	T	0.028026894	0.02078	0.061814096	0.11996	0.028026894	0.02078	0.061814096	0.11996	-3.457	0.15835	T	.	.	0.104	0.18991	B	.	.	-0.100610	0.03638	0.723	0.59816043362934268	0.06314	0.00260	0.01424	N	AEFI	.	.	.	.	.	.	.	.	.	1.06531468985442E-4	0.05123	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0721292	0.16917	1.06	-2.13	0.06745	-1.504000	0.02379	-10.809000	0.00663	-2.167000	0.00367	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3409:0.3285:0.1786:0.1521	0.960	0.01307	911	0.21964	.	.	.	.	.	.	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	0.025	1122.33	38	chr11	90086160	.	G	A	1122.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.69;DP=891;ExcessHet=0.0000;FS=4.171;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=50.81;MQRankSum=-9.220e-01;QD=13.36;ReadPosRankSum=1.50;SOR=0.804	GT:AD:DP:GQ:PL	0/1:43,41:84:99:1136,0,1071	19	0	1	1
chr11	93370164	93370164	C	T	exonic	DEUP1	.	nonsynonymous SNV	DEUP1:NM_181645:exon6:c.C524T:p.S175F,	.	.	452	1047	20	3	0	26	0.0122642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.981	D	0.000	D	1.000	D	1.845	L	1.94	T	-1.016	T	0.097	T	0.728	4.122	21.3	5.5	2.584	3.401	18.413	0.183	.	0.0072	0.00339457	0.0102	0.0026	0.0103	0	0.0030	0.0116	0.0241	0.0167	0.0066881	1034	154602	rs34205920	0.0088	0.0090	0.0085	0.0090	0.0153	0.0086	0.0086	0.0146	0.0144	0.0012	0.0063	0.0171	0	0.0021	0.0065	0.0090	0.0093	0.0153	0.0066	0.0066	0.0070	0.0061	0.0143	0.0062	0.0061	0.0116	0.0106	0.0017	0.0461	0.0076	0.0164	0.0002	0.0019	0.0136	0.0089	0.0071	0.0143	0.005	0.78490	D	0.012	0.64786	D	0.999	0.77913	D	0.972	0.72692	D	0.000059	0.53742	D	0.081678	0.987964	0.40680	D	2.125	0.59049	M	1.94	0.22678	T	-2.91	0.62518	D	0.416	0.45615	-1.0156	0.25143	T	0.097	0.36496	T	10	0.008488923	0.00192	T	.	.	.	0.183	0.45592	.	.	0.643164361049	0.64021	0.39280954524381106	0.39195	0.17326477445	0.19515	0.562373280525	0.47602	T	0.162927	0.50778	T	-0.302329	0.08441	T	-0.195375	0.55084	T	0.0177573481128435	0.00505	T	0.913309	0.70392	D	0.55491143	0.70229	0.58325815	0.75838	0.55491143	0.70230	0.58325815	0.75839	-7.158	0.55179	T	.	.	0.243	0.53891	B	.;.;.;.	.;.;.;.	4.526798	0.71028	25.6	0.9979570481708312	0.88106	0.92133	0.55018	D	AEFDBI	0.520851	0.54554	D	0.66466072990148	0.77321	6.652248	0.655063634552734	0.78989	6.98842	0.780320994261746	0.23830	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	3.471000	0.52871	7.543000	0.60123	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.413	0.90504	639	0.64210	Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal	C11orf54	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	1141.98	33	chr11	93370164	.	C	T	1141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.459;DP=848;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.22;ReadPosRankSum=0.286;SOR=0.693	GT:AD:DP:GQ:PL	0/1:86,53:139:99:1156,0,2148	20	0	1	0
chr11	94104605	94104605	C	A	exonic	HEPHL1	.	nonsynonymous SNV	HEPHL1:NM_001098672:exon16:c.C2760A:p.D920E,	.	.	439	1030	50	3	0	56	0.026465	.	.	3213399	HEPHL1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.33	T	0.955	P	0.612	P	0.000	D	0.865	N	1.37	L	-5.07	D	0.667	D	0.858	D	0.611	2.410	14.02	-1.63	-0.498	-0.226	11.957	0.573	.	0.0035	0.00579073	0.0081	0.0005	0.0039	0.0001	0.0082	0.0060	0.0156	0.0277	0.0071539	1106	154602	rs148114445	0.0066	0.0066	0.0058	0.0074	0.0279	0.0065	0.0065	0.0270	0.0266	0.0008	0.0034	0.0158	0.0001	0.0094	0.0125	0.0051	0.0077	0.0279	0.0047	0.0047	0.0044	0.0050	0.0266	0.0044	0.0043	0.0229	0.0214	0.0004	0	0.0031	0.0150	0.0004	0.0098	0.0238	0.0051	0.0057	0.0266	0.251	0.17069	T	0.421	0.14075	T	0.955	0.54515	P	0.612	0.51145	P	0.000000	0.84330	D	0.000000	0.864956	0.28297	N	2.56	0.74772	M	-5.07	0.98648	D	-0.93	0.24898	N	0.458	0.49511	0.667	0.92763	D	0.858	0.95278	D	10	0.0048802793	0.00104	T	.	.	.	0.573	0.82686	0.373	0.38503	0.312001716656	0.30816	0.649742882392639	0.64910	0.264314548464	0.28980	0.54286056757	0.44850	T	0.008359	0.07680	T	-0.169378	0.25330	T	0.00487325	0.70652	D	0.0454317492620898	0.04681	T	0.763224	0.38939	T	0.11625681	0.27423	0.12888005	0.30998	0.11625681	0.27423	0.12888005	0.30997	-7.378	0.56750	T	.	.	0.717	0.73646	P	.	.	1.523259	0.19552	14.32	0.99176371962165932	0.54556	0.63278	0.32040	D	AEFBI	0.270150	0.38628	N	-0.500907730539434	0.22051	1.174723	-0.612804354904618	0.19165	1.027009	0.400691816930855	0.20128	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.66	-1.63	0.07900	-0.267000	0.08648	-1.019000	0.06586	-0.170000	0.11276	0.545000	0.27306	0.000000	0.08366	0.948000	0.49324	0.0:0.3992:0.0:0.6008	11.957	0.52272	725	0.54935	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3926.11	34	chr11	94104605	.	C	A	3926.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.19;DP=1004;ExcessHet=0.1072;FS=0.390;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-2.990e-01;SOR=0.670	GT:AD:DP:GQ:PL	0/1:107,82:189:99:1969,0,2493	19	0	2	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	1/1:1,102,0:103:99:.:.:4259,302,0,4261,309,4268	0	17	3	0
chr11	102083149	102083149	C	T	exonic	CFAP300	.	nonsynonymous SNV	CFAP300:NM_001363505:exon6:c.C682T:p.R228C	.	.	.	.	.	.	.	.	.	.	.	1673374	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.74	M	.	.	0.160	D	0.554	D	0.856	3.217	16.78	5.85	2.773	4.349	19.761	0.402	0.0196262632994	0.0002	.	0.0008	0	0	0	0.0095	0.0004	0.0055	0.0001	0.0006274	97	154602	rs199754694	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0001	0.0001	0	0	0	0	0.0077	0.0004	0.0001	0.0003	5.177e-05	0.0008	0.0008	0.0005	0.0011	0.0003	0.0007	0.0006	0.0002	0.0002	0	0	0	0	0	0.0093	0	0.0003	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000009	0.62929	D	0.111228	1	0.81001	D	.	.	.	.	.	.	-6.48	0.91522	D	0.742	0.74189	0.160	0.85220	D	0.554	0.83714	D	9	0.01345405	0.00285	T	0.019626	0.42042	T	0.402	0.71558	.	.	0.397838977388	0.39401	0.6586120345125259	0.65798	0.296031586504	0.31989	.	.	.	0.450544	0.79162	T	0.0916386	0.63374	D	0.275824	0.86894	D	0.314283013343811	0.25589	T	0.90351	0.66162	D	0.55164206	0.70047	0.55351985	0.74180	0.5705614	0.71093	0.47705978	0.69703	-6.605	0.51092	T	0.8524982137200119	0.91826	0.356	0.56978	A	.	.	5.162112	0.86499	28.9	0.99896201395295592	0.96895	0.93366	0.58024	D	AEFI	0.616943	0.60332	D	0.723642464063522	0.81183	7.462696	0.652843280005214	0.78823	6.954376	0.154896683155306	0.17500	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.85	5.85	0.93663	4.524000	0.60267	5.955000	0.51719	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.599000	0.31363	0.0:1.0:0.0:0.0	19.761	0.96315	586	0.69252	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.08333	189.24	70	chr11	102083149	.	C	T	189.24	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-3.124e+00;DP=957;ExcessHet=0.3300;FS=358.384;InbreedingCoeff=-0.1253;MLEAC=3;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=-1.140e-01;SOR=8.862	GT:AD:DP:GQ:PL	0/1:51,25:76:76:76,0,576	15	0	3	3
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.002	B	0.003	B	0.000	D	0.991	D	1.5	L	.	.	-0.882	T	0.177	T	0.291	2.535	14.44	5.88	2.782	0.899	9.319	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,50,0:183:99:0|1:106010659_C_T:1033,0,4947,1431,5094,6525:106010659	4	0	6	5
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.789	P	0.266	B	0.000	D	0.997	D	1.5	L	.	.	-0.909	T	0.128	T	0.715	2.775	15.24	5.88	2.782	0.899	9.319	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,50,0:183:99:0|1:106010659_C_T:1033,0,4947,1431,5094,6525:106010659	4	0	6	5
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.001	B	0.002	B	0.001	D	0.672	N	0	N	.	.	-1.080	T	0.039	T	0.091	0.671	7.594	3.03	0.836	0.969	1.144	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4333	6124.11	112	chr11	106010660	.	C	G	6124.11	.	AC=13;AF=0.433;AN=30;BaseQRankSum=-2.788e+00;DP=3216;ExcessHet=11.8493;FS=276.657;InbreedingCoeff=-0.6434;MLEAC=16;MLEAF=0.533;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=2.98;SOR=12.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,50:186:99:0|1:106010659_C_T:1024,0,4995:106010659	2	0	13	6
chr11	106010663	106010663	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.002	B	0.004	B	0.000	D	0.902	D	0	N	.	.	-0.984	T	0.104	T	0.262	2.319	13.71	5.88	2.782	2.233	15.669	0.047	0.00279040284091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.902327	0.36202	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9843	0.33998	T	0.104	0.38218	T	9	0.1143381	0.21509	T	0.00279	0.05810	T	0.047	0.12962	0.294	0.25720	0.256793551483	0.25290	0.12417175146048018	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923724	0.37684	T	-0.370463	0.36834	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.089872	0.41597	21.4	0.98105666193469465	0.38310	0.97626	0.75993	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	2573.14	115	chr11	106010663	.	C	T,G	2573.14	.	AC=2,3;AF=0.071,0.107;AN=28;BaseQRankSum=-4.138e+00;DP=2832;ExcessHet=1.1607;FS=230.122;InbreedingCoeff=-0.2534;MLEAC=3,4;MLEAF=0.107,0.143;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=2.64;SOR=10.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:139,0,50:189:99:0|1:106010659_C_T:1016,1431,6598,0,5167,5020:106010659	9	0	2	7
chr11	106010663	106010663	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255C:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.002	B	0.004	B	0.000	D	0.906	D	0	N	.	.	-0.988	T	0.104	T	0.262	2.196	13.30	5.88	2.782	2.233	15.669	0.043	0.0028274219259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.905747	0.36282	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9883	0.33027	T	0.104	0.38218	T	9	0.11421201	0.21482	T	0.002827	0.05927	T	0.043	0.11576	0.294	0.25720	0.256793551483	0.25290	0.12417172391841125	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923564	0.37687	T	-0.37044	0.36836	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.013320	0.40302	21.1	0.9790952007803857	0.36801	0.97322	0.74021	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	2573.14	115	chr11	106010663	.	C	T,G	2573.14	.	AC=2,3;AF=0.071,0.107;AN=28;BaseQRankSum=-4.138e+00;DP=2832;ExcessHet=1.1607;FS=230.122;InbreedingCoeff=-0.2534;MLEAC=3,4;MLEAF=0.107,0.143;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=2.64;SOR=10.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:139,0,50:189:99:0|1:106010659_C_T:1016,1431,6598,0,5167,5020:106010659	9	0	2	7
chr11	106010664	106010664	A	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.007	B	0.034	B	0.000	D	0.974	D	0	N	.	.	-0.972	T	0.117	T	0.382	2.309	13.68	5.88	2.244	5.797	16.275	0.101	0.00433488665054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.369e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.019	0.69154	D	0.007	0.14184	B	0.034	0.22546	B	0.000001	0.84330	D	0.055431	0.974346	0.39097	D	0	0.06538	N	.	.	.	-0.98	0.25986	N	0.258	0.29197	-0.9720	0.36776	T	0.117	0.41209	T	9	0.18700442	0.34192	T	0.004335	0.10529	T	0.101	0.28911	0.307	0.27806	0.379881503574	0.37595	0.25955710480305316	0.25869	0.399169766946	0.40951	0.666570842266	0.62349	T	0.035133	0.23597	T	0.00410563	0.52221	T	-0.231879	0.51589	T	0.783289670944214	0.45256	D	0.79692	0.44048	T	0.42211768	0.62233	0.30941108	0.56956	0.42211768	0.62233	0.30941108	0.56955	-1.765	0.02407	T	.	.	0.407	0.59964	A	.;.;.	.;.;.	3.510524	0.49159	22.7	0.97899140483582825	0.36731	0.98220	0.80657	D	AEFGBI	0.640959	0.61847	D	-0.0622681486623968	0.39056	2.297149	0.183205801398182	0.48926	3.102239	0.999999972724126	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	6.214000	0.72143	11.169000	0.87908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.275	0.82465	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2222	2371.93	115	chr11	106010664	.	A	G	2371.93	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.480e+00;DP=2731;ExcessHet=0.6776;FS=248.284;InbreedingCoeff=-0.3238;MLEAC=7;MLEAF=0.389;MQ=60.00;MQRankSum=0.00;QD=3.64;ReadPosRankSum=3.40;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,49:187:99:0|1:106010659_C_T:1012,0,4980:106010659	5	0	4	12
chr11	107348964	107348966	CAA	-	exonic	CWF19L2	.	nonframeshift deletion	CWF19L2:NM_152434:exon14:c.2173_2175del:p.L725del,	.	.	435	1037	49	1	0	51	0.024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0083	0.00459265	0.0049	0.0007	0.0025	0	0.0002	0.0037	0.0078	0.0191	0.000461	12	26028	rs368279169	0.0030	0.0030	0.0023	0.0036	0.0209	0.0029	0.0029	0.0184	0.0180	0.0005	0.0022	0.0169	2.532e-05	7.507e-05	0.0209	0.0016	0.0042	0.0191	0.0025	0.0025	0.0022	0.0029	0.0197	0.0023	0.0022	0.0165	0.0153	0.0004	0	0.0019	0.0216	0	9.429e-05	0.0170	0.0022	0.0066	0.0197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2926.07	33	chr11	107348963	.	CCAA	C	2926.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.62;DP=781;ExcessHet=0.1072;FS=1.467;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=23.60;ReadPosRankSum=0.352;SOR=0.898	GT:AD:DP:GQ:PL	0/1:27,44:71:99:1766,0,1001	19	0	2	0
chr11	107803143	107803143	A	G	exonic	SLC35F2	.	nonsynonymous SNV	SLC35F2:NM_017515:exon7:c.T797C:p.V266A,	.	.	421	1090	11	0	0	11	0.00502054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.003	B	0.006	B	0.019	N	0.997	N	0.645	N	-0.37	T	-0.961	T	0.155	T	0.134	0.984	9.017	4.0	0.810	2.045	7.967	0.084	0.0114626208749	0.0002	.	0.0007	0	0.0004	0	0	0.0003	0	0.0038	0.0005498	85	154602	rs199857798	0.0004	0.0004	0.0003	0.0006	0.0045	0.0004	0.0004	0.0036	0.0035	3.015e-05	0.0002	0	0	0	0.0045	0.0002	0.0006	0.0040	0.0001	0.0001	0.0001	0.0001	0.0025	9.142e-05	7.698e-05	0.0014	0.0011	0	0	0.0001	0	0	0	0	8.819e-05	0.0005	0.0025	0.277	0.22138	T	0.342	0.19362	T	0.003	0.11197	B	0.006	0.12133	B	0.019292	0.27290	N	0.376195	0.996883	0.22868	N	-0.515	0.02571	N	-0.37	0.68892	T	-1.39	0.34397	N	0.317	0.36043	-0.9613	0.38936	T	0.155	0.48653	T	10	0.0115739405	0.00252	T	0.011463	0.29107	T	0.084	0.24469	.	.	0.560190409015	0.55679	0.23086117466979056	0.23001	0.173827038796	0.19575	0.488868057728	0.37281	T	0.037063	0.24339	T	-0.478526	0.00754	T	-0.461619	0.26422	T	0.0178742638766483	0.00514	T	0.680832	0.28956	T	0.060384404	0.12385	0.068282165	0.14240	0.060384404	0.12384	0.068282165	0.14240	-7.834	0.62828	D	.	.	0.077	0.06571	B	.;.;.	.;.;.	1.929154	0.24505	16.42	0.9675118362438454	0.30961	0.74507	0.36450	D	AEFBI	0.037118	0.05053	N	-0.443540278589653	0.23959	1.29036	-0.30756533704716	0.27853	1.548569	0.00124241050494706	0.08372	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.13	4.0	0.45673	2.058000	0.41001	3.541000	0.39004	0.691000	0.84096	0.985000	0.35982	1.000000	0.68203	0.527000	0.29637	0.7683:0.0:0.2317:0.0	7.967	0.29266	734	0.53889	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1049.98	33	chr11	107803143	.	A	G	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.639;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=1.61;SOR=0.759	GT:AD:DP:GQ:PL	0/1:60,45:105:99:1064,0,1532	20	0	1	0
chr11	113231236	113231236	G	A	exonic	NCAM1	.	nonsynonymous SNV	NCAM1:NM_001242607:exon10:c.G1130A:p.G377E,	.	.	412	1087	23	0	0	23	0.0104688	.	.	2809854	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0052	0.0018	0	0	0	0.0143	0.0152	0.0012	0.0014748	228	154602	rs117219783	0.0071	0.0067	0.0071	0.0071	0.0151	0.0070	0.0069	0.0125	0.0116	0.0011	0.0027	0.0191	0	0.0022	0.0151	0.0079	0.0070	0.0018	0.0052	0.0052	0.0059	0.0045	0.0085	0.0049	0.0048	0.0079	0.0077	0.0014	0	0.0027	0.0228	0	0.0018	0.0170	0.0085	0.0052	0.0010	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.222	0.27554	.	.	.	.	.	.	.	0.0048000515	0.00102	T	.	.	.	.	.	.	.	0.72745045299	0.72503	0.22365881347720465	0.22280	.	.	0.300282180309	0.10442	T	0.249375	0.61932	T	-0.414135	0.01866	T	-0.36083	0.37956	T	.	.	.	0.443356	0.12326	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24532	B	.;.	.;.	1.011621	0.13907	10.47	0.30373334228533333	0.01658	0.07756	0.13755	N	AEFBI	.	.	.	.	.	.	.	.	.	0.90115533656069	0.26094	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0841549	0.19180	4.73	2.71	0.31092	2.415000	0.44289	2.579000	0.33405	0.676000	0.76740	0.042000	0.21073	0.089000	0.22506	0.004000	0.06068	0.1047:0.0:0.6904:0.205	5.143	0.14300	645	0.63593	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	467.98	33	chr11	113231236	.	G	A	467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.790e-01;DP=746;ExcessHet=0.0000;FS=1.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.36;ReadPosRankSum=-4.950e-01;SOR=0.787	GT:AD:DP:GQ:PL	0/1:34,22:56:99:482,0,906	20	0	1	0
chr11	117918602	117918604	TGG	0	exonic	TMPRSS13	.	.	.	.	.	455	112	9	0	946	955	0.0386266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2892.83	147	chr11	117918602	.	TGG	T,*	2892.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4072;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=60.00;QD=1.03;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,132:132:99:.:.:5684,5684,5684,405,405,0	1	0	0	0
chr11	117918605	117918618	AGATGCCTGGGCTG	0	exonic	TMPRSS13	.	.	.	.	.	453	114	9	0	946	955	0.0379747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2883.83	147	chr11	117918605	.	AGATGCCTGGGCTG	A,*	2883.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4040;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=59.94;QD=1.03;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,132:132:99:.:.:5684,5684,5684,405,405,0	1	0	0	0
chr11	118645556	118645556	G	A	exonic	PHLDB1	.	nonsynonymous SNV	PHLDB1:NM_001144759:exon15:c.G3181A:p.A1061T	.	.	425	1074	23	0	0	23	0.0105942	.	.	3185095	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.904	P	0.27	B	0.000	D	0.842	N	1.765	L	0.14	T	-0.799	T	0.135	T	0.366	2.757	15.18	5.52	2.596	2.954	18.434	0.119	0.0218843976198	0.0012	0.00139776	0.0017	0.0006	0.0014	0	0	0.0022	0.0067	0.0021	0.0017658	273	154602	rs149914355	0.0020	0.0020	0.0019	0.0021	0.0265	0.0020	0.0019	0.0231	0.0218	0.0013	0.0014	0.0042	2.519e-05	0.0003	0.0265	0.0020	0.0024	0.0021	0.0016	0.0016	0.0015	0.0017	0.0023	0.0014	0.0014	0.0020	0.0019	0.0006	0	0.0020	0.0029	0	9.413e-05	0.0238	0.0023	0.0024	0.0021	0.169	0.23631	T	0.108	0.37589	T	0.883	0.48537	P	0.27	0.39872	B	0.000268	0.46590	D	0.223446	0.842181	0.28615	N	1.99	0.53851	M	0.14	0.60854	T	-1.95	0.50337	N	0.584	0.67736	-0.7986	0.55227	T	0.135	0.44875	T	10	0.005960822	0.00134	T	0.021884	0.44718	T	0.119	0.33137	.	.	0.463073977797	0.45932	0.399186374233425	0.39833	0.412149464764	0.41964	0.60329580307	0.53369	T	0.068353	0.33436	T	-0.362783	0.03975	T	-0.298816	0.44848	T	0.0157970065280437	0.00368	T	0.89801	0.68816	D	0.09832869	0.23192	0.13199164	0.31682	0.09832869	0.23192	0.13199164	0.31681	-9.117	0.68446	D	.	.	0.164	0.36234	B	.;.;.;.	.;.;.;.	4.045370	0.59916	24.2	0.99802467459770861	0.88728	0.98675	0.85440	D	AEFBI	0.501452	0.53428	D	0.290172398101105	0.55649	3.728965	0.349266002012558	0.58464	4.016936	0.998958164288081	0.38059	0.719381	0.83141	0	0.59043	0.45803	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	2.643000	0.46271	11.810000	0.96908	0.676000	0.76740	0.987000	0.36337	1.000000	0.68203	0.886000	0.42526	0.0:0.0:1.0:0.0	18.434	0.90584	315	0.87208	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3150.98	34	chr11	118645556	.	G	A	3150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.067e+00;DP=895;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.16;ReadPosRankSum=-5.500e-02;SOR=0.725	GT:AD:DP:GQ:PL	0/1:76,119:195:99:3165,0,1852	20	0	1	0
chr11	121125443	121125443	G	A	exonic	TBCEL-TECTA;TECTA	.	nonsynonymous SNV	TECTA:NM_005422:exon8:c.G1345A:p.V449I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.001	B	0.006	B	0.087	N	0.984	N	1.475	L	0.18	T	-0.985	T	0.118	T	0.067	1.330	10.36	-5.34	-0.561	0.233	11.668	0.112	0.00460918816102	.	.	3.295e-05	0	0	0.0001	0	4.496e-05	0	0	2.59e-05	4	154602	rs776376171	1.71e-05	1.71e-05	1.633e-05	1.788e-05	0.0002	1.174e-05	9.92e-06	8.198e-05	5.784e-05	0	0	0	0.0002	0	0	1.529e-05	1.656e-05	0	4.6e-05	4.597e-05	5.139e-05	4.035e-05	7.35e-05	2.109e-05	1.527e-05	2.846e-05	1.858e-05	4.827e-05	0	0	0	0	0	0	7.35e-05	0	0	0.363	0.11807	T	0.129	0.34837	T	0.001	0.07471	B	0.006	0.12133	B	0.086763	0.20569	N	0.514767	0.984418	0.24802	N	1.925	0.51371	L	0.18	0.60361	T	-0.03	0.07444	N	0.091	0.07262	-0.9850	0.33832	T	0.118	0.41582	T	10	0.049700737	0.04598	T	0.004609	0.11409	T	0.112	0.31546	.	.	0.264547087235	0.26054	0.6841598373123039	0.68354	0.268900675792	0.29402	0.388951003551	0.23521	T	0.138305	0.47171	T	-0.374647	0.03365	T	-0.595635	0.13181	T	0.04568329482861	0.04726	T	0.553245	0.19112	T	0.064116985	0.13572	0.06897109	0.14471	0.064116985	0.13571	0.06897109	0.14471	-4.537	0.31369	T	0.4094821815254526	0.50002	0.054	0.00533	B	.;.;.	.;.;.	1.172445	0.15621	11.99	0.71498671402819924	0.09649	0.16002	0.19184	N	AEFBI	0.117177	0.22966	N	-1.14767981072359	0.05818	0.2662281	-1.12659177966565	0.07195	0.3490933	0.00216706082901592	0.09203	0.553676	0.25195	0	0.59043	0.45803	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.72	-5.34	0.02496	0.106000	0.15191	1.446000	0.26567	-0.697000	0.04075	0.047000	0.21291	0.999000	0.35428	0.989000	0.64315	0.1781:0.1387:0.6832:0.0	11.668	0.50649	783	0.47268	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2135.98	39	chr11	121125443	.	G	A	2135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.361e+00;DP=873;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=0.069;SOR=0.739	GT:AD:DP:GQ:PL	0/1:84,88:172:99:2150,0,2168	20	0	1	0
chr11	125950256	125950256	C	T	exonic	VSIG10L2	.	nonsynonymous SNV	VSIG10L2:NM_001365077:exon4:c.C952T:p.R318C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs962844635	1.389e-05	1.368e-05	8.77e-06	1.961e-05	5.13e-05	8.34e-06	6.61e-06	6.95e-06	5.49e-06	4.353e-05	0	0	0	0	0	1.304e-05	2.289e-05	5.13e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46354735	0.59431	T	.	.	.	.	.	.	.	.	.	0.23885046785574776	0.23799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.665633	0.27494	T	0.1097651	0.25948	0.11495933	0.27750	0.1097651	0.25948	0.11495933	0.27749	-7.056	0.54442	T	.	.	0.168	0.37044	B	.	.	2.945790	0.39182	20.9	0.73548254506793054	0.10368	0.96979	0.71994	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999751727973496	0.42595	0.056701	0.00814	0	0.063388	0.01293	0	0.074216	0.02223	0	0.062806	0.01542	0	0.764818	0.45325	4.44	2.51	0.29435	4.929000	0.63156	1.060000	0.23712	-0.202000	0.08738	1.000000	0.71638	0.000000	0.08366	0.645000	0.32557	0.1483:0.7722:0.0:0.0795	8.874	0.34490	843	0.36859	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	30.58	83	chr11	125950256	.	C	T	30.58	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-9.670e-01;DP=83;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1020;MLEAC=2;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:34:40,0,34	13	0	1	7
chr11	125954167	125954167	A	G	exonic	VSIG10L2	.	nonsynonymous SNV	VSIG10L2:NM_001365077:exon8:c.A1867G:p.I623V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07472432	0.11458	T	.	.	.	.	.	.	.	.	.	0.03791757942230676	0.03737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366163	0.09624	T	0.021468854	0.00751	0.11312661	0.27300	0.021468854	0.00751	0.11312661	0.27300	1.087	0.00121	T	.	.	0.075	0.16231	B	.;.	.;.	-1.573617	0.00254	0.004	0.426788042968752	0.03162	0.01131	0.04113	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999992173191213	0.74766	0.053691	0.00478	0	0.063388	0.01293	0	0.059349	0.00372	0	0.062806	0.01542	0	0.165202	0.28512	4.22	-6.87	0.01511	-0.544000	0.06166	-0.562000	0.08472	-0.274000	0.06627	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.4752:0.2236:0.3012:0.0	6.284	0.20229	858	0.34001	Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	30.61	2	chr11	125954167	.	A	G	30.61	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-9.670e-01;DP=72;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0973;MLEAC=2;MLEAF=0.063;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=0.00;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:32:40,0,32	15	0	1	5
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	0/1:4,6,0:10:99:230,0,150,242,168,410	3	7	5	0
chr11	134253603	134253603	G	T	exonic	ACAD8	.	startloss	ACAD8:NM_014384:exon1:c.G3T:p.M1?,	Isobutyryl-CoA dehydrogenase deficiency	YES	.	.	.	.	.	.	.	.	.	421837	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	0.049	B	0.016	B	0.034	N	1.000	D	.	.	-4.01	D	0.563	D	0.832	D	0.79	3.733	18.96	5.61	2.645	1.795	12.590	0.491	0.994181855931	.	.	8.104e-05	0	0.0008	0.0008	0	0	0	0	1.29e-05	2	154602	rs751940610	8.382e-06	1.368e-05	9.701e-06	7.042e-06	0.0002	4.47e-06	3.53e-06	0.0001	7.575e-05	0	2.432e-05	0	0.0002	0	0	9.096e-07	1.687e-05	1.207e-05	1.313e-05	1.312e-05	2.57e-05	0	0.0004	2.18e-06	8.2e-07	6.86e-05	2.869e-05	0	0	0	0	0.0004	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.02	0.18235	B	0.011	0.15521	B	0.033664	0.24868	N	0.457306	1	0.81001	D	.	.	.	-4.4	0.97419	D	-0.58	0.17417	N	0.767	0.76481	0.563	0.91412	D	0.832	0.94366	D	9	0.98450315	0.98649	D	0.994182	0.99984	D	0.491	0.77783	0.986	0.99859	0.943284361215	0.94269	0.6206535551178631	0.61998	.	.	.	.	.	0.298382	0.67095	T	0.45214	0.92578	D	0.66	0.99401	D	0.995510816574097	0.87564	D	0.9	0.65058	D	0.95435405	0.96708	0.89949656	0.94940	0.95435405	0.96709	0.89949656	0.94940	-9.867	0.73112	D	.	.	.	.	.	.;.	.;.	2.510174	0.32421	19.04	0.9870771449045872	0.45011	0.34532	0.25090	N	AEFGBHCIJ	0.022632	0.01157	N	-0.417388833971235	0.24859	1.345315	-0.396569910620965	0.25098	1.378	0.999999999999998	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	5.61	5.61	0.85347	4.122000	0.57661	4.405000	0.43261	0.676000	0.76740	0.648000	0.28154	1.000000	0.68203	0.003000	0.05239	0.0771:0.0:0.9229:0.0	12.590	0.55791	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	441.98	34	chr11	134253603	.	G	T	441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.646;DP=728;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-2.590e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/1:16,18:34:99:456,0,362	20	0	1	0
chr12	67121	67121	C	T	exonic	IQSEC3	.	nonsynonymous SNV	IQSEC3:NM_001170738:exon1:c.C239T:p.P80L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	.	.	.	.	0.153	U	1.000	N	0	N	1.24	T	-1.071	T	0.036	T	0.134	-1.389	0.024	-1.51	-0.175	2.749	0.853	0.100	0.279117496769	.	.	0.0006	0	0	0	0	0	0	0.0008	.	.	.	.	5.193e-05	6.704e-05	3.174e-05	7.268e-05	0.0008	4.197e-05	3.854e-05	0.0007	0.0006	0	0	0	2.875e-05	0	0.0002	9.325e-07	5.257e-05	0.0008	1.313e-05	3.281e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	0.139	0.25768	T	0.725	0.05256	T	.	.	.	.	.	.	0.152508	0.02973	U	2.367380	1	0.08975	N	0	0.06538	N	1.24	0.36691	T	-1.03	0.27052	N	0.084	0.06059	-1.0706	0.09282	T	0.036	0.15422	T	8	0.059284985	0.07101	T	0.279117	0.90166	D	0.100	0.28662	0.339	0.32979	0.221890330934	0.21812	0.42094689467717294	0.42010	1.75945580792	0.91105	0.763321459293	0.76424	T	0.014399	0.12263	T	-0.533015	0.00369	T	-0.644834	0.09320	T	0.0379923665664958	0.03331	T	0.517048	0.16713	T	0.036408205	0.04471	0.051362526	0.08250	0.036408205	0.04471	0.051362526	0.08250	-5.416	0.41073	T	.	.	0.102	0.17869	B	.	.	1.049236	0.14305	10.88	0.77533228823364775	0.11916	0.03549	0.08749	N	AEFDGBHCI	0.147746	0.27148	N	-1.02404388299492	0.08107	0.3789644	-1.08717868525617	0.07952	0.3889257	0.0136129949470144	0.12488	0.615755	0.39536	0	0.573888	0.26702	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	3.26	-1.51	0.08207	0.291000	0.18748	0.355000	0.17517	-1.170000	0.01400	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1826:0.4022:0.179:0.2362	0.853	0.01102	.	.	.	.	.	.	.	.	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	78.98	37	chr12	67121	.	C	T	78.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=958;ExcessHet=0.0000;FS=5.643;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=33.22;MQRankSum=-2.034e+00;QD=1.44;ReadPosRankSum=1.53;SOR=1.273	GT:AD:DP:GQ:PL	0/1:46,9:55:93:93,0,1171	20	0	1	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	0/1:44,24:76:99:.:.:243,0,646	3	0	18	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	1/2:0,7,59,0,0:68:95:2528,2246,2291,282,0,95,2531,2315,276,2591,2531,2315,276,2591,2591	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	1/2:0,7,59,0,0:68:95:2528,2246,2291,282,0,95,2531,2315,276,2591,2531,2315,276,2591,2591	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	1/2:0,7,59,0,0:68:95:2528,2246,2291,282,0,95,2531,2315,276,2591,2531,2315,276,2591,2591	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	1/2:0,7,59,0,0:68:95:2528,2246,2291,282,0,95,2531,2315,276,2591,2531,2315,276,2591,2591	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	3/4:0,0,0,24,29,0,0:55:99:.:.:2003,2053,2199,2053,2199,2199,1123,1272,1272,1294,927,933,933,0,839,2053,2199,2199,1272,933,2199,2053,2199,2199,1272,933,2199,2199	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	3/4:0,0,0,24,29,0,0:55:99:.:.:2003,2053,2199,2053,2199,2199,1123,1272,1272,1294,927,933,933,0,839,2053,2199,2199,1272,933,2199,2053,2199,2199,1272,933,2199,2199	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	3/4:0,0,0,24,29,0,0:55:99:.:.:2003,2053,2199,2053,2199,2199,1123,1272,1272,1294,927,933,933,0,839,2053,2199,2199,1272,933,2199,2053,2199,2199,1272,933,2199,2199	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	3/4:0,0,0,24,29,0,0:55:99:.:.:2003,2053,2199,2053,2199,2199,1123,1272,1272,1294,927,933,933,0,839,2053,2199,2199,1272,933,2199,2053,2199,2199,1272,933,2199,2199	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	3/4:0,0,0,24,29,0,0:55:99:.:.:2003,2053,2199,2053,2199,2199,1123,1272,1272,1294,927,933,933,0,839,2053,2199,2199,1272,933,2199,2053,2199,2199,1272,933,2199,2199	1	0	2	0
chr12	7695608	7695608	G	T	exonic	GDF3	.	nonsynonymous SNV	GDF3:NM_020634:exon1:c.C121A:p.P41T,	Klippel-Feil syndrome 3, autosomal dominant;Microphthalmia with coloboma 6;Microphthalmia, isolated 7	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.92	D	0.000	D	0.996	N	2.485	M	-0.5	T	-0.507	T	0.457	T	0.388	1.634	11.42	2.97	0.964	4.929	7.249	0.268	0.0287619160055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.021	0.58089	D	0.995	0.67487	D	0.92	0.65550	D	0.000002	0.62929	D	0.058457	0.995856	0.23183	N	2.93	0.84523	M	-0.5	0.70480	T	-4.6	0.78976	D	0.467	0.50327	-0.5069	0.68399	T	0.457	0.78849	T	10	0.5030568	0.61660	D	0.028762	0.51384	D	0.268	0.58254	0.348	0.34436	0.806632036883	0.80481	0.5050193630384279	0.50423	0.551888430778	0.52018	0.455151617527	0.32648	T	0.666803	0.90065	D	0.0191199	0.54262	T	-0.210312	0.53666	T	0.98982834815979	0.80044	D	0.693131	0.30283	T	0.38922802	0.59977	0.26342615	0.52148	0.38922802	0.59977	0.26342615	0.52147	-6.578	0.50885	T	0.5877231603068275	0.65451	0.207	0.43352	B	.	.	3.971716	0.58326	24.0	0.99595866170894276	0.73925	0.75234	0.36827	D	ALL	0.337373	0.43519	N	0.240835626638711	0.53187	3.488788	0.0507249801278006	0.42107	2.541139	0.999982102950392	0.51787	0.538715	0.22204	0	0.573888	0.26702	0	0.78367	0.99111	0	0.654926	0.60358	0	.	.	3.86	2.97	0.33479	4.051000	0.57125	6.585000	0.56008	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1229:0.0:0.8771:0.0	7.249	0.25315	900	0.24599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2196.98	33	chr12	7695608	.	G	T	2196.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.115;DP=925;ExcessHet=0.0000;FS=2.340;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=-4.910e-01;SOR=0.874	GT:AD:DP:GQ:PL	0/1:124,94:218:99:2211,0,3142	20	0	1	0
chr12	8863976	8863976	C	T	exonic	A2ML1	.	nonsynonymous SNV	A2ML1:NM_001282424:exon18:c.C2212T:p.H738Y	.	.	439	1074	9	0	0	9	0.00417246	.	.	921522	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.002	B	0.003	B	0.277	N	1.000	N	0.55	N	1.23	T	-1.019	T	0.061	T	0.177	2.714	15.04	3.61	1.235	5.288	11.243	0.096	0.00469656653734	.	.	3.314e-05	0	0	0	0	5.998e-05	0	0	2.59e-05	4	154602	rs764222230	2.944e-05	3.01e-05	3.134e-05	2.752e-05	3.481e-05	2.218e-05	1.971e-05	2.37e-05	2.103e-05	0	0	0	2.519e-05	0	0	3.238e-05	4.978e-05	3.481e-05	1.972e-05	1.97e-05	3.855e-05	0	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	0.002	0.78490	D	0.003	0.83351	D	0.002	0.09854	B	0.003	0.08700	B	0.276558	0.15025	N	0.599033	0.999975	0.18612	N	0.345	0.11182	N	1.23	0.36872	T	-1.12	0.28906	N	0.08	0.06990	-1.0194	0.23910	T	0.061	0.25455	T	10	0.19686007	0.35594	T	0.004697	0.11691	T	0.096	0.27654	.	.	0.0482279557977	0.04254	0.3283352006397031	0.32746	0.130355763419	0.14704	0.232237935066	0.02138	T	0.00753	0.14295	T	-0.277383	0.10948	T	-0.46709	0.25830	T	0.195540780947093	0.20166	T	0.39826	0.10085	T	0.18370003	0.39649	0.17638429	0.40169	0.18370003	0.39649	0.17638429	0.40168	-6.652	0.51893	T	.	.	0.127	0.28406	B	.;.;.	.;.;.	2.997805	0.40049	21.1	0.99296168533606244	0.58433	0.94203	0.60426	D	AEFBI	0.370860	0.45708	N	-0.203674597040596	0.32982	1.866192	-0.0525852029814137	0.37378	2.187775	0.510571233138104	0.21015	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.5	3.61	0.40494	5.572000	0.67111	0.847000	0.22099	0.549000	0.26987	1.000000	0.71638	0.000000	0.08366	0.994000	0.71098	0.0:0.9098:0.0:0.0902	11.243	0.48211	712	0.56465	Alpha-macroglobulin complement component;Alpha-macroglobulin complement component;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2245.98	34	chr12	8863976	.	C	T	2245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.600e-02;DP=2111;ExcessHet=0.0000;FS=0.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=0.00;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,89:174:99:0|1:8863976_C_T:2260,0,2150:8863976	20	0	1	0
chr12	8933192	8933192	C	G	exonic	PHC1	.	nonsynonymous SNV	PHC1:NM_004426:exon8:c.C1735G:p.P579A,	.	.	449	1051	22	0	0	22	0.0103578	.	.	2810169	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.009	B	0.004	B	0.028	N	1.000	D	0.345	N	1.56	T	-1.103	T	0.031	T	0.236	0.247	5.333	4.32	2.735	0.511	10.488	0.058	.	.	0.00359425	0.0134	0	0.0046	0	0	0.0178	0	0.0299	0.0025226	390	154602	rs201210657	0.0077	0.0073	0.0078	0.0075	0.0084	0.0075	0.0075	0.0082	0.0082	0.0013	0.0034	0.0011	0	0.0108	0.0030	0.0084	0.0066	0.0056	0.0063	0.0065	0.0061	0.0066	0.0096	0.0060	0.0059	0.0090	0.0087	0.0011	0.0079	0.0070	0.0009	0	0.0114	0.0034	0.0096	0.0031	0.0030	0.018	0.50676	D	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.028378	0.25612	N	0.372588	0.96657	0.81001	D	0.805	0.20218	L	1.56	0.29602	T	-0.92	0.25332	N	0.194	0.21710	-1.1035	0.03693	T	0.031	0.13242	T	10	0.0052458644	0.00114	T	.	.	.	0.058	0.16647	.	.	0.21174354426	0.20776	0.28156049121059595	0.28069	0.727970359096	0.62593	0.437310278416	0.30210	T	0.156719	0.49901	T	-0.508406	0.00512	T	-0.495675	0.22798	T	0.00270492312657262	0.00028	T	0.712729	0.33234	T	0.06320114	0.13281	0.04482734	0.05896	0.06268708	0.13120	0.04482734	0.05896	-3.655	0.18656	T	.	.	0.051	0.00259	B	.;.;.	.;.;.	2.134720	0.27180	17.37	0.70983424013796725	0.09476	0.82891	0.42059	D	AEFDGBI	0.160804	0.28679	N	-0.226141754932948	0.32064	1.80436	-0.0334254884364705	0.38214	2.248346	0.00473759868014255	0.10692	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.27	4.32	0.50899	0.712000	0.25450	1.535000	0.27187	0.599000	0.40250	0.968000	0.34134	0.999000	0.35428	0.997000	0.79791	0.1454:0.7763:0.0:0.0783	10.488	0.43919	601	0.67921	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	617.98	34	chr12	8933192	.	C	G	617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.48;DP=687;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=39.85;MQRankSum=-1.131e+00;QD=14.37;ReadPosRankSum=-7.400e-02;SOR=0.428	GT:AD:DP:GQ:PL	0/1:25,18:43:99:632,0,920	20	0	1	0
chr12	10802390	10802390	C	T	exonic	TAS2R7	.	nonsynonymous SNV	TAS2R7:NM_023919:exon1:c.G181A:p.V61I,	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.001	B	0.006	B	0.799	N	1.000	N	-0.985	N	1.17	T	-0.920	T	0.019	T	0.027	-1.795	0.010	-11.0	-2.291	-0.710	16.650	0.093	0.00659809055997	0.0032	0.00259585	0.0008	0.0095	0	0	0	4.502e-05	0	6.06e-05	0.0007762	120	154602	rs138647952	0.0003	0.0003	0.0003	0.0003	0.0107	0.0003	0.0003	0.0098	0.0095	0.0107	0.0003	3.827e-05	0	0	0.0002	3.238e-05	0.0005	6.956e-05	0.0029	0.0030	0.0029	0.0029	0.0104	0.0027	0.0026	0.0096	0.0093	0.0104	0	0.0007	0	0	0	0	1.471e-05	0.0009	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.006	0.12133	B	0.798592	0.06755	N	1.132670	1	0.08975	N	-0.895	0.01383	N	1.17	0.37910	T	-0.06	0.07882	N	0.029	0.00666	-0.9202	0.45527	T	0.019	0.08033	T	10	0.0032795668	0.00056	T	0.006598	0.17415	T	0.093	0.26882	.	.	0.0482279557977	0.04254	0.03287601747632408	0.03235	0.00421502833054	0.00371	0.200792610645	0.00480	T	0.002821	0.02217	T	-0.731062	0.00023	T	-0.814934	0.01557	T	0.00639845366905763	0.00071	T	.	.	.	0.03378135	0.03665	0.032731976	0.02054	0.03378135	0.03665	0.032731976	0.02053	-3.62	0.18147	T	.	.	0.080	0.07889	B	.	.	-0.977267	0.00804	0.027	0.37367515938834639	0.02458	0.00207	0.01180	N	AEFBI	0.022884	0.01201	N	-1.91603645856677	0.00318	0.01366711	-1.96629256344652	0.00360	0.0159078	0.999999998846023	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.49	-11.0	0.00133	-0.781000	0.04755	-3.361000	0.02846	-1.668000	0.00804	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.098:0.716:0.0:0.186	16.650	0.85045	810	0.42761	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1841.98	36	chr12	10802390	.	C	T	1841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=896;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=1.42;SOR=0.672	GT:AD:DP:GQ:PL	0/1:93,76:169:99:1856,0,2258	20	0	1	0
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|1:0,73,0:73:99:1|1:11353413_G_A:2621,219,0,2621,219,2621:11353413	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|1:0,32,0:32:96:1|1:11353413_G_A:1400,96,0,1400,96,1400:11353413	0	8	4	7
chr12	11393697	11393816	GTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTCGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTT	-	exonic	PRB1;PRB2	.	nonframeshift deletion	PRB1:NM_001367912:exon3:c.262_381del:p.88_127del	.	.	430	1075	15	0	2	17	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	.	.	.	.	0.0002	0.0003	0.0002	0.0003	0.0013	0.0002	0.0002	0.0011	0.0010	0	0.0001	0.0004	5.436e-05	0.0003	0.0002	0.0001	0.0003	0.0013	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	0.0001	0.0016	0.0003	0	0	0	0.0072	0.0003	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	600.94	39	chr12	11393696	.	GGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTCGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTT	G	600.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.59;DP=5652;ExcessHet=0.0000;FS=2.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.09;MQRankSum=-5.618e+00;QD=1.62;ReadPosRankSum=-8.238e+00;SOR=0.862	GT:AD:DP:GQ:PL	0/1:238,132:370:99:615,0,9360	20	0	1	0
chr12	11393752	11393752	C	T	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.G326A:p.R109Q	.	.	453	1033	18	0	18	36	0.00863724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.092	B	0.002	B	.	.	1.000	P	-1.8	N	3.71	T	-0.976	T	0.003	T	0.093	-1.118	0.127	-2.46	-2.070	-1.294	2.776	0.019	.	.	.	0.4222	0.2431	0.4094	0.3162	0.4681	0.4602	0.4311	0.4099	0.001191	31	26028	rs76832300	0.0113	0.0066	0.0104	0.0122	0.0191	0.0110	0.0109	0.0142	0.0125	0.0010	0.0068	0.0437	0.0017	0.0087	0.0191	0.0124	0.0117	0.0094	0.0087	0.0079	0.0086	0.0089	0.0136	0.0081	0.0079	0.0125	0.0120	0.0022	0.0107	0.0066	0.0235	0.0024	0.0078	0.0116	0.0136	0.0022	0.0117	.	.	.	0.637	0.07037	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	3.71	0.04046	T	-0.04	0.07590	N	0.039	0.01274	-0.9762	0.35860	T	0.003	0.00994	T	8	0.0032245219	0.00055	T	.	.	.	0.019	0.03383	.	.	.	.	0.039606789593714	0.03906	0.075177927071	0.08431	.	.	.	.	.	.	-0.741699	0.00020	T	-0.813109	0.01597	T	0.00107057250001736	0.00010	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05274	B	.	.	-0.084743	0.03731	0.770	0.4266095456056942	0.03160	0.00029	0.00276	N	AEFBI	0.015596	0.00305	N	-2.03367369516568	0.00179	0.00766595	-2.0562362833855	0.00232	0.01022055	5.2484378870243E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.23	-2.46	0.06089	-2.259000	0.01260	-0.374000	0.09587	-0.815000	0.03024	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.2053:0.2954:0.0:0.4994	2.776	0.05019	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	0.09091	710.75	39	chr12	11393752	.	C	T,*	710.75	.	AC=1,1;AF=0.045,0.045;AN=22;BaseQRankSum=-4.698e+00;DP=7366;ExcessHet=0.1072;FS=2.715;InbreedingCoeff=-0.2000;MLEAC=2,2;MLEAF=0.091,0.091;MQ=55.98;MQRankSum=-1.338e+01;QD=1.03;ReadPosRankSum=3.01;SOR=0.904	GT:AD:DP:GQ:PL	0/2:238,0,132:370:99:615,1348,10906,0,9559,9360	9	0	1	10
chr12	11393752	11393752	C	0	exonic	PRB1;PRB2	.	.	.	.	.	453	1033	18	0	18	36	0.00863724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	710.75	39	chr12	11393752	.	C	T,*	710.75	.	AC=1,1;AF=0.045,0.045;AN=22;BaseQRankSum=-4.698e+00;DP=7366;ExcessHet=0.1072;FS=2.715;InbreedingCoeff=-0.2000;MLEAC=2,2;MLEAF=0.091,0.091;MQ=55.98;MQRankSum=-1.338e+01;QD=1.03;ReadPosRankSum=3.01;SOR=0.904	GT:AD:DP:GQ:PL	0/2:238,0,132:370:99:615,1348,10906,0,9559,9360	9	0	1	10
chr12	19439895	19439906	GGCGGCGGAGGC	-	exonic	AEBP2	.	nonframeshift deletion	AEBP2:NM_001114176:exon1:c.196_207del:p.G70_G73del	.	.	304	1209	9	0	0	9	0.00370828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	0.00119808	0.0163	0	0.02	0	0	0.0087	0.0208	0.0211	0.0002305	6	26028	rs558021601	0.0012	0.0012	0.0009	0.0016	0.0126	0.0012	0.0011	0.0119	0.0116	3.697e-05	0.0005	0.0057	0	0	0.0077	0.0004	0.0017	0.0126	0.0008	0.0008	0.0006	0.0011	0.0098	0.0007	0.0006	0.0076	0.0068	0.0001	0	0.0009	0.0066	0	0	0	0.0005	0.0005	0.0098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1620.07	36	chr12	19439894	.	GGGCGGCGGAGGC	G	1620.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.192;DP=623;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=23.82;ReadPosRankSum=2.32;SOR=0.671	GT:AD:DP:GQ:PL	0/1:12,16:28:99:636,0,455	19	0	2	0
chr12	26602630	26602630	C	T	exonic	ITPR2	.	nonsynonymous SNV	ITPR2:NM_002223:exon27:c.G3539A:p.R1180Q,	.	.	443	1063	16	0	0	16	0.00746965	.	.	725055	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.62	T	0.001	B	0.001	B	0.064	N	1.000	D	0.935	L	-2.41	D	-0.577	T	0.353	T	0.226	1.344	10.41	3.94	2.677	2.048	7.909	0.218	.	0.0057	0.00279553	0.0044	0.0013	0.0025	0	0.0005	0.0062	0.0056	0.0039	0.0044566	689	154602	rs35862420	0.0060	0.0061	0.0059	0.0062	0.0073	0.0059	0.0059	0.0069	0.0068	0.0012	0.0041	0.0030	0.0001	0.0003	0.0073	0.0070	0.0047	0.0043	0.0054	0.0054	0.0060	0.0048	0.0079	0.0051	0.0050	0.0074	0.0072	0.0013	0.0899	0.0062	0.0043	0.0002	0.0002	0.0272	0.0079	0.0057	0.0033	0.551	0.06564	T	0.583	0.08419	T	0.001	0.07471	B	0.001	0.04355	B	0.063747	0.22002	N	0.498399	0.609463	0.32608	D	0.345	0.11182	N	-2.41	0.88533	D	-1.58	0.38151	N	0.176	0.18920	-0.5768	0.65744	T	0.353	0.71650	T	10	0.006019622	0.00135	T	.	.	.	0.218	0.51265	.	.	0.685097662135	0.68241	0.07574022133302347	0.07510	0.253854614516	0.27951	0.264534235001	0.05443	T	0.350104	0.71787	T	-0.371356	0.03526	T	-0.301077	0.44612	T	0.0133498682260292	0.00241	T	0.947805	0.79866	D	0.07195346	0.15970	0.04891079	0.07364	0.07195346	0.15969	0.04891079	0.07364	-3.458	0.15849	T	.	.	0.067	0.02342	B	.	.	3.898775	0.56773	23.8	0.93916534581051647	0.23955	0.75825	0.37146	D	AEFBI	0.147439	0.27111	N	-0.246391743540757	0.31247	1.750234	-0.0704487662434825	0.36618	2.133331	0.456182915423413	0.20584	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.83	3.94	0.44807	1.717000	0.37612	2.096000	0.30576	0.580000	0.29708	0.982000	0.35529	0.219000	0.23700	0.951000	0.49849	0.0:0.8315:0.0:0.1685	7.909	0.28941	855	0.34697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	196.98	39	chr12	26602630	.	C	T	196.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.050e-01;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.92;ReadPosRankSum=1.58;SOR=0.569	GT:AD:DP:GQ:PL	0/1:28,12:40:99:211,0,668	20	0	1	0
chr12	27501927	27501927	C	T	exonic	SMCO2	.	nonsynonymous SNV	SMCO2:NM_001145010:exon9:c.C838T:p.R280C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.003	B	0.002	B	0.927	N	1.000	N	0.145	N	.	.	-1.042	T	0.050	T	0.224	0.098	4.530	-2.94	-1.139	-0.423	6.326	0.014	0.00112154346176	.	.	6.581e-05	0	0	0	0.0006	0	0	0	6.5e-06	1	154602	rs775991038	1.736e-05	1.711e-05	1.426e-05	2.055e-05	3.311e-05	1.174e-05	9.87e-06	6.77e-06	5.22e-06	3.311e-05	0	0	0	0.0002	0	1.213e-05	1.75e-05	0	1.326e-05	1.317e-05	0	2.712e-05	0.0002	2.2e-06	8.3e-07	.	.	0	0	0	0	0	9.448e-05	0	0	0	0.0002	0.114	0.28646	T	0.135	0.34124	T	0.003	0.11197	B	0.002	0.06944	B	0.926540	0.08451	N	0.961861	1	0.08975	N	0.06	0.08197	N	.	.	.	-1.92	0.44657	N	0.289	0.32701	-1.0415	0.16860	T	0.050	0.21339	T	9	0.025651783	0.00753	T	0.001122	0.01360	T	0.014	0.01968	0.37	0.38013	0.0920862733494	0.08535	0.10763305580383965	0.10692	.	.	0.309601843357	0.11847	T	0.076937	0.35537	T	-0.218998	0.18129	T	-0.552352	0.17101	T	0.0310042990936696	0.02147	T	0.627737	0.24333	T	0.058641892	0.11821	0.054705102	0.09458	0.058641892	0.11821	0.054705102	0.09457	-4.966	0.36469	T	.	.	0.131	0.28203	B	.;.;.	.;.;.	0.637873	0.10061	6.813	0.85176342405939864	0.15731	0.00868	0.03443	N	AEFGBI	0.034825	0.04382	N	-1.62248415304144	0.01156	0.05025145	-1.62657846934916	0.01501	0.0679748	0.255720092227061	0.18732	0.615465	0.37627	0	0.610034	0.51514	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.47	-2.94	0.05245	-0.403000	0.07275	-0.996000	0.06663	-1.784000	0.00647	0.001000	0.13787	0.000000	0.08366	0.477000	0.28498	0.1178:0.4452:0.0:0.4369	6.326	0.20451	803	0.44167	.;.;.	.	.	.	.	.	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	923.98	36	chr12	27501927	.	C	T	923.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.169e+00;DP=740;ExcessHet=0.0000;FS=3.526;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=0.579;SOR=0.346	GT:AD:DP:GQ:PL	0/1:27,38:65:99:938,0,673	20	0	1	0
chr12	31980974	31980974	C	A	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.C19A:p.P7T,	.	.	432	1071	17	2	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.985	D	0.785	P	0.060	N	1.000	N	0.895	L	2.86	T	-1.089	T	0.067	T	0.261	3.005	16.02	4.3	1.172	1.686	11.982	0.078	.	0.0002	0.00259585	0.0026	0	0.0008	0.0001	0	0.0003	0.0012	0.0212	0.0021022	325	154602	rs150927474	0.0012	0.0012	0.0006	0.0017	0.0167	0.0011	0.0011	0.0160	0.0157	6.068e-05	0.0002	3.917e-05	0	3.764e-05	0.0065	0.0002	0.0013	0.0167	0.0007	0.0007	0.0004	0.0009	0.0139	0.0006	0.0005	0.0112	0.0103	0	0.0011	0.0003	0	0	0	0.0034	0.0004	0	0.0139	0.0	0.91255	D	0.0	0.92824	D	0.985	0.61118	D	0.785	0.57495	P	0.059557	0.22315	N	0.381540	1	0.08975	N	1.79	0.46772	L	2.86	0.22270	T	-8.0	0.96495	D	0.274	0.31027	-1.0895	0.05616	T	0.067	0.27572	T	10	0.0033395588	0.00058	T	.	.	.	0.078	0.22779	.	.	0.215109475489	0.21095	0.38457686279474934	0.38372	0.0490504788645	0.05365	0.345513343811	0.17260	T	0.08574	0.37569	T	-0.480207	0.00737	T	-0.449587	0.27742	T	0.153821343422295	0.17404	T	0.734027	0.37241	T	0.30231315	0.53112	0.22810557	0.47841	0.30231315	0.53112	0.22810557	0.47840	-3.89	0.22152	T	.	.	0.097	0.36811	B	.;.;.	.;.;.	3.370509	0.46573	22.3	0.99347992340563462	0.60452	0.85999	0.45201	D	AEFBI	0.063058	0.12162	N	-0.00214455778623099	0.41759	2.503551	-0.101655823674498	0.35323	2.042288	0.997642465401557	0.35855	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	4.3	0.50540	1.825000	0.38720	2.598000	0.33506	0.599000	0.40250	0.957000	0.33433	0.975000	0.29991	0.851000	0.40252	0.0:0.9179:0.0:0.0821	11.982	0.52413	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1857.98	33	chr12	31980974	.	C	A	1857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=845;ExcessHet=0.0000;FS=1.387;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=-1.125e+00;SOR=0.533	GT:AD:DP:GQ:PL	0/1:90,70:160:99:1872,0,2444	20	0	1	0
chr12	32796167	32796167	G	T	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon11:c.C2299A:p.R767S	Arrhythmogenic right ventricular dysplasia 9, Autosomal dominant	.	2	1503	15	2	0	19	0.00628099	.	.	54235	Familial_isolated_arrhythmogenic_right_ventricular_dysplasia|Arrhythmogenic_right_ventricular_dysplasia_9|not_specified|PKP2-related_disorder|not_provided|Long_QT_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy|Cardiomyopathy|Cardiovascular_phenotype	MONDO:MONDO:0016342,MedGen:C4274968,OMIM:PS107970,Orphanet:217656|MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.434	B	0.219	B	0.004	N	1.000	D	2.585	M	0.78	T	-0.636	T	0.201	T	0.85	3.477	17.80	5.06	2.508	3.303	17.583	0.257	0.0993497817025	0.0004	0.000599042	0.0009	9.61e-05	0.0010	0	0	0.0012	0.0066	0.0006	0.000815	126	154602	rs139734328	0.0009	0.0009	0.0008	0.0009	0.0073	0.0008	0.0008	0.0055	0.0049	0.0002	0.0008	0.0088	0	5.616e-05	0.0073	0.0007	0.0014	0.0006	0.0007	0.0007	0.0009	0.0006	0.0009	0.0006	0.0006	0.0007	0.0006	0.0001	0	0.0009	0.0081	0	0	0.0068	0.0008	0.0024	0.0008	0.008	0.63226	D	0.024	0.58089	D	0.267	0.35666	B	0.219	0.37734	B	0.003870	0.34390	N	0.241969	0.999853	0.49910	D	2.98	0.85499	M	0.78	0.49358	T	-3.22	0.64939	D	0.807	0.80278	-0.6358	0.63324	T	0.201	0.55794	T	10	0.020314664	0.00466	T	0.09935	0.77093	D	0.257	0.56827	.	.	0.727649319239	0.72523	0.5871319377748647	0.58643	0.537282136197	0.51035	0.515904903412	0.41050	T	0.573089	0.85897	D	-0.098817	0.36622	T	0.0232861	0.71843	D	0.0884483553174462	0.11032	T	0.786621	0.44603	T	0.34008333	0.56286	0.30969483	0.56983	0.39117417	0.60116	0.28971195	0.54991	-7.296	0.56167	T	0.4663457836462882	0.54761	0.482	0.67744	A	.;.	.;.	3.374374	0.46641	22.3	0.99531087898468584	0.69901	0.81649	0.41011	D	AEFGBI	0.714945	0.66726	D	0.238149991971774	0.53055	3.476272	0.304818569648226	0.55822	3.745053	0.99977898604337	0.42865	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.06	5.06	0.67838	3.692000	0.54460	6.332000	0.55462	0.671000	0.69459	0.919000	0.31930	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	17.583	0.87871	714	0.56256	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	3508.11	35	chr12	32796167	.	G	T	3508.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.47;DP=1068;ExcessHet=0.1072;FS=0.911;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=1.27;SOR=0.663	GT:AD:DP:GQ:PL	0/1:60,63:123:99:1541,0,1320	19	0	2	0
chr12	40479617	40479617	C	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	565	948	9	0	0	9	0.00472441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0638185984586	.	0.000798722	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs193276049	9.362e-05	6.156e-05	9.367e-05	9.357e-05	0.0018	7.619e-05	7.046e-05	0.0013	0.0011	0	0	0	0	0	0.0006	5.381e-05	0.0002	0.0018	0.0002	0.0002	0.0002	0.0002	0.0029	0.0001	0.0001	0.0018	0.0014	7.225e-05	0	0	0	0	0	0.0034	0.0001	0	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	13745.11	328	chr12	40479617	.	C	A	13745.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.49;DP=8363;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.11;ReadPosRankSum=-1.049e+00;SOR=0.638	GT:AD:DP:GQ:PL	0/1:262,261:523:99:7449,0,7377	19	0	2	0
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	1/1:0,926,0:926:99:30824,2779,0,30824,2779,30824	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	1/1:0,906,0:906:99:30736,2719,0,30971,2762,34348	4	9	7	0
chr12	40483220	40483220	T	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	543	941	36	2	0	40	0.0208117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0603377376754	.	0.00439297	.	.	.	.	.	.	.	.	0.0026894	70	26028	rs144440388	0.0013	0.0008	0.0013	0.0014	0.0111	0.0013	0.0013	0.0098	0.0093	0.0003	0.0020	0.0002	0.0066	0	0.0105	0.0011	0.0033	0.0111	0.0021	0.0021	0.0016	0.0025	0.0142	0.0019	0.0018	0.0115	0.0105	0.0003	0	0.0030	0	0.0097	0	0.0068	0.0018	0.0033	0.0142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	46855.92	623	chr12	40483220	.	T	A	46855.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=4.39;DP=15070;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=59.99;MQRankSum=0.991;QD=14.59;ReadPosRankSum=0.343;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:365,372:737:99:.:.:10341,0,10010	17	0	4	0
chr12	40486087	40486087	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	558	957	7	0	0	7	0.00364394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1438207721	1.205e-06	0.0002	0	2.609e-06	1.316e-06	0	0	.	.	0	0	0	0	0	0	1.316e-06	0	0	0.0067	0.0083	0.0057	0.0078	0.0528	0.0064	0.0062	0.0496	0.0483	0.0020	0	0.0528	0	0.0110	0.0066	0	0.0006	0.0065	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	23855.3	510	chr12	40486087	.	A	G	23855.3	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-1.404e+00;DP=16199;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1200;MLEAC=4;MLEAF=0.100;MQ=59.05;MQRankSum=-1.733e+01;QD=5.67;ReadPosRankSum=-4.207e+00;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:985,145:1130:99:1|0:40486052_G_T:3124,0,40918:40486052	16	0	4	1
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	22747.23	860	chr12	40486514	.	G	A,*	22747.23	.	AC=7,2;AF=0.350,0.100;AN=20;BaseQRankSum=1.88;DP=22874;ExcessHet=4.7172;FS=5.882;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.550,0.150;MQ=58.09;MQRankSum=0.489;QD=2.52;ReadPosRankSum=-6.295e+00;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1054,234,0:1288:99:.:.:3804,0,42941,6976,43643,50619	1	0	7	11
chr12	40487346	40487346	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	540	947	31	0	4	35	0.0161039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326292392	0	1.325e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0031	0.0003	0.0003	0.0007	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0004	0	0.0005	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	5047.17	783	chr12	40487346	.	A	T	5047.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.800e-01;DP=23076;ExcessHet=1.1607;FS=22.206;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=56.88;MQRankSum=-2.407e+01;QD=0.77;ReadPosRankSum=2.86;SOR=3.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1464,143:1607:99:0|1:40487346_A_T:1497,0,60695:40487346	15	0	5	1
chr12	40487354	40487354	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	544	938	36	0	4	40	0.0188285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265246174	0	6.857e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0041	0.0004	0.0004	0.0009	0.0003	0.0003	0.0002	0.0002	0.0003	0	0.0005	0.0005	0	0.0007	0	0.0004	0.0027	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	6434.31	783	chr12	40487354	.	G	A	6434.31	.	AC=6;AF=0.158;AN=38;BaseQRankSum=6.93;DP=23251;ExcessHet=1.7912;FS=22.206;InbreedingCoeff=-0.2000;MLEAC=6;MLEAF=0.158;MQ=56.97;MQRankSum=-2.438e+01;QD=0.84;ReadPosRankSum=5.99;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1441,143:1584:99:0|1:40487346_A_T:1573,0,59281:40487346	13	0	6	2
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	0/1:1398,0,0,0:1398:72:.:.:4943,0,58049,72,57936,57945,9154,58556,58600,67682	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	0/1:1398,0,0,0:1398:72:.:.:4943,0,58049,72,57936,57945,9154,58556,58600,67682	4	0	6	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	0/1:1370,0,0:1370:99:.:.:3760,0,55794,117,55850,55946	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|1:659,97,0:756:99:0|1:40488162_G_A:2089,0,27379,4073,27671,31744:40488162	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|1:453,242,0:695:99:0|1:40488222_A_G:8489,0,18087,9852,18815,28667:40488222	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	0/1:171,455,71,0:697:99:.:.:16784,0,5742,14673,4179,23588,17586,7156,22913,25596	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|2:459,0,197:656:99:0|1:40488222_A_G:6824,8206,27454,0,19247,18654:40488222	10	0	2	3
chr12	40488234	40488234	A	0	exonic	MUC19	.	.	.	.	.	655	769	59	13	26	111	0.0523722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	21813.94	821	chr12	40488234	.	A	T,*	21813.94	.	AC=5,2;AF=0.139,0.056;AN=36;BaseQRankSum=3.22;DP=13121;ExcessHet=2.7391;FS=7.380;InbreedingCoeff=-0.1784;MLEAC=6,2;MLEAF=0.167,0.056;MQ=58.57;MQRankSum=-1.943e+01;QD=3.85;ReadPosRankSum=-8.512e+00;SOR=1.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:453,173,0:626:99:0|1:40488222_A_G:5901,0,18501,7264,19021,26286:40488222	11	0	5	3
chr12	40488244	40488244	G	0	exonic	MUC19	.	.	.	.	.	0	221	4	0	1	5	0.00896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	13676.28	821	chr12	40488244	.	G	A,*	13676.28	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=9.41;DP=12099;ExcessHet=1.1607;FS=4.938;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=58.35;MQRankSum=-1.233e+01;QD=3.77;ReadPosRankSum=-8.872e+00;SOR=1.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:472,107,0:579:99:0|1:40488244_G_A:3072,0,19497,4493,19819,24312:40488244	16	0	4	0
chr12	40488250	40488250	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	590	918	12	0	2	14	0.00649351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1458586940	2.996e-05	0.0004	2.53e-05	3.537e-05	0.0125	1.96e-05	1.674e-05	0.0068	0.0052	0	0.0125	0	0.0009	0	0	5.951e-06	0.0001	0.0002	0.0039	0.0090	0.0031	0.0047	0.0330	0.0036	0.0035	0.0303	0.0292	0.0009	0	0.0330	0	0.0033	0.0043	0	0.0002	0.0051	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	9287.95	821	chr12	40488250	.	A	T,*	9287.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.25;DP=11746;ExcessHet=0.6776;FS=13.100;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=58.29;MQRankSum=-1.105e+01;QD=4.09;ReadPosRankSum=-8.702e+00;SOR=1.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:470,82,0:552:99:0|1:40488244_G_A:2028,0,19488,3443,19735,23178:40488244	17	0	3	0
chr12	40488250	40488250	A	0	exonic	MUC19	.	.	.	.	.	0	222	3	0	1	4	0.00671141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	9287.95	821	chr12	40488250	.	A	T,*	9287.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.25;DP=11746;ExcessHet=0.6776;FS=13.100;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=58.29;MQRankSum=-1.105e+01;QD=4.09;ReadPosRankSum=-8.702e+00;SOR=1.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:470,82,0:552:99:0|1:40488244_G_A:2028,0,19488,3443,19735,23178:40488244	17	0	3	0
chr12	40488252	40488252	A	0	exonic	MUC19	.	.	.	.	.	1	222	2	0	1	3	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	4982.98	821	chr12	40488252	.	A	G,*	4982.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=2.35;DP=11631;ExcessHet=0.7148;FS=49.965;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.48;MQRankSum=-8.793e+00;QD=2.32;ReadPosRankSum=-8.295e+00;SOR=4.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:462,60,0:533:99:.:.:1129,0,19219,2519,19399,21919	16	0	3	1
chr12	40488255	40488255	G	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	602	913	7	0	0	7	0.00381888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1488209478	9.531e-06	0.0003	7.591e-06	1.179e-05	0.0063	3.96e-06	2.55e-06	0.0025	0.0016	0	0.0063	0	0.0003	0	0	1.488e-06	0	0	0.0031	0.0084	0.0026	0.0037	0.0275	0.0029	0.0028	0.0248	0.0238	0.0007	0	0.0275	0	0.0031	0.0031	0	0.0002	0.0034	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	3447.98	821	chr12	40488255	.	G	T,*	3447.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=1.94;DP=11556;ExcessHet=0.6776;FS=44.354;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.40;MQRankSum=-8.042e+00;QD=1.64;ReadPosRankSum=-7.804e+00;SOR=5.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:461,50,0:511:99:0|1:40488244_G_A:712,0,19207,2099,19357,21457:40488244	16	0	3	1
chr12	40488255	40488255	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3447.98	821	chr12	40488255	.	G	T,*	3447.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=1.94;DP=11556;ExcessHet=0.6776;FS=44.354;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.40;MQRankSum=-8.042e+00;QD=1.64;ReadPosRankSum=-7.804e+00;SOR=5.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:461,50,0:511:99:0|1:40488244_G_A:712,0,19207,2099,19357,21457:40488244	16	0	3	1
chr12	40488256	40488256	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3060.98	821	chr12	40488256	.	T	A,*	3060.98	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=10.51;DP=11535;ExcessHet=0.6776;FS=41.825;InbreedingCoeff=-0.1200;MLEAC=3,1;MLEAF=0.075,0.025;MQ=58.40;MQRankSum=-8.249e+00;QD=1.47;ReadPosRankSum=-7.647e+00;SOR=5.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:455,46,0:501:99:0|1:40488244_G_A:562,0,18967,1932,19105,21037:40488244	16	0	3	1
chr12	40488262	40488262	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	600	919	3	0	0	3	0.00162955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1243397229	0	7.332e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0010	0.0054	0.0009	0.0012	0.0092	0.0009	0.0008	0.0078	0.0073	0.0002	0	0.0092	0	0.0009	0.0010	0	6.866e-05	0.0011	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	1682.68	821	chr12	40488262	.	A	G	1682.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=5.90;DP=11357;ExcessHet=0.3300;FS=47.936;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=57.93;MQRankSum=-8.349e+00;QD=1.14;ReadPosRankSum=-7.960e+00;SOR=8.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:450,38:488:99:0|1:40488244_G_A:241,0,18781:40488244	18	0	3	0
chr12	40490978	40490978	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	551	935	33	1	2	37	0.0183727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.0025742	67	26028	rs144654701	0.0014	0.0008	0.0014	0.0014	0.0116	0.0013	0.0013	0.0103	0.0097	0.0003	0.0021	0.0002	0.0067	0	0.0107	0.0011	0.0034	0.0116	0.0020	0.0020	0.0016	0.0025	0.0139	0.0018	0.0018	0.0112	0.0102	0.0003	0	0.0030	0	0.0094	0	0.0068	0.0018	0.0033	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	33680.3	582	chr12	40490978	.	G	A	33680.3	.	AC=4;AF=0.100;AN=40;BaseQRankSum=2.26;DP=13328;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1200;MLEAC=4;MLEAF=0.100;MQ=59.56;MQRankSum=-3.345e+00;QD=12.86;ReadPosRankSum=0.453;SOR=0.714	GT:AD:DP:GQ:PL	0/1:293,295:588:99:8111,0,8215	16	0	4	1
chr12	45050648	45050648	G	C	exonic	DBX2	.	nonsynonymous SNV	DBX2:NM_001004329:exon1:c.C280G:p.P94A,	.	.	408	1110	3	1	0	5	0.00224719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.98	D	0.956	D	0.962	N	0.995	N	0.805	L	-2.92	D	-0.114	T	0.713	D	0.245	1.710	11.68	0.914	0.345	1.591	6.253	0.247	0.633536488703	0.0015	0.000998403	0.0017	0	0	0	0	0.0048	0	0.0003	0.0012096	187	154602	rs200382293	0.0038	0.0037	0.0038	0.0037	0.0045	0.0037	0.0036	0.0044	0.0044	0.0005	0.0008	0.0009	0	0.0024	0.0006	0.0045	0.0029	0.0004	0.0022	0.0022	0.0024	0.0021	0.0040	0.0020	0.0020	0.0037	0.0035	0.0007	0	0.0008	0	0	0.0018	0	0.0040	0.0009	0.0002	0.103	0.30097	T	0.298	0.20486	T	0.98	0.59353	D	0.956	0.69739	D	0.962169	0.08216	N	0.972993	0.995022	0.23389	N	1.795	0.47270	L	-2.92	0.91748	D	-1.57	0.37955	N	0.279	0.31590	-0.1144	0.79765	T	0.713	0.90144	D	10	0.008105904	0.00184	T	0.633536	0.96859	D	0.247	0.55478	.	.	0.476522311808	0.47281	0.3101731616694934	0.30930	0.143745575346	0.16234	0.842742264271	0.88512	D	0.02214	0.17120	T	-0.320819	0.06830	T	-0.231691	0.51608	T	0.0153506032003332	0.00342	T	0.471053	0.13966	T	0.04925329	0.08717	0.06837056	0.14270	0.04925329	0.08716	0.06837056	0.14270	-3.352	0.14417	T	.	.	0.056	0.00487	B	.	.	2.462021	0.31716	18.83	0.96864967033579741	0.31396	0.55767	0.29947	D	AEFDBHIJ	0.101091	0.20312	N	-0.30869052743431	0.28818	1.592677	-0.441116780563014	0.23802	1.299927	0.950728442060351	0.27913	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	1.82	0.914	0.18488	1.831000	0.38781	0.598000	0.19894	-0.143000	0.12349	0.977000	0.34929	0.645000	0.25934	0.116000	0.19000	0.1567:0.0:0.8433:0.0	6.253	0.20064	757	0.50970	.	.	.	.	.	.	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	740.98	46	chr12	45050648	.	G	C	740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.800e-02;DP=856;ExcessHet=0.0000;FS=0.861;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.26;ReadPosRankSum=0.347;SOR=0.872	GT:AD:DP:GQ:PL	0/1:47,33:80:99:755,0,1248	20	0	1	0
chr12	45927949	45927949	T	C	exonic	SCAF11	.	nonsynonymous SNV	SCAF11:NM_004719:exon11:c.A1752G:p.I584M,	.	.	427	1084	11	0	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.0	B	0.003	B	0.059	N	1.000	N	-1.1	N	2.18	T	-1.073	T	0.016	T	0.021	-1.628	0.013	0.443	-0.104	-1.465	0.793	0.026	.	0.0088	0.0217652	0.0122	0.0280	0.0017	0.0002	0	0.0001	0.0078	0.0702	0.0107631	1664	154602	rs115819509	0.0049	0.0049	0.0032	0.0067	0.0673	0.0048	0.0048	0.0658	0.0653	0.0250	0.0015	0	0.0002	0	0.0033	0.0001	0.0060	0.0673	0.0095	0.0095	0.0089	0.0100	0.0671	0.0091	0.0089	0.0611	0.0588	0.0251	0	0.0031	0	0.0004	0	0	0.0001	0.0085	0.0671	0.442	0.09209	T	0.208	0.26883	T	0.0	0.02946	B	0.0	0.08700	B	0.058550	0.02111	N	1.937410	1	0.08975	N	-0.405	0.02972	N	2.18	0.32482	T	0.13	0.05503	N	0.017	0.00226	-1.0732	0.08724	T	0.016	0.06521	T	10	0.0017840862	0.00023	T	.	.	.	0.026	0.05648	.	.	.	.	0.02304690031503445	0.02256	0.0387951833465	0.04126	0.288950115442	0.08769	T	0.013726	0.11817	T	-0.766228	0.00014	T	-0.822359	0.01405	T	0.000125627605866576	0.00001	T	0.120988	0.00936	T	0.019684823	0.00504	0.02960226	0.01317	0.019684823	0.00503	0.02960226	0.01317	-4.918	0.37228	T	.	.	0.064	0.02894	B	.;.;.	.;.;.	0.163401	0.05536	1.996	0.11982965123866747	0.00195	0.06019	0.11985	N	AEBI	0.036182	0.04780	N	-1.34877688052254	0.03138	0.1396774	-1.28459916255479	0.04638	0.2192344	0.0764610000498978	0.15728	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.45	0.443	0.15798	-1.587000	0.02211	2.144000	0.30864	-0.171000	0.11205	0.000000	0.06391	0.003000	0.18671	0.434000	0.27538	0.219:0.2968:0.1213:0.3628	0.793	0.00992	821	0.40814	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1601.98	114	chr12	45927949	.	T	C	1601.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=1610;ExcessHet=0.0000;FS=5.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=1.45;SOR=1.123	GT:AD:DP:GQ:PL	0/1:76,59:135:99:1616,0,2127	20	0	1	0
chr12	50134634	50134634	T	C	exonic	CERS5	.	nonsynonymous SNV	CERS5:NM_001331070:exon9:c.A941G:p.N314S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	1.0	D	0.99	D	0.000	D	1.000	D	3.305	M	-2.03	D	0.542	D	0.770	D	0.257	2.917	15.72	3.87	1.054	7.705	10.966	0.302	0.157198592843	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs773386865	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.996	0.68779	D	0.955	0.69585	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.145	0.88303	M	-2.03	0.85613	D	-4.7	0.79829	D	0.761	0.75927	0.542	0.91131	D	0.770	0.92189	D	10	0.87000215	0.86261	D	0.157199	0.83783	D	0.621	0.85301	0.641	0.77795	0.826449375784	0.82480	0.8624126307046751	0.86205	0.701290839749	0.61136	0.487399369478	0.37078	T	0.750869	0.93172	D	0.0246753	0.55010	T	-0.105478	0.62970	T	0.944369673728943	0.62046	D	0.981802	0.93846	D	0.5295632	0.68805	0.364143	0.61788	0.5295632	0.68806	0.364143	0.61788	-10.546	0.77602	D	.	.	0.204	0.42891	B	.;.	.;.	4.549695	0.71588	25.7	0.99730920623919439	0.82761	0.94953	0.62907	D	AEFDBCI	0.915405	0.88016	D	0.432806239722745	0.63234	4.553395	0.309457808638483	0.56094	3.77243	0.999999887415719	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.01	3.87	0.43823	7.856000	0.85294	7.826000	0.69930	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.433000	0.27516	0.0:0.0734:0.0:0.9266	10.966	0.46623	229	0.91079	.;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1857.98	33	chr12	50134634	.	T	C	1857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.935e+00;DP=832;ExcessHet=0.0000;FS=2.169;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=-3.740e-01;SOR=0.516	GT:AD:DP:GQ:PL	0/1:64,75:139:99:1872,0,1652	20	0	1	0
chr12	50351611	50351611	C	T	exonic	FAM186A	.	nonsynonymous SNV	FAM186A:NM_001145475:exon4:c.G5221A:p.A1741T,	.	.	431	1090	1	0	0	1	0.000458505	.	.	2198564	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.78	T	0.1	B	0.076	B	.	.	1.000	N	0	N	2.88	T	-0.938	T	0.013	T	0.018	0.908	8.693	2.89	1.178	-0.457	7.226	0.053	0.0163832103118	0.0002	.	5.117e-05	0	0	0	0	0.0001	0	0	2.59e-05	4	154602	rs201614087	0.0001	0.0001	9.872e-05	0.0001	0.0014	9.384e-05	8.844e-05	0.0007	0.0005	3.165e-05	0.0001	0	0	2.029e-05	0.0014	0.0001	0.0002	0	0.0001	0.0001	0.0001	0.0001	0.0001	6.514e-05	5.325e-05	7.911e-05	5.996e-05	7.243e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0	0.489	0.08018	T	0.963	0.02542	T	0.1	0.25713	B	0.076	0.28435	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.88	0.10291	T	-1.05	0.27463	N	0.01	0.00095	-0.9375	0.43010	T	0.013	0.05177	T	9	0.038436353	0.02262	T	0.016383	0.37609	T	0.053	0.14996	.	.	0.0297737177859	0.01360	0.12160316434134946	0.12087	.	.	0.212062448263	0.00902	T	0.002104	0.01509	T	-0.622249	0.00107	T	-0.846881	0.01000	T	0.0417360227937202	0.04006	T	0.339066	0.07293	T	0.0594756	0.12091	0.0765381	0.16960	0.0594756	0.12091	0.0765381	0.16960	-3.062	0.10865	T	.	.	0.099	0.22680	B	.;.	.;.	0.176996	0.05651	2.101	0.54404306429006866	0.05131	0.01473	0.04910	N	AEFDBI	.	.	.	-1.01741721352508	0.08242	0.3857647	-0.981055483417262	0.10211	0.512836	0.999434346420199	0.39683	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.87	2.89	0.32713	0.063000	0.14285	-0.841000	0.07217	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.169:0.7376:0.0:0.0934	7.226	0.25193	584	0.69381	.;.	.	.	.	.	.	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	1589.98	76	chr12	50351611	.	C	T	1589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.550e-01;DP=1421;ExcessHet=0.0000;FS=7.948;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-1.800e-02;SOR=0.832	GT:AD:DP:GQ:PL	0/1:74,58:132:99:1604,0,2142	20	0	1	0
chr12	52319162	52319162	T	C	exonic	KRT83	.	nonsynonymous SNV	KRT83:NM_002282:exon2:c.A587G:p.K196R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.529	P	0.521	P	0.000	U	0.750	D	1.195	L	-2.33	D	0.206	D	0.564	D	0.218	3.794	19.26	3.5	0.744	4.164	8.612	0.425	0.0174844414064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	1.362e-06	2.752e-06	0.0004	5.5e-07	1.5e-07	6.855e-05	2.867e-05	0	0	0	0	0	0.0004	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.075	0.42794	T	0.529	0.37682	P	0.521	0.48239	P	0.000419	0.44736	U	0.000000	0.750071	0.33919	D	.	.	.	-2.33	0.87910	D	-2.56	0.55339	D	0.225	0.25253	0.206	0.86003	D	0.564	0.84166	D	10	0.31852698	0.49250	T	0.017484	0.39195	T	0.425	0.73299	0.643	0.78010	0.723554537112	0.72111	0.063732512748604	0.06312	0.104607782887	0.11836	0.705341339111	0.67917	T	0.447979	0.79003	T	0.000149996	0.51675	T	-0.237561	0.51036	T	0.922747015953064	0.58304	D	0.833117	0.50161	T	0.2755499	0.50619	0.31527078	0.57514	0.2755499	0.50618	0.31527078	0.57513	-6.428	0.49728	T	0.25223272278881936	0.34127	0.070	0.03661	B	.	.	3.345971	0.46131	22.2	0.998556691654918	0.93458	0.88650	0.48678	D	AEFDGBCI	0.639460	0.61750	D	0.109189408415472	0.46892	2.922636	0.156431556480403	0.47483	2.977898	0.999925732862834	0.46280	0.59774	0.34471	0	0.563428	0.19063	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	4.66	3.5	0.39181	3.454000	0.52750	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.159:0.0:0.841	8.612	0.32968	724	0.55085	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	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	1048.98	35	chr12	52319162	.	T	C	1048.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.668;DP=1190;ExcessHet=0.0000;FS=3.158;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-6.920e-01;SOR=0.399	GT:AD:DP:GQ:PL	0/1:44,37:81:99:1063,0,1133	20	0	1	0
chr12	52645354	52645354	C	T	exonic	KRT2	.	nonsynonymous SNV	KRT2:NM_000423:exon9:c.G1585A:p.G529R,	Ichthyosis bullosa of Siemens, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.78	P	0.106	B	.	.	0.721	N	0	N	-2.72	D	-0.364	T	0.403	T	0.445	2.804	15.34	3.55	1.001	0.858	11.567	0.312	0.0264833203081	.	0.000199681	5.766e-05	0	8.637e-05	0	0	5.994e-05	0	0.0001	5.82e-05	9	154602	rs530945813	4.31e-05	4.309e-05	3.811e-05	4.813e-05	0.0002	3.442e-05	3.129e-05	7.281e-05	5.16e-05	0	0.0002	0.0001	2.519e-05	0	0	3.687e-05	1.656e-05	0.0001	6.565e-05	6.562e-05	8.995e-05	4.027e-05	0.0004	3.514e-05	2.614e-05	7.296e-05	3.031e-05	7.219e-05	0	0.0002	0	0	0	0	2.94e-05	0	0.0004	0.09	0.31987	T	0.003	0.76473	D	0.78	0.44271	P	0.106	0.31143	B	.	.	.	.	0.720508	0.29927	N	2.08	0.57402	M	-2.72	0.90622	D	-2.45	0.53577	N	0.342	0.38335	-0.3637	0.73153	T	0.403	0.75338	T	9	0.18229482	0.33503	T	0.026483	0.49383	D	0.312	0.63375	0.352	0.35084	0.85537823315	0.85398	0.5089015278219101	0.50812	0.102195823215	0.11571	0.512008190155	0.40503	T	0.317727	0.68916	T	-0.131136	0.31314	T	-0.156844	0.58634	T	0.150815546512604	0.17168	T	0.358264	0.08182	T	0.09278258	0.21774	0.19647528	0.43379	0.09278258	0.21774	0.19647528	0.43378	-6.083	0.46969	T	0.2555017147872655	0.34546	0.347	0.56370	A	.	.	2.714010	0.35483	19.91	0.99516274280719441	0.68979	0.69808	0.34335	D	AEFBI	0.185647	0.31297	N	-0.247627119968168	0.31199	1.746979	-0.164592047064865	0.32850	1.873098	0.999995528827827	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.44	3.55	0.39770	1.284000	0.32855	.	.	0.519000	0.23678	0.930000	0.32276	0.489000	0.25143	0.584000	0.30992	0.0:0.9102:0.0:0.0898	11.567	0.50065	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	4311.98	42	chr12	52645354	.	C	T	4311.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.31;DP=1279;ExcessHet=0.0000;FS=6.341;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=0.840;SOR=0.463	GT:AD:DP:GQ:PL	0/1:182,161:343:99:4326,0,4485	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|1:54,18,0:72:99:0|1:52949249_G_A:593,0,2213,756,2267,3023:52949249	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	0/1:70,46:116:99:284,0,1276	6	0	10	5
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	0/1:50,13:70:99:.:.:158,0,1293	11	0	10	0
chr12	56716774	56716774	T	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.A4756G:p.T1586A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	B	0.006	B	.	.	1.000	N	.	.	0.87	T	-1.019	T	0.052	T	0.058	0.464	6.518	-1.65	0.024	-0.395	4.844	0.003	0.00228384647801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.672e-06	0.0001	1.634e-06	1.712e-06	2.097e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.097e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.719	0.05363	T	0.01	0.15535	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	0.47	0.03090	N	0.057	0.02861	-1.0187	0.24139	T	0.052	0.22269	T	7	0.052386343	0.05265	T	0.002284	0.04369	T	0.003	0.00094	0.231	0.15855	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.05443	0.29723	T	-0.317768	0.07082	T	-0.694228	0.06147	T	0.0645078461183593	0.07859	T	0.325967	0.06723	T	0.04106803	0.05981	0.041717745	0.04806	0.04106803	0.05980	0.041717745	0.04805	-6.846	0.52900	T	.	.	0.134	0.29032	B	.	.	-0.114785	0.03555	0.684	0.19066523652983547	0.00627	0.13174	0.17706	N	AEFDBHCI	0.058886	0.11081	N	-1.18737061141861	0.05191	0.2360293	-1.27587405181014	0.04759	0.2252294	0.999971354431567	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	-1.65	0.07849	-3.807000	0.00406	-0.245000	0.10556	0.514000	0.23422	0.000000	0.06391	0.019000	0.20708	0.178000	0.21234	0.1834:0.5085:0.0:0.3081	4.844	0.12867	45	0.97767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	83.5	65	chr12	56716774	.	T	C	83.5	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-9.180e-01;DP=1431;ExcessHet=0.6776;FS=89.750;InbreedingCoeff=-0.0938;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.28;ReadPosRankSum=0.466;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,10:70:5:.:.:5,0,2055	17	0	4	0
chr12	57029472	57029472	C	G	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon26:c.G2840C:p.S947T	.	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.088	B	0.141	B	0.001	N	0.824	N	0.725	N	1.27	T	-1.039	T	0.067	T	0.086	1.456	10.81	4.48	2.332	3.116	12.549	0.054	0.0101146993171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	0.08408	T	0.477	0.12002	T	0.088	0.25022	B	0.141	0.33616	B	0.001232	0.39743	N	0.268590	0.823901	0.28847	N	1.895	0.50365	L	1.27	0.36146	T	-0.57	0.17210	N	0.08	0.08786	-1.0388	0.17678	T	0.067	0.27606	T	10	0.18453875	0.33833	T	0.010115	0.26258	T	0.054	0.15330	0.52	0.62217	0.600640161457	0.59745	0.19503560817694282	0.19421	0.0875885386297	0.09886	0.429520696402	0.29143	T	0.043715	0.26588	T	-0.249365	0.14177	T	-0.595972	0.13152	T	0.456558078527451	0.31039	T	0.589941	0.21689	T	0.09005541	0.21061	0.09231017	0.21749	0.09005541	0.21061	0.09231017	0.21748	-6.043	0.46637	T	.	.	0.096	0.15966	B	.;.	.;.	2.452891	0.31584	18.79	0.9405711852819707	0.24189	0.74699	0.36548	D	AEFBI	0.240884	0.36259	N	-0.197272391548338	0.33247	1.884093	-0.0558277484201355	0.37240	2.177707	0.913341782270078	0.26420	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.48	4.48	0.53973	3.162000	0.50454	6.200000	0.54880	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.361000	0.25909	0.0:1.0:0.0:0.0	12.549	0.55567	174	0.93268	Class I myosin tail homology domain|Class I myosin tail homology domain;Class I myosin tail homology domain|Class I myosin tail homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1303.98	35	chr12	57029472	.	C	G	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.997e+00;DP=826;ExcessHet=0.0000;FS=0.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.633;SOR=0.776	GT:AD:DP:GQ:PL	0/1:56,52:108:99:1318,0,1489	20	0	1	0
chr12	57758568	57758568	A	C	exonic	MARCHF9	.	nonsynonymous SNV	MARCHF9:NM_138396:exon4:c.A712C:p.I238L,	.	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.991	D	0.992	D	0.000	D	1.000	D	2.155	M	0.37	T	-0.512	T	0.257	T	0.747	3.583	18.25	5.56	2.330	7.116	14.814	0.210	.	0.0037	0.00179712	0.0036	0.0010	0.0047	0	0.0003	0.0051	0.0086	0.0006	0.0035899	555	154602	rs138740542	0.0047	0.0047	0.0049	0.0046	0.0055	0.0046	0.0046	0.0054	0.0053	0.0008	0.0048	0.0072	0	0.0003	0.0054	0.0055	0.0049	0.0007	0.0039	0.0039	0.0038	0.0041	0.0094	0.0037	0.0036	0.0082	0.0077	0.0012	0	0.0094	0.0107	0	0.0004	0.0170	0.0051	0.0057	0.0010	0.062	0.36912	T	0.0	0.92824	D	0.991	0.64070	D	0.977	0.80445	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	1.61	0.41143	L	0.37	0.57729	T	-1.76	0.42957	N	0.647	0.69213	-0.5122	0.68206	T	0.257	0.62721	T	10	0.011718929	0.00255	T	.	.	.	0.210	0.50028	.	.	0.648523674005	0.64560	0.8906295767172349	0.89032	0.250531978544	0.27623	0.761087656021	0.76090	T	0.048827	0.28131	T	-0.201706	0.20559	T	-0.0605947	0.66291	T	0.0234863049732283	0.01081	T	0.89931	0.65873	D	0.37052107	0.58624	0.26393268	0.52205	0.37052107	0.58624	0.26393268	0.52204	-12.711	0.88137	D	.	.	0.368	0.65096	A	.;.	.;.	4.674648	0.74743	26.2	0.99129919949473833	0.53222	0.92141	0.55036	D	AEFDBCI	0.795141	0.72265	D	0.766135716753188	0.83952	8.153963	0.751783356581408	0.86287	8.842105	0.999999640138814	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.693144	0.63139	0	0.59522	0.37078	0	.	.	5.56	5.56	0.83678	7.295000	0.78117	11.282000	0.91772	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	14.814	0.69645	181	0.92953	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	888.98	34	chr12	57758568	.	A	C	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.260e-01;DP=778;ExcessHet=0.0000;FS=0.894;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-6.500e-02;SOR=0.906	GT:AD:DP:GQ:PL	0/1:36,38:74:99:903,0,886	20	0	1	0
chr12	64691559	64691559	C	T	exonic	RASSF3	.	nonsynonymous SNV	RASSF3:NM_178169:exon4:c.C547T:p.R183C,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	B	0.077	B	0.000	D	1.000	D	1.445	L	1.0	T	-1.039	T	0.102	T	0.699	3.196	16.70	4.85	2.415	4.221	18.384	0.185	0.0235204509456	.	.	0.0003	0	0.0016	0.0003	0.0005	7.612e-05	0.0011	0	0.0002005	31	154602	rs760202939	7.075e-05	7.047e-05	8.341e-05	5.797e-05	0.0006	5.938e-05	5.545e-05	0.0005	0.0004	3.001e-05	0.0006	0	0.0003	0.0004	0	3.072e-05	8.315e-05	0	0.0001	0.0001	6.648e-05	0.0002	0.0004	7.347e-05	6.057e-05	7.082e-05	2.952e-05	4.948e-05	0	0.0001	0	0.0004	0.0006	0	4.554e-05	0.0010	0	0.028	0.46129	D	0.0	0.92824	D	0.309	0.32767	B	0.077	0.28532	B	0.000001	0.62929	D	0.054582	1	0.81001	D	2.245	0.63543	M	1.0	0.41392	T	-5.72	0.87531	D	0.762	0.76019	-1.0393	0.17526	T	0.102	0.37669	T	9	0.13076803	0.24886	T	0.02352	0.46484	T	0.185	0.45933	.	.	0.640728931914	0.63776	0.6621055531613848	0.66147	0.195997747889	0.21957	0.744822263718	0.73682	T	0.120014	0.44196	T	-0.203046	0.20365	T	-0.170857	0.57364	T	0.157147936059469	0.17658	T	0.915608	0.71908	D	0.53718185	0.69238	0.45815474	0.68516	0.53718185	0.69240	0.45815474	0.68516	-10.365	0.76068	D	.	.	0.373	0.58416	A	.;.;.	.;.;.	5.113137	0.85491	28.6	0.99740375844663753	0.83482	0.82781	0.41963	D	AEFGBHCI	0.767668	0.70346	D	0.0898173723096233	0.45989	2.846341	0.223577070880801	0.51157	3.30085	0.999999999976442	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.52208	0.10781	0	0.735409	0.98432	0	.	.	4.85	4.85	0.62375	4.164000	0.57977	7.582000	0.60992	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:1.0:0.0:0.0	18.384	0.90405	657	0.62240	Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) domain;Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) domain;Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) 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	1586.98	34	chr12	64691559	.	C	T	1586.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.373;DP=825;ExcessHet=0.0000;FS=2.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=0.989;SOR=0.504	GT:AD:DP:GQ:PL	0/1:65,64:129:99:1601,0,1559	20	0	1	0
chr12	68689014	68689014	C	T	exonic	NUP107	.	nonsynonymous SNV	NUP107:NM_020401:exon2:c.C61T:p.R21W,	Nephrotic syndrome, type 11, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	610462	Inborn_genetic_diseases|Premature_ovarian_insufficiency	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.998	D	0.65	P	0.003	N	1.000	D	1.7	L	.	.	-0.769	T	0.212	T	0.73	4.097	21.1	2.27	0.694	0.030	12.000	0.465	0.0153053235724	7.7e-05	.	4.12e-05	0	8.645e-05	0	0	5.996e-05	0	0	4.53e-05	7	154602	rs139309724	3.969e-05	4.104e-05	3.677e-05	4.264e-05	0.0003	3.114e-05	2.848e-05	0.0001	7.821e-05	2.988e-05	0.0002	0	0	0	0.0003	3.148e-05	8.283e-05	6.961e-05	9.196e-05	9.187e-05	5.14e-05	0.0001	0.0002	5.526e-05	4.363e-05	5.285e-05	2.835e-05	2.407e-05	0	0.0002	0	0	0	0	5.881e-05	0.0024	0.0002	0.002	0.72154	D	0.006	0.70582	D	0.998	0.73220	D	0.65	0.52463	P	0.002839	0.35868	N	0.254805	0.992658	0.81001	D	1.995	0.54099	M	.	.	.	-2.16	0.48850	N	0.232	0.26111	-0.7695	0.56885	T	0.212	0.57227	T	8	0.21016037	0.37401	T	0.015305	0.35967	T	0.465	0.76089	.	.	0.660518371735	0.65767	0.4101210851255669	0.40928	0.262777357294	0.28839	0.613216757774	0.54771	T	0.114287	0.43199	T	-0.0404425	0.45883	T	-0.0408235	0.67645	D	0.794149219989777	0.45961	D	0.934707	0.75503	D	0.11315154	0.26725	0.13431321	0.32187	0.11315154	0.26725	0.13431321	0.32186	-6.581	0.50907	T	.	.	0.18	0.39185	B	.	.	3.600370	0.50854	23.0	0.99909325615092537	0.97949	0.14177	0.18264	N	AEFBI	0.266659	0.38353	N	-0.00956716099439469	0.41421	2.477291	-0.0744395733602191	0.36450	2.121454	0.999692757282856	0.41870	0.660085	0.49399	0	0.662677	0.63036	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	5.45	2.27	0.27501	0.147000	0.16021	0.797000	0.21623	0.549000	0.26987	0.041000	0.21027	0.350000	0.24467	0.988000	0.63387	0.6002:0.3998:0.0:0.0	12.000	0.52518	689	0.59000	.	.	.	.	.	.	Uncertain significance	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	1001.98	33	chr12	68689014	.	C	T	1001.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=0.376;SOR=0.791	GT:AD:DP:GQ:PL	0/1:42,42:84:99:1016,0,895	20	0	1	0
chr12	70353915	70353915	A	-	exonic	CNOT2	.	nonframeshift deletion	CNOT2:NM_001199303:exon16:c.1623delA:p.X541X	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	2/3:0,0,2,2:4:28:62,73,102,46,61,65,28,43,0,35	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	2/3:0,0,2,2:4:28:62,73,102,46,61,65,28,43,0,35	3	0	8	0
chr12	71699085	71699085	T	G	exonic	TMEM19	.	nonsynonymous SNV	TMEM19:NM_018279:exon5:c.T823G:p.L275V,	.	.	429	1072	21	0	0	21	0.00969977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	D	0.818	P	0.000	D	1.000	D	2.16	M	.	.	-0.645	T	0.217	T	0.8	2.680	14.92	3.69	1.112	2.220	9.465	0.145	0.0351813460054	0.0056	0.00159744	0.0052	0.0007	0.0029	0	0.0015	0.0070	0.0066	0.0065	0.0051358	794	154602	rs145012054	0.0059	0.0059	0.0059	0.0060	0.0120	0.0058	0.0058	0.0097	0.0089	0.0006	0.0030	0.0165	0	0.0020	0.0120	0.0062	0.0066	0.0076	0.0043	0.0043	0.0041	0.0044	0.0062	0.0040	0.0039	0.0057	0.0055	0.0014	0	0.0035	0.0173	0	0.0016	0.0068	0.0062	0.0061	0.0048	0.003	0.68238	D	0.046	0.49120	D	0.568	0.70673	P	0.166	0.58969	B	0.000080	0.52346	D	0.073167	0.999982	0.54805	D	2.475	0.71894	M	.	.	.	-2.77	0.58733	D	0.807	0.80278	-0.6447	0.62944	T	0.217	0.57902	T	8	0.014507443	0.00305	T	0.035181	0.56172	D	0.250	0.55888	.	.	0.107399877778	0.10242	0.9057006794600863	0.90543	0.317847215541	0.34018	0.5352191329	0.43770	T	0.270176	0.64242	T	-0.103541	0.35838	T	0.0836211	0.75820	D	0.0206278004675064	0.00762	T	0.945605	0.85339	D	0.33984637	0.56267	0.3509122	0.60694	0.33984637	0.56267	0.3509122	0.60693	-7.335	0.69883	T	.	.	0.226	0.52671	B	.;.;.	.;.;.	2.978086	0.39716	21.0	0.99333427364098725	0.59856	0.94587	0.61652	D	AEFDBHI	0.433414	0.49488	N	0.267850151330828	0.54528	3.618044	0.295395940576656	0.55271	3.690213	0.994122170462301	0.33498	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.06	3.69	0.41483	2.230000	0.42644	1.540000	0.27221	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.1402:0.0:0.8598	9.465	0.37971	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1213.98	33	chr12	71699085	.	T	G	1213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.229e+00;DP=794;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=0.829;SOR=0.592	GT:AD:DP:GQ:PL	0/1:60,51:111:99:1228,0,1567	20	0	1	0
chr12	71923175	71923175	T	A	exonic	TBC1D15	.	nonsynonymous SNV	TBC1D15:NM_001146213:exon17:c.T1996A:p.S666T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.011	B	0.014	B	0.656	N	1.000	N	0	N	3.42	T	-0.913	T	0.011	T	0.094	0.894	8.630	4.04	0.770	1.235	1.938	0.059	0.00715669205627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.38407	T	0.359	0.17425	T	0.011	0.15914	B	0.014	0.16862	B	0.655712	0.10472	N	0.850231	0.999922	0.19486	N	1.1	0.28011	L	3.42	0.05642	T	-0.2	0.10308	N	0.049	0.19593	-0.9135	0.46415	T	0.011	0.03903	T	10	0.060584843	0.07465	T	0.007157	0.18979	T	0.059	0.16972	0.33	0.31519	0.383760037723	0.37989	0.262734963799944	0.26186	0.158246879957	0.17873	0.284471303225	0.08124	T	0.017575	0.14314	T	-0.311293	0.07634	T	-0.684927	0.06687	T	0.0354230283886382	0.02880	T	0.721228	0.33447	T	0.049351126	0.08750	0.048093356	0.07070	0.049351126	0.08749	0.048093356	0.07069	-4.112	0.25540	T	.	.	0.064	0.02118	B	.;.;.	.;.;.	1.580882	0.20228	14.65	0.84418340552977655	0.15280	0.31184	0.24273	N	AEFGBI	0.163435	0.28971	N	-0.634620249376785	0.17910	0.9257203	-0.461240084984138	0.23231	1.265797	0.00274426865584768	0.09676	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.91	4.04	0.46262	1.275000	0.32748	2.651000	0.33816	0.665000	0.62972	0.376000	0.25973	1.000000	0.68203	0.853000	0.40368	0.1603:0.4996:0.1564:0.1837	1.938	0.03138	837	0.37933	.;.;.	.	.	.	.	.	Uncertain significance	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	2211.98	37	chr12	71923175	.	T	A	2211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.400e-01;DP=852;ExcessHet=0.0000;FS=2.923;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=-5.500e-02;SOR=0.963	GT:AD:DP:GQ:PL	0/1:70,87:157:99:2226,0,1664	20	0	1	0
chr12	79808529	79808529	G	A	exonic	PPP1R12A	.	nonsynonymous SNV	PPP1R12A:NM_001143886:exon11:c.C1243T:p.P415S	.	.	440	1081	1	0	0	1	0.000462321	.	.	3052548	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	1.0	D	0.998	D	0.000	D	1.000	D	1.675	L	1.27	T	-0.727	T	0.265	T	0.86	4.747	26.5	5.26	2.450	9.199	18.876	0.362	0.0153141992635	.	.	1.658e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs746022915	1.304e-05	1.437e-05	1.229e-05	1.38e-05	3.507e-05	8.34e-06	6.72e-06	9.32e-06	6.44e-06	0	0	0	0	0	0	1.353e-05	1.661e-05	3.507e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.33753	T	0.269	0.27235	T	0.997	0.90584	D	0.986	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.16	0.60381	M	1.27	0.47477	T	-3.13	0.63901	D	0.745	0.82358	-0.7271	0.59109	T	0.265	0.63652	T	10	0.5819343	0.65898	D	0.015314	0.35967	T	0.362	0.68230	0.186	0.09517	0.592980107456	0.58975	0.19059059367287617	0.18977	0.604833836903	0.55405	0.814469158649	0.84178	D	0.375321	0.73894	T	0.172637	0.71366	D	0.0738499	0.75167	D	0.893908083438873	0.54520	D	0.854215	0.71859	D	0.2339611	0.46209	0.24719098	0.50244	0.2339611	0.46209	0.24719098	0.50243	-9.505	0.70890	D	.	.	0.533	0.78437	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.828052	0.78704	27.0	0.99907875995010442	0.97801	0.99362	0.95033	D	AEFBI	0.868617	0.78881	D	0.761052935131931	0.83624	8.066109	0.764166895716148	0.87212	9.144698	0.999999988704157	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	9.323000	0.95598	11.669000	0.94079	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.876	0.92307	778	0.48011	.;.;.;.;.;.;.	.	.	.	.	.	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	1631.98	38	chr12	79808529	.	G	A	1631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.77;ReadPosRankSum=1.91;SOR=0.714	GT:AD:DP:GQ:PL	0/1:98,69:167:99:1646,0,2337	20	0	1	0
chr12	88125343	88125343	A	C	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon13:c.T1092G:p.I364M,	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	.	286	1232	3	1	0	5	0.00202511	.	.	265487	not_specified|CEP290-related_disorder|Retinitis_pigmentosa|Bardet-Biedl_syndrome_14|Senior-Loken_syndrome_6|Kidney_disorder|Stuve-Wiedemann_syndrome_2|not_provided|Inborn_genetic_diseases|Leber_congenital_amaurosis|Meckel-Gruber_syndrome|Familial_aplasia_of_the_vermis|Nephronophthisis|Meckel_syndrome,_type_4|Leber_congenital_amaurosis_10|Joubert_syndrome_5	MedGen:CN169374|MedGen:CN239314|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MONDO:MONDO:0030756,MedGen:C5676919,OMIM:619751|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.997	D	0.000	D	1.000	D	1.995	M	0.49	T	-0.638	T	0.243	T	0.673	3.643	18.52	4.29	2.047	3.404	3.302	0.213	0.0326795713933	0.0002	0.00139776	0.0020	0	0	0	0	0.0010	0	0.0048	0.0005433	84	154602	rs201988582	0.0005	0.0006	0.0004	0.0006	0.0039	0.0005	0.0005	0.0028	0.0026	0	0.0004	0	3.542e-05	4.588e-05	0.0039	0.0004	0.0007	0.0032	0.0007	0.0006	0.0006	0.0007	0.0031	0.0005	0.0005	0.0019	0.0015	7.223e-05	0	0.0006	0	0.0004	0	0.0034	0.0010	0.0019	0.0031	0.0	0.91255	D	0.014	0.62352	D	1.0	0.90584	D	0.997	0.86255	D	0.000014	0.62929	D	0.065902	0.99591	0.81001	D	2.42	0.70002	M	0.49	0.55775	T	-1.54	0.37375	N	0.802	0.84817	-0.6385	0.63209	T	0.243	0.61107	T	10	0.008333027	0.00189	T	0.03268	0.54438	D	0.213	0.50496	.	.	0.695477304189	0.69285	0.4610457371032954	0.46022	0.346408278094	0.36549	0.644531369209	0.59209	T	0.445526	0.78851	T	-0.221924	0.17733	T	-0.0933447	0.63909	T	0.0596651804224956	0.07115	T	0.889011	0.64401	D	0.41751882	0.61926	0.28417474	0.54414	0.41751882	0.61927	0.28417474	0.54413	-7.24	0.55768	T	0.7060571792666084	0.78568	0.211	0.43949	B	.;.;.;.	.;.;.;.	3.831699	0.55391	23.6	0.99641056332275402	0.76695	0.81923	0.41233	D	AEFGBI	0.321190	0.42406	N	0.594676514247452	0.72841	5.869719	0.565332388512811	0.72470	5.815016	0.221793946323817	0.18363	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.43	4.29	0.50359	3.499000	0.53071	3.933000	0.40549	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.6476:0.0:0.1609:0.1915	3.302	0.06577	842	0.36989	.;.;.;.	.	.	.	.	.	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	0	0	1	0	0.02381	323.98	34	chr12	88125343	.	A	C	323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=659;ExcessHet=0.0000;FS=2.869;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.31;ReadPosRankSum=-6.210e-01;SOR=1.244	GT:AD:DP:GQ:PL	0/1:24,15:39:99:338,0,507	20	0	1	0
chr12	95995846	95995880	AGCTGCGCGTCCTGGCAGGGCACTGCCAGCCATTC	-	exonic	HAL	.	frameshift deletion	HAL:NM_001258334:exon2:c.31_65del:p.E11Hfs*17	.	.	422	1093	7	0	0	7	0.00319197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	901.94	34	chr12	95995845	.	GAGCTGCGCGTCCTGGCAGGGCACTGCCAGCCATTC	G	901.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.198;DP=751;ExcessHet=0.0000;FS=4.202;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.40;ReadPosRankSum=0.093;SOR=1.329	GT:AD:DP:GQ:PL	0/1:31,24:55:99:916,0,1228	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|1:107,13,0,0,0:120:99:0|1:103984920_G_GA:186,0,4435,510,4474,4985,510,4474,4985,4985,510,4474,4985,4985,4985:103984920	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|1:107,13,0,0,0:120:99:0|1:103984920_G_GA:186,0,4435,510,4474,4985,510,4474,4985,4985,510,4474,4985,4985,4985:103984920	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|1:107,13,0,0,0:120:99:0|1:103984920_G_GA:186,0,4435,510,4474,4985,510,4474,4985,4985,510,4474,4985,4985,4985:103984920	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|1:107,13,0:120:99:0|1:103984920_G_GA:187,0,4434,510,4473,4984:103984920	11	0	6	3
chr12	111598975	111598975	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	3	208	8	0	7	15	0.0188679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	490.28	31	chr12	111598975	.	C	T,*	490.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-1.004e+00;DP=1004;ExcessHet=0.3300;FS=8.241;InbreedingCoeff=-0.0786;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=6.63;ReadPosRankSum=1.48;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,11,0:28:99:1|0:111598949_GGCT_G:363,0,681,414,714,1128:111598949	18	0	2	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|2:0,0,31:31:93:1|1:111598949_GGCT_G:1223,1223,1223,93,93,0:111598949	2	0	0	0
chr12	113127832	113127832	G	A	exonic	RASAL1	.	nonsynonymous SNV	RASAL1:NM_001193521:exon4:c.C278T:p.A93V	.	.	404	1089	28	1	0	30	0.013587	.	.	713346	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.34	T	0.653	P	0.115	B	0.059	N	1.000	N	0.49	N	2.98	T	-0.976	T	0.008	T	0.264	-0.956	0.331	1.92	0.649	0.507	3.130	0.017	.	0.0075	0.00738818	0.0084	0.0022	0.0042	0	0.0055	0.0101	0.0122	0.0139	0.0079624	1231	154602	rs146551951	0.0096	0.0096	0.0095	0.0097	0.0123	0.0094	0.0094	0.0117	0.0114	0.0022	0.0056	0.0071	5.043e-05	0.0056	0.0047	0.0103	0.0094	0.0123	0.0071	0.0071	0.0073	0.0069	0.0131	0.0067	0.0066	0.0105	0.0099	0.0017	0	0.0074	0.0066	0.0002	0.0043	0.0068	0.0109	0.0095	0.0131	0.342	0.12632	T	0.434	0.13557	T	0.184	0.40782	B	0.014	0.31843	B	0.059176	0.22344	N	0.493986	0.999842	0.20103	N	1.345	0.33447	L	2.98	0.09356	T	-0.72	0.22294	N	0.193	0.25622	-0.9761	0.35882	T	0.008	0.02884	T	10	0.0050355196	0.00108	T	.	.	.	0.017	0.02790	.	.	0.411401001288	0.40751	0.352845300908533	0.35198	0.294821894989	0.31898	0.385520458221	0.23036	T	0.011193	0.10021	T	-0.582659	0.00186	T	-0.598695	0.12921	T	0.00202395652669937	0.00021	T	0.776522	0.40874	T	0.049587294	0.08829	0.03540467	0.02787	0.049587294	0.08828	0.03540467	0.02786	-3.7	0.21328	T	0.14540798866455798	0.16692	0.082	0.10256	B	.;.;.;.	.;.;.;.	2.447649	0.31515	18.76	0.35405338665834779	0.02220	0.17063	0.19672	N	AEFDBI	0.135380	0.25569	N	-0.845387034176186	0.12163	0.5912431	-0.834392559455634	0.13663	0.7100093	0.856361246458402	0.25141	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.04	1.92	0.24912	0.501000	0.22286	1.671000	0.27955	-0.166000	0.11466	0.000000	0.06391	0.817000	0.27092	0.025000	0.12405	0.0865:0.1557:0.437:0.3209	3.130	0.06034	688	0.59122	.;C2 domain|C2 domain;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1614.98	34	chr12	113127832	.	G	A	1614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.830e-01;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-9.000e-03;SOR=0.641	GT:AD:DP:GQ:PL	0/1:68,66:134:99:1629,0,1722	20	0	1	0
chr12	118043202	118043202	C	T	exonic	WSB2	.	nonsynonymous SNV	WSB2:NM_001278557:exon3:c.G409A:p.D137N	.	.	427	1051	42	2	0	46	0.0214153	.	.	2816919	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.001	B	0.002	B	0.000	D	0.991	N	0.205	N	0.25	T	-1.076	T	0.078	T	0.146	1.454	10.80	5.1	2.644	2.268	7.604	0.070	0.00669402305542	0.0033	0.00239617	0.0038	0.0009	0.0018	0	0.0003	0.0055	0.0044	0.0039	0.0038357	593	154602	rs113350351	0.0040	0.0040	0.0039	0.0041	0.0182	0.0039	0.0038	0.0154	0.0143	0.0011	0.0024	0.0014	2.519e-05	0.0004	0.0182	0.0043	0.0044	0.0046	0.0033	0.0033	0.0034	0.0031	0.0050	0.0030	0.0029	0.0045	0.0043	0.0009	0.0175	0.0034	0.0003	0	9.411e-05	0.0408	0.0049	0.0085	0.0050	0.252	0.17296	T	0.491	0.12632	T	0.001	0.07471	B	0.002	0.06944	B	0.000045	0.53742	D	0.119854	1	0.24081	N	0.69	0.16971	N	0.21	0.63240	T	-0.16	0.10480	N	0.232	0.26596	-1.0760	0.08144	T	0.078	0.31103	T	10	0.0037802756	0.00070	T	0.006694	0.17671	T	0.070	0.20419	.	.	0.102598925029	0.09809	0.23975596845584812	0.23889	0.596358103577	0.54880	0.495998084545	0.38270	T	0.003968	0.03383	T	-0.480612	0.00733	T	-0.4615	0.26436	T	0.0266200910504644	0.01491	T	0.881612	0.60121	D	0.04471084	0.07193	0.03739401	0.03382	0.04471084	0.07192	0.03739401	0.03382	-4.579	0.31907	T	.	.	0.078	0.11654	B	.;.;.;.	.;.;.;.	3.233164	0.44098	21.9	0.99325207477311128	0.59546	0.32936	0.24707	N	AEFDBI	0.109280	0.21710	N	-0.299151625837231	0.29182	1.615994	-0.102068000330382	0.35308	2.041103	0.110898214784496	0.16645	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	1.885000	0.39312	5.978000	0.52118	0.599000	0.40250	0.018000	0.19461	1.000000	0.68203	0.844000	0.39860	0.0:0.8278:0.0:0.1722	7.604	0.27257	958	0.09170	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4752.11	34	chr12	118043202	.	C	T	4752.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.520e-01;DP=1105;ExcessHet=0.1072;FS=0.375;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=1.000e-03;SOR=0.672	GT:AD:DP:GQ:PL	0/1:91,100:191:99:2494,0,2373	19	0	2	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	0/4:40,0,0,0,9,0:49:73:73,193,1123,193,1123,1123,193,1123,1123,1123,0,931,931,931,904,193,1123,1123,1123,931,1123	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	0/4:40,0,0,0,9,0:49:73:73,193,1123,193,1123,1123,193,1123,1123,1123,0,931,931,931,904,193,1123,1123,1123,931,1123	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	0/4:40,0,0,0,9,0:49:73:73,193,1123,193,1123,1123,193,1123,1123,1123,0,931,931,931,904,193,1123,1123,1123,931,1123	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	0/4:40,0,0,0,9,0:49:73:73,193,1123,193,1123,1123,193,1123,1123,1123,0,931,931,931,904,193,1123,1123,1123,931,1123	4	0	0	0
chr12	122190278	122190278	A	G	exonic	LRRC43	.	nonsynonymous SNV	LRRC43:NM_001098519:exon5:c.A811G:p.I271V	.	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.003	B	0.002	B	0.093	N	0.716	N	1.825	L	1.77	T	-1.040	T	0.027	T	0.036	-0.084	3.588	-1.72	-0.560	-0.085	11.537	0.036	.	0.0053	0.00519169	0.0083	0.0014	0.0058	0	0.0029	0.0118	0.0078	0.0068	0.0079106	1223	154602	rs138172345	0.0079	0.0079	0.0079	0.0079	0.0170	0.0078	0.0077	0.0143	0.0133	0.0015	0.0059	0.0018	2.519e-05	0.0040	0.0170	0.0088	0.0078	0.0068	0.0059	0.0059	0.0063	0.0054	0.0091	0.0056	0.0054	0.0084	0.0082	0.0013	0	0.0091	0.0012	0	0.0026	0.0204	0.0090	0.0062	0.0081	0.569	0.08660	T	0.378	0.17014	T	0.003	0.11197	B	0.002	0.06944	B	0.092924	0.20249	N	0.502634	0.715986	0.29968	N	0.67	0.16346	N	1.77	0.25841	T	-0.21	0.10833	N	0.065	0.03726	-1.0403	0.17223	T	0.027	0.11663	T	10	0.0066871643	0.00152	T	.	.	.	0.036	0.09122	.	.	0.0138822411134	0.00435	0.3813495520131008	0.38049	0.201168129084	0.22514	0.284629940987	0.08147	T	0.00407	0.03483	T	-0.69704	0.00038	T	-0.764631	0.02949	T	0.00134554433574692	0.00013	T	0.664234	0.27311	T	0.026766114	0.01775	0.035503227	0.02815	0.026766114	0.01775	0.035503227	0.02815	-6.576	0.50869	T	.	.	0.056	0.00543	B	.;.	.;.	-0.641222	0.01463	0.090	0.47841072915640814	0.03944	0.05161	0.10976	N	AEFDBI	0.049523	0.08564	N	-0.988976136601366	0.08838	0.4159826	-0.998085431549693	0.09828	0.4912543	0.0057931333139533	0.11045	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.22	-1.72	0.07671	-0.020000	0.12466	-0.542000	0.08577	-0.087000	0.16196	0.011000	0.18532	0.000000	0.08366	0.067000	0.16453	0.5653:0.0:0.4347:0.0	11.537	0.49898	759	0.50631	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1034.98	40	chr12	122190278	.	A	G	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.166;DP=928;ExcessHet=0.0000;FS=1.453;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.35;ReadPosRankSum=1.71;SOR=0.547	GT:AD:DP:GQ:PL	0/1:74,50:124:99:1049,0,1805	20	0	1	0
chr12	123926653	123926653	A	G	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon68:c.A11584G:p.M3862V	.	.	.	.	.	.	.	.	.	.	.	2359664	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.000	D	1.000	D	-2.225	N	3.18	T	-0.980	T	0.004	T	0.24	-1.069	0.174	4.79	1.787	4.533	5.259	0.096	0.00549301333875	0.0002	0.000399361	0.0001	0.0007	0	0.0002	0	4.508e-05	0	6.083e-05	0.0001035	16	154602	rs142101429	9.034e-05	9.029e-05	8.715e-05	9.355e-05	0.0003	7.76e-05	7.303e-05	0.0001	0.0001	0.0003	0.0002	0	0.0001	1.874e-05	0.0002	7.916e-05	0.0002	8.12e-05	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	8.713e-05	0.0002	0.0002	0.0004	0	6.537e-05	0	0.0002	0	0	7.35e-05	0	0.0002	.	.	.	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.000007	0.62929	D	0.070492	0.832289	0.34936	D	-1.9	0.00240	N	.	.	.	.	.	.	.	.	-0.9800	0.35002	T	0.004	0.01330	T	10	0.016755104	0.00354	T	0.005493	0.14136	T	0.096	0.27654	.	.	0.0986583533028	0.09354	0.13042228629303115	0.12967	0.146576533323	0.16541	0.395446449518	0.24435	T	4.68E-4	0.00164	T	-0.49308	0.00625	T	-0.588567	0.13790	T	0.0136285068216957	0.00253	T	0.816118	0.47137	T	0.12990436	0.30326	0.1232394	0.29718	0.12990436	0.30326	0.1232394	0.29718	-0.071	0.00375	T	.	.	0.055	0.00420	B	.;.	.;.	2.162488	0.27548	17.50	0.76155555910686268	0.11355	0.60976	0.31350	D	AEFDBI	0.071676	0.14279	N	-0.718644117084577	0.15498	0.7815661	-0.413956018460894	0.24588	1.347235	0.332936350490836	0.19504	0.549168	0.22868	0	0.573888	0.26702	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.79	4.79	0.60909	4.576000	0.60626	4.647000	0.44180	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.941000	0.48210	0.7595:0.0:0.2405:0.0	5.259	0.14881	749	0.51929	Dynein heavy chain domain;Dynein heavy chain 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	2364.98	34	chr12	123926653	.	A	G	2364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.320e-01;DP=904;ExcessHet=0.0000;FS=0.519;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-1.411e+00;SOR=0.765	GT:AD:DP:GQ:PL	0/1:103,98:201:99:2379,0,2545	20	0	1	0
chr12	124402521	124402521	-	GCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGC:p.Q509_P510insQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	0/2:21,0,26,0,0:47:99:911,975,1785,0,810,732,975,1785,810,1785,975,1785,810,1785,1785	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	0/2:21,0,26,0,0:47:99:911,975,1785,0,810,732,975,1785,810,1785,975,1785,810,1785,1785	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	0/2:21,0,26,0,0:47:99:911,975,1785,0,810,732,975,1785,810,1785,975,1785,810,1785,1785	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	0/2:21,0,26,0,0:47:99:911,975,1785,0,810,732,975,1785,810,1785,975,1785,810,1785,1785	0	1	2	0
chr12	132148891	132149110	CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	-	exonic	NOC4L	.	frameshift deletion	NOC4L:NM_024078:exon9:c.897_901del:p.D299Efs*25,	.	.	422	945	57	36	62	191	0.063893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0042	0.0039	0.0041	0.0054	0.0037	0.0036	0.0045	0.0041	0.0042	0.0068	0.0054	0.0069	0.0014	0.0029	0.0072	0.0037	0.0095	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	21208.18	31	chr12	132148890	.	ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,A,ACCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	21208.18	.	AC=13,7,1,1;AF=0.310,0.167,0.024,0.024;AN=42;BaseQRankSum=0.920;DP=1350;ExcessHet=3.4384;FS=1.805;InbreedingCoeff=-0.1455;MLEAC=13,7,1,1;MLEAF=0.310,0.167,0.024,0.024;MQ=59.50;MQRankSum=-2.060e-01;QD=21.38;ReadPosRankSum=-1.910e-01;SOR=0.840	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,43,0,0,0:76:99:0|1:132148890_ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC_A:1687,0,1132,1786,1265,3052,1786,1265,3052,3052,1786,1265,3052,3052,3052:132148890	4	2	6	0
chr12	132510265	132510265	G	A	exonic	FBRSL1	.	nonsynonymous SNV	FBRSL1:NM_001382741:exon3:c.G1589A:p.R530Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049626624	5.38e-05	4.519e-05	5.448e-05	5.304e-05	0.0002	4.22e-05	3.859e-05	6.975e-05	4.212e-05	0	0	0	7.543e-05	4.691e-05	0	5.117e-05	9.176e-05	0.0002	3.286e-05	3.284e-05	1.285e-05	5.383e-05	7.241e-05	1.261e-05	7.98e-06	1.92e-05	1.032e-05	7.241e-05	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999917	0.19599	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121025056	0.22935	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01307	0.11369	T	.	.	.	.	.	.	.	.	.	0.494351	0.15306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15877	B	.	.	2.370861	0.30420	18.43	0.93665766134884254	0.23558	0.02535	0.07050	N	AEFBI	.	.	.	.	.	.	.	.	.	0.763207776033884	0.23545	0.090766	0.02384	0	0.104858	0.03167	0	0.129117	0.03641	0	0.083433	0.02327	0	0.24016	0.32172	3.72	1.33	0.20958	1.553000	0.35862	4.385000	0.43194	0.676000	0.76740	0.276000	0.25103	1.000000	0.68203	0.660000	0.32968	0.3077:0.0:0.6923:0.0	6.738	0.22609	482	0.77288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	69.21	1	chr12	132510265	.	G	A	69.21	.	AC=1;AF=0.042;AN=24;BaseQRankSum=0.524;DP=257;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1224;MLEAC=2;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=0.524;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:77,0,34	11	0	1	9
chr13	21155150	21155150	-	CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTA	exonic	SKA3	.	stopgain	SKA3:NM_001166017:exon8:c.1119_1120insTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG:p.K374_R388del,	.	.	433	1072	3	0	14	17	0.0013973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0002	0.0002	0.0005	0.0003	0.0003	0	0.0003	7.68e-05	2	26028	.	0.0008	0.0009	0.0004	0.0012	0.0033	0.0008	0.0008	0.0022	0.0018	0.0002	0.0005	0.0003	0.0018	0.0007	0.0033	0.0009	0.0009	0.0004	0.0005	0.0010	0.0003	0.0008	0.0017	0.0004	0.0004	0.0008	0.0006	0.0002	0	0.0008	0.0006	0.0002	0.0010	0	0.0006	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	659.05	34	chr13	21155150	.	T	TCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTA,TCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	659.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.61;DP=920;ExcessHet=0.1072;FS=11.162;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=4.67;ReadPosRankSum=-2.530e-01;SOR=1.561	GT:AD:DP:GQ:PL	0/1:64,11,0:75:99:262,0,2655,456,2688,3144	19	0	1	0
chr13	21155150	21155150	-	CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	exonic	SKA3	.	stoploss	SKA3:NM_001166017:exon8:c.1119_1120insTGCCACCCAGTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG:p.K374Cfs*46	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0005	0.0006	0.0020	0	0.0009	0.0013	0.0003	.	.	.	.	1.987e-05	2.326e-05	2.181e-05	1.791e-05	2.522e-05	1.394e-05	1.205e-05	3e-07	1.1e-07	0	0	0	2.522e-05	0.0005	0	1.801e-06	0	0	0.0012	0.0022	0.0009	0.0015	0.0037	0.0011	0.0010	0.0024	0.0020	0.0005	0	0.0017	0.0012	0.0019	0.0025	0	0.0011	0.0038	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	659.05	34	chr13	21155150	.	T	TCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTA,TCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	659.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=3.61;DP=920;ExcessHet=0.1072;FS=11.162;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=4.67;ReadPosRankSum=-2.530e-01;SOR=1.561	GT:AD:DP:GQ:PL	0/1:64,11,0:75:99:262,0,2655,456,2688,3144	19	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	0/2:1,10,42,0:53:99:1284,825,1927,0,1010,1124,1474,919,117,2593	1	1	4	0
chr13	21158126	21158126	-	AAAGCTATGCTGTTCTTTGTAGATGGAATTTTCAAACCAGGAGTACAGAATGTAGGTACCAAAGGAGAG	splicing	SKA3	NM_145061:exon7:c.916-1->CTCTCCTTTGGTACCTACATTCTGTACTCCTGGTTTGAAAATTCCATCTACAAAGAACAGCATAGCTTT;NM_001166017:exon7:c.916-1->CTCTCCTTTGGTACCTACATTCTGTACTCCTGGTTTGAAAATTCCATCTACAAAGAACAGCATAGCTTT	.	.	.	.	441	1022	31	2	26	61	0.016835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	0.0003	0.0004	0	0.0002	0	0.0004	.	.	.	.	0.0001	0.0001	9.436e-05	0.0002	0.0007	0.0001	0.0001	0.0003	0.0002	0	2.253e-05	3.894e-05	0.0003	0.0011	0.0007	9.754e-05	0.0002	8.265e-05	0.0002	0.0004	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	9.645e-05	0	0.0004	0	0.0002	0.0008	0	0.0003	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2496.07	43	chr13	21158126	.	C	CAAAGCTATGCTGTTCTTTGTAGATGGAATTTTCAAACCAGGAGTACAGAATGTAGGTACCAAAGGAGAG	2496.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.61;DP=982;ExcessHet=0.1072;FS=12.271;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=17.83;ReadPosRankSum=0.273;SOR=0.239	GT:AD:DP:GQ:PL	0/1:36,38:74:99:1479,0,1386	19	0	2	0
chr13	24706425	24706425	C	A	exonic	ATP12A	.	nonsynonymous SNV	ATP12A:NM_001185085:exon15:c.C2149A:p.Q717K	.	.	50	1444	28	0	0	28	0.00960219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.05	L	-3.84	D	0.820	D	0.836	D	0.314	4.976	29.1	5.79	2.727	7.726	17.517	0.698	.	0.0086	0.00539137	0.0075	0.0017	0.0041	0	0.0035	0.0085	0.0099	0.0153	0.0077101	1192	154602	rs61998252	0.0092	0.0092	0.0090	0.0094	0.0182	0.0091	0.0090	0.0154	0.0143	0.0016	0.0061	0.0035	5.038e-05	0.0042	0.0182	0.0097	0.0095	0.0150	0.0064	0.0064	0.0067	0.0061	0.0129	0.0061	0.0060	0.0103	0.0094	0.0023	0	0.0104	0.0037	0	0.0024	0.0170	0.0088	0.0095	0.0129	0.0	0.91255	D	0.17	0.30436	T	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.000000	1	0.81001	D	1.155	0.29575	L	-3.84	0.95826	D	-3.15	0.64132	D	0.777	0.77413	0.820	0.94657	D	0.836	0.94514	D	10	0.014782906	0.00311	T	.	.	.	0.698	0.89099	.	.	0.967406648624	0.96705	0.672687463921611	0.67206	0.941639018701	0.72234	0.680625915527	0.64358	T	0.874764	0.97325	D	-0.154589	0.27595	T	0.0174908	0.71468	D	0.0238445642850442	0.01125	T	0.972203	0.89922	D	0.75096107	0.80924	0.66239905	0.80214	0.75096107	0.80925	0.66239905	0.80215	-12.283	0.86366	D	.	.	0.179	0.42848	B	.;.	.;.	4.039287	0.59786	24.1	0.99597209159881028	0.73983	0.98369	0.82077	D	AEFBI	0.918231	0.88699	D	0.724002362018944	0.81204	7.468144	0.752245816033621	0.86324	8.852937	0.999999999707617	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.79	5.79	0.91751	7.813000	0.84661	4.912000	0.45962	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.548000	0.30127	0.0:1.0:0.0:0.0	17.517	0.87673	975	0.05339	.;.	.	.	.	.	.	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	3148.11	39	chr13	24706425	.	C	A	3148.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.120e-01;DP=944;ExcessHet=0.1072;FS=0.440;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=0.228;SOR=0.739	GT:AD:DP:GQ:PL	0/1:80,70:150:99:1758,0,2057	19	0	2	0
chr13	25097017	25097020	GACG	-	exonic	PABPC3	.	frameshift deletion	PABPC3:NM_030979:exon1:c.819_822del:p.T274Nfs*9,	.	.	426	825	261	1	9	272	0.13748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0002	0.0002	0.0040	0.0002	0.0002	0.0035	0.0033	0	0.0021	7.771e-05	0.0040	0	0.0002	4.518e-06	8.357e-05	0.0005	0.0038	0.0053	0.0031	0.0045	0.0558	0.0035	0.0034	0.0505	0.0484	0.0002	0	0.0081	0.0058	0.0558	0.0010	0	0.0010	0.0052	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	20220.35	244	chr13	25097016	.	AGACGGAACT	A,AGAACT	20220.35	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.45;DP=4626;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.33;MQRankSum=-1.066e+01;QD=4.53;ReadPosRankSum=-8.050e-01;SOR=1.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:235,35,0:270:99:0|1:25097005_A_G:762,0,9762,1470,9868,11337:25097005	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|2:235,0,35:270:99:0|1:25097005_A_G:762,1470,11337,0,9868,9762:25097005	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|2:235,0,35:270:99:0|1:25097005_A_G:762,1470,11337,0,9868,9762:25097005	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|1:227,35,0:262:99:0|1:25097005_A_G:766,0,9385,1450,9491,10940:25097005	4	0	16	0
chr13	30659316	30659316	A	G	exonic	USPL1	.	nonsynonymous SNV	USPL1:NM_001321534:exon6:c.A2252G:p.D751G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.993	D	0.000	D	0.981	D	1.995	M	1.99	T	-0.958	T	0.127	T	0.73	2.946	15.82	5.62	2.143	5.830	14.389	0.272	0.0221789472222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.059	0.45961	T	1.0	0.90584	D	0.993	0.81110	D	0.000067	0.52346	D	0.080190	0.981023	0.39730	D	2.015	0.55033	M	1.99	0.21666	T	-4.38	0.77143	D	0.401	0.44187	-0.9579	0.39571	T	0.127	0.43360	T	10	0.3097359	0.48458	T	0.022179	0.45042	T	0.272	0.58758	0.418	0.45873	0.259761712551	0.25597	0.4244878683107923	0.42365	0.349711268669	0.36819	0.389146417379	0.23550	T	0.088484	0.38167	T	0.0516234	0.58551	T	-0.163623	0.58024	T	0.987165093421936	0.77715	D	0.827217	0.49094	T	0.33073735	0.55531	0.3232673	0.58259	0.33073735	0.55531	0.3232673	0.58259	-5.065	0.41803	T	.	.	0.186	0.53891	B	.;.	.;.	3.906545	0.56943	23.8	0.99818938980701177	0.90238	0.92561	0.56001	D	AEFBCI	0.559293	0.56816	D	0.604061377321794	0.73430	5.965011	0.558150754788032	0.71965	5.736094	0.999999991769031	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.408882	0.06424	0	0.674467	0.66132	0	.	.	5.62	5.62	0.85714	5.844000	0.69149	11.086000	0.85840	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.776000	0.36750	1.0:0.0:0.0:0.0	14.389	0.66530	964	0.07719	Domain of unknown function DUF4650;.	.	.	.	.	.	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	1833.98	44	chr13	30659316	.	A	G	1833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.331;DP=956;ExcessHet=0.0000;FS=1.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.47;ReadPosRankSum=0.524;SOR=0.941	GT:AD:DP:GQ:PL	0/1:38,67:105:99:1848,0,959	20	0	1	0
chr13	30713841	30713841	-	GT	exonic	ALOX5AP	.	frameshift insertion	ALOX5AP:NM_001204406:exon1:c.116_117insGT:p.A40Wfs*25,	.	.	585	586	0	0	351	351	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0171	0.0263	0.0167	0.01	.	0.0067	0.0147	0.0200	0.225603	5872	26028	rs369636483	0.0003	0.0037	0.0003	0.0003	0.0035	0.0003	0.0003	0.0030	0.0028	0.0035	0.0014	0.0004	0.0007	9.077e-05	0.0007	0.0001	0.0004	0.0012	7.233e-05	0.0001	7.041e-05	7.436e-05	0.0001	3.094e-05	2.103e-05	5.452e-05	3.56e-05	0.0001	0	0	0	0	0	0	3.702e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8628.76	35	chr13	30713841	.	G	GGT,GGTGT	8628.76	.	AC=1,7;AF=0.024,0.167;AN=42;BaseQRankSum=0.564;DP=1049;ExcessHet=0.5418;FS=1.813;InbreedingCoeff=0.0735;MLEAC=1,7;MLEAF=0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=18.68;ReadPosRankSum=0.256;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:34,4,29:67:99:.:.:1136,860,2132,0,1212,1264	14	0	0	0
chr13	32338481	32338481	G	C	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.G4126C:p.G1376R,	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.986	D	0.741	P	0.440	N	1.000	N	1.87	L	5.53	T	-0.869	T	0.010	T	0.658	2.492	14.29	5.75	2.711	2.969	18.115	0.144	0.0644826263119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.373e-06	3.42e-05	1.366e-06	1.381e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.118	0.36233	T	.	.	.	.	.	.	0.440315	0.12636	N	0.743599	0.99995	0.19072	N	.	.	.	5.53	0.00894	T	-4.25	0.76094	D	0.37	0.43029	-0.8687	0.50627	T	0.010	0.03582	T	10	0.2966704	0.47231	T	0.064483	0.69290	D	0.144	0.38394	0.182	0.09004	0.913535812815	0.91266	0.25729930238969034	0.25643	0.0490563418063	0.05365	0.241285592318	0.02907	T	.	.	.	-0.0534321	0.43926	T	-0.314528	0.43171	T	0.917296528816223	0.57507	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.38605	B	.;.	.;.	2.291920	0.29320	18.08	0.99600381122847492	0.74160	0.64343	0.32376	D	AEFDBIJ	0.233910	0.35676	N	0.249152421986363	0.53596	3.52787	0.177354938143792	0.48609	3.074516	0.999999999965797	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.75	5.75	0.90390	3.055000	0.49608	4.485000	0.43549	0.656000	0.54149	0.178000	0.24038	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.115	0.89476	748	0.52143	.;.	.	.	.	.	.	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	0.04167	149.63	86	chr13	32338481	.	G	C	149.63	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-2.791e+00;DP=1742;ExcessHet=0.0000;FS=195.941;InbreedingCoeff=-0.1671;MLEAC=2;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=3.30;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,21:133:99:0|1:32338481_G_C:159,0,3901:32338481	11	0	1	9
chr13	32338482	32338482	G	C	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.G4127C:p.G1376A,	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.952	P	0.368	B	0.440	N	1.000	N	1.87	L	5.56	T	-0.966	T	0.003	T	0.55	1.592	11.28	-2.54	-0.396	0.309	6.770	0.177	0.0438134422846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.278e-05	0.0006	2.473e-05	2.082e-05	2.9e-05	1.625e-05	1.429e-05	2.099e-05	1.796e-05	0	0	0	0	0	0	2.9e-05	1.669e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.24857	T	0.773	0.04431	T	.	.	.	.	.	.	0.440315	0.12636	N	0.743599	1	0.08975	N	.	.	.	5.56	0.00864	T	-3.39	0.66896	D	0.271	0.38335	-0.9655	0.38112	T	0.003	0.00994	T	10	0.16124925	0.30251	T	0.043813	0.61176	D	0.177	0.44549	0.187	0.09646	0.848475197848	0.84702	0.1506746443554609	0.14989	0.0782521929742	0.08805	0.22298027575	0.01489	T	.	.	.	-0.136464	0.30456	T	-0.433797	0.29504	T	0.382245836690281	0.28269	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.33823	B	.;.	.;.	1.061239	0.14430	11.00	0.95707531796490708	0.27610	0.24489	0.22409	N	AEFDBIJ	0.098221	0.19796	N	-0.588099796812623	0.19305	1.009324	-0.714807599775176	0.16593	0.8784747	0.999355546631917	0.39259	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.75	-2.54	0.05941	0.337000	0.19582	0.799000	0.21641	0.656000	0.54149	0.043000	0.21118	0.973000	0.29867	0.993000	0.69303	0.4902:0.0:0.3938:0.1159	6.770	0.22773	748	0.52143	.;.	.	.	.	.	.	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	144.98	109	chr13	32338482	.	G	C	144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.256e+00;DP=1956;ExcessHet=0.0000;FS=79.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=-2.030e-01;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,21:133:99:0|1:32338481_G_C:159,0,3901:32338481	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	0/1:117,51:176:98:98,0,2445	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	0/1:109,34:143:99:.:.:209,0,2395	0	0	20	1
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P,	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.42	M	-3.77	D	1.097	D	0.943	D	0.995	4.463	23.8	5.48	2.086	7.698	15.564	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2619	1269.87	115	chr13	48459808	.	T	C	1269.87	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-3.482e+00;DP=2175;ExcessHet=7.7275;FS=135.304;InbreedingCoeff=-0.3657;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=0.91;ReadPosRankSum=0.896;SOR=12.258	GT:AD:DP:GQ:PL	0/1:115,47:162:99:175,0,1906	10	0	11	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.995	D	0.000	D	0.987	D	3.165	M	-0.39	T	0.346	D	0.580	D	0.608	3.858	19.60	5.08	2.520	4.058	18.834	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	1218.29	151	chr13	69882456	.	G	A	1218.29	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-2.253e+00;DP=2755;ExcessHet=17.4423;FS=173.681;InbreedingCoeff=-0.5810;MLEAC=15;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.201;SOR=13.428	GT:AD:DP:GQ:PL	0/1:109,27:136:2:2,0,1923	5	0	15	1
chr13	76957644	76957644	G	T	exonic	ACOD1	.	nonsynonymous SNV	ACOD1:NM_001258406:exon5:c.G1105T:p.V369L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.000	D	0.565	N	2.445	M	.	.	-0.396	T	0.242	T	0.527	2.769	15.22	5.07	1.521	2.864	7.148	0.187	0.0291721436055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.152e-07	6.84e-07	1.411e-06	0	9.268e-07	0	0	.	.	0	0	0	0	0	0	9.268e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.022	0.57587	D	.	.	.	.	.	.	0.000051	0.53742	D	0.162341	0.565117	0.31225	N	2.8	0.81625	M	.	.	.	-2.16	0.48850	N	0.381	0.42247	-0.3961	0.72150	T	0.242	0.61036	T	7	0.56662613	0.65086	D	0.029172	0.51725	D	0.187	0.46274	0.674	0.81200	0.0920862733494	0.08535	0.695058440552083	0.69446	.	.	0.328187942505	0.14660	T	0.049565	0.28344	T	0.0128238	0.53409	T	-0.219356	0.52799	T	0.983084499835968	0.74885	D	0.949505	0.80559	D	0.45412558	0.64302	0.22371483	0.47260	0.45412558	0.64303	0.22371483	0.47259	-7.207	0.55532	T	.	.	0.621	0.69755	P	.;.	.;.	3.002231	0.40121	21.1	0.99121614643522749	0.53011	0.95147	0.63610	D	AEFBI	0.667712	0.63574	D	0.153927992730183	0.48997	3.105252	0.170424303672945	0.48233	3.042127	0.999999077180837	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.91	5.07	0.68106	3.497000	0.53057	3.765000	0.39732	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.535000	0.29822	0.2808:0.0:0.7192:0.0	7.148	0.24770	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	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	1754.98	42	chr13	76957644	.	G	T	1754.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.403;DP=882;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-1.162e+00;SOR=0.658	GT:AD:DP:GQ:PL	0/1:78,68:146:99:1769,0,2136	20	0	1	0
chr13	99970416	99970416	-	GGC	exonic	ZIC5	.	nonframeshift insertion	ZIC5:NM_033132:exon1:c.1259_1260insGCC:p.P424_A425insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772098205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	10227.81	36	chr13	99970413	.	TGGC	T,TGGCGGC	10227.81	.	AC=11,3;AF=0.262,0.071;AN=42;BaseQRankSum=0.619;DP=1251;ExcessHet=2.0984;FS=0.000;InbreedingCoeff=-0.0714;MLEAC=11,3;MLEAF=0.262,0.071;MQ=60.00;MQRankSum=0.00;QD=21.22;ReadPosRankSum=0.351;SOR=0.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,22,0:31:99:.:.:845,0,296,872,363,1235	9	2	7	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|1:38,33,0:71:99:0|1:110456942_C_G:343,0,1391,458,1458,1916:110456942	0	0	8	12
chr13	112547554	112547568	TGGGAAAGTCGCGCG	-	exonic	TUBGCP3	.	nonframeshift deletion	TUBGCP3:NM_001286279:exon10:c.1220_1234del:p.T412_P416del,	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:106,0,0,66,0,0:172:99:0|1:112547538_ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG_A:2453,2772,7102,2772,7102,7102,0,4330,4330,4120,2772,7102,7102,4330,7102,2772,7102,7102,4330,7102,7102:112547538	7	0	5	0
chr13	112547538	112547568	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:106,0,0,66,0,0:172:99:0|1:112547538_ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG_A:2453,2772,7102,2772,7102,7102,0,4330,4330,4120,2772,7102,7102,4330,7102,2772,7102,7102,4330,7102,7102:112547538	7	0	5	0
chr13	112547568	112547568	-	TGGGAAAGTCGCGCG	exonic	TUBGCP3	.	nonframeshift insertion	TUBGCP3:NM_001286279:exon10:c.1219_1220insCGCGCGACTTTCCCA:p.P416_M417insTRDFP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:106,0,0,66,0,0:172:99:0|1:112547538_ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG_A:2453,2772,7102,2772,7102,7102,0,4330,4330,4120,2772,7102,7102,4330,7102,2772,7102,7102,4330,7102,7102:112547538	7	0	5	0
chr13	112547564	112547564	G	0	exonic	TUBGCP3	.	.	.	.	.	436	917	58	3	108	172	0.0337197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2451.41	175	chr13	112547564	.	G	A,*	2451.41	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=-1.472e+00;DP=2434;ExcessHet=0.1072;FS=1.260;InbreedingCoeff=-0.0633;MLEAC=1,1;MLEAF=0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=6.85;ReadPosRankSum=0.573;SOR=0.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:106,0,66:172:99:0|1:112547538_ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG_A:2453,2772,7102,0,4330,4120:112547538	18	0	1	1
chr13	112547565	112547565	C	0	exonic	TUBGCP3	.	.	.	.	.	443	851	116	13	99	241	0.0770065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	24873.61	185	chr13	112547565	.	C	T,*	24873.61	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.983;DP=2360;ExcessHet=3.5521;FS=1.103;InbreedingCoeff=-0.2353;MLEAC=7,1;MLEAF=0.167,0.024;MQ=59.97;MQRankSum=0.00;QD=16.56;ReadPosRankSum=-7.970e-01;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:106,0,66:172:99:0|1:112547538_ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG_A:2453,2772,7102,0,4330,4120:112547538	13	0	7	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	1/1:0,38,0:38:99:.:.:1278,114,0,1278,114,1278	4	5	6	3
chr14	19434189	19434189	C	A	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon1:c.G101T:p.W34L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	0	N	1.81	T	-0.976	T	0.026	T	0.237	0.017	4.102	.	0.269	-0.375	.	0.021	0.00128155769921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.334	0.18340	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.83	0.24841	T	-0.17	0.09627	N	0.297	0.33578	-0.9761	0.35882	T	0.026	0.11220	T	6	0.08202469	0.13491	T	0.001282	0.01759	T	.	.	0.428	0.47515	0.110392049598	0.10638	0.006842289954473786	0.00651	.	.	0.519134283066	0.41504	T	0.002626	0.02014	T	-0.25332	0.13694	T	-0.601653	0.12672	T	0.0867556776392362	0.10828	T	0.70423	0.31438	T	0.07382534	0.16523	0.17921346	0.40641	0.07382534	0.16523	0.17921346	0.40640	-7.762	0.59437	D	.	.	0.139	0.30318	B	.	.	1.359874	0.17685	13.31	0.88747933187766637	0.18223	0.00411	0.02041	N	AEFI	0.028133	0.02424	N	-1.26738364565772	0.04075	0.1832279	-1.35986475374021	0.03691	0.172692	1.13825100950466E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.197000	0.09519	-6.288000	0.01441	0.188000	0.17839	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	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	1798.98	648	chr14	19434189	.	C	A	1798.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.460e-01;DP=9117;ExcessHet=0.0000;FS=3.395;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.33;MQRankSum=4.76;QD=2.52;ReadPosRankSum=-2.618e+00;SOR=0.967	GT:AD:DP:GQ:PL	0/1:580,133:713:99:1813,0,14225	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|2:18,0,6:24:99:0|1:23104886_GGCAGCAGCAGCAGCA_G:198,252,1008,0,756,737:23104886	15	0	1	3
chr14	24428877	24428877	C	T	exonic	CBLN3	.	nonsynonymous SNV	CBLN3:NM_001039771:exon1:c.G178A:p.G60R,	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.997	D	0.787	P	0.004	N	1.000	D	0.895	L	-1.54	D	-0.403	T	0.419	T	0.452	3.020	16.08	4.81	2.682	1.679	10.982	0.253	0.0633693108647	.	.	1.557e-05	0	0	0	0	2.931e-05	0	0	6.5e-06	1	154602	rs200467816	3.169e-05	3.147e-05	2.877e-05	3.465e-05	0.0007	2.43e-05	2.173e-05	0.0002	0.0001	0	0	0	2.569e-05	1.916e-05	0.0007	3.522e-05	1.667e-05	0	1.973e-05	1.97e-05	1.286e-05	2.692e-05	4.413e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0	0.36	0.11919	T	0.396	0.15206	T	0.997	0.70673	D	0.787	0.57594	P	0.003889	0.34365	N	0.137787	0.932892	0.81001	D	1.525	0.38595	L	-1.54	0.81640	D	0.59	0.02558	N	0.238	0.26837	-0.4034	0.71920	T	0.419	0.76503	T	10	0.2242814	0.39228	T	0.063369	0.68947	D	0.253	0.56294	0.302	0.27003	0.809211878882	0.80742	0.5105308339934019	0.50975	0.900146455549	0.70606	0.741972208023	0.73263	T	0.09243	0.39002	T	-0.0578769	0.43240	T	-0.231182	0.51659	T	0.538841664791107	0.34061	D	0.686731	0.29555	T	0.07848077	0.17874	0.10174087	0.24364	0.07848077	0.17874	0.10174087	0.24363	-3.722	0.19643	T	.	.	0.160	0.35310	B	.	.	4.108614	0.61322	24.3	0.99897598899995388	0.97048	0.28417	0.23548	N	AEFDBCI	0.173302	0.30038	N	0.0976273135980864	0.46350	2.876871	0.0685479436369291	0.42978	2.60917	0.999999365513323	0.74766	0.582742	0.33608	0	0.296712	0.05252	1	0.61531	0.40942	0	0.567892	0.33627	0	.	.	5.7	4.81	0.61401	0.393000	0.20543	4.780000	0.44829	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.619000	0.31870	0.0:0.9117:0.0:0.0883	10.982	0.46716	809	0.43032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	521.98	33	chr14	24428877	.	C	T	521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.811;DP=743;ExcessHet=0.0000;FS=2.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=2.04;SOR=0.701	GT:AD:DP:GQ:PL	0/1:36,24:60:99:536,0,827	20	0	1	0
chr14	33801080	33801080	G	C	exonic	NPAS3	.	nonsynonymous SNV	NPAS3:NM_001165893:exon11:c.G2683C:p.A895P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.002	B	0.001	D	1.000	D	0.345	N	3.13	T	-1.040	T	0.019	T	0.605	2.639	14.78	4.6	2.672	2.718	13.267	0.193	0.00356386904702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.021	0.59159	D	0.0	0.02946	B	0.002	0.06944	B	0.000797	0.41772	D	0.250873	0.510681	0.31650	N	0.55	0.14455	N	3.13	0.10578	T	-1.31	0.32791	N	0.509	0.54234	-1.0397	0.17404	T	0.019	0.08079	T	10	0.24327093	0.41538	T	0.003564	0.08123	T	0.193	0.47281	0.3	0.26683	0.353352923073	0.34951	0.4706093762622014	0.46979	1.23739043305	0.81503	0.515695571899	0.41021	T	0.02384	0.43597	T	-0.116422	0.33708	T	-0.405008	0.32802	T	0.887138247489929	0.53761	D	0.89651	0.63872	D	0.34763414	0.56882	0.4068303	0.65045	0.34763414	0.56882	0.4068303	0.65045	-9.259	0.71325	D	.	.	0.176	0.42375	B	.;.;.;.;.;.	.;.;.;.;.;.	3.098493	0.41745	21.4	0.99383677932899961	0.62024	0.94426	0.61127	D	AEFDBI	0.717036	0.66868	D	-0.104321592181065	0.37204	2.16118	0.111272903296851	0.45123	2.781219	0.252161527628847	0.18691	0.549168	0.22868	0	0.588015	0.36545	0	0.658952	0.52864	0	0.616125	0.45549	0	.	.	5.68	4.6	0.56512	2.749000	0.47168	7.310000	0.58122	0.586000	0.30580	0.999000	0.42656	1.000000	0.68203	0.992000	0.67800	0.1197:0.0:0.8803:0.0	13.267	0.59570	935	0.14827	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1820.98	33	chr14	33801080	.	G	C	1820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e+00;DP=850;ExcessHet=0.0000;FS=2.961;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-3.200e-01;SOR=0.973	GT:AD:DP:GQ:PL	0/1:76,75:151:99:1835,0,1914	20	0	1	0
chr14	37592558	37592558	C	G	exonic	FOXA1	.	nonsynonymous SNV	FOXA1:NM_004496:exon2:c.G226C:p.G76R,	.	.	427	1093	2	0	0	2	0.000914077	.	.	2337498	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.977	D	0.036	U	1.000	D	2.05	M	1.8	T	-0.816	T	0.155	T	0.434	4.902	28.2	4.16	2.135	3.814	16.257	0.306	0.0280549931822	7.9e-05	.	8.339e-06	0	0	0	0	1.52e-05	0	0	6.5e-06	1	154602	rs368989227	1.163e-05	1.163e-05	4.084e-06	1.925e-05	0.0003	7.09e-06	5.79e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.169e-05	3.312e-05	0	6.571e-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	0.003	0.68238	D	0.017	0.60337	D	0.999	0.77913	D	0.977	0.73820	D	0.036038	0.24572	U	0.293579	1	0.81001	D	2.585	0.75554	M	1.8	0.25344	T	-2.21	0.49684	N	0.552	0.57775	-0.8164	0.54158	T	0.155	0.48602	T	10	0.63916534	0.68956	D	0.028055	0.50789	D	0.306	0.62729	.	.	0.532407240426	0.52889	0.6957414976324975	0.69515	.	.	0.802088499069	0.82281	T	0.371992	0.73626	T	-0.0827618	0.39263	T	-0.356658	0.38438	T	0.831929401955793	0.48680	D	0.884412	0.60756	D	0.2762942	0.50691	0.33820984	0.59602	0.2762942	0.50691	0.33820984	0.59601	-9.792	0.72656	D	.	.	0.890	0.82105	P	.	.	4.750415	0.76703	26.6	0.9991371682283583	0.98238	0.95959	0.66899	D	AEFDBHCI	0.764079	0.70098	D	0.587394758917952	0.72387	5.797721	0.523659036875885	0.69585	5.381539	1.0	0.98316	0.582742	0.33608	0	0.573888	0.26702	0	0.606814	0.37721	0	0.620976	0.48614	0	.	.	4.16	4.16	0.48138	3.990000	0.56677	7.715000	0.67011	0.587000	0.30956	0.725000	0.28872	1.000000	0.68203	0.290000	0.24260	0.0:1.0:0.0:0.0	16.257	0.82349	649	0.63102	Fork-head 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	1855.98	33	chr14	37592558	.	C	G	1855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.713;DP=1005;ExcessHet=0.0000;FS=1.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=0.192;SOR=0.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,82:173:99:0|1:37592537_C_T:1870,0,2104:37592537	20	0	1	0
chr14	52274879	52274879	G	A	exonic	PTGDR	.	nonsynonymous SNV	PTGDR:NM_000953:exon2:c.G995A:p.R332Q,	.	.	431	1073	18	0	0	18	0.00831793	.	.	2810423	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.971	D	0.49	P	0.001	D	1.000	D	0	N	0.41	T	-0.942	T	0.082	T	0.306	4.229	22.0	5.2	2.814	5.325	18.201	0.100	.	0.0083	0.00479233	0.0068	0.0028	0.0076	0.0005	0.0015	0.0098	0.0033	0.0024	0.0069081	1068	154602	rs41312506	0.0094	0.0095	0.0096	0.0093	0.0110	0.0093	0.0092	0.0108	0.0107	0.0018	0.0068	0.0152	0.0001	0.0025	0.0049	0.0110	0.0076	0.0026	0.0064	0.0064	0.0072	0.0055	0.0095	0.0061	0.0059	0.0089	0.0087	0.0028	0	0.0068	0.0150	0.0008	0.0021	0.0136	0.0095	0.0057	0.0025	0.202	0.20230	T	0.135	0.34124	T	0.971	0.57185	D	0.49	0.47330	P	0.000514	0.43753	D	0.000000	0.997587	0.81001	D	0.975	0.24501	L	0.41	0.57100	T	-1.11	0.28703	N	0.512	0.54322	-0.9419	0.42314	T	0.082	0.32148	T	10	0.0035287142	0.00063	T	.	.	.	0.100	0.28662	.	.	0.701814409658	0.69922	0.7192917017150969	0.71872	1.14603378433	0.79078	0.383094370365	0.22695	T	0.241192	0.60967	T	-0.422193	0.01657	T	-0.367551	0.37174	T	0.025664500669609	0.01361	T	0.763424	0.38984	T	0.14190471	0.32679	0.13745788	0.32856	0.14190471	0.32679	0.13745788	0.32855	-5.525	0.42101	T	.	.	0.134	0.29116	B	.	.	4.869678	0.79763	27.2	0.99947268822099244	0.99913	0.97928	0.78194	D	AEFBI	0.681175	0.64461	D	0.325560549258296	0.57463	3.913804	0.412121553568901	0.62318	4.445355	0.999999545287236	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.2	5.2	0.71720	5.301000	0.65520	7.109000	0.57560	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.470000	0.28341	0.0:0.0:1.0:0.0	18.201	0.89774	905	0.23532	.	TXNDC16	Esophagus_Mucosa	.	.	.	Uncertain significance	0	0	0	0	0	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	973.98	34	chr14	52274879	.	G	A	973.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=854;ExcessHet=0.0000;FS=0.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-1.839e+00;SOR=0.879	GT:AD:DP:GQ:PL	0/1:53,38:91:99:988,0,1361	20	0	1	0
chr14	54531033	54531033	C	T	exonic	CGRRF1	.	nonsynonymous SNV	CGRRF1:NM_006568:exon4:c.C553T:p.R185W,	.	.	432	1077	13	0	0	13	0.00599908	.	.	725692	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.15	T	0.999	D	0.828	P	0.001	D	0.995	D	1.67	L	1.62	T	-1.057	T	0.067	T	0.361	3.708	18.83	4.59	1.495	2.898	12.301	0.101	.	0.0075	0.00339457	0.0074	0.0019	0.0079	0	0.0033	0.0105	0.0070	0.0040	0.0071927	1112	154602	rs34839928	0.0089	0.0090	0.0090	0.0089	0.0125	0.0088	0.0087	0.0102	0.0099	0.0026	0.0102	0.0010	0.0001	0.0044	0.0125	0.0101	0.0103	0.0030	0.0075	0.0075	0.0075	0.0074	0.0189	0.0071	0.0070	0.0171	0.0164	0.0021	0	0.0189	0.0006	0	0.0028	0.0102	0.0100	0.0156	0.0027	0.014	0.53172	D	0.019	0.59159	D	0.999	0.77913	D	0.828	0.59497	P	0.000525	0.43581	D	0.252112	0.994756	0.42403	D	1.845	0.48678	L	1.62	0.28189	T	-2.27	0.50666	N	0.656	0.66615	-1.0566	0.12621	T	0.067	0.27502	T	10	0.006599784	0.00149	T	.	.	.	0.101	0.28911	.	.	0.415313616471	0.41148	0.6283870788807333	0.62771	0.451217625391	0.44872	0.34764662385	0.17576	T	0.075838	0.35275	T	-0.449287	0.01140	T	-0.40647	0.32632	T	0.0550796537655671	0.06371	T	0.868613	0.57103	D	0.106639296	0.25216	0.10118104	0.24215	0.106639296	0.25216	0.10118104	0.24215	-7.207	0.55532	T	.	.	0.152	0.33619	B	.	.	4.825046	0.78622	26.9	0.99915803401393699	0.98379	0.85415	0.44545	D	AEFBI	0.534647	0.55360	D	0.430531300260457	0.63109	4.538369	0.438042491003234	0.63954	4.639709	0.716162251239113	0.22876	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.5	4.59	0.56297	2.768000	0.47329	4.891000	0.45764	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.4859:0.5141:0.0:0.0	12.301	0.54197	793	0.45818	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	119.98	35	chr14	54531033	.	C	T	119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.219e+00;DP=770;ExcessHet=0.0000;FS=18.720;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.35;ReadPosRankSum=0.438;SOR=1.108	GT:AD:DP:GQ:PL	0/1:67,22:89:99:134,0,1387	20	0	1	0
chr14	54989169	54989169	T	C	exonic	WDHD1	.	nonsynonymous SNV	WDHD1:NM_001008396:exon12:c.A1016G:p.Q339R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.565	P	0.205	B	0.000	D	1.000	D	2.175	M	0.4	T	-0.746	T	0.225	T	0.536	3.632	18.47	5.28	1.994	7.756	15.192	0.155	0.0306006386241	.	.	8.245e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs747595111	4.106e-06	4.104e-06	4.085e-06	4.127e-06	2.238e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	2.238e-05	0	0	0	0	4.497e-06	0	0	2.628e-05	2.627e-05	3.854e-05	1.345e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.026	0.51853	D	0.005	0.72224	D	0.565	0.38434	P	0.205	0.37080	B	0.000001	0.84330	D	0.056324	0.999999	0.81001	D	2.62	0.76659	M	0.4	0.62051	T	-2.11	0.48020	N	0.574	0.59648	-0.7463	0.58128	T	0.225	0.58995	T	10	0.41139224	0.56249	T	0.030601	0.52874	D	0.155	0.40530	.	.	0.77357140602	0.77149	0.3911250860792937	0.39027	0.0505833985199	0.05556	0.645160138607	0.59298	T	0.004332	0.03739	T	-0.00602662	0.50820	T	-0.163568	0.58030	T	0.559316754341125	0.34830	D	0.809719	0.46038	T	0.71445906	0.78854	0.45996156	0.68632	0.71445906	0.78855	0.45996156	0.68632	-12.247	0.86033	D	.	.	0.136	0.29505	B	.;.	.;.	3.773350	0.54214	23.5	0.9968427772665428	0.79507	0.98081	0.79437	D	AEFGBI	0.896358	0.83734	D	0.280866178229071	0.55178	3.682178	0.367809341939449	0.59589	4.13789	0.999999705475191	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	7.735000	0.83874	6.085000	0.53387	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:0.0:0.0:1.0	15.192	0.72739	708	0.56926	Minichromosome loss protein Mcl1, middle 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	722.98	41	chr14	54989169	.	T	C	722.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.611;DP=765;ExcessHet=0.0000;FS=5.256;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.77;ReadPosRankSum=0.022;SOR=1.383	GT:AD:DP:GQ:PL	0/1:44,30:74:99:737,0,1154	20	0	1	0
chr14	57479027	57479027	T	C	splicing	CCDC198	NM_001283060:exon6:c.419-2A>G	.	.	.	.	.	.	.	.	.	.	.	0	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.759e-06	1.368e-06	1.726e-06	1.793e-06	2.172e-06	2.9e-07	1.1e-07	3.6e-07	1.4e-07	0	0	0	0	0	0	2.172e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	539.98	38	chr14	57479027	.	T	C	539.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.261e+00;DP=863;ExcessHet=0.0000;FS=0.938;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.83;ReadPosRankSum=-3.340e-01;SOR=0.859	GT:AD:DP:GQ:PL	0/1:43,26:69:99:554,0,1141	20	0	1	0
chr14	58138194	58138194	A	G	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon2:c.T1165C:p.S389P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.989	D	0.885	P	0.214	N	1.000	N	1.735	L	1.68	T	-1.054	T	0.102	T	0.699	3.193	16.69	2.08	0.107	0.322	7.430	0.182	0.00991569293664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.003	0.76473	D	0.989	0.62824	D	0.885	0.62825	P	0.214351	0.16289	N	0.566984	1	0.08975	N	.	.	.	1.68	0.27184	T	-2.49	0.54217	N	0.17	0.18103	-1.0535	0.13440	T	0.102	0.37568	T	10	0.1590898	0.29900	T	0.009916	0.25833	T	0.182	0.45420	0.374	0.38667	0.0666544352282	0.05500	0.13696643335137432	0.13620	0.121842658127	0.13733	.	.	.	0.025561	0.19086	T	-0.0273703	0.47799	T	-0.277092	0.47102	T	0.522264003753662	0.33449	D	0.49655	0.15423	T	0.24250986	0.47179	0.2958181	0.55614	0.24250986	0.47179	0.2958181	0.55613	-4.12	0.25584	T	.	.	0.088	0.11749	B	.	.	1.334307	0.17401	13.14	0.99607788779664785	0.74634	0.04756	0.10462	N	AEFGBCI	0.103078	0.20660	N	-0.222407257448638	0.32215	1.814444	-0.420636230168889	0.24392	1.335448	0.999940150298763	0.47345	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.86	2.08	0.26079	0.156000	0.16200	1.252000	0.25176	0.751000	0.87719	0.001000	0.13787	0.087000	0.22477	0.167000	0.20881	0.4904:0.4346:0.075:0.0	7.430	0.26296	875	0.30485	.	.	.	.	.	.	Uncertain significance	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	321.68	35	chr14	58138194	.	A	G	321.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.825e+00;DP=1819;ExcessHet=0.3300;FS=107.760;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=1.27;SOR=8.424	GT:AD:DP:GQ:PL	0/1:136,29:165:25:25,0,3265	18	0	3	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	0/1:57,25:82:99:162,0,1055	0	0	21	0
chr14	63599647	63599647	G	A	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.C296T:p.A99V	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.028	N	0.974	N	0.55	N	1.72	T	-1.020	T	0.105	T	0.332	-1.894	0.008	3.69	1.436	1.174	9.067	0.105	0.0145605114255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.028159	0.25646	N	0.429788	0.97414	0.25508	N	0.535	0.13693	N	-0.03	0.63077	T	1.44	0.00794	N	0.049	0.04426	-1.0195	0.23877	T	0.105	0.38341	T	10	0.09150803	0.16035	T	0.014561	0.34757	T	0.105	0.29889	0.264	0.20946	0.376745185316	0.37282	0.2478355583147812	0.24697	0.112047080189	0.12641	0.303955316544	0.10993	T	0.020035	0.15845	T	-0.11573	0.33825	T	-0.404015	0.32918	T	0.0501358695328236	0.05523	T	0.767423	0.39759	T	0.016234163	0.00184	0.03721827	0.03327	0.016234163	0.00184	0.03721827	0.03327	-2.537	0.06039	T	.	.	0.087	0.13456	B	.;.;.;.	.;.;.;.	0.947152	0.13229	9.732	0.64409535851259925	0.07486	0.80416	0.40060	D	AEFGBI	0.130632	0.24926	N	-0.758421672255577	0.14405	0.7173128	-0.570680481869758	0.20259	1.090669	0.988096105615833	0.31417	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.63	3.69	0.41483	1.262000	0.32594	4.419000	0.43309	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.2761:0.0:0.7239:0.0	9.067	0.35628	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3095.98	225	chr14	63599647	.	G	A	3095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.655;DP=3035;ExcessHet=0.0000;FS=0.973;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=-3.670e-01;SOR=0.789	GT:AD:DP:GQ:PL	0/1:132,117:249:99:3110,0,3538	20	0	1	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	0/1:106,34:140:20:.:.:20,0,2248	6	0	14	1
chr14	64587239	64587239	C	T	exonic	PPP1R36	.	nonsynonymous SNV	PPP1R36:NM_172365:exon10:c.C757T:p.R253C,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.905	M	0.26	T	-0.040	T	0.439	T	0.934	4.301	22.5	5.55	2.596	4.000	15.028	0.695	0.0539248401392	7.7e-05	.	4.952e-05	0	0	0	0	1.501e-05	0	0.0003	3.88e-05	6	154602	rs140512732	2.943e-05	2.941e-05	2.043e-05	3.852e-05	0.0003	2.218e-05	1.971e-05	0.0002	0.0002	0	0	0	0	0	0	1.44e-05	1.657e-05	0.0003	2.631e-05	2.627e-05	2.571e-05	2.693e-05	0.0002	8.15e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000007	0.62929	D	0.000000	0.99997	0.53665	D	2.615	0.76484	M	0.26	0.59314	T	-7.21	0.94249	D	0.799	0.79503	-0.0404	0.81409	T	0.439	0.77765	T	10	0.89333653	0.88682	D	0.053925	0.65659	D	0.695	0.88960	.	.	0.83764334984	0.83609	0.726232055205984	0.72567	0.709958406355	0.61660	0.609612286091	0.54261	T	0.209185	0.56932	T	0.0992454	0.64211	D	0.200975	0.83181	D	0.957026839256287	0.64905	D	0.884012	0.60664	D	0.75785553	0.81327	0.7433903	0.84832	0.75785553	0.81328	0.7433903	0.84833	-4.719	0.33634	T	.	.	0.275	0.50880	B	.	.	5.760602	0.93427	33	0.99937634450801893	0.99661	0.84212	0.43295	D	AEFGBI	0.712016	0.66527	D	0.830034473052495	0.87943	9.396693	0.779429954512747	0.88330	9.541344	0.99874431342463	0.37581	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.55	5.55	0.83298	3.890000	0.55932	7.660000	0.64180	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.028	0.71349	436	0.80373	.	.	.	.	.	.	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	917.98	34	chr14	64587239	.	C	T	917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-4.060e-01;SOR=0.592	GT:AD:DP:GQ:PL	0/1:36,36:72:99:932,0,844	20	0	1	0
chr14	67805304	67805304	C	A	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon8:c.G1184T:p.G395V,	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	.	0	1466	55	1	0	57	0.0190699	0	0	186196	Hereditary_spastic_paraplegia|not_specified|Spastic_paraplegia|Hereditary_spastic_paraplegia_15|not_provided|ZFYVE26-related_disorder	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.045	B	0.122	B	0.009	N	1.000	D	0	N	1.86	T	-1.073	T	0.038	T	0.235	1.553	11.15	4.75	1.039	1.476	10.034	0.055	0.0153934194612	0.0027	0.00319489	0.0037	0.0008	0.0018	0	0.0008	0.0039	0.0045	0.0088	0.0035769	553	154602	rs35512910	0.0035	0.0035	0.0032	0.0037	0.0170	0.0034	0.0033	0.0143	0.0133	0.0006	0.0022	0.0018	0	0.0005	0.0170	0.0033	0.0045	0.0090	0.0027	0.0027	0.0026	0.0028	0.0071	0.0025	0.0024	0.0052	0.0046	0.0007	0	0.0045	0.0012	0	0	0.0034	0.0039	0.0066	0.0071	0.222	0.22746	T	0.011	0.64786	D	0.045	0.21781	B	0.122	0.32387	B	0.009491	0.30337	N	0.362779	0.959685	0.38140	D	.	.	.	1.86	0.26588	T	-0.13	0.08971	N	0.165	0.32148	-1.0731	0.08745	T	0.038	0.16505	T	10	0.0025664866	0.00039	T	0.015393	0.36094	T	0.055	0.15663	.	.	0.227934060464	0.22382	0.16169291788472615	0.16090	0.205046829069	0.22922	0.395783305168	0.24482	T	0.007186	0.06605	T	-0.545574	0.00310	T	-0.550483	0.17280	T	0.00825396560210703	0.00099	T	0.391661	0.09743	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15385	B	.;.	.;.	1.940681	0.24650	16.47	0.93319764922611348	0.23040	0.90446	0.51628	D	AEFGBI	0.377002	0.46094	N	-0.506721545602045	0.21862	1.163319	-0.299626435153439	0.28111	1.564814	0.928976482814212	0.26950	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	4.75	0.59954	1.480000	0.35072	4.234000	0.42669	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.1357:0.0:0.8643	10.034	0.41291	182	0.92924	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1193.98	34	chr14	67805304	.	C	A	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.169;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-3.390e-01;SOR=0.686	GT:AD:DP:GQ:PL	0/1:62,49:111:99:1208,0,1606	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	1/1:0,16,0:16:48:707,48,0,707,48,707	0	19	0	0
chr14	75437912	75437912	C	A	exonic	JDP2	.	nonsynonymous SNV	JDP2:NM_001135049:exon2:c.C25A:p.P9T,	.	.	421	1072	27	2	0	31	0.0142529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	.	.	.	.	.	.	0.961	D	.	.	0.38	T	-0.928	T	0.151	T	0.163	1.712	11.69	2.54	0.620	0.660	3.855	0.017	.	.	0.00958466	0.0091	0.0051	0.0035	0.0002	0.0125	0.0053	0.0047	0.0309	0.0047218	730	154602	rs201898432	0.0037	0.0038	0.0030	0.0044	0.0233	0.0036	0.0036	0.0224	0.0221	0.0045	0.0032	0.0025	0.0004	0.0084	0.0163	0.0020	0.0046	0.0233	0.0040	0.0040	0.0032	0.0047	0.0249	0.0037	0.0036	0.0213	0.0199	0.0033	0	0.0033	0.0035	0.0004	0.0093	0.0238	0.0024	0.0066	0.0249	0.012	0.54683	D	0.255	0.23365	T	.	.	.	.	.	.	.	.	.	.	0.961317	0.38228	D	.	.	.	0.38	0.57575	T	-1.27	0.31981	N	0.31	0.34981	-0.9281	0.44415	T	0.151	0.47979	T	6	0.004762739	0.00101	T	.	.	.	0.017	0.02790	.	.	0.287411543184	0.28351	0.2138663685806908	0.21302	0.52088637353	0.49874	0.456815749407	0.32874	T	.	.	.	-0.462336	0.00951	T	-0.41997	0.31078	T	0.00653995972438719	0.00073	T	0.577142	0.20757	T	.	.	.	.	.	.	.	.	-2.305	0.04582	T	.	.	0.072	0.04159	B	.	.	1.373561	0.17843	13.40	0.93609651566356189	0.23472	0.55884	0.29976	D	AEFDBI	0.149238	0.27330	N	-0.143449413581287	0.35515	2.040863	-0.164533032682119	0.32852	1.87325	0.999828912313114	0.43622	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.46	2.54	0.29674	0.672000	0.24868	0.902000	0.22558	0.599000	0.40250	0.251000	0.24859	0.511000	0.25257	0.745000	0.35611	0.0:0.4034:0.1787:0.4178	3.855	0.08479	274	0.89249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1032.11	30	chr14	75437912	.	C	A	1032.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.333;DP=657;ExcessHet=0.1072;FS=4.599;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=17.20;ReadPosRankSum=-2.250e-01;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,21:33:99:0|1:75437911_T_C:820,0,441:75437911	19	0	2	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	0/1:117,45:174:94:94,0,2057	5	0	16	0
chr14	88469531	88469531	T	G	exonic	PTPN21	.	nonsynonymous SNV	PTPN21:NM_007039:exon17:c.A3203C:p.H1068P,	.	.	325	1191	6	0	0	6	0.00251256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.997	D	0.000	D	1.000	D	3.925	H	2.36	T	-0.402	T	0.208	T	0.946	4.635	25.4	5.68	2.170	8.027	15.925	0.649	0.0262657583667	0.0002	0.000199681	0.0003	0	0	0	0	0.0004	0	0.0002	0.0003105	48	154602	rs201610603	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	8.961e-05	4.472e-05	0	0	1.872e-05	0.0002	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	0.0001	0	0	0	0	0	0	0.0005	0.0005	0.0004	0.01	0.78490	D	0.004	0.74150	D	0.995	0.67487	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	2.62	0.76659	M	2.36	0.16089	T	-6.21	0.96166	D	0.881	0.87917	-0.4016	0.71976	T	0.208	0.56744	T	10	0.6542381	0.69780	D	0.026266	0.49189	D	0.649	0.86736	.	.	0.731225680256	0.72883	.	.	1.31115989583	0.83227	0.709154486656	0.68471	T	0.641023	0.88992	D	-0.0104207	0.50207	T	0.105836	0.77296	D	0.54001647233963	0.34104	D	0.940606	0.90119	D	0.951381	0.96406	0.9142074	0.95987	0.951381	0.96407	0.9142074	0.95988	-15.106	0.96095	D	.	.	0.431	0.65430	A	.;.;.	.;.;.	4.996804	0.82880	27.9	0.98373736511344567	0.40781	0.98821	0.87296	D	AEFDBI	0.961806	0.98318	D	0.981067423692302	0.95133	13.33813	0.897394452104336	0.95458	13.64106	0.999999999995112	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	8.004000	0.88060	7.871000	0.71963	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.0:0.0:1.0	15.925	0.79395	651	0.62880	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1873.98	39	chr14	88469531	.	T	G	1873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.287;DP=845;ExcessHet=0.0000;FS=0.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.62;ReadPosRankSum=-3.990e-01;SOR=0.612	GT:AD:DP:GQ:PL	0/1:53,67:120:99:1888,0,1487	20	0	1	0
chr14	88618733	88618733	-	G	exonic	EML5	.	frameshift insertion	EML5:NM_001385116:exon39:c.5445dupC:p.T1816Hfs*3	.	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	755.94	33	chr14	88618733	.	T	TG	755.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.816;DP=791;ExcessHet=0.0000;FS=5.519;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.04;ReadPosRankSum=-2.078e+00;SOR=1.322	GT:AD:DP:GQ:PL	0/1:60,34:94:99:770,0,1636	20	0	1	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|4:44,0,0,0,42,0,0:86:99:0|1:92071009_C_CG:1465,1600,3298,1600,3298,3298,1600,3298,3298,3298,0,1698,1698,1698,1572,1600,3298,3298,3298,1698,3298,1600,3298,3298,3298,1698,3298,3298:92071009	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	0/1:93,78:171:99:.:.:1231,0,1553	0	0	21	0
chr14	101561562	101561562	G	T	exonic	DIO3	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	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	1195.98	34	chr14	101561562	.	G	T	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.441;DP=796;ExcessHet=0.0000;FS=3.192;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=0.196;SOR=1.146	GT:AD:DP:GQ:PL	0/1:39,44:83:99:1210,0,999	20	0	1	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	106384.42	204	chr14	104946204	.	C	T,*	106384.42	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-9.490e-01;DP=5401;ExcessHet=6.1794;FS=4.082;InbreedingCoeff=-0.2857;MLEAC=27,1;MLEAF=0.643,0.024;MQ=52.30;MQRankSum=-1.434e+01;QD=21.17;ReadPosRankSum=-1.256e+00;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,121,0:312:99:0|1:104946204_C_T:4443,0,7639,5018,8002,13020:104946204	1	7	12	0
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|1:50,6,0:56:99:0|1:20534634_CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT_C:132,0,2003,282,2050,2332:20534634	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|1:50,6,0:56:99:0|1:20534634_CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT_C:132,0,2003,282,2050,2332:20534634	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|2:50,0,6:56:99:0|1:20534634_CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT_C:132,282,2332,0,2050,2003:20534634	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|1:50,6,0:56:99:0|1:20534634_CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT_C:132,0,2003,282,2050,2332:20534634	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|1:50,6,0:56:99:0|1:20534634_CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT_C:132,0,2003,282,2050,2332:20534634	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|2:50,0,6:56:99:0|1:20534634_CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT_C:132,282,2332,0,2050,2003:20534634	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|2:50,0,6:56:99:0|1:20534634_CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT_C:132,282,2332,0,2050,2003:20534634	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|1:50,6,0:56:99:0|1:20534634_CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT_C:132,0,2003,282,2050,2332:20534634	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|1:50,6,0:56:99:0|1:20534634_CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT_C:132,0,2003,282,2050,2332:20534634	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|1:50,6,0:56:99:0|1:20534634_CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT_C:132,0,2003,282,2050,2332:20534634	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|2:50,0,6:56:99:0|1:20534634_CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT_C:132,282,2332,0,2050,2003:20534634	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|1:50,6,0:56:99:0|1:20534634_CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT_C:132,0,2003,282,2050,2332:20534634	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|2:50,0,6:56:99:0|1:20534634_CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT_C:132,282,2332,0,2050,2003:20534634	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|2:50,0,6:56:99:0|1:20534634_CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT_C:132,282,2332,0,2050,2003:20534634	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|2:50,0,6:56:99:0|1:20534634_CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT_C:132,282,2332,0,2050,2003:20534634	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|2:13,6,17:36:99:1|0:20534634_CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT_C:633,445,1174,0,311,494:20534634	5	0	10	2
chr15	20535566	20535566	T	G	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.A868C:p.M290L,	.	.	717	801	3	1	0	5	0.00311139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.006	B	0.013	B	.	.	1.000	N	-1.2	N	3.38	T	-0.902	T	0.006	T	0.162	-0.079	3.612	.	0.138	0.031	.	0.017	0.00276783507213	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283446308	0.0067	0.0077	0.0070	0.0065	0.0075	0.0065	0.0064	0.0073	0.0072	0.0012	0.0027	0.0103	0.0003	0.0161	0.0032	0.0075	0.0071	0.0029	0.0055	0.0072	0.0049	0.0062	0.0071	0.0051	0.0050	0.0065	0.0063	0.0014	0	0.0032	0.0099	0.0007	0.0156	0	0.0071	0.0042	0.0025	.	.	.	0.776	0.04387	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.131	0.12627	-0.9024	0.47739	T	0.006	0.01870	T	7	0.059972256	0.07292	T	0.002768	0.05752	T	.	.	.	.	0.0138822411134	0.00435	0.002622390550778858	0.00243	.	.	0.604738354683	0.53573	T	0.00539	0.04841	T	-0.257914	0.13145	T	-0.608252	0.12128	T	0.0178337748839643	0.00511	T	0.452355	0.12822	T	0.16286546	0.36390	0.27117288	0.53015	0.16286546	0.36390	0.27117288	0.53014	-6.484	0.50163	T	.	.	0.148	0.32709	B	.	.	0.080666	0.04866	1.458	0.48054578006326931	0.03979	0.00041	0.00340	N	AEFI	0.015313	0.00286	N	-1.35286778156856	0.03095	0.1377298	-1.35194689727277	0.03783	0.177173	1.16283787847553E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-2.991000	0.00721	0.501000	0.18995	-1.844000	0.00578	0.000000	0.06391	0.031000	0.21272	0.003000	0.05239	.	.	.	1000	0.00083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	34.98	17	chr15	20535566	.	T	G	34.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.484;DP=407;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=24.92;MQRankSum=-1.162e+00;QD=1.52;ReadPosRankSum=0.731;SOR=0.061	GT:AD:DP:GQ:PL	0/1:19,4:23:49:49,0,495	20	0	1	0
chr15	21652117	21652117	A	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.A234C:p.L78F,	.	.	465	768	265	24	0	313	0.169281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.738e-06	0.0002	4.777e-06	8.48e-06	8.749e-05	1.79e-06	5e-07	.	.	8.749e-05	0	7.657e-05	0	0	0	3.89e-06	0	0	8.705e-06	0.0001	0	1.8e-05	3.488e-05	0	0	.	.	3.488e-05	0	0	0	0	0	0	0	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000108	0.50451	N	0.000000	0.99988	0.19925	P	.	.	.	.	.	.	.	.	.	0.182	0.19728	-1.0434	0.16294	T	0.000	0.00011	T	9	0.0018065572	0.00024	T	.	.	.	.	.	0.381	0.39807	.	.	0.040043207446890695	0.03950	.	.	0.311506986618	0.12134	T	.	.	.	-0.674746	0.00051	T	-0.598182	0.12964	T	0.00326191471079691	0.00034	T	0.287271	0.05164	T	.	.	.	.	.	.	.	.	-0.124	0.00396	T	.	.	0.073	0.04599	B	.;.	.;.	0.850845	0.12232	8.774	0.66924304402247636	0.08201	0.00687	0.02939	N	AEI	.	.	.	-1.62473285776486	0.01146	0.04979641	-1.44264627457213	0.02837	0.1312614	5.3174549639366E-4	0.07248	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.24	2.28	0.27583	-1.083000	0.03507	-0.079000	0.12201	-0.781000	0.03322	0.002000	0.15269	0.160000	0.23254	0.175000	0.21139	0.3717:0.6283:0.0:0.0	9.685	0.39261	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	7981.03	35	chr15	21652117	.	A	C	7981.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=1.67;DP=1245;ExcessHet=1.7912;FS=1.131;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=28.20;MQRankSum=-5.080e-01;QD=11.27;ReadPosRankSum=0.254;SOR=0.597	GT:AD:DP:GQ:PL	0/1:119,56:175:99:1092,0,2887	15	0	6	0
chr15	21652190	21652190	C	T	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C307T:p.L103F,	.	.	442	748	311	21	0	353	0.190914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.129e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.389e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.283	0.21478	T	.	.	.	.	.	.	0.261126	0.15312	N	0.485335	0.999366	0.21303	P	.	.	.	.	.	.	.	.	.	0.103	0.08646	-0.9711	0.36967	T	0.000	0.00011	T	9	0.0015220642	0.00017	T	.	.	.	.	.	.	.	.	.	0.030007910357616414	0.02949	.	.	0.290178626776	0.08949	T	.	.	.	-0.66378	0.00060	T	-0.582431	0.14328	T	0.000522953042824942	0.00004	T	0.540346	0.18307	T	.	.	.	.	.	.	.	.	-5.352	0.40455	T	.	.	0.093	0.14062	B	.;.	.;.	1.025571	0.14055	10.62	0.93500601886041435	0.23307	0.07624	0.13632	N	AEFCI	.	.	.	-0.844437362999696	0.12186	0.5925257	-0.887036193530605	0.12400	0.6376486	3.35547801273524E-4	0.06583	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	0.085	0.13749	-0.579000	0.05927	-1.581000	0.05125	0.268000	0.18485	0.000000	0.06391	0.000000	0.08366	0.409000	0.26983	0.0:0.3722:0.2141:0.4137	3.269	0.06470	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	13026.03	35	chr15	21652190	.	C	T	13026.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=4.04;DP=1982;ExcessHet=1.7912;FS=3.181;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.24;MQRankSum=-2.000e-03;QD=11.47;ReadPosRankSum=0.342;SOR=0.777	GT:AD:DP:GQ:PL	0/1:154,72:226:99:1491,0,4003	15	0	6	0
chr15	21652283	21652283	G	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.G400C:p.V134L,	.	.	444	742	317	19	0	355	0.19304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277263862	0.0001	0.0001	8.806e-05	0.0001	0.0006	8.456e-05	7.79e-05	0.0003	0.0002	0.0006	0.0002	0	0	0	0	9.504e-05	0.0002	9.725e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0008	0	0.0003	0	0	0	0	6.04e-05	0.0020	0	.	.	.	0.136	0.34009	T	.	.	.	.	.	.	0.000469	0.44119	D	0.000000	1	0.08975	P	.	.	.	.	.	.	.	.	.	0.218	0.24385	-0.8916	0.48793	T	0.000	0.00011	T	9	0.001629144	0.00019	T	.	.	.	.	.	0.312	0.28612	.	.	0.07580462846120836	0.07516	.	.	0.250244468451	0.03793	T	.	.	.	-0.532543	0.00371	T	-0.393918	0.34092	T	0.031530545555236	0.02231	T	0.857714	0.54741	D	.	.	.	.	.	.	.	.	-5.754	0.44172	T	.	.	0.162	0.35767	B	.;.	.;.	2.487917	0.32091	18.94	0.99194466592430841	0.55083	0.14978	0.18683	N	AEFHCI	.	.	.	-0.187369143140256	0.33660	1.91217	-0.318033235840288	0.27516	1.527408	0.00464552456930878	0.10654	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	2.26	0.27418	2.575000	0.45689	1.571000	0.27417	0.299000	0.18918	0.133000	0.23395	0.004000	0.18990	0.984000	0.60418	0.2721:0.0:0.7279:0.0	5.367	0.15423	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	18653.03	35	chr15	21652283	.	G	C	18653.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.441;DP=1829;ExcessHet=1.7912;FS=3.282;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.90;MQRankSum=-5.490e-01;QD=18.62;ReadPosRankSum=0.182;SOR=0.487	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,53:173:99:0|1:21652283_G_C:1810,0,4840:21652283	15	0	6	0
chr15	21652290	21652290	C	A	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C407A:p.A136D,	.	.	445	758	303	16	0	335	0.180983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325108497	7.359e-05	0.0001	5.407e-05	9.171e-05	0.0002	5.914e-05	5.388e-05	9.719e-05	7.073e-05	4.42e-05	0.0002	0	0	0	0	7.582e-05	0.0001	6.801e-05	8.658e-05	0.0002	7.449e-05	9.95e-05	0.0003	4.464e-05	3.34e-05	7.618e-05	4.051e-05	7.641e-05	0	0.0003	0	0	0	0	2.089e-05	0.0021	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000167	0.48594	D	0.000000	0.0199557	0.39625	P	.	.	.	.	.	.	.	.	.	0.631	0.64478	-0.9692	0.37366	T	0.000	0.00114	T	9	0.002110511	0.00030	T	.	.	.	.	.	.	.	.	.	0.4398908667552438	0.43906	.	.	0.395352125168	0.24421	T	.	.	.	-0.179371	0.23830	T	0.113389	0.77796	D	0.0805372903841944	0.10055	T	0.976052	0.91638	D	.	.	.	.	.	.	.	.	-13.572	0.91582	D	.	.	0.411	0.60193	A	.;.	.;.	4.705929	0.75548	26.4	0.99729135027837246	0.82619	0.93345	0.57969	D	AEFHCI	.	.	.	0.668177313905204	0.77549	6.696248	0.481736136598001	0.66782	4.996887	0.99991764154766	0.45857	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	3.2	0.35826	4.696000	0.61460	5.281000	0.48180	0.268000	0.18485	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	12.276	0.54051	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	18491.03	35	chr15	21652290	.	C	A	18491.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-6.300e-01;DP=1815;ExcessHet=1.7912;FS=3.262;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.87;MQRankSum=-4.920e-01;QD=18.57;ReadPosRankSum=0.519;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,52:172:99:0|1:21652283_G_C:1777,0,4835:21652283	15	0	6	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L,	.	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	P	-3.045	N	8.91	T	-0.972	T	0.000	T	0.111	-2.796	0	0.487	-0.314	-1.168	6.210	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.875	49876.32	41	chr15	22081297	.	T	C	49876.32	.	AC=35;AF=0.875;AN=40;BaseQRankSum=9.54;DP=2745;ExcessHet=0.0454;FS=83.218;InbreedingCoeff=0.3143;MLEAC=36;MLEAF=0.900;MQ=39.56;MQRankSum=-1.124e+01;QD=20.13;ReadPosRankSum=0.928;SOR=4.411	GT:AD:DP:GQ:PL	1/1:0,137:137:99:4539,412,0	1	16	3	1
chr15	22573085	22573085	G	A	exonic	HERC2	.	unknown	UNKNOWN,	Mental retardation, autosomal recessive 38, Autosomal recessive	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749521198	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	3.829e-05	0.0001	9.363e-05	0.0002	0.0002	0.0002	1.161e-05	8.541e-05	9.192e-05	0.0001	6.723e-05	0.0001	4.957e-05	3.962e-05	6.284e-05	4.3e-05	0.0001	0	0	0	0	0	0	8.82e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1962.98	37	chr15	22573085	.	G	A	1962.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.854;DP=1883;ExcessHet=0.0000;FS=0.703;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.13;MQRankSum=5.40;QD=16.22;ReadPosRankSum=0.220;SOR=0.794	GT:AD:DP:GQ:PL	0/1:45,76:121:99:1977,0,965	20	0	1	0
chr15	22769367	22769367	T	C	exonic	GOLGA6L7	.	unknown	UNKNOWN,	.	.	777	727	2	7	9	25	0.0108844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327727541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.0066	0.0062	0.0062	0.0150	0.0057	0.0056	0.0135	0.0130	0.0150	0.0021	0.0058	0.0068	0.0008	0.0008	0	0.0028	0.0050	0.0150	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	174.63	3	chr15	22769367	.	T	C,*	174.63	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-9.670e-01;DP=125;ExcessHet=0.0107;FS=1.882;InbreedingCoeff=0.2868;MLEAC=2,5;MLEAF=0.056,0.139;MQ=57.17;MQRankSum=1.28;QD=6.47;ReadPosRankSum=1.01;SOR=0.780	GT:AD:DP:GQ:PL	0/2:2,0,5:7:68:146,152,236,0,84,68	13	0	2	3
chr15	22769367	22769367	T	0	exonic	GOLGA6L7	.	.	.	.	.	777	727	2	7	9	25	0.0108844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	174.63	3	chr15	22769367	.	T	C,*	174.63	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-9.670e-01;DP=125;ExcessHet=0.0107;FS=1.882;InbreedingCoeff=0.2868;MLEAC=2,5;MLEAF=0.056,0.139;MQ=57.17;MQRankSum=1.28;QD=6.47;ReadPosRankSum=1.01;SOR=0.780	GT:AD:DP:GQ:PL	0/2:2,0,5:7:68:146,152,236,0,84,68	13	0	2	3
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	1/2:1,105,93:199:99:.:.:7295,3133,3636,4309,0,4033	0	0	2	0
chr15	28842324	28842324	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G1780A:p.A594T,	.	.	734	778	8	2	0	12	0.00765306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00499201	.	.	.	.	.	.	.	.	0.0068388	178	26028	rs138481228	0.0095	0.0079	0.0095	0.0095	0.0102	0.0094	0.0093	0.0100	0.0100	0.0013	0.0031	0.0065	0	0.0078	0.0096	0.0102	0.0085	0.0083	0.0059	0.0059	0.0060	0.0058	0.0092	0.0056	0.0054	0.0086	0.0084	0.0013	0	0.0046	0.0081	0	0.0062	0.0102	0.0092	0.0047	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006117761	0.00138	T	.	.	.	.	.	.	.	.	.	0.004366120247626335	0.00410	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306369	0.05889	T	0.026401768	0.01693	0.1082772	0.26080	0.026401768	0.01693	0.1082772	0.26079	-3.038	0.10596	T	.	.	0.089	0.12228	B	.	.	-0.198033	0.03100	0.490	0.77294282673265802	0.11816	0.00108	0.00689	N	AEFDI	.	.	.	.	.	.	.	.	.	2.59472011197163E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0476782	0.07194	1.07	-2.14	0.06725	-0.591000	0.05848	-5.039000	0.01875	0.111000	0.17629	0.009000	0.18154	0.000000	0.08366	0.052000	0.15357	0.0:0.6008:0.3992:0.0	6.425	0.20967	946	0.12043	.	GOLGA6L7P	Artery_Aorta	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	119.16	7	chr15	28842324	.	C	T	119.16	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.30;DP=211;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0522;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=6.27;ReadPosRankSum=-7.920e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/1:8,4:12:99:113,0,209	19	0	2	0
chr15	30522714	30522714	G	T	exonic	LOC100996413	.	nonsynonymous SNV	LOC100996413:NM_001365376:exon2:c.C329A:p.A110E,	.	.	1303	218	0	1	0	2	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1342138821	1.807e-05	5.242e-05	1.124e-05	2.594e-05	0.0020	8.5e-06	6.15e-06	0.0004	0.0002	0.0002	0	0	0	0	0.0020	1.095e-05	6.005e-05	0	2.969e-05	2.155e-05	3.879e-05	2.021e-05	5.958e-05	7.89e-06	4.19e-06	1.58e-05	8.38e-06	0	0	0	0	0	0	0	5.958e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	33.83	3	chr15	30522714	.	G	T	33.83	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-9.670e-01;DP=26;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1241;MLEAC=2;MLEAF=0.091;MQ=27.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=0.00;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:23:40,0,23	10	0	1	10
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	1/2:0,47,20:67:99:2247,520,427,1389,0,1207	0	10	0	0
chr15	32393517	32393517	-	TTC	exonic	GOLGA8K;GOLGA8T	.	nonframeshift insertion	GOLGA8K:NM_001282493:exon16:c.1418_1419insGAA:p.K474_E475insK,	.	.	298	1217	3	4	0	11	0.00449898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333443264	0.0005	0.0023	0.0004	0.0005	0.0019	0.0004	0.0004	0.0014	0.0013	0.0007	0.0011	0.0002	0.0019	0.0010	0.0005	0.0003	0.0005	0.0015	3.488e-05	0.0003	2.232e-05	4.854e-05	6.628e-05	9.26e-06	4.57e-06	1.758e-05	8.87e-06	0	0	0	0	0	0	0	6.628e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	70.29	38	chr15	32393517	.	T	TTTC	70.29	.	AC=2;AF=0.048;AN=42;DP=672;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8834;MLEAC=1;MLEAF=0.024;MQ=25.27;QD=26.46;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	20	1	0	0
chr15	38500115	38500115	A	G	exonic	RASGRP1	.	nonsynonymous SNV	RASGRP1:NM_001128602:exon13:c.T1603C:p.Y535H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.195	M	-3.19	D	1.048	D	0.911	D	0.878	4.599	25.1	5.17	2.159	9.074	15.171	0.954	0.472216980368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.335	0.90898	M	-3.19	0.93170	D	-3.7	0.71397	D	0.79	0.78737	1.048	0.98077	D	0.911	0.97046	D	10	0.94652414	0.93978	D	0.472217	0.94699	D	0.954	0.99189	0.814	0.92925	0.76893090584	0.76681	0.8949520427856126	0.89466	1.45096608777	0.86159	0.8647108078	0.91803	D	0.919258	0.98542	D	0.488167	0.93951	D	0.463441	0.93874	D	0.99911230802536	0.96225	D	0.968803	0.90870	D	0.79220897	0.83411	0.7702565	0.86435	0.79220897	0.83413	0.7702565	0.86436	-11.351	0.82946	D	0.7104111486980798	0.79055	0.944	0.89954	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.835860	0.78898	27.0	0.99815023470405906	0.89885	0.98054	0.79209	D	AEFBCI	0.874251	0.79703	D	0.928067284315591	0.93065	11.79978	0.859107522753969	0.93536	12.109	0.999999999970097	0.74766	0.460665	0.09802	0	0.577304	0.33150	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	5.17	5.17	0.70848	9.302000	0.95261	3.938000	0.40583	0.756000	0.94297	1.000000	0.71638	0.996000	0.32793	0.995000	0.73285	1.0:0.0:0.0:0.0	15.171	0.72551	840	0.37365	Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Diacylglycerol/phorbol-ester binding|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|Diacylglycerol/phorbol-ester binding|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|Diacylglycerol/phorbol-ester binding|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|Diacylglycerol/phorbol-ester binding|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;.;.;.	.	.	.	.	.	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	2579.98	34	chr15	38500115	.	A	G	2579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.745;DP=955;ExcessHet=0.0000;FS=0.991;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=-1.085e+00;SOR=0.609	GT:AD:DP:GQ:PL	0/1:128,112:240:99:2594,0,3048	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	0/2:58,0,23:81:99:.:.:572,747,3020,0,2274,2201	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	0/2:58,0,23:81:99:.:.:572,747,3020,0,2274,2201	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	0/2:58,0,23:81:99:.:.:572,747,3020,0,2274,2201	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	0/2:58,0,23:81:99:.:.:572,747,3020,0,2274,2201	10	1	4	4
chr15	41823501	41823501	A	G	exonic	MAPKBP1	.	nonsynonymous SNV	MAPKBP1:NM_014994:exon29:c.A3653G:p.E1218G	Nephronophthisis 20, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.001	B	0.004	B	0.381	N	1.000	N	0.805	L	1.3	T	-1.040	T	0.064	T	0.081	3.423	17.57	3.06	0.932	2.515	6.044	0.057	0.0114463835235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.14064	T	0.275	0.22016	T	0.001	0.07471	B	0.0	0.01387	B	0.380790	0.13392	N	0.735360	0.999887	0.50402	D	1.1	0.28011	L	1.14	0.38397	T	-0.74	0.20791	N	0.182	0.19728	-1.0401	0.17283	T	0.064	0.26456	T	10	0.0879035	0.15086	T	0.011446	0.29087	T	0.057	0.16321	0.211	0.12923	0.0675242888579	0.06100	0.3021631981608067	0.30129	0.0693150109517	0.07761	0.441450595856	0.30776	T	0.006999	0.06422	T	-0.255191	0.13469	T	-0.604341	0.12449	T	0.0839394678263173	0.10484	T	0.59944	0.22338	T	0.047109675	0.07998	0.0362119	0.03024	0.047109675	0.07997	0.0362119	0.03024	-2.306	0.04588	T	.	.	0.089	0.12228	B	.;.	.;.	2.041770	0.25950	16.95	0.99597600979618583	0.73983	0.87048	0.46473	D	AEFGBHCI	0.173759	0.30086	N	-0.627257661738905	0.18129	0.9387149	-0.5475626871233	0.20871	1.126439	0.941621661817123	0.27485	0.743674	0.98306	0	0.724815	0.89359	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.5	3.06	0.34374	1.581000	0.36167	4.452000	0.43426	0.689000	0.82905	0.476000	0.26769	0.999000	0.35428	0.021000	0.11733	0.751:0.1638:0.0851:0.0	6.044	0.18976	218	0.91525	.;.	.	.	.	.	.	Uncertain significance	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	2769.98	34	chr15	41823501	.	A	G	2769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.781e+00;DP=950;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-1.031e+00;SOR=0.733	GT:AD:DP:GQ:PL	0/1:100,105:205:99:2784,0,2652	20	0	1	0
chr15	41851129	41851129	G	C	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon65:c.C10765G:p.L3589V,	.	.	393	1126	3	0	0	3	0.00133038	.	.	3478118	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.941	P	0.531	P	0.169	N	1.000	N	0.98	L	1.55	T	-1.072	T	0.062	T	0.142	2.368	13.88	2.29	0.523	-0.310	6.390	0.045	0.00852296438686	0.0002	0.000998403	0.0005	0.0001	0.0003	0	0	0.0008	0	0.0001	0.0004786	74	154602	rs149420099	0.0004	0.0004	0.0004	0.0004	0.0040	0.0004	0.0004	0.0027	0.0023	0.0001	0.0004	7.658e-05	0	0	0.0040	0.0005	0.0007	0.0001	0.0005	0.0005	0.0005	0.0004	0.0018	0.0004	0.0003	0.0013	0.0011	0.0002	0	0.0018	0.0003	0	0	0	0.0005	0.0009	0	0.027	0.46513	D	0.0	0.92824	D	0.941	0.52883	P	0.531	0.48577	P	0.168609	0.17442	N	0.449092	1	0.08975	N	1.27	0.32069	L	1.55	0.29866	T	-0.63	0.18459	N	0.241	0.27197	-1.0724	0.08894	T	0.062	0.25923	T	10	0.023934871	0.00642	T	0.008523	0.22532	T	0.045	0.12272	.	.	0.312001716656	0.30816	0.045485878313686154	0.04492	.	.	0.236076787114	0.02447	T	0.008646	0.07927	T	-0.51118	0.00494	T	-0.615673	0.11528	T	0.00910435805802616	0.00114	T	0.389261	0.09643	T	0.059058487	0.11956	0.06172671	0.11965	0.059058487	0.11956	0.06172671	0.11964	-4.68	0.33161	T	.	.	0.105	0.19154	B	.	.	0.305360	0.06806	3.331	0.98420853581464918	0.41288	0.10864	0.16245	N	AEFDBCI	0.065794	0.12852	N	-0.325362545650303	0.28187	1.552696	-0.448961226215469	0.23578	1.28656	0.999472089030329	0.39898	0.67177	0.52595	0	0.550933	0.16991	0	0.536957	0.11973	0	0.711	0.71501	0	.	.	4.22	2.29	0.27658	-0.104000	0.10893	-0.313000	0.10024	0.675000	0.71128	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	0.0961:0.0:0.7231:0.1808	6.390	0.20782	234	0.90879	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	1694.98	104	chr15	41851129	.	G	C	1694.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.760e-01;DP=2142;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.92;ReadPosRankSum=1.77;SOR=0.676	GT:AD:DP:GQ:PL	0/1:114,76:190:99:1709,0,2941	20	0	1	0
chr15	42284019	42284019	C	T	exonic	GANC	.	nonsynonymous SNV	GANC:NM_001301410:exon5:c.C827T:p.P276L,	.	.	426	1069	26	1	0	28	0.0129271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.003	B	.	.	1.000	N	.	.	1.45	T	-1.010	T	0.046	T	0.029	1.013	9.136	-1.1	-0.373	-1.152	3.498	0.010	.	.	0.000199681	0.0092	0	0	0	.	0.0004	0.0098	0.0128	0.0006015	93	154602	rs562954349	0.0014	0.0012	0.0006	0.0020	0.0106	0.0013	0.0013	0.0100	0.0097	6.328e-05	0	5.004e-05	0	0	0.0022	0.0002	0.0006	0.0106	0.0004	0.0004	0.0001	0.0006	0.0083	0.0003	0.0003	0.0063	0.0055	0	0	0	0	0	0	0	0.0002	0.0005	0.0083	0.0	0.91255	D	0.159	0.31527	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	1.45	0.32482	T	-0.13	0.08971	N	0.073	0.04668	-1.0097	0.27012	T	0.046	0.19879	T	8	0.0036540627	0.00067	T	.	.	.	0.010	0.01040	0.192	0.10304	0.0401082797425	0.02173	.	.	.	.	.	.	.	.	.	.	-0.68708	0.00044	T	-0.751757	0.03417	T	0.0203424757880692	0.00734	T	0.434357	0.11884	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.24833	B	.	.	-0.153246	0.03337	0.587	0.85463737390204331	0.15909	0.01979	0.05984	N	AEFBI	0.030165	0.02983	N	-1.09297683449539	0.06771	0.3126915	-1.17286806246445	0.06366	0.3062126	0.68454655080089	0.22518	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	3.37	-1.1	0.09367	-1.116000	0.03397	-1.266000	0.05865	-0.873000	0.02525	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0:0.4198:0.2:0.3802	3.498	0.07222	500	0.76024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	734.98	48	chr15	42284019	.	C	T	734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.663;DP=862;ExcessHet=0.0000;FS=2.677;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-7.030e-01;SOR=0.327	GT:AD:DP:GQ:PL	0/1:30,27:57:99:749,0,910	20	0	1	0
chr15	42450702	42450702	G	A	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_022473:exon2:c.C1501T:p.P501S	.	.	431	1088	2	1	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.006	N	1.000	N	-0.97	N	0.93	T	-0.992	T	0.030	T	0.083	-2.818	0	3.77	1.014	1.984	8.320	0.081	0.00252812355607	.	.	4.942e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs772280487	2.805e-05	2.805e-05	1.497e-05	4.125e-05	0.0003	2.086e-05	1.878e-05	0.0002	0.0002	0	0	0	0	0	0.0002	9.892e-06	3.311e-05	0.0003	2.627e-05	2.625e-05	1.285e-05	4.03e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	1.0	0.00964	T	0.993	0.06643	T	0.0	0.02946	B	0.0	0.01387	B	0.005676	0.32605	N	0.332965	1	0.19072	N	-1.21	0.00826	N	0.93	0.44065	T	1.59	0.00660	N	0.079	0.05414	-0.9919	0.32115	T	0.030	0.13067	T	10	0.01676336	0.00355	T	0.002528	0.05065	T	0.081	0.23632	0.128	0.03331	0.15556083564	0.15200	0.012600551618064877	0.01219	0.147531656826	0.16648	0.253764390945	0.04175	T	0.005082	0.04516	T	-0.509254	0.00507	T	-0.658766	0.08350	T	0.0166805381666185	0.00426	T	0.634936	0.24909	T	0.02202507	0.00839	0.033353902	0.02216	0.02202507	0.00838	0.033353902	0.02216	-2.134	0.03732	T	.	.	0.061	0.02797	B	.;.;.	.;.;.	0.319650	0.06943	3.488	0.15729096668282808	0.00395	0.03391	0.08501	N	AEFBI	0.026805	0.02075	N	-1.09010433020006	0.06824	0.3152605	-0.895571509010407	0.12198	0.6260898	0.999907752888306	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.99	3.77	0.42499	2.208000	0.42436	3.358000	0.37837	-0.112000	0.15009	0.993000	0.37899	0.987000	0.30940	0.687000	0.33748	0.7733:0.0:0.2267:0.0	8.320	0.31287	102	0.95784	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2320.98	37	chr15	42450702	.	G	A	2320.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=997;ExcessHet=0.0000;FS=0.517;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=0.143;SOR=0.709	GT:AD:DP:GQ:PL	0/1:120,86:206:99:2335,0,3333	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	1/1:2,533,0:535:99:.:.:15031,1477,0,15036,1506,15065	9	2	9	0
chr15	43021291	43021291	A	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon27:c.T2924C:p.I975T,	Johanson-Blizzard syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.975	D	0.616	P	0.000	D	1.000	D	2.05	M	0.39	T	-0.578	T	0.227	T	0.77	3.235	16.85	4.83	2.163	8.292	14.856	0.352	0.0568671016026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287101894	1.386e-06	1.508e-05	0	2.783e-06	2.329e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.329e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.877	0.48223	P	0.335	0.42239	B	0.000088	0.51296	D	0.168957	0.999825	0.81001	D	1.87	0.49600	L	0.39	0.57419	T	-3.24	0.65171	D	0.897	0.90251	-0.5780	0.65696	T	0.227	0.59208	T	10	0.901292	0.89490	D	0.056867	0.66759	D	0.352	0.67326	0.75	0.88071	0.700849342337	0.69825	0.45486979996443216	0.45404	0.331662542844	0.35236	0.694372951984	0.66333	T	0.758848	0.93451	D	0.0949073	0.63738	D	-0.00459463	0.70038	D	0.908208012580872	0.56272	D	0.962104	0.85685	D	0.3664358	0.58321	0.44078487	0.67385	0.3664358	0.58321	0.44078487	0.67385	-7.526	0.57793	D	0.803226725685942	0.87956	0.531	0.66670	A	.;.	.;.	3.868307	0.56145	23.7	0.99495853286271851	0.67744	0.99753	0.99211	D	AEFBI	0.836665	0.75439	D	0.56937207432988	0.71269	5.625336	0.579739048421578	0.73488	5.978799	0.999853971234939	0.44174	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	8.293000	0.89858	11.232000	0.90136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.856	0.69969	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	189.73	40	chr15	43021291	.	A	G	189.73	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.387e+00;DP=1753;ExcessHet=0.3300;FS=121.510;InbreedingCoeff=-0.0782;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=-7.310e-01;SOR=11.241	GT:AD:DP:GQ:PL	0/1:102,34:136:99:158,0,1911	18	0	3	0
chr15	43253510	43253510	G	A	exonic	TGM5	.	nonsynonymous SNV	TGM5:NM_004245:exon4:c.C434T:p.A145V	Peeling skin syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.981	D	0.000	D	1.000	D	3.265	M	-3.02	D	0.992	D	0.891	D	0.81	5.411	34	4.79	2.649	9.247	15.707	0.883	0.143290410556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.988	0.68779	D	0.736	0.75168	P	0.000000	0.84330	D	0.000000	0.999977	0.53665	D	3.115	0.87836	M	-3.02	0.92258	D	-3.75	0.71157	D	0.761	0.75927	0.992	0.97061	D	0.891	0.96395	D	10	0.8555182	0.84746	D	0.14329	0.82562	D	0.883	0.96576	0.685	0.82271	0.83710409474	0.83555	0.5370040640801488	0.53625	0.344158463201	0.36343	0.732561588287	0.71880	T	0.319088	0.69041	T	0.342467	0.85998	D	0.254154	0.85814	D	0.997307181358337	0.91240	D	0.770923	0.60517	T	0.61665237	0.73584	0.6414646	0.79051	0.61665237	0.73585	0.6414646	0.79052	-11.035	0.80528	D	0.7538800060099708	0.83591	0.767	0.78462	P	.;.;.;.;.	.;.;.;.;.	5.721135	0.93226	33	0.99940564955574063	0.99767	0.92183	0.55130	D	ALL	0.873402	0.79574	D	0.941389203790599	0.93635	12.171	0.874626218829891	0.94368	12.70741	1.0	0.98316	0.487112	0.14033	0	0.218748	0.04544	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.79	4.79	0.60909	9.775000	0.98175	11.887000	0.98989	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	15.707	0.77348	15	0.98792	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1005.98	35	chr15	43253510	.	G	A	1005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.51;DP=796;ExcessHet=0.0000;FS=0.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=-4.900e-01;SOR=0.586	GT:AD:DP:GQ:PL	0/1:55,37:92:99:1020,0,1465	20	0	1	0
chr15	48456748	48456748	G	A	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon44:c.C5311T:p.R1771W,	Acromicric dysplasia, Autosomal dominant;Ectopia lentis, familial, Autosomal dominant;Geleophysic dysplasia 2, Autosomal dominant;MASS syndrome;Marfan lipodystrophy syndrome, Autosomal dominant;Marfan syndrome, Autosomal dominant;Stiff skin syndrome, Autosomal dominant;Weill-Marchesani syndrome 2, dominant, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	912788	Marfan_syndrome|Ectopia_lentis_1,_isolated,_autosomal_dominant|Stiff_skin_syndrome|Progeroid_and_marfanoid_aspect-lipodystrophy_syndrome|Acromicric_dysplasia|MASS_syndrome|Weill-Marchesani_syndrome_2,_dominant|Geleophysic_dysplasia_2|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900,Orphanet:2833|MONDO:MONDO:0014831,MedGen:C4310796,OMIM:616914,Orphanet:300382|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,Orphanet:969|MONDO:MONDO:0011431,MedGen:C1858556,OMIM:604308,Orphanet:99715|MONDO:MONDO:0012013,MedGen:C1869115,OMIM:608328,Orphanet:2084|MONDO:MONDO:0013612,MedGen:C3280054,OMIM:614185,Orphanet:2623|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.912	D	0.000	D	1.000	D	1.07	L	-3.05	D	0.621	D	0.765	D	0.794	3.760	19.09	5.8	2.735	1.809	13.567	0.646	0.104405308129	.	.	1.654e-05	0	0	0	0.0002	1.504e-05	0	0	1.29e-05	2	154602	rs767884599	1.984e-05	1.984e-05	2.179e-05	1.788e-05	2.988e-05	1.392e-05	1.204e-05	1.378e-05	1.151e-05	2.988e-05	0	0	0	1.876e-05	0	2.069e-05	4.97e-05	1.159e-05	2.633e-05	2.628e-05	2.572e-05	2.697e-05	4.838e-05	8.15e-06	5.15e-06	8.02e-06	3e-06	4.838e-05	0	0	0	0	0	0	2.941e-05	0	0	0.013	0.53900	D	0.017	0.60337	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999974	0.53665	D	.	.	.	-3.05	0.92407	D	-3.69	0.70432	D	0.556	0.58117	0.621	0.92169	D	0.765	0.92016	D	10	0.6586945	0.70025	D	0.104405	0.77897	D	0.646	0.86586	0.514	0.61307	0.863254363944	0.86192	.	.	1.42932621729	0.85777	0.879084587097	0.93836	D	.	.	.	0.261251	0.79646	D	0.152979	0.80373	D	0.95329338312149	0.63993	D	0.976302	0.91743	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.56806	A	.	.	5.530878	0.91870	32	0.9991342609321564	0.98238	0.93937	0.59625	D	AEFBI	0.809153	0.73274	D	0.563843613362075	0.70929	5.574283	0.599325949044525	0.74891	6.214961	0.999994795415015	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	2.273000	0.43041	5.948000	0.51598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.7428:0.2572	13.567	0.61289	386	0.83455	.	.	.	.	.	.	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	2272.98	43	chr15	48456748	.	G	A	2272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.406;DP=898;ExcessHet=0.0000;FS=2.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=-1.620e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/1:70,86:156:99:2287,0,1893	20	0	1	0
chr15	48784114	48784114	T	C	exonic	CEP152	.	nonsynonymous SNV	CEP152:NM_001194998:exon10:c.A1180G:p.I394V	Microcephaly 9, primary, autosomal recessive, Autosomal recessive;Seckel syndrome 5, Autosomal recessive	.	2	1506	14	0	0	14	0.00462657	.	.	169168	Microcephaly_9,_primary,_autosomal_recessive|CEP152-related_disorder|not_provided|Seckel_syndrome_5|not_specified	MONDO:MONDO:0013923,MedGen:C3553886,OMIM:614852,Orphanet:2512|MedGen:CN239248|MedGen:C3661900|MONDO:MONDO:0013443,MedGen:C3151187,OMIM:613823,Orphanet:808|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.018	B	0.007	B	0.057	N	1.000	N	1.05	L	-1.13	T	-0.966	T	0.168	T	0.07	-0.644	1.159	-1.79	-0.233	-0.235	0.303	0.115	0.0146603056174	0.0026	0.00119808	0.0025	0.0005	0.0021	0.0001	0.0005	0.0037	0.0012	0.0013	0.002238	346	154602	rs181295720	0.0029	0.0029	0.0028	0.0030	0.0078	0.0028	0.0028	0.0060	0.0054	0.0005	0.0022	0.0077	2.521e-05	0.0002	0.0078	0.0032	0.0034	0.0018	0.0021	0.0021	0.0022	0.0020	0.0032	0.0019	0.0018	0.0028	0.0027	0.0008	0	0.0024	0.0058	0.0002	0.0003	0.0034	0.0032	0.0033	0.0006	0.293	0.15458	T	0.224	0.25591	T	0.018	0.17786	B	0.005	0.11217	B	0.057372	0.22486	N	0.475067	0.999949	0.19238	N	0.82	0.20857	L	-1.13	0.77719	T	-0.06	0.10480	N	0.1	0.10626	-0.9661	0.37994	T	0.168	0.50810	T	10	0.0050874054	0.00110	T	0.01466	0.34921	T	0.115	0.32236	.	.	0.522664700966	0.51911	0.01812364532612605	0.01766	0.0548285271129	0.06069	0.27352976799	0.06606	T	0.00365	0.03060	T	-0.510894	0.00496	T	-0.509062	0.21412	T	0.00124863064896183	0.00012	T	0.538946	0.18179	T	0.015520716	0.00143	0.021870522	0.00225	0.01575336	0.00156	0.025765443	0.00633	-3.654	0.21553	T	0.16547279795631945	0.20515	0.079	0.07083	B	.;.;.	.;.;.	0.796378	0.11666	8.252	0.58992043625958013	0.06120	0.10870	0.16249	N	AEFBI	0.063014	0.12150	N	-1.50543333649249	0.01814	0.07950455	-1.5000994802889	0.02344	0.107669	0.628981633488429	0.21951	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.35	-1.79	0.07504	-0.257000	0.08765	-0.299000	0.10130	-0.718000	0.03832	0.002000	0.15269	0.000000	0.08366	0.762000	0.36218	0.2147:0.2372:0.202:0.346	0.303	0.00256	261	0.89765	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	801.98	33	chr15	48784114	.	T	C	801.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.796;DP=763;ExcessHet=0.0000;FS=2.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=0.00;SOR=1.056	GT:AD:DP:GQ:PL	0/1:34,33:67:99:816,0,805	20	0	1	0
chr15	49046296	49046296	C	A	exonic	SECISBP2L	.	nonsynonymous SNV	SECISBP2L:NM_001193489:exon1:c.G4T:p.D2Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.996	D	0.026	N	0.953	D	0.345	N	-0.92	T	-0.180	T	0.379	T	0.686	4.162	21.5	4.77	2.635	3.075	13.466	0.341	0.481999294411	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1039939220	1.427e-06	4.104e-06	0	2.887e-06	1.846e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.846e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.023	0.57587	D	0.999	0.90584	D	0.99	0.84481	D	0.025939	0.26005	N	0.382752	0.952537	0.37789	D	0.895	0.22405	L	-0.89	0.75108	T	-1.39	0.53096	N	0.441	0.49511	-0.1805	0.78167	T	0.379	0.73640	T	10	0.40353397	0.55734	T	0.481999	0.94857	D	0.341	0.66297	0.388	0.40951	0.626772065779	0.62373	0.4213176109249252	0.42047	0.703111009404	0.61248	0.854027986526	0.90221	D	0.024155	0.30598	T	0.147093	0.68995	D	-0.0264874	0.68601	D	0.956550598144531	0.64786	D	0.60264	0.22576	T	0.3171522	0.54398	0.43887258	0.67258	0.3171522	0.54398	0.43887258	0.67258	-6.547	0.50648	T	.	.	0.394	0.64862	A	.;.;.	.;.;.	3.670177	0.52182	23.2	0.99061736746898432	0.51505	0.37782	0.25839	N	ALL	0.262709	0.38040	N	0.444190135372109	0.63873	4.629789	0.456814916590923	0.65158	4.788322	0.999999999919995	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.77	4.77	0.60425	3.111000	0.50053	7.060000	0.57403	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.689000	0.33808	0.0:1.0:0.0:0.0	13.466	0.60709	460	0.78750	.;.;.	.	.	.	.	.	Uncertain significance	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	335.98	34	chr15	49046296	.	C	A	335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=699;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=0.749;SOR=0.735	GT:AD:DP:GQ:PL	0/1:20,16:36:99:350,0,415	20	0	1	0
chr15	66119137	66119137	G	A	exonic	MEGF11	.	nonsynonymous SNV	MEGF11:NM_001385031:exon3:c.C10T:p.R4W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.999	D	.	.	1.000	D	1.845	L	-2.15	D	0.418	D	0.724	D	0.84	4.617	25.2	5.29	2.478	5.284	12.991	0.705	0.0379646633797	.	.	.	.	.	.	.	.	.	.	.	.	.	rs765433861	1.215e-05	1.163e-05	9.871e-06	1.449e-05	6.33e-05	7.4e-06	6.05e-06	1.048e-05	4.68e-06	6.33e-05	2.801e-05	0	0	0	0	1.112e-05	1.723e-05	1.262e-05	6.577e-06	6.569e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.002	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999995	0.81001	D	2.215	0.62545	M	-2.22	0.87038	D	-4.59	0.78891	D	0.752	0.78356	0.418	0.89365	D	0.724	0.90528	D	9	0.81799453	0.81023	D	0.037965	0.57939	D	0.705	0.89422	0.616	0.75000	0.634044673573	0.63104	0.5844959827551395	0.58379	0.502531134374	0.48607	0.900922179222	0.96542	D	0.288448	0.66124	T	0.154713	0.69709	D	0.221127	0.84232	D	0.903674006462097	0.55694	D	0.989876	0.96783	D	0.25609466	0.48648	0.28724572	0.54735	0.25609466	0.48648	0.28724572	0.54735	-10.34	0.75922	D	.	.	0.643	0.70629	P	.;.;.	.;.;.	5.424787	0.90741	31	0.99933052684278856	0.99488	0.96589	0.69899	D	AEFBI	0.854841	0.77190	D	0.690258828616028	0.78993	6.985009	0.679160663175073	0.80802	7.379986	0.999997600759176	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	5.391000	0.66015	6.532000	0.55860	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.8388:0.1612	12.991	0.58023	339	0.86048	EMI domain;EMI domain;EMI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2136.98	46	chr15	66119137	.	G	A	2136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.470e-01;DP=951;ExcessHet=0.0000;FS=2.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=0.727;SOR=0.666	GT:AD:DP:GQ:PL	0/1:65,84:149:99:2151,0,1505	20	0	1	0
chr15	66497697	66497697	T	A	exonic	SNAPC5	.	nonsynonymous SNV	SNAPC5:NM_001329613:exon1:c.A35T:p.E12V	.	.	412	1098	12	0	0	12	0.00543478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.997	D	0.000	D	1.000	D	.	.	.	.	-0.008	T	0.455	T	0.834	3.071	16.25	5.38	2.037	2.996	15.052	0.329	0.256562031227	.	0.000998403	0.0009	0.0012	0.0005	0	0	0.0011	0	0.0008	0.0007568	117	154602	rs143176301	0.0007	0.0007	0.0007	0.0007	0.0134	0.0007	0.0006	0.0109	0.0100	0.0006	0.0008	0.0033	0	0.0002	0.0134	0.0006	0.0012	0.0009	0.0006	0.0006	0.0006	0.0006	0.0014	0.0005	0.0005	0.0009	0.0008	0.0006	0	0.0014	0.0023	0	9.422e-05	0.0102	0.0005	0.0024	0.0004	0.0	0.91255	D	0.003	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.051322	0.999996	0.58761	D	.	.	.	.	.	.	-6.92	0.93697	D	0.636	0.64903	-0.0079	0.82093	T	0.455	0.78749	T	8	0.03437254	0.01644	T	0.256562	0.89335	D	0.329	0.65126	.	.	0.386882687439	0.38305	0.5695062255128629	0.56878	0.0255764802704	0.02614	0.742753446102	0.73378	T	0.359983	0.72630	T	0.0555186	0.59049	T	0.239496	0.85124	D	0.0909016260828954	0.11325	T	0.867413	0.60664	D	0.9143146	0.92700	0.94231385	0.97918	0.9143146	0.92701	0.94231385	0.97919	-10.641	0.79986	D	0.7148929900600671	0.79546	0.963	0.92161	P	.;.;.;.;.	.;.;.;.;.	4.629637	0.73600	26.0	0.93635043294018161	0.23511	0.86812	0.46175	D	ALL	0.618480	0.60427	D	0.581286405822694	0.72009	5.738448	0.57352084886359	0.73048	5.907093	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.38	5.38	0.77279	2.970000	0.48932	7.775000	0.68548	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	15.052	0.71542	829	0.39537	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1269.98	33	chr15	66497697	.	T	A	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.707;DP=794;ExcessHet=0.0000;FS=1.849;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.87;ReadPosRankSum=-3.700e-01;SOR=0.493	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,34:80:99:0|1:66497697_T_A:1284,0,1799:66497697	20	0	1	0
chr15	66497698	66497698	C	T	exonic	SNAPC5	.	nonsynonymous SNV	SNAPC5:NM_001329613:exon1:c.G34A:p.E12K	.	.	411	1099	12	0	0	12	0.00542986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.99	D	0.000	D	1.000	D	.	.	.	.	0.116	D	0.521	D	0.845	3.764	19.11	5.38	2.517	4.400	18.726	0.777	0.248454682076	.	0.000998403	0.0009	0.0012	0.0005	0	0	0.0011	0	0.0008	0.0007568	117	154602	rs151153879	0.0007	0.0007	0.0007	0.0007	0.0131	0.0007	0.0006	0.0106	0.0097	0.0006	0.0008	0.0033	0	0.0002	0.0131	0.0006	0.0012	0.0009	0.0006	0.0006	0.0006	0.0006	0.0014	0.0005	0.0005	0.0009	0.0008	0.0006	0	0.0014	0.0023	0	9.411e-05	0.0102	0.0005	0.0024	0.0004	0.0	0.91255	D	0.013	0.92824	D	0.996	0.68779	D	0.99	0.78936	D	0.000000	0.84330	D	0.051322	0.999996	0.58761	D	.	.	.	.	.	.	-3.96	0.74051	D	0.647	0.67650	0.116	0.84465	D	0.521	0.82105	D	8	0.059261233	0.07096	T	0.248455	0.89011	D	0.777	0.92542	.	.	0.332386209738	0.32853	0.649857374773167	0.64921	0.0252044935394	0.02567	0.813768982887	0.84071	D	0.348235	0.71625	T	0.0842364	0.62532	D	0.280747	0.87166	D	0.0617009040666935	0.07434	T	0.934107	0.78679	D	0.9519016	0.96459	0.9313925	0.97190	0.9519016	0.96459	0.9313925	0.97191	-8.765	0.66172	D	0.37750976398392655	0.47233	0.918	0.86244	P	.;.;.;.;.	.;.;.;.;.	4.901762	0.80576	27.4	0.99450028279118829	0.65223	0.94750	0.62201	D	ALL	0.789646	0.71878	D	0.679275255566057	0.78275	6.838729	0.676726858984513	0.80615	7.33834	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.38	5.38	0.77279	4.436000	0.59691	7.561000	0.60481	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.726	0.91676	829	0.39537	.;.;.;.;.	.	.	.	.	.	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	1269.98	33	chr15	66497698	.	C	T	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=794;ExcessHet=0.0000;FS=1.849;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.87;ReadPosRankSum=-6.140e-01;SOR=0.493	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,34:80:99:0|1:66497697_T_A:1284,0,1799:66497697	20	0	1	0
chr15	70671053	70671053	T	C	exonic	UACA	.	nonsynonymous SNV	UACA:NM_001008224:exon15:c.A1168G:p.M390V	.	.	604	904	14	0	0	14	0.00768386	.	.	3216820	UACA-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.001	B	0.531	N	1.000	N	0.41	N	2.0	T	-1.017	T	0.028	T	0.167	0.535	6.899	-7.65	-1.393	-0.375	10.212	0.044	.	0.0028	0.00379393	0.0060	0.0006	0.0039	0.0002	0.0020	0.0060	0.0023	0.0163	0.0053751	831	154602	rs150049035	0.0040	0.0042	0.0035	0.0045	0.0150	0.0039	0.0039	0.0143	0.0140	0.0006	0.0038	0.0105	7.676e-05	0.0020	0.0120	0.0033	0.0052	0.0150	0.0036	0.0036	0.0035	0.0037	0.0162	0.0034	0.0033	0.0133	0.0122	0.0006	0.0044	0.0056	0.0084	0	0.0012	0.0102	0.0045	0.0043	0.0162	0.384	0.13003	T	0.65	0.19073	T	0.0	0.02946	B	0.0	0.04355	B	0.531466	0.05260	N	1.229740	1	0.08975	N	-1.39	0.00611	N	1.51	0.32958	T	0.14	0.05405	N	0.094	0.07535	-1.0172	0.24625	T	0.028	0.11838	T	10	0.0015494525	0.00018	T	.	.	.	0.044	0.11924	.	.	0.104622674875	0.10061	0.12616904721490055	0.12542	0.0878705355583	0.09920	0.275885760784	0.06925	T	0.102601	0.41048	T	-0.620615	0.00109	T	-0.651923	0.08820	T	0.00288576810051717	0.00030	T	0.643236	0.26930	T	0.032945983	0.03418	0.056885745	0.10243	0.032945983	0.03417	0.056885745	0.10243	-3.126	0.11597	T	.	.	0.052	0.00461	B	.;.;.;.;.	.;.;.;.;.	-0.013232	0.04192	1.018	0.78284370114654056	0.12234	0.02355	0.06716	N	AEDGBCI	0.042721	0.06663	N	-1.42152071592821	0.02450	0.1082207	-1.45182744486338	0.02753	0.1272284	0.999999957479853	0.74766	0.706298	0.61202	0	0.61073	0.52368	0	0.709663	0.75317	0	0.636	0.56748	0	.	.	5.25	-7.65	0.01142	-0.483000	0.06616	0.110000	0.14769	-0.349000	0.05595	0.003000	0.16062	0.609000	0.25758	0.984000	0.60418	0.0956:0.6385:0.121:0.1448	10.212	0.42324	953	0.10115	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	698.98	37	chr15	70671053	.	T	C	698.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.070e-01;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.230;SOR=0.583	GT:AD:DP:GQ:PL	0/1:35,30:65:99:713,0,909	20	0	1	0
chr15	72345476	72345476	C	T	exonic	HEXA	.	nonsynonymous SNV	HEXA:NM_000520:exon13:c.G1496A:p.R499H	GM2-gangliosidosis, several forms, Autosomal recessive;Tay-Sachs disease, Autosomal recessive	YES	0	1518	4	0	0	4	0.00131579	.	.	18938	Gm2-gangliosidosis,_juvenile|Tay-Sachs_disease|not_provided|Inborn_genetic_diseases	MedGen:C0268276|MONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800,Orphanet:845|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	A	3.52	H	-4.53	D	1.086	D	0.971	D	0.978	5.220	33	5.71	2.709	4.215	19.868	0.892	0.250417958122	.	.	7.415e-05	0	0	0	0	2.997e-05	0	0.0004	5.82e-05	9	154602	rs121907956	7.183e-05	7.182e-05	6.534e-05	7.838e-05	0.0004	6.047e-05	5.595e-05	0.0003	0.0003	0	0	0	0	0	0.0002	6.205e-05	1.656e-05	0.0004	3.284e-05	3.283e-05	6.422e-05	0	5.879e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.411e-05	0	0	0	0	0	0	5.879e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	A	3.705	0.94653	H	-4.53	0.97713	D	-4.64	0.79316	D	0.981	0.99670	1.086	0.99097	D	0.971	0.99102	D	9	0.9543921	0.94791	D	0.250418	0.89090	D	0.892	0.96910	.	.	0.994230711063	0.99416	0.9696749151766246	0.96955	0.838673171438	0.67938	0.494319111109	0.38038	T	0.962685	0.99531	D	0.36715	0.87805	D	0.594157	0.96934	D	0.992381036281586	0.82850	D	0.90121	0.65680	D	0.8408219	0.86667	0.6666385	0.80451	0.83979577	0.86595	0.6963891	0.82123	-10.643	0.77665	D	0.8586115139022448	0.92272	0.785	0.76596	P	.;.;.	.;.;.	4.934956	0.81390	27.5	0.99868851275574999	0.94637	0.98812	0.87175	D	AEFBI	0.797319	0.72419	D	0.637878631067833	0.75587	6.332277	0.472149093174774	0.66149	4.914913	0.999999999982387	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	7.557000	0.81197	7.698000	0.66136	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.135000	0.19760	0.0:1.0:0.0:0.0	19.868	0.96822	201	0.92177	.;.;.	.	.	.	.	.	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	2873.98	34	chr15	72345476	.	C	T	2873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=1316;ExcessHet=0.0000;FS=2.063;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=0.036;SOR=0.565	GT:AD:DP:GQ:PL	0/1:147,121:268:99:2888,0,3476	20	0	1	0
chr15	72661342	72661342	G	A	exonic	GOLGA6B	.	nonsynonymous SNV	GOLGA6B:NM_018652:exon8:c.G643A:p.V215M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.01	B	0.002	B	.	.	1.000	N	1.07	L	1.97	T	-1.010	T	0.032	T	0.343	-0.590	1.357	0.39	0.472	-0.117	3.425	0.054	0.00161308893799	.	.	5.217e-05	0.0001	0	0.0002	0	3.188e-05	0	6.078e-05	3.84e-05	1	26028	rs773053523	5.617e-05	8.824e-05	6.134e-05	5.094e-05	0.0002	4.616e-05	4.242e-05	7.127e-05	5.484e-05	5.981e-05	2.236e-05	0	5.039e-05	1.92e-05	0.0002	5.666e-05	1.657e-05	0.0001	6.575e-05	9.843e-05	7.72e-05	5.379e-05	0.0004	3.519e-05	2.618e-05	6.816e-05	2.853e-05	7.25e-05	0	0.0001	0	0.0004	0	0	2.941e-05	0	0.0002	0.183	0.21718	T	0.194	0.28120	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	0.999744	0.20516	N	0.64	0.16041	N	1.97	0.22067	T	-0.53	0.16393	N	0.248	0.28028	-1.0095	0.27074	T	0.032	0.13811	T	9	0.037614614	0.02127	T	0.001613	0.02600	T	0.054	0.15330	0.185	0.09388	0.0401082797425	0.02173	0.11380420062270966	0.11308	.	.	0.861310660839	0.91304	D	0.003594	0.03000	T	-0.411734	0.01935	T	-0.569525	0.15494	T	0.04003503688079	0.03696	T	0.671933	0.28057	T	0.024315586	0.01252	0.035364285	0.02775	0.024315586	0.01251	0.035364285	0.02775	-4.389	0.29408	T	.	.	0.199	0.42259	B	.	.	0.701809	0.10706	7.399	0.77749846855300953	0.12006	0.00530	0.02456	N	AEFI	0.034736	0.04355	N	-1.10179631500486	0.06611	0.3048343	-1.22429112110196	0.05522	0.2633247	6.26686191044207E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.39	0.39	0.15500	-0.175000	0.09816	0.876000	0.22354	0.295000	0.18837	0.002000	0.15269	0.250000	0.23912	0.001000	0.02609	1.0E-4:1.0E-4:0.5495:0.4504	3.425	0.06981	431	0.80762	.	.	.	.	.	.	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	754.99	39	chr15	72661342	.	G	A	754.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.840e-01;DP=923;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=38.93;MQRankSum=0.359;QD=4.24;ReadPosRankSum=-6.190e-01;SOR=0.719	GT:AD:DP:GQ:PL	0/1:131,47:178:99:769,0,3197	20	0	1	0
chr15	74072262	74072262	G	A	exonic	GOLGA6A	.	nonsynonymous SNV	GOLGA6A:NM_001038640:exon14:c.C1549T:p.P517S,	.	.	405	1092	25	0	0	25	0.0113173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.001	B	0.008	B	.	.	1.000	N	1.755	L	1.99	T	-0.966	T	0.034	T	0.091	-0.081	3.605	-3.11	-0.702	-0.254	0.353	0.020	.	.	.	0.0087	0.0378	0.0118	0.0387	0	0.0022	0.0057	0.0057	3.84e-05	1	26028	rs3964634	0.0008	0.0036	0.0009	0.0008	0.0114	0.0008	0.0008	0.0105	0.0101	0.0087	0.0025	0.0029	0.0114	7.639e-05	0.0048	0.0001	0.0012	0.0009	0.0022	0.0061	0.0020	0.0024	0.0135	0.0020	0.0019	0.0109	0.0099	0.0047	0	0.0029	0.0027	0.0135	0	0.0035	0.0001	0.0034	0.0011	0.118	0.28148	T	0.158	0.31629	T	0.001	0.07471	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	2.485	0.72352	M	1.99	0.21666	T	-3.15	0.64132	D	0.199	0.21969	-0.9660	0.38013	T	0.034	0.14596	T	9	0.005031675	0.00108	T	.	.	.	0.020	0.03691	.	.	0.0138822411134	0.00435	0.0749176636734956	0.07427	1.76277912104	0.91153	0.497287631035	0.38450	T	0.029471	0.21111	T	-0.315245	0.07294	T	-0.690604	0.06354	T	0.0128739248984829	0.00220	T	0.686431	0.29515	T	0.036610037	0.04537	0.07883556	0.17694	0.036610037	0.04537	0.07883556	0.17694	-3.149	0.11867	T	.	.	0.096	0.15296	B	.	.	0.345422	0.07190	3.777	0.44113949152018833	0.03369	0.02256	0.06529	N	AEFI	0.044811	0.07256	N	-1.5699202338572	0.01421	0.0619938	-1.7125793837809	0.01082	0.04862169	3.17110207094558E-4	0.06498	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.55	-3.11	0.04975	-0.178000	0.09775	1.202000	0.24844	-2.432000	0.00285	0.001000	0.13787	0.010000	0.20010	0.000000	0.00833	0.3002:0.1942:0.3097:0.1959	0.353	0.00327	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	275.06	44	chr15	74072262	.	G	A	275.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=1029;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=46.54;MQRankSum=-1.634e+00;QD=3.62;ReadPosRankSum=1.05;SOR=0.600	GT:AD:DP:GQ:PL	0/1:59,17:76:99:289,0,1640	20	0	1	0
chr15	75270143	75270143	G	A	exonic	GOLGA6C	.	nonsynonymous SNV	GOLGA6C:NM_001164404:exon18:c.G2026A:p.D676N,	.	.	357	1154	9	2	0	13	0.00560103	.	.	2238037	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.996	D	0.981	D	.	.	1.000	N	2.29	M	1.89	T	-1.025	T	0.122	T	0.022	1.309	10.29	.	-0.000	3.792	5.818	0.160	0.00363506451446	.	.	0.0001	0.0004	0	0.0002	0	0.0002	0.0011	0	0.0001617	25	154602	rs759718533	0.0003	0.0010	0.0003	0.0003	0.0034	0.0003	0.0003	0.0021	0.0017	0.0005	0.0009	3.874e-05	0.0010	0	0.0034	0.0003	0.0004	0.0002	0.0002	0.0009	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	0.0001	0	0.0004	0	0	0	0.0105	0.0002	0.0010	0	0.086	0.32610	T	0.143	0.33219	T	0.996	0.68779	D	0.981	0.75168	D	.	.	.	.	0.999637	0.20820	N	3.08	0.87267	M	1.89	0.23688	T	-2.29	0.50992	N	0.172	0.18376	-1.0248	0.22148	T	0.122	0.42272	T	8	0.15918177	0.29915	T	0.003635	0.08340	T	0.160	0.41473	0.263	0.20788	0.144782658237	0.14088	0.05356826369261531	0.05298	0.00230504125883	0.00198	0.591845035553	0.51754	T	0.045974	0.27284	T	-0.516048	0.00464	T	-0.670176	0.07597	T	0.118791940562018	0.14312	T	0.611839	0.23263	T	0.0900664	0.21064	0.06462031	0.12978	0.0900664	0.21064	0.06462031	0.12978	-3.521	0.16727	T	.	.	0.079	0.07460	B	.	.	1.468082	0.18916	13.99	0.98644588008126977	0.44096	0.53252	0.29327	D	AEFDI	0.281013	0.39469	N	-0.215494524765919	0.32497	1.833375	-0.517876742663213	0.21668	1.173238	0.0072213483233818	0.11414	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	3.975000	0.56567	2.248000	0.31665	0.393000	0.20503	1.000000	0.71638	0.994000	0.32194	0.002000	0.04165	0.001:0.0:0.999:0.0	5.818	0.17765	513	0.74941	.	.	.	.	.	.	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	798.98	39	chr15	75270143	.	G	A	798.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.251;DP=868;ExcessHet=0.0000;FS=0.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.57;MQRankSum=-8.250e+00;QD=8.07;ReadPosRankSum=0.388;SOR=0.855	GT:AD:DP:GQ:PL	0/1:64,35:99:99:813,0,1676	20	0	1	0
chr15	75687854	75687854	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G3211A:p.V1071I,	.	.	429	1082	10	1	0	12	0.00551471	.	.	3430021	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.226	B	0.041	B	0.176	N	1.000	N	1.735	L	0.98	T	-1.033	T	0.098	T	0.106	1.101	9.494	4.14	1.103	1.433	11.734	0.040	0.0095671237633	0.0002	0.000199681	0.0002	9.86e-05	8.672e-05	0	0	0.0002	0.0034	0.0005	0.000207	32	154602	rs143544297	0.0002	0.0002	0.0001	0.0002	0.0062	0.0002	0.0002	0.0046	0.0041	8.961e-05	0.0001	0.0003	7.557e-05	0	0.0062	0.0001	0.0003	0.0009	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.623e-05	0	0.0002	0.0003	0	0	0.0068	0.0001	0.0014	0.0008	0.203	0.20154	T	0.211	0.26631	T	0.226	0.30455	B	0.041	0.23986	B	0.175967	0.17237	N	0.539133	1	0.08975	N	1.54	0.38927	L	0.98	0.42122	T	-0.74	0.20791	N	0.274	0.31027	-1.0328	0.19554	T	0.098	0.36677	T	10	0.02402541	0.00647	T	0.009567	0.25039	T	0.040	0.10527	.	.	0.223847106136	0.22009	0.1985138272065129	0.19768	0.283660828332	0.30797	0.264948606491	0.05494	T	0.07349	0.34710	T	-0.514191	0.00475	T	-0.633646	0.10139	T	0.00931770984205036	0.00119	T	0.562944	0.19809	T	0.06855209	0.14943	0.11397094	0.27508	0.06855209	0.14943	0.11397094	0.27507	-7.786	0.59602	D	.	.	0.099	0.16843	B	.	.	2.275660	0.29088	18.01	0.98078269462014078	0.38086	0.44108	0.27246	N	AEFDGBHCI	0.151457	0.27594	N	-0.466872488934897	0.23171	1.242485	-0.463218025171598	0.23174	1.262469	0.999484923228312	0.39952	0.59774	0.34471	0	0.588066	0.40923	0	0.576033	0.28219	0	0.63947	0.58350	0	.	.	5.07	4.14	0.47821	1.466000	0.34919	4.059000	0.41572	0.520000	0.23804	0.001000	0.13787	0.326000	0.24349	0.815000	0.38403	0.0:0.913:0.0:0.087	11.734	0.51022	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1922.98	57	chr15	75687854	.	C	T	1922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.051;DP=1408;ExcessHet=0.0000;FS=1.302;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=-2.265e+00;SOR=0.551	GT:AD:DP:GQ:PL	0/1:75,73:148:99:1937,0,1988	20	0	1	0
chr15	75689635	75689635	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1430A:p.R477H,	.	.	422	1077	23	0	0	23	0.010565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	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|1:76,11:87:99:0|1:75689631_A_G:228,0,3092:75689631	14	0	7	0
chr15	76995458	76995458	G	A	exonic	PSTPIP1	.	nonsynonymous SNV	PSTPIP1:NM_001321137:exon2:c.G80A:p.R27Q,	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.636e-05	0.0004	0	0	0	0.0001	0	0	2.59e-05	4	154602	rs753207002	2.886e-05	3.147e-05	2.651e-05	3.125e-05	0.0006	2.147e-05	1.932e-05	0.0004	0.0003	0.0006	0	0.0004	0	2.169e-05	0.0002	7.314e-06	1.702e-05	2.422e-05	0.0001	0.0001	0.0001	9.413e-05	0.0004	7.09e-05	5.746e-05	0.0002	0.0002	0.0004	0	6.541e-05	0.0003	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999977	0.18612	N	.	.	.	1.11	0.38883	T	-0.29	0.11728	N	.	.	.	.	.	.	.	.	.	0.042137206	0.02934	T	.	.	.	.	.	.	.	0.696942628111	0.69432	.	.	.	.	.	.	.	.	.	.	-0.544814	0.00313	T	-0.66068	0.08221	T	.	.	.	0.375062	0.08943	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18991	B	.	.	-0.200076	0.03089	0.486	0.90994299279949054	0.20244	0.02518	0.07018	N	AEFDGBCIJ	0.055932	0.10299	N	.	.	.	.	.	.	0.999999999998508	0.74766	0.497415	0.19182	0	0.298843	0.05288	2	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.22	-8.45	0.00826	-2.133000	0.01395	-4.018000	0.02390	-0.967000	0.01957	0.000000	0.06391	0.000000	0.08366	0.841000	0.39698	0.5389:0.2019:0.1573:0.1019	3.519	0.07293	294	0.88270	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1486.98	33	chr15	76995458	.	G	A	1486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.761;DP=805;ExcessHet=0.0000;FS=1.555;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=-1.528e+00;SOR=0.875	GT:AD:DP:GQ:PL	0/1:49,59:108:99:1501,0,1119	20	0	1	0
chr15	78208082	78208082	G	A	exonic	ACSBG1	.	nonsynonymous SNV	ACSBG1:NM_001199377:exon2:c.C152T:p.P51L	.	.	425	1093	3	1	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.002	B	0.004	B	0.876	N	1.000	N	0.345	N	1.65	T	-1.074	T	0.043	T	0.364	2.437	14.11	3.44	2.479	1.552	9.109	0.078	0.00774123739882	0.0002	0.000998403	0.0007	0	0.0004	0	0	0.0003	0.0012	0.0031	0.000511	79	154602	rs138418929	0.0004	0.0004	0.0003	0.0005	0.0038	0.0004	0.0003	0.0035	0.0034	0	0.0002	0.0046	0	0	0.0007	4.947e-05	0.0006	0.0038	0.0003	0.0003	0.0002	0.0004	0.0031	0.0002	0.0002	0.0019	0.0015	0	0	0.0005	0.0046	0	0	0.0034	5.88e-05	0.0005	0.0031	0.151	0.33254	T	0.412	0.14456	T	0.002	0.09854	B	0.004	0.10090	B	0.876012	0.08790	N	0.931581	1	0.19238	N	0.345	0.11182	N	1.65	0.27650	T	-1.2	0.36787	N	0.146	0.14763	-1.0740	0.08556	T	0.043	0.18535	T	10	0.0038167536	0.00072	T	0.007741	0.20536	T	0.078	0.22779	.	.	0.159798565429	0.15598	0.10942297355027707	0.10871	0.352544004537	0.37085	0.237734407187	0.02590	T	0.22147	0.58505	T	-0.484159	0.00700	T	-0.470343	0.25479	T	0.00422052529487909	0.00045	T	0.758824	0.39255	T	0.04349605	0.06788	0.055958584	0.09910	0.04349605	0.06788	0.055958584	0.09910	-3.492	0.16320	T	.	.	0.060	0.03162	B	.;.;.	.;.;.	1.541851	0.19772	14.43	0.97289972523045776	0.33228	0.10572	0.16041	N	AEFDGBI	0.071747	0.14295	N	-0.753785913321296	0.14531	0.7245912	-0.698088635372483	0.17008	0.9024266	0.999990396409947	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.44	3.44	0.38486	1.568000	0.36027	0.862000	0.22237	0.618000	0.50648	0.005000	0.17040	0.000000	0.08366	0.743000	0.35541	0.0:0.0:0.782:0.218	9.109	0.35878	799	0.44747	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1234.98	34	chr15	78208082	.	G	A	1234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.791;DP=830;ExcessHet=0.0000;FS=2.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-1.851e+00;SOR=0.707	GT:AD:DP:GQ:PL	0/1:64,53:117:99:1249,0,1503	20	0	1	0
chr15	78590578	78590578	C	T	exonic	CHRNA5	.	nonsynonymous SNV	CHRNA5:NM_000745:exon5:c.C1187T:p.A396V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.984	D	0.453	P	0.009	N	1.000	D	2.595	M	-0.56	T	-0.086	T	0.397	T	0.827	2.586	14.61	4.79	2.382	7.788	18.264	0.509	0.063446712571	0.0002	.	3.3e-05	0	0	0	0.0002	1.499e-05	0	0.0001	4.53e-05	7	154602	rs143586773	2.463e-05	2.463e-05	1.906e-05	3.025e-05	0.0002	1.803e-05	1.6e-05	9.75e-05	6.95e-05	0.0002	0	0	2.519e-05	3.744e-05	0	8.094e-06	0.0002	3.478e-05	0.0001	0.0001	0.0001	0.0001	0.0003	8.162e-05	6.719e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	1.47e-05	0.0014	0.0002	0.104	0.29959	T	0.083	0.41405	T	0.984	0.60733	D	0.453	0.46205	P	0.008645	0.30737	N	0.361552	1	0.81001	D	2.73	0.79844	M	-0.56	0.71187	T	-2.44	0.53420	N	0.823	0.81857	-0.0860	0.80418	T	0.397	0.74966	T	10	0.85227966	0.84410	D	0.063447	0.68969	D	0.509	0.78910	.	.	0.723157768034	0.72071	0.7136566219547802	0.71308	0.671977429293	0.59500	0.490918636322	0.37566	T	0.538833	0.84172	D	0.0490942	0.58226	T	0.112179	0.77718	D	0.496172517538071	0.32490	T	0.978702	0.92553	D	0.16573876	0.36865	0.26645216	0.52491	0.16573876	0.36865	0.26645216	0.52490	-6.431	0.49751	T	.	.	0.463	0.62859	A	.	.	3.738894	0.53529	23.4	0.99070490495475083	0.51715	0.98966	0.89286	D	AEFBI	0.899560	0.84409	D	0.426348270494892	0.62877	4.510876	0.345564930572405	0.58242	3.993534	0.999999998310767	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.79	4.79	0.60909	7.688000	0.83438	5.898000	0.50850	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.144000	0.20092	0.0:1.0:0.0:0.0	18.264	0.89985	739	0.53257	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	2398.98	34	chr15	78590578	.	C	T	2398.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.165;DP=863;ExcessHet=0.0000;FS=1.982;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.63;ReadPosRankSum=-5.620e-01;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,92:164:99:0|1:78590578_C_T:2413,0,1726:78590578	20	0	1	0
chr15	82345026	82345110	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1003.57	118	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*,T	1003.57	.	AC=6,3;AF=0.158,0.079;AN=38;BaseQRankSum=1.42;DP=2239;ExcessHet=1.1637;FS=1.330;InbreedingCoeff=-0.0364;MLEAC=6,3;MLEAF=0.158,0.079;MQ=40.84;MQRankSum=0.975;QD=1.08;ReadPosRankSum=-1.194e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:121,0,14:135:70:.:.:70,434,5402,0,4968,4925	11	0	5	2
chr15	82345027	82345110	AGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_833del:p.R286_L313del	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0017	0.0007	0.0007	0.0028	0.0007	0.0006	0.0020	0.0017	0.0007	0.0010	0.0026	0.0028	0.0016	0.0008	0.0006	0.0014	0.0005	0.0006	0.0016	0.0005	0.0007	0.0028	0.0004	0.0004	0.0011	0.0007	0.0005	0	0.0003	0.0005	0	0.0017	0	0.0004	0.0010	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1003.57	118	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*,T	1003.57	.	AC=6,3;AF=0.158,0.079;AN=38;BaseQRankSum=1.42;DP=2239;ExcessHet=1.1637;FS=1.330;InbreedingCoeff=-0.0364;MLEAC=6,3;MLEAF=0.158,0.079;MQ=40.84;MQRankSum=0.975;QD=1.08;ReadPosRankSum=-1.194e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:121,0,14:135:70:.:.:70,434,5402,0,4968,4925	11	0	5	2
chr15	82345087	82345087	C	0	exonic	GOLGA6L10	.	.	.	.	.	748	741	8	0	25	33	0.00536913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1995.03	118	chr15	82345087	.	C	T,*	1995.03	.	AC=3,4;AF=0.083,0.111;AN=36;BaseQRankSum=0.682;DP=2432;ExcessHet=2.7391;FS=0.630;InbreedingCoeff=-0.2500;MLEAC=3,4;MLEAF=0.083,0.111;MQ=38.42;MQRankSum=-1.259e+00;QD=2.52;ReadPosRankSum=-2.066e+00;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:121,0,14:135:70:.:.:70,434,5402,0,4968,4925	11	0	3	3
chr15	84025278	84025278	G	A	exonic	ADAMTSL3	.	nonsynonymous SNV	ADAMTSL3:NM_001301110:exon27:c.G4498A:p.G1500S	.	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.002	N	0.987	D	3.055	M	-0.46	T	0.269	D	0.552	D	0.761	4.628	25.3	5.15	2.661	5.487	15.931	0.502	0.0851577928096	7.7e-05	0.000399361	0.0002	0	0.0004	0	0	0.0002	0	0.0004	0.000194	30	154602	rs138649477	0.0001	0.0001	0.0001	0.0001	0.0036	0.0001	0.0001	0.0024	0.0021	8.962e-05	0.0002	7.672e-05	0.0002	1.874e-05	0.0036	0.0001	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	2.406e-05	0	0.0001	0	0.0002	0	0	0.0002	0.0019	0.0004	0.012	0.54683	D	0.045	0.49663	D	1.0	0.90584	D	0.93	0.77976	D	0.002038	0.37411	N	0.000000	0.986653	0.40465	D	3.845	0.95734	H	-0.46	0.70014	T	-3.36	0.66549	D	0.734	0.73465	0.269	0.87047	D	0.552	0.83626	D	10	0.6886272	0.71717	D	0.085158	0.74475	D	0.502	0.78475	.	.	0.878794633686	0.87760	0.8455936807256719	0.84520	0.551534003631	0.51990	0.394687086344	0.24327	T	0.05578	0.30103	T	-0.0307606	0.47306	T	0.0480393	0.73453	D	0.482312142848969	0.31982	T	0.862414	0.55771	D	0.31072298	0.53848	0.30939978	0.56955	0.31072298	0.53848	0.30939978	0.56954	-9.111	0.68408	D	.	.	0.117	0.34160	B	.;.	.;.	5.259854	0.88314	29.6	0.99862429860722435	0.94093	0.92717	0.56374	D	AEFDGI	0.618511	0.60429	D	0.716449214924806	0.80708	7.355049	0.603281198108359	0.75179	6.264835	0.965308700839249	0.28822	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.15	5.15	0.70287	5.632000	0.67493	9.233000	0.79371	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.0:0.0:1.0:0.0	15.931	0.79444	634	0.64659	.;.	.	.	.	.	.	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	1698.98	37	chr15	84025278	.	G	A	1698.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.894;DP=855;ExcessHet=0.0000;FS=1.217;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=-1.331e+00;SOR=0.803	GT:AD:DP:GQ:PL	0/1:97,72:169:99:1713,0,2323	20	0	1	0
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	0/2:144,0,26:170:99:.:.:517,954,6404,0,5450,5363	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	1/2:0,54,57:111:99:3261,1667,1504,1595,0,1424	0	11	9	0
chr15	85581763	85581763	G	T	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.G3695T:p.C1232F	.	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.246	B	0.072	B	.	.	1.000	N	0.975	L	2.56	T	-0.978	T	0.020	T	0.37	1.082	9.416	-1.16	0.036	0.210	1.338	0.091	0.00511989660992	.	.	1.653e-05	0	0	0	0	3.005e-05	0	0	1.29e-05	2	154602	rs757964494	8.209e-06	8.893e-06	8.167e-06	8.251e-06	0.0005	4.38e-06	3.46e-06	0.0001	7.541e-05	0	6.708e-05	0	0	0	0.0005	3.597e-06	3.312e-05	0	6.569e-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	0.051	0.56456	T	0.34	0.69154	T	0.159	0.31102	B	0.033	0.28043	B	.	.	.	.	1	0.08975	N	1.175	0.29870	L	2.56	0.13673	T	-2.84	0.59873	D	0.293	0.33360	-0.9778	0.35503	T	0.020	0.08593	T	9	0.090863496	0.15868	T	0.00512	0.13001	T	0.091	0.26358	0.325	0.30711	0.236619781664	0.23270	0.11895181330509427	0.11822	0.0524407087411	0.05777	0.308584660292	0.11693	T	0.085878	0.63870	T	-0.31204	0.07569	T	-0.489029	0.23493	T	0.0565071692615405	0.06606	T	0.649735	0.26051	T	0.07764557	0.17636	0.11799037	0.28482	0.07764557	0.17635	0.11799037	0.28482	-4.164	0.26388	T	.	.	0.131	0.28319	B	.;.;.	.;.;.	0.754259	0.11237	7.870	0.90751100593155898	0.20000	0.07105	0.13131	N	AEFDBHCI	0.075803	0.15232	N	-0.877044243087379	0.11390	0.5494146	-0.965320694656095	0.10570	0.5331826	0.999999888302104	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.709663	0.75317	0	0.657601	0.63696	0	.	.	4.61	-1.16	0.09181	0.105000	0.15169	-0.368000	0.09627	0.674000	0.70861	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2865:0.1485:0.4135:0.1515	1.338	0.02019	714	0.56256	.;.;.	.	.	.	.	.	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	1456.98	109	chr15	85581763	.	G	T	1456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.370e-01;DP=2323;ExcessHet=0.0000;FS=0.770;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=-9.880e-01;SOR=0.838	GT:AD:DP:GQ:PL	0/1:56,52:108:99:1471,0,1636	20	0	1	0
chr15	88845663	88845663	A	G	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon7:c.A1210G:p.I404V	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	0	1493	28	1	0	30	0.00994695	.	.	1196137	not_specified|Spondyloepiphyseal_dysplasia,_Kimberley_type|Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans|not_provided	MedGen:CN169374|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.001	B	0.285	N	1.000	N	0.755	N	4.71	T	-0.911	T	0.004	T	0.076	-0.005	3.989	-3.01	-0.392	-0.295	2.168	0.024	.	7.7e-05	0.0267572	0.0152	0.0001	0.0009	0.0124	0	0.0002	0.0178	0.1022	0.0133569	2065	154602	rs148070768	0.0065	0.0065	0.0039	0.0091	0.0968	0.0063	0.0063	0.0950	0.0943	0.0001	0.0004	0	0.0067	0	0.0035	0.0002	0.0097	0.0968	0.0042	0.0042	0.0027	0.0058	0.1082	0.0039	0.0038	0.1006	0.0975	0.0005	0	0.0005	0	0.0149	0	0	0.0001	0.0014	0.1082	0.243	0.17761	T	1.0	0.06643	T	0.0	0.02946	B	0.0	0.01387	B	0.284555	0.03855	N	1.691170	1	0.08975	N	0.83	0.20963	L	4.71	0.06291	T	-0.3	0.11913	N	0.037	0.02964	-0.9114	0.46682	T	0.004	0.01261	T	10	0.0017319918	0.00022	T	.	.	.	0.024	0.04979	.	.	.	.	0.35669920752929657	0.35583	0.163701473384	0.18462	0.282205790281	0.07802	T	0.095098	0.39551	T	-0.716182	0.00029	T	-0.787243	0.02241	T	0.000911843834536322	0.00009	T	0.567243	0.20674	T	0.041423783	0.06096	0.047140528	0.06726	0.044479884	0.07116	0.047140528	0.06726	-2.227	0.04173	T	0.12550148330874186	0.12498	0.129	0.27493	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.842136	0.01027	0.043	0.47514820808408115	0.03891	0.01218	0.04323	N	AEFDBI	0.026517	0.02006	N	-1.12570016169177	0.06189	0.2842374	-1.17513049505909	0.06327	0.3042367	0.0870381725852015	0.16024	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.19	-3.01	0.05132	-0.086000	0.11198	-1.744000	0.04806	-0.053000	0.16966	0.319000	0.25494	0.000000	0.08366	0.078000	0.17132	0.2754:0.1592:0.4103:0.1551	2.168	0.03608	969	0.06854	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6414.68	33	chr15	88845663	.	A	G	6414.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.100e-01;DP=1254;ExcessHet=0.3300;FS=1.105;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=-9.120e-01;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:102,109:211:99:.:.:2621,0,2461	18	0	3	0
chr15	88849458	88849458	C	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon10:c.C1753A:p.R585S	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	1	1493	27	1	0	29	0.00961857	.	.	1196140	Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Spondyloepiphyseal_dysplasia,_Kimberley_type|Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans|not_provided	MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.77	T	0.058	B	0.06	B	0.157	N	1.000	N	-0.44	N	3.21	T	-0.962	T	0.008	T	0.212	1.546	11.12	4.19	1.269	1.504	14.545	0.084	.	.	0.0269569	0.0191	0.0002	0.0010	0.0147	0.0002	0.0002	0.0227	0.1549	0.013027	2014	154602	rs144501729	0.0064	0.0065	0.0038	0.0091	0.0975	0.0063	0.0063	0.0957	0.0950	0.0002	0.0004	0	0.0066	5.731e-05	0.0034	0.0002	0.0092	0.0975	0.0041	0.0041	0.0026	0.0057	0.1071	0.0038	0.0037	0.0995	0.0965	0.0005	0	0.0005	0	0.0135	9.409e-05	0	0.0001	0.0014	0.1071	0.2	0.23450	T	0.993	0.09457	T	0.003	0.11197	B	0.01	0.14941	B	0.157313	0.17773	N	0.320773	1	0.08975	N	-0.245	0.03879	N	3.21	0.07125	T	-2.86	0.62630	D	0.219	0.31027	-0.9616	0.38877	T	0.008	0.02760	T	10	0.0015206337	0.00017	T	.	.	.	0.084	0.24469	.	.	.	.	0.3371614835293057	0.33629	0.222995365461	0.24826	0.350890189409	0.18053	T	0.082465	0.36833	T	-0.658143	0.00064	T	-0.640676	0.09620	T	0.0262152418393855	0.01435	T	0.215178	0.05801	T	0.29870522	0.52788	0.28842452	0.54859	0.3480815	0.56917	0.28842452	0.54858	-4.164	0.26228	T	0.1278163035417712	0.13149	0.388	0.60789	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.550133	0.33007	19.21	0.97284759840530921	0.33200	0.19452	0.20666	N	AEFDBI	0.306490	0.41362	N	-0.846953672655053	0.12124	0.5891365	-0.724503995040523	0.16352	0.8645878	0.832684827162608	0.24721	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.11	4.19	0.48645	0.915000	0.28260	2.769000	0.34658	0.599000	0.40250	0.003000	0.16062	0.994000	0.32194	0.873000	0.41610	0.1471:0.8529:0.0:0.0	14.545	0.67609	966	0.07191	Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;.;.;Link domain|Link domain|Link domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3690.68	33	chr15	88849458	.	C	A	3690.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.20;DP=915;ExcessHet=0.3300;FS=3.351;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.667;SOR=0.902	GT:AD:DP:GQ:PL	0/1:38,41:79:99:1203,0,951	18	0	3	0
chr15	88849587	88849587	G	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon10:c.G1882A:p.A628T	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	0	1494	27	1	0	29	0.0096122	.	.	1196141	Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Spondyloepiphyseal_dysplasia,_Kimberley_type|not_provided|Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans	MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MedGen:C3661900|MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.885	P	0.666	P	0.105	N	0.773	D	2.275	M	2.85	T	-0.966	T	0.057	T	0.38	3.399	17.48	1.99	0.181	0.231	13.965	0.147	.	8.2e-05	0.0267572	0.0197	0.0002	0.0009	0.0136	0	0.0002	0.0252	0.1124	0.0132081	2042	154602	rs200412974	0.0065	0.0065	0.0039	0.0091	0.0979	0.0064	0.0063	0.0962	0.0955	0.0001	0.0004	0	0.0065	0	0.0035	0.0002	0.0094	0.0979	0.0041	0.0041	0.0026	0.0057	0.1074	0.0038	0.0037	0.0997	0.0967	0.0005	0	0.0005	0	0.0133	0	0	0.0001	0.0014	0.1074	0.001	0.78490	D	0.219	0.37037	T	0.839	0.46454	P	0.54	0.48825	P	0.104549	0.19698	N	0.269330	0.772677	0.34170	D	.	.	.	2.85	0.10578	T	-2.73	0.58085	D	0.245	0.40063	-0.9659	0.38033	T	0.057	0.24092	T	10	0.0042779446	0.00086	T	.	.	.	0.147	0.38986	.	.	.	.	0.46768654305253654	0.46687	0.191107692456	0.21433	0.284922510386	0.08188	T	0.095092	0.39551	T	-0.482483	0.00715	T	-0.45155	0.27525	T	0.0876491242202929	0.10937	T	0.89531	0.63576	D	0.3168548	0.54373	0.39760146	0.64370	0.23576613	0.46417	0.39760146	0.64370	-7.55	0.57961	D	0.12764837360086825	0.13104	0.160	0.35267	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.544704	0.32927	19.19	0.99676016819602753	0.78912	0.58370	0.30624	D	AEFDBCI	0.195391	0.32243	N	0.158728002653882	0.49225	3.125372	0.0978900643823193	0.44442	2.725943	0.0515967608160388	0.14878	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.11	1.99	0.25423	0.276000	0.18478	1.680000	0.28007	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.4181:0.5819	13.965	0.63714	966	0.07191	Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;.;.;Link domain|Link domain|Link domain|Link domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6976.68	36	chr15	88849587	.	G	A	6976.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.43;DP=1486;ExcessHet=0.3300;FS=1.126;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-1.421e+00;SOR=0.619	GT:AD:DP:GQ:PL	0/1:105,85:190:99:2346,0,2706	18	0	3	0
chr15	88857732	88857732	G	T	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G5147T:p.S1716I	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	0	1492	29	1	0	31	0.0102819	.	.	1196144	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.002	N	1.000	D	2.65	M	3.62	T	-1.064	T	0.022	T	0.506	3.578	18.23	4.92	1.423	5.118	15.501	0.164	.	8.2e-05	0.0295527	0.0163	0.0003	0.0009	0.0205	0	0.0002	0.0189	0.1060	0.0144241	2230	154602	rs79925540	0.0070	0.0070	0.0044	0.0098	0.1001	0.0069	0.0069	0.0983	0.0976	0.0004	0.0004	0	0.0184	0	0.0038	0.0002	0.0111	0.1001	0.0047	0.0047	0.0031	0.0064	0.1106	0.0044	0.0043	0.1028	0.0997	0.0006	0	0.0005	0	0.0268	0	0	0.0001	0.0014	0.1106	0.0	0.91255	D	0.415	0.24694	T	.	.	.	.	.	.	0.001881	0.37789	N	0.000000	0.874614	0.35629	D	.	.	.	3.55	0.04746	T	-3.94	0.73684	D	0.15	0.45331	-1.0639	0.10807	T	0.022	0.09238	T	10	0.00233683	0.00034	T	.	.	.	0.164	0.42212	.	.	.	.	0.7197601509944354	0.71919	0.836619254689	0.67844	0.507168650627	0.39826	T	.	.	.	-0.404933	0.02149	T	-0.331438	0.41309	T	0.0535739177832831	0.06117	T	0.824218	0.49484	T	0.6429832	0.74990	0.585032	0.75937	0.6574989	0.75766	0.585032	0.75938	-8.981	0.67575	D	0.12465354892255805	0.12266	0.315	0.54123	B	.;.;.;.;.;.	.;.;.;.;.;.	3.917389	0.57168	23.8	0.99638083251245502	0.76449	0.98419	0.82582	D	AEFBI	0.654281	0.62702	D	0.730866682522821	0.81658	7.573601	0.68133681451556	0.80966	7.417242	0.970230948880462	0.29192	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.86	4.92	0.64147	4.255000	0.58595	8.457000	0.77235	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1389:0.8611:0.0	15.501	0.75431	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5401.68	100	chr15	88857732	.	G	T	5401.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.42;DP=2570;ExcessHet=0.3300;FS=9.376;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-1.659e+00;SOR=1.216	GT:AD:DP:GQ:PL	0/1:89,64:153:99:1889,0,2372	18	0	3	0
chr15	88858385	88858385	G	C	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G5800C:p.V1934L	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	0	1492	29	1	0	31	0.0102819	.	.	1196146	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.21	T	0.884	P	0.596	P	0.147	N	0.810	N	2.61	M	4.2	T	-1.101	T	0.008	T	0.152	0.930	8.789	-3.18	-0.447	0.041	12.503	0.121	.	.	0.0303514	0.0164	0.0003	0.0009	0.0216	0	0.0002	0.0189	0.1061	0.0145276	2246	154602	rs76282091	0.0071	0.0071	0.0044	0.0098	0.1002	0.0069	0.0069	0.0984	0.0977	0.0004	0.0004	0	0.0188	0	0.0038	0.0002	0.0111	0.1002	0.0047	0.0047	0.0031	0.0064	0.1095	0.0044	0.0043	0.1018	0.0987	0.0006	0	0.0005	0	0.0284	0	0	0.0001	0.0014	0.1095	0.016	0.59928	D	0.057	0.46406	T	.	.	.	.	.	.	0.147168	0.18089	N	0.300241	1	0.08975	N	.	.	.	4.2	0.03354	T	-1.96	0.45404	N	0.117	0.17553	-1.1006	0.04020	T	0.008	0.02926	T	10	0.0016039312	0.00019	T	.	.	.	0.121	0.33580	.	.	.	.	0.29420148835687954	0.29333	0.485768874065	0.47451	0.327430605888	0.14546	T	.	.	.	-0.580975	0.00190	T	-0.584309	0.14162	T	0.0615173059497363	0.07405	T	0.853715	0.55479	D	0.13021646	0.30391	0.13735288	0.32833	0.13426939	0.31202	0.13735288	0.32832	-6.254	0.51410	T	0.12705327745958234	0.12940	0.369	0.59522	A	.;.;.;.;.;.	.;.;.;.;.;.	0.844045	0.12159	8.707	0.88342601587151715	0.17902	0.12361	0.17221	N	AEFBI	0.092211	0.18671	N	-0.470338000125133	0.23056	1.235475	-0.666502628490601	0.17801	0.9481311	0.0137201645894468	0.12501	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.56	-3.18	0.04867	0.054000	0.14087	-0.161000	0.11322	-0.113000	0.14837	0.007000	0.17678	0.000000	0.08366	0.702000	0.34203	0.4936:0.0:0.5064:0.0	12.503	0.55307	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5327.68	97	chr15	88858385	.	G	C	5327.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.255;DP=1899;ExcessHet=0.3300;FS=0.775;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=-2.300e-02;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,68:136:99:1|0:88858384_T_G:1940,0,2651:88858384	18	0	3	0
chr15	89333605	89333605	-	TGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCA:p.Q55_P56insQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:31,27,0,0:58:99:927,0,1132,1021,1213,2234,1021,1213,2234,2234	8	0	10	0
chr15	89333597	89333605	TGCTGCTGC	-	exonic	POLG	.	nonframeshift deletion	POLG:NM_001126131:exon2:c.150_158del:p.Q53_Q55del	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	.	.	.	.	.	.	.	.	.	.	203057	Inborn_genetic_diseases|not_specified|Hereditary_spastic_paraplegia|POLG-related_disorder|Progressive_sclerosing_poliodystrophy|not_provided|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|Mitochondrial_DNA_depletion_syndrome_1	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:CN180166|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726|MedGen:C3661900|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:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0022	0.0012	0.0025	0.0006	0.0027	0.0018	0.0033	0.0014683	227	154602	rs756833779	0.0024	0.0024	0.0024	0.0024	0.0035	0.0024	0.0023	0.0026	0.0025	0.0014	0.0014	7.735e-05	0.0020	0.0003	0.0035	0.0026	0.0027	0.0024	0.0021	0.0021	0.0021	0.0021	0.0031	0.0019	0.0019	0.0024	0.0023	0.0015	0	0.0022	0.0003	0.0031	0.0002	0.0034	0.0027	0.0024	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:31,27,0,0:58:99:927,0,1132,1021,1213,2234,1021,1213,2234,2234	8	0	10	0
chr15	89333605	89333605	-	TGCTGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCAGCA:p.Q55_P56insQQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:31,27,0,0:58:99:927,0,1132,1021,1213,2234,1021,1213,2234,2234	8	0	10	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	2/2:0,0,53:53:99:.:.:2336,2336,2336,161,161,0	0	0	0	0
chr15	99712514	99712519	CAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1033_1038del:p.Q351_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:49,44,0,0:93:99:1504,0,1911,1652,2045,3697,1652,2045,3697,3697	8	2	8	0
chr15	99712505	99712519	CAGCAGCAGCAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1024_1038del:p.Q348_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	3207195	MEF2A-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0163	0.0020	0.0084	0	0.0006	0.0040	0.0093	0.0378	0.0001537	4	26028	rs748617871	0.0057	0.0054	0.0048	0.0066	0.0328	0.0056	0.0056	0.0318	0.0313	0.0011	0.0209	0.0009	0.0019	0.0015	0.0269	0.0036	0.0059	0.0328	0.0056	0.0056	0.0050	0.0061	0.0227	0.0052	0.0051	0.0192	0.0179	0.0014	0	0.0195	0.0003	0.0010	0.0019	0.0510	0.0048	0.0072	0.0227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:49,44,0,0:93:99:1504,0,1911,1652,2045,3697,1652,2045,3697,3697	8	2	8	0
chr15	99712517	99712519	CAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1036_1038del:p.Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:49,44,0,0:93:99:1504,0,1911,1652,2045,3697,1652,2045,3697,3697	8	2	8	0
chr15	100456011	100456011	T	C	exonic	CERS3	.	nonsynonymous SNV	CERS3:NM_001378789:exon11:c.A881G:p.H294R	Ichthyosis, congenital, autosomal recessive 9, Autosomal recessive	.	439	1045	36	2	0	40	0.0187793	.	.	1168314	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.33	T	0.004	B	0.003	B	0.049	N	1.000	N	-0.695	N	-1.87	D	-1.006	T	0.045	T	0.2	0.547	6.959	5.66	2.157	1.967	12.284	0.237	.	0.0024	0.0185703	0.0103	0.0053	0.0556	0.0111	0	0.0012	0.0044	0.0221	0.0103362	1598	154602	rs114065539	0.0045	0.0045	0.0042	0.0048	0.0610	0.0044	0.0044	0.0591	0.0583	0.0038	0.0610	0.0020	0.0104	0	0.0096	0.0008	0.0071	0.0226	0.0082	0.0082	0.0073	0.0091	0.0491	0.0078	0.0076	0.0462	0.0450	0.0049	0	0.0491	0.0017	0.0118	0	0.0034	0.0012	0.0137	0.0236	0.322	0.13479	T	0.304	0.20100	T	0.004	0.12183	B	0.003	0.08700	B	0.049068	0.23194	N	0.463226	1	0.08975	N	-0.205	0.04094	N	-1.87	0.84415	D	-1.04	0.27259	N	0.13	0.12484	-1.0063	0.28065	T	0.045	0.19518	T	10	0.004370272	0.00089	T	.	.	.	0.237	0.54074	.	.	.	.	0.24044158694867285	0.23958	0.155856096555	0.17590	0.428422182798	0.28993	T	0.178777	0.52954	T	-0.444213	0.01222	T	-0.362179	0.37800	T	0.014153291741859	0.00277	T	0.158484	0.01410	T	0.10032456	0.23688	0.09860937	0.23514	0.10527182	0.24889	0.09860937	0.23514	-2.74	0.07645	T	0.10677460984451233	0.08618	0.076	0.05756	B	.;.;.	.;.;.	2.400406	0.30838	18.56	0.87877597731952883	0.17549	0.31874	0.24446	N	AEFGBI	0.077620	0.15643	N	-0.56008305979443	0.20168	1.061251	-0.36937976478449	0.25915	1.428153	0.0952573484991105	0.16223	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	5.66	0.87293	2.151000	0.41888	6.209000	0.54989	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.694000	0.33958	0.0:0.0:0.0:1.0	12.284	0.54102	970	0.06235	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1429	5162.03	108	chr15	100456011	.	T	C	5162.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.319e+00;DP=1107;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=0.236;SOR=0.699	GT:AD:DP:GQ:PL	0/1:37,42:79:99:913,0,879	15	0	6	0
chr15	101024824	101024824	G	A	exonic	LRRK1	.	nonsynonymous SNV	LRRK1:NM_024652:exon16:c.G2089A:p.V697I,	.	.	9	1502	9	2	0	13	0.00430892	.	.	714308	not_provided|LRRK1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.13	T	0.954	P	0.58	P	0.000	D	1.000	D	1.5	L	-1.14	T	-0.185	T	0.431	T	0.357	5.596	35	5.11	2.360	9.649	18.543	0.329	0.0553716904906	0.0037	0.00199681	0.0042	0.0011	0.0016	0.0002	0.0003	0.0052	0.0033	0.0077	0.0041267	638	154602	rs141102052	0.0050	0.0050	0.0049	0.0051	0.0071	0.0049	0.0049	0.0066	0.0065	0.0006	0.0013	0.0182	7.557e-05	0.0006	0.0019	0.0053	0.0046	0.0071	0.0033	0.0033	0.0036	0.0030	0.0054	0.0031	0.0030	0.0048	0.0046	0.0009	0	0.0010	0.0161	0.0002	0.0005	0	0.0052	0.0019	0.0054	0.08	0.33585	T	0.018	0.59732	D	0.954	0.54400	P	0.58	0.50189	P	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	1.72	0.44442	L	-1.14	0.77843	T	-0.84	0.22944	N	0.49	0.52386	-0.1847	0.78062	T	0.431	0.77310	T	10	0.013418198	0.00285	T	0.055372	0.66211	D	0.329	0.65126	.	.	0.910121045679	0.90922	0.6598390887673445	0.65920	1.07412071939	0.76914	0.552732050419	0.46243	T	0.023773	0.18090	T	-0.273864	0.11329	T	-0.162437	0.58131	T	0.0485136249371543	0.05235	T	0.913209	0.69058	D	0.20210762	0.42244	0.16487257	0.38171	0.20210762	0.42244	0.16487257	0.38171	-6.573	0.50846	T	.	.	0.093	0.14201	B	.	.	5.001371	0.82982	27.9	0.99901548711944554	0.97350	0.96672	0.70327	D	AEFBCI	0.854361	0.77139	D	0.634475667438432	0.75368	6.293462	0.675232783454419	0.80501	7.313228	0.99999999999998	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.11	5.11	0.69188	9.924000	0.98795	11.771000	0.95863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.543	0.90987	855	0.34697	Roc 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	1434.98	34	chr15	101024824	.	G	A	1434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=800;ExcessHet=0.0000;FS=0.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=1.32;SOR=0.624	GT:AD:DP:GQ:PL	0/1:51,60:111:99:1449,0,1049	20	0	1	0
chr15	101027707	101027707	G	A	exonic	LRRK1	.	nonsynonymous SNV	LRRK1:NM_024652:exon19:c.G2596A:p.D866N,	.	.	9	1491	21	1	0	23	0.00765391	.	.	1645900	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.38	T	0.001	B	0.001	B	0.009	N	1.000	N	1.1	L	-0.64	T	-0.996	T	0.172	T	0.043	2.129	13.07	0.155	-0.168	3.000	6.277	0.098	0.0251053380935	0.0013	0.000599042	0.0020	0.0008	0.0021	0	0	0.0023	0.0077	0.0026	0.001533	237	154602	rs56003881	0.0023	0.0023	0.0023	0.0024	0.0028	0.0023	0.0022	0.0025	0.0025	0.0003	0.0013	0.0001	0.0001	0.0001	0.0019	0.0026	0.0024	0.0028	0.0015	0.0015	0.0015	0.0015	0.0026	0.0014	0.0013	0.0023	0.0022	0.0005	0.0055	0.0008	0	0	0	0	0.0026	0.0009	0.0023	0.209	0.19710	T	0.011	0.64786	D	0.001	0.07471	B	0.001	0.04355	B	0.009444	0.30355	N	0.335804	0.964108	0.25996	N	1.39	0.34934	L	-0.64	0.72125	T	-1.4	0.34596	N	0.247	0.27910	-0.9964	0.30919	T	0.172	0.51484	T	10	0.01001507	0.00224	T	0.025105	0.48090	D	0.098	0.28162	.	.	0.697069699389	0.69445	0.17080541795461415	0.17000	0.389754045983	0.40207	0.315394818783	0.12723	T	0.103028	0.41130	T	-0.545726	0.00309	T	-0.561289	0.16256	T	0.0259379484922447	0.01398	T	0.69603	0.30552	T	0.04253502	0.06467	0.03657438	0.03131	0.04253502	0.06467	0.03657438	0.03131	-4.671	0.33051	T	.	.	0.071	0.03736	B	.	.	1.753601	0.22309	15.57	0.97687908812560431	0.35358	0.85425	0.44556	D	AEFDBCI	0.300924	0.40958	N	-0.792013391756165	0.13518	0.6664582	-0.741333180526867	0.15935	0.8405747	0.999973752631467	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	4.35	0.155	0.14200	3.168000	0.50501	1.813000	0.28978	-0.677000	0.04263	1.000000	0.71638	0.906000	0.28050	0.042000	0.14466	0.2326:0.1375:0.6299:0.0	6.277	0.20193	854	0.34840	C-terminal of Roc (COR) 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	1322.98	34	chr15	101027707	.	G	A	1322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.609;DP=815;ExcessHet=0.0000;FS=1.478;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=1.31;SOR=0.910	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1337,0,1530	20	0	1	0
chr16	377699	377699	C	G	exonic	PGAP6	.	nonsynonymous SNV	PGAP6:NM_021259:exon2:c.G271C:p.A91P,	.	.	398	1086	36	2	0	40	0.0180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.001	B	0.002	B	0.197	N	1.000	N	-0.69	N	1.98	T	-0.968	T	0.010	T	0.071	0.102	4.550	-1.31	-0.269	0.367	4.711	0.011	.	0.0069	0.00379393	0.0154	0.0021	0.0153	0	0.0367	0.0191	0.0244	0.0141	0.0073802	1141	154602	rs150713114	0.0095	0.0095	0.0093	0.0097	0.0123	0.0094	0.0093	0.0117	0.0114	0.0012	0.0072	0.0352	0	0.0150	0.0120	0.0090	0.0110	0.0123	0.0074	0.0074	0.0074	0.0074	0.0100	0.0070	0.0069	0.0088	0.0085	0.0018	0	0.0082	0.0311	0	0.0104	0.0136	0.0094	0.0095	0.0100	0.369	0.11586	T	0.294	0.20745	T	0.001	0.07471	B	0.002	0.06944	B	0.197401	0.16688	N	0.566712	1	0.08975	N	-1.295	0.00719	N	1.98	0.21865	T	0.55	0.02721	N	0.085	0.06190	-0.9677	0.37673	T	0.010	0.03537	T	10	0.0029409826	0.00047	T	.	.	.	0.011	0.01250	.	.	0.0401082797425	0.02173	0.3079676341029533	0.30709	0.0497898335359	0.05457	0.269551903009	0.06083	T	0.001898	0.01308	T	-0.677833	0.00049	T	-0.736048	0.04059	T	0.000731414331925939	0.00007	T	0.424058	0.11326	T	0.023681097	0.01129	0.043248724	0.05338	0.023681097	0.01129	0.043248724	0.05338	-2.803	0.08211	T	.	.	0.059	0.00730	B	.	.	-0.578352	0.01631	0.113	0.43658381587674372	0.03302	0.00631	0.02773	N	AEFBI	0.051689	0.09157	N	-2.19746443301535	0.00078	0.003329799	-2.11476963220257	0.00173	0.007615846	0.0894516686923955	0.16085	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.55	-1.31	0.08749	0.711000	0.25436	1.859000	0.29309	-1.969000	0.00470	0.032000	0.20554	0.999000	0.35428	0.000000	0.00833	0.147:0.3094:0.4389:0.1047	4.711	0.12254	798	0.45050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4491.68	104	chr16	377699	.	C	G	4491.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.100e-02;DP=2018;ExcessHet=0.3300;FS=2.754;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=0.242;SOR=0.837	GT:AD:DP:GQ:PL	0/1:73,52:125:99:1380,0,1953	18	0	3	0
chr16	661983	661983	C	G	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon32:c.C3957G:p.S1319R,	.	.	427	1081	14	0	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.698	P	0.361	B	0.029	U	1.000	N	1.5	L	0.77	T	-0.938	T	0.093	T	0.281	2.135	13.10	-2.12	-0.697	-0.093	10.558	0.107	.	0.0002	0.00199681	0.0011	0.0001	8.666e-05	0	0	0.0002	0.0023	0.0070	0.0009638	149	154602	rs200652650	0.0006	0.0006	0.0003	0.0009	0.0076	0.0005	0.0005	0.0072	0.0070	0	0	0	0	0	0.0024	0.0001	0.0006	0.0076	0.0003	0.0003	0.0002	0.0005	0.0075	0.0003	0.0002	0.0055	0.0049	2.406e-05	0	0	0	0	0	0	0.0002	0	0.0075	0.096	0.31088	T	0.013	0.63109	D	0.589	0.41805	P	0.361	0.43233	B	0.028611	0.25577	U	0.381197	1	0.08975	N	1.655	0.42436	L	0.77	0.49642	T	-1.74	0.42191	N	0.429	0.46835	-0.9379	0.42947	T	0.093	0.35283	T	10	0.004832983	0.00103	T	.	.	.	0.107	0.30369	0.503	0.59615	0.208000267992	0.20380	0.354195123935592	0.35333	0.572662705964	0.53348	0.507903337479	0.39928	T	0.030551	0.21631	T	-0.522044	0.00428	T	-0.518231	0.20473	T	0.0838651167545904	0.10474	T	0.867113	0.56785	D	0.08741519	0.20355	0.08956711	0.20952	0.08741519	0.20355	0.08956711	0.20951	-4.156	0.26112	T	.	.	0.303	0.58657	B	.;.	.;.	0.660897	0.10293	7.026	0.99175016998645982	0.54498	0.13701	0.18004	N	AEFGBI	0.120640	0.23491	N	-0.802832804572844	0.13237	0.6507176	-0.948157214480581	0.10965	0.5557462	0.950214328996958	0.27884	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.18	-2.12	0.06766	-0.073000	0.11428	-0.945000	0.06834	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.0:0.6088:0.0:0.3912	10.558	0.44318	654	0.62520	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1033.98	40	chr16	661983	.	C	G	1033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.295e+00;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=-1.880e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:40,40:80:99:1048,0,1063	20	0	1	0
chr16	730545	730545	C	T	exonic	CIAO3	.	nonsynonymous SNV	CIAO3:NM_022493:exon11:c.G1303A:p.A435T	.	.	412	1098	12	0	0	12	0.00543478	.	.	740344	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.021	B	0.017	B	0.951	N	1.000	N	1.1	L	0.95	T	-1.005	T	0.063	T	0.099	1.049	9.285	2.59	1.072	0.051	6.361	0.039	0.013288295674	0.0011	0.00219649	0.0010	0.0031	0.0003	0	0	0.0002	0.0023	0.0041	0.0008667	134	154602	rs144802616	0.0005	0.0005	0.0003	0.0006	0.0047	0.0004	0.0004	0.0044	0.0042	0.0028	8.945e-05	0	0	0	0.0024	0.0001	0.0005	0.0047	0.0011	0.0011	0.0010	0.0012	0.0048	0.0010	0.0009	0.0033	0.0028	0.0029	0	0.0003	0	0.0002	0	0	0.0003	0	0.0048	0.134	0.33923	T	0.223	0.25987	T	0.021	0.18474	B	0.017	0.18140	B	0.951100	0.07656	N	1.020300	0.999989	0.18198	N	.	.	.	0.95	0.43279	T	1.04	0.01332	N	0.063	0.03502	-1.0046	0.28577	T	0.063	0.26172	T	10	0.004642874	0.00097	T	0.013288	0.32578	T	0.039	0.10176	.	.	0.305086939656	0.30112	0.31218571573009907	0.31131	0.158669264731	0.17909	0.314992278814	0.12662	T	0.04542	0.27117	T	-0.599468	0.00147	T	-0.633878	0.10122	T	0.00635312872298432	0.00071	T	0.340966	0.07383	T	0.06341219	0.13350	0.08249623	0.18831	0.06341219	0.13350	0.08249623	0.18831	-3.985	0.27627	T	.	.	0.067	0.02488	B	.;.;.	.;.;.	1.211040	0.16041	12.28	0.98273020789092069	0.39777	0.13750	0.18031	N	AEFBHCI	0.073590	0.14726	N	-0.796551659698061	0.13400	0.6598177	-0.817076902808489	0.14082	0.7339586	0.999898122986667	0.45129	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.94	2.59	0.30091	0.969000	0.28967	1.078000	0.23865	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6189:0.0:0.3811	6.361	0.20634	650	0.62973	Iron hydrogenase, small subunit|Iron hydrogenase, small subunit;.;.	.	.	.	.	.	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	3621.98	37	chr16	730545	.	C	T	3621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.501;DP=1011;ExcessHet=0.0000;FS=0.988;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=0.273;SOR=0.610	GT:AD:DP:GQ:PL	0/1:102,147:249:99:3636,0,2175	20	0	1	0
chr16	1917981	1917981	-	G	exonic	HS3ST6	.	frameshift insertion	HS3ST6:NM_001009606:exon1:c.342dupC:p.D115Rfs*8,	.	.	404	1116	2	0	0	2	0.000895255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.000998403	0.0052	0.0023	0.0062	0	0	0.0092	0.0059	0.0007	0.0005763	15	26028	rs573199046	0.0022	0.0022	0.0022	0.0022	0.0025	0.0021	0.0021	0.0024	0.0024	0.0003	0.0016	0.0030	0	0.0008	0.0014	0.0025	0.0019	0.0006	0.0018	0.0018	0.0015	0.0022	0.0029	0.0016	0.0016	0.0026	0.0025	0.0003	0	0.0023	0.0040	0	0.0007	0	0.0029	0.0014	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1467.94	36	chr16	1917981	.	C	CG	1467.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.800e-02;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=-9.900e-02;SOR=0.649	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1482,0,1241	20	0	1	0
chr16	2762530	2762530	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.C2002T:p.R668C,	.	.	.	.	.	.	.	.	.	.	.	2776544	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.765	P	0.000	D	1.000	N	0.805	L	1.69	T	-0.949	T	0.071	T	0.638	0.143	4.770	-2.22	-0.688	-0.169	17.758	0.200	0.0133307189736	.	0.000199681	8.275e-06	0	0	0	0	0	0	6.073e-05	1.29e-05	2	154602	rs545913127	2.121e-05	2.189e-05	2.178e-05	2.063e-05	0.0003	1.52e-05	1.324e-05	6.092e-05	2.521e-05	5.974e-05	2.236e-05	0	0	0	0.0003	2.068e-05	3.312e-05	1.159e-05	1.317e-05	1.314e-05	1.289e-05	1.347e-05	2.945e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.945e-05	0	0	.	.	.	0.003	0.83351	D	0.999	0.77913	D	0.765	0.56630	P	0.000022	0.55875	D	0.000000	1	0.08975	N	0.695	0.17993	N	1.69	0.32722	T	-3.35	0.66436	D	0.465	0.50146	-0.9490	0.41143	T	0.071	0.29066	T	10	0.13968742	0.26558	T	0.013331	0.32649	T	0.200	0.48430	0.331	0.31681	0.385249989106	0.38142	0.20187262382521715	0.20104	.	.	0.81319475174	0.83983	D	0.557745	0.85141	D	-0.200765	0.20694	T	-0.344014	0.39890	T	0.320484429597855	0.25842	T	0.872513	0.61998	D	0.68880594	0.77447	0.25394285	0.51050	0.68880594	0.77448	0.25394285	0.51049	-10.53	0.77019	D	.	.	0.490	0.64108	A	.;.;.	.;.;.	2.305199	0.29499	18.14	0.95453364933313212	0.26976	0.15484	0.18934	N	AEFDBHCI	0.176845	0.30407	N	-0.473796639309791	0.22942	1.228533	-0.666464130870375	0.17801	0.9481896	0.999970020219633	0.50053	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.91	-2.22	0.06560	1.098000	0.30612	-0.150000	0.11428	0.599000	0.40250	0.118000	0.23139	0.000000	0.08366	0.300000	0.24500	0.7716:0.2284:0.0:0.0	17.758	0.88363	789	0.46346	Spt5 C-terminal domain;Spt5 C-terminal domain;Spt5 C-terminal 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	3118.98	33	chr16	2762530	.	C	T	3118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.74;DP=1202;ExcessHet=0.0000;FS=0.469;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-1.370e-01;SOR=0.733	GT:AD:DP:GQ:PL	0/1:127,116:243:99:3133,0,2993	20	0	1	0
chr16	3602235	3602235	C	T	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon4:c.G833A:p.R278Q,	Fanconi anemia, complementation group P, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	465722	not_provided|Fanconi_anemia_complementation_group_P|Fanconi_anemia	MedGen:C3661900|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.009	B	0.004	B	0.534	N	1.000	N	0.09	N	5.12	T	-0.927	T	0.002	T	0.021	-0.773	0.750	-5.38	-1.037	0.298	5.120	0.024	0.0343296478226	7.7e-05	0.000399361	0.0007	0	0.0003	0	0	0.0003	0.0033	0.0038	0.0005757	89	154602	rs201192909	0.0003	0.0003	0.0002	0.0005	0.0035	0.0003	0.0003	0.0032	0.0031	8.961e-05	0.0002	0	2.519e-05	0	0.0014	0.0001	0.0003	0.0035	0.0002	0.0002	0.0002	0.0003	0.0029	0.0002	0.0001	0.0018	0.0014	0	0	6.535e-05	0	0.0004	0	0	0.0002	0.0009	0.0029	0.916	0.02332	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.534142	0.11606	N	0.801221	1	0.08975	N	0	0.06538	N	5.12	0.01218	T	0.33	0.03889	N	0.122	0.11340	-0.9271	0.44559	T	0.002	0.00676	T	10	0.006465614	0.00146	T	0.03433	0.55601	D	0.024	0.04979	.	.	0.0611884634855	0.05136	0.07861405720206786	0.07796	0.062198665946	0.06926	0.205301433802	0.00627	T	0.024544	0.18527	T	-0.723764	0.00026	T	-0.813886	0.01580	T	0.0050743166769389	0.00055	T	0.493751	0.15260	T	0.0105818305	0.00008	0.01879076	0.00066	0.0105818305	0.00008	0.01879076	0.00066	-2.72	0.07472	T	.	.	0.075	0.05535	B	.	.	1.334857	0.17408	13.14	0.77479374053069294	0.11893	0.03841	0.09191	N	AEFDBI	0.025755	0.01818	N	-1.56585813496365	0.01444	0.0629978	-1.54202199592195	0.02032	0.09285101	0.0137463962226935	0.12505	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.83	-5.38	0.02465	0.266000	0.18300	.	.	-1.584000	0.00915	0.467000	0.26699	0.005000	0.19230	0.033000	0.13494	0.0958:0.1686:0.0971:0.6385	5.120	0.14187	588	0.69043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2297.98	34	chr16	3602235	.	C	T	2297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.996;SOR=0.726	GT:AD:DP:GQ:PL	0/1:92,89:181:99:2312,0,2134	20	0	1	0
chr16	3657256	3657256	C	T	exonic	DNASE1	.	nonsynonymous SNV	DNASE1:NM_005223:exon7:c.C619T:p.R207C	.	.	420	1096	6	0	0	6	0.00272975	.	.	247118	not_provided|not_specified|Systemic_lupus_erythematosus	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.47	M	1.15	T	0.826	D	0.791	D	0.922	4.417	23.4	5.07	2.364	4.555	17.470	0.598	.	0.0011	0.00359425	0.0013	0.0017	0.0011	0.0007	0.0002	0.0007	0.0111	0.0034	0.0012354	191	154602	rs148373909	0.0013	0.0013	0.0011	0.0014	0.0034	0.0012	0.0012	0.0031	0.0029	0.0029	0.0011	3.826e-05	0.0006	0.0002	0.0028	0.0012	0.0014	0.0034	0.0016	0.0016	0.0017	0.0015	0.0050	0.0015	0.0014	0.0034	0.0029	0.0023	0	0.0022	0	0.0002	0	0.0068	0.0012	0.0028	0.0050	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.865	0.95877	H	-1.56	0.81815	D	-7.9	0.96191	D	0.586	0.60664	0.826	0.94733	D	0.791	0.92931	D	10	0.023278147	0.00604	T	.	.	.	0.598	0.84074	.	.	0.891967515596	0.89089	0.9168392154333195	0.91658	0.0304920833542	0.03150	0.562246441841	0.47584	T	0.843099	0.96358	D	0.105533	0.64884	D	0.377025	0.91322	D	0.204867696822105	0.20682	T	0.933907	0.79612	D	0.89757496	0.91167	0.7094225	0.82862	0.89757496	0.91169	0.7094225	0.82863	-11.092	0.80160	D	.	.	0.271	0.51262	B	.;.;.;.	.;.;.;.	5.215172	0.87515	29.3	0.99934680761057881	0.99535	0.90920	0.52512	D	AEFDGBHCI	0.697500	0.65549	D	0.794916553693268	0.85786	8.681413	0.690688715814908	0.81669	7.581621	0.999999999999995	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.07	5.07	0.68106	4.414000	0.59555	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.439000	0.27649	0.0:1.0:0.0:0.0	17.470	0.87538	600	0.68026	Endonuclease/exonuclease/phosphatase;Endonuclease/exonuclease/phosphatase;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3050.11	36	chr16	3657256	.	C	T	3050.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.59;DP=917;ExcessHet=0.1072;FS=0.491;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=0.594;SOR=0.762	GT:AD:DP:GQ:PL	0/1:48,62:110:99:1586,0,1178	19	0	2	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	1/1:2,188,0:190:99:.:.:6073,531,0,6079,562,6109	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	0/1:122,50:211:55:55,0,2023	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	0/1:4,2,0:6:35:.:.:35,0,93,47,99,146	8	2	7	3
chr16	21031116	21031116	T	A	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon37:c.A5230T:p.I1744F	.	.	427	1072	22	1	0	24	0.0110701	.	.	2807712	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.995	D	0.816	P	0.000	D	1.000	D	3.105	M	0.96	T	-0.423	T	0.219	T	0.851	3.444	17.66	5.65	2.137	4.148	15.865	0.334	0.0373276557389	0.0032	0.00259585	0.0044	0.0008	0.0034	0.0001	0.0011	0.0050	0.0066	0.0084	0.0041267	638	154602	rs148202152	0.0033	0.0033	0.0030	0.0035	0.0144	0.0032	0.0032	0.0119	0.0110	0.0008	0.0040	0.0006	5.038e-05	0.0017	0.0144	0.0031	0.0038	0.0077	0.0032	0.0032	0.0033	0.0031	0.0091	0.0030	0.0029	0.0070	0.0062	0.0006	0	0.0056	0.0003	0	0.0007	0.0272	0.0044	0.0066	0.0091	0.004	0.65419	D	.	.	.	0.995	0.67487	D	0.816	0.58888	P	0.000001	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	0.96	0.42888	T	-3.3	0.65858	D	0.855	0.85132	-0.4226	0.71306	T	0.219	0.58201	T	10	0.023178488	0.00599	T	0.037328	0.57547	D	0.334	0.65620	.	.	0.343788945184	0.33981	0.6633433488230847	0.66271	0.57321118132	0.53386	0.52144408226	0.41829	T	0.343599	0.71223	T	-0.159217	0.26882	T	0.00406961	0.70599	D	0.0416310597211526	0.03987	T	0.945305	0.79188	D	0.52613527	0.68610	0.47302616	0.69453	0.52613527	0.68611	0.47302616	0.69453	-8.304	0.63122	D	.	.	0.540	0.66364	A	.	.	3.442284	0.47889	22.5	0.98258083290942377	0.39639	0.96442	0.69160	D	AEFBI	0.674860	0.64044	D	0.740335135973423	0.82276	7.722354	0.70025386183693	0.82396	7.757018	0.0272882980749738	0.13764	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	2.828000	0.47822	3.455000	0.38473	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.865	0.78840	377	0.83897	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2026.98	35	chr16	21031116	.	T	A	2026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.265;DP=876;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=-4.570e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/1:108,85:193:99:2041,0,2801	20	0	1	0
chr16	21403846	21403846	A	G	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	.	.	1.000	N	.	.	1.8	T	-1.011	T	0.058	T	0.213	0.879	8.565	.	0.064	.	.	0.021	0.000460346722041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.632e-05	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	0.02381	58.73	2	chr16	21403846	.	A	G	58.73	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.420e-01;DP=130;ExcessHet=0.0000;FS=4.771;InbreedingCoeff=-0.0302;MLEAC=1;MLEAF=0.024;MQ=32.55;MQRankSum=1.83;QD=9.79;ReadPosRankSum=1.28;SOR=0.039	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:21403846_A_G:72,0,127:21403846	20	0	1	0
chr16	21835865	21835865	G	A	exonic	NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB4:NM_001310148:exon8:c.C2522T:p.A841V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.75	P	0.083	B	.	.	.	.	.	.	1.52	T	-0.869	T	0.086	T	0.138	1.697	11.63	.	.	.	.	0.039	0.0678359469079	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1321866182	8.311e-05	7.99e-05	5.489e-05	0.0001	0.0003	6.26e-05	5.51e-05	0.0002	0.0001	0	4.406e-05	0	0.0003	0	0	6.514e-05	3.885e-05	0.0002	0	3.502e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.002	0.72154	D	0.035	0.52389	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.99	0.21666	T	-0.44	0.14588	N	0.119	0.10911	-0.8693	0.50582	T	0.086	0.33354	T	2	0.13960382	0.26542	T	0.067836	0.70279	D	0.047	0.12962	.	.	0.476522311808	0.47281	2.401668410400954E-5	0.00002	.	.	.	.	.	0.014354	0.12236	T	-0.561023	0.00250	T	-0.661679	0.08153	T	0.0461968378221583	0.04819	T	0.664234	0.27311	T	0.05389627	0.10264	0.0878834	0.20457	0.05389627	0.10263	0.0878834	0.20456	-9.751	0.72408	D	.	.	0.926	0.84721	P	.	.	1.706789	0.21738	15.33	0.99662834643627951	0.78074	0.00143	0.00871	N	AEFDBI	0.078109	0.15754	N	0.508518132672783	0.67592	5.10225	0.148958540740347	0.47087	2.94425	7.7445175094361E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.182000	0.16710	-1.284000	0.05818	0.183000	0.17812	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	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	0.02381	908.98	33	chr16	21835865	.	G	A	908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.05;DP=800;ExcessHet=0.0000;FS=3.751;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.26;MQRankSum=-2.510e-01;QD=8.04;ReadPosRankSum=-1.608e+00;SOR=1.088	GT:AD:DP:GQ:PL	0/1:69,44:113:99:923,0,1501	20	0	1	0
chr16	21843705	21843705	C	T	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon3:c.G338A:p.R113H	.	.	604	909	9	0	0	9	0.00492611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.997	D	0.912	D	.	.	.	.	.	.	0.86	T	-0.608	T	0.209	T	0.338	1.753	11.82	0.589	0.604	0.984	.	0.080	0.00712021450829	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs201739449	0.0040	0.0055	0.0039	0.0041	0.0060	0.0039	0.0039	0.0056	0.0054	0.0006	0.0012	0.0015	0.0001	0.0181	0.0036	0.0038	0.0042	0.0060	0.0027	0.0030	0.0026	0.0028	0.0025	0.0023	0.0021	0.0018	0.0016	0.0003	0	0.0009	0.0014	0	0.0187	0	0.0025	0.0044	0.0011	0.168	0.23007	T	0.204	0.35582	T	0.997	0.70673	D	0.912	0.64797	D	.	.	.	.	.	.	.	.	.	.	0.86	0.46777	T	-1.06	0.50175	N	0.149	0.19055	-0.6078	0.64495	T	0.209	0.56798	T	6	0.11830032	0.22361	T	0.00712	0.18869	T	0.080	0.23350	.	.	0.132336055621	0.12781	0.011986005434105284	0.01157	.	.	.	.	.	0.013266	0.11507	T	-0.155834	0.27404	T	-0.461621	0.26422	T	0.0469442462948734	0.04955	T	0.774123	0.40598	T	0.045825787	0.07568	0.07042712	0.14962	0.045825787	0.07567	0.07042712	0.14962	-5.158	0.38512	T	.	.	0.293	0.52442	B	.;.;.;.	.;.;.;.	1.393913	0.18068	13.53	0.99779161435595154	0.86606	0.01087	0.04005	N	AEFI	0.057859	0.10811	N	-0.674499663486755	0.16750	0.8561534	-0.911836786858661	0.11814	0.6041934	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	0.989000	0.29229	-7.138000	0.01222	0.190000	0.17853	0.003000	0.16062	0.000000	0.08366	0.008000	0.08271	.	.	.	607	0.67291	.;.;.;.	.	.	.	.	.	Uncertain significance	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	99.35	14	chr16	21843705	.	C	T	99.35	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.37;DP=248;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0265;MLEAC=1;MLEAF=0.025;MQ=22.67;MQRankSum=-9.210e-01;QD=12.42;ReadPosRankSum=0.414;SOR=1.179	GT:AD:DP:GQ:PL	0/1:3,5:8:59:113,0,59	19	0	1	1
chr16	22814764	22814764	G	A	exonic	HS3ST2	.	nonsynonymous SNV	HS3ST2:NM_006043:exon1:c.G154A:p.A52T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.001	B	0.0	B	0.018	N	0.590	N	0.69	N	0.94	T	-1.026	T	0.060	T	0.125	1.239	10.03	4.37	1.961	7.465	8.312	0.078	0.0319280072067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.377e-06	3.42e-06	0	2.769e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	0.09543	T	0.525	0.10281	T	0.001	0.07471	B	0.0	0.01387	B	0.017592	0.27685	N	0.363026	0.589601	0.31031	N	1.245	0.31408	L	0.94	0.43672	T	-0.7	0.19933	N	0.118	0.10769	-1.0255	0.21919	T	0.060	0.25054	T	10	0.14571035	0.27636	T	0.031928	0.53888	D	0.078	0.22779	.	.	0.6862080656	0.68352	0.23500737149703788	0.23415	1.0185735783	0.75027	0.652140855789	0.60289	T	0.029801	0.21272	T	-0.257599	0.13183	T	-0.6078	0.12165	T	0.304473072290421	0.25187	T	0.579042	0.20891	T	0.08785469	0.20474	0.117363624	0.28332	0.08785469	0.20474	0.117363624	0.28332	-4.771	0.34252	T	.	.	0.069	0.03197	B	.	.	2.228517	0.28446	17.80	0.97769124500493254	0.35857	0.90818	0.52318	D	AEFDBHCI	0.420723	0.48743	N	-0.176940702094946	0.34096	1.942101	0.00561394100278144	0.39975	2.378455	0.999999926892038	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	4.37	4.37	0.51830	3.037000	0.49465	5.516000	0.48810	0.676000	0.76740	0.220000	0.24536	1.000000	0.68203	0.789000	0.37270	0.1097:0.0:0.8903:0.0	8.312	0.31238	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	1615.98	38	chr16	22814764	.	G	A	1615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.912;DP=847;ExcessHet=0.0000;FS=2.189;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=1.58;SOR=0.913	GT:AD:DP:GQ:PL	0/1:65,68:133:99:1630,0,1414	20	0	1	0
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	807.49	39	chr16	29485668	.	C	*,G	807.49	.	AC=12,2;AF=0.286,0.048;AN=42;BaseQRankSum=-3.277e+00;DP=2501;ExcessHet=14.4320;FS=3.279;InbreedingCoeff=-0.5000;MLEAC=12,2;MLEAF=0.286,0.048;MQ=29.15;MQRankSum=-1.177e+00;QD=0.44;ReadPosRankSum=-2.008e+00;SOR=0.370	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,23,0:117:99:0|1:29485610_ACACACTC_A:307,0,3504,592,3566,4157:29485610	7	0	12	0
chr16	29987132	29987132	G	A	exonic	TAOK2	.	nonsynonymous SNV	TAOK2:NM_016151:exon16:c.G2860A:p.G954S	.	.	.	.	.	.	.	.	.	.	.	1402791	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.944	P	0.229	B	0.037	N	1.000	D	0.345	N	-0.48	T	-0.680	T	0.160	T	0.227	3.317	17.16	5.31	2.499	1.283	14.477	0.079	0.0985251510916	7.7e-05	.	1.767e-05	0	0	0	0	3.151e-05	0	0	1.94e-05	3	154602	rs374422460	4.294e-05	4.515e-05	3.306e-05	5.293e-05	4.979e-05	3.419e-05	3.103e-05	3.916e-05	3.513e-05	3.067e-05	4.91e-05	0	2.522e-05	0	0	4.979e-05	5.041e-05	0	2.629e-05	2.627e-05	2.57e-05	2.69e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.411e-05	0	0	0.0	0.91255	D	0.49	0.29153	T	0.596	0.53183	P	0.051	0.38155	B	0.036903	0.24465	N	0.429012	0.706939	0.81001	D	0.345	0.11182	N	-0.48	0.70950	T	-0.33	0.13805	N	0.19	0.27197	-0.6803	0.61359	T	0.160	0.49430	T	9	0.1413629	0.26861	T	0.098525	0.76956	D	0.079	0.23065	.	.	0.695084422879	0.69246	0.21162039548593203	0.21078	0.386643288285	0.39955	0.721727609634	0.70298	T	0.110948	0.42604	T	-0.138515	0.30127	T	-0.3338	0.41046	T	0.174073817483737	0.18853	T	0.839616	0.51418	T	0.1366028	0.31661	0.23199709	0.48348	0.1366028	0.31661	0.23199709	0.48347	-4.57	0.34086	T	.	.	0.165	0.36966	B	.;.;.	.;.;.	3.210950	0.43707	21.8	0.99782255317829582	0.86867	0.66882	0.33234	D	AEFDBI	0.170567	0.29747	N	-0.0347155797275474	0.40288	2.389993	0.0897052239172711	0.44030	2.692665	0.99967251724517	0.41644	0.706548	0.73137	0	0.653731	0.59785	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	1.086000	0.30464	8.735000	0.78193	0.676000	0.76740	0.808000	0.29825	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	14.477	0.67136	77	0.96778	.;.;.	.	.	.	.	.	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	1259.98	39	chr16	29987132	.	G	A	1259.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=971;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=-1.670e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:49,49:98:99:1274,0,1154	20	0	1	0
chr16	57061497	57061497	G	A	exonic	NLRC5	.	nonsynonymous SNV	NLRC5:NM_001384958:exon29:c.G3862A:p.G1288S	.	.	417	1085	19	1	0	21	0.00958466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.043	B	0.008	B	.	.	1.000	N	0.805	L	5.52	T	-1.011	T	0.031	T	0.346	0.786	8.146	-6.84	-0.983	-0.494	2.167	0.009	.	0.0006	0.00519169	0.0024	0.0002	0.0008	0	0.0002	0.0013	0.0022	0.0114	0.0022251	344	154602	rs140644178	0.0014	0.0014	0.0010	0.0017	0.0097	0.0013	0.0013	0.0092	0.0090	0.0003	0.0013	0.0013	2.519e-05	0	0.0043	0.0008	0.0019	0.0097	0.0012	0.0012	0.0011	0.0014	0.0149	0.0011	0.0010	0.0121	0.0111	0.0001	0	0.0024	0.0006	0	0	0.0034	0.0009	0.0038	0.0149	0.581	0.09430	T	0.763	0.14961	T	0.009	0.15093	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	0.59	0.53943	T	-0.55	0.16799	N	0.108	0.09349	-1.0114	0.26478	T	0.031	0.13418	T	9	0.0045095086	0.00093	T	.	.	.	0.027	0.05988	.	.	0.178374595973	0.17440	0.1994328234203873	0.19860	0.244945792748	0.27014	0.247742697597	0.03533	T	0.002731	0.11287	T	-0.495399	0.00607	T	-0.476421	0.24828	T	0.00213010454997645	0.00022	T	0.740526	0.36808	T	0.032330096	0.03238	0.03416993	0.02437	0.032330096	0.03238	0.03416993	0.02437	-4.083	0.25039	T	.	.	0.091	0.16275	B	.;.;.;.;.	.;.;.;.;.	0.390010	0.07614	4.278	0.93016140442936501	0.22612	0.03277	0.08320	N	ALL	0.039478	0.05739	N	-0.919301168992132	0.10392	0.4963277	-1.11312710605194	0.07449	0.362362	0.999999999999988	0.74766	0.740787	0.97801	0	0.697927	0.68747	0	0.767554	0.98243	0	0.669	0.65921	0	.	.	4.55	-6.84	0.01527	-0.443000	0.06935	-0.487000	0.08883	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.3196:0.3866:0.1737:0.1202	2.167	0.03605	824	0.40336	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2337.11	36	chr16	57061497	.	G	A	2337.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.47;DP=842;ExcessHet=0.1072;FS=0.569;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=0.022;SOR=0.636	GT:AD:DP:GQ:PL	0/1:50,46:96:99:1145,0,1066	19	0	2	0
chr16	66818538	66818538	A	G	exonic	NAE1	.	nonsynonymous SNV	NAE1:NM_001018160:exon7:c.T344C:p.M115T	.	.	.	.	.	.	.	.	.	.	.	2392485	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.986	D	0.756	P	0.000	D	1.000	D	2.685	M	0.99	T	-0.649	T	0.228	T	0.963	4.256	22.2	5.42	2.174	8.795	15.774	0.571	0.0697749295344	.	0.000199681	9.191e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs555207416	5.78e-05	5.883e-05	3.971e-05	7.609e-05	0.0008	4.771e-05	4.392e-05	0.0007	0.0006	3.051e-05	0	0	0	0	0.0002	9.016e-06	3.333e-05	0.0008	5.256e-05	5.251e-05	8.999e-05	1.344e-05	0.0008	2.557e-05	1.83e-05	0.0003	0.0002	0	0	0	0	0	0	0	5.884e-05	0	0.0008	0.003	0.72154	D	0.137	0.79402	T	0.967	0.56408	D	0.697	0.54061	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.125	0.87999	M	0.99	0.41750	T	-4.13	0.77143	D	0.922	0.93018	-0.6491	0.62753	T	0.228	0.59283	T	10	0.4586926	0.59150	T	0.069775	0.70821	D	0.571	0.82573	0.403	0.43408	0.701869083827	0.69928	0.8352999150905557	0.83489	0.72135886601	0.62231	0.719352543354	0.69952	T	0.243452	0.61239	T	0.0266424	0.55274	T	0.173944	0.81642	D	0.714927732944489	0.41443	D	0.952605	0.85148	D	0.6665712	0.76250	0.64289695	0.79130	0.6665712	0.76251	0.64289695	0.79131	-8.422	0.67374	D	.	.	0.652	0.74497	P	.;.;.;.;.;.	.;.;.;.;.;.	4.360122	0.67047	25.0	0.99063045837449337	0.51528	0.99793	0.99505	D	AEFGBI	0.891075	0.82670	D	0.660909590363203	0.77075	6.605688	0.677555971165196	0.80678	7.352501	0.999999289904121	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	8.841000	0.91766	11.291000	0.92027	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.774	0.77975	67	0.97183	.;THIF-type NAD/FAD binding fold;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1441.98	37	chr16	66818538	.	A	G	1441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.528;DP=861;ExcessHet=0.0000;FS=0.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.42;ReadPosRankSum=-5.660e-01;SOR=0.749	GT:AD:DP:GQ:PL	0/1:86,67:153:99:1456,0,1983	20	0	1	0
chr16	66913597	66913597	C	A	exonic	CDH16	.	nonsynonymous SNV	CDH16:NM_001204746:exon7:c.G506T:p.G169V	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.007	B	0.028	B	0.165	N	1.000	N	1.97	M	0.2	T	-0.948	T	0.162	T	0.123	-0.827	0.607	2.38	0.021	0.705	7.273	0.106	0.0188781028527	.	0.00119808	0.0010	0	0	0	0	0	0	0.0074	0.0008279	128	154602	rs577420973	0.0004	0.0004	0.0002	0.0006	0.0065	0.0004	0.0004	0.0060	0.0058	2.987e-05	0	0	0	0	0.0007	1.799e-06	0.0004	0.0065	0.0002	0.0002	0.0001	0.0002	0.0056	0.0001	0.0001	0.0039	0.0034	2.405e-05	0	0	0	0	0	0	0	0.0005	0.0056	0.236	0.20306	T	0.168	0.33442	T	0.003	0.12183	B	0.01	0.19966	B	0.165173	0.17540	N	0.586759	0.999999	0.08975	N	2.35	0.67516	M	0.2	0.60111	T	-1.79	0.45222	N	0.237	0.29774	-0.9475	0.41397	T	0.162	0.49814	T	10	0.006492585	0.00147	T	0.018878	0.41084	T	0.106	0.30130	0.737	0.86978	0.51627217869	0.51271	0.2955175998915724	0.29464	0.0935622623887	0.10566	0.27493712306	0.06797	T	0.219317	0.62285	T	-0.537412	0.00347	T	-0.541563	0.18143	T	0.0329402526420959	0.02462	T	0.680032	0.28847	T	0.059109144	0.11972	0.080919966	0.18347	0.059109144	0.11972	0.080919966	0.18346	-9.608	0.71622	D	.	.	0.117	0.26106	B	.;.;.;.;.	.;.;.;.;.	1.321759	0.17257	13.06	0.33013701383901078	0.01944	0.07140	0.13165	N	AEFDBCI	0.100329	0.20177	N	-1.0382466880957	0.07820	0.3645906	-1.06665262861253	0.08363	0.4108979	0.993138449708791	0.33098	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.39	2.38	0.28415	0.637000	0.24348	0.267000	0.16613	-0.794000	0.03222	0.000000	0.06391	0.000000	0.08366	0.205000	0.22041	0.1401:0.6994:0.0:0.1605	7.273	0.25441	109	0.95526	.;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	547.98	30	chr16	66913597	.	C	A	547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.008e+00;DP=784;ExcessHet=0.0000;FS=2.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=0.355;SOR=1.136	GT:AD:DP:GQ:PL	0/1:30,25:55:99:562,0,768	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	0/1:106,24:130:50:.:.:50,0,3182	11	0	6	4
chr16	67949822	67949822	T	C	exonic	SLC12A4	.	nonsynonymous SNV	SLC12A4:NM_001145962:exon12:c.A1732G:p.M578V	.	.	.	.	.	.	.	.	.	.	.	2379323	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.67	T	0.171	B	0.096	B	0.000	D	1.000	D	-1.305	N	-4.98	D	0.420	D	0.715	D	0.882	1.778	11.90	5.58	2.131	2.621	15.752	0.520	0.0905547247844	.	.	6.774e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs749137904	5.148e-05	5.13e-05	3.005e-05	7.312e-05	0.0008	4.206e-05	3.836e-05	0.0007	0.0006	0	0	0	0	0	0	1.802e-06	1.663e-05	0.0008	3.287e-05	3.284e-05	3.854e-05	2.692e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	2.414e-05	0	0	0	0	0	0	0	0	0.0008	0.49	0.08018	T	0.508	0.10967	T	0.004	0.12183	B	0.002	0.06944	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.25	0.03863	N	-4.98	0.98487	D	-0.53	0.16393	N	0.721	0.74735	0.420	0.89391	D	0.715	0.90232	D	10	0.2277033	0.39656	T	0.090555	0.75541	D	0.520	0.79583	0.525	0.62967	0.65752205066	0.65465	0.8212270884069841	0.82079	0.342599719187	0.36191	0.755134224892	0.75205	T	0.402748	0.75968	T	0.162428	0.70425	D	0.360839	0.90734	D	0.0716261717118328	0.08877	T	0.736326	0.35288	T	0.36711177	0.58371	0.2928824	0.55316	0.36711177	0.58371	0.2928824	0.55315	-4.833	0.35282	T	.	.	0.116	0.23883	B	.;.;.;.;.;.	.;.;.;.;.;.	3.074910	0.41348	21.3	0.94087174750063374	0.24241	0.89576	0.50129	D	AEFGBCI	0.719422	0.67031	D	-0.436360710950326	0.24204	1.305323	-0.135375828430811	0.33975	1.949287	0.999999999207186	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.58	5.58	0.84361	2.584000	0.45768	2.950000	0.35708	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.752	0.77759	8	0.99202	Amino acid permease/ SLC12A domain;.;Amino acid permease/ SLC12A 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	1121.98	36	chr16	67949822	.	T	C	1121.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.435e+00;DP=804;ExcessHet=0.0000;FS=0.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-8.360e-01;SOR=0.613	GT:AD:DP:GQ:PL	0/1:46,48:94:99:1136,0,1182	20	0	1	0
chr16	69331250	69331250	C	T	exonic	COG8	.	nonsynonymous SNV	COG8:NM_001379261:exon5:c.G1708A:p.E570K,	Congenital disorder of glycosylation, type IIh	.	192	1305	18	7	0	32	0.012112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0321486	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs139824417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0056	0.0056	0.0035	0.0077	0.1222	0.0053	0.0051	0.1140	0.1108	0.0005	0	0.0017	0	0.0372	0	0	0.0002	0.0062	0.1222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	219.17	11	chr16	69331250	.	C	T	219.17	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.10;DP=213;ExcessHet=0.1072;FS=3.522;InbreedingCoeff=-0.0525;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.00;SOR=0.124	GT:AD:DP:GQ:PL	0/1:6,2:8:57:57,0,171	19	0	2	0
chr16	71973406	71973406	C	T	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon12:c.G1871A:p.S624N,	.	.	431	1085	6	0	0	6	0.00275735	.	.	2365080	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0009	0	0	0	0	0.0017	0.0042	0.0004	0.0002329	36	154602	rs200862662	0.0004	0.0004	0.0004	0.0005	0.0018	0.0004	0.0004	0.0010	0.0007	9.494e-05	0.0006	0.0023	0	2.031e-05	0.0018	0.0004	0.0008	0.0004	0.0005	0.0005	0.0006	0.0004	0.0008	0.0004	0.0004	0.0006	0.0006	2.405e-05	0.0022	0.0006	0.0023	0	0	0	0.0008	0.0005	0.0002	.	.	.	0.214	0.26386	T	0.128	0.27003	B	0.014	0.16862	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.02366	.	.	.	.	.	.	.	0.009675503	0.00218	T	.	.	.	.	.	.	.	0.151104730317	0.14643	0.3491660385468331	0.34830	.	.	0.214171379805	0.01001	T	0.021304	0.16611	T	-0.481834	0.00721	T	-0.544159	0.17891	T	.	.	.	0.268373	0.04464	T	0.022879412	0.00983	0.06863302	0.14357	0.022879412	0.00982	0.06863302	0.14357	-4.985	0.36677	T	.	.	0.104	0.18663	B	.	.	-0.242611	0.02879	0.410	0.60615052387581358	0.06506	0.02380	0.06763	N	AEFDBHI	.	.	.	.	.	.	.	.	.	0.00272925197803808	0.09662	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.0468684	0.05763	4.78	-1.72	0.07671	-0.187000	0.09652	-0.195000	0.11000	-0.208000	0.08445	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.4775:0.1643:0.2061:0.1521	1.332	0.02008	88	0.96322	.	.	.	.	.	.	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	1031.98	42	chr16	71973406	.	C	T	1031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.195;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=-1.732e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/1:48,44:92:99:1046,0,1132	20	0	1	0
chr16	71978340	71978340	C	G	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon10:c.G1442C:p.R481T,	.	.	437	1061	21	3	0	27	0.012564	.	.	2817746	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.00139776	0.0046	0.0005	0.0049	0	0.0018	0.0069	0.0041	0.0039	0.001229	190	154602	rs78847227	0.0043	0.0042	0.0043	0.0044	0.0119	0.0042	0.0042	0.0097	0.0088	0.0008	0.0042	0.0085	0	0.0012	0.0119	0.0046	0.0055	0.0035	0.0033	0.0033	0.0035	0.0031	0.0049	0.0030	0.0030	0.0044	0.0043	0.0006	0.0164	0.0042	0.0089	0	0.0009	0.0102	0.0049	0.0048	0.0023	.	.	.	0.06	0.45744	T	0.22	0.30288	B	0.036	0.22909	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.08786	.	.	.	.	.	.	.	0.004127741	0.00081	T	.	.	.	.	.	.	.	0.112648838833	0.10856	0.3126974060576522	0.31182	.	.	0.324828505516	0.14152	T	0.031258	0.21961	T	-0.453462	0.01077	T	-0.420138	0.31060	T	.	.	.	0.464354	0.13557	T	0.063487284	0.13372	0.092124306	0.21695	0.063487284	0.13372	0.092124306	0.21694	-3.568	0.17395	T	.	.	0.126	0.26669	B	.	.	-0.049723	0.03950	0.884	0.59147332785512841	0.06156	0.01292	0.04497	N	AEFDI	.	.	.	.	.	.	.	.	.	3.6990022583737E-4	0.06707	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.0970973	0.21743	4.92	-1.59	0.08003	-0.857000	0.04394	-0.881000	0.07064	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.092000	0.17891	0.0:0.3611:0.1605:0.4784	4.706	0.12228	93	0.96133	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1024.98	36	chr16	71978340	.	C	G	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.419e+00;DP=854;ExcessHet=0.0000;FS=1.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.67;ReadPosRankSum=-9.460e-01;SOR=0.532	GT:AD:DP:GQ:PL	0/1:58,48:106:99:1039,0,1472	20	0	1	0
chr16	72788670	72788670	-	TGC	exonic	ZFHX3	.	nonframeshift insertion	ZFHX3:NM_001164766:exon9:c.6863_6864insGCA:p.Q2290_P2291insQ	.	.	0	197	5	0	24	29	0.0125313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2820.05	41	chr16	72788664	.	TTGCTGC	TTGCTGCTGC,T	2820.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.87;DP=984;ExcessHet=0.1072;FS=1.793;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=-2.800e-02;SOR=0.573	GT:AD:DP:GQ:PL	0/1:50,46,0:96:99:1757,0,1953,1909,2091,4000	19	0	1	0
chr16	75542650	75542650	A	G	exonic	TMEM231	.	nonsynonymous SNV	TMEM231:NM_001077416:exon4:c.T775C:p.Y259H	Joubert syndrome 20, Autosomal recessive;Meckel syndrome 11, Autosomal recessive	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.002	B	0.003	B	0.142	N	1.000	N	-0.69	N	0.02	T	-1.044	T	0.058	T	0.208	0.438	6.381	-8.67	-1.128	0.226	7.275	0.077	0.00930066915393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.519	0.07283	T	0.546	0.25907	T	0.0	0.02946	B	0.002	0.06944	B	0.142240	0.18251	N	0.566652	1	0.08975	N	0.41	0.12415	N	0.02	0.62318	T	0.27	0.05125	N	0.21	0.28732	-1.0444	0.16000	T	0.058	0.24204	T	10	0.042634726	0.03032	T	0.009301	0.24413	T	0.077	0.22490	0.323	0.30387	0.0482279557977	0.04254	0.29029735877342827	0.28942	0.00761782121256	0.00674	0.230882018805	0.02034	T	0.046112	0.45611	T	-0.1741	0.24618	T	-0.487859	0.23615	T	0.0245543277273457	0.01215	T	0.483452	0.14697	T	0.01613509	0.00178	0.024653863	0.00489	0.01613509	0.00178	0.024653863	0.00489	-5.011	0.45212	T	0.099393632916616	0.07214	0.075	0.08368	B	.;.;.	.;.;.	0.330307	0.07045	3.607	0.69197749075108883	0.08896	0.02456	0.06904	N	AEFGBI	0.063538	0.12286	N	-1.44199003877588	0.02281	0.1005307	-1.50412501995632	0.02312	0.1061445	0.976612243498262	0.29742	0.706548	0.73137	0	0.653731	0.59785	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	4.33	-8.67	0.00748	0.237000	0.17763	-0.402000	0.09404	0.691000	0.84096	0.002000	0.15269	0.000000	0.08366	0.213000	0.22268	0.137:0.0:0.5297:0.3333	7.275	0.25455	706	0.57215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	765.98	37	chr16	75542650	.	A	G	765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.13;MQRankSum=0.919;QD=10.79;ReadPosRankSum=0.824;SOR=0.659	GT:AD:DP:GQ:PL	0/1:40,31:71:99:780,0,980	20	0	1	0
chr16	79211693	79211693	G	A	exonic	WWOX	.	nonsynonymous SNV	WWOX:NM_001291997:exon8:c.G803A:p.R268H	Epileptic encephalopathy, early infantile, 28, Autosomal recessive;Esophageal squamous cell carcinoma, somatic;Spinocrebellar ataxia, autosomal recessive 12, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	401874	Intellectual_disability|not_provided|WWOX-related_disorder|Developmental_and_epileptic_encephalopathy,_1|Autosomal_recessive_spinocerebellar_ataxia_12	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:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322,Orphanet:284282	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.994	D	0.000	N	1.000	D	2.25	M	-0.06	T	-0.554	T	0.541	D	0.82	3.043	16.16	5.67	2.667	9.120	19.779	0.159	0.129616378472	0.0002	0.000199681	0.0006	0.0001	0.0020	0.0001	0	0.0004	0.0011	0.0016	0.0005563	86	154602	rs202002431	0.0004	0.0004	0.0004	0.0004	0.0013	0.0004	0.0003	0.0011	0.0011	8.961e-05	0.0013	3.826e-05	0.0001	1.872e-05	0.0009	0.0003	0.0005	0.0013	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	0.0003	0	0.0007	0	0.0002	0	0	0.0002	0.0009	0.0004	0.54	0.06802	T	0.595	0.44302	T	0.48	0.77913	P	0.042	0.82059	B	0.000000	0.00162	N	409.830000	0.999996	0.81001	D	.	.	.	-0.06	0.63568	T	-1.49	0.36385	N	0.803	0.79889	-0.5538	0.66642	T	0.541	0.83075	D	10	0.114679754	0.21583	T	0.129616	0.81169	D	0.324	0.64624	.	.	0.882525101997	0.88137	0.5959866440795996	0.59528	.	.	0.608229160309	0.54066	T	0.241996	0.61064	T	-0.323908	0.06583	T	-0.268127	0.48009	T	0.0581392670008807	0.06873	T	0.952005	0.83363	D	0.17004988	0.37557	0.14476465	0.34357	0.14637952	0.33511	0.13846436	0.33067	-7.333	0.56430	T	0.42246503922180334	0.51101	0.336	0.55603	B	.;.	.;.	3.919083	0.57202	23.8	0.98098533877150129	0.38254	0.98778	0.86731	D	AEFDBI	0.843493	0.76052	D	0.658693034112835	0.76933	6.578539	0.704782690521681	0.82744	7.843008	0.999999999998887	0.74766	0.653281	0.48532	0	0.659912	0.62753	0	0.675528	0.61593	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	9.246000	0.94587	11.771000	0.95863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:0.0:1.0:0.0	19.779	0.96401	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	0	0	0	0	0.02381	805.98	47	chr16	79211693	.	G	A	805.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.225;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=1.14;SOR=0.786	GT:AD:DP:GQ:PL	0/1:37,34:71:99:820,0,873	20	0	1	0
chr16	81035954	81035954	-	GCCGCC	exonic	ATMIN	.	nonframeshift insertion	ATMIN:NM_015251:exon1:c.84_85insGCCGCC:p.A33_S34insAA,	.	.	582	938	2	0	0	2	0.00106496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1318669732	2.63e-05	1.984e-05	2.569e-05	2.7e-05	0.0005	1.751e-05	1.463e-05	4.36e-06	3.15e-06	0	0	0.0014	0	0	0.0005	1.014e-05	0.0001	5.663e-05	2.759e-05	2.668e-05	2.683e-05	2.838e-05	0.0002	8.45e-06	5.35e-06	.	.	0	0	0	0.0009	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	190.15	5	chr16	81035954	.	A	AGCCGCC	190.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.842;DP=213;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0386;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=27.16;ReadPosRankSum=-1.981e+00;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,5:7:69:0|1:81035954_A_AGCCGCC:204,0,69:81035954	20	0	1	0
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	0/1:22,23,0:45:99:637,0,607,703,676,1379	11	2	7	0
chr16	84194126	84194126	A	G	exonic	ADAD2	.	nonsynonymous SNV	ADAD2:NM_139174:exon2:c.A539G:p.D180G,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.002	B	0.0	B	0.000	N	1.000	N	0	N	2.05	T	-1.053	T	0.023	T	0.068	0.971	8.964	-3.24	-1.539	-0.060	0.512	0.048	0.00138870895426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.20683	T	0.749	0.04825	T	0.002	0.09854	B	0.0	0.01387	B	0.000131	0.00470	N	6.513580	1	0.08975	N	.	.	.	2.05	0.20664	T	0.04	0.06488	N	0.175	0.18784	-1.0529	0.13601	T	0.023	0.09968	T	10	0.04696226	0.03953	T	0.001389	0.02037	T	0.048	0.13305	0.369	0.37850	0.0884992946249	0.08302	0.18615649959913896	0.18533	.	.	.	.	.	.	.	.	-0.311993	0.07574	T	-0.685933	0.06627	T	0.701481103897095	0.40789	D	0.440756	0.12177	T	.	.	.	.	.	.	.	.	-2.212	0.04098	T	.	.	0.109	0.20702	B	.	.	0.418987	0.07896	4.600	0.97055413144714098	0.32171	0.01556	0.05095	N	AEFDBI	0.044074	0.07047	N	-1.36069159699632	0.03015	0.1340482	-1.46157957120298	0.02667	0.1230814	0.999995944784799	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.62	-3.24	0.04779	-0.183000	0.09707	-0.335000	0.09860	0.686000	0.82685	0.000000	0.06391	0.000000	0.08366	0.049000	0.15107	0.2585:0.2088:0.3259:0.2069	0.512	0.00558	749	0.51929	.	.	.	.	.	.	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	1954.98	41	chr16	84194126	.	A	G	1954.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.890e-01;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=0.097;SOR=0.712	GT:AD:DP:GQ:PL	0/1:50,79:129:99:1969,0,1169	20	0	1	0
chr16	87604296	87604296	-	CTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTG:p.A157_V158insAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/3:35,0,0,42,0,0:77:99:1607,1716,3180,1716,3180,3180,0,1463,1463,1337,1716,3180,3180,1463,3180,1716,3180,3180,1463,3180,3180	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	0/3:35,0,0,42,0,0:77:99:1607,1716,3180,1716,3180,3180,0,1463,1463,1337,1716,3180,3180,1463,3180,1716,3180,3180,1463,3180,3180	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	0/3:35,0,0,42,0,0:77:99:1607,1716,3180,1716,3180,3180,0,1463,1463,1337,1716,3180,3180,1463,3180,1716,3180,3180,1463,3180,3180	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	0/3:35,0,0,42,0,0:77:99:1607,1716,3180,1716,3180,3180,0,1463,1463,1337,1716,3180,3180,1463,3180,1716,3180,3180,1463,3180,3180	4	4	6	0
chr16	88714716	88714716	G	C	exonic	CTU2	.	nonsynonymous SNV	CTU2:NM_001318513:exon11:c.G1070C:p.C357S	.	.	419	1099	4	0	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.999	D	0.964	D	0.000	D	1.000	N	1.7	L	2.37	T	-1.043	T	0.071	T	0.662	0.603	7.247	2.62	1.111	0.078	7.442	0.181	0.0297632856953	.	.	3.644e-05	0	0	0	0	3.343e-05	0	0.0001	2.59e-05	4	154602	rs756209152	1.442e-05	1.437e-05	9.559e-06	1.932e-05	0.0007	9.26e-06	7.86e-06	0.0002	0.0001	0	0	0	0	0	0.0007	7.207e-06	4.986e-05	6.981e-05	6.575e-06	6.571e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.158	0.49613	T	0.033	0.92824	D	0.434	0.36447	B	0.154	0.35748	B	0.000002	0.62929	D	0.102292	1	0.08975	N	2.445	0.70938	M	2.37	0.17113	T	-3.27	0.83357	D	0.428	0.48780	-1.0434	0.16294	T	0.071	0.29034	T	10	0.15364388	0.28997	T	0.029763	0.52214	D	0.181	0.45247	0.424	0.46857	0.130388298395	0.12655	0.528836146806168	0.52807	.	.	0.407748043537	0.26145	T	0.027878	0.47661	T	-0.225684	0.17223	T	-0.325287	0.41992	T	0.698529005050659	0.40649	D	0.411059	0.14445	T	0.22951375	0.45690	0.18122026	0.40971	0.22951375	0.45690	0.18122026	0.40970	-2.309	0.04604	T	0.4065511911995796	0.49754	0.122	0.51112	B	.;.;.;.	.;.;.;.	1.471478	0.18953	14.01	0.4414640646498067	0.03373	0.22405	0.21735	N	AEFGBCI	0.108815	0.21635	N	-0.654647472060173	0.17326	0.890543	-0.757879550988024	0.15529	0.8171489	0.999389653301171	0.39415	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	4.78	2.62	0.30337	0.795000	0.26632	5.409000	0.48533	0.640000	0.52149	0.004000	0.16614	1.000000	0.68203	0.001000	0.02609	0.0:0.185:0.6238:0.1912	7.442	0.26364	895	0.25842	.;.;.;.	.	.	.	.	.	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	1070.98	98	chr16	88714716	.	G	C	1070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.026;DP=2129;ExcessHet=0.0000;FS=3.567;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=0.914;SOR=1.077	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,44:114:99:0|1:88714716_G_C:1085,0,1844:88714716	20	0	1	0
chr16	88737956	88737956	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon8:c.G998A:p.R333H,	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	425	1083	14	0	0	14	0.00642202	.	.	703893	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.58	T	0.039	B	0.005	B	.	.	1.000	N	-0.69	N	-0.66	T	-1.032	T	0.078	T	0.102	1.238	10.03	0.878	-0.060	-0.429	8.624	0.083	.	0.0079	0.00798722	0.0055	0.0135	0.0213	0	0	0.0063	0.0069	0.0023	0.0018111	280	154602	rs139099911	0.0056	0.0053	0.0058	0.0055	0.0137	0.0055	0.0055	0.0127	0.0122	0.0137	0.0080	0.0037	0.0002	0.0011	0.0127	0.0059	0.0067	0.0021	0.0082	0.0082	0.0087	0.0077	0.0139	0.0078	0.0077	0.0130	0.0126	0.0139	0	0.0106	0.0012	0	0.0007	0.0238	0.0067	0.0118	0.0014	0.659	0.04713	T	0.192	0.28300	T	0.039	0.21116	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	-0.66	0.72348	T	-0.97	0.25770	N	0.19	0.20793	-1.0317	0.19905	T	0.078	0.31072	T	9	0.0027179718	0.00042	T	.	.	.	0.083	0.24192	.	.	0.082315109003	0.07666	0.30635840609970894	0.30548	.	.	0.269693553448	0.06102	T	0.002959	0.02360	T	-0.545696	0.00310	T	-0.543657	0.17939	T	4.05406462959945e-05	0.00000	T	0.627137	0.24302	T	0.018275071	0.00348	0.023404123	0.00354	0.018275071	0.00348	0.023404123	0.00354	-3.628	0.18263	T	0.27473062936333154	0.36900	0.077	0.06479	B	.	.	0.091030	0.04949	1.517	0.783837323093733	0.12277	0.04719	0.10413	N	AEFDGBCI	0.110113	0.21848	N	-1.37552186590158	0.02868	0.1273059	-1.31995480069791	0.04172	0.1962572	0.895875410947873	0.25964	0.741868	0.97996	0	0.577304	0.33150	0	0.774882	0.98623	0	0.691587	0.68394	0	.	.	5.21	0.878	0.18285	-0.415000	0.07170	-1.706000	0.04878	-0.927000	0.02165	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6842:0.0:0.3158	8.624	0.33039	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	532.98	50	chr16	88737956	.	C	T	532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.052;DP=1239;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.92;ReadPosRankSum=-2.030e-01;SOR=0.787	GT:AD:DP:GQ:PL	0/1:55,22:77:99:547,0,1598	20	0	1	0
chr16	88856861	88856861	G	A	exonic	GALNS	.	nonsynonymous SNV	GALNS:NM_000512:exon1:c.C17T:p.A6V,	Mucopolysaccharidosis IVA, Autosomal recessive	.	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.414	B	0.049	B	0.001	N	1.000	N	0	N	-3.55	D	-0.133	T	0.561	D	0.112	4.261	22.2	-3.38	-0.478	-0.197	0.818	0.168	0.97495234436	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1408119824	1.471e-06	5.472e-06	1.453e-06	1.491e-06	2.976e-05	2.5e-07	9e-08	.	.	0	2.976e-05	0	0	0	0	9.341e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32769	T	0.014	0.92824	D	0.001	0.07471	B	0.0	0.01387	B	0.001153	0.00745	N	5.221570	1	0.19486	N	0	0.06538	N	-3.9	0.96015	D	-0.1	0.55821	N	0.062	0.11340	-0.1331	0.79329	T	0.561	0.84036	D	10	0.19139788	0.34824	T	0.974952	0.99856	D	0.168	0.42943	0.385	0.40460	0.75733315783	0.75513	0.45761997194399606	0.45679	0.0964755797854	0.10890	0.721707463264	0.70294	T	0.228794	0.71801	T	0.0620743	0.59873	T	-0.148611	0.59366	T	0.0916632816921962	0.11414	T	0.513449	0.16498	T	0.04027016	0.05716	0.07204775	0.15499	0.04027016	0.05716	0.07204775	0.15498	-4.136	0.25819	T	.	.	0.188	0.53762	B	.;.;.	.;.;.	1.573381	0.20139	14.61	0.99269894918618995	0.57525	0.52739	0.29203	D	ALL	0.045821	0.07537	N	-1.12172173680314	0.06258	0.2875947	-1.17014721705297	0.06413	0.3086475	0.999999999348137	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	3.33	-3.38	0.04577	-0.627000	0.05618	0.065000	0.14184	0.460000	0.21577	0.000000	0.06391	0.000000	0.08366	0.794000	0.37478	0.3043:0.3406:0.1846:0.1704	0.818	0.01035	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	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	692.98	33	chr16	88856861	.	G	A	692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.400e-01;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=3.06;SOR=0.844	GT:AD:DP:GQ:PL	0/1:19,32:51:99:707,0,350	20	0	1	0
chr16	89100970	89100970	A	T	exonic	ACSF3	.	nonsynonymous SNV	ACSF3:NM_001127214:exon2:c.A289T:p.R97W	Combined malonic and methylmalonic aciduria	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.45	H	0.42	T	0.220	D	0.503	D	0.928	2.700	14.99	0.098	-0.255	0.600	14.543	0.657	0.130465358978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.998921	0.81001	D	4.63	0.99327	H	0.42	0.56937	T	-7.4	0.95305	D	0.948	0.95608	0.220	0.86243	D	0.503	0.81237	D	10	0.98525786	0.98768	D	0.130465	0.81263	D	0.657	0.87135	0.914	0.98346	0.610312411291	0.60717	0.8462832790474565	0.84589	0.313277020472	0.33623	0.611466407776	0.54523	T	0.518727	0.83128	D	0.300476	0.83004	D	0.193836	0.82785	D	0.999305844306946	0.96892	D	0.976102	0.91674	D	0.9046036	0.91797	0.86036986	0.92204	0.9046036	0.91799	0.86036986	0.92205	-17.31	0.99149	D	0.8998037934541196	0.95167	0.475	0.64622	A	.;.;.;.	.;.;.;.	3.242700	0.44271	21.9	0.99787068404184798	0.87308	0.85626	0.44779	D	AEFDBI	0.680809	0.64438	D	0.174219472023021	0.49964	3.19112	-0.0718059219167416	0.36561	2.129285	0.95141162317416	0.27956	0.67177	0.52595	0	0.702456	0.74545	0	0.596874	0.31795	0	0.635551	0.53088	0	.	.	5.27	0.098	0.13806	0.404000	0.20722	1.215000	0.24935	-0.095000	0.16041	0.989000	0.36753	0.997000	0.33255	0.027000	0.12703	0.4588:0.5412:0.0:0.0	14.543	0.67594	900	0.24599	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	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	2106.98	72	chr16	89100970	.	A	T	2106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.080e+00;DP=1526;ExcessHet=0.0000;FS=0.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=0.701;SOR=0.766	GT:AD:DP:GQ:PL	0/1:78,81:159:99:2121,0,1979	20	0	1	0
chr16	89145370	89145370	G	C	exonic	ACSF3	.	nonsynonymous SNV	ACSF3:NM_001284316:exon7:c.G675C:p.E225D	Combined malonic and methylmalonic aciduria	YES	0	1508	14	0	0	14	0.00462046	.	.	375624	not_specified|not_provided|Combined_malonic_and_methylmalonic_acidemia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013661,MedGen:C3280314,OMIM:614265,Orphanet:289504	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	0.984	D	2.545	M	-0.61	T	0.288	D	0.599	D	0.917	3.446	17.67	4.69	2.155	2.763	9.515	0.750	0.123485323285	7.7e-05	0.000399361	0.0002	0	0	0	0	3.017e-05	0	0.0017	0.000207	32	154602	rs147538370	0.0002	0.0002	0.0001	0.0002	0.0033	0.0001	0.0001	0.0022	0.0018	2.987e-05	6.708e-05	0	0	0	0.0033	5.126e-05	0.0004	0.0014	9.845e-05	9.841e-05	6.422e-05	0.0001	0.0017	6e-05	4.874e-05	0.0008	0.0006	0	0	0	0	0	0	0	0.0001	0	0.0017	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000094	0.51296	D	0.127272	0.983711	0.40050	D	3.305	0.90531	M	-1.22	0.78752	T	-2.64	0.60982	D	0.955	0.96416	0.288	0.87365	D	0.599	0.85727	D	10	0.27069536	0.44603	T	0.123485	0.80466	D	0.750	0.91413	0.938	0.99130	0.482721949076	0.47902	0.9240531718369235	0.92382	0.288101061184	0.31214	0.649389743805	0.59899	T	0.396581	0.77859	T	0.0883325	0.63001	D	0.324028	0.89258	D	0.437109708786011	0.30323	T	0.969003	0.97142	D	0.78012085	0.82661	0.57322186	0.75281	0.78012085	0.82663	0.57322186	0.75282	-14.468	0.94478	D	0.5781481678380671	0.64505	0.955	0.90555	P	.;.;.;.;.	.;.;.;.;.	3.999771	0.58929	24.0	0.99852791191937929	0.93191	0.93234	0.57675	D	AEFDGBHCI	0.637426	0.61622	D	0.538204470214631	0.69366	5.346793	0.450613761952801	0.64757	4.738273	0.999986570142432	0.51787	0.743674	0.98306	0	0.702456	0.74545	0	0.635938	0.45252	0	0.584449	0.35598	0	.	.	4.69	4.69	0.58546	2.966000	0.48900	4.901000	0.45859	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.108000	0.18652	0.1417:0.0:0.8583:0.0	9.515	0.38263	884	0.28482	AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal 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	1331.98	33	chr16	89145370	.	G	C	1331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.140;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=-1.883e+00;SOR=0.768	GT:AD:DP:GQ:PL	0/1:56,53:109:99:1346,0,1453	20	0	1	0
chr16	89280430	89280430	T	C	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.A6112G:p.K2038E	KBG syndrome, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	439074	ANKRD11-related_disorder|KBG_syndrome|Inborn_genetic_diseases|not_provided	.|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.488	P	0.037	B	0.001	N	1.000	D	0.975	L	0.98	T	-1.052	T	0.077	T	0.442	2.661	14.86	5.29	2.002	5.577	14.915	0.163	0.02266763446	0.0005	0.000798722	0.0007	0.0004	0.0001	0	0	0.0006	0	0.0023	0.0003946	61	154602	rs200724087	0.0009	0.0009	0.0008	0.0009	0.0022	0.0008	0.0008	0.0019	0.0018	6.153e-05	0.0001	0.0028	0	0	0.0006	0.0008	0.0008	0.0022	0.0005	0.0005	0.0006	0.0005	0.0023	0.0004	0.0004	0.0013	0.0010	0.0003	0	0.0003	0.0017	0	0	0	0.0007	0.0009	0.0023	0.008	0.58626	D	0.256	0.23298	T	0.488	0.36905	P	0.037	0.23121	B	0.001030	0.40562	N	0.170984	0.946972	0.37549	D	2.445	0.70938	M	0.98	0.42122	T	-0.88	0.23808	N	0.448	0.55366	-1.0522	0.13790	T	0.077	0.30676	T	10	0.006870091	0.00156	T	0.022668	0.45580	T	0.163	0.42028	.	.	0.494135641928	0.49047	0.32866577432199484	0.32779	0.167050499387	0.18843	0.395347297192	0.24420	T	0.164472	0.50994	T	-0.382827	0.02990	T	-0.341696	0.40152	T	0.0141456625344	0.00277	T	0.443756	0.12347	T	0.18581071	0.39961	0.14502487	0.34411	0.21070506	0.43375	0.17015427	0.39102	-2.296	0.04533	T	0.5851595647277625	0.65195	0.147	0.33913	B	.;.;.	.;.;.	2.488127	0.32099	18.94	0.9798286198108741	0.37341	0.90744	0.52179	D	AEFDBCI	0.512582	0.54073	D	-0.20812658081158	0.32801	1.853847	-0.166277628281805	0.32785	1.868775	0.999982459097477	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.29	5.29	0.74430	5.758000	0.68429	4.177000	0.42312	0.659000	0.54702	1.000000	0.71638	0.999000	0.35428	0.001000	0.02609	0.0:0.0:0.0:1.0	14.915	0.70437	819	0.41190	.;.;.	.	.	.	.	.	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	936.98	60	chr16	89280430	.	T	C	936.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.837;DP=902;ExcessHet=0.0000;FS=1.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=-1.222e+00;SOR=0.527	GT:AD:DP:GQ:PL	0/1:64,38:102:99:951,0,1733	20	0	1	0
chr16	89767168	89767168	G	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon27:c.C2574G:p.S858R	Fanconi anemia, complementation group A, Autosomal recessive	.	3	1387	124	8	0	140	0.0480439	.	.	137995	Fanconi_anemia_complementation_group_A|not_specified|not_provided|Fanconi_anemia|FANCA-related_disorder	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.468	P	0.143	B	0.179	N	1.000	N	1.61	L	-1.88	D	-0.709	T	0.315	T	0.357	-0.052	3.749	1.56	0.073	1.381	4.561	0.134	.	0.0053	0.00938498	0.0103	0.0013	0.0038	0	0.0100	0.0094	0.0099	0.0296	0.0096118	1486	154602	rs17233141	0.0092	0.0093	0.0085	0.0100	0.0324	0.0091	0.0090	0.0314	0.0310	0.0012	0.0043	0.0111	0	0.0093	0.0250	0.0080	0.0100	0.0324	0.0064	0.0064	0.0063	0.0065	0.0255	0.0061	0.0059	0.0218	0.0204	0.0018	0.0011	0.0067	0.0069	0.0002	0.0081	0.0170	0.0079	0.0090	0.0255	0.063	0.37536	T	0.072	0.45110	T	0.257	0.31412	B	0.143	0.33763	B	0.179044	0.17154	N	0.583605	1	0.08975	N	2.24	0.63355	M	-1.88	0.84557	D	-2.16	0.48850	N	0.338	0.39659	-0.7091	0.59997	T	0.315	0.68486	T	10	0.008692145	0.00197	T	.	.	.	0.134	0.36365	0.249	0.18602	.	.	0.17119845704923142	0.17039	.	.	0.284874647856	0.08182	T	0.224342	0.58875	T	-0.321408	0.06783	T	-0.210772	0.53621	T	0.00823742409031721	0.00099	T	0.563744	0.19863	T	0.068879694	0.15043	0.10313486	0.24736	0.086379096	0.20074	0.08347228	0.19130	-4.486	0.30718	T	0.5329796739477456	0.60360	0.201	0.43380	B	.;.	.;.	0.963643	0.13404	9.909	0.93017545135543789	0.22613	0.09317	0.15097	N	AEFBI	0.154989	0.28011	N	-0.867700815936059	0.11617	0.561594	-0.95107218514313	0.10898	0.5518684	0.720075285439065	0.22921	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.77	1.56	0.22423	1.788000	0.38346	3.011000	0.35961	-0.149000	0.12139	0.026000	0.20160	0.585000	0.25641	0.008000	0.08271	0.1928:0.0:0.634:0.1731	4.561	0.11560	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	1	0	0	1	0	1	0	0.119	4261.42	36	chr16	89767168	.	G	C	4261.42	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-4.680e-01;DP=861;ExcessHet=0.0409;FS=2.815;InbreedingCoeff=0.3189;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=0.895;SOR=0.883	GT:AD:DP:GQ:PL	0/1:34,30:64:99:741,0,912	17	1	3	0
chr16	89920024	89920024	C	T	exonic	MC1R	.	nonsynonymous SNV	MC1R:NM_002386:exon1:c.C766T:p.P256S,	.	.	1	1520	1	0	0	1	0.000328839	.	.	467261	Tyrosinase-positive_oculocutaneous_albinism|Increased_analgesia_from_kappa-opioid_receptor_agonist,_female-specific|Skin/hair/eye_pigmentation,_variation_in,_2|Melanoma,_cutaneous_malignant,_susceptibility_to,_5	MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432|MedGen:C2751296,OMIM:613098|MedGen:C1849452,OMIM:266300|MONDO:MONDO:0013133,MedGen:C2751295,OMIM:613099,Orphanet:618	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.660	U	1.000	D	4.255	H	-1.36	T	0.783	D	0.827	D	0.935	5.178	32	5.27	2.475	5.780	17.861	0.770	0.335607649911	0.0002	.	0.0002	0	8.655e-05	0	0	0.0002	0	0.0002	0.0001488	23	154602	rs200215218	0.0001	0.0001	0.0001	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	0	6.708e-05	0.0030	0	0	0.0014	6.026e-05	0.0004	0.0003	8.54e-05	8.536e-05	8.992e-05	8.067e-05	7.236e-05	4.956e-05	3.962e-05	1.972e-05	1.124e-05	7.236e-05	0	6.541e-05	0.0012	0	0	0	5.88e-05	0.0005	0	0.0	0.91255	D	0.004	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.660336	0.10433	U	0.766304	0.999997	0.58761	D	4.505	0.98992	H	-1.36	0.80125	T	-7.31	0.94511	D	0.905	0.90590	0.783	0.94204	D	0.827	0.94186	D	9	0.4708095	0.59850	T	0.335608	0.91873	D	0.770	0.92253	.	.	0.931333358663	0.93062	0.8024894890513804	0.80202	0.130723557862	0.14746	.	.	.	0.686723	0.90853	D	0.233161	0.77018	D	0.393335	0.91896	D	0.950258791446686	0.63295	D	0.956938	0.83632	D	0.9405113	0.95299	0.90024084	0.94993	0.9405113	0.95300	0.90024084	0.94994	-9.598	0.71467	D	0.6608202178945025	0.73428	0.646	0.70767	P	.;.;.;.	.;.;.;.	4.920016	0.81031	27.5	0.99933057395113001	0.99488	0.92827	0.56643	D	AEFBCI	0.838622	0.75611	D	0.934457400628019	0.93342	11.97647	0.833182782423548	0.91997	11.17991	1.0	0.98316	0.635344	0.42169	0	0.610034	0.51514	0	0.654045	0.52621	0	0.664235	0.64389	0	.	.	5.27	5.27	0.73797	7.839000	0.85040	7.495000	0.59416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.861	0.88695	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	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	3151.98	33	chr16	89920024	.	C	T	3151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=1003;ExcessHet=0.0000;FS=2.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-1.125e+00;SOR=0.529	GT:AD:DP:GQ:PL	0/1:118,120:238:99:3166,0,3083	20	0	1	0
chr17	3679606	3679606	G	A	exonic	P2RX5	.	nonsynonymous SNV	P2RX5:NM_001204520:exon10:c.C1171T:p.L391F	.	.	401	1115	6	0	0	6	0.00268336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.015	B	0.007	B	0.001	U	1.000	N	0	N	3.42	T	-0.952	T	0.012	T	0.106	1.497	10.96	-3.63	-0.310	-1.324	3.019	0.067	0.00961016300398	.	.	8.328e-06	0	0	0	0	1.515e-05	0	0	6.5e-06	1	154602	rs763242404	1.58e-05	1.642e-05	1.231e-05	1.933e-05	0.0003	1.052e-05	8.79e-06	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	1.259e-05	3.314e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.42487	T	0.122	0.37730	T	0.015	0.17086	B	0.007	0.12992	B	0.001092	0.00736	U	614.321000	1	0.08975	N	0.695	0.17993	N	3.34	0.08721	T	-1.1	0.28497	N	0.084	0.21580	-0.9516	0.40695	T	0.012	0.04653	T	10	0.051540762	0.05051	T	0.00961	0.25130	T	0.067	0.19503	.	.	0.0884992946249	0.08302	0.21570084939465148	0.21486	0.144935694035	0.16379	0.391272425652	0.23849	T	0.031505	0.27673	T	-0.350981	0.04666	T	-0.741937	0.03810	T	0.0578021505075396	0.06818	T	0.384762	0.10990	T	0.048454292	0.08446	0.04538682	0.06095	0.048454292	0.08446	0.04538682	0.06094	-5.303	0.40072	T	.	.	0.087	0.10979	B	.;.;.;.;.;.	.;.;.;.;.;.	0.433492	0.08038	4.759	0.94737045427698752	0.25423	0.08381	0.14317	N	AEFDBCI	0.119821	0.23369	N	-1.47242648442331	0.02046	0.08995671	-1.53146619464122	0.02106	0.0963722	0.999727857229966	0.42220	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.43	-3.63	0.04238	-1.361000	0.02704	0.309000	0.17063	-0.189000	0.09497	0.000000	0.06391	0.020000	0.20764	0.012000	0.09680	0.0967:0.406:0.223:0.2743	3.019	0.05701	814	0.42100	.;.;.;.;.;.	.	.	.	.	.	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	1038.98	37	chr17	3679606	.	G	A	1038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.247;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.98;ReadPosRankSum=0.519;SOR=0.752	GT:AD:DP:GQ:PL	0/1:25,40:65:99:1053,0,607	20	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	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	2/2:3,0,130:133:99:.:.:4464,4472,4520,361,408,0	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	1/1:3,130,0:133:99:.:.:4464,361,0,4472,408,4520	0	10	6	1
chr17	7818947	7818947	C	A	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon71:c.C10699A:p.L3567M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.18	H	-0.48	T	0.270	D	0.619	D	0.643	3.237	16.85	3.31	2.228	1.894	6.236	0.577	0.0228389710333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000013	0.62929	D	0.000000	0.977628	0.39384	D	4.71	0.99496	H	-0.48	0.70249	T	-1.92	0.44657	N	0.628	0.64223	0.270	0.87065	D	0.619	0.86547	D	10	0.46030658	0.59243	T	0.022839	0.45763	T	0.577	0.82912	0.448	0.50793	0.762071947071	0.75990	0.5012395032699735	0.50045	0.935998751348	0.72014	0.669652223587	0.62789	T	0.245489	0.61480	T	0.132177	0.67574	D	-0.0479134	0.67165	D	0.999145030975342	0.96328	D	0.908909	0.76145	D	0.5383714	0.69305	0.43384418	0.66924	0.5383714	0.69306	0.43384418	0.66924	-12.343	0.86481	D	.	.	0.484	0.63844	A	.;.;.	.;.;.	3.993262	0.58790	24.0	0.9963308145023001	0.76142	0.90476	0.51684	D	AEFDGBI	0.286600	0.39894	N	0.733228280234832	0.81812	7.610343	0.577038247275588	0.73295	5.947494	0.00640922402816573	0.11209	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.31	3.31	0.37025	2.267000	0.42986	1.727000	0.28301	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.7233:0.0:0.2767	6.236	0.19975	292	0.88363	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	.	.	.	.	.	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	1092.98	40	chr17	7818947	.	C	A	1092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.213e+00;DP=838;ExcessHet=0.0000;FS=0.874;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.852;SOR=0.892	GT:AD:DP:GQ:PL	0/1:34,42:76:99:1107,0,913	20	0	1	0
chr17	7830345	7830345	C	T	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon78:c.C11899T:p.P3967S,	.	.	425	1082	15	0	0	15	0.00688389	.	.	704403	DNAH2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.004	B	0.658	N	1.000	N	0.195	N	3.11	T	-0.935	T	0.008	T	0.222	-0.627	1.222	-2.96	-0.083	-0.737	2.580	0.035	0.00205329172863	0.0021	0.00119808	0.0028	0.0003	0.0015	0	0	0.0044	0.0022	0.0010	0.0025161	389	154602	rs149406306	0.0024	0.0024	0.0023	0.0025	0.0160	0.0024	0.0023	0.0133	0.0123	0.0005	0.0021	0.0236	2.519e-05	0.0001	0.0160	0.0022	0.0040	0.0008	0.0024	0.0024	0.0026	0.0022	0.0048	0.0022	0.0021	0.0039	0.0036	0.0006	0	0.0048	0.0260	0.0002	0	0.0034	0.0023	0.0033	0.0010	0.627	0.05198	T	0.659	0.06533	T	0.0	0.02946	B	0.004	0.10090	B	0.658470	0.05965	N	1.159560	1	0.08975	N	0.895	0.22405	L	3.11	0.08194	T	-0.04	0.07590	N	0.104	0.08786	-0.9354	0.43333	T	0.008	0.02801	T	10	0.004812062	0.00102	T	0.002053	0.03748	T	0.035	0.08770	.	.	0.124217242631	0.12060	0.1587861830143489	0.15799	0.274421442702	0.29933	0.300274163485	0.10441	T	0.015995	0.13307	T	-0.618727	0.00112	T	-0.665526	0.07898	T	0.00263562579694422	0.00027	T	0.693931	0.30359	T	0.06966676	0.15284	0.07255256	0.15666	0.06966676	0.15283	0.07255256	0.15666	-4.262	0.27641	T	.	.	0.063	0.01387	B	.;.;.	.;.;.	-0.027235	0.04097	0.964	0.38510695887481283	0.02602	0.06659	0.12677	N	AEFBI	0.054567	0.09932	N	-0.998363504325872	0.08639	0.405821	-0.984771868095073	0.10126	0.5080766	0.035612651969851	0.14208	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.55	-2.96	0.05212	-0.699000	0.05188	-1.498000	0.05304	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.691000	0.33868	0.1004:0.4046:0.2067:0.2883	2.580	0.04523	290	0.88477	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain 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	836.98	34	chr17	7830345	.	C	T	836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=764;ExcessHet=0.0000;FS=3.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.33;ReadPosRankSum=0.971;SOR=1.074	GT:AD:DP:GQ:PL	0/1:48,33:81:99:851,0,1171	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	1/2:0,22,34,0,0,0:56:99:2413,1295,1188,852,0,712,2291,1285,840,2242,2291,1285,840,2242,2242,2291,1285,840,2242,2242,2242	0	14	0	0
chr17	7846865	7846865	-	ACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACC:p.P264_L265insPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/2:0,22,34,0,0,0:56:99:2413,1295,1188,852,0,712,2291,1285,840,2242,2291,1285,840,2242,2242,2291,1285,840,2242,2242,2242	0	14	0	0
chr17	7846865	7846865	-	ACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACC:p.P264_L265insP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/2:0,22,34,0,0,0:56:99:2413,1295,1188,852,0,712,2291,1285,840,2242,2291,1285,840,2242,2242,2291,1285,840,2242,2242,2242	0	14	0	0
chr17	7846865	7846865	-	ACCACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACCACC:p.P264_L265insPPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/2:0,22,34,0,0,0:56:99:2413,1295,1188,852,0,712,2291,1285,840,2242,2291,1285,840,2242,2242,2291,1285,840,2242,2242,2242	0	14	0	0
chr17	10452917	10452917	C	T	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon25:c.G3127A:p.E1043K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.834	P	0.002	U	1.000	D	2.38	M	-4.05	D	1.043	D	0.921	D	0.845	4.710	26.2	5.42	2.699	7.257	18.149	0.817	0.264365851459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.889e-07	6.841e-07	0	1.386e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.244	0.24123	T	0.991	0.64070	D	0.834	0.59825	P	0.001849	0.37840	U	0.000000	0.999999	0.58761	D	2.335	0.66956	M	-4.05	0.96496	D	-3.21	0.64826	D	0.453	0.49055	1.043	0.97979	D	0.921	0.97395	D	10	0.63910675	0.68953	D	0.264366	0.89633	D	0.817	0.94123	0.362	0.36711	0.992822871289	0.99274	0.25529316563114457	0.25443	0.73425784967	0.62887	0.858462631702	0.90883	D	0.478933	0.80855	T	0.421728	0.91111	D	0.368006	0.91001	D	0.992875456809998	0.83475	D	0.960204	0.84976	D	0.20713145	0.42909	0.2965153	0.55684	0.20713145	0.42909	0.2965153	0.55683	-12.186	0.85745	D	.	.	0.232	0.46481	B	.	.	5.080719	0.84794	28.4	0.99860044461883368	0.93820	0.98094	0.79547	D	AEFI	0.855544	0.77267	D	0.800762762993431	0.86154	8.795088	0.788278395455453	0.88965	9.785529	0.999935905545482	0.46732	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	5.622000	0.67427	7.604000	0.61663	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.149	0.89599	92	0.96160	Myosin tail	.	.	.	.	.	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	1068.98	33	chr17	10452917	.	C	T	1068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=783;ExcessHet=0.0000;FS=1.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=-5.370e-01;SOR=0.883	GT:AD:DP:GQ:PL	0/1:56,43:99:99:1083,0,1452	20	0	1	0
chr17	16353372	16353372	G	C	exonic	CENPV	.	nonsynonymous SNV	CENPV:NM_181716:exon1:c.C65G:p.A22G,	.	.	493	451	356	217	5	795	0.466903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.002	B	0.018	N	0.995	P	.	.	.	.	-1.045	T	0.000	T	0.13	-0.711	0.937	-5.31	-0.962	-0.654	7.385	0.005	0.0196258658988	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs149829221	7.149e-05	0.0003	7.417e-05	6.858e-05	0.0004	5.819e-05	5.381e-05	9.822e-05	5.577e-05	0	0.0004	0	0.0002	0	0	7.546e-05	2.353e-05	0	0.0001	0.0002	0.0002	0.0001	0.0004	9.954e-05	8.437e-05	0.0001	9.132e-05	7.305e-05	0	6.661e-05	0	0.0004	0.0001	0.0034	0.0002	0	0.0002	0.561	0.06361	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.018135	0.01481	N	4.295950	1	0.23375	P	.	.	.	.	.	.	0.16	0.05217	N	0.077	0.05162	-1.0452	0.15767	T	0.000	0.00011	T	7	0.019916922	0.00451	T	0.019626	0.42042	T	0.005	0.00259	.	.	0.0884992946249	0.08302	0.0786799102888714	0.07802	1.08031386052	0.77120	0.761266052723	0.76117	T	.	.	.	-0.513494	0.00480	T	-0.57513	0.14982	T	0.0382244026170994	0.03372	T	0.321768	0.06536	T	.	.	.	.	.	.	.	.	-4.474	0.30547	T	.	.	0.062	0.01367	B	.	.	0.600789	0.09695	6.463	0.46967313541535144	0.03803	0.01035	0.03875	N	AEFDGBHCI	0.040505	0.06034	N	-1.72508104807624	0.00756	0.03267343	-1.84943526281674	0.00613	0.02726113	0.99999999998593	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.66	-5.31	0.02519	0.072000	0.14482	-2.522000	0.03652	0.272000	0.18543	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.3102:0.4876:0.2022	7.385	0.26048	688	0.59122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	6610.61	16	chr17	16353372	.	G	GCGGAGGCCC,C	6610.61	.	AC=23,1;AF=0.548,0.024;AN=42;BaseQRankSum=0.00;DP=327;ExcessHet=0.2438;FS=3.230;InbreedingCoeff=0.2106;MLEAC=23,1;MLEAF=0.548,0.024;MQ=60.00;MQRankSum=0.00;QD=28.25;ReadPosRankSum=0.231;SOR=0.929	GT:AD:DP:GQ:PL	0/1:5,8,0:13:99:321,0,186,336,210,546	5	7	8	0
chr17	17477109	17477109	C	G	exonic	MED9	.	nonsynonymous SNV	MED9:NM_018019:exon1:c.C68G:p.P23R,	.	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.278	B	0.099	B	0.048	N	0.993	N	0.895	L	.	.	-1.045	T	0.074	T	0.216	1.371	10.51	1.91	0.157	0.559	11.148	0.025	0.0288770512202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.874e-07	6.841e-07	1.368e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.665e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.019	0.74150	D	0.278	0.32022	B	0.099	0.30579	B	0.047544	0.23334	N	0.364609	0.993408	0.23718	N	0.805	0.20218	L	.	.	.	-1.61	0.38734	N	0.257	0.29081	-1.0448	0.15884	T	0.074	0.29865	T	9	0.13602254	0.25881	T	0.028877	0.51484	D	0.025	0.05312	0.138	0.04187	0.202949470691	0.19918	0.31616873956999064	0.31529	0.927097404483	0.71684	0.681411445141	0.64471	T	0.084809	0.63567	T	-0.158483	0.26995	T	-0.465426	0.26011	T	0.252457857131958	0.22983	T	0.473853	0.14122	T	0.038765255	0.05227	0.12272998	0.29602	0.038765255	0.05227	0.12272998	0.29601	-4.869	0.35385	T	0.2942798260070767	0.39114	0.098	0.16319	B	.;.	.;.	2.543986	0.32911	19.18	0.94091855596670471	0.24249	0.10005	0.15628	N	AEFGBHCIJ	0.061564	0.11779	N	-0.676224912065291	0.16700	0.8531721	-0.634670290885663	0.18605	0.9946102	0.999999999991055	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.13	1.91	0.24841	0.739000	0.25841	1.150000	0.24473	-0.314000	0.05961	0.837000	0.30238	0.867000	0.27550	0.008000	0.08271	0.4847:0.5153:0.0:0.0	11.148	0.47667	769	0.49307	.;.	.	.	.	.	.	Uncertain significance	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	423.98	34	chr17	17477109	.	C	G	423.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=740;ExcessHet=0.0000;FS=2.407;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.31;ReadPosRankSum=0.595;SOR=0.606	GT:AD:DP:GQ:PL	0/1:32,19:51:99:438,0,781	20	0	1	0
chr17	17793782	17793782	-	CAG	exonic	RAI1	.	nonframeshift insertion	RAI1:NM_030665:exon3:c.834_835insCAG:p.Q291_A292insQ,	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8476.07	194	chr17	17793779	.	CCAG	C,CCAGCAG	8476.07	.	AC=7,2;AF=0.167,0.048;AN=42;BaseQRankSum=0.190;DP=4672;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.3035;MLEAC=7,2;MLEAF=0.167,0.048;MQ=60.00;MQRankSum=0.00;QD=4.69;ReadPosRankSum=0.870;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:164,28,0:194:99:.:.:602,0,6226,1147,6491,8004	12	0	7	0
chr17	17794090	17794090	C	T	exonic	RAI1	.	nonsynonymous SNV	RAI1:NM_030665:exon3:c.C1142T:p.A381V,	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	1	1515	6	0	0	6	0.00197628	.	.	102071	not_provided|Smith-Magenis_syndrome|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MONDO:MONDO:0008434,MedGen:C0795864,OMIM:182290,Orphanet:819|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.976	D	0.696	P	0.005	N	1.000	D	1.935	M	1.44	T	-0.975	T	0.106	T	0.67	3.010	16.04	5.55	2.621	3.141	19.494	0.193	.	0.0036	0.00299521	0.0036	0.0013	0.0041	0	0.0006	0.0054	0.0044	0.0006	0.0035705	552	154602	rs113208290	0.0045	0.0045	0.0045	0.0045	0.0051	0.0044	0.0044	0.0048	0.0048	0.0008	0.0051	0.0134	0	0.0008	0.0047	0.0049	0.0056	0.0008	0.0040	0.0040	0.0041	0.0039	0.0081	0.0037	0.0036	0.0069	0.0065	0.0013	0	0.0081	0.0138	0.0002	0.0009	0.0102	0.0052	0.0047	0.0010	0.002	0.72154	D	0.057	0.46406	T	0.976	0.58310	D	0.696	0.54017	P	0.004764	0.33407	N	0.298968	0.99992	0.51308	D	1.955	0.52871	M	1.44	0.32722	T	-1.33	0.55339	N	0.506	0.53796	-0.9751	0.36104	T	0.106	0.38611	T	10	0.007868499	0.00179	T	.	.	.	0.193	0.47281	.	.	0.117191471859	0.11215	0.3903836673548236	0.38953	0.354127082392	0.37196	0.421463221312	0.28038	T	0.094197	0.39367	T	-0.311477	0.07620	T	-0.217857	0.52942	T	0.0273435220180576	0.01593	T	0.865113	0.56350	D	0.10556923	0.24961	0.15154576	0.35694	0.11847794	0.27914	0.1756728	0.40049	-4.531	0.31292	T	0.3811925489293024	0.47560	0.099	0.16713	B	.;.;.	.;.;.	3.703170	0.52822	23.3	0.99903370039741779	0.97502	0.96446	0.69180	D	AEFBI	0.557196	0.56692	D	0.333544258906735	0.57877	3.956975	0.273534033604529	0.54000	3.566356	0.999999999338325	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.61531	0.40942	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	3.897000	0.55986	5.927000	0.51257	0.599000	0.40250	0.978000	0.35038	1.000000	0.68203	0.042000	0.14466	0.0:1.0:0.0:0.0	19.494	0.95058	313	0.87327	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	8237.11	266	chr17	17794090	.	C	T	8237.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=3245;ExcessHet=0.1072;FS=1.737;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.66;ReadPosRankSum=0.898;SOR=0.598	GT:AD:DP:GQ:PL	0/1:119,141:260:99:3986,0,3287	19	0	2	0
chr17	21304480	21304480	A	T	exonic	MAP2K3	.	nonsynonymous SNV	MAP2K3:NM_002756:exon8:c.A536T:p.D179V	.	.	381	1110	31	0	0	31	0.0137717	.	.	727068	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.895	H	-3.16	D	0.979	D	0.944	D	0.968	4.142	21.4	3.9	0.747	7.345	10.597	0.847	0.464794937955	0.0005	.	0.0019	0	0.0014	0.0001	0	0.0010	0.0033	0.0090	0.0015718	243	154602	rs138917253	0.0006	0.0012	0.0004	0.0007	0.0079	0.0005	0.0005	0.0061	0.0054	0	0.0006	0.0043	0	0	0.0079	0.0002	0.0012	0.0044	0.0008	0.0009	0.0006	0.0010	0.0089	0.0007	0.0006	0.0068	0.0061	2.403e-05	0	0.0016	0.0055	0	0	0	0.0004	0.0019	0.0089	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	4.955	0.99831	H	-3.16	0.92996	D	-8.78	0.97757	D	0.969	0.98750	0.979	0.96843	D	0.944	0.98156	D	10	0.13991159	0.26598	T	0.464795	0.94577	D	0.847	0.95249	.	.	0.982758890268	0.98257	0.9652089549291394	0.96507	0.721303731507	0.62229	0.802632689476	0.82365	T	0.554346	0.84967	D	0.516752	0.94802	D	0.504502	0.94726	D	0.342278975922263	0.26714	T	0.998371	0.99212	D	0.96212345	0.97493	0.9379656	0.97633	0.96212345	0.97494	0.9379656	0.97633	-12.846	0.89281	D	.	.	1.0	0.99952	P	.;.;.;.	.;.;.;.	4.977128	0.82420	27.8	0.99416516453624582	0.63549	0.93551	0.58526	D	AEFDGBCI	0.925047	0.90398	D	0.891351639030804	0.91329	10.82895	0.722524506376995	0.84091	8.195875	0.999999998996492	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.98	3.9	0.44240	7.387000	0.79051	11.205000	0.89184	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.9237:0.0:0.0763:0.0	10.597	0.44533	814	0.42100	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1129.98	93	chr17	21304480	.	A	T	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=2188;ExcessHet=0.0000;FS=2.440;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.41;MQRankSum=0.769;QD=3.88;ReadPosRankSum=0.700;SOR=0.715	GT:AD:DP:GQ:PL	0/1:228,63:291:99:1144,0,6078	20	0	1	0
chr17	21415750	21415750	C	G	exonic	KCNJ12	.	nonsynonymous SNV	KCNJ12:NM_021012:exon3:c.C408G:p.F136L,	.	.	381	1118	23	0	0	23	0.0101815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	3.165	M	-4.71	D	1.098	D	0.966	D	0.948	4.955	28.8	5.23	2.448	5.956	18.791	0.958	0.545636291256	.	.	0.0002	0	8.654e-05	0	0	7.552e-05	0	0.0013	.	.	.	rs781875412	2.949e-05	0.0008	2.046e-05	3.863e-05	0.0009	2.222e-05	1.975e-05	0.0003	0.0002	0	4.48e-05	0.0001	0	0	0.0009	7.197e-06	6.646e-05	0.0002	0.0002	0.0006	0.0002	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	0	0	0.0002	0.0023	0	0	0	0.0001	0.0005	0.0033	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.48	0.92553	M	-4.71	0.98035	D	-5.88	0.88699	D	0.896	0.89577	1.098	0.99577	D	0.966	0.98927	D	10	0.85857594	0.85065	D	0.545636	0.95789	D	0.958	0.99315	0.927	0.98806	0.878391582298	0.87719	0.9717239762495926	0.97161	0.471099041256	0.46381	0.914981842041	0.97919	D	0.542138	0.84342	D	0.554816	0.95998	D	0.559178	0.95937	D	0.970819294452667	0.69087	D	0.944506	0.78979	D	0.6495103	0.75338	0.6813559	0.81274	0.6495103	0.75339	0.6813559	0.81275	-6.563	0.50770	T	.	.	0.997	0.96728	P	.;.	.;.	4.689164	0.75117	26.3	0.99871891625946685	0.94902	0.98578	0.84304	D	AEFDGBI	0.861279	0.77931	D	0.873581260021997	0.90406	10.38987	0.806051292425285	0.90211	10.30519	0.999999999999999	0.74766	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.23	5.23	0.72570	6.034000	0.70575	2.765000	0.34631	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.791	0.91939	856	0.34373	.;.	.	.	.	.	.	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	492.98	200	chr17	21415750	.	C	G	492.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.665;DP=4726;ExcessHet=0.0000;FS=4.390;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.00;MQRankSum=-7.854e+00;QD=2.12;ReadPosRankSum=-6.960e-01;SOR=1.070	GT:AD:DP:GQ:PL	0/1:197,35:232:99:507,0,7627	20	0	1	0
chr17	21415779	21415779	A	G	exonic	KCNJ12	.	nonsynonymous SNV	KCNJ12:NM_021012:exon3:c.A437G:p.Y146C,	.	.	378	1122	22	0	0	22	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.515	H	-5.12	D	1.068	D	0.978	D	0.868	3.957	20.2	5.32	2.019	9.171	15.280	0.963	0.459199930642	.	.	0.0002	0	0.0003	0	0	0.0001	0.0011	0.0009	.	.	.	rs782138834	6.172e-05	0.0009	4.501e-05	7.861e-05	0.0018	5.107e-05	4.727e-05	0.0010	0.0007	0	4.478e-05	0.0002	0	0	0.0018	1.439e-05	0.0001	0.0006	0.0003	0.0007	0.0003	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	0	0	0.0003	0.0032	0	0	0	0.0002	0.0005	0.0044	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.475	0.92503	M	-5.12	0.98731	D	-8.83	0.97830	D	0.972	0.98268	1.068	0.98541	D	0.978	0.99310	D	10	0.9367713	0.93006	D	0.459	0.94482	D	0.963	0.99463	.	.	0.806824881749	0.80501	0.9945135510146457	0.99448	0.509770243166	0.49108	0.874587655067	0.93218	D	0.682892	0.90706	D	0.539453	0.95452	D	0.537111	0.95385	D	0.997669994831085	0.92113	D	0.978802	0.92599	D	0.8941172	0.90863	0.7181423	0.83361	0.8941172	0.90864	0.7181423	0.83362	-10.462	0.76628	D	.	.	0.998	0.97160	P	.;.	.;.	5.412050	0.90588	31	0.99816643049989306	0.89973	0.98064	0.79293	D	AEFDGBI	0.951342	0.96581	D	0.964376757520922	0.94538	12.83714	0.886076537140839	0.94936	13.16848	0.999999999998906	0.74766	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.32	5.32	0.75377	9.158000	0.93873	11.264000	0.91177	0.749000	0.86810	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.280	0.73481	856	0.34373	.;.	.	.	.	.	.	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	524.98	208	chr17	21415779	.	A	G	524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.15;DP=4793;ExcessHet=0.0000;FS=1.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.63;MQRankSum=-7.542e+00;QD=2.12;ReadPosRankSum=-1.546e+00;SOR=0.815	GT:AD:DP:GQ:PL	0/1:208,40:248:99:539,0,7847	20	0	1	0
chr17	28674562	28674562	T	G	exonic	SUPT6H	.	nonsynonymous SNV	SUPT6H:NM_003170:exon4:c.T294G:p.D98E	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.565	P	0.132	B	0.000	D	1.000	D	0.21	N	.	.	-1.015	T	0.055	T	0.443	0.617	7.322	5.91	2.252	0.573	10.444	0.188	0.00328366234783	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1454968195	2.736e-06	2.736e-06	1.361e-06	4.125e-06	0.0002	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.07695	T	0.298	0.20486	T	0.565	0.38434	P	0.132	0.33005	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.44	0.12706	N	.	.	.	-1.53	0.37178	N	0.381	0.42247	-1.0154	0.25207	T	0.055	0.23148	T	9	0.06918031	0.09891	T	0.003284	0.07268	T	0.188	0.46444	0.297	0.26202	0.209943299407	0.20609	0.01664796881510687	0.01619	0.582242392059	0.53989	0.784314036369	0.79580	T	0.131658	0.46128	T	-0.0401283	0.45930	T	-0.295418	0.45207	T	0.254623953462859	0.23078	T	0.778122	0.41194	T	0.17228843	0.37911	0.14155094	0.33705	0.17228843	0.37910	0.14155094	0.33704	-2.492	0.05727	T	.	.	0.441	0.61770	A	.;.	.;.	2.603118	0.33792	19.44	0.79588438785489612	0.12810	0.95500	0.64968	D	AEFDBCI	0.375232	0.45984	N	-0.199728220668377	0.33145	1.877202	0.00209364236605217	0.39812	2.366322	0.775781743756975	0.23750	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.91	5.91	0.95240	0.811000	0.26855	3.553000	0.39056	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1138:0.0:0.8862	10.444	0.43672	256	0.89942	Spt6 acidic, N-terminal domain;Spt6 acidic, N-terminal 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	961.98	34	chr17	28674562	.	T	G	961.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=0.526;SOR=0.784	GT:AD:DP:GQ:PL	0/1:56,37:93:99:976,0,1487	20	0	1	0
chr17	28717652	28717652	A	C	exonic	RAB34	.	nonsynonymous SNV	RAB34:NM_001256281:exon1:c.T57G:p.I19M,	.	.	.	.	.	.	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1421872229	6.574e-06	5.472e-06	6.339e-06	6.826e-06	0.0002	2.83e-06	2.04e-06	2.16e-06	1.42e-06	0	0	0	0	0	0.0002	6.011e-06	1.986e-05	0	2.633e-05	2.628e-05	1.286e-05	4.043e-05	4.834e-05	8.15e-06	5.15e-06	8.01e-06	3e-06	4.834e-05	0	0	0	0	0	0	2.944e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10706499	0.19870	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025605	0.38682	T	.	.	.	.	.	.	.	.	.	0.514549	0.16570	T	.	.	.	.	.	.	.	.	-8.119	0.61879	D	.	.	0.275	0.50844	B	.;.;.;.	.;.;.;.	1.936994	0.24602	16.46	0.75396477047083088	0.11059	0.03192	0.08181	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999998756	0.74766	0.08998	0.02334	0	0.090139	0.02499	0	0.054209	0.00285	2	0.159066	0.04077	0	0.202171	0.30558	4.85	-1.14	0.09241	-0.660000	0.05416	-0.364000	0.09654	-0.590000	0.04653	0.000000	0.06391	0.000000	0.08366	0.653000	0.32775	0.2188:0.1688:0.4466:0.1658	2.144	0.03552	137	0.94565	.;.;.;.	.	.	.	.	.	Uncertain significance	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	900.98	33	chr17	28717652	.	A	C	900.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.52;ReadPosRankSum=2.40;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,23:40:99:0|1:28717649_T_C:915,0,645:28717649	20	0	1	0
chr17	28913174	28913174	A	G	exonic	PHF12	.	nonsynonymous SNV	PHF12:NM_001033561:exon9:c.T1397C:p.I466T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.651	P	0.116	B	0.001	N	0.981	D	1.59	L	-3.44	D	0.212	D	0.662	D	0.723	0.672	7.598	4.65	2.200	3.758	11.301	0.444	0.0443483314912	.	0.000199681	8.247e-06	0	0	0	0	0	0	6.062e-05	1.29e-05	2	154602	rs548258299	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.566e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.272	0.17126	T	0.631	0.19660	T	0.421	0.38282	B	0.054	0.31939	B	0.001139	0.40136	N	0.275863	0.981136	0.39742	D	1.845	0.48678	L	-3.44	0.94658	D	-0.49	0.15578	N	0.261	0.50958	0.212	0.86116	D	0.662	0.88272	D	10	0.08233628	0.13579	T	0.044348	0.61442	D	0.444	0.74657	0.234	0.16305	0.693712370028	0.69107	0.14320104886808568	0.14243	0.320216150028	0.34231	0.662559509277	0.61776	T	0.124612	0.44977	T	0.197928	0.73699	D	0.143388	0.79763	D	0.194785308598986	0.20123	T	0.882012	0.60217	D	0.09937479	0.23451	0.068525136	0.14320	0.09937479	0.23451	0.068525136	0.14320	-2.782	0.10519	T	.	.	0.576	0.67903	P	.;.;.	.;.;.	3.154152	0.42713	21.6	0.78215212397297762	0.12204	0.72826	0.35634	D	AEBCI	0.136708	0.25746	N	0.00963565612717194	0.42293	2.545484	0.157192561858995	0.47524	2.981364	0.999984118964482	0.51787	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.76	4.65	0.57626	3.799000	0.55233	9.320000	0.80036	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8642:0.0:0.0:0.1358	11.301	0.48542	300	0.87974	.;.;.	.	.	.	.	.	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	2400.98	35	chr17	28913174	.	A	G	2400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.229e+00;DP=915;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-3.730e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/1:101,96:197:99:2415,0,2673	20	0	1	0
chr17	29636533	29636533	G	T	exonic	SSH2	.	nonsynonymous SNV	SSH2:NM_033389:exon14:c.C1616A:p.A539D	.	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.302	B	0.143	B	0.498	N	1.000	D	1.79	L	1.33	T	-1.038	T	0.086	T	0.41	2.861	15.53	6.16	2.937	5.043	15.929	0.120	.	0.0038	0.000798722	0.0048	0.0006	0.0021	0	0.0194	0.0060	0.0055	0.0007	0.0044889	694	154602	rs144643694	0.0042	0.0042	0.0043	0.0042	0.0054	0.0041	0.0041	0.0042	0.0041	0.0007	0.0019	0.0018	2.519e-05	0.0168	0.0054	0.0043	0.0038	0.0013	0.0046	0.0046	0.0041	0.0051	0.0045	0.0043	0.0042	0.0041	0.0039	0.0007	0.1275	0.0019	0.0014	0	0.0179	0.0102	0.0045	0.0043	0.0017	0.002	0.72154	D	0.498	0.12002	T	0.201	0.32608	B	0.068	0.33763	B	0.498038	0.11981	N	0.787660	0.560634	0.31260	N	0.345	0.11182	N	1.33	0.35031	T	-0.06	0.07882	N	0.336	0.85872	-1.0379	0.17954	T	0.086	0.33354	T	10	0.002454728	0.00037	T	.	.	.	0.120	0.33359	.	.	0.147330786459	0.14319	0.576949111593385	0.57623	0.296197276613	0.32004	0.413520932198	0.26944	T	0.034352	0.23286	T	-0.4142	0.01864	T	-0.364021	0.37587	T	0.0335938275175117	0.02569	T	0.853415	0.53896	D	0.23037378	0.45791	0.38204578	0.63200	0.23037378	0.45791	0.38204578	0.63200	-3.01	0.10289	T	.	.	0.215	0.44488	B	.;.;.	.;.;.	3.687241	0.52517	23.2	0.99401588633233029	0.62841	0.96836	0.71202	D	AEFBI	0.426416	0.49078	N	0.299714649619932	0.56134	3.777769	0.454532466258918	0.65010	4.76974	0.983262605954836	0.30531	0.706548	0.73137	0	0.615513	0.52658	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.16	6.16	0.99302	5.139000	0.64642	10.001000	0.83042	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.966000	0.53164	0.0658:0.0:0.9342:0.0	15.929	0.79431	85	0.96447	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2775.98	33	chr17	29636533	.	G	T	2775.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.080e+00;DP=920;ExcessHet=0.0000;FS=0.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=0.326;SOR=0.637	GT:AD:DP:GQ:PL	0/1:117,105:222:99:2790,0,3228	20	0	1	0
chr17	35557548	35557548	A	G	exonic	SLFN14	.	nonsynonymous SNV	SLFN14:NM_001129820:exon3:c.T515C:p.V172A,	Bleeding disorder, platelet-type, 20, Autosomal dominant	.	432	1028	59	3	0	65	0.0306459	.	.	704096	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.52	T	0.002	B	0.003	B	.	.	1.000	N	0.57	N	4.61	T	-0.904	T	0.003	T	0.024	-1.174	0.087	-5.53	-1.341	-0.046	8.190	0.010	.	0.0044	0.00299521	0.0061	0.0009	0.0024	0	0	0.0056	0.0158	0.0083	0.0014295	221	154602	rs139678049	0.0038	0.0036	0.0036	0.0040	0.0237	0.0037	0.0037	0.0204	0.0192	0.0009	0.0025	0.0041	2.798e-05	0.0045	0.0237	0.0036	0.0050	0.0073	0.0036	0.0036	0.0034	0.0038	0.0068	0.0033	0.0032	0.0050	0.0044	0.0007	0.0044	0.0050	0.0052	0.0002	0.0047	0.0374	0.0046	0.0052	0.0068	1.0	0.00964	T	0.915	0.02917	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	4.61	0.01851	T	0.05	0.06369	N	0.041	0.01421	-0.9040	0.47561	T	0.003	0.01059	T	9	0.0035861135	0.00065	T	.	.	.	0.010	0.01040	.	.	0.0138822411134	0.00435	0.11388721241845448	0.11316	.	.	0.366298258305	0.20299	T	0.001263	0.00750	T	-0.756657	0.00016	T	-0.855377	0.00894	T	0.00295827883729636	0.00031	T	0.285971	0.05105	T	0.03821189	0.05047	0.056199078	0.09999	0.03821189	0.05047	0.056199078	0.09999	-2.862	0.08769	T	0.09477351242601473	0.06379	0.09	0.12607	B	.	.	-0.844807	0.01022	0.043	0.54133050744978661	0.05077	0.01037	0.03880	N	AEFDGBI	0.047602	0.08034	N	-1.35534628661118	0.03070	0.1365609	-1.45076427652503	0.02763	0.1276862	0.999961712661618	0.48965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.1	-5.53	0.02351	0.055000	0.14112	0.192000	0.15754	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.2592:0.151:0.5898:0.0	8.190	0.30522	0	0.99858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2106.98	33	chr17	35557548	.	A	G	2106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.367;DP=876;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=1.42;SOR=0.676	GT:AD:DP:GQ:PL	0/1:98,82:180:99:2121,0,2678	20	0	1	0
chr17	36166459	36166459	G	A	exonic	TBC1D3B;TBC1D3D;TBC1D3G;TBC1D3H;TBC1D3I;TBC1D3L	.	nonsynonymous SNV	TBC1D3L:NM_001369500:exon13:c.C1186T:p.R396W	.	.	854	666	2	0	0	2	0.00149925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.006	B	0.005	B	0.037	U	1.000	N	0	N	2.8	T	-1.000	T	0.014	T	0.068	-0.548	1.517	.	-1.351	-2.988	.	0.025	0.00303678376561	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1261322959	0.0043	0.0095	0.0042	0.0044	0.0097	0.0042	0.0041	0.0066	0.0056	0.0013	0.0012	0.0044	0.0001	0.0104	0.0097	0.0045	0.0052	0.0051	0.0005	0.0053	0.0007	0.0003	0.0010	0.0003	0.0003	0.0005	0.0004	0.0004	0	0.0002	0	0	0.0005	0	0.0008	0	0.0010	.	.	.	0.076	0.42614	T	0.006	0.13644	B	0.005	0.11217	B	0.037256	0.01830	U	3.742290	1	0.08975	N	0.55	0.14455	N	.	.	.	.	.	.	0.082	0.05799	-0.9999	0.29945	T	0.014	0.05417	T	8	0.046655566	0.03883	T	0.003037	0.06547	T	.	.	0.285	0.24280	0.043077524339	0.03247	0.04736729081309778	0.04679	.	.	0.469888746738	0.34664	T	0.059646	0.31171	T	-0.31402	0.07398	T	-0.688845	0.06457	T	0.124922193586826	0.14905	T	0.662034	0.27102	T	0.076892935	0.17418	0.054789677	0.09490	0.076892935	0.17418	0.054789677	0.09489	-5.019	0.37045	T	.	.	0.092	0.13737	B	.	.	0.734617	0.11040	7.694	0.89378065608881796	0.18745	0.00075	0.00520	N	AEFI	0.054260	0.09850	N	-1.68753855973778	0.00887	0.03838582	-1.76264038665202	0.00886	0.03962322	5.98549314846662E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	-0.291000	0.08379	-0.980000	0.06715	-2.119000	0.00386	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	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	0.05	30.19	33	chr17	36166459	.	G	A	30.19	.	AC=2;AF=0.050;AN=40;DP=328;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5571;MLEAC=1;MLEAF=0.025;MQ=20.00;QD=15.10;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	19	1	0	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	0/1:51,55:106:99:558,0,643	0	0	21	0
chr17	38330277	38330277	G	A	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.C3292T:p.R1098W,	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1449664	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.002	N	0.791	D	0.975	L	-0.28	T	-0.374	T	0.306	T	0.496	3.123	16.44	3.36	0.797	0.713	6.187	0.171	0.0395460527567	.	.	8.614e-05	0	0	0.0007	0	0	0	0.0003	6.47e-05	10	154602	rs184187735	1.858e-05	1.984e-05	2.188e-05	1.524e-05	0.0003	1.272e-05	1.091e-05	0.0002	0.0002	3.012e-05	0	0	0.0003	0	0	4.517e-06	1.668e-05	8.196e-05	1.969e-05	1.968e-05	0	4.028e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.394e-05	0	0	0	0	0.0006	0	0	0	0	0	.	.	.	0.04	0.50809	D	.	.	.	.	.	.	0.001615	0.38497	N	0.176487	0.790887	0.34385	D	.	.	.	.	.	.	.	.	.	0.301	0.34012	-0.3742	0.72833	T	0.306	0.67658	T	10	0.06333372	0.08234	T	0.039546	0.58871	D	.	.	.	.	0.352476196916	0.34857	0.30441671778245144	0.30354	.	.	0.328656613827	0.14730	T	.	.	.	-0.303498	0.08334	T	-0.289257	0.45851	T	0.344783992193004	0.26813	T	0.868713	0.57175	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.41031	B	.;.	.;.	3.959254	0.58061	23.9	0.99917679447083463	0.98518	0.25058	0.22584	N	AEFDGBI	.	.	.	0.061671955794141	0.44681	2.737747	-0.0209620477998499	0.38769	2.288931	0.999279293667664	0.38974	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.38	3.36	0.37579	1.075000	0.30328	4.053000	0.41524	0.676000	0.76740	0.443000	0.26511	1.000000	0.68203	0.978000	0.57271	0.0932:0.0:0.7151:0.1917	6.187	0.19720	126	0.94940	.;.	.	.	.	.	.	Uncertain significance	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	5651.98	35	chr17	38330277	.	G	A	5651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=1407;ExcessHet=0.0000;FS=1.101;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=0.316;SOR=0.604	GT:AD:DP:GQ:PL	0/1:211,209:420:99:5666,0,5198	20	0	1	0
chr17	38559641	38559641	G	C	exonic	SRCIN1	.	nonsynonymous SNV	SRCIN1:NM_025248:exon10:c.C1969G:p.L657V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.837	P	0.553	P	0.000	D	1.000	D	1.935	M	0.61	T	-0.791	T	0.172	T	0.561	3.701	18.80	5.01	2.346	6.108	11.386	0.127	0.0196171493864	0.0002	.	0.0006	0.0003	0.0002	0	0	0.0009	0	0.0005	0.0004786	74	154602	rs201844245	0.0010	0.0010	0.0010	0.0011	0.0012	0.0010	0.0010	0.0012	0.0011	0	6.719e-05	0.0001	0	4.443e-05	0	0.0012	0.0012	0.0007	0.0006	0.0006	0.0007	0.0005	0.0010	0.0005	0.0005	0.0008	0.0008	0.0003	0	0.0005	0	0	0	0	0.0010	0	0.0002	.	.	.	0.14	0.35082	T	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	0.999997	0.58761	D	.	.	.	.	.	.	.	.	.	0.728	0.75283	-0.7914	0.55648	T	0.172	0.51389	T	10	0.18037546	0.33218	T	0.019617	0.42029	T	.	.	.	.	0.209943299407	0.20609	0.4357127211280416	0.43488	.	.	0.623174011707	0.56178	T	.	.	.	-0.215715	0.18581	T	-0.123169	0.61541	T	0.184447273612022	0.19511	T	.	.	.	0.25689653	0.48731	0.23732969	0.49028	0.25689653	0.48731	0.23732969	0.49027	-12.165	0.85646	D	.	.	0.363	0.57386	A	.;.	.;.	3.603170	0.50905	23.0	0.99650083406711953	0.77254	0.89656	0.50260	D	ALL	0.756527	0.69576	D	0.470075059074697	0.65351	4.811549	0.509136861893224	0.68602	5.242932	1.0	0.98316	0.685219	0.55550	0	0.552344	0.17405	0	0.674405	0.61402	0	0.63947	0.58350	0	.	.	5.01	5.01	0.66477	6.244000	0.72346	5.679000	0.49287	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0889:0.0:0.9111:0.0	11.386	0.49026	192	0.92531	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1325.98	33	chr17	38559641	.	G	C	1325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.080e-01;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.00;ReadPosRankSum=0.352;SOR=0.708	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,35:78:99:0|1:38559641_G_C:1340,0,1674:38559641	20	0	1	0
chr17	41047198	41047198	A	G	exonic	KRTAP2-1	.	nonsynonymous SNV	KRTAP2-1:NM_001123387:exon1:c.T70C:p.C24R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.19	B	0.206	B	0.000	U	1.000	D	2.675	M	1.07	T	-0.795	T	0.173	T	0.367	3.835	19.47	5.9	2.246	2.439	12.700	0.242	0.0124865222642	.	.	0	0	0	0	0	0	0	0	.	.	.	rs754412288	0.0001	0.0001	5.204e-05	0.0002	0.0020	9.264e-05	8.682e-05	0.0017	0.0016	0	0	0	0	0	0	6.894e-06	3.752e-05	0.0020	3.966e-05	4.595e-05	0	8.121e-05	0.0011	1.724e-05	1.135e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.475e-05	0	0.0011	0.0	0.91255	D	0.0	0.92824	D	0.19	0.29379	B	0.206	0.37138	B	0.000447	0.44317	U	0.000000	0.999985	0.54805	D	3.75	0.95014	H	1.07	0.39586	T	-10.47	0.99043	D	0.391	0.43223	-0.7950	0.55438	T	0.173	0.51642	T	10	0.19661781	0.35561	T	0.012487	0.31109	T	0.242	0.54781	0.647	0.78436	0.577997890147	0.57469	0.16909318261358425	0.16829	.	.	0.597443699837	0.52544	T	0.046117	0.27328	T	-0.0460625	0.45043	T	-0.303942	0.44307	T	0.961654543876648	0.66143	D	.	.	.	0.9745894	0.98671	0.94515234	0.98100	0.9745894	0.98671	0.94515234	0.98100	-5.422	0.41130	T	.	.	0.400	0.60389	A	.;.	.;.	3.813732	0.55029	23.6	0.99557631902613086	0.71583	0.86678	0.46010	D	AEFBI	0.416652	0.48501	N	0.216252578197925	0.51986	3.375857	0.313509428768241	0.56331	3.796478	0.185075554945308	0.17925	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.9	5.9	0.94952	1.837000	0.38841	4.533000	0.43733	0.542000	0.25261	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	1.0:0.0:0.0:0.0	12.700	0.56395	420	0.81451	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	198.46	9	chr17	41047198	.	A	G	198.46	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.465e+00;DP=132;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0212;MLEAC=1;MLEAF=0.024;MQ=38.84;MQRankSum=1.47;QD=28.35;ReadPosRankSum=1.47;SOR=0.527	GT:AD:DP:GQ:PL	0/1:1,6:7:15:212,0,15	20	0	1	0
chr17	41065513	41065513	G	0	exonic	KRTAP2-4	.	.	.	.	.	421	1053	32	2	14	50	0.0168067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	899.24	34	chr17	41065513	.	G	A,*	899.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=2.70;DP=910;ExcessHet=0.6776;FS=0.479;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=56.55;MQRankSum=-4.000e-01;QD=3.41;ReadPosRankSum=0.826;SOR=0.639	GT:AD:DP:GQ:PL	0/2:52,0,13:65:99:392,549,2712,0,2163,2121	17	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	1/1:0,56,0:56:99:2425,160,0,2434,169,2442	6	11	3	0
chr17	41382308	41382308	A	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.T65C:p.L22P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.976	D	0.556	P	.	.	0.999	D	0	N	.	.	-1.043	T	0.078	T	0.65	0.858	8.471	5.17	2.241	1.916	5.942	0.134	0.018428726593	.	.	8.238e-06	0	0	0	0	0	0.0011	0	7.76e-05	12	154602	rs756013781	5.481e-06	0.0003	8.182e-06	2.754e-06	2.236e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.403e-06	1.659e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.003	0.76473	D	0.976	0.58310	D	0.556	0.49411	P	.	.	.	.	0.999455	0.47118	D	1.245	0.31408	L	-1.89	0.84557	D	.	.	.	0.669	0.67736	-1.0427	0.16503	T	0.078	0.31042	T	8	0.66327584	0.70279	D	0.018429	0.40491	T	.	.	0.428	0.47515	0.761221526906	0.75905	0.03657958571385173	0.03604	0.342438391368	0.36184	0.435077399015	0.29903	T	0.021796	0.16915	T	0.121469	0.66520	D	-0.0632948	0.66101	T	0.91840136051178	0.57665	D	0.333767	0.07077	T	0.1847125	0.39799	0.32490122	0.58410	0.1847125	0.39799	0.32490122	0.58410	-3.974	0.23413	T	.	.	0.079	0.07130	B	.	.	1.715876	0.21849	15.37	0.98901740872576172	0.48199	0.67040	0.33290	D	AEFDBCI	0.211856	0.33761	N	0.136755772330337	0.48185	3.034055	0.188891208117852	0.49238	3.129369	0.733449985707655	0.23090	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.869000	0.39156	2.221000	0.31450	0.660000	0.55035	0.999000	0.42656	1.000000	0.68203	0.332000	0.25247	0.7462:0.1678:0.086:0.0	5.942	0.18435	167	0.93508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	515.5	33	chr17	41382308	.	A	G	515.5	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.707e+00;DP=1692;ExcessHet=2.5830;FS=114.231;InbreedingCoeff=-0.1984;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.52;ReadPosRankSum=0.774;SOR=10.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,23:168:99:0|1:41382308_A_G:131,0,5629:41382308	14	0	7	0
chr17	41382311	41382311	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62C:p.R21T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.049	B	0.026	B	.	.	0.998	N	0	N	.	.	-1.026	T	0.039	T	0.473	0.716	7.813	-0.174	0.122	-0.215	4.436	0.084	0.00843288255634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.114e-05	0.0014	3.86e-05	2.362e-05	3.828e-05	2.374e-05	2.119e-05	2.866e-05	2.541e-05	0	0	3.836e-05	2.523e-05	0	0	3.828e-05	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.28764	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	0.997716	0.22540	N	0.755	0.19153	N	-1.61	0.82254	D	.	.	.	0.508	0.53972	-1.0258	0.21821	T	0.039	0.16892	T	8	0.18996203	0.34618	T	0.008433	0.22307	T	.	.	0.37	0.38013	0.612421581757	0.60929	0.08565298375764323	0.08499	0.0546681382285	0.06050	0.306222051382	0.11336	T	0.02167	0.16835	T	-0.00440713	0.51045	T	-0.244107	0.50396	T	0.0275842688571556	0.01628	T	0.50295	0.15803	T	0.07200823	0.15984	0.06444694	0.12916	0.07200823	0.15984	0.06444694	0.12916	-3.403	0.15097	T	.	.	0.119	0.24294	B	.	.	1.042832	0.14237	10.81	0.88324392343806579	0.17887	0.65189	0.32654	D	AEFDBCI	0.111491	0.22072	N	-0.660458155333548	0.17157	0.8804225	-0.554068222297903	0.20697	1.116332	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Uncertain significance	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	438.29	101	chr17	41382311	.	C	G,T	438.29	.	AC=5,2;AF=0.119,0.048;AN=42;BaseQRankSum=-4.980e+00;DP=1764;ExcessHet=2.5830;FS=106.599;InbreedingCoeff=-0.1982;MLEAC=5,2;MLEAF=0.119,0.048;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.860;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,23,0:170:99:0|1:41382308_A_G:125,0,5719,566,5787,6354:41382308	14	0	5	0
chr17	41382311	41382311	C	T	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62A:p.R21K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.001	B	.	.	1.000	N	0	N	.	.	-1.031	T	0.039	T	0.176	1.278	10.17	-0.174	0.122	-0.215	4.436	0.072	0.00559261676492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.27235	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999663	0.20745	N	1.1	0.28011	L	-1.55	0.81727	D	.	.	.	0.199	0.21969	-1.0308	0.20195	T	0.039	0.16935	T	8	0.08334431	0.13855	T	0.005593	0.14439	T	.	.	0.293	0.25560	0.657325010897	0.65446	0.07906609140832596	0.07841	0.0402348126993	0.04305	0.306056171656	0.11311	T	0.021002	0.16432	T	-0.119232	0.33249	T	-0.409045	0.32335	T	0.0497427848752955	0.05455	T	0.382662	0.09313	T	0.069265865	0.15160	0.074363045	0.16259	0.069265865	0.15160	0.074363045	0.16259	-2.912	0.09264	T	.	.	0.091	0.13080	B	.	.	1.087164	0.14705	11.26	0.93968684478021924	0.24041	0.45317	0.27512	N	AEFDBCI	0.063292	0.12223	N	-0.668850020287515	0.16912	0.8658866	-0.557939429380533	0.20595	1.110326	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Uncertain significance	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	438.29	101	chr17	41382311	.	C	G,T	438.29	.	AC=5,2;AF=0.119,0.048;AN=42;BaseQRankSum=-4.980e+00;DP=1764;ExcessHet=2.5830;FS=106.599;InbreedingCoeff=-0.1982;MLEAC=5,2;MLEAF=0.119,0.048;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.860;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,23,0:170:99:0|1:41382308_A_G:125,0,5719,566,5787,6354:41382308	14	0	5	0
chr17	41382313	41382313	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G60C:p.E20D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.682	P	0.142	B	.	.	0.996	N	0	N	.	.	-1.079	T	0.031	T	0.258	1.036	9.231	4.2	1.489	1.219	9.384	0.057	0.0112921981246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.07059	T	0.682	0.41464	P	0.142	0.33681	B	.	.	.	.	0.995951	0.23155	N	1.1	0.28011	L	-1.61	0.82254	D	.	.	.	0.319	0.35938	-1.0787	0.07602	T	0.031	0.13330	T	8	0.1758697	0.32541	T	0.011292	0.28764	T	.	.	0.215	0.13498	0.749038299637	0.74677	0.027389334383383892	0.02688	0.0406601577266	0.04362	0.292538791895	0.09292	T	0.021114	0.16497	T	-0.035849	0.46564	T	-0.289271	0.45849	T	0.188235579082126	0.19740	T	0.391661	0.09743	T	0.077502705	0.17596	0.08187276	0.18640	0.077502705	0.17595	0.08187276	0.18640	-4.176	0.26403	T	.	.	0.107	0.19919	B	.	.	1.323781	0.17281	13.07	0.98311074385310038	0.40144	0.83088	0.42236	D	AEFDBCI	0.178885	0.30617	N	-0.267547482617439	0.30410	1.695319	-0.155453402914047	0.33199	1.896604	0.828972100147742	0.24658	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	4.2	0.48814	1.950000	0.39948	0.265000	0.16590	0.596000	0.33519	0.898000	0.31380	0.000000	0.08366	0.407000	0.26939	0.0:0.8322:0.0:0.1678	9.384	0.37494	167	0.93508	.	.	.	.	.	.	Uncertain significance	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	263.85	46	chr17	41382313	.	C	G,T	263.85	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-5.135e+00;DP=1402;ExcessHet=1.1607;FS=111.246;InbreedingCoeff=-0.1348;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=0.938;SOR=9.490	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:146,0,23:169:99:0|1:41382308_A_G:128,566,6323,0,5757,5689:41382308	16	0	3	0
chr17	44904956	44904956	C	T	exonic	FAM187A	.	nonsynonymous SNV	FAM187A:NM_001258400:exon1:c.C1127T:p.S376L,	.	.	425	1033	62	2	0	66	0.0309568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.103	B	0.01	B	0.370	N	1.000	N	.	.	0.97	T	-1.024	T	0.051	T	0.121	0.726	7.861	2.32	0.906	0.341	4.057	0.069	.	.	0.00259585	0.0091	0.0011	0.0068	0	0	0.0013	0.0146	0.0181	0.0013713	212	154602	rs555402721	0.0023	0.0022	0.0017	0.0028	0.0176	0.0022	0.0022	0.0168	0.0165	0.0002	0.0009	0.0004	2.798e-05	0.0007	0.0114	0.0013	0.0028	0.0176	0.0016	0.0016	0.0014	0.0019	0.0172	0.0015	0.0014	0.0142	0.0131	0.0002	0	0.0023	0	0.0002	0.0004	0.0170	0.0016	0.0043	0.0172	0.465	0.08609	T	0.62	0.07444	T	0.103	0.25884	B	0.01	0.14941	B	0.369594	0.04354	N	1.395560	1	0.08975	N	1.7	0.43825	L	0.97	0.42502	T	-1.04	0.27259	N	0.175	0.18784	-1.0236	0.22541	T	0.051	0.21883	T	9	0.004670471	0.00098	T	.	.	.	0.069	0.20116	.	.	0.447609009685	0.44385	0.5473808828241131	0.54664	.	.	0.285807311535	0.08314	T	0.008464	0.07774	T	-0.616405	0.00116	T	-0.64392	0.09385	T	0.0016297578096169	0.00017	T	0.733627	0.34942	T	0.042301055	0.06391	0.033432566	0.02237	0.042301055	0.06391	0.033432566	0.02236	-2.481	0.05653	T	.	.	0.094	0.14523	B	.	.	1.401737	0.18160	13.58	0.63598281148254254	0.07266	0.13302	0.17779	N	AEFDGBHCI	.	.	.	-0.809649728053484	0.13063	0.6409545	-0.827799331297762	0.13823	0.7191289	0.999999166461778	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.54	2.32	0.27895	0.358000	0.19952	2.301000	0.32018	0.599000	0.40250	0.000000	0.06391	0.011000	0.20116	0.043000	0.14563	0.2172:0.4511:0.0:0.3317	4.057	0.09301	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2889.98	38	chr17	44904956	.	C	T	2889.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.240e-01;DP=962;ExcessHet=0.0000;FS=1.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-8.370e-01;SOR=0.710	GT:AD:DP:GQ:PL	0/1:102,115:217:99:2904,0,2470	20	0	1	0
chr17	50150123	50150123	A	T	exonic	PPP1R9B	.	nonsynonymous SNV	PPP1R9B:NM_032595:exon1:c.T391A:p.S131T,	.	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503884576113	.	.	0.0006	0	0	0	0	0	0	0.0008	1.94e-05	3	154602	rs763277337	3.745e-05	3.762e-05	3.289e-05	4.217e-05	0.0004	2.886e-05	2.586e-05	0.0003	0.0002	0	6.255e-05	0	0	0	0.0003	1.963e-05	3.871e-05	0.0004	1.975e-05	1.969e-05	0	4.039e-05	0.0004	5.25e-06	2.46e-06	7.282e-05	3.026e-05	0	0	0	0	0	0	0	1.473e-05	0	0.0004	.	.	.	0.173	0.30143	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.12484	.	.	.	.	.	.	.	0.05236152	0.05258	T	0.503885	0.95195	D	.	.	.	.	0.4517682171	0.44797	0.19809050560711078	0.19726	.	.	0.906659841537	0.97145	D	0.014456	0.12303	T	-0.333467	0.05853	T	-0.37184	0.36675	T	.	.	.	0.369963	0.08710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03162	B	.	.	2.707942	0.35391	19.88	0.94787252316435278	0.25523	0.69606	0.34255	D	ALL	0.113759	0.22432	N	.	.	.	.	.	.	0.999999999996797	0.74766	0.162408	0.03677	1	0.098	0.03038	0	0.132232	0.03703	1	0.088244	0.02422	0	.	.	2.91	1.73	0.23565	0.677000	0.24942	4.031000	0.41338	0.551000	0.28136	0.156000	0.23741	1.000000	0.68203	0.995000	0.73285	0.6235:0.0:0.3765:0.0	2.863	0.05248	835	0.38313	.	.	.	.	.	.	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	502.98	30	chr17	50150123	.	A	T	502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.252e+00;DP=665;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.79;ReadPosRankSum=1.64;SOR=0.874	GT:AD:DP:GQ:PL	0/1:16,18:34:99:517,0,501	20	0	1	0
chr17	50375548	50375548	G	A	exonic	EME1	.	nonsynonymous SNV	EME1:NM_001166131:exon2:c.G340A:p.D114N	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.589	P	0.173	B	0.268	N	1.000	N	0.805	L	2.93	T	-0.995	T	0.019	T	0.01	0.692	7.698	1.55	0.192	0.398	4.102	0.082	0.0039438804424	0.0002	0.000399361	0.0006	9.667e-05	0.0004	0	0	0.0010	0	0	0.0006274	97	154602	rs141978919	0.0007	0.0007	0.0007	0.0007	0.0008	0.0006	0.0006	0.0008	0.0008	5.974e-05	0.0004	0	0	0.0001	0.0007	0.0008	0.0006	1.159e-05	0.0006	0.0006	0.0007	0.0004	0.0010	0.0005	0.0004	0.0008	0.0007	9.627e-05	0	0.0006	0	0	0	0	0.0010	0.0014	0	0.356	0.12265	T	0.49	0.11551	T	0.589	0.39027	P	0.173	0.35463	B	0.267994	0.03753	N	1.548680	1	0.08975	N	2.24	0.63355	M	2.92	0.09915	T	-0.56	0.17003	N	0.034	0.00942	-0.9950	0.31299	T	0.019	0.07846	T	10	0.01262635	0.00271	T	0.003944	0.09305	T	0.082	0.23913	.	.	0.479744053436	0.47606	0.0998765619554847	0.09918	0.0586537782296	0.06507	0.273420512676	0.06592	T	0.014886	0.12588	T	-0.667929	0.00056	T	-0.791402	0.02127	T	0.00917345447956903	0.00116	T	0.506949	0.16072	T	0.028409453	0.02174	0.024341479	0.00452	0.028409453	0.02174	0.024341479	0.00452	-3.013	0.10321	T	.	.	0.075	0.05491	B	.;.;.	.;.;.	1.050968	0.14322	10.90	0.98962370616025741	0.49364	0.07399	0.13418	N	AEFBI	.	.	.	-0.745366698623857	0.14759	0.7379715	-0.803957845092292	0.14400	0.7521947	0.991271013165037	0.32432	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.7	1.55	0.22356	0.428000	0.21114	1.844000	0.29209	-0.123000	0.13640	0.000000	0.06391	0.092000	0.22550	0.376000	0.26245	0.2913:0.1836:0.5251:0.0	4.102	0.09491	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	1	0	0	0	0.02381	2914.98	180	chr17	50375548	.	G	A	2914.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=2664;ExcessHet=0.0000;FS=0.505;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=0.615;SOR=0.767	GT:AD:DP:GQ:PL	0/1:103,107:210:99:2929,0,2838	20	0	1	0
chr17	58203086	58203086	A	T	exonic	EPX	.	nonsynonymous SNV	EPX:NM_000502:exon11:c.A1714T:p.N572Y,	.	.	1	1414	102	5	0	112	0.0380952	.	.	704251	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	D	1.000	D	3.57	H	-0.89	T	0.222	D	0.428	T	0.899	4.113	21.2	5.83	2.231	5.949	14.155	0.714	.	0.0052	0.0131789	0.0097	0.0010	0.0026	0.0404	0.0005	0.0057	0.0100	0.0242	0.0090426	1398	154602	rs2302311	0.0072	0.0072	0.0066	0.0079	0.0356	0.0071	0.0071	0.0341	0.0335	0.0011	0.0028	0.0041	0.0356	0.0005	0.0262	0.0055	0.0089	0.0238	0.0060	0.0060	0.0057	0.0064	0.0363	0.0057	0.0056	0.0320	0.0304	0.0013	0.0175	0.0037	0.0063	0.0363	0.0005	0.0136	0.0064	0.0052	0.0255	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000087	0.51296	D	0.229393	0.999894	0.50595	D	3.395	0.91620	M	-0.89	0.74793	T	-7.26	0.94377	D	0.855	0.85132	0.222	0.86286	D	0.428	0.77055	T	10	0.011209935	0.00246	T	.	.	.	0.714	0.89831	.	.	0.907641921367	0.90672	0.9397424012326949	0.93955	0.60966715383	0.55685	0.618428587914	0.55507	T	0.73717	0.92690	D	0.0215653	0.54591	T	0.293971	0.87906	D	0.0441071641916809	0.04439	T	0.918408	0.70674	D	0.93080324	0.94318	0.9297195	0.97075	0.91762865	0.93020	0.9297195	0.97076	-10.78	0.78437	D	0.6057418395158497	0.67300	0.721	0.73813	P	.	.	4.624316	0.73463	26.0	0.9931117169918775	0.59017	0.98284	0.81251	D	AEFDHI	0.846482	0.76336	D	0.902057263412658	0.91858	11.10306	0.8354303646208	0.92136	11.25628	0.995667577349472	0.34254	0.533608	0.22052	0	0.593476	0.48661	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	5.936000	0.69869	9.239000	0.79409	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	14.155	0.64945	569	0.70546	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2291.68	36	chr17	58203086	.	A	T	2291.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.937;DP=835;ExcessHet=0.3300;FS=3.309;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.915;SOR=0.928	GT:AD:DP:GQ:PL	0/1:46,28:74:99:712,0,1179	18	0	3	0
chr17	58362569	58362569	C	T	exonic	RNF43	.	nonsynonymous SNV	RNF43:NM_001305545:exon5:c.G281A:p.R94Q	Sessile serrated polyposis cancer syndrome, Autosomal dominant	.	412	1101	9	0	0	9	0.00407056	.	.	1158062	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.832	P	0.000	D	0.634	D	0.345	N	3.03	T	-1.054	T	0.004	T	0.427	4.720	26.3	5.43	2.546	1.896	6.712	0.092	.	0.0004	0.0119808	0.0053	0.0006	0.0005	0.0635	0	0.0002	0.0011	0.0040	0.0047671	737	154602	rs2285990	0.0025	0.0025	0.0024	0.0025	0.0732	0.0024	0.0024	0.0710	0.0701	0.0003	0.0004	0	0.0732	1.897e-05	0.0078	0.0001	0.0033	0.0034	0.0025	0.0025	0.0020	0.0030	0.0625	0.0023	0.0022	0.0569	0.0547	0.0003	0	0.0003	0	0.0625	0	0	0.0002	0.0033	0.0029	0.037	0.43085	D	0.058	0.51737	T	0.995	0.67487	D	0.586	0.50343	P	0.000327	0.45700	D	0.143641	0.634237	0.32817	D	2.045	0.56016	M	3.03	0.11839	T	-1.56	0.37759	N	0.162	0.31478	-1.0543	0.13225	T	0.004	0.01226	T	10	0.0034153461	0.00060	T	.	.	.	0.092	0.26621	.	.	0.361758802978	0.35793	0.5819916512828146	0.58128	0.485448467925	0.47424	0.428022623062	0.28939	T	0.101641	0.40859	T	-0.492579	0.00629	T	-0.435542	0.29307	T	0.0186628427300254	0.00580	T	0.839616	0.51418	T	0.1146076	0.27055	0.07755855	0.17290	0.10236735	0.24187	0.07755855	0.17289	-3.924	0.24980	T	.	.	0.115	0.24901	B	.;.;.;.;.;.	.;.;.;.;.;.	4.577423	0.72282	25.8	0.99919000861204932	0.98586	0.70449	0.34595	D	AEFDBI	0.114732	0.22587	N	0.331703696119902	0.57781	3.947035	0.407202300854773	0.62014	4.409869	0.999999989745851	0.74766	0.646311	0.45356	0	0.546412	0.12157	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.43	5.43	0.79006	1.986000	0.40299	3.374000	0.37954	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.1787:0.7285:0.0:0.0928	6.712	0.22469	308	0.87611	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1203.98	34	chr17	58362569	.	C	T	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=781;ExcessHet=0.0000;FS=0.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=1.36;SOR=0.821	GT:AD:DP:GQ:PL	0/1:41,46:87:99:1218,0,977	20	0	1	0
chr17	61867572	61867572	A	T	exonic	INTS2	.	nonsynonymous SNV	INTS2:NM_001330417:exon25:c.T3576A:p.S1192R	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.815	P	0.571	P	0.000	D	0.999	D	1.1	L	0.73	T	-1.052	T	0.125	T	0.739	3.119	16.42	3.75	0.508	1.663	9.593	0.155	0.0331832097732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.015	0.61642	D	0.815	0.45525	P	0.571	0.49890	P	0.000000	0.84330	D	0.038185	0.998624	0.45182	D	0.895	0.22405	L	0.73	0.50721	T	-1.27	0.31981	N	0.314	0.50327	-1.0515	0.13981	T	0.125	0.43008	T	9	0.1588819	0.29866	T	0.033183	0.54805	D	0.155	0.40530	0.23	0.15705	0.413198161389	0.40934	0.8807853389601046	0.88046	0.631884088958	0.57135	0.747660517693	0.74101	T	0.062991	0.32060	T	0.0587418	0.59456	T	-0.153398	0.58942	T	0.633145570755005	0.37749	D	0.914509	0.69499	D	0.74697816	0.80693	0.43452838	0.66969	0.74697816	0.80694	0.43452838	0.66969	-3.497	0.16389	T	.	.	0.859	0.82066	P	.;.;.;.	.;.;.;.	3.161345	0.42834	21.6	0.99733559554066675	0.82975	0.96809	0.71055	D	AEFBI	0.363669	0.45248	N	0.111139070074781	0.46981	2.930389	0.162876007886428	0.47829	3.007262	9.83887616474661E-4	0.08091	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.96	3.75	0.42236	1.638000	0.36780	2.641000	0.33754	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8587:0.0:0.1413:0.0	9.593	0.38724	40	0.97949	.;.;.;.	.	.	.	.	.	Uncertain significance	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	309.98	37	chr17	61867572	.	A	T	309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=781;ExcessHet=0.0000;FS=4.315;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.08;ReadPosRankSum=-9.020e-01;SOR=1.414	GT:AD:DP:GQ:PL	0/1:45,16:61:99:324,0,1010	20	0	1	0
chr17	63818263	63818274	CAAGATGGAGCC	-	exonic	DDX42	.	nonframeshift deletion	DDX42:NM_203499:exon18:c.2682_2693del:p.M900_K903del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.671e-05	0	0	0	0	1.524e-05	0	6.087e-05	3.84e-05	1	26028	rs758130833	1.71e-05	1.71e-05	1.225e-05	2.2e-05	2.987e-05	1.174e-05	9.92e-06	1.213e-05	1.03e-05	2.987e-05	0	0	0	0	0	1.888e-05	3.311e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2642.94	34	chr17	63818262	.	GCAAGATGGAGCC	G	2642.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.721;DP=840;ExcessHet=0.0000;FS=1.353;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.01;ReadPosRankSum=0.399;SOR=0.842	GT:AD:DP:GQ:PL	0/1:69,70:139:99:2657,0,2664	20	0	1	0
chr17	65193569	65193569	C	T	exonic	RGS9	.	nonsynonymous SNV	RGS9:NM_001081955:exon12:c.C764T:p.S255L	Bradyopsia	.	0	1453	66	3	0	72	0.0241773	.	.	177291	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.39	T	0.005	B	0.008	B	0.895	N	1.000	N	0.265	N	1.77	T	-0.993	T	0.005	T	0.124	0.756	8.002	-2.42	-0.633	-1.119	3.740	0.008	.	0.0013	0.0161741	0.0095	0.0006	0.0046	0.0310	0.0112	0.0027	0.0144	0.0337	0.0085898	1328	154602	rs12452285	0.0052	0.0052	0.0043	0.0060	0.0402	0.0051	0.0050	0.0386	0.0379	0.0004	0.0041	0.0078	0.0402	0.0092	0.0208	0.0014	0.0075	0.0342	0.0050	0.0051	0.0042	0.0060	0.0338	0.0048	0.0046	0.0297	0.0281	0.0003	0	0.0069	0.0084	0.0338	0.0106	0.0306	0.0021	0.0104	0.0330	0.533	0.07140	T	0.364	0.16766	T	0.004	0.12996	B	0.005	0.13708	B	0.894996	0.08660	N	0.956108	1	0.08975	N	-0.245	0.03879	N	1.77	0.25841	T	-1.88	0.44284	N	0.139	0.13769	-0.9934	0.31722	T	0.005	0.01615	T	10	0.0018083751	0.00024	T	.	.	.	0.008	0.00669	.	.	0.295623431141	0.29171	0.40981414253841425	0.40897	0.163159783007	0.18410	0.422357261181	0.28161	T	0.022342	0.63366	T	-0.666907	0.00057	T	-0.70498	0.05558	T	0.00227030650160815	0.00024	T	0.743826	0.36376	T	0.06679562	0.14405	0.053073827	0.08868	0.06560212	0.14035	0.06338211	0.12547	-5.984	0.47125	T	0.055369267226966966	0.01226	0.051	0.00199	B	.;.;.;.	.;.;.;.	0.374779	0.07468	4.108	0.80115924886704315	0.13052	0.01742	0.05496	N	AEFDGBHCI	0.041638	0.06357	N	-1.25891773679573	0.04184	0.1883233	-1.2419042002241	0.05252	0.2498028	0.999989128191357	0.51787	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.83	-2.42	0.06164	-0.773000	0.04795	-0.240000	0.10600	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.914000	0.44937	0.114:0.2403:0.112:0.5337	3.740	0.08054	403	0.82567	G-protein gamma-like domain|G-protein gamma-like domain|G-protein gamma-like domain;G-protein gamma-like domain|G-protein gamma-like domain|G-protein gamma-like domain;.;G-protein gamma-like domain|G-protein gamma-like domain|G-protein gamma-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1497.98	34	chr17	65193569	.	C	T	1497.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.660e-01;DP=820;ExcessHet=0.0000;FS=2.329;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=0.086;SOR=0.510	GT:AD:DP:GQ:PL	0/1:58,60:118:99:1512,0,1435	20	0	1	0
chr17	65558578	65558578	T	C	exonic	AXIN2	.	nonsynonymous SNV	AXIN2:NM_001363813:exon2:c.A43G:p.S15G	Colorectal cancer, somatic;Oligodontia-colorectal cancer syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	574606	Hereditary_cancer-predisposing_syndrome|Oligodontia-cancer_predisposition_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0012075,MedGen:C1837750,OMIM:608615,Orphanet:300576	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.7	T	0.043	B	0.017	B	0.000	D	1.000	D	1.15	L	-0.07	T	-0.730	T	0.277	T	0.218	1.504	10.98	4.74	1.757	2.520	13.242	0.115	0.0286691070825	.	.	4.239e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs759551291	2.261e-05	2.257e-05	5.455e-06	3.993e-05	0.0004	1.613e-05	1.419e-05	0.0003	0.0002	0	0	0	0	0	0	0	3.312e-05	0.0004	6.565e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.435	0.20381	T	0.495	0.11515	T	0.043	0.21573	B	0.017	0.18140	B	0.000000	0.84330	D	0.046113	0.999724	0.48557	D	.	.	.	-0.07	0.77206	T	-0.32	0.19085	N	0.191	0.26957	-0.7302	0.58953	T	0.277	0.64835	T	10	0.074406296	0.11370	T	0.028669	0.51308	D	0.115	0.32236	0.107	0.01868	0.67593064658	0.67318	0.336595948457001	0.33572	0.168730885514	0.19026	0.526816606522	0.42586	T	0.217724	0.58551	T	-0.280139	0.10652	T	-0.318211	0.42770	T	0.0641446767970214	0.07803	T	0.870213	0.57527	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.02639	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.083879	0.41495	21.4	0.8659770641010156	0.16643	0.78317	0.38621	D	AEFDBCI	0.452531	0.50604	N	-0.303547657460449	0.29012	1.605197	-0.135089467718812	0.33988	1.950041	0.999999999244395	0.74766	0.72623	0.87236	0	0.627608	0.54475	0	0.594344	0.31042	0	0.491896	0.07777	0	.	.	4.74	4.74	0.59717	3.094000	0.49919	7.753000	0.68172	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.242	0.59430	898	0.25240	.;Axin-1/2, tankyrase-binding domain|Axin-1/2, tankyrase-binding domain;Axin-1/2, tankyrase-binding domain|Axin-1/2, tankyrase-binding domain;Axin-1/2, tankyrase-binding domain|Axin-1/2, tankyrase-binding domain;Axin-1/2, tankyrase-binding domain|Axin-1/2, tankyrase-binding domain;Axin-1/2, tankyrase-binding domain|Axin-1/2, tankyrase-binding domain;Axin-1/2, tankyrase-binding domain|Axin-1/2, tankyrase-binding domain;Axin-1/2, tankyrase-binding domain|Axin-1/2, tankyrase-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1362.98	34	chr17	65558578	.	T	C	1362.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.030e+00;DP=883;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-6.910e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/1:53,56:109:99:1377,0,1388	20	0	1	0
chr17	66176972	66176972	C	T	exonic	CEP112	.	nonsynonymous SNV	CEP112:NM_001199165:exon3:c.G155A:p.G52E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.383	B	0.116	B	0.039	N	1.000	D	2.125	M	0.87	T	-0.891	T	0.118	T	0.665	3.818	19.39	3.33	1.245	1.535	11.872	0.157	0.0192139142075	.	0.000199681	6.594e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs537743865	3.079e-05	3.078e-05	8.17e-06	5.364e-05	0.0005	2.347e-05	2.095e-05	0.0004	0.0003	0	0	0	0	0	0	8.995e-07	0	0.0005	1.971e-05	1.969e-05	1.286e-05	2.687e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	0	0	0.0006	0.002	0.72154	D	0.014	0.62352	D	0.383	0.34425	B	0.116	0.31939	B	0.038628	0.24263	N	0.369222	0.841926	0.35081	D	2.2	0.62015	M	0.87	0.46412	T	-2.33	0.53736	N	0.594	0.62357	-0.8906	0.48881	T	0.118	0.41385	T	10	0.092728525	0.16354	T	0.019214	0.41510	T	0.157	0.40909	0.394	0.41935	0.232513804876	0.22884	0.458883684692556	0.45806	0.501200625212	0.48514	0.649745762348	0.59950	T	0.027647	0.43092	T	-0.212896	0.18974	T	-0.22162	0.52580	T	0.211447218693555	0.21029	T	0.89781	0.66280	D	0.3352726	0.55901	0.49342355	0.70700	0.3352726	0.55901	0.49342355	0.70700	-5.994	0.46229	T	.	.	0.574	0.68110	P	.;.;.;.	.;.;.;.	4.724920	0.76035	26.4	0.99767378569520515	0.85583	0.70666	0.34685	D	AEFBI	0.114431	0.22540	N	0.0515877187242134	0.44216	2.69969	0.116168212419302	0.45375	2.801808	1.16337357325912E-4	0.05269	0.706298	0.61202	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.33	3.33	0.37245	1.589000	0.36253	7.447000	0.58926	0.599000	0.40250	0.941000	0.32681	1.000000	0.68203	0.993000	0.69303	0.0:0.8545:0.0:0.1455	11.872	0.51805	851	0.35303	Domain of unknown function DUF4485;Domain of unknown function DUF4485;Domain of unknown function DUF4485;Domain of unknown function DUF4485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1834.98	33	chr17	66176972	.	C	T	1834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.879;DP=849;ExcessHet=0.0000;FS=2.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-1.383e+00;SOR=0.963	GT:AD:DP:GQ:PL	0/1:75,76:151:99:1849,0,1830	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	0/1:55,47,0:102:99:1763,0,2134,1930,2275,4206	14	1	5	0
chr17	68903472	68903472	G	A	exonic	ABCA8	.	nonsynonymous SNV	ABCA8:NM_001375771:exon18:c.C2243T:p.A748V	.	.	437	1049	35	1	0	37	0.0173302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.003	B	0.005	B	0.441	N	1.000	N	0.84	L	-0.97	T	-1.002	T	0.193	T	0.028	1.003	9.097	-4.32	-0.846	-0.967	3.460	0.052	.	0.0003	0.00199681	0.0017	0	0	0	0	0.0004	0.0044	0.0107	0.0014683	227	154602	rs184161214	0.0010	0.0010	0.0007	0.0014	0.0115	0.0010	0.0010	0.0109	0.0107	2.987e-05	0.0005	0.0002	0	0	0.0066	0.0003	0.0016	0.0115	0.0008	0.0008	0.0006	0.0010	0.0148	0.0007	0.0006	0.0120	0.0110	4.822e-05	0	0.0003	0.0003	0.0002	0	0	0.0005	0.0014	0.0148	0.568	0.06381	T	0.491	0.14412	T	0.002	0.09854	B	0.002	0.06944	B	0.440630	0.04758	N	1.409270	1	0.08975	N	0.695	0.17993	N	-0.97	0.75670	T	0.58	0.03041	N	0.069	0.04188	-1.0025	0.29197	T	0.193	0.54667	T	10	0.0037364364	0.00069	T	.	.	.	0.052	0.14661	.	.	0.469578130381	0.46583	0.14823423802511468	0.14745	0.0573251470501	0.06345	0.262227773666	0.05158	T	0.037209	0.37060	T	-0.61317	0.00121	T	-0.644158	0.09368	T	0.00532305861954774	0.00058	T	0.275172	0.06971	T	0.019498836	0.00482	0.031217244	0.01680	0.019498836	0.00482	0.031217244	0.01680	.	.	.	.	.	0.067	0.03266	B	.;.;.	.;.;.	-0.368211	0.02333	0.251	0.70904960446772303	0.09450	0.05502	0.11389	N	AEFBHCI	0.136810	0.25760	N	-1.48736639363359	0.01938	0.08510498	-1.53869890657539	0.02055	0.09393695	9.66251316486085E-5	0.04910	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.43	-4.32	0.03433	-0.756000	0.04882	-6.269000	0.01447	-0.546000	0.04920	0.000000	0.06391	0.000000	0.08366	0.103000	0.18424	0.1687:0.2995:0.4231:0.1087	3.460	0.07097	964	0.07719	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	5514.92	34	chr17	68903472	.	G	A	5514.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.740e-01;DP=1042;ExcessHet=0.6776;FS=0.547;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=0.198;SOR=0.762	GT:AD:DP:GQ:PL	0/1:54,50:104:99:1327,0,1290	17	0	4	0
chr17	69301282	69301282	A	G	exonic	ABCA5	.	nonsynonymous SNV	ABCA5:NM_018672:exon8:c.T1124C:p.M375T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.936	P	0.652	P	0.000	N	0.999	D	0.915	L	1.48	T	-1.107	T	0.083	T	0.45	2.321	13.72	4.93	1.980	7.605	14.936	0.173	0.0202168449393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.24183	T	0.318	0.19246	T	0.936	0.52359	P	0.652	0.52532	P	0.000077	0.52346	N	0.082858	0.999333	0.46701	D	1.175	0.29870	L	1.48	0.31731	T	-1.48	0.36189	N	0.713	0.72299	-1.1074	0.03302	T	0.083	0.32614	T	9	0.37948006	0.54085	T	0.020217	0.42769	T	0.173	0.43840	0.431	0.48007	0.81020416286	0.80842	0.697767657475153	0.69717	0.238078467474	0.26356	0.666366755962	0.62320	T	0.198301	0.68120	T	-0.0698179	0.41355	T	-0.338065	0.40563	T	0.936165571212769	0.60495	D	0.887611	0.61581	D	0.22534423	0.45194	0.23230419	0.48387	0.22534423	0.45194	0.23230419	0.48386	-4.339	0.28720	T	.	.	0.622	0.69775	P	.;.;.	.;.;.	4.200985	0.63389	24.6	0.94401167180468748	0.24790	0.97205	0.73310	D	AEFBI	0.875163	0.79842	D	0.341465346896758	0.58291	4.000429	0.409680266131998	0.62166	4.427694	0.995908107525902	0.34398	0.732398	0.92422	0	0.743671	0.97443	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	4.93	4.93	0.64394	7.574000	0.81754	11.174000	0.88071	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	1.0:0.0:0.0:0.0	14.936	0.70602	978	0.04198	.;.;.	.	.	.	.	.	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	527.98	33	chr17	69301282	.	A	G	527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.670e-01;DP=699;ExcessHet=0.0000;FS=5.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=1.29;SOR=0.124	GT:AD:DP:GQ:PL	0/1:22,18:40:99:542,0,742	20	0	1	0
chr17	73236741	73236741	A	G	exonic	C17orf80	.	nonsynonymous SNV	C17orf80:NM_001100621:exon3:c.A1259G:p.Q420R	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.0	B	0.002	B	0.000	N	1.000	N	0.205	N	2.91	T	-1.001	T	0.017	T	0.041	0.544	6.942	-3.17	-0.680	-0.262	6.212	0.034	0.00272654647243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	0.02562	T	0.799	0.04104	T	0.0	0.02946	B	0.002	0.06944	B	0.000059	0.00387	N	4.068360	1	0.08975	N	1.01	0.25309	L	2.71	0.12055	T	-0.98	0.25986	N	0.053	0.02462	-1.0011	0.29602	T	0.017	0.07092	T	10	0.04053971	0.02631	T	0.002727	0.05637	T	0.034	0.08419	0.096	0.01287	0.0138822411134	0.00435	0.030013735505194393	0.02950	0.0321073474294	0.03340	.	.	.	0.008051	0.07409	T	-0.404078	0.02176	T	-0.818206	0.01489	T	0.0475469429147924	0.05062	T	0.513049	0.16451	T	0.025148539	0.01421	0.035120875	0.02704	0.025148539	0.01421	0.035120875	0.02704	-3.273	0.13634	T	.	.	0.070	0.08081	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.911249	0.00907	0.034	0.60541334276654069	0.06488	0.01728	0.05467	N	AEFBI	0.042406	0.06576	N	-1.49853534714335	0.01860	0.08160253	-1.51236882101275	0.02249	0.1031269	0.997154674303258	0.35326	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.87	-3.17	0.04882	-0.304000	0.08238	-1.788000	0.04725	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4238:0.1446:0.4317:0.0	6.212	0.19848	419	0.81524	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1628.98	114	chr17	73236741	.	A	G	1628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.530e-01;DP=2299;ExcessHet=0.0000;FS=0.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=-6.380e-01;SOR=0.731	GT:AD:DP:GQ:PL	0/1:87,68:155:99:1643,0,3423	20	0	1	0
chr17	74443910	74443910	C	A	exonic	GPRC5C	.	nonsynonymous SNV	GPRC5C:NM_001366261:exon3:c.C1144A:p.P382T	.	.	428	1062	31	1	0	33	0.015299	0.0016	0.084	2808331	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.983	D	0.775	P	0.039	N	1.000	D	0.69	N	2.3	T	-1.062	T	0.037	T	0.409	0.274	5.483	5.18	2.421	0.808	16.203	0.063	.	0.0015	0.00299521	0.0028	0.0003	0.0034	0	0.0003	0.0026	0.0055	0.0076	0.0026132	404	154602	rs142708564	0.0020	0.0020	0.0018	0.0023	0.0081	0.0020	0.0019	0.0076	0.0074	0.0005	0.0026	0.0036	2.522e-05	0.0006	0.0064	0.0016	0.0028	0.0081	0.0018	0.0018	0.0017	0.0019	0.0100	0.0016	0.0016	0.0077	0.0069	0.0007	0	0.0029	0.0046	0	0.0003	0.0136	0.0017	0.0057	0.0100	0.189	0.21224	T	0.35	0.17478	T	0.007	0.14184	B	0.007	0.12992	B	0.038911	0.24230	N	0.412978	0.647707	0.81001	D	.	.	.	2.27	0.17431	T	-1.11	0.28703	N	0.239	0.36779	-1.0620	0.11263	T	0.037	0.15943	T	10	0.004352629	0.00088	T	.	.	.	0.063	0.18251	.	.	0.0884992946249	0.08302	.	.	0.322169024805	0.34410	0.363022744656	0.19826	T	0.035498	0.23742	T	-0.483618	0.00705	T	-0.462754	0.26300	T	0.0174253554794817	0.00479	T	0.827917	0.49191	T	.	.	.	.	.	.	.	.	-4.327	0.28554	T	.	.	0.077	0.06387	B	.;.;.	.;.;.	1.828629	0.23235	15.94	0.78202249606816954	0.12199	0.48080	0.28127	N	AEFGBCI	0.596388	0.59058	D	-0.313090028819374	0.28649	1.582026	-0.211977405103111	0.31103	1.757264	0.999999286446192	0.74766	0.643511	0.44296	0	0.633656	0.55848	0	0.688494	0.62686	0	0.604944	0.38103	0	.	.	5.18	5.18	0.71140	1.896000	0.39421	1.768000	0.28610	0.599000	0.40250	0.639000	0.28076	1.000000	0.68203	0.114000	0.18915	0.0:1.0:0.0:0.0	16.203	0.81921	692	0.58729	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1387.98	35	chr17	74443910	.	C	A	1387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.400e-02;DP=806;ExcessHet=0.0000;FS=0.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=-1.146e+00;SOR=0.787	GT:AD:DP:GQ:PL	0/1:53,56:109:99:1402,0,1305	20	0	1	0
chr17	74893515	74893515	-	GGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.80_81insTACGGAGCCCATGGAACCTACGGAGCCCATGGAACC:p.P33_A34insTEPMEPTEPMEP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:21,0,11,0,0:32:99:0|1:74893497_CGGTTCCATGGGCTCCGTA_C:294,363,1202,0,839,805,363,1202,839,1202,363,1202,839,1202,1202:74893497	12	1	1	0
chr17	74893515	74893515	-	GGTTCCATGGGCTCCGTA	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.80_81insTACGGAGCCCATGGAACC:p.P33_A34insTEPMEP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:21,0,11,0,0:32:99:0|1:74893497_CGGTTCCATGGGCTCCGTA_C:294,363,1202,0,839,805,363,1202,839,1202,363,1202,839,1202,1202:74893497	12	1	1	0
chr17	74893497	74893497	-	CATGGGCTCCGTA	exonic	FADS6	.	frameshift insertion	FADS6:NM_178128:exon1:c.98_99insTACGGAGCCCATG:p.A34Tfs*256,	.	.	429	803	98	141	51	431	0.191339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	7.691e-05	0.0002	0.0011	0.0001	9.685e-05	0.0005	0.0003	3.3e-05	2.49e-05	0.0008	0	0.0009	0.0011	4.107e-05	0.0002	0.0005	0.0003	0.0003	0.0003	0.0004	0.0018	0.0002	0.0002	0.0009	0.0006	9.334e-05	0	8.304e-05	0	0	0.0013	0	0.0003	0.0006	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:21,0,11,0,0:32:99:0|1:74893497_CGGTTCCATGGGCTCCGTA_C:294,363,1202,0,839,805,363,1202,839,1202,363,1202,839,1202,1202:74893497	12	1	1	0
chr17	74930587	74930587	G	A	exonic	OTOP2	.	nonsynonymous SNV	OTOP2:NM_178160:exon6:c.G952A:p.G318R,	.	.	426	1014	80	2	0	84	0.0397727	.	.	704366	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.55	T	0.009	B	0.008	B	0.915	N	1.000	N	-0.345	N	2.0	T	-0.955	T	0.014	T	0.11	-1.407	0.022	-1.72	-0.224	-0.393	7.43	0.013	.	0.0056	0.00419329	0.0077	0.0014	0.0020	0.0003	0.0005	0.0069	0.0089	0.0259	0.0070633	1092	154602	rs141455683	0.0071	0.0071	0.0063	0.0078	0.0260	0.0070	0.0069	0.0250	0.0247	0.0012	0.0029	0.0123	0.0002	0.0008	0.0260	0.0063	0.0077	0.0259	0.0049	0.0049	0.0049	0.0049	0.0222	0.0046	0.0045	0.0188	0.0175	0.0014	0.0011	0.0030	0.0089	0.0006	0.0005	0.0136	0.0069	0.0066	0.0222	0.524	0.07163	T	0.502	0.11115	T	0.009	0.15093	B	0.008	0.13708	B	0.915206	0.07441	N	1.037460	1	0.08975	N	0.55	0.14455	N	2.0	0.21473	T	1.04	0.01332	N	0.071	0.04426	-0.9554	0.40024	T	0.014	0.05705	T	10	0.003012538	0.00049	T	.	.	.	0.013	0.01715	0.332	0.31843	0.0297737177859	0.01360	0.1529508724129356	0.15217	0.191530735651	0.21486	0.232459336519	0.02155	T	0.008023	0.07382	T	-0.673912	0.00052	T	-0.721208	0.04737	T	0.000571438700328689	0.00005	T	0.342266	0.07430	T	0.028871108	0.02291	0.052443184	0.08640	0.028871108	0.02290	0.052443184	0.08639	-3.992	0.23683	T	.	.	0.073	0.04889	B	.;.	.;.	0.111383	0.05106	1.639	0.49088204705005861	0.04150	0.07585	0.13596	N	AEFGBI	0.122439	0.23758	N	-1.4242460922757	0.02427	0.1071593	-1.40111998355244	0.03241	0.150791	0.719820147298435	0.22918	0.549168	0.22868	0	0.59043	0.45803	0	0.590023	0.30420	0	0.542086	0.14980	0	.	.	5.32	-1.72	0.07671	-0.361000	0.07664	-0.207000	0.10889	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4099:0.105:0.4851:0.0	7.43	0.26294	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2115.98	37	chr17	74930587	.	G	A	2115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=999;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=1.15;SOR=0.675	GT:AD:DP:GQ:PL	0/1:118,85:203:99:2130,0,2973	20	0	1	0
chr17	75498997	75498997	G	A	exonic	TMEM94	.	nonsynonymous SNV	TMEM94:NM_001321148:exon30:c.G3943A:p.V1315M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.989	D	0.787	P	0.000	D	0.999	D	0.69	N	-3.88	D	0.587	D	0.789	D	0.489	2.673	14.90	5.88	2.782	4.945	7.716	0.564	0.344701925898	7.7e-05	.	6.799e-05	0.0002	0	0	0	9.22e-05	0	0	5.17e-05	8	154602	rs370635593	1.034e-05	1.779e-05	9.593e-06	1.11e-05	5.988e-05	6.21e-06	4.92e-06	9.92e-06	3.71e-06	5.988e-05	0	0	0	0	0	9.024e-06	3.333e-05	1.163e-05	6.573e-06	6.567e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.041	0.42199	D	0.039	0.66756	D	0.989	0.62824	D	0.787	0.57594	P	0.000012	0.62929	D	0.062160	0.997437	0.45564	D	.	.	.	-3.88	0.95953	D	-0.7	0.19933	N	0.44	0.49965	0.587	0.91720	D	0.789	0.92850	D	10	0.4784781	0.60287	T	0.344702	0.92109	D	0.564	0.82175	.	.	0.894543483838	0.89349	0.5002404560327638	0.49945	1.12647056711	0.78467	0.555823802948	0.46678	T	0.36399	0.72965	T	-0.0162962	0.49381	T	0.0182503	0.71516	D	0.218820333411321	0.21405	T	0.957604	0.84101	D	0.044919744	0.07265	0.06045251	0.11514	0.044919744	0.07265	0.06045251	0.11514	-3.375	0.14722	T	.	.	0.239	0.47327	B	.;.;.;.	.;.;.;.	4.974487	0.82356	27.8	0.96629686340348608	0.30513	0.75150	0.36783	D	AEFDGBHCI	0.490742	0.52809	N	0.531543895834664	0.68965	5.290475	0.603534108197197	0.75194	6.268013	0.999999999771194	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	5.88	5.88	0.94564	4.975000	0.63494	11.695000	0.94414	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1903:0.0:0.8097:0.0	7.716	0.27872	976	0.04745	Cation-transporting P-type ATPase, C-terminal;Cation-transporting P-type ATPase, C-terminal;Cation-transporting P-type ATPase, C-terminal;Cation-transporting P-type ATPase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1115.98	34	chr17	75498997	.	G	A	1115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.296;DP=825;ExcessHet=0.0000;FS=1.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=1.16;SOR=0.508	GT:AD:DP:GQ:PL	0/1:41,47:88:99:1130,0,922	20	0	1	0
chr17	75571720	75571720	G	A	exonic	LLGL2	.	nonsynonymous SNV	LLGL2:NM_001031803:exon18:c.G2230A:p.A744T	.	.	427	1088	7	0	0	7	0.0032066	.	.	704375	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.999	D	0.000	N	1.000	D	2.125	M	3.56	T	-1.200	T	0.046	T	0.668	3.951	20.2	5.4	2.544	9.552	19.161	0.266	.	0.0073	0.00259585	0.0068	0.0016	0.0045	0	0.0063	0.0105	0.0012	0.0007	0.0066364	1026	154602	rs148020757	0.0085	0.0085	0.0085	0.0084	0.0097	0.0083	0.0083	0.0096	0.0095	0.0009	0.0048	0.0178	0	0.0055	0.0028	0.0097	0.0074	0.0007	0.0065	0.0065	0.0069	0.0061	0.0099	0.0062	0.0061	0.0093	0.0091	0.0018	0.0011	0.0056	0.0202	0	0.0060	0.0034	0.0099	0.0095	0.0008	0.083	0.33585	T	0.177	0.29740	T	0.866	0.73220	P	0.517	0.65306	P	0.000000	0.84330	N	0.048273	1	0.81001	D	1.425	0.35738	L	3.44	0.05375	T	-2.19	0.49352	N	0.654	0.66959	-1.2002	0.00148	T	0.046	0.19919	T	10	0.009711862	0.00218	T	.	.	.	0.266	0.57999	.	.	0.728675624038	0.72626	0.653425146839852	0.65278	0.226262998433	0.25180	0.623384654522	0.56207	T	0.121822	0.44506	T	-0.333535	0.05848	T	-0.241489	0.50653	T	0.0372441637138232	0.03198	T	0.860814	0.55431	D	0.48738548	0.66347	0.32098234	0.58049	0.48738548	0.66347	0.32098234	0.58049	-6.22	0.48085	T	.	.	0.222	0.52776	B	.;.;.	.;.;.	5.033306	0.83731	28.1	0.97728672514960369	0.35604	0.96766	0.70824	D	AEFDGBCI	0.945191	0.95319	D	0.796035136911625	0.85859	8.703205	0.789783498702796	0.89074	9.828102	1.0	0.98316	0.695654	0.57023	0	0.655437	0.61614	1	0.723109	0.80598	0	0.620204	0.46100	0	.	.	5.4	5.4	0.77957	9.685000	0.97921	9.971000	0.82862	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	0.0:0.0:1.0:0.0	19.161	0.93518	981	0.03995	.;.;.	MRPL38|MRPL38	Spleen|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	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	753.98	45	chr17	75571720	.	G	A	753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.960e-01;DP=785;ExcessHet=0.0000;FS=3.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=-1.747e+00;SOR=1.017	GT:AD:DP:GQ:PL	0/1:46,29:75:99:768,0,1281	20	0	1	0
chr17	75904860	75904860	A	G	exonic	MRPL38	.	nonsynonymous SNV	MRPL38:NM_032478:exon1:c.T16C:p.W6R,	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.679	P	0.146	B	0.216	U	1.000	D	1.61	L	1.55	T	-1.093	T	0.056	T	0.546	2.447	14.14	3.36	0.739	0.615	6.069	0.151	0.360057109932	.	0.000998403	0.0018	0	0	0	0	0.0040	0.0086	0.0010	0.0004269	66	154602	rs566150682	0.0047	0.0045	0.0048	0.0047	0.0042	0.0046	0.0046	0.0041	0.0040	0.0004	0.0013	0.0038	3.224e-05	0.0474	0.0015	0.0042	0.0046	0.0007	0.0067	0.0067	0.0049	0.0086	0.0063	0.0063	0.0062	0.0058	0.0056	0.0007	0	0.0013	0.0039	0	0.0567	0	0.0063	0.0057	0.0009	0.029	0.45756	D	0.033	0.53072	D	0.679	0.41373	P	0.146	0.33945	B	0.216012	0.16251	U	0.353696	1	0.81001	D	2.3	0.65703	M	1.55	0.29866	T	-0.41	0.14000	N	0.417	0.45709	-1.0928	0.05082	T	0.056	0.23565	T	10	0.006161213	0.00139	T	0.360057	0.92489	D	0.151	0.39764	0.666	0.80401	0.219573609325	0.21563	0.3582979833173833	0.35743	0.732726945152	0.62802	0.755910933018	0.75321	T	0.007621	0.07015	T	-0.409516	0.02002	T	-0.349342	0.39280	T	0.0787164563936236	0.09821	T	0.590841	0.21745	T	0.25623605	0.48662	0.23441918	0.48658	0.25623605	0.48662	0.23441918	0.48657	-2.028	0.03288	T	.	.	0.437	0.61567	A	.	.	2.307293	0.29529	18.15	0.97363928222197305	0.33588	0.08830	0.14700	N	AEFGBHCIJ	0.165388	0.29187	N	-0.382858359099233	0.26079	1.420604	-0.393484089551366	0.25190	1.38383	0.999999999999799	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.44	3.36	0.37579	1.277000	0.32772	3.605000	0.39235	0.651000	0.53179	0.951000	0.33123	1.000000	0.68203	0.070000	0.16646	0.6017:0.3138:0.0845:0.0	6.069	0.19105	839	0.37672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	222.98	31	chr17	75904860	.	A	G	222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.980e-01;DP=539;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.87;ReadPosRankSum=0.689;SOR=0.418	GT:AD:DP:GQ:PL	0/1:6,9:15:99:237,0,157	20	0	1	0
chr17	76926662	76926662	C	T	exonic	MGAT5B	.	nonsynonymous SNV	MGAT5B:NM_198955:exon9:c.C1256T:p.T419M	.	.	430	1083	8	1	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.917	D	0.000	D	1.000	D	1.905	M	0.85	T	-0.607	T	0.248	T	0.614	3.608	18.36	4.16	1.123	5.909	14.727	0.103	0.0318467257553	0.0006	0.000199681	0.0006	0.0002	0.0002	0	0	0.0007	0	0.0013	0.0005045	78	154602	rs140999399	0.0004	0.0004	0.0003	0.0004	0.0015	0.0003	0.0003	0.0013	0.0012	0.0002	0.0002	0.0074	2.519e-05	0	0.0014	0.0001	0.0010	0.0015	0.0004	0.0004	0.0004	0.0005	0.0010	0.0003	0.0003	0.0004	0.0003	0.0003	0	0.0001	0.0084	0	0	0	0.0002	0.0005	0.0010	0.1	0.32141	T	0.101	0.38891	T	0.999	0.77913	D	0.917	0.65306	D	0.000029	0.55875	D	0.119054	0.999991	0.58761	D	2.77	0.80896	M	0.85	0.47130	T	-1.35	0.33598	N	0.753	0.76573	-0.6067	0.64540	T	0.248	0.61774	T	10	0.015783906	0.00331	T	0.031847	0.53829	D	0.103	0.29403	.	.	0.623294314964	0.62023	0.6392828590584474	0.63863	2.04482054115	0.94296	0.738225460052	0.72711	T	0.115693	0.43447	T	-0.30156	0.08513	T	-0.246479	0.50164	T	0.0704513595022109	0.08714	T	0.973003	0.90263	D	0.13266745	0.30885	0.19231085	0.42738	0.13266745	0.30884	0.19231085	0.42737	-9.603	0.72778	D	.	.	0.162	0.35829	B	.;.;.	.;.;.	5.193781	0.87119	29.1	0.99821325371101666	0.90414	0.93538	0.58490	D	AEFDGBI	0.739065	0.68374	D	0.562775875519243	0.70865	5.564515	0.528830498182764	0.69938	5.432349	0.980275192244256	0.30118	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.14	4.16	0.48138	5.991000	0.70275	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8543:0.1457:0.0	14.727	0.68967	946	0.12043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1846.98	39	chr17	76926662	.	C	T	1846.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.889;DP=929;ExcessHet=0.0000;FS=3.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-4.330e-01;SOR=0.469	GT:AD:DP:GQ:PL	0/1:70,71:141:99:1861,0,1687	20	0	1	0
chr17	78451519	78451519	G	A	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon66:c.C10684T:p.L3562F,	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.974	D	0.874	P	0.000	D	1.000	D	4.14	H	1.34	T	0.072	D	0.355	T	0.6	5.047	29.9	5.2	2.430	7.846	18.739	0.434	0.0342041138146	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs772270560	1.574e-05	1.573e-05	8.169e-06	2.338e-05	0.0005	1.048e-05	8.75e-06	0.0001	0.0001	0	0	0	0	0	0.0005	8.995e-07	3.313e-05	0.0002	6.57e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000020	0.62929	D	0.000000	0.999999	0.58761	D	.	.	.	1.34	0.34841	T	.	.	.	0.762	0.76481	0.072	0.83659	D	0.355	0.71766	T	10	0.7836381	0.78062	D	0.034204	0.55518	D	0.434	0.73951	.	.	0.304108284078	0.30024	0.8412484373662918	0.84084	.	.	0.80820775032	0.83218	D	.	.	.	-0.165106	0.25977	T	-0.20064	0.54585	T	0.984633207321167	0.75878	D	0.941406	0.78138	D	0.26197255	0.49257	0.25887418	0.51626	0.26197255	0.49256	0.25887418	0.51625	-12.4	0.86745	D	0.7950933963943959	0.87291	0.890	0.82098	P	.;.	.;.	4.612287	0.73149	25.9	0.99828440159395559	0.91026	0.98019	0.78921	D	AEFDGBI	0.935189	0.92967	D	0.967891929472064	0.94667	12.94143	0.87291634822986	0.94281	12.640	0.999999999999903	0.74766	0.643511	0.44296	0	0.688494	0.66719	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.2	5.2	0.71720	7.970000	0.87602	11.654000	0.93914	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.739	0.91730	895	0.25842	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	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	1321.98	33	chr17	78451519	.	G	A	1321.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.189;DP=786;ExcessHet=0.0000;FS=0.824;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.53;ReadPosRankSum=0.112;SOR=0.551	GT:AD:DP:GQ:PL	0/1:41,50:91:99:1336,0,1083	20	0	1	0
chr17	78490699	78490699	G	A	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon44:c.C6818T:p.P2273L,	.	YES	427	1094	1	0	0	1	0.00045683	0.8989	0.79	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	2.735	M	-2.87	D	0.847	D	0.840	D	0.675	4.442	23.6	4.45	2.187	6.269	17.443	0.698	0.51565270476	.	.	2.666e-05	0	0	0	0	4.668e-05	0	0	1.94e-05	3	154602	rs756979831	4.816e-06	5.472e-06	6.835e-06	2.77e-06	1.18e-05	2e-06	1.29e-06	1.95e-06	1.28e-06	0	0	0	0	0	0	5.418e-06	0	1.18e-05	1.971e-05	1.97e-05	1.285e-05	2.689e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999991	0.58761	D	.	.	.	-2.87	0.91478	D	.	.	.	0.704	0.70790	0.847	0.94995	D	0.840	0.94652	D	6	0.8662783	0.85873	D	0.515653	0.95369	D	0.698	0.89099	.	.	0.794473698002	0.79256	0.6612520519874178	0.66062	.	.	0.639833748341	0.58540	T	.	.	.	0.259668	0.79499	D	0.135218	0.79233	D	0.94514137506485	0.62203	D	0.889111	0.62070	D	0.2215926	0.44739	0.25958383	0.51708	0.2215926	0.44739	0.25958383	0.51707	-9.543	0.71126	D	.	.	0.296	0.52704	B	.;.	.;.	5.239870	0.87964	29.4	0.99875044825477988	0.95244	0.95477	0.64876	D	AEFDBI	0.790113	0.71910	D	0.768156177881802	0.84082	8.189286	0.69097121727494	0.81694	7.586698	0.999945610215287	0.47345	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.45	4.45	0.53365	6.041000	0.70625	11.429000	0.92735	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:0.0:1.0:0.0	17.443	0.87464	909	0.22467	.;.	.	.	.	.	.	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	1291.98	35	chr17	78490699	.	G	A	1291.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.39;DP=802;ExcessHet=0.0000;FS=1.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-2.750e-01;SOR=0.519	GT:AD:DP:GQ:PL	0/1:61,48:109:99:1306,0,1457	20	0	1	0
chr17	78570252	78570252	C	T	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon7:c.G1039A:p.E347K,	.	.	331	1185	6	0	0	6	0.00252525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.278	B	0.157	B	0.807	N	0.936	N	2.22	M	0.52	T	-0.927	T	0.169	T	0.392	2.317	13.71	3.77	1.010	1.669	8.108	0.226	0.0249672655463	0.0004	0.000199681	0.0001	0.0009	0	0	0	5.074e-05	0	0	7.12e-05	11	154602	rs141770758	4.123e-05	4.173e-05	3.6e-05	4.657e-05	0.0009	3.247e-05	2.973e-05	0.0006	0.0005	0.0009	2.526e-05	0	0	0	0.0009	1.094e-05	0.0001	6.138e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0005	0.0004	0.0007	0	0	0	0	0	0	2.942e-05	0.0005	0	0.198	0.20532	T	.	.	.	.	.	.	.	.	.	0.806726	0.09282	N	0.873451	0.93551	0.26942	N	2.975	0.85398	M	0.52	0.55266	T	-2.13	0.48354	N	0.564	0.58798	-0.9273	0.44530	T	0.169	0.50923	T	10	0.08257532	0.13645	T	0.024967	0.47953	T	0.226	0.52472	.	.	0.146414634003	0.14194	0.3010478820796234	0.30017	.	.	0.519189417362	0.41512	T	0.017406	0.14204	T	-0.318924	0.06986	T	-0.355339	0.38593	T	0.0986082553863525	0.12204	T	0.820318	0.47908	T	0.19516203	0.41295	0.34185627	0.59919	0.19516203	0.41294	0.34185627	0.59919	-4.518	0.31123	T	.	.	0.130	0.27939	B	.;.	.;.	3.495765	0.48888	22.7	0.99693897826467692	0.80112	0.82748	0.41934	D	AEFBI	0.355989	0.44753	N	-0.226843075427539	0.32036	1.802485	-0.154078122714712	0.33252	1.90014	4.5856421154228E-4	0.07036	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.74	3.77	0.42499	2.136000	0.41744	2.602000	0.33527	-0.804000	0.03133	0.959000	0.33545	0.990000	0.31317	0.804000	0.37906	0.0:0.7509:0.1616:0.0875	8.108	0.30061	890	0.26919	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2073.98	35	chr17	78570252	.	C	T	2073.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=864;ExcessHet=0.0000;FS=1.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=1.53;SOR=0.550	GT:AD:DP:GQ:PL	0/1:75,82:157:99:2088,0,1653	20	0	1	0
chr17	79082003	79082003	C	G	exonic	ENGASE	.	stopgain	ENGASE:NM_001042573:exon7:c.C978G:p.Y326X,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.290	22.4	-2.55	-0.302	-0.288	11.777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.876	0.87373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471834	0.93405	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.652076	0.96729	36	0.99382637859050438	0.61979	0.55475	0.29873	D	AEFDBHCI	0.183104	0.31044	N	0.0294483900341819	0.43199	2.617454	-0.283299432148282	0.28647	1.598954	0.479139086092817	0.20771	0.706548	0.73137	0	0.723109	0.82256	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.46	-2.55	0.05922	-0.269000	0.08626	-4.250000	0.02257	-0.800000	0.03169	0.377000	0.25981	0.000000	0.08366	0.361000	0.25909	0.0:0.4142:0.0:0.5858	11.777	0.51261	917	0.20147	Glycoside hydrolase, family 85	.	.	.	.	.	Uncertain significance	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	1621.98	34	chr17	79082003	.	C	G	1621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=960;ExcessHet=0.0000;FS=0.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=-1.765e+00;SOR=0.823	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1636,0,1787	20	0	1	0
chr17	79784435	79784435	A	G	exonic	CBX2	.	nonsynonymous SNV	CBX2:NM_005189:exon5:c.A992G:p.H331R,	.	.	0	1512	10	0	0	10	0.00329598	.	.	2142004	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.82	T	0.068	B	0.013	B	0.733	N	1.000	D	0.695	N	.	.	-1.073	T	0.119	T	0.219	-0.131	3.358	3.51	0.764	1.637	11.257	0.075	0.0119079555924	0.0002	0.000399361	0.0003	0	0.0003	0	0	0.0003	0	0.0007	0.000207	32	154602	rs201075939	0.0002	0.0002	0.0002	0.0002	0.0070	0.0002	0.0002	0.0053	0.0047	8.966e-05	0.0002	0.0001	2.52e-05	0	0.0070	0.0001	0.0005	0.0007	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	7.228e-05	0	0.0003	0	0	0	0	0.0002	0.0019	0.0002	0.017	0.51248	D	0.538	0.09829	T	0.068	0.23728	B	0.013	0.16460	B	0.732577	0.06379	N	1.159790	0.999991	0.08975	N	2.095	0.58118	M	.	.	.	-2.24	0.50175	N	0.075	0.04913	-1.0735	0.08660	T	0.119	0.41735	T	9	0.019314408	0.00430	T	0.011908	0.29998	T	0.075	0.21907	.	.	0.316918214084	0.31302	0.19244669501094425	0.19162	0.0849632369242	0.09603	0.394409477711	0.24289	T	0.199139	0.55633	T	-0.368814	0.03654	T	-0.403389	0.32990	T	0.0465981992207998	0.04893	T	0.478252	0.14398	T	0.11438707	0.27005	0.13013655	0.31277	0.11438707	0.27005	0.13013655	0.31276	-2.709	0.07379	T	0.2681398792401821	0.36114	0.085	0.10208	B	.	.	0.986507	0.13641	10.18	0.82783631939214963	0.14373	0.71376	0.34986	D	AEFDBCI	0.147788	0.27153	N	-0.803507907425884	0.13221	0.6497512	-0.746901901413941	0.15798	0.8326715	0.989638815418167	0.31888	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.62	3.51	0.39297	2.575000	0.45689	4.846000	0.45329	0.756000	0.94297	0.802000	0.29747	1.000000	0.68203	0.019000	0.11356	0.7108:0.2892:0.0:0.0	11.257	0.48288	.	.	.	.	.	.	.	.	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	1574.98	47	chr17	79784435	.	A	G	1574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.818e+00;DP=939;ExcessHet=0.0000;FS=0.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=1.52;SOR=0.672	GT:AD:DP:GQ:PL	0/1:44,70:114:99:1589,0,1021	20	0	1	0
chr17	80090216	80090216	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	38	25	77	71	15	234	0.814126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6471	53123.61	98	chr17	80090216	.	G	C,*	53123.61	.	AC=21,1;AF=0.618,0.029;AN=34;BaseQRankSum=1.74;DP=3278;ExcessHet=5.2224;FS=0.555;InbreedingCoeff=-0.1442;MLEAC=25,1;MLEAF=0.735,0.029;MQ=55.51;MQRankSum=-5.208e+00;QD=22.16;ReadPosRankSum=-1.655e+00;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,188,0:188:99:1|1:80090216_G_C:7228,565,0,7228,565,7228:80090216	1	6	9	4
chr17	80090265	80090265	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	34612.98	75	chr17	80090265	.	G	A,*	34612.98	.	AC=18,2;AF=0.643,0.071;AN=28;BaseQRankSum=2.00;DP=2590;ExcessHet=0.6050;FS=1.909;InbreedingCoeff=0.1309;MLEAC=24,3;MLEAF=0.857,0.107;MQ=52.75;MQRankSum=-4.152e+00;QD=21.84;ReadPosRankSum=0.657;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,141,0:141:99:1|1:80090216_G_C:5440,399,0,5440,399,5440:80090216	1	7	4	7
chr17	81960711	81960711	T	C	exonic	NOTUM	.	nonsynonymous SNV	NOTUM:NM_178493:exon1:c.A199G:p.M67V,	.	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.005	B	0.001	B	0.000	U	0.992	D	0.695	N	.	.	-1.058	T	0.105	T	0.472	1.528	11.06	1.91	0.238	2.219	8.675	0.160	0.933091247677	.	.	1.589e-05	0	0	0	0	3e-05	0	0	6.5e-06	1	154602	rs748163216	3.443e-06	4.788e-06	2.738e-06	4.158e-06	1.805e-06	1.01e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.805e-06	5.002e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	0.11623	T	0.411	0.14500	T	0.005	0.12996	B	0.001	0.04355	B	0.000000	0.84330	U	0.000000	0.99172	0.41458	D	0.895	0.22405	L	.	.	.	-0.97	0.26639	N	0.407	0.44761	-1.0580	0.12260	T	0.105	0.38562	T	9	0.1644224	0.30762	T	0.933091	0.99518	D	0.160	0.41473	0.294	0.25720	0.0551355673512	0.04727	0.8203094142124181	0.81987	0.490749425408	0.47787	0.923894524574	0.98605	D	0.113597	0.52335	T	-0.0464293	0.44986	T	-0.304469	0.44251	T	0.16902007162571	0.18514	T	0.80032	0.44603	T	0.26155105	0.49214	0.16360207	0.37943	0.26155105	0.49214	0.16360207	0.37942	-4.912	0.35870	T	.	.	0.188	0.47762	B	.;.	.;.	2.719356	0.35566	19.93	0.94112352723908976	0.24282	0.64360	0.32381	D	AEFDGBHCI	0.278775	0.39297	N	-0.574415574771171	0.19725	1.034549	-0.480450683459456	0.22693	1.233829	0.99999963840632	0.74766	0.764865	0.99124	0	0.563428	0.19063	0	0.731555	0.93304	0	0.63947	0.58350	0	.	.	3.06	1.91	0.24841	4.138000	0.57780	3.823000	0.39960	0.564000	0.28548	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:0.1937:0.8063	8.675	0.33338	.	.	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	685.98	34	chr17	81960711	.	T	C	685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.790e-01;DP=801;ExcessHet=0.0000;FS=0.864;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.91;ReadPosRankSum=-1.130e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/1:44,33:77:99:700,0,1076	20	0	1	0
chr17	82101721	82101721	C	A	exonic	CCDC57	.	nonsynonymous SNV	CCDC57:NM_001367828:exon17:c.G1569T:p.Q523H	.	.	419	1098	5	0	0	5	0.00227169	.	.	2672891	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.987	D	0.865	P	.	.	1.000	N	0.805	L	2.57	T	-1.061	T	0.040	T	0.107	0.046	4.253	2.27	0.482	0.023	4.468	0.083	0.00652324118173	.	.	0.0001	0	0	0	0.0003	9.071e-05	0	0.0003	9.06e-05	14	154602	rs778373349	9.414e-05	9.645e-05	8.342e-05	0.0001	0.0028	8.129e-05	7.618e-05	0.0017	0.0014	3.026e-05	2.308e-05	0	0	0.0004	0.0028	5.587e-05	0.0002	0.0003	7.883e-05	7.879e-05	7.705e-05	8.07e-05	0.0001	4.496e-05	3.511e-05	5.842e-05	4.24e-05	0	0	6.543e-05	0	0	9.409e-05	0	0.0001	0.0010	0	0.097	0.30943	T	0.03	0.54159	D	0.987	0.61912	D	0.865	0.61524	P	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.57	0.13552	T	-1.59	0.38345	N	0.164	0.17278	-1.0606	0.11607	T	0.040	0.17362	T	9	0.09540343	0.17038	T	0.006523	0.17186	T	0.083	0.24192	0.142	0.04556	0.403328974453	0.39946	.	.	.	.	0.241057351232	0.02886	T	0.00855	0.07843	T	-0.523547	0.00419	T	-0.697666	0.05954	T	0.0400891751050949	0.03707	T	0.475952	0.14261	T	0.05568912	0.10857	0.04566919	0.06197	0.05568912	0.10856	0.04566919	0.06196	.	.	.	.	.	0.225	0.45665	B	.;.	.;.	0.885690	0.12589	9.117	0.95639040115299123	0.27433	0.10010	0.15632	N	AEFBCI	0.061198	0.11683	N	-0.565795717266954	0.19991	1.050571	-0.757400576351884	0.15540	0.8178113	0.999993391931782	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.584781	0.30282	0	0.592323	0.36904	0	.	.	3.26	2.27	0.27501	0.110000	0.15273	0.185000	0.15676	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2161:0.6571:0.0:0.1268	4.468	0.11119	.	.	.;.	.	.	.	.	.	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	3129.11	36	chr17	82101721	.	C	A	3129.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.170e-01;DP=1070;ExcessHet=0.1072;FS=3.655;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=1.91;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,54:107:99:1|0:82101720_T_C:1304,0,2062:82101720	19	0	2	0
chr18	2890717	2890717	C	T	exonic	EMILIN2	.	nonsynonymous SNV	EMILIN2:NM_032048:exon4:c.C590T:p.T197M,	.	.	422	1094	5	1	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.602	P	0.062	B	0.004	N	0.885	N	0.965	L	1.17	T	-1.073	T	0.052	T	0.139	1.437	10.74	4.29	0.918	3.424	11.727	0.038	0.00782729326326	7.7e-05	0.000998403	0.0003	0	0	0.0027	0	0.0001	0	0.0004	0.0003169	49	154602	rs79649705	0.0002	0.0002	0.0002	0.0002	0.0018	0.0001	0.0001	0.0015	0.0014	8.961e-05	0.0001	0	0.0018	1.873e-05	0.0009	5.845e-05	0.0002	0.0007	0.0002	0.0002	0.0002	0.0003	0.0035	0.0001	0.0001	0.0022	0.0019	7.22e-05	0	0.0001	0	0.0035	0	0	7.351e-05	0	0.0006	0.486	0.08091	T	0.417	0.14241	T	0.602	0.39365	P	0.062	0.26930	B	0.003908	0.34342	N	0.248741	0.885336	0.27978	N	1.965	0.53209	M	1.17	0.37910	T	-2.01	0.46337	N	0.113	0.10056	-1.0727	0.08830	T	0.052	0.22153	T	10	0.0076883733	0.00175	T	0.007827	0.20773	T	0.038	0.09825	.	.	0.32471235697	0.32085	0.3012411447772815	0.30037	0.116530142228	0.13144	0.324366152287	0.14083	T	0.043031	0.26373	T	-0.52403	0.00417	T	-0.526983	0.19589	T	0.0470332674119826	0.04971	T	0.721828	0.33531	T	0.030695494	0.02777	0.058587305	0.10850	0.030695494	0.02777	0.058587305	0.10849	-6.148	0.47501	T	.	.	0.093	0.13923	B	.	.	2.783044	0.36562	20.3	0.8773807508992153	0.17445	0.89678	0.50297	D	AEFBI	0.219231	0.34414	N	-0.0854595607170639	0.38030	2.221207	0.0354339367350072	0.41373	2.484534	0.999972299118827	0.50053	0.653281	0.48532	0	0.547309	0.14657	0	0.675528	0.61593	0	0.530356	0.10902	0	.	.	5.41	4.29	0.50359	4.534000	0.60334	4.024000	0.41277	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.8933:0.0:0.1067	11.727	0.50981	895	0.25842	.	.	.	.	.	.	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	1680.98	38	chr18	2890717	.	C	T	1680.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=854;ExcessHet=0.0000;FS=3.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=-1.485e+00;SOR=0.992	GT:AD:DP:GQ:PL	0/1:98,68:166:99:1695,0,2444	20	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	89848.01	520	chr18	9887397	.	C	T,*	89848.01	.	AC=14,15;AF=0.333,0.357;AN=42;BaseQRankSum=1.52;DP=12043;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=14,15;MLEAF=0.333,0.357;MQ=59.66;MQRankSum=-1.550e-01;QD=11.05;ReadPosRankSum=-6.600e-02;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:265,0,228:493:99:.:.:8732,10058,23330,0,10744,10106	3	2	4	0
chr18	9887405	9887414	CCAAGGAGGG	0	exonic	TXNDC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	1542.09	520	chr18	9887405	.	CCAAGGAGGG	*,C	1542.09	.	AC=10,1;AF=0.333,0.033;AN=30;BaseQRankSum=2.72;DP=11648;ExcessHet=0.0338;FS=0.521;InbreedingCoeff=0.1429;MLEAC=12,1;MLEAF=0.400,0.033;MQ=59.72;MQRankSum=0.286;QD=0.42;ReadPosRankSum=0.423;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:265,228,0:493:99:.:.:8732,0,10106,10058,10744,23330	7	3	4	6
chr18	9887406	9887414	CAAGGAGGG	-	exonic	TXNDC2	.	nonframeshift deletion	TXNDC2:NM_001098529:exon2:c.927_935del:p.K310_G312del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.676e-05	1.869e-05	1.541e-05	1.814e-05	5.184e-05	1.006e-05	7.98e-06	7.41e-06	5.4e-06	5.184e-05	0	0	3.629e-05	7.729e-05	0	1.466e-05	0	1.809e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	1542.09	520	chr18	9887405	.	CCAAGGAGGG	*,C	1542.09	.	AC=10,1;AF=0.333,0.033;AN=30;BaseQRankSum=2.72;DP=11648;ExcessHet=0.0338;FS=0.521;InbreedingCoeff=0.1429;MLEAC=12,1;MLEAF=0.400,0.033;MQ=59.72;MQRankSum=0.286;QD=0.42;ReadPosRankSum=0.423;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:265,228,0:493:99:.:.:8732,0,10106,10058,10744,23330	7	3	4	6
chr18	9887415	9887434	TGACATCCCCAAGTCCCCAG	0	exonic	TXNDC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:265,228,0:493:99:.:.:8732,0,10106,10058,10744,23330	7	3	8	2
chr18	9887416	9887434	GACATCCCCAAGTCCCCAG	-	exonic	TXNDC2	.	frameshift deletion	TXNDC2:NM_001098529:exon2:c.937_955del:p.D313Kfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.788e-06	8.288e-06	8.77e-06	6.777e-06	5.157e-05	3.24e-06	2.08e-06	2.14e-06	1.55e-06	5.157e-05	0	0	3.633e-05	0	0	7.303e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:265,228,0:493:99:.:.:8732,0,10106,10058,10744,23330	7	3	8	2
chr18	9887585	9887585	C	A	exonic	TXNDC2	.	nonsynonymous SNV	TXNDC2:NM_001098529:exon2:c.C1106A:p.P369H	.	.	435	1040	44	3	0	50	0.0234742	.	.	2818210	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.678	P	0.493	P	.	.	0.999	N	1.545	L	2.31	T	-1.083	T	0.038	T	0.245	2.489	14.28	3.07	1.253	0.465	9.931	0.038	0.00513223232431	0.0039	0.00319489	0.0044	0.0017	0.0042	0.0001	0.0002	0.0058	0.0033	0.0041	0.0042302	654	154602	rs141130127	0.0058	0.0058	0.0057	0.0060	0.0265	0.0057	0.0057	0.0230	0.0217	0.0022	0.0055	0.0197	2.672e-05	0.0005	0.0265	0.0061	0.0064	0.0043	0.0042	0.0042	0.0043	0.0041	0.0073	0.0039	0.0038	0.0062	0.0058	0.0015	0	0.0073	0.0216	0	0.0002	0.0136	0.0051	0.0081	0.0031	0.116	0.33923	T	0.001	0.83351	D	0.678	0.41346	P	0.493	0.47443	P	.	.	.	.	1	0.21650	N	2.495	0.72670	M	2.31	0.16794	T	-2.73	0.58085	D	0.173	0.19325	-1.0829	0.06795	T	0.038	0.16290	T	8	0.0044638515	0.00092	T	0.005132	0.13032	T	0.038	0.09825	.	.	0.411265580357	0.40742	0.04906126576242933	0.04849	0.352096120265	0.37045	0.203425049782	0.00563	T	0.111964	0.42786	T	-0.578933	0.00196	T	-0.600228	0.12792	T	0.0595624611979606	0.07099	T	0.550145	0.20478	T	0.06818249	0.14832	0.0785049	0.17588	0.06818249	0.14832	0.0785049	0.17588	-8.706	0.65830	D	.	.	0.150	0.33273	B	.;.;.	.;.;.	1.264036	0.16619	12.66	0.98898081538977922	0.48127	0.16144	0.19251	N	AEFBI	0.048095	0.08171	N	-0.424347102371954	0.24619	1.330544	-0.569536476959241	0.20289	1.09245	0.999978513951005	0.50053	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.94	3.07	0.34476	0.512000	0.22461	-2.538000	0.03633	-0.819000	0.02980	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8969:0.0:0.1031	9.931	0.40690	885	0.28214	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	14253.11	176	chr18	9887585	.	C	A	14253.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.095;DP=4256;ExcessHet=0.1072;FS=1.105;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.92;MQRankSum=1.88;QD=10.74;ReadPosRankSum=2.37;SOR=0.599	GT:AD:DP:GQ:PL	0/1:352,308:660:99:7445,0,7267	19	0	2	0
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.794	P	0.216	B	0.002	N	1.000	D	2.125	M	3.61	T	-1.134	T	0.021	T	0.559	3.885	19.75	5.86	2.771	3.660	14.969	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	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	0.225	1024.34	23	chr18	12814235	.	C	T	1024.34	.	AC=9;AF=0.225;AN=40;BaseQRankSum=-1.786e+00;DP=832;ExcessHet=4.7172;FS=190.289;InbreedingCoeff=-0.2940;MLEAC=9;MLEAF=0.225;MQ=59.98;MQRankSum=0.00;QD=2.05;ReadPosRankSum=0.165;SOR=10.577	GT:AD:DP:GQ:PL	0/1:42,20:62:44:44,0,643	11	0	9	1
chr18	14106283	14106283	T	G	exonic	ZNF519	.	nonsynonymous SNV	ZNF519:NM_145287:exon3:c.A257C:p.E86A,	.	.	489	1023	10	0	0	10	0.00486381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.064	B	0.009	B	.	.	1.000	N	0.77	N	.	.	-1.028	T	0.064	T	0.097	0.722	7.843	0.646	0.552	-0.748	5.628	0.007	0.00154493361717	0.0003	0.000599042	0.0004	0	0.0007	0	0	0.0002	0.0033	0.0013	0.0003752	58	154602	rs143444225	0.0002	0.0002	0.0002	0.0002	0.0033	0.0002	0.0002	0.0022	0.0018	2.989e-05	0.0006	0	0	0	0.0033	8.634e-05	0.0004	0.0015	0.0003	0.0003	0.0003	0.0003	0.0017	0.0002	0.0002	0.0009	0.0007	2.416e-05	0	0.0013	0	0	0	0.0034	0.0001	0.0009	0.0017	.	.	.	0.08	0.41913	T	0.064	0.23455	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	1.28	0.32218	L	3.45	0.05311	T	.	.	.	0.052	0.02366	-1.0280	0.21103	T	0.064	0.26527	T	8	0.008809119	0.00200	T	0.001545	0.02420	T	.	.	.	.	0.156986980423	0.15292	0.01992207357186179	0.01945	0.0118109347836	0.01115	0.382825911045	0.22657	T	0.026126	0.19398	T	-0.636474	0.00087	T	-0.732579	0.04212	T	0.00225764680909057	0.00023	T	0.153585	0.01326	T	0.079272166	0.18101	0.06400707	0.12764	0.079272166	0.18101	0.06400707	0.12764	-7.539	0.57884	D	.	.	0.182	0.39511	B	.	.	0.257364	0.06360	2.825	0.90157853371931396	0.19436	0.01873	0.05770	N	AEFBCI	0.036960	0.05009	N	-1.07509044630143	0.07105	0.3290649	-1.1679865440364	0.06451	0.3105643	0.0818695494423543	0.15885	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	0.646	0.646	0.16961	0.282000	0.18587	.	.	-0.701000	0.04053	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:1.0E-4:0.0:0.9999	5.628	0.16773	958	0.09170	.	.	.	.	.	.	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	639.98	38	chr18	14106283	.	T	G	639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.681;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-4.280e-01;SOR=0.589	GT:AD:DP:GQ:PL	0/1:37,24:61:99:654,0,1028	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	0/1:220,47:267:99:848,0,5720	9	0	12	0
chr18	14763932	14763932	A	G	exonic	ANKRD30B	.	nonsynonymous SNV	ANKRD30B:NM_001367607:exon7:c.A1067G:p.E356G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.005	B	0.004	B	.	.	1.000	N	-0.205	N	1.52	T	-0.999	T	0.026	T	0.081	-1.960	0.007	-0.47	-0.738	-1.276	.	0.001	0.0122353406664	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1189736829	1.372e-06	2.052e-06	1.364e-06	1.379e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.07330	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.52	0.30669	T	0.01	0.06868	N	0.036	0.01068	-0.9986	0.30311	T	0.026	0.11353	T	8	0.043631345	0.03233	T	0.012235	0.30616	T	0.001	0.00016	0.206	0.12216	0.0611884634855	0.05136	0.041265565778957326	0.04071	0.0311442194996	0.03231	0.493805766106	0.37967	T	0.002051	0.01461	T	-0.375597	0.03320	T	-0.777296	0.02536	T	0.0308144814612847	0.02116	T	0.264174	0.04286	T	0.027503526	0.01952	0.08654061	0.20057	0.027503526	0.01952	0.08654061	0.20057	-5.341	0.40347	T	.	.	0.141	0.30997	B	.	.	-0.280009	0.02706	0.354	0.33804021952212465	0.02033	0.00079	0.00540	N	AEFI	0.022788	0.01185	N	-1.64942167895752	0.01037	0.04500166	-1.72688737511905	0.01023	0.04590113	5.15593110392241E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.235	-0.47	0.11525	-1.283000	0.02904	.	.	-2.489000	0.00267	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	4248.11	37	chr18	14763932	.	A	G	4248.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.920e-01;DP=1008;ExcessHet=0.1072;FS=1.971;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.91;ReadPosRankSum=0.654;SOR=0.582	GT:AD:DP:GQ:PL	0/1:86,83:169:99:2303,0,2366	19	0	2	0
chr18	21500125	21500125	C	G	exonic	GREB1L	.	nonsynonymous SNV	GREB1L:NM_001142966:exon22:c.C3788G:p.A1263G,	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.3	B	0.13	B	0.033	N	1.000	D	0.895	L	3.15	T	-0.966	T	0.020	T	0.18	2.525	14.40	4.44	2.289	4.044	17.256	0.041	0.0078443216968	.	.	0.0005	0.0005	0	0	0	0.0008	0	0.0003	9.7e-05	15	154602	rs764201914	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	0	0.0002	0.0002	0	6.101e-05	0.0004	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0004	0.0005	0.0002	0.0002	0.0004	0.0004	7.213e-05	0	0.0003	0	0	0	0.0068	0.0005	0.0005	0.0004	0.523	0.07545	T	0.531	0.10069	T	0.062	0.23277	B	0.092	0.30031	B	0.032988	0.24955	N	0.374250	0.959	0.81001	D	1.545	0.39105	L	3.14	0.07920	T	-1.88	0.43906	N	0.174	0.19055	-0.9662	0.37974	T	0.020	0.08453	T	10	0.0824098	0.13598	T	0.007844	0.20798	T	0.041	0.10877	.	.	0.0954503805726	0.09146	0.25835570598543967	0.25749	.	.	0.450372576714	0.31994	T	0.006587	0.06018	T	-0.47675	0.00773	T	-0.590531	0.13619	T	0.0265065958382938	0.01474	T	0.79742	0.44372	T	0.18786559	0.40260	0.18223412	0.41137	0.18786559	0.40260	0.18223412	0.41137	-6.486	0.51122	T	0.13793337855143573	0.15220	0.105	0.23041	B	.;.;.	.;.;.	3.113343	0.42004	21.5	0.98901032146306944	0.48181	0.95234	0.63935	D	AEFDBI	0.559519	0.56830	D	-0.10653041132007	0.37108	2.154221	0.0541764647067865	0.42275	2.554106	0.99999999999995	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.44	4.44	0.53164	2.545000	0.45429	7.360000	0.58341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	17.256	0.86942	402	0.82617	.;.;.	.	.	.	.	.	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	1547.98	52	chr18	21500125	.	C	G	1547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.680;DP=934;ExcessHet=0.0000;FS=0.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-2.240e-01;SOR=0.585	GT:AD:DP:GQ:PL	0/1:66,60:128:99:1562,0,1593	20	0	1	0
chr18	21573514	21573514	G	A	exonic	ESCO1	.	nonsynonymous SNV	ESCO1:NM_052911:exon4:c.C1330T:p.H444Y,	.	.	437	1068	16	1	0	18	0.00835655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.001	B	0.002	B	0.018	N	1.000	N	0.4	N	1.85	T	-1.058	T	0.064	T	0.234	-0.663	1.095	2.64	0.815	0.636	7.288	0.031	.	0.0013	0.00359425	0.0044	0.0003	0.0015	0	0.0009	0.0034	0.0033	0.0164	0.0039003	603	154602	rs146713905	0.0025	0.0025	0.0020	0.0030	0.0155	0.0024	0.0024	0.0148	0.0145	0.0003	0.0011	0.0070	0	0.0008	0.0057	0.0017	0.0027	0.0155	0.0016	0.0016	0.0015	0.0017	0.0125	0.0014	0.0014	0.0100	0.0090	0.0003	0	0.0018	0.0063	0	0.0002	0.0034	0.0017	0.0019	0.0125	0.114	0.28646	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.018265	0.27521	N	0.318671	1	0.08975	N	1.43	0.35840	L	0.28	0.59037	T	-1.28	0.32185	N	0.136	0.13341	-1.0582	0.12209	T	0.064	0.26385	T	10	0.0045928657	0.00096	T	.	.	.	0.031	0.07369	.	.	0.31506500091	0.31122	0.1572316535599928	0.15644	0.0083966144787	0.00763	0.282772749662	0.07882	T	0.029098	0.20925	T	-0.474557	0.00796	T	-0.441471	0.28644	T	0.00511513531306711	0.00055	T	0.555444	0.19245	T	0.025368847	0.01468	0.04517232	0.06021	0.025368847	0.01468	0.04517232	0.06020	-4.255	0.27541	T	.	.	0.073	0.04477	B	.	.	0.243426	0.06232	2.687	0.91231191674201328	0.20488	0.05980	0.11941	N	AEFDBI	0.041615	0.06349	N	-0.830299534586985	0.12541	0.6119013	-0.747720079566386	0.15778	0.8315228	0.0928019650306416	0.16167	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.8	2.64	0.30504	0.666000	0.24779	2.123000	0.30732	0.676000	0.76740	0.060000	0.21767	0.982000	0.30508	0.096000	0.18090	0.3762:0.0:0.6238:0.0	7.288	0.25522	613	0.66686	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3717.11	33	chr18	21573514	.	G	A	3717.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.80;DP=937;ExcessHet=0.1072;FS=1.538;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.75;ReadPosRankSum=0.599;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,56:122:99:0|1:21573514_G_A:2111,0,2539:21573514	19	0	2	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T,	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.85	M	-0.92	T	0.372	D	0.658	D	0.592	5.198	33	5.86	2.937	6.565	20.563	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4762	4225.93	56	chr18	31541297	.	G	A	4225.93	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-4.940e-01;DP=1248;ExcessHet=43.6797;FS=377.368;InbreedingCoeff=-0.9302;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.76;ReadPosRankSum=0.537;SOR=12.605	GT:AD:DP:GQ:PL	0/1:23,22:48:99:250,0,325	1	0	20	0
chr18	37067197	37067197	G	A	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.G560A:p.C187Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.004	B	0.066	N	1.000	N	0.485	N	1.0	T	-1.034	T	0.038	T	0.11	-2.968	0.001	1.01	0.473	0.289	0.508	0.114	0.00495282325438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.02004	T	1.0	0.03324	T	0.001	0.12183	B	0.002	0.10090	B	0.066107	0.21833	N	0.492799	1	0.08975	N	0.995	0.25082	L	1.0	0.41392	T	-2.1	0.47852	N	0.081	0.14054	-1.0339	0.19205	T	0.038	0.16376	T	10	0.04781583	0.04150	T	0.004953	0.12473	T	0.114	0.32008	0.24	0.17218	0.0884992946249	0.08302	0.12486170782916084	0.12412	0.0693334402013	0.07761	0.349928975105	0.17912	T	0.024333	0.18409	T	-0.281787	0.10479	T	-0.642544	0.09485	T	0.114724479615688	0.13906	T	0.662434	0.28129	T	0.03804784	0.04996	0.067671165	0.14031	0.03804784	0.04996	0.067671165	0.14031	-3.62	0.18147	T	.	.	0.075	0.13174	B	.;.;.;.;.	.;.;.;.;.	0.712451	0.10815	7.495	0.20846672331132926	0.00768	0.17205	0.19735	N	AEFGI	0.089171	0.18075	N	-0.990119155275313	0.08813	0.4147193	-0.924159477584458	0.11525	0.5876435	4.19662457214258E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	1.01	0.19044	0.347000	0.19760	1.733000	0.28342	0.676000	0.76740	0.648000	0.28154	0.820000	0.27118	0.027000	0.12703	0.2504:0.2192:0.3296:0.2008	0.508	0.00551	738	0.53389	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	425.43	46	chr18	37067197	.	G	A	425.43	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-7.394e+00;DP=2559;ExcessHet=1.1607;FS=156.282;InbreedingCoeff=-0.1350;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.32;ReadPosRankSum=1.76;SOR=9.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:234,49:291:59:.:.:59,0,5485	16	0	5	0
chr18	47098222	47098222	-	A	exonic	KATNAL2	.	frameshift insertion	KATNAL2:NM_001353908:exon12:c.829dupA:p.S281Kfs*11	.	.	734	696	20	0	72	92	0.0141643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1098.03	44	chr18	47098221	.	CA	C,CAA,CAAA	1098.03	.	AC=2,3,1;AF=0.048,0.071,0.024;AN=42;BaseQRankSum=0.200;DP=1001;ExcessHet=1.7912;FS=3.187;InbreedingCoeff=-0.1691;MLEAC=2,2,1;MLEAF=0.048,0.048,0.024;MQ=59.97;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-1.150e-01;SOR=0.986	GT:AD:DP:GQ:PL	0/1:41,9,3,0:53:65:65,0,956,142,877,1146,210,970,1130,1202	15	0	2	0
chr18	47098222	47098222	-	AA	exonic	KATNAL2	.	frameshift insertion	KATNAL2:NM_001353908:exon12:c.829_830insAA:p.S281Kfs*4	.	.	1	172	24	0	29	53	0.0652174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1098.03	44	chr18	47098221	.	CA	C,CAA,CAAA	1098.03	.	AC=2,3,1;AF=0.048,0.071,0.024;AN=42;BaseQRankSum=0.200;DP=1001;ExcessHet=1.7912;FS=3.187;InbreedingCoeff=-0.1691;MLEAC=2,2,1;MLEAF=0.048,0.048,0.024;MQ=59.97;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-1.150e-01;SOR=0.986	GT:AD:DP:GQ:PL	0/1:41,9,3,0:53:65:65,0,956,142,877,1146,210,970,1130,1202	15	0	2	0
chr18	62716650	62716650	T	C	exonic	PHLPP1	.	nonsynonymous SNV	PHLPP1:NM_194449:exon1:c.T967C:p.S323P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	.	.	.	.	.	.	1.000	D	0.695	N	1.68	T	-1.073	T	0.043	T	0.181	1.113	9.539	1.2	0.079	0.132	5.173	0.014	0.209079773241	.	.	0.0009	0	0	0	0	0.0043	0	0	0.0001552	24	154602	rs747843451	0.0031	0.0028	0.0032	0.0029	0.0037	0.0030	0.0030	0.0036	0.0035	0.0003	0.0004	0	0	0.0012	0.0002	0.0037	0.0023	0.0003	0.0020	0.0020	0.0022	0.0019	0.0039	0.0018	0.0018	0.0035	0.0034	0.0006	0	0.0003	0	0	0.0009	0	0.0039	0.0005	0.0002	0.24	0.17701	T	0.165	0.30926	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	0	0.06538	N	1.68	0.27184	T	-0.45	0.14782	N	0.327	0.36779	-1.0732	0.08724	T	0.043	0.18410	T	7	0.0064120293	0.00145	T	0.20908	0.87180	D	0.014	0.01968	.	.	0.165150595986	0.16160	0.07396429495760078	0.07333	1.9161241583	0.92946	0.748632013798	0.74245	T	0.063633	0.32225	T	-0.555101	0.00272	T	-0.570979	0.15359	T	0.0214655142877601	0.00850	T	0.40416	0.10358	T	0.08981826	0.20998	0.11667715	0.28166	0.08981826	0.20998	0.11667715	0.28165	-4.348	0.28844	T	.	.	0.093	0.13969	B	.	.	1.231876	0.16270	12.43	0.96568708381646373	0.30286	0.04321	0.09877	N	AEFDBHCI	0.066518	0.13029	N	-0.569832392208126	0.19865	1.043066	-0.664964629199136	0.17839	0.9503554	0.999952475108944	0.48110	0.455138	0.09556	0	0.435331	0.06439	0	0.391439	0.06340	0	0.56751	0.32155	0	.	.	2.49	1.2	0.20181	0.694000	0.25190	0.598000	0.19894	0.555000	0.28237	0.020000	0.19661	0.283000	0.24120	0.122000	0.19250	0.0:0.0:0.3057:0.6943	5.173	0.14449	941	0.13089	.	.	.	.	.	.	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	1080.98	35	chr18	62716650	.	T	C	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.100e-01;DP=822;ExcessHet=0.0000;FS=0.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=0.357;SOR=0.825	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1095,0,1076	20	0	1	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|1:57,29:86:99:0|1:65824683_C_G:278,0,1127:65824683	0	0	20	1
chr18	76379505	76379505	T	C	exonic	ZNF516	.	nonsynonymous SNV	ZNF516:NM_014643:exon4:c.A2609G:p.H870R,	.	.	429	1083	10	0	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.501	P	0.116	B	0.307	N	1.000	N	.	.	2.88	T	-0.991	T	0.017	T	0.063	0.332	5.799	-6.71	-1.202	0.209	5.277	0.110	.	0.0002	0.00159744	0.0018	0	8.66e-05	0.0001	0.0002	0.0005	0.0045	0.0104	0.0014424	223	154602	rs199852420	0.0008	0.0008	0.0004	0.0011	0.0099	0.0007	0.0007	0.0094	0.0092	2.987e-05	8.944e-05	0.0019	0	0.0001	0.0028	0.0001	0.0010	0.0099	0.0005	0.0005	0.0003	0.0006	0.0087	0.0004	0.0003	0.0066	0.0059	4.81e-05	0	0.0001	0.0014	0.0002	0	0.0034	0.0002	0	0.0087	0.021	0.49117	D	0.066	0.44501	T	0.501	0.37169	P	0.116	0.31939	B	0.307171	0.03991	N	1.443980	0.999997	0.08975	N	.	.	.	2.88	0.10291	T	-3.67	0.70191	D	0.385	0.42639	-0.9908	0.32398	T	0.017	0.07045	T	9	0.0035223067	0.00063	T	.	.	.	0.110	0.31079	.	.	0.0666544352282	0.05500	0.35572139522722934	0.35486	0.0990334627695	0.11188	0.425795257092	0.28634	T	0.125729	0.45164	T	-0.667256	0.00057	T	-0.723425	0.04632	T	0.206838041543961	0.20787	T	0.547645	0.18800	T	0.07784912	0.17692	0.14265777	0.33931	0.07784912	0.17692	0.14265777	0.33930	-3.134	0.11691	T	.	.	0.099	0.16800	B	.	.	0.435718	0.08059	4.783	0.73566005858616723	0.10374	0.09579	0.15303	N	AEFBI	0.074286	0.14884	N	-0.841529417706358	0.12259	0.5964635	-1.00565262260002	0.09661	0.4819225	0.998043086296213	0.36353	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.16	-6.71	0.01597	0.085000	0.14759	-0.964000	0.06769	0.661000	0.55757	0.004000	0.16614	0.000000	0.08366	0.718000	0.34707	0.1157:0.0738:0.5109:0.2996	5.277	0.14967	991	0.01385	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1678.98	33	chr18	76379505	.	T	C	1678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.248e+00;DP=878;ExcessHet=0.0000;FS=1.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.12;ReadPosRankSum=-4.730e-01;SOR=0.845	GT:AD:DP:GQ:PL	0/1:109,75:184:99:1693,0,2911	20	0	1	0
chr18	77105249	77105249	C	T	exonic	MBP	.	nonsynonymous SNV	MBP:NM_001025100:exon2:c.G13A:p.A5T	.	.	433	1082	7	0	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.203	B	0.016	B	0.458	N	0.629	N	0	N	.	.	-1.036	T	0.042	T	0.187	0.635	7.415	1.35	0.354	0.430	3.728	0.035	0.0015196127001	.	0.000199681	0.0008	9.614e-05	0	0	0	0.0009	0	0.0024	0.0007438	115	154602	rs149191307	0.0006	0.0006	0.0005	0.0006	0.0019	0.0005	0.0005	0.0017	0.0016	8.971e-05	8.956e-05	0	0	5.638e-05	0.0003	0.0005	0.0004	0.0019	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	7.221e-05	0	0.0001	0	0.0002	0	0	0.0003	0	0.0012	0.171	0.22746	T	0.179	0.29540	T	0.203	0.29776	B	0.012	0.17743	B	0.458282	0.04854	N	1.499710	1	0.08975	N	0.345	0.11182	N	.	.	.	-0.35	0.12847	N	0.306	0.34767	-1.0356	0.18668	T	0.042	0.17994	T	9	0.0050321817	0.00108	T	0.00152	0.02369	T	0.035	0.08770	.	.	0.204265027416	0.20035	0.1272157560023877	0.12647	0.186899771732	0.21002	.	.	.	0.032275	0.22413	T	-0.505157	0.00535	T	-0.505663	0.21761	T	0.00719752620464792	0.00082	T	0.844016	0.53499	T	0.0884449	0.20631	0.050981503	0.08114	0.0884449	0.20630	0.050981503	0.08113	-3.87	0.22453	T	.	.	0.074	0.06433	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.861995	0.12343	8.883	0.56215778387440862	0.05505	0.04198	0.09705	N	AEFDGBIJ	0.045753	0.07517	N	-0.984961672231293	0.08925	0.4203373	-1.00932970394406	0.09579	0.4773883	0.999989285242115	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.550183	0.17644	0	.	.	3.26	1.35	0.21078	0.290000	0.18731	-1.970000	0.04414	0.599000	0.40250	0.026000	0.20160	0.000000	0.08366	0.089000	0.17737	0.253:0.6132:0.0:0.1338	3.728	0.08009	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	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	2176.11	33	chr18	77105249	.	C	T	2176.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.299;DP=889;ExcessHet=0.1072;FS=0.473;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.99;ReadPosRankSum=-4.150e-01;SOR=0.648	GT:AD:DP:GQ:PL	0/1:79,57:136:99:1221,0,1819	19	0	2	0
chr18	80136200	80136200	C	G	exonic	ADNP2	.	nonsynonymous SNV	ADNP2:NM_014913:exon4:c.C787G:p.Q263E,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.943	P	0.496	P	0.002	N	0.611	N	0.975	L	.	.	-0.955	T	0.101	T	0.384	3.699	18.79	5.65	2.941	3.740	14.091	0.074	0.00275964958219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.03	0.54159	D	0.943	0.53072	P	0.496	0.47529	P	0.001976	0.37549	N	0.184247	0.611177	0.30859	N	2.595	0.75868	M	.	.	.	-1.44	0.35399	N	0.408	0.44857	-0.9550	0.40096	T	0.101	0.37493	T	8	0.33367395	0.50554	T	0.00276	0.05723	T	0.074	0.21613	0.384	0.40298	0.619093476189	0.61600	0.29770993480709657	0.29683	0.424136248686	0.42847	0.534070491791	0.43608	T	0.109008	0.42251	T	0.00998409	0.53021	T	-0.223435	0.52404	T	0.739263892173767	0.42698	D	0.854615	0.54143	D	0.20092201	0.42085	0.18550962	0.41667	0.20092201	0.42085	0.18550962	0.41666	-2.525	0.05954	T	.	.	0.154	0.34071	B	.	.	3.651291	0.51821	23.2	0.99439371358843642	0.64670	0.95209	0.63842	D	AEFGBCI	0.552209	0.56397	D	0.392131728686509	0.60996	4.294887	0.464526662489449	0.65654	4.851309	0.999997744303827	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	3.356000	0.51987	7.607000	0.61769	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.0:0.929:0.0:0.071	14.091	0.64516	.	.	.	.	.	.	.	.	Uncertain significance	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	3005.98	103	chr18	80136200	.	C	G	3005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.178e+00;DP=1508;ExcessHet=0.0000;FS=4.747;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.05;ReadPosRankSum=1.05;SOR=0.514	GT:AD:DP:GQ:PL	0/1:94,120:214:99:3020,0,2269	20	0	1	0
chr19	501743	501743	-	CCCGACACCACCTCCCAGGAGC	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.742_743insCCCGACACCACCTCCCAGGAGC:p.P249Rfs*53,	.	.	978	231	47	127	139	440	0.394495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0007	0.0002	0.0008	0	0.0002	0	0	6.5e-06	1	154602	.	0.0056	0.0059	0.0048	0.0063	0.0110	0.0054	0.0054	0.0102	0.0099	0.0025	0.0092	0.0049	0.0104	0.0032	0.0024	0.0048	0.0059	0.0110	0.0062	0.0070	0.0061	0.0063	0.0266	0.0057	0.0055	0.0217	0.0198	0.0045	0.0050	0.0046	0.0039	0.0266	0.0078	0.0165	0.0058	0.0090	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	46021.53	35	chr19	501743	.	T	TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC,C,TCCCGACACCACCTCCCAGGAGC	46021.53	.	AC=29,4,1;AF=0.690,0.095,0.024;AN=42;BaseQRankSum=-6.390e-01;DP=1856;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=29,4,1;MLEAF=0.690,0.095,0.024;MQ=58.52;MQRankSum=-7.810e-01;QD=29.75;ReadPosRankSum=-1.790e+00;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,17,2,0:41:99:.:.:804,0,727,638,760,2300,836,860,1922,2032	1	10	5	0
chr19	2290747	2290747	G	T	exonic	LINGO3	.	nonsynonymous SNV	LINGO3:NM_001101391:exon2:c.C1030A:p.L344I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	1.0	D	.	.	1.000	D	3	M	-2.12	D	0.649	D	0.785	D	0.472	3.971	20.3	4.38	1.983	6.420	9.380	0.674	0.810432842709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	6.569e-06	6.566e-06	0	1.345e-05	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.037	0.51737	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	2.885	0.83555	M	-2.12	0.86283	D	.	.	.	0.78	0.77695	0.649	0.92532	D	0.785	0.92687	D	9	0.8723988	0.86512	D	0.810433	0.98522	D	.	.	0.647	0.78436	0.866806358766	0.86551	0.7383396726454348	0.73778	.	.	0.801933944225	0.82258	T	0.034533	0.23358	T	0.124472	0.66818	D	-0.0589811	0.66404	T	0.975328267238407	0.70885	D	0.943306	0.78595	D	0.47046146	0.65318	0.58483493	0.75926	0.47046146	0.65319	0.58483493	0.75926	-7.381	0.56771	T	.	.	0.405	0.59860	A	.	.	4.548720	0.71574	25.7	0.9958114596282277	0.73040	0.95562	0.65216	D	AEFDGBHCI	0.767856	0.70359	D	0.748382361128341	0.82800	7.852859	0.66235316049573	0.79535	7.102701	0.999999999963269	0.74766	0.59774	0.34471	0	0.484254	0.07192	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.38	4.38	0.52019	6.535000	0.73744	7.275000	0.58003	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1013:0.0:0.8987:0.0	9.380	0.37471	982	0.03397	.	.	.	.	.	.	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	1329.98	39	chr19	2290747	.	G	T	1329.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.797e+00;DP=1011;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-5.800e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:66,49:115:99:1344,0,2023	20	0	1	0
chr19	3178865	3178865	A	G	exonic	S1PR4	.	nonsynonymous SNV	S1PR4:NM_003775:exon1:c.A73G:p.I25V,	.	.	407	1113	2	0	0	2	0.000897666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.023	B	0.02	B	0.000	D	0.999	D	1.04	L	-1.56	D	-0.656	T	0.345	T	0.312	0.668	7.579	2.68	0.413	4.620	8.479	0.211	0.0460836374936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.135	0.34124	T	0.023	0.18885	B	0.02	0.19048	B	0.000016	0.62929	D	0.065142	0.999115	0.46101	D	2.115	0.58683	M	-1.56	0.81815	D	-0.56	0.17003	N	0.218	0.24385	-0.6559	0.62456	T	0.345	0.71012	T	10	0.17148253	0.31870	T	0.046084	0.62291	D	0.211	0.50185	0.405	0.43738	0.355939216326	0.35206	0.37368184002393073	0.37282	0.340037095638	0.35948	0.904923498631	0.96967	D	0.131921	0.46169	T	0.0348673	0.56368	T	-0.187692	0.55806	T	0.211681619286537	0.21041	T	0.467453	0.13767	T	0.05402682	0.10310	0.12429665	0.29961	0.05402682	0.10310	0.12429665	0.29960	-2.344	0.04801	T	.	.	0.262	0.49693	B	.	.	1.257583	0.16549	12.61	0.72781099598500698	0.10093	0.87332	0.46839	D	ALL	0.638533	0.61692	D	-0.720660396569031	0.15441	0.7782297	-0.669080783692762	0.17735	0.9443722	0.999999999746418	0.74766	0.422189	0.06491	0	0.52208	0.09955	0	0.578056	0.29568	0	0.691587	0.68394	0	.	.	3.73	2.68	0.30839	4.657000	0.61185	1.266000	0.25261	-0.251000	0.07141	1.000000	0.71638	0.300000	0.24215	0.127000	0.19450	0.8023:0.1977:0.0:0.0	8.479	0.32193	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	440.98	42	chr19	3178865	.	A	G	440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.132e+00;DP=686;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=-1.163e+00;SOR=0.580	GT:AD:DP:GQ:PL	0/1:15,19:34:99:455,0,418	20	0	1	0
chr19	4207507	4207507	G	A	exonic	ANKRD24	.	nonsynonymous SNV	ANKRD24:NM_133475:exon9:c.G544A:p.A182T,	.	.	423	1097	2	0	0	2	0.000910747	.	.	2434622	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.67	T	0.068	B	0.013	B	0.735	N	0.996	N	0.305	N	-0.09	T	-1.003	T	0.104	T	0.049	-0.249	2.801	3.82	0.896	0.387	4.820	0.067	0.0177014752908	7.9e-05	0.000199681	9.11e-05	0.0001	0	0.0001	0	5.995e-05	0.0011	0.0002	8.41e-05	13	154602	rs372390380	9.305e-05	9.44e-05	0.0001	8.115e-05	0.0003	8.027e-05	7.52e-05	7.774e-05	7.26e-05	0	2.236e-05	3.827e-05	5.038e-05	1.875e-05	0.0003	9.264e-05	0.0002	0.0001	8.54e-05	8.53e-05	0.0001	4.031e-05	0.0002	4.956e-05	3.962e-05	9.049e-05	7.013e-05	2.408e-05	0	0	0	0	0	0	0.0002	0.0005	0	0.61	0.08762	T	1.0	0.02459	T	0.031	0.23728	B	0.011	0.16460	B	0.734837	0.09824	N	0.811877	0.995994	0.23144	N	0.31	0.10265	N	-0.09	0.64086	T	-0.47	0.15178	N	0.203	0.22614	-1.0027	0.29139	T	0.104	0.38292	T	10	0.067918	0.09532	T	0.017701	0.39501	T	0.067	0.19503	.	.	0.386721274199	0.38283	0.07979517128591689	0.07914	0.275170770454	0.30004	0.351333588362	0.18118	T	0.010312	0.09320	T	-0.40872	0.02027	T	-0.60954	0.12022	T	0.0206220273664608	0.00762	T	0.709329	0.31993	T	0.036593173	0.04531	0.040650666	0.04443	0.036593173	0.04531	0.040650666	0.04442	-5.972	0.49188	T	.	.	0.064	0.03736	B	.;.;.;.	.;.;.;.	1.484059	0.19102	14.09	0.85898798756718098	0.16183	0.10132	0.15722	N	AEFDGBHCI	0.035789	0.04663	N	-0.787130450545478	0.13645	0.6736743	-0.678049767182094	0.17509	0.9313974	0.988769342371669	0.31620	0.631981	0.41245	0	0.61073	0.52368	0	0.779548	0.98927	0	0.296957	0.05502	2	.	.	4.86	3.82	0.43153	0.983000	0.29150	2.818000	0.34946	-0.158000	0.11653	0.007000	0.17678	0.850000	0.27382	0.110000	0.18741	0.2182:0.0:0.7818:0.0	4.820	0.12751	917	0.20147	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;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	0	0	0	0	0.02381	2832.98	49	chr19	4207507	.	G	A	2832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.820e-01;DP=1160;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=1.81;SOR=0.723	GT:AD:DP:GQ:PL	0/1:130,121:251:99:2847,0,3076	20	0	1	0
chr19	4511635	4511635	C	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	177671.52	322	chr19	4511635	.	C	G,*	177671.52	.	AC=25,1;AF=0.833,0.033;AN=30;BaseQRankSum=-7.580e-01;DP=10056;ExcessHet=0.2174;FS=0.730;InbreedingCoeff=0.2169;MLEAC=32,1;MLEAF=1.00,0.033;MQ=57.70;MQRankSum=-7.188e+00;QD=24.86;ReadPosRankSum=1.56;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:270,430,0:700:99:.:.:11536,0,7000,12347,8290,20636	0	10	4	6
chr19	4511713	4511713	T	0	exonic	PLIN4	.	.	.	.	.	34	3	109	74	6	263	0.977186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8462	139194.31	100	chr19	4511713	.	T	C,*	139194.31	.	AC=22,1;AF=0.846,0.038;AN=26;BaseQRankSum=1.87;DP=8565;ExcessHet=0.0976;FS=2.619;InbreedingCoeff=0.3015;MLEAC=31,1;MLEAF=1.00,0.038;MQ=56.56;MQRankSum=-1.881e+00;QD=32.62;ReadPosRankSum=-5.445e+00;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:269,292,0:561:99:0|1:4511713_T_C:11263,0,10240,12072,11119,23191:4511713	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|2:267,0,314:581:99:0|1:4511713_T_C:12161,12965,24005,0,11041,10096:4511713	0	0	0	8
chr19	4512233	4512233	G	A	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.C1727T:p.A576V,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.024	B	0.005	B	0.275	N	1.000	N	-0.915	N	4.13	T	-0.922	T	0.004	T	0.029	-0.749	0.820	-0.74	-0.234	.	9.302	0.021	0.0103807921145	.	0.000798722	0.0002	0	0	0	0	7.497e-05	0	0.0013	0.000207	32	154602	rs528441447	7.939e-05	0.0001	4.222e-05	0.0001	0.0012	6.737e-05	6.27e-05	0.0010	0.0009	0	0	0	0	1.877e-05	0	4.498e-06	9.944e-05	0.0012	7.316e-05	9.232e-05	1.299e-05	0.0001	0.0021	4.019e-05	3.162e-05	0.0011	0.0009	0	0	0	0	0	0	0	1.477e-05	0	0.0021	1.0	0.00964	T	0.481	0.11864	T	0.024	0.19075	B	0.005	0.11217	B	0.275422	0.03798	N	1.568620	1	0.08975	N	0.345	0.11182	N	4.13	0.02865	T	0.64	0.02368	N	0.055	0.03283	-0.9222	0.45252	T	0.004	0.01365	T	10	0.009662837	0.00217	T	0.010381	0.26850	T	0.021	0.04004	0.392	0.41606	0.0138822411134	0.00435	0.010294702065459621	0.00990	.	.	0.184595689178	0.00144	T	0.007172	0.06585	T	-0.724576	0.00026	T	-0.878335	0.00668	T	0.00828866567595403	0.00100	T	0.133087	0.01051	T	0.022085667	0.00848	0.039208926	0.03962	0.022085667	0.00848	0.039208926	0.03962	-1.456	0.01676	T	.	.	0.075	0.05623	B	.;.	.;.	-1.530126	0.00277	0.004	0.22435323964616424	0.00902	0.00583	0.02625	N	AEFDBCI	0.032243	0.03604	N	-1.54733782127048	0.01550	0.06771677	-1.49717362435428	0.02368	0.1087769	7.07428038902458E-4	0.07666	0.582742	0.33608	0	0.550933	0.16991	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	5.15	-0.74	0.10555	-1.643000	0.02106	-10.083000	0.00741	-1.729000	0.00717	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5396:0.0:0.4604:0.0	9.302	0.37013	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	0.02381	6569.98	299	chr19	4512233	.	G	A	6569.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.091;DP=7044;ExcessHet=0.0000;FS=0.520;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=-9.260e-01;QD=14.38;ReadPosRankSum=0.293;SOR=0.637	GT:AD:DP:GQ:PL	0/1:212,245:457:99:6584,0,5289	20	0	1	0
chr19	6380927	6380927	G	A	exonic	GTF2F1	.	nonsynonymous SNV	GTF2F1:NM_002096:exon11:c.C1208T:p.A403V,	.	.	421	1096	4	1	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	1.0	D	0.998	D	0.000	D	1.000	D	1.87	L	0.89	T	-0.755	T	0.225	T	0.449	3.729	18.94	4.46	2.188	6.739	16.259	0.309	.	0.0002	0.000798722	0.0041	0.0003	0.0009	0	0	0.0007	0	0.0163	0.0010802	167	154602	rs201144023	0.0007	0.0007	0.0004	0.0010	0.0090	0.0006	0.0006	0.0084	0.0082	9.213e-05	0	0.0025	2.621e-05	0	0.0022	9.52e-05	0.0008	0.0090	0.0004	0.0004	0.0004	0.0005	0.0087	0.0003	0.0003	0.0066	0.0059	9.624e-05	0	0	0.0029	0	0	0	0.0001	0	0.0087	0.042	0.41637	D	0.152	0.42261	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.11	0.58565	M	0.89	0.45636	T	-2.12	0.48184	N	0.506	0.53796	-0.7548	0.57683	T	0.225	0.58919	T	10	0.010064483	0.00225	T	.	.	.	0.309	0.63055	.	.	0.7488396341	0.74657	0.4955695414793611	0.49477	0.891943810357	0.70256	0.674153149128	0.63429	T	0.098063	0.40151	T	-0.391696	0.02623	T	-0.328029	0.41689	T	0.0274560688279729	0.01609	T	0.906109	0.66926	D	0.23868182	0.46748	0.2316526	0.48303	0.23868182	0.46748	0.2316526	0.48302	-7.014	0.54136	T	.	.	0.234	0.54492	B	.;.	.;.	4.731597	0.76216	26.5	0.99908225160522568	0.97801	0.95257	0.64022	D	AEFBCI	0.662401	0.63228	D	0.414637533372802	0.62227	4.435181	0.297945784762991	0.55418	3.704984	0.999999894881297	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.46	4.46	0.53567	5.819000	0.68924	11.526000	0.93067	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.135000	0.19760	0.0:0.0:1.0:0.0	16.259	0.82356	748	0.52143	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	222.98	34	chr19	6380927	.	G	A	222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.069;DP=698;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-2.472e+00;SOR=0.663	GT:AD:DP:GQ:PL	0/1:13,9:22:99:237,0,373	20	0	1	0
chr19	7561524	7561524	C	G	exonic	PNPLA6	.	nonsynonymous SNV	PNPLA6:NM_001166114:exon32:c.C4060G:p.L1354V	Boucher-Neuhauser syndrome, Autosomal recessive;Oliver-McFarlane syndrome, Autosomal recessive;Spastic paraplegia 39, autosomal recessive, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	998863	not_provided|Hereditary_spastic_paraplegia_39	MedGen:C3661900|MONDO:MONDO:0012787,MedGen:C2677586,OMIM:612020,Orphanet:139480	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.001	B	0.003	B	0.237	N	1.000	N	0	N	3.76	T	-0.934	T	0.007	T	0.116	1.102	9.496	-8.7	-1.322	-1.393	6.926	0.006	0.0297422353163	.	.	2.602e-05	0	0	0	0	2.327e-05	0	8.46e-05	1.29e-05	2	154602	rs150392453	1.03e-05	1.026e-05	6.826e-06	1.381e-05	0.0002	6.18e-06	4.9e-06	7.205e-05	5.541e-05	0	0	0	0	0	0.0002	1.801e-06	1.665e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.21550	T	0.755	0.07999	T	0.001	0.07471	B	0.003	0.08700	B	0.237134	0.03558	N	1.849590	1	0.08975	N	.	.	.	3.74	0.04079	T	-0.32	0.13035	N	0.029	0.01498	-0.9345	0.43470	T	0.007	0.02282	T	10	0.037819624	0.02160	T	0.029742	0.52190	D	0.006	0.00375	.	.	0.107399877778	0.10242	0.1085141679019055	0.10780	0.930252368807	0.71791	0.292412638664	0.09274	T	.	.	.	-0.479826	0.00741	T	-0.743622	0.03740	T	0.047925388469429	0.05130	T	0.666133	0.27528	T	0.02140683	0.00742	0.0319282	0.01852	0.02140683	0.00742	0.0319282	0.01852	-4.289	0.28023	T	.	.	0.060	0.01348	B	.;.;.;.;.	.;.;.;.;.	-0.145243	0.03381	0.606	0.72658796239404932	0.10050	0.00793	0.03241	N	AEFBHCI	0.057329	0.10669	N	-1.67709264869001	0.00926	0.04010714	-1.76273817707038	0.00886	0.03960722	0.649394827433012	0.22145	0.706548	0.73137	0	0.643519	0.57511	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.48	-8.7	0.00738	-1.657000	0.02081	-2.126000	0.04174	-0.217000	0.08171	0.000000	0.06391	0.000000	0.08366	0.478000	0.28520	0.2062:0.1641:0.5522:0.0775	6.926	0.23594	889	0.27310	.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	1513.98	36	chr19	7561524	.	C	G	1513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.672e+00;DP=899;ExcessHet=0.0000;FS=0.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.15;ReadPosRankSum=1.28;SOR=0.604	GT:AD:DP:GQ:PL	0/1:44,63:107:99:1528,0,1064	20	0	1	0
chr19	7612015	7612015	C	A	exonic	CAMSAP3	.	nonsynonymous SNV	CAMSAP3:NM_020902:exon11:c.C1522A:p.P508T	.	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.642	P	0.199	B	0.855	N	0.577	D	1.795	L	2.41	T	-0.971	T	0.026	T	0.058	-0.073	3.643	-0.177	0.298	0.217	3.994	0.030	0.024049034247	0.0034	0.00159744	0.0033	0.0006	0.0012	0.0003	0.0059	0.0048	0.0023	0.0013	0.0033829	523	154602	rs140623215	0.0053	0.0053	0.0055	0.0051	0.0063	0.0052	0.0052	0.0061	0.0061	0.0008	0.0009	7.655e-05	0.0001	0.0079	0.0003	0.0063	0.0040	0.0012	0.0036	0.0036	0.0036	0.0036	0.0057	0.0033	0.0032	0.0052	0.0051	0.0011	0	0.0012	0	0.0004	0.0073	0	0.0057	0.0019	0.0017	0.006	0.61437	D	0.097	0.39799	T	0.15	0.40458	B	0.066	0.36804	B	0.854946	0.08936	N	0.932203	0.577374	0.32345	D	0.55	0.14455	N	2.4	0.15608	T	-2.45	0.53577	N	0.118	0.11912	-0.9714	0.36904	T	0.026	0.11087	T	10	0.0059903264	0.00134	T	0.024049	0.47032	T	0.030	0.07022	.	.	0.102598925029	0.09809	0.5831598068232337	0.58244	0.873908091488	0.69495	0.430395305157	0.29263	T	0.019572	0.15567	T	-0.666525	0.00058	T	-0.727165	0.04458	T	0.0075979437545227	0.00088	T	0.667933	0.27701	T	0.12443356	0.29195	0.07690787	0.17082	0.12443356	0.29195	0.07690787	0.17081	-5.066	0.38096	T	.	.	0.069	0.04002	B	.;.	.;.	1.895981	0.24081	16.26	0.97578833977780932	0.34725	0.03609	0.08840	N	AEFBCI	0.082297	0.16663	N	-0.706617268390037	0.15835	0.8015859	-0.865241595842885	0.12922	0.6674905	1.23465344872047E-4	0.05386	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	2.56	-0.177	0.12654	-0.303000	0.08249	0.301000	0.16978	0.573000	0.29008	0.000000	0.06391	0.160000	0.23254	0.392000	0.26603	0.2716:0.4608:0.2675:0.0	3.994	0.09038	851	0.35303	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1651.98	34	chr19	7612015	.	C	A	1651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.790;DP=857;ExcessHet=0.0000;FS=3.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=1.67;SOR=0.845	GT:AD:DP:GQ:PL	0/1:92,69:161:99:1666,0,2277	20	0	1	0
chr19	7632831	7632831	C	A	splicing	PCP2	NM_001271830:exon2:c.4-1G>T;NM_174895:exon2:c.52-1G>T	.	.	.	.	0	225	1	0	0	1	0.00221729	0.9999	0.03	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.822	12.05	4.9	2.549	4.578	15.108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.162e-07	3.42e-06	1.415e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16813	0.70950	D	0.00372996	0.70577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.112238	0.94589	34	0.99433743634908378	0.64423	0.92829	0.56647	D	AEFBCI	.	.	.	0.924811942957555	0.92921	11.71017	0.724524417216616	0.84239	8.237509	0.999999966337656	0.74766	0.092769	0.02424	0	0.130567	0.03505	0	0.059349	0.00372	0	0.089874	0.02613	0	0.982708	0.89109	4.9	4.9	0.63643	2.459000	0.44680	5.742000	0.49579	0.599000	0.40250	0.970000	0.34288	1.000000	0.68203	0.283000	0.24091	0.0:1.0:0.0:0.0	15.108	0.72007	867	0.32089	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1835.98	34	chr19	7632831	.	C	A	1835.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.170e+00;DP=853;ExcessHet=0.0000;FS=3.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=1.14;SOR=0.435	GT:AD:DP:GQ:PL	0/1:78,78:156:99:1850,0,2018	20	0	1	0
chr19	8111069	8111069	C	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon33:c.G4199A:p.R1400Q	.	.	415	1089	17	1	0	19	0.00864816	.	.	1128262	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.044	B	0.027	B	0.003	U	0.999	N	1.41	L	-2.93	D	-0.450	T	0.493	T	0.082	0.486	6.636	1.43	0.147	-0.205	6.422	0.077	0.0572352569287	0.0012	0.000998403	0.0016	0.0002	0.0020	0.0019	0.0006	0.0021	0.0034	0.0006	0.0016041	248	154602	rs140448414	0.0017	0.0017	0.0017	0.0017	0.0142	0.0017	0.0016	0.0117	0.0108	0.0003	0.0026	0.0005	0.0018	0.0002	0.0142	0.0018	0.0016	0.0007	0.0017	0.0017	0.0019	0.0016	0.0032	0.0016	0.0015	0.0025	0.0022	0.0004	0.0077	0.0032	0.0006	0.0017	0	0.0102	0.0025	0.0024	0.0004	0.319	0.13610	T	0.402	0.14912	T	0.044	0.21686	B	0.027	0.21085	B	0.002601	0.36243	U	0.206112	0.999418	0.21230	N	2.05	0.56469	M	-2.93	0.91800	D	-1.57	0.37955	N	0.09	0.06854	-0.4500	0.70400	T	0.493	0.80757	T	10	0.0081424415	0.00185	T	0.057235	0.66892	D	0.077	0.22490	.	.	0.664903063441	0.66208	0.2750296332005099	0.27415	0.319035525961	0.34116	0.213713020086	0.00979	T	0.124644	0.44982	T	-0.429756	0.01487	T	-0.394706	0.34001	T	0.0168729701527566	0.00440	T	0.292171	0.05356	T	0.06540151	0.13973	0.05813196	0.10688	0.06540151	0.13973	0.05813196	0.10688	-5.347	0.40406	T	.	.	0.066	0.02091	B	.;.;.	.;.;.	1.502334	0.19308	14.20	0.95475789574083936	0.27030	0.04438	0.10037	N	AEFDBI	0.063337	0.12232	N	-0.821365042290503	0.12765	0.624336	-0.856969919442249	0.13121	0.6788787	0.532305430104596	0.21185	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	3.67	1.43	0.21585	-0.509000	0.06419	.	.	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.0:0.4446:0.0:0.5554	6.422	0.20953	923	0.18507	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2543.98	34	chr19	8111069	.	C	T	2543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=884;ExcessHet=0.0000;FS=7.138;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=0.986;SOR=1.143	GT:AD:DP:GQ:PL	0/1:96,94:190:99:2558,0,2367	20	0	1	0
chr19	8123798	8123798	C	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon23:c.G2942A:p.R981Q	.	.	422	1082	17	1	0	19	0.00870362	.	.	1149199	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.105	B	0.005	B	0.005	N	0.968	D	1.525	L	-2.21	D	-0.791	T	0.334	T	0.173	0.907	8.688	-2.4	-0.680	-0.164	8.030	0.213	0.00630185888527	0.0010	0.000998403	0.0015	0.0008	0.0020	0.0002	0.0002	0.0020	0.0047	0.0005	0.0015977	247	154602	rs147035742	0.0017	0.0017	0.0017	0.0017	0.0146	0.0016	0.0016	0.0121	0.0112	0.0005	0.0030	0.0005	7.557e-05	3.789e-05	0.0146	0.0019	0.0016	0.0008	0.0017	0.0017	0.0018	0.0016	0.0029	0.0015	0.0015	0.0022	0.0021	0.0007	0.0077	0.0029	0.0006	0.0002	0	0.0102	0.0025	0.0019	0.0004	0.025	0.47320	D	0.034	0.52727	D	0.105	0.25993	B	0.005	0.11217	B	0.004892	0.33292	N	0.265877	0.967826	0.38619	D	1.21	0.30464	L	-2.21	0.86963	D	-1.98	0.45769	N	0.199	0.21969	-0.7912	0.55659	T	0.334	0.70142	T	10	0.015554756	0.00326	T	0.006302	0.16551	T	0.213	0.50496	.	.	0.485991781493	0.48229	0.6298403361476462	0.62918	0.232148426963	0.25761	0.223081871867	0.01496	T	0.047907	0.27862	T	-0.407141	0.02077	T	-0.361285	0.37903	T	0.00994885775574709	0.00132	T	0.860814	0.55431	D	0.043586027	0.06818	0.04302608	0.05258	0.043586027	0.06818	0.04302608	0.05258	-7.864	0.60140	D	.	.	0.067	0.02342	B	.;.;.	.;.;.	-0.265406	0.02772	0.375	0.95980123835058828	0.28354	0.15338	0.18862	N	AEFDBI	0.137104	0.25798	N	-1.23649935210711	0.04481	0.2023165	-1.35407493213619	0.03758	0.1759698	0.00144747819953945	0.08543	0.631515	0.41029	0	0.573888	0.26702	0	0.697927	0.64325	0	0.613276	0.41899	0	.	.	3.41	-2.4	0.06204	-0.300000	0.08280	.	.	-1.112000	0.01489	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6111:0.0:0.3889	8.030	0.29619	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	500.98	34	chr19	8123798	.	C	T	500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.026e+00;DP=725;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=1.02;SOR=0.765	GT:AD:DP:GQ:PL	0/1:18,19:37:99:515,0,550	20	0	1	0
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|2:480,0,79:559:99:0|1:8888745_G_C:1805,3249,22773,0,19524,19286:8888745	8	0	6	3
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	0/1:227,107,43,42:438:99:.:.:4578,0,9402,2655,7918,12242,3617,8062,10717,13857	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|1:285,103,43:431:99:0|1:8888826_T_*:3467,0,11657,2519,10162,14357:8888826	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|1:254,19,0:273:33:0|1:8888861_T_*:33,0,10608,798,10665,11463:8888861	15	0	3	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	2/2:0,2,132:134:99:5776,5695,5850,398,324,0	2	0	2	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	57518.43	140	chr19	12430730	.	A	C,*	57518.43	.	AC=18,3;AF=0.429,0.071;AN=42;BaseQRankSum=-2.194e+00;DP=3284;ExcessHet=2.0051;FS=0.000;InbreedingCoeff=-0.0476;MLEAC=18,3;MLEAF=0.429,0.071;MQ=58.31;MQRankSum=-5.036e+00;QD=22.67;ReadPosRankSum=-5.040e-01;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,171,0:171:99:1|1:12430718_C_A:7675,515,0,7675,515,7675:12430718	5	4	10	0
chr19	12465275	12465275	C	G	exonic	ZNF709	.	nonsynonymous SNV	ZNF709:NM_152601:exon4:c.G647C:p.R216T,	.	.	389	1131	2	0	0	2	0.000883392	.	.	2274307	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.9	P	0.229	N	1.000	N	2.515	M	1.8	T	-1.028	T	0.107	T	0.239	3.805	19.32	-4.01	-0.794	-0.403	5.130	0.071	0.00133890963225	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1398482487	1.369e-06	1.368e-06	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.657e-05	0	6.583e-06	6.571e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.032	0.44694	D	0.012	0.63918	D	0.997	0.70673	D	0.9	0.63913	P	0.229331	0.15956	N	0.457386	1	0.08975	N	1.66	0.42513	L	1.8	0.25344	T	-3.31	0.65972	D	0.19	0.22098	-1.0284	0.20973	T	0.107	0.38979	T	10	0.218216	0.38456	T	0.001339	0.01910	T	0.071	0.20720	0.621	0.75576	0.446813524615	0.44301	0.05283859166054246	0.05225	1.04302437704	0.75864	0.283849090338	0.08035	T	0.147733	0.48596	T	-0.231871	0.16402	T	-0.570843	0.15373	T	0.948171496391296	0.62838	D	0.570043	0.20293	T	0.10366457	0.24503	0.069469675	0.14641	0.10366457	0.24503	0.069469675	0.14641	-6.581	0.50907	T	.	.	0.716	0.73625	P	.;.	.;.	1.875123	0.23817	16.16	0.97555852658281395	0.34593	0.00002	0.00064	N	AEFBHCI	0.058635	0.11015	N	-0.382892206130096	0.26079	1.420525	-0.703731692766706	0.16867	0.8943312	6.63739893249886E-5	0.04366	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	2.22	-4.01	0.03775	-1.065000	0.03569	.	.	0.523000	0.23987	0.000000	0.06391	0.109000	0.22772	0.996000	0.76049	0.4855:0.3963:0.0:0.1183	5.130	0.14235	917	0.20147	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	0.04762	4039.08	40	chr19	12465275	.	C	G	4039.08	.	AC=2;AF=0.048;AN=42;DP=996;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.11;SOR=0.986	GT:AD:DP:GQ:PL	1/1:0,122:122:99:4067,366,0	20	1	0	0
chr19	15439579	15439579	G	T	exonic	WIZ	.	nonsynonymous SNV	WIZ:NM_001371589:exon4:c.C1415A:p.P472H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.002	N	1.000	D	.	.	4.11	T	-1.089	T	0.019	T	0.218	1.936	12.43	3.03	0.754	2.542	8.518	0.054	0.00265355355316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001644	0.38382	N	0.110120	0.999999	0.58761	D	.	.	.	.	.	.	.	.	.	.	.	-1.0888	0.05735	T	0.019	0.07893	T	7	0.15592214	0.29376	T	0.002654	0.05406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.613539	0.23382	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.44885	B	.	.	2.942065	0.39120	20.9	0.99383786611228442	0.62024	0.78302	0.38611	D	AEFDBCI	0.217630	0.34273	N	-0.0375311183385314	0.40162	2.380377	-0.0728850108532221	0.36516	2.126065	0.0252420022270558	0.13635	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	5.13	3.03	0.34070	2.606000	0.45956	.	.	0.618000	0.50648	0.997000	0.40164	1.000000	0.68203	0.024000	0.12247	0.1793:0.0:0.8207:0.0	8.518	0.32418	653	0.62661	Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	33.16	85	chr19	15439579	.	G	T	33.16	.	AC=2;AF=0.059;AN=34;DP=85;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2664;MLEAC=2;MLEAF=0.059;MQ=60.00;QD=16.58;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	16	1	0	4
chr19	15794206	15794206	G	A	exonic	OR10H5	.	nonsynonymous SNV	OR10H5:NM_001004466:exon1:c.G158A:p.R53H,	.	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.003	B	0.003	B	0.022	N	1.000	N	0.19	N	5.36	T	-0.911	T	0.002	T	0.131	-1.325	0.032	-0.431	-0.251	-0.880	4.016	0.020	0.0035620883123	.	0.000199681	6.589e-05	0	0	0.0001	0	2.997e-05	0	0.0003	5.82e-05	9	154602	rs201519867	6.225e-05	6.225e-05	6.67e-05	5.775e-05	0.0005	5.161e-05	4.78e-05	0.0002	0.0001	0	4.472e-05	0	5.038e-05	0	0.0005	5.306e-05	6.623e-05	0.0002	5.258e-05	5.251e-05	9e-05	1.345e-05	0.0002	2.558e-05	1.831e-05	2.848e-05	1.859e-05	2.408e-05	0	0	0	0.0002	0	0	7.354e-05	0	0.0002	0.475	0.08359	T	0.634	0.07105	T	0.003	0.11197	B	0.003	0.08700	B	0.021808	0.26758	N	0.266615	1	0.08975	N	0.585	0.15399	N	5.36	0.01050	T	-1.31	0.32791	N	0.064	0.03613	-0.9106	0.46781	T	0.002	0.00707	T	10	0.031183064	0.01250	T	0.003562	0.08123	T	0.020	0.03691	.	.	0.124217242631	0.12060	0.12644482595106277	0.12570	0.349266294776	0.36782	0.161790028214	0.00012	T	0.004617	0.04028	T	-0.585545	0.00178	T	-0.756905	0.03225	T	0.0203822683542967	0.00738	T	0.218978	0.02800	T	0.037217133	0.04729	0.025494576	0.00596	0.037217133	0.04729	0.025494576	0.00596	-1.685	0.02190	T	.	.	0.081	0.08417	B	.;.	.;.	0.542251	0.09109	5.891	0.32810467119076919	0.01921	0.02859	0.07623	N	AEFBI	0.051068	0.08986	N	-1.32502800582452	0.03391	0.1513942	-1.35247099962648	0.03777	0.1768771	1.48381711586254E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.47	-0.431	0.11682	-0.883000	0.04278	.	.	-0.142000	0.12367	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3671:0.1743:0.4587:0.0	4.016	0.09133	976	0.04745	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	0.04762	9103.08	229	chr19	15794206	.	G	A	9103.08	.	AC=2;AF=0.048;AN=42;DP=3674;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.37;QD=32.40;SOR=1.046	GT:AD:DP:GQ:PL	1/1:0,281:281:99:9131,842,0	20	1	0	0
chr19	15879802	15879802	T	G	exonic	CYP4F2	.	nonsynonymous SNV	CYP4F2:NM_001082:exon10:c.A1211C:p.Q404P,	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.979	D	0.932	D	0.032	U	1.000	D	2.845	M	-0.39	T	-0.078	T	0.457	T	0.593	1.655	11.49	2.78	1.252	3.395	8.967	0.524	0.0204302071039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.013	0.63109	D	0.979	0.59044	D	0.932	0.66722	D	0.032016	0.25089	U	0.319446	0.997044	0.43591	D	3.91	0.96185	H	-0.39	0.69158	T	-3.97	0.73684	D	0.675	0.68255	-0.0781	0.80596	T	0.457	0.78889	T	10	0.83292985	0.82453	D	0.02043	0.43023	T	0.524	0.79825	0.604	0.73586	0.825749811365	0.82409	0.8348156842057224	0.83440	0.671559329977	0.59466	0.333043277264	0.15393	T	0.221985	0.58570	T	0.0756719	0.61531	D	-0.129079	0.61049	T	0.977413237094879	0.71833	D	0.859214	0.55036	D	0.92091405	0.93337	0.8451373	0.91179	0.92091405	0.93338	0.8451373	0.91179	-13.712	0.92083	D	.	.	0.492	0.64210	A	.;.	.;.	3.990395	0.58720	24.0	0.99246766318349089	0.56727	0.82398	0.41631	D	AEFDBHCI	0.808978	0.73261	D	0.334021728871265	0.57903	3.959568	0.15130641697905	0.47211	2.955	2.29942251699395E-4	0.06048	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.78	2.78	0.31702	3.495000	0.53043	.	.	0.576000	0.29215	1.000000	0.71638	0.392000	0.24668	0.169000	0.20946	0.0:0.0:0.0:1.0	8.967	0.35044	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	5176.08	46	chr19	15879802	.	T	G	5176.08	.	AC=2;AF=0.048;AN=42;DP=961;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.56;SOR=0.768	GT:AD:DP:GQ:PL	1/1:0,164:164:99:5204,493,0	20	1	0	0
chr19	17286651	17286651	-	GT	exonic	ANKLE1	.	frameshift insertion	ANKLE1:NM_001278444:exon8:c.1730_1731insGT:p.L591Vfs*19,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	406.05	34	chr19	17286647	.	GGTGT	GGTGTGT,G	406.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.852;DP=999;ExcessHet=0.1072;FS=1.025;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=6.25;ReadPosRankSum=0.956;SOR=0.937	GT:AD:DP:GQ:PL	0/1:27,10,0:39:99:118,0,1307,277,1363,2027	19	0	1	0
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	0/3:29,0,4,12:45:99:.:.:296,412,1722,239,1522,1483,0,1107,969,1036	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	0/2:27,6,12,0:45:99:.:.:296,169,1391,0,884,1036,381,1326,1083,1519	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	0/1:26,18,0:44:99:.:.:481,0,954,614,1025,1811	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	0/1:25,18,0:43:99:.:.:742,0,931,631,991,2032	0	10	3	0
chr19	17834887	17834887	C	T	exonic	JAK3	.	nonsynonymous SNV	JAK3:NM_000215:exon16:c.G2164A:p.V722I,	SCID, autosomal recessive, T-negative/B-positive type, Autosomal recessive	.	1	1437	82	2	0	86	0.0290541	.	.	138312	not_specified|JAK3-related_disorder|T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency|not_provided|Acute_megakaryoblastic_leukemia|Lymphoblastic_leukemia,_acute,_with_lymphomatous_features	MedGen:CN169374|.|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802,Orphanet:35078|MedGen:C3661900|Human_Phenotype_Ontology:HP:0006733,MONDO:MONDO:0018872,MeSH:D007947,MedGen:C0023462,Orphanet:518|MONDO:MONDO:0009539,MedGen:C1855472,OMIM:247640,Orphanet:513	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.03	D	0.001	B	0.004	B	0.243	N	1.000	N	0.46	N	0.06	T	-1.014	T	0.085	T	0.081	0.858	8.473	0.248	-0.126	1.524	7.741	0.156	.	0.0095	0.00359425	0.0086	0.0023	0.0041	0	0.0035	0.0130	0.0077	0.0051	0.0085769	1326	154602	rs3213409	0.0100	0.0100	0.0099	0.0101	0.0229	0.0099	0.0098	0.0197	0.0185	0.0026	0.0057	0.0260	2.519e-05	0.0047	0.0229	0.0109	0.0095	0.0053	0.0075	0.0075	0.0082	0.0068	0.0115	0.0071	0.0070	0.0109	0.0106	0.0018	0	0.0069	0.0262	0	0.0033	0.0068	0.0115	0.0076	0.0064	0.029	0.47320	D	0.067	0.44302	T	0.001	0.07471	B	0.004	0.10090	B	0.243360	0.15664	N	0.618726	1	0.08975	N	0.49	0.13296	N	0.06	0.61798	T	-0.8	0.22294	N	0.032	0.01135	-1.0145	0.25497	T	0.085	0.33241	T	10	0.0028762817	0.00046	T	.	.	.	0.156	0.40720	.	.	0.348454897831	0.34454	0.5311442961215286	0.53038	0.391737070457	0.40370	0.366400837898	0.20314	T	0.405752	0.76185	T	-0.531877	0.00374	T	-0.526393	0.19648	T	0.0164766271593883	0.00412	T	0.564843	0.19943	T	0.048163924	0.08350	0.051704865	0.08375	0.048167907	0.08353	0.05393384	0.09178	-6.642	0.51825	T	0.11864946227562068	0.10969	0.071	0.03849	B	.;.;.	.;.;.	1.612184	0.20598	14.82	0.97845570022248962	0.36358	0.23033	0.21944	N	AEFBCI	0.110569	0.21921	N	-0.961122929809512	0.09444	0.4470025	-0.986255251364803	0.10093	0.5062114	0.696009353993551	0.22642	0.67177	0.52595	0	0.702456	0.74545	0	0.491614	0.08109	1	0.550183	0.17644	0	.	.	4.89	0.248	0.14786	3.042000	0.49504	0.717000	0.20982	0.524000	0.24156	0.175000	0.24000	0.000000	0.08366	0.013000	0.09966	0.0:0.6163:0.0:0.3837	7.741	0.28004	964	0.07719	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	8107.68	182	chr19	17834887	.	C	T	8107.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.40;DP=1241;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-1.084e+00;SOR=0.689	GT:AD:DP:GQ:PL	0/1:90,102:192:99:2798,0,2168	18	0	3	0
chr19	18435032	18435032	G	A	exonic	ISYNA1	.	nonsynonymous SNV	ISYNA1:NM_001253389:exon8:c.C1174T:p.P392S	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.009	B	0.014	B	0.742	N	1.000	N	0.755	N	.	.	-1.010	T	0.067	T	0.262	0.963	8.930	-2.0	-0.071	1.063	7.475	0.036	0.0157696515035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.30943	T	0.185	0.36901	T	0.005	0.12996	B	0.006	0.12133	B	0.742182	0.06434	N	1.137380	1	0.08975	N	1.445	0.36358	L	.	.	.	-0.38	0.20576	N	0.037	0.26354	-1.0100	0.26917	T	0.067	0.27537	T	9	0.06423718	0.08489	T	0.01577	0.36685	T	0.036	0.09122	0.19	0.10039	0.281780670237	0.27795	0.4017849271235479	0.40094	0.26534558942	0.29086	0.33976328373	0.16403	T	0.106272	0.41748	T	-0.136465	0.30453	T	-0.433799	0.29504	T	0.0440827521461984	0.04435	T	0.564843	0.19943	T	0.05118319	0.09360	0.0435652	0.05449	0.05118319	0.09360	0.0435652	0.05449	-3.456	0.16968	T	.	.	0.071	0.05800	B	.;.;.	.;.;.	0.439131	0.08096	4.820	0.69988303923651318	0.09149	0.20303	0.20990	N	AEFDBHCI	0.145518	0.26875	N	-1.1195026127784	0.06296	0.2894752	-1.20759356411892	0.05787	0.2767211	0.999999334898053	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.93	-2.0	0.07024	0.538000	0.22869	1.171000	0.24625	0.614000	0.49286	0.002000	0.15269	0.001000	0.17328	0.002000	0.04165	0.0:0.4808:0.3578:0.1614	7.475	0.26539	952	0.10565	.;.;.	.	.	.	.	.	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	869.98	38	chr19	18435032	.	G	A	869.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=881;ExcessHet=0.0000;FS=0.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=0.378;SOR=0.523	GT:AD:DP:GQ:PL	0/1:48,35:83:99:884,0,1182	20	0	1	0
chr19	19268050	19268050	G	A	exonic	TM6SF2	.	nonsynonymous SNV	TM6SF2:NM_001001524:exon7:c.C647T:p.P216L,	.	.	406	1099	17	0	0	17	0.00767494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	U	1.000	D	2.57	M	0.75	T	-0.405	T	0.248	T	0.91	3.169	16.60	4.74	2.193	7.822	15.219	0.596	0.109003907136	0.0002	0.000599042	0.0004	0	0.0012	0	0	0.0005	0.0045	0.0002	0.0003881	60	154602	rs186811910	0.0004	0.0004	0.0004	0.0004	0.0113	0.0003	0.0003	0.0091	0.0083	0.0004	0.0011	0.0008	0	0	0.0113	0.0003	0.0011	0.0003	0.0006	0.0006	0.0006	0.0006	0.0038	0.0005	0.0005	0.0030	0.0027	9.632e-05	0	0.0038	0.0003	0	0	0.0034	0.0003	0.0028	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000240	0.47286	U	0.000000	1	0.81001	D	3.11	0.87757	M	0.75	0.50192	T	-7.98	0.96395	D	0.879	0.87699	-0.4054	0.71857	T	0.248	0.61762	T	10	0.42586207	0.57169	T	0.109004	0.78579	D	0.596	0.83965	.	.	0.356484672536	0.35262	0.6789202065776354	0.67831	0.806251199678	0.66477	0.468622773886	0.34490	T	0.298611	0.67117	T	0.0305121	0.55791	T	0.191791	0.82669	D	0.424041986465454	0.29840	T	0.973803	0.90577	D	0.6937057	0.77712	0.49910516	0.71039	0.6937057	0.77714	0.49910516	0.71040	-10.515	0.76933	D	.	.	0.327	0.55011	B	.	.	4.483275	0.69966	25.5	0.99820414673699931	0.90326	0.98494	0.83372	D	AEFDBI	0.845905	0.76280	D	0.584315029465696	0.72196	5.767704	0.446677935506681	0.64503	4.707086	0.999998193255724	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.74	4.74	0.59717	7.921000	0.86938	.	.	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.058000	0.15825	0.0:0.0:1.0:0.0	15.219	0.72983	794	0.45591	.	.	.	.	.	.	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	950.98	40	chr19	19268050	.	G	A	950.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=830;ExcessHet=0.0000;FS=1.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=0.529;SOR=0.895	GT:AD:DP:GQ:PL	0/1:48,39:87:99:965,0,1074	20	0	1	0
chr19	21056918	21056918	C	T	exonic	ZNF430	.	nonsynonymous SNV	ZNF430:NM_001172671:exon5:c.C607T:p.P203S	.	.	431	1079	11	1	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.082	B	0.026	B	.	.	0.839	N	1.455	L	1.61	T	-1.017	T	0.050	T	0.092	0.378	6.054	-2.09	-0.530	-0.892	2.777	0.005	0.0012792000576	0.0003	0.000998403	0.0016	0.0001	0.0002	0.0002	0.0002	0.0010	0.0011	0.0070	0.0013842	214	154602	rs7256437	0.0010	0.0010	0.0008	0.0012	0.0064	0.0009	0.0009	0.0060	0.0058	2.994e-05	0.0003	0	0.0002	9.367e-05	0.0023	0.0007	0.0008	0.0064	0.0006	0.0006	0.0006	0.0006	0.0048	0.0005	0.0005	0.0033	0.0028	0.0001	0	0	0	0.0002	9.423e-05	0	0.0009	0	0.0048	0.15	0.24661	T	0.145	0.33000	T	0.082	0.24665	B	0.026	0.20792	B	.	.	.	.	0.838763	0.28660	N	1.895	0.50365	L	1.61	0.28391	T	-3.57	0.68999	D	0.149	0.15187	-1.0173	0.24592	T	0.050	0.21456	T	9	0.008356005	0.00189	T	0.001279	0.01759	T	0.005	0.00259	.	.	0.0297737177859	0.01360	0.012166240733161061	0.01175	0.139298822938	0.15699	0.242090597749	0.02981	T	0.080619	0.36406	T	-0.640936	0.00082	T	-0.690547	0.06358	T	0.00829786027620292	0.00100	T	0.0383962	0.00265	T	0.06459335	0.13721	0.12360636	0.29804	0.06459335	0.13721	0.12360636	0.29804	-4.202	0.26780	T	.	.	0.133	0.28750	B	.	.	-0.109836	0.03584	0.697	0.47525260264423635	0.03893	0.01620	0.05236	N	AEFBI	0.026657	0.02041	N	-1.32880055363593	0.03350	0.1494875	-1.4859767581626	0.02459	0.1131281	6.28953257013217E-4	0.07482	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	1.04	-2.09	0.06831	0.045000	0.13898	.	.	-0.353000	0.05553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2678:0.505:0.0:0.2272	2.777	0.05022	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	7723.9	35	chr19	21056918	.	C	T	7723.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.52;DP=1087;ExcessHet=0.0082;FS=0.535;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=17.63;ReadPosRankSum=0.074;SOR=0.752	GT:AD:DP:GQ:PL	0/1:75,56:131:99:1432,0,1978	18	1	2	0
chr19	22664651	22664651	A	G	exonic	ZNF492	.	nonsynonymous SNV	ZNF492:NM_020855:exon4:c.A982G:p.K328E,	.	.	439	1077	5	1	0	7	0.00323924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.985	D	0.968	D	.	.	1.000	N	0.55	N	3.18	T	-1.003	T	0.025	T	0.108	1.917	12.37	-1.93	0.231	-0.159	1.588	0.073	0.00110952129779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.423e-06	3.421e-06	2.725e-06	4.129e-06	4.5e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.5e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.42487	D	0.082	0.41573	T	0.985	0.61118	D	0.968	0.71741	D	.	.	.	.	0.99996	0.19072	N	0.19	0.09125	N	3.18	0.07478	T	-3.61	0.69477	D	0.06	0.03175	-1.0026	0.29168	T	0.025	0.10777	T	9	0.18712392	0.34209	T	0.00111	0.01336	T	0.073	0.21317	0.373	0.38503	0.471292358255	0.46759	0.007723581075987659	0.00737	2.77570733876	0.98820	0.373655170202	0.21354	T	0.019958	0.15803	T	-0.355793	0.04373	T	-0.748848	0.03531	T	0.390760599866444	0.28593	T	0.213579	0.02626	T	0.15951048	0.35828	0.12482801	0.30083	0.15951048	0.35828	0.12482801	0.30082	-7.848	0.60029	D	.	.	0.190	0.40794	B	.	.	2.271563	0.29037	17.99	0.90404422508786653	0.19665	0.01766	0.05546	N	AEFBI	0.042949	0.06728	N	-0.617224072562509	0.18426	0.9565757	-0.901880548290045	0.12050	0.6175986	1.65745046572396E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.12	-1.93	0.07180	-0.425000	0.07085	.	.	0.264000	0.18430	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.3605:0.3527:0.0:0.2867	1.588	0.02488	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1476.02	42	chr19	22664651	.	A	G	1476.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.020e-01;DP=853;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=37.44;MQRankSum=1.06;QD=9.77;ReadPosRankSum=-6.070e-01;SOR=0.700	GT:AD:DP:GQ:PL	0/1:82,69:151:99:1490,0,1985	20	0	1	0
chr19	22758131	22758131	T	C	exonic	ZNF99	.	nonsynonymous SNV	ZNF99:NM_001080409:exon4:c.A1778G:p.Y593C,	.	.	430	1084	7	1	0	9	0.00413413	.	.	2356860	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.952	P	0.791	P	.	.	1.000	N	1.885	L	1.8	T	-1.022	T	0.085	T	0.077	-0.783	0.723	-0.090	-0.871	-0.646	2.606	0.043	0.00277274776687	0.0013	0.000199681	0.0006	0.0001	0.0003	0	0	0.0011	0	6.063e-05	0.0005563	86	154602	rs201994212	0.0007	0.0007	0.0007	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	8.992e-05	0.0005	0	0	9.364e-05	0.0009	0.0009	0.0008	3.482e-05	0.0005	0.0005	0.0006	0.0005	0.0009	0.0004	0.0004	0.0007	0.0007	0.0001	0	0.0006	0	0	9.439e-05	0	0.0009	0.0005	0.0002	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.135	0.59519	M	1.8	0.25344	T	-7.47	0.94958	D	0.158	0.23506	-1.0215	0.23227	T	0.085	0.33128	T	9	0.02361998	0.00624	T	0.002773	0.05752	T	0.043	0.11576	.	.	0.0846915920261	0.08053	0.01649388471049691	0.01604	0.021601103111	0.02150	0.293224066496	0.09394	T	0.222105	0.58586	T	-0.585324	0.00179	T	-0.663995	0.07999	T	0.10208860039711	0.12586	T	0.0512949	0.00654	T	0.06983752	0.15334	0.13405527	0.32131	0.06983752	0.15334	0.13405527	0.32130	-8.137	0.62000	D	.	.	0.161	0.35663	B	.;.	.;.	1.972161	0.25051	16.62	0.56167519226708829	0.05494	0.00395	0.01981	N	AEFBI	0.027713	0.02312	N	-0.87217645323077	0.11508	0.5557141	-1.16561469667765	0.06492	0.3126775	2.92955826689294E-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	-0.0905	0.13000	-0.713000	0.05110	.	.	0.307000	0.19059	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.2219:0.1695:0.0:0.6086	2.606	0.04581	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	.	.	.	.	.	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	2257.98	163	chr19	22758131	.	T	C	2257.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=1969;ExcessHet=0.0000;FS=6.788;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.76;MQRankSum=5.13;QD=10.80;ReadPosRankSum=0.698;SOR=0.865	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,91:209:99:1|0:22758097_G_A:2272,0,4227:22758097	20	0	1	0
chr19	35511468	35511492	ACCACTGCTGCCGCCACTGCTGCCG	0	exonic	DMKN	.	.	.	.	.	2	141	1	0	82	83	0.00353357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1248.58	34	chr19	35511468	.	ACCACTGCTGCCGCCACTGCTGCCG	A,*	1248.58	.	AC=1,7;AF=0.024,0.167;AN=42;BaseQRankSum=0.761;DP=1237;ExcessHet=3.5521;FS=1.779;InbreedingCoeff=-0.2353;MLEAC=1,7;MLEAF=0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=0.054;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:57,0,38:95:99:.:.:1442,1614,3981,0,2368,2235	13	0	1	0
chr19	35806769	35806769	G	A	exonic	PRODH2	.	nonsynonymous SNV	PRODH2:NM_001378293:exon6:c.C740T:p.A247V	.	.	411	1086	25	0	0	25	0.0113792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.886	P	.	.	1.000	D	2.87	M	1.28	T	-0.562	T	0.185	T	0.767	4.512	24.3	4.94	2.574	7.733	15.710	0.433	0.0848196410209	0.0018	0.00199681	0.0018	0.0003	0.0014	0.0003	0	0.0023	0	0.0028	0.0014942	231	154602	rs148996461	0.0013	0.0013	0.0012	0.0013	0.0182	0.0012	0.0012	0.0153	0.0143	0.0003	0.0016	0.0149	0.0001	9.379e-05	0.0182	0.0008	0.0023	0.0028	0.0015	0.0015	0.0016	0.0015	0.0048	0.0014	0.0013	0.0040	0.0036	0.0003	0	0.0048	0.0150	0	0	0.0170	0.0010	0.0047	0.0035	0.001	0.78490	D	0.002	0.79402	D	0.998	0.73220	D	0.886	0.62898	P	.	.	.	.	0.999999	0.58761	D	.	.	.	1.28	0.35960	T	-3.41	0.67129	D	0.527	0.55626	-0.5622	0.66320	T	0.185	0.53361	T	9	0.024158657	0.00655	T	0.08482	0.74405	D	0.433	0.73879	.	.	0.495038369364	0.49138	0.917729499040338	0.91747	0.592755175315	0.54650	0.541399598122	0.44643	T	0.629359	0.88493	D	-0.228277	0.16878	T	-0.104672	0.63032	T	0.0630171359686066	0.07634	T	0.80292	0.44963	T	0.27929047	0.50980	0.3533046	0.60894	0.27929047	0.50979	0.3533046	0.60894	-7.737	0.59264	D	.	.	0.150	0.33179	B	.	.	4.528629	0.71068	25.6	0.99937806449776112	0.99698	0.96758	0.70782	D	AEFDBI	0.928981	0.91404	D	0.694588966654963	0.79276	7.044066	0.587258987438839	0.74024	6.06752	0.999999205579871	0.74766	0.55562	0.30534	0	0.59043	0.45803	0	0.68496	0.61776	0	0.613276	0.41899	0	.	.	4.94	4.94	0.64645	6.769000	0.74780	9.703000	0.81309	-0.167000	0.11441	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	0.0:0.0:1.0:0.0	15.710	0.77376	747	0.52260	Proline dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	905.98	26	chr19	35806769	.	G	A	905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.850e-01;DP=740;ExcessHet=0.0000;FS=3.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.36;ReadPosRankSum=0.776;SOR=0.346	GT:AD:DP:GQ:PL	0/1:27,32:59:99:920,0,702	20	0	1	0
chr19	37412673	37412673	T	C	exonic	ZNF569	.	nonsynonymous SNV	ZNF569:NM_001330482:exon5:c.A1508G:p.Y503C	.	.	410	1109	2	1	0	4	0.00180018	.	.	3361297	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.995	D	0.009	N	1.000	N	2.74	M	1.8	T	-0.848	T	0.147	T	0.738	2.445	14.13	3.14	0.741	0.291	4.578	0.202	0.0106413671043	.	.	8.254e-05	0	0.0007	0	0	3.003e-05	0	0	6.47e-05	10	154602	rs747306043	3.079e-05	3.078e-05	2.723e-05	3.438e-05	0.0006	2.347e-05	2.095e-05	0.0005	0.0004	2.987e-05	0.0006	3.83e-05	0	0	0.0002	6.295e-06	8.281e-05	1.16e-05	0.0001	0.0001	6.422e-05	0.0002	0.0010	7.089e-05	5.746e-05	0.0006	0.0005	4.822e-05	0	0.0010	0	0	0	0	0	0	0	0.001	0.78490	D	0.008	0.69154	D	1.0	0.90584	D	0.995	0.83170	D	0.008961	0.30578	N	0.000000	0.741466	0.29730	N	2.345	0.67358	M	1.8	0.25344	T	-5.58	0.90568	D	0.438	0.49055	-0.8477	0.52127	T	0.147	0.47183	T	10	0.12216997	0.23171	T	0.010641	0.27409	T	0.202	0.48754	0.603	0.73466	0.523082183605	0.51953	0.3073746671299977	0.30650	0.650027185454	0.58299	0.637100934982	0.58152	T	0.354733	0.72184	T	-0.25425	0.13582	T	-0.224718	0.52282	T	0.316531717777252	0.25681	T	0.537746	0.21384	T	0.479049	0.65843	0.39182153	0.63942	0.479049	0.65843	0.39182153	0.63942	-7.181	0.55345	T	.	.	0.607	0.69751	P	.;.;.	.;.;.	4.944200	0.81613	27.6	0.99718360210941748	0.81843	0.27344	0.23251	N	AEFGBCI	0.204091	0.33056	N	0.00491316972597985	0.42079	2.528618	-0.0898367566427423	0.35808	2.076177	0.193001730981201	0.18023	0.638212	0.43195	0	0.633656	0.55848	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.16	3.14	0.35196	-0.722000	0.05061	.	.	0.644000	0.52426	0.000000	0.06391	0.998000	0.33993	0.985000	0.61073	0.1696:0.0957:0.0:0.7347	4.578	0.11640	634	0.64659	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	1010.98	36	chr19	37412673	.	T	C	1010.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=0.037;SOR=0.653	GT:AD:DP:GQ:PL	0/1:50,40:90:99:1025,0,1308	20	0	1	0
chr19	37635541	37635541	C	T	exonic	ZFP30	.	nonsynonymous SNV	ZFP30:NM_001320666:exon6:c.G1000A:p.A334T	.	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.964	D	0.831	P	0.004	N	1.000	N	0.405	N	2.31	T	-1.096	T	0.038	T	0.394	2.577	14.58	2.95	2.223	-1.104	4.582	0.174	0.00451072187831	0.0009	0.000599042	0.0003	0.0022	0.0002	0	0	0.0001	0	0	0.0002523	39	154602	rs141842856	0.0001	0.0001	0.0001	0.0001	0.0025	0.0001	0.0001	0.0021	0.0019	0.0025	0.0002	0	0	0	0.0007	6.205e-05	0.0003	0	0.0007	0.0007	0.0007	0.0008	0.0024	0.0006	0.0006	0.0020	0.0019	0.0024	0	0.0003	0	0	0	0	5.882e-05	0.0019	0	0.185	0.21550	T	0.371	0.16425	T	0.964	0.55854	D	0.831	0.59664	P	0.003675	0.34636	N	0.000000	1	0.81001	D	0.38	0.12130	N	2.31	0.16794	T	-2.12	0.48184	N	0.25	0.28264	-1.0956	0.04667	T	0.038	0.16290	T	10	0.013014019	0.00277	T	0.004511	0.11094	T	0.174	0.44019	.	.	0.367992661779	0.36405	0.028239613135286393	0.02773	0.486635153239	0.47518	0.622105419636	0.56026	T	0.149553	0.48861	T	-0.513588	0.00479	T	-0.516058	0.20695	T	0.056295092815681	0.06572	T	0.229177	0.03066	T	0.10951888	0.25893	0.13639335	0.32630	0.10951888	0.25893	0.13639335	0.32630	-5.625	0.43020	T	.	.	0.128	0.28057	B	.;.	.;.	3.192632	0.43383	21.7	0.99859430731946053	0.93820	0.21436	0.21401	N	AEFDGBHCI	0.106616	0.21267	N	0.00283102208576506	0.41985	2.521209	-0.0391863782766389	0.37961	2.229943	0.451928258260589	0.20548	0.566229	0.32551	0	0.615513	0.52658	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.99	2.95	0.33285	0.103000	0.15128	.	.	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.3465:0.5436:0.0:0.1099	4.582	0.11660	662	0.61715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	2004.98	36	chr19	37635541	.	C	T	2004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.056;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.85;ReadPosRankSum=-1.255e+00;SOR=0.759	GT:AD:DP:GQ:PL	0/1:50,69:119:99:2019,0,1336	20	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.001	B	.	.	1.000	N	0.55	N	-0.28	T	-0.989	T	0.121	T	0.114	1.268	10.14	-4.52	-1.174	-2.695	8.886	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	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	0.3438	3239.79	87	chr19	37887093	.	A	G	3239.79	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-3.813e+00;DP=2213;ExcessHet=7.7275;FS=216.184;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.38;SOR=11.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,14:95:57:0|1:37887093_A_G:57,0,2883:37887093	5	0	11	5
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.001	B	.	.	1.000	N	0	N	1.1	T	-1.038	T	0.044	T	0.146	0.505	6.738	0.383	0.403	-0.759	2.678	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	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	6132.23	64	chr19	37887095	.	C	T	6132.23	.	AC=15;AF=0.500;AN=30;BaseQRankSum=-4.055e+00;DP=2145;ExcessHet=17.4423;FS=296.629;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.600;MQ=60.00;MQRankSum=0.00;QD=3.74;ReadPosRankSum=1.29;SOR=12.164	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,32:104:99:0|1:37887093_A_G:407,0,1769:37887093	0	0	15	6
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.213	B	0.033	B	.	.	1.000	N	0	N	1.06	T	-1.038	T	0.045	T	0.239	-0.012	3.951	2.35	0.269	1.921	5.276	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	5559.48	64	chr19	37887096	.	A	G	5559.48	.	AC=15;AF=0.469;AN=32;BaseQRankSum=-3.174e+00;DP=2173;ExcessHet=17.4423;FS=266.005;InbreedingCoeff=-0.7148;MLEAC=18;MLEAF=0.563;MQ=60.00;MQRankSum=0.00;QD=3.41;ReadPosRankSum=1.27;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,14:95:57:0|1:37887093_A_G:57,0,2883:37887093	1	0	15	5
chr19	39383711	39383711	C	T	exonic	SAMD4B	.	nonsynonymous SNV	SAMD4B:NM_001303614:exon13:c.C2060T:p.P687L	.	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370853251563	.	0.000199681	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs562963578	1.371e-05	1.3e-05	9.976e-06	1.754e-05	0.0002	8.77e-06	7.07e-06	8.34e-06	6.62e-06	0	0	0	2.799e-05	0	0.0002	1.39e-05	1.727e-05	1.252e-05	1.969e-05	1.968e-05	3.854e-05	0	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	.	.	.	0.324	0.18903	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.12061313	0.22848	T	0.370853	0.92742	D	.	.	.	.	0.767349866357	0.76522	.	.	.	.	.	.	.	0.002644	0.02035	T	-0.119088	0.33274	T	-0.298779	0.44853	T	.	.	.	0.463454	0.13490	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.36947	B	.	.	1.362327	0.17716	13.33	0.92888039278404677	0.22438	0.80140	0.39858	D	AEFBI	0.249037	0.36934	N	.	.	.	.	.	.	0.998508832767923	0.37090	0.706548	0.73137	0	0.702456	0.74545	0	0.786243	0.99158	0	0.714379	0.83352	0	.	.	3.81	3.81	0.43020	1.616000	0.36543	.	.	-0.257000	0.07002	0.900000	0.31427	0.005000	0.19230	0.980000	0.58198	0.0:1.0:0.0:0.0	11.413	0.49179	744	0.52588	.	.	.	.	.	.	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	407.98	43	chr19	39383711	.	C	T	407.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=658;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=-1.700e-02;SOR=0.602	GT:AD:DP:GQ:PL	0/1:18,17:35:99:422,0,369	20	0	1	0
chr19	39415160	39415160	G	A	exonic	PLEKHG2	.	nonsynonymous SNV	PLEKHG2:NM_001351694:exon3:c.G278A:p.G93E	Leukodystrophy and acquired microcephaly with or without dystonia, Autosomal recessive	.	419	1100	3	0	0	3	0.00136178	.	.	1431433	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.5	T	0.125	B	0.056	B	0.197	N	1.000	N	0.895	L	1.66	T	-0.981	T	0.171	T	0.227	2.341	13.79	1.57	0.260	0.167	6.719	0.049	0.0367471052329	.	0.000199681	0.0001	0	0	0	0	0.0002	0	9.743e-05	7.76e-05	12	154602	rs200867987	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0001	3.031e-05	0.0002	0	2.577e-05	0	0.0007	0.0001	0.0003	0.0002	8.533e-05	8.529e-05	6.423e-05	0.0001	0.0002	4.952e-05	3.959e-05	6.804e-05	5.088e-05	0	0	0.0001	0	0	0	0	0.0001	0.0005	0.0002	0.094	0.46513	T	0.007	0.92824	D	0.125	0.26866	B	0.056	0.26147	B	0.197446	0.16687	N	0.537683	1	0.81001	D	0.425	0.12573	N	-0.17	0.71543	T	-2.34	0.61865	N	0.218	0.24385	-0.9808	0.34817	T	0.171	0.51197	T	10	0.043388397	0.03184	T	0.036747	0.57186	D	0.049	0.13647	0.25	0.18757	0.402755899245	0.39889	0.5802819635831604	0.57957	.	.	0.71285623312	0.69007	T	0.006023	0.05459	T	-0.294981	0.09142	T	-0.392197	0.34294	T	0.039889552039644	0.03671	T	0.605339	0.25008	T	0.06676526	0.14395	0.08310138	0.19019	0.06676526	0.14395	0.08310138	0.19019	-2.578	0.07636	T	.	.	0.117	0.27998	B	.;.;.;.	.;.;.;.	3.255341	0.44492	21.9	0.9833472741481688	0.40378	0.19585	0.20718	N	AEFDBHCI	0.093486	0.18915	N	-0.77104185685469	0.14069	0.6978668	-0.725943118749232	0.16316	0.8625386	0.999999989744741	0.74766	0.741868	0.97996	0	0.685571	0.66316	0	0.774882	0.98623	0	0.627883	0.49187	0	.	.	4.85	1.57	0.22490	0.289000	0.18713	.	.	-0.167000	0.11441	0.000000	0.06391	0.997000	0.33255	0.827000	0.38976	0.2888:0.0:0.7112:0.0	6.719	0.22506	688	0.59122	.;.;.;.	.	.	.	.	.	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	1190.98	35	chr19	39415160	.	G	A	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.91;DP=791;ExcessHet=0.0000;FS=1.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.85;ReadPosRankSum=0.730;SOR=0.998	GT:AD:DP:GQ:PL	0/1:43,43:86:99:1205,0,1041	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|1:21,11,0:32:99:0|1:40667975_C_T:395,0,828,459,861,1320:40667975	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	0/1:64,18:87:99:.:.:107,0,1520	11	0	9	1
chr19	43991910	43991910	G	A	exonic	ZNF155	.	nonsynonymous SNV	ZNF155:NM_001260486:exon4:c.G211A:p.A71T	.	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.044	B	0.027	B	.	.	1.000	N	1.37	L	3.49	T	-0.963	T	0.015	T	0.061	0.493	6.676	1.64	1.202	0.042	6.716	0.030	0.000617934799173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.736e-06	2.723e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	0.18122	T	0.537	0.11691	T	0.044	0.21686	B	0.027	0.21085	B	.	.	.	.	1	0.08975	N	0.675	0.16386	N	5.32	0.05188	T	-1.58	0.38151	N	0.166	0.17966	-0.9628	0.38645	T	0.015	0.06090	T	9	0.075161904	0.11581	T	6.18E-4	0.00303	T	0.030	0.07022	0.293	0.25560	0.112648838833	0.10856	0.01597857260087992	0.01553	0.0365107702582	0.03864	0.225918754935	0.01680	T	0.004198	0.03611	T	-0.37331	0.03430	T	-0.77401	0.02639	T	0.0426595354315809	0.04176	T	0.205679	0.02659	T	0.034619763	0.03919	0.063095294	0.12448	0.034619763	0.03918	0.063095294	0.12447	-6.006	0.46330	T	.	.	0.072	0.12132	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.471152	0.08407	5.163	0.76172498514546483	0.11361	0.06059	0.12030	N	AEFBCI	0.024760	0.01583	N	-0.944018625919644	0.09827	0.4668567	-1.03455082915869	0.09031	0.4471178	0.00624437824222985	0.11166	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.64	1.64	0.22949	-0.118000	0.10665	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.282000	0.24066	0.0:0.0:1.0:0.0	6.716	0.22492	630	0.65016	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	10232.11	299	chr19	43991910	.	G	A	10232.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.480e-01;DP=3912;ExcessHet=0.1072;FS=1.722;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=1.00;SOR=0.744	GT:AD:DP:GQ:PL	0/1:217,208:425:99:5280,0,5567	19	0	2	0
chr19	43996559	43996559	-	GAGCAATGTGGGAAAGGTTTCAGTCGTA	exonic	ZNF155	.	frameshift insertion	ZNF155:NM_001260486:exon5:c.702_703insGAGCAATGTGGGAAAGGTTTCAGTCGTA:p.S245Afs*9	.	.	412	1104	6	0	0	6	0.00271003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4994.94	217	chr19	43996559	.	T	TGAGCAATGTGGGAAAGGTTTCAGTCGTA	4994.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=4624;ExcessHet=0.0000;FS=1.537;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.82;MQRankSum=-3.879e+00;QD=20.39;ReadPosRankSum=-6.680e-01;SOR=0.773	GT:AD:DP:GQ:PL	0/1:115,130:245:99:5009,0,4353	20	0	1	0
chr19	44011364	44011364	A	G	exonic	ZNF230	.	nonsynonymous SNV	ZNF230:NM_006300:exon5:c.A1325G:p.H442R,	.	.	440	1076	5	1	0	7	0.00324224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.001	B	0.003	B	.	.	1.000	D	4.145	H	1.59	T	-0.913	T	0.141	T	0.234	1.576	11.22	1.5	0.209	1.502	6.790	0.159	0.00157214353116	.	.	1.66e-05	0	0	0	0	1.509e-05	0	6.063e-05	1.29e-05	2	154602	rs770936756	1.642e-05	1.642e-05	1.497e-05	1.788e-05	0.0002	1.111e-05	9.33e-06	1.175e-05	9.55e-06	0	2.236e-05	0	0	0	0.0002	1.799e-05	1.656e-05	1.16e-05	6.568e-06	6.566e-06	0	1.345e-05	6.541e-05	0	0	.	.	0	0	6.541e-05	0	0	0	0	0	0	0	0.013	0.53900	D	0.002	0.79402	D	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	0.999993	0.08975	N	4.07	0.97156	H	1.59	0.28836	T	-6.79	0.92863	D	0.17	0.18103	-0.9134	0.46428	T	0.141	0.46072	T	9	0.1297327	0.24687	T	0.001572	0.02497	T	0.159	0.41286	0.466	0.53729	0.259272394797	0.25527	0.03290536355076539	0.03238	0.154306874137	0.17424	0.348929315805	0.17765	T	0.151736	0.49181	T	-0.2546	0.13539	T	-0.506637	0.21661	T	0.177938048459163	0.19104	T	0.39556	0.09932	T	0.16275512	0.36372	0.19567868	0.43258	0.16275512	0.36372	0.19567868	0.43257	-6.062	0.46795	T	.	.	0.076	0.05890	B	.	.	0.444720	0.08149	4.881	0.66919653141000479	0.08200	0.00113	0.00716	N	AEFBCI	0.055869	0.10283	N	-0.809553060770685	0.13065	0.6410902	-0.957673118239309	0.10746	0.5431695	0.0115593246302031	0.12202	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	2.55	1.5	0.22029	0.884000	0.27851	.	.	-0.589000	0.04658	0.000000	0.06391	0.005000	0.19230	0.004000	0.06068	0.8735:0.0:0.1265:0.0	6.790	0.22882	599	0.68140	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2769.11	33	chr19	44011364	.	A	G	2769.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.606;DP=926;ExcessHet=0.1072;FS=1.584;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-3.230e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/1:73,62:135:99:1470,0,1829	19	0	2	0
chr19	44387371	44387371	C	T	exonic	ZNF285	.	nonsynonymous SNV	ZNF285:NM_001291491:exon3:c.G409A:p.E137K	.	.	428	1088	5	1	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.001	B	.	.	1.000	N	1.91	M	3.3	T	-0.919	T	0.016	T	0.169	1.942	12.45	-5.86	-0.747	-0.145	2.334	0.031	0.00151343146227	.	0.000199681	8.363e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs531028922	6.156e-06	6.156e-06	4.084e-06	8.25e-06	5.038e-05	2.9e-06	2.1e-06	8.35e-06	3.12e-06	2.987e-05	2.236e-05	0	5.038e-05	0	0	0	4.967e-05	2.319e-05	1.314e-05	1.313e-05	1.285e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.54e-05	0	0	0	0	0	0	0.0002	.	.	.	0.152	0.33666	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.3	0.06368	T	.	.	.	0.123	0.17140	-0.9186	0.45743	T	0.016	0.06329	T	9	0.07002258	0.10129	T	0.001513	0.02343	T	0.031	0.07369	0.445	0.50302	0.0716867268079	0.06686	0.03171292967658753	0.03120	.	.	.	.	.	.	.	.	-0.32392	0.06581	T	-0.703065	0.05660	T	0.0328854026497822	0.02452	T	0.19978	0.02250	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12228	B	.;.;.	.;.;.	0.500049	0.08693	5.464	0.92571330580662348	0.22026	0.03944	0.09342	N	AEFDGBI	0.056138	0.10355	N	-1.32528951473618	0.03388	0.1512664	-1.48550365619622	0.02462	0.1133123	0.00145570027841714	0.08551	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	3.37	-5.86	0.02114	-0.490000	0.06562	.	.	-1.436000	0.01109	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1203:0.4325:0.1187:0.3285	2.334	0.03984	912	0.21483	.;.;.	.	.	.	.	.	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	0.05	3023.82	45	chr19	44387371	.	C	T	3023.82	.	AC=2;AF=0.050;AN=40;BaseQRankSum=3.81;DP=1358;ExcessHet=0.1128;FS=0.450;InbreedingCoeff=-0.0526;MLEAC=2;MLEAF=0.050;MQ=55.16;MQRankSum=-5.570e-01;QD=11.45;ReadPosRankSum=1.68;SOR=0.653	GT:AD:DP:GQ:PL	0/1:70,55:125:99:1459,0,1839	18	0	2	1
chr19	44882231	44882231	G	A	exonic	NECTIN2	.	nonsynonymous SNV	NECTIN2:NM_001042724:exon6:c.G1063A:p.A355T,	.	.	428	1075	17	2	0	21	0.00967296	.	.	705094	not_provided|NECTIN2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.44	T	1.0	D	0.995	D	0.010	N	1.000	D	0.975	L	-0.91	T	-0.442	T	0.360	T	0.471	3.557	18.14	5.65	2.678	5.445	17.230	0.272	.	0.0057	0.00119808	0.0045	0.0008	0.0031	0.0001	0.0008	0.0064	0.0102	0.0030	0.0041073	635	154602	rs187706273	0.0054	0.0053	0.0053	0.0054	0.0063	0.0053	0.0052	0.0062	0.0061	0.0005	0.0020	0.0040	0.0004	0.0009	0.0022	0.0063	0.0037	0.0025	0.0037	0.0037	0.0041	0.0032	0.0067	0.0034	0.0033	0.0062	0.0060	0.0009	0	0.0016	0.0052	0.0004	0.0004	0	0.0067	0.0024	0.0017	0.183	0.21718	T	0.263	0.22828	T	1.0	0.90584	D	0.995	0.83170	D	0.009720	0.30236	N	0.234695	0.999968	0.52935	D	.	.	.	-0.91	0.75001	T	-1.18	0.30140	N	0.491	0.52475	-0.4422	0.70657	T	0.360	0.72163	T	10	0.012210935	0.00263	T	.	.	.	0.272	0.58758	.	.	0.871543190638	0.87029	0.28142651281630243	0.28055	0.731314236594	0.62740	0.550936341286	0.45989	T	0.101899	0.40910	T	-0.308542	0.07878	T	-0.209436	0.53748	T	0.0125267052763995	0.00207	T	0.79802	0.44234	T	0.111136384	0.26264	0.1059137	0.25470	0.111136384	0.26263	0.1059137	0.25470	-4.464	0.30414	T	.	.	0.229	0.46097	B	.	.	3.343349	0.46082	22.2	0.99780207879593275	0.86693	0.89362	0.49781	D	AEFBI	0.598349	0.59178	D	0.563878049893635	0.70932	5.574614	0.602633781147608	0.75131	6.256594	0.981929744730446	0.30328	0.634777	0.41761	0	0.588015	0.36545	0	0.606735	0.37207	0	0.645665	0.59343	0	.	.	5.65	5.65	0.86881	5.518000	0.66782	.	.	0.662000	0.56354	0.996000	0.39380	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	17.230	0.86865	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	1548.11	55	chr19	44882231	.	G	A	1548.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.87;DP=777;ExcessHet=0.1072;FS=6.929;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.177;SOR=1.302	GT:AD:DP:GQ:PL	0/1:40,31:71:99:759,0,895	19	0	2	0
chr19	47695060	47695060	C	T	exonic	BICRA	.	nonsynonymous SNV	BICRA:NM_015711:exon9:c.C3056T:p.P1019L,	.	.	424	1087	10	1	0	12	0.00548948	.	.	2818506	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.015	B	0.004	B	.	.	0.984	N	0.55	N	1.51	T	-1.054	T	0.042	T	0.206	1.436	10.74	2.36	1.633	0.372	3.742	0.025	0.253149797867	.	0.000399361	0.0023	0	0	0	0	0.0004	0	0.0032	0.0002587	40	154602	rs566879134	0.0004	0.0004	0.0004	0.0005	0.0019	0.0004	0.0004	0.0013	0.0012	0.0002	0.0004	0.0004	2.809e-05	2.901e-05	0.0019	0.0004	0.0006	0.0016	0.0005	0.0005	0.0004	0.0005	0.0012	0.0004	0.0003	0.0006	0.0005	0.0004	0	0.0010	0.0009	0.0002	0	0	0.0004	0.0009	0.0012	0.004	0.65419	D	0.01	0.65728	D	0.015	0.17086	B	0.004	0.10090	B	.	.	.	.	0.983767	0.24857	N	.	.	.	1.51	0.30937	T	-1.2	0.30555	N	0.271	0.33469	-1.0544	0.13198	T	0.042	0.17952	T	9	0.012189627	0.00263	T	0.25315	0.89200	D	0.025	0.05312	0.245	0.17984	0.043077524339	0.03247	0.3517732396465989	0.35091	0.227543361675	0.25305	0.709222197533	0.68480	T	0.010615	0.09570	T	-0.54006	0.00335	T	-0.56755	0.15675	T	0.0198505725061431	0.00687	T	0.691431	0.30091	T	0.05061061	0.09171	0.053140286	0.08894	0.05061061	0.09171	0.053140286	0.08893	-5.312	0.40062	T	.	.	0.084	0.12181	B	.;.	.;.	2.628707	0.34181	19.55	0.98929420217650343	0.48713	0.14624	0.18501	N	AEFBI	0.025813	0.01832	N	-0.615495391132795	0.18479	0.9596747	-0.554452174077509	0.20687	1.115737	0.0737832675596922	0.15645	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.43	2.36	0.28258	0.183000	0.16729	4.263000	0.42814	0.450000	0.21304	0.030000	0.20431	0.957000	0.29195	0.013000	0.09966	0.2443:0.6208:0.0:0.1349	3.742	0.08061	695	0.58372	.;.	.	.	.	.	.	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	730.11	33	chr19	47695060	.	C	T	730.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.51;DP=667;ExcessHet=0.1072;FS=1.065;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-3.600e-01;SOR=0.894	GT:AD:DP:GQ:PL	0/1:27,17:44:99:526,0,761	19	0	2	0
chr19	47701799	47701799	C	T	exonic	BICRA	.	nonsynonymous SNV	BICRA:NM_015711:exon15:c.C4067T:p.T1356M,	.	YES	416	1101	5	0	0	5	0.00226552	.	.	3294498	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.748	P	.	.	1.000	N	0.695	N	1.31	T	-1.050	T	0.085	T	0.18	0.748	7.964	1.06	0.429	1.176	6.423	0.064	0.146226265152	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1477384904	1.442e-06	2.052e-06	1.423e-06	1.462e-06	0.0002	2.4e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.289e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.005	0.72224	D	0.997	0.70673	D	0.748	0.55971	P	.	.	.	.	1	0.08975	N	.	.	.	1.31	0.35405	T	-0.91	0.24460	N	0.17	0.19459	-1.0500	0.14397	T	0.085	0.33014	T	9	0.15845913	0.29797	T	0.146226	0.82836	D	0.064	0.18567	0.186	0.09517	0.043077524339	0.03247	0.23454854817078935	0.23369	1.67692670772	0.89933	0.904400348663	0.96913	D	0.017264	0.14114	T	-0.212285	0.19059	T	-0.542709	0.18031	T	0.627328965768835	0.37508	D	0.638236	0.25562	T	0.043644823	0.06838	0.045815594	0.06249	0.043644823	0.06837	0.045815594	0.06249	-5.492	0.41793	T	.	.	0.128	0.27283	B	.;.	.;.	3.768969	0.54128	23.4	0.987138287173006	0.45098	0.01694	0.05394	N	AEFDBI	0.026803	0.02075	N	-0.408917918746889	0.25157	1.363502	-0.592398720921626	0.19690	1.057579	0.312745896474576	0.19304	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.528226	0.09195	0	.	.	3.47	1.06	0.19341	0.096000	0.14986	5.031000	0.46827	0.443000	0.21123	0.000000	0.06391	0.637000	0.25895	0.560000	0.30412	0.0:0.7006:0.1864:0.1129	6.423	0.20955	711	0.56613	.;.	.	.	.	.	.	Uncertain significance	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	772.98	34	chr19	47701799	.	C	T	772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.120e-01;DP=760;ExcessHet=0.0000;FS=4.444;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=-1.011e+00;SOR=0.570	GT:AD:DP:GQ:PL	0/1:41,34:75:99:787,0,1010	20	0	1	0
chr19	47751020	47751020	C	T	exonic	NOP53	.	nonsynonymous SNV	NOP53:NM_015710:exon4:c.C511T:p.R171W,	.	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.169	B	0.046	B	0.000	D	1.000	D	2.475	M	0.84	T	-0.883	T	0.133	T	0.621	2.321	13.72	-1.74	0.029	1.482	10.383	0.235	0.108551957491	.	.	0.0003	0	0	0	0	3.231e-05	0	0.0014	0.00011	17	154602	rs763608461	0.0001	0.0001	4.254e-05	0.0002	0.0014	8.867e-05	8.349e-05	0.0012	0.0011	0	4.761e-05	0	0	0	0.0005	1.537e-05	0.0002	0.0014	1.971e-05	1.97e-05	1.284e-05	2.69e-05	0.0004	5.24e-06	2.45e-06	7.285e-05	3.027e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.002	0.72154	D	0.001	0.83351	D	0.169	0.28678	B	0.031	0.21939	B	0.000370	0.45194	D	0.085120	0.999782	0.49076	D	.	.	.	0.84	0.47477	T	-3.28	0.65627	D	0.595	0.61426	-0.8828	0.49537	T	0.133	0.44484	T	10	0.14286903	0.27132	T	0.108552	0.78514	D	0.235	0.53788	0.682	0.81982	0.625243557465	0.62219	0.5159649392767612	0.51519	0.250448072217	0.27614	0.629627466202	0.57092	T	0.272636	0.64503	T	-0.297797	0.08869	T	-0.23592	0.51196	T	0.311497844038802	0.25476	T	0.79722	0.44094	T	0.20506053	0.42636	0.21713676	0.46368	0.20506053	0.42635	0.21713676	0.46367	-7.199	0.55474	T	.	.	0.132	0.30660	B	.;.	.;.	3.482664	0.48638	22.6	0.99410299020834203	0.63263	0.76950	0.37783	D	AEFDBCI	0.749595	0.69098	D	-0.296943768371378	0.29266	1.621462	-0.305520427179599	0.27920	1.552768	0.0147684066748272	0.12635	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.86	-1.74	0.07622	1.738000	0.37831	0.360000	0.17566	0.599000	0.40250	1.000000	0.71638	0.968000	0.29604	0.667000	0.33166	0.6839:0.3161:0.0:0.0	10.383	0.43304	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	1	0	0	0	0.02381	522.98	34	chr19	47751020	.	C	T	522.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=765;ExcessHet=0.0000;FS=6.153;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=-1.768e+00;SOR=0.383	GT:AD:DP:GQ:PL	0/1:27,21:48:99:537,0,629	20	0	1	0
chr19	48513149	48513149	G	T	exonic	LMTK3	.	nonsynonymous SNV	LMTK3:NM_001080434:exon1:c.C41A:p.A14E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	.	.	.	.	.	.	1.000	N	.	.	-1.06	T	-0.725	T	0.316	T	0.099	1.601	11.31	-0.439	-0.009	1.828	5.381	0.104	0.259803546549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.109	0.37449	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.06	0.76819	T	-0.04	0.07590	N	0.175	0.18784	-0.7247	0.59229	T	0.316	0.68602	T	6	0.12827146	0.24399	T	0.259804	0.89460	D	0.104	0.29647	0.296	0.26041	0.162503812791	0.15892	.	.	.	.	0.476178914309	0.35531	T	.	.	.	-0.128877	0.31679	T	-0.422899	0.30744	T	0.12172662792768	0.14597	T	0.261074	0.04204	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37426	B	.	.	1.479115	0.19040	14.06	0.94343225753593862	0.24685	0.18644	0.20344	N	AEFDGBHCI	0.036541	0.04886	N	-0.562093073166344	0.20107	1.057492	-0.757737564251209	0.15532	0.8173458	0.999915497059066	0.45857	0.455138	0.09556	0	0.609123	0.50646	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	2.94	-0.439	0.11652	1.342000	0.33524	2.910000	0.35502	0.676000	0.76740	0.003000	0.16062	0.539000	0.25405	0.818000	0.38543	0.3997:0.0:0.6003:0.0	5.381	0.15495	952	0.10565	.	.	.	.	.	.	Uncertain significance	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	1342.98	35	chr19	48513149	.	G	T	1342.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.465;DP=815;ExcessHet=0.0000;FS=2.217;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=-1.031e+00;SOR=0.742	GT:AD:DP:GQ:PL	0/1:72,60:132:99:1357,0,1662	20	0	1	0
chr19	48800268	48800268	-	C	exonic	BCAT2	.	frameshift insertion	BCAT2:NM_001164773:exon2:c.53dupG:p.K19Qfs*140	.	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1504.94	40	chr19	48800268	.	G	GC	1504.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.062e+00;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.30;ReadPosRankSum=0.803;SOR=0.751	GT:AD:DP:GQ:PL	0/1:37,50:87:99:1519,0,1058	20	0	1	0
chr19	49154456	49154456	-	CATCAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATGATG:p.D261_V262insDD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,31,0,0:60:99:.:.:1118,0,785,1281,992,2642,1281,992,2642,2642	5	4	8	0
chr19	49154456	49154456	-	CAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATG:p.D261_V262insD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,31,0,0:60:99:.:.:1118,0,785,1281,992,2642,1281,992,2642,2642	5	4	8	0
chr19	49375018	49375018	G	A	exonic	DKKL1	.	nonsynonymous SNV	DKKL1:NM_001197301:exon4:c.G626A:p.R209Q	.	.	425	1089	8	0	0	8	0.00365965	.	.	705156	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.006	B	0.002	B	0.082	N	0.999	N	-0.55	N	2.77	T	-0.934	T	0.004	T	0.094	-1.486	0.018	1.65	0.300	0.646	5.024	0.032	.	0.0054	0.0111821	0.0045	0.0156	0.0058	0	0	0.0045	0.0138	0.0003	0.0042237	653	154602	rs35389403	0.0028	0.0028	0.0028	0.0028	0.0122	0.0027	0.0027	0.0108	0.0105	0.0118	0.0069	0.0432	5.063e-05	0.0002	0.0122	0.0015	0.0081	0.0002	0.0071	0.0071	0.0072	0.0069	0.0131	0.0067	0.0066	0.0122	0.0119	0.0131	0	0.0108	0.0504	0	0	0.0544	0.0022	0.0109	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.002	0.06944	B	0.082476	0.20807	N	0.352414	0.999269	0.21436	N	-0.59	0.02258	N	1.57	0.29342	T	-0.32	0.12283	N	0.031	0.01498	-0.9336	0.43605	T	0.004	0.01365	T	10	0.0026714802	0.00041	T	.	.	.	0.032	0.07718	.	.	0.0138822411134	0.00435	0.03051124166725033	0.03000	0.165292297441	0.18646	0.192946910858	0.00281	T	0.003347	0.25599	T	-0.641296	0.00082	T	-0.682278	0.06846	T	0.00064861538395269	0.00006	T	0.758424	0.38228	T	0.027409965	0.01928	0.03085255	0.01594	0.027409965	0.01928	0.03085255	0.01594	-3.564	0.17338	T	.	.	0.068	0.08465	B	.;.	.;.	0.816049	0.11871	8.437	0.19125495172695153	0.00632	0.02618	0.07200	N	AEFBI	0.043410	0.06858	N	-1.08475150517021	0.06924	0.3201187	-0.92792728919388	0.11436	0.5826139	1.66871643586969E-5	0.02871	0.656854	0.48797	0	0.573888	0.26702	0	0.67347	0.61138	0	0.542086	0.14980	0	.	.	3.74	1.65	0.23015	0.741000	0.25870	2.806000	0.34880	-0.116000	0.14526	0.970000	0.34288	1.000000	0.68203	0.024000	0.12247	0.7378:0.0:0.2622:0.0	5.024	0.13716	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	722.98	38	chr19	49375018	.	G	A	722.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.819;DP=777;ExcessHet=0.0000;FS=5.221;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.03;ReadPosRankSum=-9.230e-01;SOR=1.671	GT:AD:DP:GQ:PL	0/1:13,25:38:99:737,0,326	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|1:65,6:71:56:0|1:54221256_T_C:56,0,2711:54221256	16	0	5	0
chr19	54465172	54465172	C	T	exonic	CDC42EP5	.	nonsynonymous SNV	CDC42EP5:NM_145057:exon3:c.G376A:p.G126R,	.	.	416	1098	8	0	0	8	0.00362976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.178	B	0.014	B	0.450	N	1.000	N	0.92	L	1.55	T	-1.027	T	0.031	T	0.152	2.383	13.93	1.86	0.560	-0.004	8.383	0.030	.	0.0038	0.00199681	0.0218	0.0065	0.0034	0.0024	0.0145	0.0348	0	0.0127	0.0030983	479	154602	rs10017	0.0067	0.0063	0.0066	0.0068	0.0076	0.0066	0.0065	0.0074	0.0074	0.0013	0.0018	0.0017	0.0002	0.0038	0.0030	0.0076	0.0046	0.0033	0.0048	0.0048	0.0048	0.0048	0.0078	0.0045	0.0044	0.0073	0.0071	0.0011	0.0395	0.0018	0.0009	0.0004	0.0054	0	0.0078	0.0043	0.0027	0.171	0.22746	T	0.397	0.15157	T	0.178	0.28960	B	0.014	0.16862	B	0.450446	0.12514	N	0.537116	1	0.08975	N	0.895	0.22405	L	1.55	0.29866	T	-0.99	0.26200	N	0.109	0.09490	-1.0272	0.21363	T	0.031	0.13374	T	10	0.0034463108	0.00061	T	.	.	.	0.030	0.07022	0.092	0.01108	0.296679040009	0.29266	0.1285259735343302	0.12777	1.02830112022	0.75345	0.689349770546	0.65613	T	0.020879	0.16359	T	-0.607722	0.00131	T	-0.634051	0.10108	T	0.0040330792534865	0.00043	T	.	.	.	0.042727932	0.06534	0.05883738	0.10942	0.042727932	0.06533	0.05883738	0.10941	-3.033	0.10541	T	.	.	0.102	0.18164	B	.	.	1.745182	0.22204	15.52	0.95941256769208927	0.28244	0.15801	0.19088	N	ALL	0.070652	0.14034	N	-0.946644691586346	0.09768	0.4637701	-1.00009656266121	0.09784	0.4887702	0.9999999999677	0.74766	0.489673	0.17934	0	0.166054	0.03914	2	0.64067	0.45733	0	0.662433	0.64102	0	.	.	2.97	1.86	0.24489	0.603000	0.23848	.	.	0.592000	0.32167	0.001000	0.13787	0.026000	0.21063	0.006000	0.07323	0.0:0.8737:0.0:0.1263	8.383	0.31642	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	769.98	35	chr19	54465172	.	C	T	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.350;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-7.110e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/1:24,33:57:99:784,0,489	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|1:327,123,0:450:99:0|1:54633108_T_G:4181,0,13210,5165,13580,18745:54633108	1	0	19	0
chr19	54667735	54667735	G	A	exonic	LILRB4	.	nonsynonymous SNV	LILRB4:NM_001278429:exon10:c.G1232A:p.G411E	.	.	42	1368	112	0	0	112	0.0393258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.002	B	0.001	B	.	.	1.000	N	0.345	N	7.23	T	-1.031	T	0.001	T	0.264	-1.151	0.102	-2.07	-0.416	-1.874	7.181	0.017	.	.	0.00938498	0.0029	0.0131	0.0016	0.0003	0.0008	0.0027	0	0.0008	0.0018057	47	26028	rs143761941	0.0002	0.0077	0.0002	0.0002	0.0019	0.0002	0.0002	0.0015	0.0014	0.0019	6.756e-05	3.887e-05	0	0.0019	0.0005	7.91e-05	6.767e-05	9.397e-05	0.0011	0.0063	0.0009	0.0013	0.0023	0.0009	0.0009	0.0019	0.0018	0.0023	0	0.0007	0.0006	0	0.0008	0	0.0006	0.0020	0.0006	0.817	0.08534	T	0.485	0.14284	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	7.22	0.00450	T	-1.14	0.33197	N	0.082	0.06587	-1.0309	0.20163	T	0.001	0.00222	T	9	0.0048834085	0.00104	T	.	.	.	0.017	0.02790	.	.	0.0611884634855	0.05136	0.025520150562575675	0.02503	0.0146181732997	0.01385	0.27307882905	0.06546	T	0.024122	0.18284	T	-0.312001	0.07572	T	-0.685945	0.06627	T	0.00416992427023374	0.00044	T	0.40156	0.13085	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.02548	B	.;.;.;.	.;.;.;.	-1.426860	0.00341	0.006	0.34032084928210377	0.02060	0.00201	0.01154	N	AEFBI	0.057374	0.10682	N	-1.73416465629474	0.00727	0.0314143	-1.78646037534142	0.00803	0.03586342	6.83957052779704E-4	0.07622	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.36	-2.07	0.06873	-2.169000	0.01355	.	.	-2.327000	0.00315	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2899:0.0:0.7101:0.0	7.181	0.24951	814	0.42100	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	116.98	34	chr19	54667735	.	G	A	116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.960e+00;DP=1419;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.27;MQRankSum=-1.020e+01;QD=1.03;ReadPosRankSum=0.093;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,11:114:99:0|1:54667733_T_C:131,0,4231:54667733	20	0	1	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T	.	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	2.195	M	7.25	T	-0.797	T	0.003	T	0.159	-2.076	0.006	-0.836	-3.588	-0.374	0.314	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	11817.48	33	chr19	54739533	.	C	A	11817.48	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.378e+00;DP=7438;ExcessHet=20.9642;FS=1.551;InbreedingCoeff=-0.6399;MLEAC=16;MLEAF=0.400;MQ=55.59;MQRankSum=1.01;QD=1.92;ReadPosRankSum=1.26;SOR=0.542	GT:AD:DP:GQ:PL	0/1:343,56:399:99:376,0,11309	4	0	16	1
chr19	54742019	54742019	C	T	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon3:c.C110T:p.P37L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.181	B	0.069	B	.	.	1.000	N	2.52	M	5.76	T	-1.016	T	0.017	T	0.347	0.259	5.400	0.507	0.253	1.801	5.886	0.076	0.00102173653182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.394e-07	7.092e-07	0	1.485e-06	2.396e-05	0	0	.	.	0	2.396e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.181	0.29111	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	2.56	0.74772	M	3.95	0.03382	T	-6.54	0.91786	D	0.223	0.25006	-1.0164	0.24884	T	0.017	0.06807	T	9	0.12389034	0.23525	T	0.001022	0.01120	T	0.076	0.22200	0.37	0.38013	0.335164054921	0.33125	0.19209035572317168	0.19127	1.791941562	0.91524	.	.	.	0.020233	0.15966	T	-0.175002	0.24481	T	-0.489154	0.23479	T	0.20912588440861	0.20907	T	.	.	.	0.17275815	0.37985	0.1681736	0.38757	0.17275815	0.37985	0.1681736	0.38756	-8.822	0.66544	D	.	.	0.125	0.26514	B	.	.	1.590162	0.20337	14.70	0.57320471306848364	0.05743	0.01560	0.05104	N	AEFI	0.030433	0.03063	N	-1.06537834965913	0.07289	0.338164	-1.21954413589658	0.05596	0.2670848	1.74798417143001E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.6	0.507	0.16168	1.859000	0.39058	.	.	0.303000	0.18983	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.6648:0.3352:0.0	5.886	0.18127	964	0.07719	Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	38391.65	39	chr19	54742019	.	C	G,T	38391.65	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-4.248e+00;DP=5023;ExcessHet=10.5502;FS=2.011;InbreedingCoeff=-0.4135;MLEAC=15,1;MLEAF=0.357,0.024;MQ=49.81;MQRankSum=0.016;QD=8.38;ReadPosRankSum=0.547;SOR=0.509	GT:AD:DP:GQ:PL	0/1:192,111,0:303:99:2556,0,5864,3133,6197,9330	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	0/1:218,74:292:99:1092,0,6100	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	0/1:266,68:334:99:1715,0,7602	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|1:276,62:338:99:0|1:54752445_C_T:1732,0,11236:54752445	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|1:292,32:324:99:0|1:54752482_T_C:465,0,12128:54752482	7	2	11	1
chr19	54760659	54760659	G	A	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	417	909	196	0	0	196	0.0973188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs57865271	1.259e-05	2.057e-05	1.532e-05	9.832e-06	3.033e-05	7.87e-06	6.49e-06	3.9e-06	2.82e-06	3.033e-05	2.283e-05	0	0	0	0	8.284e-06	0.0001	1.176e-05	4.775e-05	8.644e-05	3.992e-05	5.599e-05	0.0003	2.182e-05	1.574e-05	9.529e-05	5.69e-05	2.488e-05	0	0.0003	0	0	0	0	3.045e-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	0.119	5323.44	37	chr19	54760659	.	G	A	5323.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-3.612e+00;DP=4063;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=53.72;MQRankSum=-6.027e+00;QD=3.24;ReadPosRankSum=-3.710e-01;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:311,23:334:30:0|1:54760643_A_G:30,0,12990:54760643	16	0	5	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|1:305,24:329:90:0|1:54760643_A_G:90,0,12735:54760643	7	0	14	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15285.48	37	chr19	54760676	.	T	A	15285.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.658e+00;DP=4024;ExcessHet=14.4320;FS=0.732;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=55.58;MQRankSum=-9.713e+00;QD=4.21;ReadPosRankSum=2.84;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:298,24:322:99:0|1:54760643_A_G:111,0,12441:54760643	7	0	14	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15714.52	37	chr19	54760692	.	A	G	15714.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.369e+00;DP=3836;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.22;MQRankSum=-1.158e+01;QD=4.47;ReadPosRankSum=4.04;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:275,24:299:99:0|1:54760643_A_G:180,0,11455:54760643	7	0	14	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15927.52	37	chr19	54760695	.	T	C	15927.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.378e+00;DP=3798;ExcessHet=14.4320;FS=0.728;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.26;MQRankSum=-1.138e+01;QD=4.62;ReadPosRankSum=4.12;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,24:295:99:0|1:54760643_A_G:192,0,11280:54760643	7	0	14	0
chr19	54767353	54767353	A	0	exonic	KIR2DL1;LOC112267881	.	.	.	.	.	444	526	404	111	37	663	0.373063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	59730.09	38	chr19	54767353	.	A	C,*	59730.09	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=-1.860e+00;DP=4843;ExcessHet=0.1361;FS=0.529;InbreedingCoeff=0.2741;MLEAC=13,2;MLEAF=0.310,0.048;MQ=58.91;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.166;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:287,223,0:510:99:.:.:5190,0,7558,6538,8759,17975	10	4	5	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K	.	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.005	B	0.011	B	.	.	1.000	N	0.255	N	5.79	T	-0.943	T	0.002	T	0.052	-1.471	0.018	-2.83	-0.914	-2.611	4.378	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3332.55	37	chr19	54804956	.	C	G	3332.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.553;DP=3253;ExcessHet=2.5830;FS=4.420;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.57;MQRankSum=-1.550e+01;QD=1.97;ReadPosRankSum=-2.461e+00;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:251,20:271:84:0|1:54804956_C_G:84,0,10428:54804956	14	0	7	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I	.	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.988	D	0.749	P	.	.	1.000	N	2.795	M	5.26	T	-1.036	T	0.009	T	0.293	1.165	9.742	-2.83	-1.100	0.423	0.084	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3498.55	37	chr19	54804960	.	T	A	3498.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.890e-01;DP=3264;ExcessHet=2.5830;FS=5.763;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.64;MQRankSum=-1.493e+01;QD=2.04;ReadPosRankSum=-2.172e+00;SOR=1.354	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:252,20:272:81:0|1:54804956_C_G:81,0,10521:54804956	14	0	7	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M	.	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.687	P	0.812	P	.	.	1.000	N	-0.13	N	5.18	T	-0.933	T	0.004	T	0.218	-0.371	2.254	-2.83	-2.207	-1.190	4.771	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3900.55	37	chr19	54804968	.	T	G	3900.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.04;DP=3302;ExcessHet=2.5830;FS=5.736;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.65;MQRankSum=-1.402e+01;QD=2.23;ReadPosRankSum=-2.200e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,24:278:99:0|1:54804956_C_G:232,0,10583:54804956	14	0	7	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G	.	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.004	B	.	.	1.000	N	-1.605	N	2.6	T	-0.984	T	0.007	T	0.077	-2.734	0	-2.83	-1.548	-0.075	7.112	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3886.55	37	chr19	54804969	.	A	G	3886.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-3.400e-01;DP=3301;ExcessHet=2.5830;FS=5.736;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.65;MQRankSum=-1.405e+01;QD=2.23;ReadPosRankSum=-2.321e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,24:278:99:0|1:54804956_C_G:232,0,10583:54804956	14	0	7	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S	.	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.008	B	.	.	1.000	N	-1.335	N	5.92	T	-0.965	T	0.001	T	0.053	-2.647	0	-2.83	-1.271	-4.121	6.440	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	8919.01	37	chr19	54805015	.	T	C	8919.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.270e-01;DP=3894;ExcessHet=4.7172;FS=2.661;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.185e+01;QD=3.49;ReadPosRankSum=0.485;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:291,43:334:99:0|1:54805010_A_G:930,0,12065:54805010	12	0	9	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L	.	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.542	P	0.333	B	.	.	1.000	N	1.725	L	5.83	T	-0.970	T	0.003	T	0.121	1.105	9.508	-2.7	-0.974	-0.428	2.255	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	8818.01	37	chr19	54805016	.	T	A	8818.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-7.130e-01;DP=3903;ExcessHet=4.7172;FS=3.895;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.197e+01;QD=3.42;ReadPosRankSum=0.322;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:291,43:334:99:0|1:54805010_A_G:930,0,12087:54805010	12	0	9	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R	.	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.025	B	0.014	B	0.900	U	1.000	N	1.445	L	5.78	T	-0.926	T	0.003	T	0.132	0.330	5.790	-0.942	-0.378	-0.780	4.279	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2381	10370.19	37	chr19	54805024	.	A	G	10370.19	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-4.070e-01;DP=4027;ExcessHet=6.1002;FS=3.749;InbreedingCoeff=-0.2989;MLEAC=9;MLEAF=0.214;MQ=59.11;MQRankSum=-1.124e+01;QD=3.60;ReadPosRankSum=0.390;SOR=1.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,46:324:99:0|1:54805010_A_G:1095,0,11528:54805010	11	0	10	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I	.	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.004	B	0.005	B	0.591	U	1.000	N	1.77	L	2.55	T	-0.987	T	0.033	T	0.099	-0.227	2.901	-2.28	-1.442	-2.050	6.335	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	11569.11	37	chr19	54805033	.	C	T	11569.11	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.870e-01;DP=4523;ExcessHet=9.6308;FS=5.420;InbreedingCoeff=-0.4114;MLEAC=12;MLEAF=0.286;MQ=59.15;MQRankSum=-1.246e+01;QD=3.36;ReadPosRankSum=-4.370e-01;SOR=1.113	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,49:334:99:0|1:54805010_A_G:1183,0,11514:54805010	9	0	12	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V	.	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.011	B	0.009	B	0.168	N	1.000	N	0.08	N	2.74	T	-1.017	T	0.015	T	0.072	-2.393	0.003	-0.275	-0.112	-0.220	3.173	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3421	12807.67	37	chr19	54805068	.	A	G	12807.67	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.640e+00;DP=4275;ExcessHet=11.8493;FS=4.752;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.368;MQ=58.95;MQRankSum=-1.149e+01;QD=3.70;ReadPosRankSum=0.620;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,62:312:99:0|1:54805068_A_G:1790,0,9969:54805068	6	0	13	2
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F	.	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.198	B	0.327	B	.	.	1.000	N	2.125	M	5.76	T	-0.946	T	0.005	T	0.221	0.808	8.245	-0.172	-0.120	0.024	3.728	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	9084.15	108	chr19	54805957	.	A	T	9084.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=5.15;DP=4262;ExcessHet=11.8493;FS=0.848;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.77;MQRankSum=-1.667e+01;QD=2.69;ReadPosRankSum=1.69;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:260,35:295:99:0|1:54805940_TCTC_T:687,0,10812:54805940	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|1:267,38:305:99:0|1:54805940_TCTC_T:792,0,11097:54805940	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|1:289,55:344:99:0|1:54805940_TCTC_T:1440,0,11970:54805940	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|1:295,67:362:99:0|1:54805940_TCTC_T:1865,0,12127:54805940	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|1:351,87:438:99:0|1:54806034_C_A:2597,0,14448:54806034	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|1:355,87:442:99:0|1:54806034_C_A:2585,0,14616:54806034	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|1:372,82:454:99:0|1:54806034_C_A:2323,0,15373:54806034	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|1:374,82:456:99:0|1:54806034_C_A:2317,0,15457:54806034	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|1:369,82:451:99:0|1:54806034_C_A:2332,0,15247:54806034	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|1:366,81:447:99:0|1:54806034_C_A:2299,0,15124:54806034	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|1:368,69:437:99:0|1:54806034_C_A:1790,0,15245:54806034	6	0	15	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D	.	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.012	B	0.024	B	0.006	U	1.000	N	0.765	N	2.53	T	-0.990	T	0.026	T	0.033	-0.167	3.186	-0.795	-0.445	-1.162	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	9512.01	292	chr19	54806112	.	A	G	9512.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.490e-01;DP=7263;ExcessHet=4.7172;FS=5.109;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.76;MQRankSum=-1.587e+01;QD=2.63;ReadPosRankSum=-2.764e+00;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:368,64:432:99:0|1:54806034_C_A:1580,0,15260:54806034	12	0	9	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|1:337,63:400:99:0|1:54808838_C_T:1631,0,13767:54808838	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|1:346,71:417:99:0|1:54808838_C_T:1940,0,14283:54808838	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|1:346,73:419:99:0|1:54808838_C_T:2024,0,14277:54808838	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	0/1:350,79:429:99:2267,0,9743	7	0	14	0
chr19	54837615	54837615	A	C	exonic	KIR2DS4	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon3:c.A110C:p.H37P	.	.	497	1014	4	7	0	18	0.00879765	.	.	3393472	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0005	0	0	0.0002	0	0.0002	0	0.0035	0.0004075	63	154602	rs1143507	0.0003	0.0078	0.0002	0.0004	0.0032	0.0003	0.0003	0.0029	0.0028	6.182e-05	9.708e-05	0.0002	0.0001	0.0001	0.0007	0.0001	0.0004	0.0032	0.0006	0.0074	0.0005	0.0006	0.0035	0.0005	0.0004	0.0020	0.0016	0.0009	0	0.0005	0.0007	0	0.0002	0	0.0003	0	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.025	3992.33	39	chr19	54837615	.	A	C	3992.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.45;DP=1518;ExcessHet=0.0000;FS=3.142;InbreedingCoeff=0.3000;MLEAC=1;MLEAF=0.025;MQ=59.65;MQRankSum=-1.800e+00;QD=12.59;ReadPosRankSum=0.109;SOR=0.895	GT:AD:DP:GQ:PL	0/1:168,149:317:99:4006,0,4464	19	0	1	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	0/1:320,104,0:424:99:.:.:1776,0,10226,2737,10538,13275	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|1:301,30:331:99:0|1:54855608_TCTC_T:354,0,12549:54855608	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|1:302,29:331:99:0|1:54855608_TCTC_T:309,0,12544:54855608	6	0	15	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|1:196,61:257:99:0|1:54865794_T_C:1971,0,8046:54865794	7	0	14	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I	.	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.259	B	0.269	B	.	.	1.000	N	0.7	N	7.31	T	-0.975	T	0.001	T	0.028	-1.590	0.014	-1.58	-0.698	-0.374	3.986	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.35	30212.51	90	chr19	54865825	.	G	A	30212.51	.	AC=14;AF=0.350;AN=40;BaseQRankSum=0.417;DP=3951;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=58.36;MQRankSum=-1.018e+01;QD=8.39;ReadPosRankSum=2.06;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:215,59:274:99:.:.:913,0,8810	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|1:225,60:285:99:0|1:54865794_T_C:1842,0,9267:54865794	7	0	14	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I	.	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.521	N	1.000	N	-2.6	N	7.41	T	-0.951	T	0.000	T	0.186	-2.169	0.005	-0.556	-1.246	-2.075	1.833	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	28126.08	90	chr19	54865852	.	T	A	28126.08	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.146e+00;DP=3964;ExcessHet=11.8493;FS=0.602;InbreedingCoeff=-0.4757;MLEAC=13;MLEAF=0.325;MQ=58.29;MQRankSum=-1.050e+01;QD=8.38;ReadPosRankSum=0.494;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:226,59:285:99:0|1:54865794_T_C:1797,0,9312:54865794	7	0	13	1
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I	.	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.01	B	0.021	B	0.026	N	1.000	N	-0.145	N	7.01	T	-0.867	T	0.001	T	0.124	-3.306	0.001	-1.51	-3.388	-1.355	6.404	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	26881.91	90	chr19	54865864	.	C	A	26881.91	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.450e-01;DP=3884;ExcessHet=11.8493;FS=0.608;InbreedingCoeff=-0.4745;MLEAC=13;MLEAF=0.325;MQ=58.33;MQRankSum=-9.748e+00;QD=8.20;ReadPosRankSum=-7.570e-01;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,54:275:99:0|1:54865794_T_C:1602,0,9117:54865794	7	0	13	1
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F	.	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.999	D	0.997	D	0.959	U	1.000	N	1.445	L	6.74	T	-0.940	T	0.004	T	0.25	0.087	4.467	-1.58	-0.826	-0.444	2.405	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	26642.8	90	chr19	54865870	.	C	T	26642.8	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.75;DP=3832;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=58.31;MQRankSum=-9.500e+00;QD=8.27;ReadPosRankSum=-1.440e+00;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:220,52:272:99:0|1:54865794_T_C:1521,0,9081:54865794	7	0	13	1
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H	.	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.008	B	0.001	N	1.000	N	-2.525	N	7.27	T	-0.904	T	0.000	T	0.061	-2.893	0.001	-0.356	-0.649	-0.514	4.953	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	23642.28	90	chr19	54865885	.	T	C	23642.28	.	AC=13;AF=0.325;AN=40;BaseQRankSum=3.17;DP=3617;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4940;MLEAC=14;MLEAF=0.350;MQ=58.28;MQRankSum=-9.078e+00;QD=7.87;ReadPosRankSum=-1.919e+00;SOR=0.730	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:213,45:258:99:0|1:54865794_T_C:1248,0,8808:54865794	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|1:206,40:246:99:0|1:54865794_T_C:1060,0,8525:54865794	7	0	13	1
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C	.	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.005	U	1.000	N	2.56	M	7.16	T	-0.938	T	0.005	T	0.423	0.755	7.999	0.792	0.706	0.774	4.875	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	21734.24	90	chr19	54865893	.	G	C	21734.24	.	AC=13;AF=0.325;AN=40;BaseQRankSum=2.60;DP=3482;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4768;MLEAC=13;MLEAF=0.325;MQ=58.20;MQRankSum=-8.978e+00;QD=7.60;ReadPosRankSum=-2.084e+00;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,39:240:99:0|1:54865794_T_C:1033,0,8251:54865794	7	0	13	1
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E	.	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	.	.	1.000	N	-1.735	N	7.23	T	-0.988	T	0.000	T	0.038	-2.832	0	-1.86	-0.450	0.343	6.644	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	15435.48	140	chr19	54866420	.	C	G	15435.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-3.889e+00;DP=4431;ExcessHet=14.4320;FS=9.928;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.11;MQRankSum=-1.691e+01;QD=3.94;ReadPosRankSum=1.08;SOR=0.395	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:269,22:291:99:0|1:54866416_T_C:114,0,11168:54866416	7	0	14	0
chr19	54939978	54939978	C	T	exonic	NLRP7	.	nonsynonymous SNV	NLRP7:NM_001127255:exon4:c.G841A:p.V281I	Hydatidiform mole, recurrent, 1, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	3359084	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.999	D	0.987	D	.	.	1.000	N	1.465	L	-1.18	T	-0.598	T	0.435	T	0.068	2.245	13.46	-1.77	-0.416	-1.779	5.031	0.249	0.0432709508896	.	.	3.297e-05	0	0	0	0	4.499e-05	0	6.056e-05	2.59e-05	4	154602	rs777452729	1.642e-05	1.642e-05	1.089e-05	2.2e-05	0.0003	1.111e-05	9.33e-06	6.092e-05	2.521e-05	0	0	0	2.519e-05	0	0.0003	1.349e-05	1.656e-05	5.797e-05	2.629e-05	2.627e-05	2.57e-05	2.69e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.41e-05	0	0	0.046	0.40573	D	0.013	0.63109	D	0.999	0.77913	D	0.987	0.77487	D	.	.	.	.	1	0.08975	N	2.09	0.57893	M	-1.18	0.78314	T	-0.33	0.13226	N	0.039	0.03175	-0.5976	0.64915	T	0.435	0.77529	T	9	0.2350061	0.40552	T	0.043271	0.60900	D	0.249	0.55752	.	.	0.243398259712	0.23965	0.09100765771421815	0.09033	0.492373565229	0.47883	0.300501644611	0.10475	T	0.043472	0.26512	T	-0.264434	0.12385	T	-0.509961	0.21319	T	0.106109854981384	0.13017	T	.	.	.	0.058581635	0.11802	0.045643587	0.06186	0.058581635	0.11801	0.045643587	0.06186	-5.341	0.40347	T	.	.	0.098	0.17995	B	.;.;.;.;.	.;.;.;.;.	0.867749	0.12404	8.940	0.99525732802700628	0.69530	0.01128	0.04105	N	AEFDBI	0.045700	0.07504	N	-0.590310763946279	0.19237	1.005285	-0.900872471822082	0.12074	0.6189486	0.00555459171909539	0.10975	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	1.76	-1.77	0.07551	-1.612000	0.02163	.	.	0.445000	0.21165	0.000000	0.06391	0.000000	0.08366	0.082000	0.17360	0.0:0.4442:0.0:0.5558	5.031	0.13752	912	0.21483	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;.;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;.;.	.	.	.	.	.	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	2762.98	144	chr19	54939978	.	C	T	2762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=1991;ExcessHet=0.0000;FS=1.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.62;ReadPosRankSum=0.741;SOR=0.547	GT:AD:DP:GQ:PL	0/1:89,100:189:99:2777,0,2221	20	0	1	0
chr19	54983043	54983043	A	G	exonic	NLRP2	.	nonsynonymous SNV	NLRP2:NM_001174082:exon5:c.A1279G:p.T427A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.001	B	0.222	N	1.000	N	-1.665	N	-0.7	T	-0.997	T	0.086	T	0.054	-1.651	0.012	-3.8	-0.834	0.047	3.143	0.052	0.0122421523417	.	.	9.307e-06	0	0	0	0	0	0	6.231e-05	.	.	.	rs767423134	1.371e-06	1.368e-06	0	2.756e-06	1.161e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.999e-07	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.835	0.02847	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.04355	B	0.221626	0.03458	N	1.858690	1	0.08975	N	-1.75	0.00322	N	-0.76	0.73845	T	0.56	0.02680	N	0.022	0.00372	-0.9974	0.30646	T	0.086	0.33326	T	10	0.07065436	0.10307	T	0.012242	0.30635	T	0.052	0.14661	0.494	0.58206	0.384584525793	0.38071	0.08738513201450707	0.08671	0.0444259073386	0.04792	0.491926670074	0.37705	T	0.006126	0.05569	T	-0.366191	0.03792	T	-0.663155	0.08055	T	0.0189809431935228	0.00607	T	.	.	.	0.022705633	0.00953	0.021025894	0.00169	0.022705633	0.00953	0.021025894	0.00169	-1.442	0.01649	T	.	.	0.066	0.02285	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.758342	0.01191	0.058	0.15255098551197316	0.00366	0.00364	0.01860	N	AEFDBI	0.022646	0.01158	N	-1.92782626551371	0.00301	0.01291103	-1.93407639591379	0.00419	0.01851287	6.73308934708074E-5	0.04366	0.615465	0.37627	0	0.633656	0.55848	0	0.563428	0.18855	0	0.567892	0.33627	0	.	.	1.9	-3.8	0.04025	-0.928000	0.04088	.	.	-1.055000	0.01629	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2476:0.0:0.4081:0.3443	3.143	0.06075	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	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	2017.98	40	chr19	54983043	.	A	G	2017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.437e+00;DP=1999;ExcessHet=0.0000;FS=1.769;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.20;MQRankSum=0.318;QD=10.24;ReadPosRankSum=-1.367e+00;SOR=0.855	GT:AD:DP:GQ:PL	0/1:111,86:197:99:2032,0,2930	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	1/1:0,81,0:81:99:.:.:3645,253,0,3645,253,3645	0	18	2	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1530.14	99	chr19	55358535	.	T	*,C	1530.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2199;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.88;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,81,0:81:99:.:.:3645,253,0,3645,253,3645	0	18	2	0
chr19	55486564	55486564	G	C	exonic	NAT14	.	nonsynonymous SNV	NAT14:NM_020378:exon3:c.G229C:p.V77L,	.	.	406	1113	3	0	0	3	0.0013459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.0	B	0.002	N	0.909	N	-1.15	N	.	.	-0.995	T	0.017	T	0.054	-0.709	0.942	-0.405	0.200	0.162	3.592	0.043	0.0164794337621	.	.	3.539e-05	0	0	0	0	3.272e-05	0.0026	0	1.29e-05	2	154602	rs561771561	5.583e-06	6.156e-06	6.942e-06	4.21e-06	0.0002	2.4e-06	1.74e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.521e-06	3.357e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002077	0.37317	N	0.176912	0.90865	0.27554	N	-1.735	0.00332	N	.	.	.	0.99	0.01428	N	0.038	0.01203	-0.9945	0.31432	T	0.017	0.06855	T	9	0.019770592	0.00446	T	0.016479	0.37757	T	0.043	0.11576	0.246	0.18139	0.134241683229	0.13084	0.47360274471038727	0.47279	0.272789235297	0.29784	0.803345799446	0.82474	D	0.003902	0.03313	T	-0.33156	0.05994	T	-0.714039	0.05089	T	0.0235461437271733	0.01088	T	0.528747	0.17479	T	0.03382459	0.03677	0.027829427	0.00966	0.03382459	0.03677	0.027829427	0.00966	-2.574	0.06308	T	.	.	0.092	0.13409	B	.	.	-0.657482	0.01423	0.084	0.69957871779934611	0.09139	0.02703	0.07351	N	AEFDBHCI	0.056389	0.10421	N	-1.12802719416376	0.06149	0.2822918	-1.02850573763821	0.09161	0.4542422	0.999994903284081	0.74766	0.741868	0.97996	0	0.550933	0.16991	0	0.774882	0.98623	0	0.372554	0.06265	0	.	.	3.41	-0.405	0.11775	-0.347000	0.07799	0.017000	0.13531	-0.165000	0.11486	0.001000	0.13787	0.000000	0.08366	0.211000	0.22211	0.3278:0.3474:0.3248:0.0	3.592	0.07541	970	0.06235	GNAT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2042.08	36	chr19	55486564	.	G	C	2042.08	.	AC=2;AF=0.048;AN=42;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.60;SOR=1.131	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2070,207,0	20	1	0	0
chr20	1181366	1181366	G	T	exonic	TMEM74B	.	nonsynonymous SNV	TMEM74B:NM_001304749:exon2:c.C181A:p.P61T	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.055	B	0.02	B	0.063	N	0.994	N	1.59	L	0.93	T	-1.049	T	0.074	T	0.186	-0.055	3.731	1.04	0.446	0.426	3.342	0.032	0.00924022937466	0.0002	.	6.327e-05	0	0	0	0	7.826e-05	0.0013	0.0001	5.17e-05	8	154602	rs377008201	3.348e-05	3.283e-05	3.647e-05	3.04e-05	0.0004	2.58e-05	2.312e-05	8.513e-05	6.022e-05	0	0.0002	0	0	0	0.0004	3.053e-05	5.194e-05	2.603e-05	5.913e-05	5.909e-05	3.852e-05	8.071e-05	0.0001	3.077e-05	2.21e-05	3.761e-05	2.574e-05	0	0	0.0001	0	0	0	0.0032	8.818e-05	0	0	0.029	0.54683	D	0.05	0.48855	T	0.055	0.22733	B	0.02	0.19048	B	0.062595	0.22087	N	0.327872	0.994412	0.23523	N	0.345	0.11182	N	0.93	0.46412	T	-1.64	0.49519	N	0.219	0.24510	-1.0487	0.14761	T	0.074	0.29802	T	10	0.0684503	0.09681	T	0.00924	0.24272	T	0.032	0.07718	.	.	0.101711395817	0.09552	0.4424026483572134	0.44157	0.0831964405171	0.09381	0.324615240097	0.14120	T	0.062931	0.32044	T	-0.355348	0.04400	T	-0.545555	0.17754	T	0.0244512506327522	0.01202	T	0.654835	0.32034	T	0.052346006	0.09748	0.05578219	0.09847	0.052346006	0.09748	0.05578219	0.09846	-4.814	0.34754	T	.	.	0.070	0.04041	B	.;.	.;.	1.060856	0.14425	11.00	0.94774523189524951	0.25497	0.40240	0.26392	N	AEFDBI	0.110407	0.21895	N	-0.63145175632421	0.18004	0.9312869	-0.647076905332657	0.18291	0.9764467	7.41957588823626E-4	0.07741	0.646311	0.45356	0	0.514364	0.08380	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.29	1.04	0.19220	0.438000	0.21277	2.246000	0.31650	0.676000	0.76740	0.086000	0.22486	1.000000	0.68203	0.086000	0.17578	0.3592:0.2045:0.4363:0.0	3.342	0.06704	915	0.20917	.;.	.	.	.	.	.	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	2544.98	35	chr20	1181366	.	G	T	2544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.13;DP=898;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-1.797e+00;SOR=0.710	GT:AD:DP:GQ:PL	0/1:100,91:191:99:2559,0,2631	20	0	1	0
chr20	2432517	2432517	G	C	exonic	TGM6	.	nonsynonymous SNV	TGM6:NM_001254734:exon12:c.G1861C:p.G621R	Spinocerebellar ataxia 35, Autosomal dominant	.	4	1470	45	3	0	51	0.0170512	.	.	349763	not_provided|not_specified|Spinocerebellar_ataxia_type_35	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013485,MedGen:C3888031,OMIM:613908,Orphanet:276193	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.19	T	0.101	B	0.089	B	0.169	N	1.000	N	1.795	L	-0.19	T	-0.918	T	0.184	T	0.288	0.848	8.426	1.86	0.342	-0.028	6.860	0.033	.	0.0016	0.00139776	0.0032	0.0004	0.0013	0.0001	0.0002	0.0025	0.0011	0.0117	0.0028137	435	154602	rs138807504	0.0019	0.0019	0.0015	0.0023	0.0124	0.0018	0.0018	0.0118	0.0115	0.0002	0.0018	0.0147	2.519e-05	5.616e-05	0.0097	0.0008	0.0034	0.0124	0.0016	0.0016	0.0016	0.0017	0.0099	0.0015	0.0014	0.0077	0.0069	0.0002	0	0.0022	0.0159	0.0002	0	0.0068	0.0014	0.0047	0.0099	0.017	0.51248	D	0.166	0.30828	T	0.101	0.25775	B	0.089	0.29769	B	0.169227	0.17425	N	0.634407	0.999952	0.19072	N	.	.	.	-0.19	0.65931	T	-2.66	0.56945	D	0.107	0.09207	-0.9185	0.45756	T	0.184	0.53300	T	10	0.0043498874	0.00088	T	.	.	.	0.033	0.08068	0.346	0.34112	0.327686398923	0.32377	0.2536032118238763	0.25274	0.108388790355	0.12225	0.329630196095	0.14878	T	0.028211	0.20489	T	-0.297241	0.08923	T	-0.189354	0.55651	T	0.0096409445773623	0.00125	T	0.587141	0.21465	T	0.2186705	0.44381	0.16745007	0.38630	0.1864944	0.40060	0.14031756	0.33450	-3.88	0.22002	T	0.09196841842984388	0.05891	0.146	0.32178	B	.	.	0.885631	0.12589	9.117	0.82264938501959017	0.14103	0.10581	0.16048	N	AEFBI	0.094015	0.19016	N	-0.67969589964495	0.16601	0.8472733	-0.664644720180829	0.17848	0.9508148	1.9370839959032E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.87	1.86	0.24489	-0.061000	0.11650	0.546000	0.19377	-0.127000	0.13314	0.004000	0.16614	0.043000	0.21642	0.612000	0.31691	0.2898:0.0:0.7102:0.0	6.860	0.23241	818	0.41518	Transglutaminase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	2513.11	101	chr20	2432517	.	G	C	2513.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.041e+00;DP=1489;ExcessHet=0.1072;FS=0.509;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=0.390;SOR=0.766	GT:AD:DP:GQ:PL	0/1:55,52:107:99:1269,0,1496	19	0	2	0
chr20	2749404	2749404	G	A	exonic	EBF4	.	nonsynonymous SNV	EBF4:NM_001110514:exon9:c.G631A:p.V211M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.926	D	0.001	D	1.000	D	2.585	M	0.67	T	-0.357	T	0.296	T	0.626	4.436	23.6	4.04	2.263	7.507	14.053	0.259	0.0637723009161	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1459748633	3.617e-06	4.788e-06	2.846e-06	4.415e-06	4.675e-06	1.06e-06	7.7e-07	1.37e-06	1e-06	0	0	0	0	0	0	4.675e-06	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.01	0.67890	D	0.997	0.70673	D	0.926	0.66095	D	0.000633	0.42799	D	0.000000	0.999986	0.54805	D	2.36	0.67893	M	0.67	0.52187	T	-2.47	0.53898	N	0.636	0.65844	-0.3575	0.73336	T	0.296	0.66745	T	10	0.6154039	0.67677	D	0.063772	0.69072	D	0.259	0.57090	0.444	0.50139	0.918048739934	0.91722	0.5625358511668459	0.56180	1.58769996797	0.88476	0.846562147141	0.89094	D	0.159456	0.62727	T	0.0612173	0.59765	T	-0.149842	0.59257	T	0.904074788093567	0.55744	D	0.990401	0.97232	D	0.35625058	0.57549	0.41001984	0.65274	0.35625058	0.57550	0.41001984	0.65274	-13.019	0.89443	D	.	.	0.947	0.86596	P	.;.;.;.	.;.;.;.	5.395121	0.90367	31	0.99867272182985301	0.94547	0.99109	0.91358	D	AEFDBI	0.921725	0.89563	D	0.739565786167229	0.82226	7.710136	0.667519951951751	0.79923	7.185792	0.999999999908354	0.74766	0.652421	0.48094	0	0.627178	0.54094	0	0.64067	0.45733	0	0.616125	0.45549	0	.	.	4.04	4.04	0.46262	9.868000	0.98461	11.841000	0.97811	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	14.053	0.64269	804	0.43891	Transcription factor COE, DNA-binding domain|Transcription factor COE, DNA-binding domain;Transcription factor COE, DNA-binding domain|Transcription factor COE, DNA-binding domain;Transcription factor COE, DNA-binding domain|Transcription factor COE, DNA-binding domain;Transcription factor COE, DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	701.98	34	chr20	2749404	.	G	A	701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.794;DP=781;ExcessHet=0.0000;FS=0.887;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=0.863;SOR=0.553	GT:AD:DP:GQ:PL	0/1:47,31:78:99:716,0,1196	20	0	1	0
chr20	3167046	3167046	C	T	exonic	LZTS3	.	nonsynonymous SNV	LZTS3:NM_001282533:exon3:c.G118A:p.V40M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.973	D	0.007	N	1.000	D	1.59	L	0.71	T	-0.455	T	0.285	T	0.692	5.020	29.6	4.36	1.976	2.994	16.91	0.197	0.0258592431877	.	0.000199681	0.0005	0	0	0.0030	0	0.0004	0	0.0001	0.0002135	33	154602	rs531081411	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0003	0.0002	0.0001	3.967e-05	0.0006	2.615e-05	0.0005	0.0002	0.0004	7.176e-05	0.0001	0.0001	0.0001	9.397e-05	0.0012	7.57e-05	6.276e-05	0.0005	0.0003	7.215e-05	0	6.533e-05	0	0.0012	0	0	0.0001	0	0	0.002	0.72154	D	0.0	0.92824	D	0.999	0.90584	D	0.939	0.72923	D	0.007411	0.31413	N	0.296523	1	0.81001	D	2.485	0.72352	M	0.71	0.56772	T	-2.31	0.51968	N	0.22	0.39659	-0.4547	0.70245	T	0.285	0.65705	T	10	0.03346309	0.01524	T	0.025859	0.48807	D	0.197	0.47942	.	.	0.321115633427	0.31720	0.7169725355721657	0.71640	0.182867847084	0.20557	0.837114989758	0.87653	D	0.040788	0.25642	T	-0.207085	0.19792	T	-0.100319	0.63373	T	0.0484857377042399	0.05230	T	0.856914	0.55722	D	0.13946864	0.32215	0.18474858	0.41545	0.13946864	0.32215	0.18474858	0.41544	-4.85	0.35168	T	.	.	0.819	0.78182	P	.;.;.;.	.;.;.;.	3.904257	0.56897	23.8	0.99889641098093085	0.96436	0.98342	0.81813	D	AEFDBI	0.515678	0.54253	D	0.515216799744852	0.67988	5.155843	0.478066085718498	0.66538	4.965278	0.999999999999274	0.74766	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	4.36	4.36	0.51643	1.937000	0.39821	3.685000	0.39479	0.599000	0.40250	0.995000	0.38783	0.999000	0.35428	0.955000	0.50612	0.0:1.0:0.0:0.0	16.91	0.86006	665	0.61472	.;.;.;.	.	.	.	.	.	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	988.98	43	chr20	3167046	.	C	T	988.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=904;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.54;ReadPosRankSum=0.651;SOR=0.754	GT:AD:DP:GQ:PL	0/1:32,36:68:99:1003,0,757	20	0	1	0
chr20	3234786	3234786	C	A	exonic	SLC4A11	.	nonsynonymous SNV	SLC4A11:NM_032034:exon2:c.G245T:p.R82L	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	2112631	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.91	P	0.437	B	0.520	N	0.998	D	1.87	L	-1.69	D	-0.111	T	0.615	D	0.802	4.321	22.7	4.76	2.201	3.193	16.541	0.609	0.158233494561	7.7e-05	0.000399361	0.0002	0	8.652e-05	0	0	0.0002	0	0.0001	0.0001358	21	154602	rs200106947	0.0001	0.0001	8.712e-05	0.0001	0.0005	8.713e-05	8.201e-05	0.0001	8.645e-05	0	8.945e-05	0	0	0	0.0005	0.0001	0.0001	0.0002	9.195e-05	9.187e-05	8.996e-05	9.403e-05	0.0003	5.525e-05	4.363e-05	8.87e-05	5.282e-05	2.407e-05	0	0.0003	0	0	0	0	0.0001	0	0.0002	0.008	0.59928	D	0.008	0.67890	D	0.845	0.46707	P	0.253	0.39112	B	0.520122	0.05197	N	1.431730	0.998264	0.44698	D	1.625	0.41611	L	-1.72	0.83495	D	-1.61	0.39314	N	0.763	0.77601	-0.1106	0.79853	T	0.615	0.86376	D	10	0.21988231	0.38670	T	0.158233	0.83867	D	0.609	0.84666	.	.	0.95075320592	0.95022	0.6130092814293496	0.61232	0.84949818172	0.68455	0.502622783184	0.39193	T	0.222035	0.58577	T	0.0150646	0.53713	T	0.0740058	0.75177	D	0.160707637667656	0.17924	T	0.915508	0.69822	D	0.16547091	0.36821	0.17767748	0.40386	0.16547091	0.36821	0.17767748	0.40385	-5.346	0.40396	T	0.26321210660284905	0.35511	0.247	0.63414	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.554445	0.71708	25.7	0.9981455333046565	0.89797	0.87326	0.46831	D	AEFDBI	0.356621	0.44794	N	0.378031124979323	0.60232	4.210051	0.397117608953143	0.61386	4.338081	0.999999983529213	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	4.76	4.76	0.60189	3.638000	0.54072	2.236000	0.31572	0.596000	0.33519	0.991000	0.37257	0.978000	0.30204	0.937000	0.47636	0.0:1.0:0.0:0.0	16.541	0.84233	421	0.81399	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2218.98	35	chr20	3234786	.	C	A	2218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=911;ExcessHet=0.0000;FS=0.539;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-2.218e+00;SOR=0.739	GT:AD:DP:GQ:PL	0/1:97,88:185:99:2233,0,2241	20	0	1	0
chr20	3671950	3671950	C	A	exonic	ADAM33	.	nonsynonymous SNV	ADAM33:NM_001282447:exon15:c.G1633T:p.V545L	.	.	400	1118	4	0	0	4	0.00178571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.893	P	0.658	P	.	.	0.846	D	1.12	L	2.06	T	-1.046	T	0.051	T	0.132	4.390	23.2	3.33	0.592	2.054	8.387	0.063	0.0160509344362	.	0.000199681	0.0001	0	0	0	0	0.0003	0	0	5.17e-05	8	154602	rs530760730	9.543e-05	9.919e-05	8.016e-05	0.0001	0.0007	8.215e-05	7.668e-05	0.0002	0.0001	0	2.774e-05	0.0010	0	0	0.0007	7.581e-05	0.0002	0.0002	7.877e-05	7.873e-05	0.0001	4.027e-05	0.0002	4.492e-05	3.509e-05	5.841e-05	4.239e-05	2.405e-05	0	0	0.0006	0	0	0	0.0001	0	0.0002	0.007	0.59928	D	0.02	0.64786	D	0.893	0.49136	P	0.658	0.52749	P	.	.	.	.	0.846063	0.35144	D	1.79	0.46772	L	2.06	0.20523	T	-2.39	0.52612	N	0.28	0.31702	-1.0463	0.15447	T	0.051	0.21650	T	9	0.12338078	0.23421	T	0.016051	0.37112	T	0.063	0.18251	0.425	0.47021	0.355658859761	0.35178	0.7582864376820893	0.75776	0.0792000987712	0.08910	0.468165755272	0.34429	T	0.164535	0.51003	T	-0.401811	0.02253	T	-0.578281	0.14698	T	0.124209577910478	0.14837	T	0.881212	0.60074	D	0.3625588	0.58030	0.2965127	0.55683	0.3625588	0.58031	0.2965127	0.55683	-5.206	0.39844	T	.	.	0.149	0.32827	B	.;.;.;.	.;.;.;.	2.714163	0.35483	19.91	0.99566428068635049	0.72136	0.92941	0.56925	D	AEFDBI	0.576513	0.57848	D	-0.141749990187166	0.35588	2.045963	-0.175091480661287	0.32454	1.846638	0.999843788680253	0.43971	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.616125	0.45549	0	.	.	5.3	3.33	0.37245	1.682000	0.37245	0.062000	0.14145	0.597000	0.34315	0.832000	0.30162	0.002000	0.18203	0.739000	0.35404	0.155:0.7619:0.0:0.0831	8.387	0.31666	636	0.64483	ADAM, cysteine-rich|ADAM, cysteine-rich;ADAM, cysteine-rich|ADAM, cysteine-rich;ADAM, cysteine-rich|ADAM, cysteine-rich;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	876.98	33	chr20	3671950	.	C	A	876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.282e+00;DP=791;ExcessHet=0.0000;FS=1.004;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=0.310;SOR=0.884	GT:AD:DP:GQ:PL	0/1:29,36:65:99:891,0,739	20	0	1	0
chr20	6006352	6006352	C	T	exonic	CRLS1	.	nonsynonymous SNV	CRLS1:NM_019095:exon1:c.C106T:p.P36S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.001	B	0.001	D	1.000	N	0.695	N	.	.	-1.024	T	0.052	T	0.139	0.073	4.394	1.09	0.067	1.413	6.298	0.026	0.00842250056515	.	.	.	.	.	.	.	.	.	.	.	.	.	rs982818611	6.497e-06	2.189e-05	4.775e-06	8.29e-06	8.02e-06	2.8e-06	2.02e-06	3.45e-06	2.49e-06	0	0	0	0	0	0	8.02e-06	0	0	1.317e-05	1.314e-05	1.287e-05	1.349e-05	2.945e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.945e-05	0	0	0.735	0.11882	T	0.512	0.17166	T	0.0	0.02946	B	0.001	0.04355	B	0.000920	0.41128	D	0.198140	1	0.08975	N	0.805	0.20218	L	.	.	.	0.63	0.05035	N	0.121	0.11197	-1.0235	0.22573	T	0.052	0.21999	T	9	0.05118081	0.04961	T	0.008423	0.22282	T	0.026	0.05648	0.316	0.29258	0.104622674875	0.10061	0.29262828537979124	0.29175	0.11373131554	0.12830	0.740329861641	0.73021	T	0.025798	0.19218	T	-0.228221	0.16883	T	-0.5656	0.15854	T	0.0255575874263743	0.01346	T	0.508649	0.16166	T	0.022030296	0.00840	0.051978238	0.08472	0.022030296	0.00840	0.051978238	0.08471	-3.997	0.23759	T	.	.	0.099	0.17360	B	.;.	.;.	1.111653	0.14965	11.48	0.75427277150054195	0.11071	0.18692	0.20364	N	ALL	0.037198	0.05080	N	-1.19129258992827	0.05131	0.2331869	-1.19070589821155	0.06064	0.2907835	0.999999999998014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.23	1.09	0.19517	1.141000	0.31140	0.604000	0.19959	-0.349000	0.05595	0.004000	0.16614	0.000000	0.08366	0.004000	0.06068	0.0:0.5385:0.3588:0.1027	6.298	0.20305	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	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	271.98	33	chr20	6006352	.	C	T	271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=629;ExcessHet=0.0000;FS=4.320;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=-1.143e+00;SOR=1.546	GT:AD:DP:GQ:PL	0/1:9,10:19:99:286,0,153	20	0	1	0
chr20	10598723	10598723	T	C	exonic	SLX4IP	.	nonsynonymous SNV	SLX4IP:NM_001009608:exon5:c.T287C:p.L96P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.005	M	1.83	T	-0.844	T	0.160	T	0.978	4.038	20.7	5.31	2.012	4.909	15.303	0.521	0.0419145369331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000004	0.62929	D	0.000000	1	0.81001	D	2.175	0.60977	M	1.83	0.24841	T	-5.27	0.84175	D	0.941	0.94786	-0.8441	0.52372	T	0.160	0.49363	T	10	0.8787596	0.87178	D	0.041915	0.60185	D	0.521	0.79643	0.621	0.75576	0.540472623666	0.53699	0.842809150015122	0.84241	0.607561866137	0.55563	0.580772340298	0.50194	T	0.190089	0.54451	T	0.221134	0.75883	D	0.0798674	0.75569	D	0.998978614807129	0.95761	D	0.693131	0.30283	T	0.92111516	0.93356	0.9132712	0.95921	0.92111516	0.93357	0.9132712	0.95922	-3.661	0.18744	T	.	.	0.701	0.73004	P	.	.	4.669294	0.74605	26.2	0.99897897822085546	0.97048	0.80543	0.40153	D	AEFDGBCIJ	0.680373	0.64409	D	0.662672227992803	0.77192	6.627457	0.631755354719469	0.77257	6.644872	0.99999999999693	0.74766	0.489673	0.17934	0	0.71359	0.82159	0	0.616094	0.41390	0	0.466023	0.07079	0	.	.	5.31	5.31	0.75063	4.964000	0.63410	7.759000	0.68265	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:0.0:1.0	15.303	0.73670	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	0.02381	1420.98	35	chr20	10598723	.	T	C	1420.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.600e-01;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.62;ReadPosRankSum=0.881;SOR=0.721	GT:AD:DP:GQ:PL	0/1:38,53:91:99:1435,0,925	20	0	1	0
chr20	17659511	17659511	C	G	exonic	RRBP1	.	nonsynonymous SNV	RRBP1:NM_001365613:exon3:c.G997C:p.E333Q,	.	.	439	1078	4	0	1	5	0.00185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	.	.	.	.	.	.	1.000	N	.	.	0.61	T	-0.951	T	0.159	T	0.244	2.765	15.21	3.91	1.345	0.912	13.613	0.075	.	.	0.00459265	.	.	.	.	.	.	.	.	0.0009989	26	26028	rs559042880	0.0010	0.0009	0.0010	0.0009	0.0053	0.0009	0.0009	0.0047	0.0044	0	0	0	0.0053	0.0211	0	8.437e-05	0.0007	0.0002	0.0017	0.0018	0.0010	0.0025	0.0085	0.0015	0.0015	0.0065	0.0058	0	0	0	0	0.0085	0.0193	0	0.0002	0.0005	0.0006	0.005	0.63226	D	0.306	0.19972	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	1.83	0.48079	L	0.61	0.53516	T	-0.85	0.23156	N	0.191	0.21710	-0.9505	0.40885	T	0.159	0.49262	T	6	0.0044674873	0.00092	T	.	.	.	0.075	0.21907	.	.	0.553672381021	0.55024	.	.	.	.	.	.	.	0.207982	0.56778	T	-0.453251	0.01080	T	-0.416591	0.31467	T	0.0488946781543855	0.05304	T	0.856214	0.54490	D	0.07000181	0.15382	0.12053177	0.29086	0.07000181	0.15382	0.12053177	0.29085	-10.314	0.75770	D	.	.	0.338	0.56677	B	.;.	.;.	2.780315	0.36519	20.3	0.99159524870896054	0.54043	0.08127	0.14093	N	AEFBI	.	.	.	-0.523316377466055	0.21328	1.131045	-0.626285863788972	0.18819	1.006983	0.999951736645064	0.48110	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.87	3.91	0.44383	2.027000	0.40699	4.921000	0.46042	0.594000	0.32500	0.061000	0.21800	1.000000	0.68203	0.002000	0.04165	0.0:0.8423:0.1577:0.0	13.613	0.61562	898	0.25240	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1004.98	44	chr20	17659511	.	C	G	1004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.819;DP=891;ExcessHet=0.0000;FS=0.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.80;MQRankSum=-1.142e+00;QD=14.36;ReadPosRankSum=-9.000e-02;SOR=0.892	GT:AD:DP:GQ:PL	0/1:28,42:70:99:1019,0,591	20	0	1	0
chr20	32014983	32014983	G	A	exonic	CCM2L	.	nonsynonymous SNV	CCM2L:NM_001365692:exon2:c.G110A:p.R37Q	.	.	.	.	.	.	.	.	.	.	.	3292497	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	2.495	M	0.54	T	-0.206	T	0.367	T	0.829	5.649	36	4.66	2.418	8.977	16.712	0.435	0.0323207142011	.	.	8.544e-06	0	0	0	0	0	0	7.348e-05	6.5e-06	1	154602	rs748777189	2.018e-05	2.326e-05	2.632e-05	1.399e-05	2.723e-05	1.416e-05	1.224e-05	1.225e-05	1.04e-05	0	2.463e-05	0	2.723e-05	0	0	1.907e-05	6.748e-05	2.382e-05	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999679	0.48205	D	2.56	0.74772	M	0.54	0.54911	T	-3.12	0.63782	D	0.888	0.88687	-0.2061	0.77514	T	0.367	0.72750	T	10	0.8188257	0.81100	D	0.032321	0.54176	D	0.435	0.74022	0.388	0.40951	0.613242938708	0.61012	0.5246419303817471	0.52388	0.134347377349	0.15131	0.672524273396	0.63198	T	.	.	.	0.14989	0.69257	D	0.0851865	0.75924	D	0.995374143123627	0.87309	D	0.90161	0.65783	D	.	.	.	.	.	.	.	.	-11.228	0.80893	D	.	.	0.922	0.84333	P	.	.	5.485236	0.91421	32	0.99953007270107275	0.99957	0.99197	0.92664	D	AEFDBI	0.908087	0.86294	D	0.868934323766213	0.90159	10.27846	0.8125365046741	0.90651	10.505	0.999999999999968	0.74766	0.651	0.46895	0	0.563428	0.19063	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	4.66	4.66	0.57857	9.139000	0.93777	11.781000	0.96113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	16.712	0.85247	500	0.76024	.	.	.	.	.	.	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	2416.98	35	chr20	32014983	.	G	A	2416.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=901;ExcessHet=0.0000;FS=3.516;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=1.37;SOR=0.465	GT:AD:DP:GQ:PL	0/1:78,96:174:99:2431,0,1685	20	0	1	0
chr20	32795493	32795493	A	G	exonic	DNMT3B	.	nonsynonymous SNV	DNMT3B:NM_001207056:exon8:c.A923G:p.Y308C	Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Autosomal recessive	.	0	1502	20	0	0	20	0.00661376	.	.	335228	Centromeric_instability_of_chromosomes_1,9_and_16_and_immunodeficiency|not_provided|Kabuki_syndrome_1|not_specified|Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_1	MONDO:MONDO:0000133,MedGen:C0398788,OMIM:PS242860,Orphanet:2268|MedGen:C3661900|MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322|MedGen:CN169374|MONDO:MONDO:0009454,MedGen:C4551557,OMIM:242860,Orphanet:2268	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.2	T	0.002	B	0.007	B	0.159	N	0.897	N	0.895	L	-4.1	D	-0.212	T	0.681	D	0.149	0.935	8.808	1.52	0.923	0.821	0.661	0.040	.	0.0002	0.0159744	0.0089	9.615e-05	0.0014	0	0.0002	0.0002	0.0033	0.0634	0.0078071	1207	154602	rs143462810	0.0039	0.0039	0.0022	0.0056	0.0605	0.0038	0.0038	0.0591	0.0586	2.987e-05	0.0007	3.826e-05	0.0002	1.872e-05	0.0035	8.183e-05	0.0047	0.0605	0.0024	0.0024	0.0012	0.0037	0.0687	0.0022	0.0021	0.0626	0.0602	0.0001	0	0.0008	0	0.0008	0	0	0.0002	0.0009	0.0687	0.145	0.27544	T	0.183	0.29153	T	0.002	0.09854	B	0.002	0.12992	B	0.158811	0.17729	N	0.605501	0.981461	0.27779	N	1.59	0.40313	L	-4.1	0.96659	D	-1.6	0.38540	N	0.183	0.19861	-0.2123	0.77353	T	0.681	0.88970	D	10	0.0021784306	0.00031	T	.	.	.	0.227	0.52620	.	.	0.589340249404	0.58608	0.1875452257985568	0.18672	0.223836274765	0.24900	0.550995111465	0.45997	T	0.077281	0.35617	T	-0.313969	0.07403	T	-0.178981	0.56617	T	0.0228577437426008	0.01006	T	0.883212	0.61335	D	0.059401006	0.12068	0.049619008	0.07621	0.079411715	0.18141	0.049619008	0.07621	-3.065	0.10898	T	0.08472745542654836	0.04706	0.050	0.00145	B	.;.;.;.;.;.	.;.;.;.;.;.	1.736035	0.22091	15.48	0.8761316044698515	0.17354	0.10758	0.16172	N	AEFBCI	0.043783	0.06965	N	-0.843575027149107	0.12208	0.5937067	-0.770910383119167	0.15210	0.7987583	0.992998457867523	0.33045	0.631515	0.41029	0	0.588066	0.40923	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.2	1.52	0.22158	0.858000	0.27500	0.534000	0.19274	0.756000	0.94297	0.052000	0.21487	0.000000	0.08366	0.934000	0.47231	0.4673:0.1989:0.1427:0.1911	0.661	0.00789	311	0.87433	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1817.98	34	chr20	32795493	.	A	G	1817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.253;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=1.77;SOR=0.675	GT:AD:DP:GQ:PL	0/1:66,74:140:99:1832,0,1615	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	0/1:90,44:138:99:104,0,1445	2	0	19	0
chr20	37007453	37007453	C	G	exonic	RBL1	.	nonsynonymous SNV	RBL1:NM_001323281:exon19:c.G1548C:p.K516N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.888	P	0.765	P	0.000	D	0.974	D	3.09	M	-3.12	D	0.840	D	0.839	D	0.305	3.628	18.46	3.32	1.470	0.392	9.678	0.645	0.0858146876721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	2.269e-05	7.792e-05	7.702e-05	3.801e-05	0	0.0003	0.0002	7.038e-05	6.586e-06	6.573e-06	1.287e-05	0	.	0	0	.	.	0	0	0	0	0	9.495e-05	0	0	0	0	0.002	0.72154	D	0.005	0.72224	D	0.738	0.48822	P	0.765	0.56630	P	0.000005	0.62929	D	0.104648	0.973806	0.39053	D	3.28	0.90206	M	-3.12	0.92774	D	-3.34	0.66325	D	0.708	0.71143	0.840	0.94902	D	0.839	0.94628	D	10	0.8987119	0.89228	D	0.085815	0.74611	D	0.645	0.86536	0.835	0.94294	0.945463439951	0.94489	0.6022124185921854	0.60152	0.625094447251	0.56694	0.728086709976	0.71226	T	0.758	0.93414	D	0.118849	0.66256	D	-0.0670579	0.65836	T	0.990135967731476	0.80349	D	0.882912	0.61284	D	0.88073915	0.89727	0.67431754	0.80880	0.88073915	0.89729	0.67431754	0.80881	-10.734	0.78179	D	.	.	0.883	0.81684	P	.;.	.;.	3.686440	0.52496	23.2	0.9987577306951968	0.95244	0.83174	0.42314	D	AEFBI	0.222942	0.34736	N	0.416761997621375	0.62342	4.448737	0.369751200552894	0.59705	4.150779	0.977451831980098	0.29823	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.29	3.32	0.37134	0.426000	0.21081	0.386000	0.17834	0.446000	0.21189	0.998000	0.41325	0.994000	0.32194	0.992000	0.67800	0.0:0.7242:0.0:0.2758	9.678	0.39217	793	0.45818	Retinoblastoma-associated protein, B-box;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	354.31	33	chr20	37007453	.	C	G	354.31	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.577e+00;DP=1113;ExcessHet=0.6776;FS=128.460;InbreedingCoeff=-0.1019;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.82;ReadPosRankSum=1.10;SOR=9.383	GT:AD:DP:GQ:PL	0/1:82,29:113:99:324,0,1800	17	0	4	0
chr20	37931788	37931788	C	T	exonic	VSTM2L	.	nonsynonymous SNV	VSTM2L:NM_080607:exon2:c.C275T:p.A92V,	.	.	423	1026	69	4	0	77	0.0361672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.355	B	0.071	B	0.000	D	1.000	N	1.32	L	1.68	T	-0.878	T	0.122	T	0.221	2.322	13.72	3.71	1.070	3.699	14.315	0.032	.	0.0042	0.0117812	0.0098	0.0019	0.0023	0.0004	0.0057	0.0045	0.0149	0.0471	0.0085381	1320	154602	rs146022041	0.0061	0.0061	0.0047	0.0075	0.0485	0.0060	0.0060	0.0472	0.0467	0.0024	0.0018	0.0047	0.0001	0.0059	0.0165	0.0033	0.0072	0.0485	0.0048	0.0049	0.0037	0.0060	0.0478	0.0045	0.0044	0.0427	0.0408	0.0018	0.0044	0.0025	0.0061	0	0.0065	0.0204	0.0041	0.0047	0.0478	0.269	0.17468	T	0.25	0.23707	T	0.355	0.33731	B	0.071	0.27960	B	0.000401	0.44736	D	0.226724	1	0.81001	D	0.895	0.22405	L	-0.12	0.64630	T	-1.41	0.45222	N	0.437	0.47580	-0.8785	0.49880	T	0.122	0.42441	T	10	0.0047867894	0.00101	T	.	.	.	0.032	0.07718	.	.	0.26169431596	0.25797	0.13540269107496228	0.13464	0.217275047977	0.24248	0.488715529442	0.37260	T	0.017388	0.14198	T	-0.459898	0.00985	T	-0.39908	0.33492	T	0.0156149174097317	0.00357	T	0.877312	0.59062	D	0.119384415	0.28111	0.15047161	0.35486	0.119384415	0.28111	0.15047161	0.35485	-6.433	0.49767	T	.	.	0.115	0.22897	B	.;.	.;.	3.914083	0.57101	23.8	0.98953576036538993	0.49189	0.97240	0.73520	D	AEFDGBI	0.603113	0.59472	D	-0.174269650302517	0.34209	1.949822	-0.0849837739291406	0.36010	2.090288	0.999998422191381	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.66	3.71	0.41733	3.815000	0.55355	3.908000	0.40392	0.537000	0.25018	0.996000	0.39380	0.999000	0.35428	0.817000	0.38496	0.0:0.8506:0.1494:0.0	14.315	0.65999	843	0.36859	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5312.66	41	chr20	37931788	.	C	T	5312.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.02;DP=923;ExcessHet=0.0000;FS=5.274;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.95;ReadPosRankSum=0.185;SOR=1.057	GT:AD:DP:GQ:PL	0/1:63,50:113:99:1266,0,1447	19	1	1	0
chr20	38497424	38497424	A	G	exonic	RALGAPB	.	nonsynonymous SNV	RALGAPB:NM_001282917:exon4:c.A461G:p.E154G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.59	P	0.275	B	0.000	D	1.000	D	1.555	L	-0.07	T	-0.786	T	0.212	T	0.631	3.317	17.15	5.32	2.004	9.089	15.319	0.253	0.0347406351716	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376920561	1.095e-05	1.095e-05	1.089e-05	1.1e-05	1.439e-05	6.48e-06	5.25e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	0	3.287e-05	3.284e-05	6.426e-05	0	5.882e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.414e-05	0	0	0	0	0	0	5.882e-05	0	0	0.494	0.07895	T	0.411	0.14500	T	0.447	0.36006	B	0.168	0.35187	B	0.000002	0.62929	D	0.100373	1	0.81001	D	1.39	0.34934	L	-0.07	0.63738	T	-1.92	0.44657	N	0.674	0.68690	-0.7859	0.55967	T	0.212	0.57321	T	10	0.46004295	0.59228	T	0.034741	0.55878	D	0.253	0.56294	.	.	0.15499578495	0.15088	0.380808061166969	0.37995	1.03285227811	0.75478	0.6066583395	0.53844	T	0.054125	0.29635	T	0.0640633	0.60119	T	-0.130268	0.60949	T	0.77552193403244	0.44774	D	0.931907	0.74605	D	0.17901613	0.38952	0.15158099	0.35700	0.17901613	0.38951	0.15158099	0.35699	-9.597	0.71461	D	.	.	0.313	0.53989	B	.;.;.	.;.;.	4.538655	0.71321	25.7	0.99791897088501891	0.87750	0.99570	0.97553	D	AEFDBIJ	0.854658	0.77170	D	0.295297329439441	0.55911	3.755122	0.417932989800249	0.62682	4.487785	0.999999997091574	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.32	5.32	0.75377	9.078000	0.93430	11.194000	0.88775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.319	0.73814	855	0.34697	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	341.57	131	chr20	38497424	.	A	G	341.57	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-3.982e+00;DP=1625;ExcessHet=2.5830;FS=165.447;InbreedingCoeff=-0.2003;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=-1.800e-01;SOR=9.953	GT:AD:DP:GQ:PL	0/1:104,28:132:32:32,0,1994	14	0	7	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	0/1:26,8:34:2:.:.:2,0,512	15	0	6	0
chr20	45843545	45843545	A	T	exonic	ACOT8	.	nonsynonymous SNV	ACOT8:NM_005469:exon5:c.T823A:p.C275S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.379	B	0.197	B	0.000	D	1.000	D	1.595	L	.	.	-0.749	T	0.214	T	0.757	3.092	16.33	5.03	2.118	6.782	14.945	0.287	0.00990003144916	.	0.000399361	0.0002	0	9.688e-05	0	0	0	0	0.0012	0.0001358	21	154602	rs562671523	5.832e-05	5.951e-05	3.136e-05	8.563e-05	0.0009	4.824e-05	4.444e-05	0.0007	0.0007	0	0	0	0	0	0	1.804e-06	8.311e-05	0.0009	2.626e-05	2.625e-05	0	5.37e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.442	0.09209	T	0.425	0.13912	T	0.379	0.34321	B	0.197	0.36707	B	0.000000	0.84330	D	0.044142	1	0.81001	D	1.485	0.37223	L	.	.	.	-1.7	0.40468	N	0.814	0.80964	-0.7490	0.57988	T	0.214	0.57521	T	9	0.2951527	0.47085	T	0.010	0.25788	T	0.287	0.60574	0.717	0.85230	0.583020407013	0.57975	0.689816950727762	0.68921	0.254296424506	0.27998	0.850188612938	0.89643	D	0.27738	0.65000	T	-0.117499	0.33534	T	0.0128924	0.71169	D	0.197578458091662	0.20282	T	0.938306	0.76795	D	0.31512246	0.54226	0.232002	0.48348	0.31512246	0.54226	0.232002	0.48347	-8.521	0.64568	D	.	.	0.618	0.69604	P	.	.	3.320935	0.45673	22.2	0.94067212851173754	0.24206	0.95040	0.63219	D	AEFGBCI	0.919727	0.89067	D	0.141771936591017	0.48421	3.054742	0.266098481451985	0.53570	3.525331	0.999999999999663	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.03	5.03	0.67015	6.756000	0.74715	11.198000	0.88920	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	1.0:0.0:0.0:0.0	14.945	0.70669	798	0.45050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1227.98	37	chr20	45843545	.	A	T	1227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=841;ExcessHet=0.0000;FS=4.790;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-6.500e-01;SOR=0.360	GT:AD:DP:GQ:PL	0/1:61,48:109:99:1242,0,1677	20	0	1	0
chr20	48649562	48649562	T	C	exonic	PREX1	.	nonsynonymous SNV	PREX1:NM_020820:exon25:c.A3043G:p.M1015V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.034	B	0.027	B	0.000	U	0.998	D	1.06	L	1.11	T	-1.060	T	0.076	T	0.262	2.036	12.76	4.74	1.763	4.941	8.125	0.019	0.00819632438587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.382e-06	1.368e-06	1.372e-06	1.391e-06	2.365e-05	2.3e-07	9e-08	.	.	0	2.365e-05	0	0	0	0	9.055e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.28148	T	0.198	0.27767	T	0.034	0.20480	B	0.02	0.19048	B	0.000421	0.44736	U	0.093087	0.998292	0.44734	D	0.745	0.18958	N	1.11	0.38883	T	-1.73	0.41046	N	0.133	0.12913	-1.0604	0.11656	T	0.076	0.30615	T	10	0.15552193	0.29310	T	0.008196	0.21725	T	0.019	0.03383	0.358	0.36060	0.380246515176	0.37641	0.5545498768001944	0.55381	0.350051161007	0.36849	0.39008423686	0.23681	T	0.039879	0.25338	T	-0.138868	0.30071	T	-0.437251	0.29116	T	0.723190784454346	0.41860	D	0.885811	0.61165	D	0.23642509	0.46493	0.17857137	0.40535	0.23642509	0.46493	0.17857137	0.40534	-1.847	0.02653	T	.	.	0.071	0.03698	B	.	.	2.961773	0.39448	21.0	0.97613705261339401	0.34921	0.89037	0.49267	D	AEFBHCI	0.703313	0.65939	D	-0.0938486336449958	0.37661	2.194393	0.0694136318453689	0.43021	2.612492	0.929828381477416	0.26983	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.74	4.74	0.59717	4.937000	0.63213	6.203000	0.54917	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.101:0.0:0.899	8.125	0.30153	829	0.39537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	518.98	37	chr20	48649562	.	T	C	518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.867e+00;DP=738;ExcessHet=0.0000;FS=1.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=1.57;SOR=1.022	GT:AD:DP:GQ:PL	0/1:28,25:53:99:533,0,730	20	0	1	0
chr20	49880967	49880967	C	A	exonic	SLC9A8	.	nonsynonymous SNV	SLC9A8:NM_001260491:exon13:c.C1250A:p.S417Y	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.954	D	0.000	D	1.000	D	3.275	M	2.32	T	-0.632	T	0.179	T	0.939	4.997	29.3	5.62	2.644	7.681	19.676	0.685	0.0610250652117	.	.	8.237e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs762195695	4.105e-06	4.104e-06	5.446e-06	2.75e-06	1.159e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	0.93	0.51791	P	0.866	0.61580	P	0.000000	0.84330	D	0.048700	1	0.81001	D	3.495	0.92709	M	2.32	0.16640	T	-4.48	0.77965	D	0.939	0.95956	-0.6317	0.63498	T	0.179	0.52489	T	10	0.9003495	0.89396	D	0.061025	0.68195	D	0.685	0.88490	0.76	0.88892	0.692951273293	0.69030	0.9724137673658597	0.97230	1.27251452681	0.82317	0.90429353714	0.96901	D	0.225772	0.59060	T	0.184482	0.72455	D	0.124073	0.78503	D	0.990209102630615	0.80421	D	0.991901	0.97458	D	0.8312886	0.85992	0.7865639	0.87433	0.8312886	0.85994	0.7865639	0.87433	-13.696	0.93275	D	.	.	0.982	0.94272	P	.;.	.;.	5.501042	0.91587	32	0.99557474969633042	0.71521	0.99553	0.97372	D	AEFDGBI	0.884473	0.81419	D	0.936025060150651	0.93410	12.02076	0.888498676579447	0.95050	13.26844	0.999999999999881	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	7.768000	0.84170	7.589000	0.61191	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.676	0.95927	970	0.06235	.;Cation/H+ exchanger	.	.	.	.	.	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	1909.98	34	chr20	49880967	.	C	A	1909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.318;DP=883;ExcessHet=0.0000;FS=1.118;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.65;ReadPosRankSum=-2.090e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/1:116,82:198:99:1924,0,2858	20	0	1	0
chr20	54028628	54028628	C	A	exonic	BCAS1	.	nonsynonymous SNV	BCAS1:NM_001316361:exon4:c.G487T:p.V163F	.	.	429	1034	56	3	0	62	0.029108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.868	P	0.32	B	0.277	N	1.000	N	0.69	N	3.3	T	-0.961	T	0.007	T	0.246	2.781	15.26	0.45	0.337	-0.133	2.756	0.031	.	0.0072	0.0121805	0.0122	0.0023	0.0054	0.0032	0.0023	0.0092	0.0143	0.0435	0.0110542	1709	154602	rs61754122	0.0082	0.0082	0.0068	0.0095	0.0435	0.0080	0.0080	0.0423	0.0419	0.0025	0.0055	0.0216	0.0013	0.0018	0.0244	0.0057	0.0100	0.0435	0.0068	0.0068	0.0064	0.0073	0.0425	0.0065	0.0063	0.0378	0.0359	0.0024	0	0.0058	0.0187	0.0021	0.0023	0.0238	0.0077	0.0085	0.0425	0.012	0.58626	D	0.046	0.49120	D	0.868	0.47740	P	0.32	0.41729	B	0.277183	0.15013	N	0.648898	1	0.08975	N	0.69	0.16971	N	3.3	0.06368	T	-1.09	0.28290	N	0.055	0.03175	-0.9612	0.38955	T	0.007	0.02598	T	10	0.0027716756	0.00043	T	.	.	.	0.067	0.19503	.	.	.	.	0.03992220136706161	0.03938	0.289761338798	0.31384	0.328943371773	0.14774	T	0.021546	0.16761	T	-0.480598	0.00733	T	-0.432422	0.29661	T	0.0165141970174594	0.00415	T	0.69603	0.30552	T	0.05788448	0.11576	0.05855628	0.10839	0.05788448	0.11576	0.05855628	0.10839	-6.569	0.50816	T	.	.	0.094	0.19235	B	.;.;.	.;.;.	1.223381	0.16175	12.37	0.99409088839058579	0.63169	0.09415	0.15175	N	AEFDBCI	0.158754	0.28445	N	-0.719141057650663	0.15484	0.7807461	-0.817846634436971	0.14063	0.7328977	0.999540203599691	0.40300	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.87	0.45	0.15835	0.146000	0.16000	0.467000	0.18675	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2632:0.4301:0.0:0.3067	2.756	0.04969	985	0.02828	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3184.11	34	chr20	54028628	.	C	A	3184.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.49;DP=952;ExcessHet=0.1072;FS=3.625;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=2.17;SOR=0.486	GT:AD:DP:GQ:PL	0/1:65,71:136:99:2060,0,1799	19	0	2	0
chr20	62064676	62064676	T	C	exonic	TAF4	.	nonsynonymous SNV	TAF4:NM_003185:exon1:c.A1135G:p.M379V,	.	.	403	1106	13	0	0	13	0.0058427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.252	B	0.034	B	0.057	U	0.822	N	0.975	L	1.91	T	-1.060	T	0.039	T	0.373	-1.674	0.012	2.48	0.775	2.307	10.234	0.051	0.0318773868943	.	0.000599042	0.0015	0	0.0054	0	0	0.0010	0	0.0076	7.76e-05	12	154602	rs578126552	0.0005	0.0004	0.0004	0.0005	0.0041	0.0004	0.0004	0.0029	0.0027	4.509e-05	0.0002	0.0007	0	0	0.0041	0.0004	0.0007	0.0033	0.0005	0.0005	0.0006	0.0004	0.0025	0.0004	0.0003	0.0014	0.0011	0.0002	0	0.0003	0.0018	0	0	0	0.0006	0.0005	0.0025	0.01	0.56456	D	0.418	0.14200	T	0.252	0.31228	B	0.034	0.22546	B	0.056858	0.22527	U	0.418837	0.822435	0.28865	N	0.55	0.14455	N	1.91	0.23283	T	-0.1	0.08495	N	0.413	0.45331	-1.0602	0.11706	T	0.039	0.16935	T	10	0.0067034066	0.00152	T	0.031877	0.53851	D	0.051	0.14325	.	.	0.23798241625	0.23396	0.29912110779268963	0.29825	0.785438773156	0.65489	0.706029891968	0.68017	T	0.055793	0.30106	T	-0.131286	0.31289	T	-0.42636	0.30350	T	0.0346589345810708	0.02750	T	0.458954	0.13262	T	0.46546793	0.65011	0.26275417	0.52071	0.46546793	0.65012	0.26275417	0.52070	0.101	0.00315	T	.	.	0.220	0.45049	B	.	.	2.245323	0.28674	17.88	0.62895342292285583	0.07081	0.40112	0.26364	N	AEFDBHCI	0.133355	0.25298	N	-0.521524255279347	0.21384	1.134502	-0.482409194487195	0.22639	1.230604	0.999982815225888	0.51787	0.65757	0.49021	0	0.541556	0.11502	0	0.619478	0.44681	0	0.56751	0.32155	0	.	.	2.48	2.48	0.29194	1.963000	0.40076	1.165000	0.24581	0.482000	0.22156	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	10.234	0.42450	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	215.98	24	chr20	62064676	.	T	C	215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=612;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=0.676;SOR=0.368	GT:AD:DP:GQ:PL	0/1:7,8:15:99:230,0,192	20	0	1	0
chr20	62313454	62313454	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon64:c.C8665T:p.P2889S,	.	.	400	1104	18	0	0	18	0.00808625	.	.	717103	not_provided|LAMA5-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.85	T	0.072	B	0.043	B	0.296	U	1.000	N	0.27	N	2.41	T	-1.005	T	0.016	T	0.179	-1.606	0.014	-0.228	-0.011	-0.376	8.477	0.026	0.0094599243594	0.0037	0.00259585	0.0051	0.0016	0.0067	0	0.0009	0.0072	0.0052	0.0008	0.0036739	568	154602	rs138708242	0.0044	0.0044	0.0045	0.0044	0.0185	0.0043	0.0043	0.0156	0.0146	0.0013	0.0086	0.0028	0	0.0003	0.0185	0.0049	0.0051	0.0006	0.0042	0.0042	0.0041	0.0043	0.0094	0.0039	0.0038	0.0082	0.0077	0.0012	0.0186	0.0094	0.0035	0	0.0004	0.0204	0.0057	0.0090	0.0008	0.75	0.03587	T	0.785	0.04260	T	0.072	0.23997	B	0.043	0.24256	B	0.296417	0.03927	U	1.883920	1	0.08975	N	0.245	0.09735	N	2.41	0.15492	T	-1.11	0.28703	N	0.211	0.23506	-1.0049	0.28487	T	0.016	0.06664	T	10	0.0032201707	0.00055	T	0.00946	0.24786	T	0.026	0.05648	.	.	0.340432005269	0.33650	0.30327949198543697	0.30240	.	.	0.255870610476	0.04411	T	0.104271	0.41368	T	-0.63588	0.00088	T	-0.681609	0.06886	T	0.00242892271330381	0.00025	T	0.582642	0.21138	T	0.03070166	0.02780	0.034928128	0.02650	0.03070166	0.02779	0.034928128	0.02650	-6.135	0.47395	T	.	.	0.072	0.04316	B	.	.	0.632260	0.10007	6.760	0.52933846019157904	0.04842	0.15193	0.18790	N	AEFGBCI	0.169019	0.29582	N	-1.37759800172214	0.02849	0.1263878	-1.38366810103709	0.03425	0.1597595	0.899052213945012	0.26041	0.706548	0.73137	0	0.588066	0.40923	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.34	-0.228	0.12452	-0.504000	0.06456	0.043000	0.13895	-0.196000	0.09079	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4085:0.4355:0.156	8.477	0.32179	774	0.48577	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	3793.66	37	chr20	62313454	.	G	A	3793.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.930;DP=931;ExcessHet=0.0000;FS=3.851;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.18;ReadPosRankSum=0.966;SOR=0.433	GT:AD:DP:GQ:PL	0/1:52,37:89:99:873,0,1261	19	1	1	0
chr20	62318945	62318945	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon52:c.C6940T:p.R2314W,	.	.	412	1100	10	0	0	10	0.00452489	.	.	2128698	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.06	B	0.013	B	0.061	N	1.000	N	1.1	L	2.78	T	-1.005	T	0.013	T	0.182	0.602	7.243	0.458	-0.183	2.070	4.828	0.036	0.0371110188731	0.0003	0.000599042	0.0005	0	0.0007	0	0.0005	0.0007	0	0.0004	0.0003169	49	154602	rs201303962	0.0004	0.0004	0.0003	0.0004	0.0056	0.0003	0.0003	0.0041	0.0035	0.0001	0.0004	0	0	4.16e-05	0.0056	0.0004	0.0006	0.0003	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	2.407e-05	0	0.0001	0	0	0.0002	0.0034	0.0005	0.0005	0.0006	0.173	0.22573	T	0.052	0.47581	T	0.06	0.23119	B	0.013	0.16460	B	0.061045	0.22202	N	0.452057	0.999999	0.08975	N	1.08	0.27187	L	2.78	0.11298	T	-3.64	0.69835	D	0.29	0.32812	-1.0054	0.28337	T	0.013	0.05081	T	10	0.030061334	0.01132	T	0.037111	0.57411	D	0.036	0.09122	.	.	0.206203607746	0.20212	0.324488234620309	0.32361	.	.	0.470058590174	0.34688	T	0.113339	0.43031	T	-0.522781	0.00424	T	-0.606747	0.12250	T	0.0632181531677816	0.07666	T	0.682432	0.29103	T	0.10287255	0.24311	0.07624333	0.16869	0.10287255	0.24310	0.07624333	0.16868	-6.894	0.53255	T	.	.	0.102	0.17827	B	.	.	3.188377	0.43307	21.7	0.92787345666927878	0.22306	0.26152	0.22910	N	AEFDGBCI	0.208027	0.33415	N	-0.997228787310727	0.08663	0.407031	-1.04039814860417	0.08908	0.4403721	0.670159914126991	0.22366	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.25	0.458	0.15882	2.739000	0.47083	0.897000	0.22519	0.653000	0.53440	0.937000	0.32526	0.000000	0.08366	0.002000	0.04165	0.2242:0.0:0.6165:0.1593	4.828	0.12789	774	0.48577	Laminin alpha, domain I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3205.66	33	chr20	62318945	.	G	A	3205.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.99;DP=815;ExcessHet=0.0000;FS=0.732;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=22.90;ReadPosRankSum=-3.580e-01;SOR=0.562	GT:AD:DP:GQ:PL	0/1:35,46:81:99:1260,0,775	19	1	1	0
chr20	62813277	62813277	A	0	exonic	OGFR	.	.	.	.	.	523	886	20	13	80	126	0.0253025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	2213.86	12	chr20	62813277	.	A	*,G	2213.86	.	AC=3,6;AF=0.079,0.158;AN=38;BaseQRankSum=-1.555e+00;DP=527;ExcessHet=0.1022;FS=5.579;InbreedingCoeff=0.2459;MLEAC=2,7;MLEAF=0.053,0.184;MQ=54.26;MQRankSum=0.052;QD=19.25;ReadPosRankSum=-3.440e-01;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:4,0,16:20:99:0|1:62813277_A_G:538,550,718,0,168,121:62813277	12	1	1	2
chr20	62813313	62813313	G	0	exonic	OGFR	.	.	.	.	.	901	501	16	13	91	133	0.0402299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2484.09	12	chr20	62813313	.	G	A,*	2484.09	.	AC=6,3;AF=0.273,0.136;AN=22;BaseQRankSum=1.18;DP=455;ExcessHet=0.3267;FS=2.908;InbreedingCoeff=0.1128;MLEAC=9,3;MLEAF=0.409,0.136;MQ=53.32;MQRankSum=-1.420e-01;QD=23.00;ReadPosRankSum=0.217;SOR=1.040	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,16,0:21:99:0|1:62813277_A_G:657,0,151,672,199,871:62813277	4	1	4	10
chr20	62840553	62840553	G	A	exonic	COL9A3	.	nonsynonymous SNV	COL9A3:NM_001853:exon32:c.G1876A:p.V626M,	Epiphyseal dysplasia, multiple, 3, with or without myopathy, Autosomal dominant	.	4	1511	7	0	0	7	0.00231099	.	.	793847	COL9A3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.926	P	0.253	B	0.000	N	0.999	D	1.355	L	-2.17	D	-0.222	T	0.461	T	0.342	2.269	13.55	3.65	0.707	5.178	12.342	0.287	0.150572438147	0.0002	.	0.0004	0.0005	8.691e-05	0.0007	0	0.0001	0.0011	0.0017	0.0003169	49	154602	rs146407922	0.0002	0.0002	0.0002	0.0003	0.0020	0.0002	0.0002	0.0016	0.0016	0.0003	0.0001	0	0.0003	0	0.0020	8.365e-05	0.0002	0.0019	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	0.0001	0	0.0003	0	0.0002	0	0	0.0002	0.0014	0.0008	0.447	0.09075	T	0.105	0.38016	T	0.926	0.51467	P	0.253	0.39112	B	0.000036	0.55875	N	0.120685	0.999319	0.46639	D	1.48	0.37141	L	-2.17	0.86624	D	-0.82	0.22508	N	0.243	0.27435	-0.2219	0.77101	T	0.461	0.79112	T	10	0.048279524	0.04257	T	0.150572	0.83224	D	0.287	0.60574	.	.	0.770406245332	0.76830	0.49815278097916077	0.49736	0.421488314731	0.42653	0.477091640234	0.35657	T	0.003686	0.03091	T	-0.273541	0.11365	T	-0.178929	0.56623	T	0.0556023954975193	0.06458	T	0.882912	0.60466	D	0.09110877	0.21340	0.06984541	0.14767	0.09110877	0.21340	0.06984541	0.14767	-4.362	0.29037	T	.	.	0.112	0.22061	B	.;.	.;.	2.773824	0.36418	20.2	0.98801730074682015	0.46461	0.97459	0.74885	D	AEFDBI	0.628109	0.61032	D	-0.147115134962824	0.35358	2.029862	-0.157988283125349	0.33103	1.89005	0.999426292069962	0.39630	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.63	3.65	0.40985	6.356000	0.72989	4.998000	0.46575	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.113000	0.18872	0.1388:0.0:0.8612:0.0	12.342	0.54424	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1357.98	37	chr20	62840553	.	G	A	1357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=944;ExcessHet=0.0000;FS=0.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-1.084e+00;SOR=0.774	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1372,0,1521	20	0	1	0
chr20	64032910	64032910	G	A	exonic	PRPF6	.	nonsynonymous SNV	PRPF6:NM_012469:exon21:c.G2743A:p.V915M,	Retinitis pigmentosa 60, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	346144	Retinitis_pigmentosa|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.936	P	0.388	B	0.000	D	1.000	D	2.81	M	-1.35	T	0.140	D	0.512	D	0.256	3.799	19.29	4.01	1.212	6.291	12.877	0.603	0.149565306082	0.0008	0.000998403	0.0006	0.0024	0.0007	0	0	0.0005	0.0011	0	0.0005498	85	154602	rs139778757	0.0004	0.0004	0.0004	0.0004	0.0033	0.0004	0.0004	0.0022	0.0020	0.0027	0.0012	0.0027	0	1.902e-05	0.0033	0.0003	0.0011	4.637e-05	0.0010	0.0010	0.0011	0.0009	0.0021	0.0009	0.0008	0.0017	0.0016	0.0021	0	0.0016	0.0023	0	0	0.0034	0.0004	0.0024	0	0.042	0.41637	D	0.019	0.59159	D	0.936	0.52359	P	0.388	0.44086	B	0.000211	0.47681	D	0.183154	1	0.81001	D	2.965	0.85198	M	-1.37	0.80214	T	-2.05	0.47008	N	0.215	0.24010	0.140	0.84880	D	0.512	0.81676	D	10	0.017671555	0.00379	T	0.149565	0.83135	D	0.603	0.84345	.	.	0.85537823315	0.85398	0.4355634981985972	0.43473	0.497958001545	0.48279	0.470426440239	0.34739	T	0.394281	0.75347	T	-0.280921	0.10569	T	-0.182158	0.56323	T	0.055404697427955	0.06424	T	0.912209	0.68770	D	0.3334039	0.55747	0.1660991	0.38391	0.3334039	0.55748	0.1660991	0.38390	-8.487	0.64343	D	0.4158587710695717	0.50540	0.200	0.42419	B	.	.	4.520482	0.70871	25.6	0.99743258093798992	0.83703	0.92688	0.56304	D	AEFGBHCI	0.815305	0.73731	D	0.467074259177552	0.65178	4.789992	0.454546916251075	0.65010	4.769858	0.99999999999878	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.98	4.01	0.45821	6.407000	0.73202	9.505000	0.80913	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.899000	0.43558	0.0819:0.0:0.9181:0.0	12.877	0.57384	.	.	.	.	.	.	.	.	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	0.02381	612.98	38	chr20	64032910	.	G	A	612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.36;DP=785;ExcessHet=0.0000;FS=2.243;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.944;SOR=1.030	GT:AD:DP:GQ:PL	0/1:34,23:57:99:627,0,714	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	1/1:0,299:299:99:9708,896,0	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	1/1:0,225:225:99:6941,675,0	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	1/1:0,197:197:99:5706,591,0	6	6	9	0
chr21	28946227	28946227	C	G	exonic	LTN1	.	nonsynonymous SNV	LTN1:NM_001320766:exon19:c.G3506C:p.G1169A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.002	B	0.002	B	0.884	N	0.808	N	0.345	N	2.32	T	-0.953	T	0.011	T	0.054	-0.870	0.502	0.853	-0.026	0.911	8.364	0.027	.	0.0079	0.0081869	0.0026	0.0293	0.0012	0	0	1.517e-05	0.0011	6.111e-05	0.0023932	370	154602	rs143802793	0.0007	0.0007	0.0008	0.0006	0.0261	0.0007	0.0007	0.0247	0.0241	0.0261	0.0010	0	0	0	0.0007	2.814e-05	0.0016	6.146e-05	0.0077	0.0077	0.0076	0.0078	0.0271	0.0073	0.0072	0.0258	0.0253	0.0271	0	0.0020	0	0	0	0.0034	4.41e-05	0.0038	0.0002	0.97	0.02052	T	0.736	0.05054	T	0.002	0.09854	B	0.002	0.06944	B	0.884279	0.08733	N	0.953736	0.999978	0.18612	N	1.5	0.37844	L	2.32	0.16794	T	-0.26	0.11185	N	0.185	0.20129	-0.9533	0.40398	T	0.011	0.04134	T	10	0.0025445223	0.00039	T	.	.	.	0.027	0.05988	.	.	0.123314135267	0.11883	0.14790753400350715	0.14712	0.259490706141	0.28504	0.246415406466	0.03400	T	0.061171	0.31583	T	-0.686062	0.00044	T	-0.736627	0.04034	T	0.00220206757829625	0.00023	T	0.653735	0.26383	T	0.024922043	0.01374	0.030128375	0.01431	0.024922043	0.01374	0.030128375	0.01431	-2.667	0.07219	T	.	.	0.087	0.12797	B	.;.;.	.;.;.	1.645283	0.20997	15.00	0.14906349691278065	0.00346	0.80685	0.40260	D	AEFBI	0.086309	0.17500	N	-0.693140095314705	0.16216	0.8242105	-0.550453394549577	0.20795	1.12198	0.983848349116598	0.30624	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.0	0.853	0.18139	0.734000	0.25769	1.490000	0.26882	0.549000	0.26987	0.942000	0.32722	1.000000	0.68203	0.905000	0.44082	0.0:0.4953:0.0:0.5047	8.364	0.31539	973	0.05605	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1262.98	34	chr21	28946227	.	C	G	1262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.331;DP=869;ExcessHet=0.0000;FS=1.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=-2.950e-01;SOR=0.564	GT:AD:DP:GQ:PL	0/1:62,55:117:99:1277,0,1485	20	0	1	0
chr21	31995878	31995878	G	C	exonic	HUNK	.	nonsynonymous SNV	HUNK:NM_014586:exon10:c.G1416C:p.M472I,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.0	B	0.214	N	1.000	N	-0.805	N	-0.04	T	-1.035	T	0.053	T	0.1	-2.396	0.003	0.337	-0.133	0.727	9.205	0.071	0.00873615619575	0.0026	0.00139776	0.0007	0.0081	0.0003	0	0	1.504e-05	0.0011	6.073e-05	0.0006533	101	154602	rs138721520	0.0002	0.0002	0.0003	0.0002	0.0080	0.0002	0.0002	0.0072	0.0069	0.0080	0.0003	0	0	0	0.0002	3.597e-06	0.0007	2.319e-05	0.0022	0.0022	0.0024	0.0020	0.0075	0.0020	0.0019	0.0068	0.0065	0.0075	0	0.0012	0	0	0	0	1.47e-05	0.0014	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.214240	0.16292	N	0.591295	0.999994	0.08975	N	-0.55	0.02420	N	-0.04	0.63240	T	0.16	0.05810	N	0.055	0.02658	-1.0350	0.18857	T	0.053	0.22578	T	10	0.002880603	0.00046	T	0.008736	0.23074	T	0.071	0.20720	0.24	0.17218	0.204265027416	0.20035	0.10573156513618052	0.10503	0.0997905954404	0.11272	0.319436997175	0.13335	T	0.023821	0.18113	T	-0.562593	0.00245	T	-0.575916	0.14912	T	0.000451991158907013	0.00004	T	0.623338	0.24021	T	0.071445405	0.15819	0.06721331	0.13876	0.071445405	0.15819	0.06721331	0.13876	-2.388	0.05060	T	.	.	0.083	0.31456	B	.;.	.;.	0.440899	0.08112	4.839	0.33656333664739535	0.02016	0.02076	0.06179	N	AEFBI	0.021004	0.00889	N	-1.40081251671027	0.02632	0.1164904	-1.33930140632295	0.03934	0.1845252	0.0575497442869058	0.15096	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.34	0.337	0.15206	0.759000	0.26127	0.292000	0.16883	-0.820000	0.02968	0.455000	0.26605	0.000000	0.08366	0.040000	0.14268	0.0:0.4763:0.443:0.0807	9.205	0.36446	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2528.98	38	chr21	31995878	.	G	C	2528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.426;DP=924;ExcessHet=0.0000;FS=4.368;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.91;ReadPosRankSum=-8.800e-01;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,65:127:99:0|1:31995875_T_C:2543,0,2397:31995875	20	0	1	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10995.83	42	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	A,*	10995.83	.	AC=12,6;AF=0.333,0.167;AN=36;BaseQRankSum=0.289;DP=1413;ExcessHet=0.4630;FS=5.341;InbreedingCoeff=0.1091;MLEAC=13,7;MLEAF=0.361,0.194;MQ=59.77;MQRankSum=-6.950e-01;QD=17.79;ReadPosRankSum=0.619;SOR=0.413	GT:AD:DP:GQ:PL	0/1:17,21,0:38:99:739,0,525,790,612,1403	5	1	7	3
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|1:0,141,0:141:99:1|1:44558605_G_A:6332,424,0,6332,424,6332:44558605	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|1:0,140,0:140:99:1|1:44558605_G_A:6277,421,0,6277,421,6277:44558605	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	2/2:1,0,351:352:99:15398,15401,15422,1043,1065,0	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	0/1:40,11,0,0:53:99:465,0,1635,419,1680,2058,419,1680,2058,2058	10	0	3	0
chr22	18608797	18608797	C	-	exonic	RIMBP3	.	frameshift deletion	RIMBP3:NM_015672:exon1:c.2638delG:p.E880Sfs*77,	.	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	2.736e-06	0	2.756e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1447.94	36	chr22	18608796	.	TC	T	1447.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.890e-01;DP=1159;ExcessHet=0.0000;FS=3.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.71;MQRankSum=-4.216e+00;QD=4.01;ReadPosRankSum=-1.060e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/1:283,78:361:99:1462,0,8101	20	0	1	0
chr22	18925164	18925164	C	T	exonic	LOC102724788;PRODH	.	stopgain	PRODH:NM_001195226:exon4:c.G230A:p.W77X	.	.	0	1384	130	8	0	146	0.050103	.	.	469889	Schizophrenia_4|Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0010943,MedGen:C1833247,OMIM:600850|MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	0.094	N	0.000	P	.	.	.	.	.	.	.	.	.	1.645	11.46	-6.11	-1.080	-0.210	6.835	.	.	0.0583	0.0563099	0.0400	0.1047	0.0288	0.0276	0.0293	0.0383	0.0453	0.0242	0.0379426	5866	154602	rs11913840	3.785e-05	0.0004	0	6.825e-05	7.066e-05	0	0	.	.	0	0	0	0	0	0	7.066e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094139	0.20188	N	0.520350	1.46935e-18	0.81001	P	.	.	.	.	.	.	.	.	.	0.579	0.60749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.239079	0.15466	T	-0.0293432	0.68412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	3.880428	0.56390	23.7	0.88814784672952418	0.18278	0.05045	0.10832	N	AEFDBI	0.367121	0.45469	N	-0.29800949331419	0.29226	1.618826	-0.742117687753555	0.15916	0.8394609	0.999810399753712	0.43459	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	-6.11	0.01950	-0.056000	0.11744	-3.174000	0.02998	0.525000	0.24333	0.001000	0.13787	0.000000	0.08366	0.057000	0.15750	0.1017:0.1914:0.564:0.1429	6.835	0.23113	929	0.16858	.;.;.;.;.	.	.	.	.	rs11913840	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	1	0	0.04762	4302.11	34	chr22	18925164	.	C	T	4302.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.77;DP=976;ExcessHet=0.1072;FS=3.156;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=0.777;SOR=0.536	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,79:168:99:0|1:18925164_C_T:3049,0,3499:18925164	19	0	2	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R	.	.	0	170	630	722	0	2074	0.859155	.	.	1159081	Proline_dehydrogenase_deficiency	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.094	N	0.999	P	.	.	-0.92	T	-0.991	T	0.000	T	0.068	-1.216	0.065	2.88	0.250	3.683	6.438	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.6905	64105.31	193	chr22	18925165	.	A	G	64105.31	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.553e+00;DP=3080;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.574;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,79:168:99:0|1:18925164_C_T:3049,0,3499:18925164	3	11	7	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	0/1:33,17,0:50:99:561,0,1253,661,1304,1965	15	0	5	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	0/1:90,19:109:99:526,0,3694	5	0	16	0
chr22	28780950	28780950	G	A	exonic	CCDC117	.	nonsynonymous SNV	CCDC117:NM_001284263:exon2:c.G188A:p.C63Y	.	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.002	B	0.008	N	1.000	D	0.895	L	2.42	T	-1.062	T	0.026	T	0.439	2.845	15.48	1.94	0.646	2.402	5.055	0.170	0.0096288700827	.	0.000599042	0.0001	0.0001	0	0	0	0	0	0.0008	0.0001358	21	154602	rs201686312	4.549e-05	4.72e-05	2.055e-05	7.074e-05	0.0006	3.669e-05	3.347e-05	0.0005	0.0004	9.088e-05	0	0	0	0	0.0002	9.953e-06	1.668e-05	0.0006	5.93e-05	5.914e-05	5.152e-05	6.745e-05	0.0004	3.085e-05	2.216e-05	7.315e-05	3.038e-05	7.241e-05	0	0	0	0	0	0.0034	2.944e-05	0.0005	0.0004	0.004	0.68238	D	0.013	0.74150	D	0.0	0.02946	B	0.002	0.06944	B	0.007921	0.31115	N	0.306550	0.873261	0.81001	D	1.04	0.26193	L	2.42	0.15376	T	-6.81	0.93810	D	0.516	0.55280	-1.0616	0.11361	T	0.026	0.11264	T	10	0.035471946	0.02793	T	0.009629	0.25176	T	0.170	0.43303	0.374	0.38667	0.171220215726	0.16700	0.21274423583744814	0.21190	0.0278765352861	0.02857	0.723952531815	0.70623	T	0.24452	0.61366	T	-0.395808	0.02466	T	-0.431683	0.29744	T	0.224271808914086	0.21675	T	0.525248	0.17252	T	0.22379236	0.45008	0.2657548	0.52412	0.22379236	0.45008	0.2657548	0.52411	-3.415	0.26635	T	.	.	0.329	0.55138	B	.;.;.	.;.;.	3.247904	0.44367	21.9	0.98548948360900468	0.42820	0.84212	0.43295	D	AEFBI	0.333081	0.43229	N	-0.433841606683693	0.24290	1.310568	-0.280223252406022	0.28750	1.605422	0.999708958105697	0.41986	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.37	1.94	0.25058	2.473000	0.44803	6.382000	0.55543	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.079:0.1454:0.6251:0.1506	5.055	0.13865	476	0.77720	.;.;.	.	.	.	.	.	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	501.98	33	chr22	28780950	.	G	A	501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.950e-01;DP=745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=-7.610e-01;SOR=0.704	GT:AD:DP:GQ:PL	0/1:29,22:51:99:516,0,723	20	0	1	0
chr22	35658950	35658950	C	T	exonic	APOL6	.	nonsynonymous SNV	APOL6:NM_030641:exon3:c.C386T:p.T129M,	.	.	429	1083	9	1	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.005	B	0.004	B	0.098	N	1.000	N	-0.7	N	3.93	T	-0.956	T	0.006	T	0.099	0.099	4.536	1.99	0.250	0.056	6.309	0.030	0.00173868611002	0.0017	0.000599042	0.0011	0.0003	0.0012	0	0	0.0018	0.0022	0.0001	0.0010284	159	154602	rs148655812	0.0009	0.0009	0.0009	0.0009	0.0035	0.0009	0.0009	0.0023	0.0019	0.0003	0.0016	0.0156	2.52e-05	0	0.0035	0.0006	0.0017	0.0002	0.0011	0.0011	0.0011	0.0010	0.0012	0.0009	0.0009	0.0008	0.0008	0.0001	0	0.0012	0.0179	0	0	0.0034	0.0010	0.0028	0.0002	0.4	0.10482	T	0.475	0.12072	T	0.005	0.12996	B	0.004	0.10090	B	0.098321	0.02523	N	1.875430	1	0.08975	N	-0.75	0.01730	N	3.93	0.03435	T	1.88	0.00467	N	0.039	0.01274	-0.9564	0.39843	T	0.006	0.02131	T	10	0.00320673	0.00054	T	0.001739	0.02934	T	0.030	0.07022	.	.	0.141422826196	0.13715	0.34514354692216964	0.34428	0.170673729105	0.19233	0.270285248756	0.06178	T	0.01532	0.12876	T	-0.654822	0.00068	T	-0.743462	0.03746	T	0.000962655513190271	0.00009	T	0.333467	0.07063	T	0.010551167	0.00008	0.02241543	0.00267	0.010551167	0.00008	0.02241543	0.00266	-3.682	0.19052	T	.	.	0.074	0.05145	B	.	.	0.028372	0.04481	1.194	0.21632141578199093	0.00833	0.00032	0.00291	N	AEFBI	0.021000	0.00888	N	-1.29591003158858	0.03724	0.1668809	-1.25546395137915	0.05050	0.2397411	0.992659981300732	0.32919	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.14	1.99	0.25423	0.576000	0.23446	-0.580000	0.08381	-0.701000	0.04053	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3091:0.0:0.6909	6.309	0.20362	671	0.60868	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3442.11	35	chr22	35658950	.	C	T	3442.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.54;DP=1035;ExcessHet=0.1072;FS=0.489;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.16;ReadPosRankSum=0.316;SOR=0.641	GT:AD:DP:GQ:PL	0/1:49,62:111:99:1793,0,1169	19	0	2	0
chr22	37734652	37734652	C	T	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon9:c.C4316T:p.P1439L,	Deafness, autosomal recessive 28, Autosomal recessive	YES	1	1520	1	0	0	1	0.000328839	.	.	1941593	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.976	D	0.518	P	.	.	1.000	D	0.805	L	1.62	T	-1.082	T	0.074	T	0.301	2.609	14.68	5.4	2.523	0.948	16.094	0.130	0.0239517534765	.	.	2.18e-05	0	0	0	0	4.149e-05	0	0	1.29e-05	2	154602	rs768859839	1.177e-05	1.163e-05	1.238e-05	1.116e-05	0.0002	7.17e-06	5.86e-06	8.16e-06	6.47e-06	0	0	0	0	0	0.0002	1.359e-05	0	1.188e-05	6.574e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.14	0.25664	T	0.219	0.25987	T	0.976	0.58310	D	0.518	0.48133	P	.	.	.	.	0.99998	0.18612	N	1.04	0.26193	L	1.62	0.28189	T	-3.59	0.69236	D	0.137	0.13484	-1.0821	0.06946	T	0.074	0.29865	T	9	0.17012563	0.31657	T	0.023952	0.46930	T	0.130	0.35528	0.204	0.11936	0.496299407791	0.49266	0.10015874422267233	0.09946	0.118913080066	0.13393	0.355625867844	0.18747	T	0.231462	0.59779	T	-0.204719	0.20129	T	-0.531841	0.19103	T	0.446141489747438	0.30655	T	0.535446	0.17943	T	0.071222596	0.15751	0.095082164	0.22533	0.071222596	0.15750	0.095082164	0.22533	-4.115	0.25511	T	.	.	0.097	0.15921	B	.;.	.;.	2.002547	0.25446	16.76	0.99794350850825686	0.88017	0.22072	0.21622	N	AEFDBI	0.105840	0.21136	N	-0.15189327428105	0.35155	2.015641	-0.237652953700816	0.30198	1.698284	0.999999999477792	0.74766	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	5.4	5.4	0.77957	0.390000	0.20494	-0.024000	0.12886	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:1.0:0.0:0.0	16.094	0.80917	911	0.21964	.;.	.	.	.	.	.	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	855.98	38	chr22	37734652	.	C	T	855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.273;DP=836;ExcessHet=0.0000;FS=5.860;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.46;ReadPosRankSum=-8.870e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/1:21,31:52:99:870,0,590	20	0	1	0
chr22	39225814	39225814	G	A	exonic	PDGFB	.	nonsynonymous SNV	PDGFB:NM_002608:exon6:c.C635T:p.T212M	Basal ganglia calcification, idiopathic, 5, Autosomal dominant;Dermatofibrosarcoma protuberans;Meningioma, SIS-related, Autosomal dominant	.	0	1490	30	2	0	34	0.0112807	.	.	512969	Dermatofibrosarcoma_protuberans|not_provided|not_specified	MONDO:MONDO:0011934,MedGen:C3693482,OMIM:607907,Orphanet:31112|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.032	B	0.016	B	0.542	N	0.993	N	0.345	N	0.93	T	-1.039	T	0.046	T	0.135	2.252	13.49	-1.84	0.107	0.554	1.182	0.026	.	0.0037	0.00319489	0.0056	0.0012	0.0017	0	0.0023	0.0060	0.0055	0.0142	0.0054204	838	154602	rs114786489	0.0063	0.0064	0.0061	0.0066	0.0149	0.0062	0.0062	0.0142	0.0139	0.0012	0.0028	0.0033	7.559e-05	0.0025	0.0042	0.0065	0.0054	0.0149	0.0045	0.0045	0.0044	0.0046	0.0139	0.0042	0.0041	0.0112	0.0102	0.0011	0.0263	0.0041	0.0023	0	0.0013	0	0.0066	0.0052	0.0139	0.1	0.30943	T	0.114	0.36765	T	0.007	0.14184	B	0.004	0.10090	B	0.541526	0.11531	N	0.798927	0.99325	0.23746	N	1.265	0.31966	L	0.93	0.44065	T	-0.65	0.18877	N	0.257	0.35088	-1.0386	0.17740	T	0.046	0.19839	T	10	0.00529024	0.00116	T	.	.	.	0.026	0.05648	.	.	0.258436476835	0.25460	0.2997629068538521	0.29889	0.436062898333	0.43710	0.505595207214	0.39608	T	0.449245	0.79081	T	-0.583624	0.00183	T	-0.599435	0.12859	T	0.00691551287233934	0.00078	T	0.686231	0.29475	T	0.015566687	0.00146	0.028410947	0.01075	0.021147769	0.00703	0.037284758	0.03349	-6.104	0.47141	T	.	.	0.082	0.12132	B	.;.	.;.	2.574122	0.33359	19.32	0.97996070975431393	0.37438	0.24263	0.22339	N	AEFBCI	0.069974	0.13873	N	-0.799490138805889	0.13323	0.6555402	-0.704909117050281	0.16839	0.8926379	0.801800370877876	0.24199	0.67177	0.52595	0	0.588066	0.40923	0	0.65145	0.50148	0	0.711	0.71501	0	.	.	5.3	-1.84	0.07387	0.778000	0.26393	0.744000	0.21184	-0.106000	0.15538	0.720000	0.28821	0.125000	0.22942	0.856000	0.40543	0.3325:0.1979:0.3403:0.1293	1.182	0.01734	699	0.57969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2434.11	33	chr22	39225814	.	G	A	2434.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.14;DP=919;ExcessHet=0.1072;FS=1.014;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.70;ReadPosRankSum=1.22;SOR=0.785	GT:AD:DP:GQ:PL	0/1:80,61:141:99:1352,0,2013	19	0	2	0
chr22	41880986	41880986	A	G	exonic	SREBF2	.	nonsynonymous SNV	SREBF2:NM_004599:exon10:c.A2032G:p.I678V,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.068	B	0.024	B	0.000	D	0.998	D	0.69	N	1.73	T	-1.085	T	0.041	T	0.306	1.722	11.72	2.61	0.707	1.972	11.452	0.040	0.0144190608454	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1354329361	1.031e-05	1.026e-05	8.21e-06	1.243e-05	0.0002	6.19e-06	4.91e-06	6.52e-06	5.03e-06	0	0	0	0	0	0.0002	1.169e-05	0	1.16e-05	2.628e-05	2.626e-05	3.854e-05	1.345e-05	6.543e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.543e-05	0	0	0	0	4.41e-05	0	0	0.112	0.28900	T	0.112	0.37037	T	0.068	0.23728	B	0.024	0.20255	B	0.000117	0.50451	D	0.176014	0.998311	0.44758	D	0.49	0.13296	N	1.73	0.26445	T	-0.29	0.11728	N	0.158	0.16447	-1.0852	0.06371	T	0.041	0.17742	T	10	0.0757412	0.11743	T	0.014419	0.34525	T	0.040	0.10527	0.187	0.09646	0.147330786459	0.14319	0.16820316065622065	0.16740	0.145403873013	0.16431	0.494408845901	0.38051	T	0.247725	0.61741	T	-0.17391	0.24645	T	-0.487586	0.23643	T	0.112983047962189	0.13730	T	0.929107	0.73907	D	0.03180651	0.03088	0.06278413	0.12336	0.03180651	0.03087	0.06278413	0.12336	-3.982	0.23533	T	.	.	0.085	0.10304	B	.	.	1.647757	0.21022	15.02	0.98302606232120149	0.40058	0.91861	0.54422	D	AEFBI	0.336566	0.43464	N	-0.356766432589544	0.27025	1.479477	-0.223232343714147	0.30706	1.731165	0.190815860518686	0.17997	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.95	2.61	0.30255	1.978000	0.40221	3.813000	0.39918	0.677000	0.82338	1.000000	0.71638	0.995000	0.32472	0.617000	0.31819	0.5593:0.4407:0.0:0.0	11.452	0.49403	128	0.94857	.	.	.	.	.	.	Uncertain significance	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	1305.98	38	chr22	41880986	.	A	G	1305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.361e+00;DP=873;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=0.607;SOR=0.705	GT:AD:DP:GQ:PL	0/1:51,58:109:99:1320,0,1319	20	0	1	0
chr22	41909797	41909797	T	C	exonic	SHISA8	.	nonsynonymous SNV	SHISA8:NM_001207020:exon4:c.A1162G:p.R388G	.	.	431	1053	37	1	0	39	0.0181818	.	.	2819613	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0052	0	0	0	.	0.0168	0	0.0015	0.0004528	70	154602	rs756893043	0.0011	0.0011	0.0011	0.0012	0.0196	0.0011	0.0011	0.0166	0.0155	0.0012	0.0010	0.0166	0	0	0.0196	0.0007	0.0026	0.0011	0.0012	0.0012	0.0012	0.0012	0.0019	0.0010	0.0010	0.0010	0.0008	0.0003	0.0033	0.0010	0.0158	0	0	0.0204	0.0011	0.0028	0.0019	.	.	.	0.424	0.13953	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.17140	.	.	.	.	.	.	.	0.008136481	0.00185	T	.	.	.	.	.	.	.	0.631991100555	0.62898	0.1294892711660731	0.12873	.	.	0.441900193691	0.30837	T	.	.	.	-0.308221	0.07906	T	-0.271863	0.47630	T	.	.	.	0.50265	0.15781	T	0.33455953	0.55842	0.341038	0.59848	0.33455953	0.55842	0.341038	0.59848	-4.31	0.28316	T	.	.	0.108	0.20313	B	.	.	2.696450	0.35208	19.84	0.64420621177009363	0.07489	0.14849	0.18617	N	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.999979861925652	0.50053	0.256391	0.04301	0	0.274575	0.05135	0	0.183864	0.04481	0	0.109499	0.03221	0	0.145135	0.27050	3.8	2.63	0.30420	1.037000	0.29850	1.412000	0.26289	0.659000	0.54702	0.775000	0.29414	0.999000	0.35428	0.889000	0.42754	0.2262:0.1233:0.0:0.6505	2.706	0.04843	131	0.94738	.	.	.	.	.	.	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	1036.98	36	chr22	41909797	.	T	C	1036.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.230e-01;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=0.365;SOR=0.682	GT:AD:DP:GQ:PL	0/1:37,44:81:99:1051,0,897	20	0	1	0
chr22	41972349	41972349	C	A	exonic	SEPTIN3	.	nonsynonymous SNV	SEPTIN3:NM_001363845:exon2:c.C857A:p.P286Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083120495	0.13792	T	.	.	.	.	.	.	.	.	.	0.016256031403246652	0.01581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207779	0.02478	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.28290	B	.	.	0.518595	0.08874	5.653	0.70870711652048324	0.09438	0.03130	0.08080	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.790996996020246	0.24015	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.058706	0.01089	0	0.179087	0.29407	3.85	1.62	0.22817	0.191000	0.16883	-0.178000	0.11160	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.420000	0.27228	0.2335:0.6523:0.0:0.1141	4.748	0.12423	124	0.95048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	38.53	55	chr22	41972349	.	C	A	38.53	.	AC=2;AF=0.100;AN=20;DP=55;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3360;MLEAC=2;MLEAF=0.100;MQ=60.00;QD=19.27;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	9	1	0	11
chr22	42086248	42086248	G	A	exonic	NDUFA6	.	nonsynonymous SNV	NDUFA6:NM_002490:exon3:c.C322T:p.H108Y,	.	.	414	1070	37	1	0	39	0.0178981	.	.	215603	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.008	B	0.004	B	0.000	D	1.000	D	2.3	M	-0.11	T	-0.739	T	0.220	T	0.53	3.474	17.78	6.17	2.941	5.464	20.474	0.182	0.00650887435971	0.0036	0.00339457	0.0028	0.0074	0.0017	0	0	0.0034	0.0077	0.0008	0.0026261	406	154602	rs113437301	0.0017	0.0017	0.0017	0.0018	0.0199	0.0017	0.0016	0.0170	0.0159	0.0079	0.0021	0.0307	0	0	0.0199	0.0008	0.0046	0.0011	0.0037	0.0037	0.0038	0.0037	0.0073	0.0034	0.0033	0.0067	0.0064	0.0073	0.0033	0.0037	0.0288	0	0	0.0238	0.0011	0.0052	0.0019	.	.	.	0.115	0.36630	T	.	.	.	.	.	.	0.000001	0.62929	D	0.131299	0.999274	0.46519	D	.	.	.	.	.	.	.	.	.	0.179	0.23125	-0.7386	0.58524	T	0.220	0.58253	T	10	0.007718563	0.00175	T	0.006509	0.17157	T	0.182	0.45420	.	.	0.215869574891	0.21205	0.7120836117721743	0.71150	0.240868912627	0.26625	0.622457921505	0.56076	T	0.035167	0.23613	T	-0.316477	0.07190	T	-0.223508	0.52398	T	0.0155966509877632	0.00356	T	.	.	.	0.4964389	0.66885	0.66959906	0.80617	0.7058119	0.78377	0.63814104	0.78868	-6.719	0.51954	T	.	.	0.149	0.38263	B	.;.;.	.;.;.	3.598522	0.50813	23.0	0.99581292421025602	0.73040	0.93725	0.59013	D	AEFDBCIJ	0.748094	0.68995	D	0.270511061285913	0.54660	3.631111	0.44168999425464	0.64186	4.667936	0.999999466425253	0.74766	0.741895	0.98168	0	0.702456	0.74545	0	0.702456	0.68683	0	0.725737	0.93299	0	.	.	6.17	6.17	0.99707	5.603000	0.67304	9.943000	0.82671	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.474	0.99171	108	0.95573	.;.;.	.	.	.	.	.	Likely benign	0	0	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	792.98	34	chr22	42086248	.	G	A	792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.299e+00;DP=786;ExcessHet=0.0000;FS=1.849;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=2.28;SOR=0.493	GT:AD:DP:GQ:PL	0/1:45,35:80:99:807,0,1255	20	0	1	0
chr22	42141910	42141910	T	G	exonic	CYP2D7	.	unknown	UNKNOWN,	.	.	1	1466	53	2	0	57	0.0190699	.	.	2819621	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0058	0.0063	0.0031	0.0011	0.0002	0.0045	0.0087	0.0159	0.0037322	577	154602	rs199515619	0.0022	0.0024	0.0022	0.0023	0.0202	0.0022	0.0022	0.0172	0.0161	0.0071	0.0027	0.0317	0.0068	0.0004	0.0202	0.0011	0.0046	0.0028	0.0036	0.0037	0.0035	0.0037	0.0059	0.0034	0.0033	0.0053	0.0050	0.0059	0.0033	0.0039	0.0306	0.0016	0.0005	0.0238	0.0013	0.0043	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1318.98	83	chr22	42141910	.	T	G	1318.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=1577;ExcessHet=0.0000;FS=4.051;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.54;MQRankSum=-9.634e+00;QD=10.22;ReadPosRankSum=3.97;SOR=0.522	GT:AD:DP:GQ:PL	0/1:78,51:129:99:1333,0,2077	20	0	1	0
chr22	46695216	46695216	C	T	exonic	CERK	.	nonsynonymous SNV	CERK:NM_022766:exon9:c.G1043A:p.R348Q,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.983	D	0.65	P	0.033	N	0.659	D	2.67	M	1.0	T	-0.772	T	0.146	T	0.426	3.687	18.73	2.58	0.957	1.879	5.152	0.269	0.0150940513391	0.0005	0.000399361	0.0003	0	8.684e-05	0	0	0.0003	0	0.0010	0.0002781	43	154602	rs148368178	0.0004	0.0004	0.0004	0.0004	0.0013	0.0004	0.0004	0.0011	0.0010	9.317e-05	4.595e-05	0	0	3.767e-05	0.0005	0.0004	0.0003	0.0013	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0010	0.0007	4.808e-05	0	0	0	0	0	0	0.0004	0	0.0019	0.072	0.34982	T	0.262	0.22895	T	0.983	0.60381	D	0.65	0.52463	P	0.033329	0.24912	N	0.388364	0.53745	0.33031	D	2.925	0.84406	M	1.0	0.41392	T	-2.24	0.50175	N	0.381	0.42247	-0.7719	0.56753	T	0.146	0.47074	T	10	0.08953524	0.15517	T	0.015094	0.35618	T	0.269	0.58381	.	.	0.461058313273	0.45730	0.7479532455753046	0.74741	0.699819188154	0.61061	0.485747605562	0.36850	T	0.192615	0.54782	T	-0.362914	0.03968	T	-0.354675	0.38668	T	0.175761118531227	0.18964	T	0.772323	0.40326	T	0.097747356	0.23045	0.08128714	0.18460	0.097747356	0.23045	0.08128714	0.18460	-7.24	0.55768	T	.	.	0.085	0.09965	B	.	.	4.388563	0.67704	25.1	0.99925871602022598	0.99042	0.80782	0.40333	D	AEFGBI	0.101449	0.20376	N	0.292843646528596	0.55786	3.742638	0.224362682949448	0.51203	3.304853	0.363654689718973	0.19802	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.68	2.58	0.30011	1.926000	0.39715	2.447000	0.32796	0.599000	0.40250	1.000000	0.71638	0.988000	0.31051	0.755000	0.35964	0.0:0.6363:0.1736:0.1902	5.152	0.14346	698	0.58074	.	.	.	.	.	.	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	2095.98	36	chr22	46695216	.	C	T	2095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.695;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=0.227;SOR=0.654	GT:AD:DP:GQ:PL	0/1:91,87:178:99:2110,0,2134	20	0	1	0
chr22	49922288	49922325	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	0	exonic	CRELD2	.	.	.	.	.	435	791	175	16	105	312	0.115707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	9259.9	36	chr22	49922288	.	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	C,*	9259.9	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=1.32;DP=1395;ExcessHet=0.0303;FS=0.551;InbreedingCoeff=0.3824;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=16.13;ReadPosRankSum=-6.650e-01;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:49,0,32:81:99:.:.:1198,1345,3396,0,2051,1953	15	1	2	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	17831.26	36	chr22	49922304	.	C	T,*	17831.26	.	AC=10,8;AF=0.238,0.190;AN=42;BaseQRankSum=2.03;DP=1611;ExcessHet=1.2156;FS=0.561;InbreedingCoeff=0.0278;MLEAC=10,8;MLEAF=0.238,0.190;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.644;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:49,0,32:81:99:.:.:1198,1345,3396,0,2051,1953	7	1	7	0
chr22	49922325	49922325	G	0	exonic	CRELD2	.	.	.	.	.	441	818	50	1	212	264	0.0308057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1933.0	36	chr22	49922325	.	G	C,*	1933.0	.	AC=1,7;AF=0.025,0.175;AN=40;BaseQRankSum=1.19;DP=1482;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3872;MLEAC=1,7;MLEAF=0.025,0.175;MQ=60.00;MQRankSum=0.00;QD=3.70;ReadPosRankSum=1.36;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:49,0,32:81:99:.:.:1198,1345,3396,0,2051,1953	14	0	1	1
chrX	6533983	6533983	C	G	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G323C:p.S108T,	.	.	474	1037	10	0	1	11	0.00479846	.	.	3345516	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.31	T	0.006	B	0.002	B	.	.	1.000	N	-1.245	N	2.54	T	-0.991	T	0.009	T	0.118	-4.290	0.001	-1.25	-3.647	-3.761	.	0.010	0.00182571788681	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	rs5934293	0.0011	0.0052	0.0014	0.0005	0.0018	0.0010	0.0010	0.0015	0.0014	0.0005	0.0004	0.0014	0.0006	0.0042	0.0007	0.0009	0.0014	0.0018	0.0034	0.0065	0.0045	8.287e-05	0.0045	0.0031	0.0030	0.0040	0.0038	0.0019	0.0018	0.0015	0.0034	0.0006	0.0055	0	0.0045	0.0072	0.0031	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.095	0.01012	N	2.54	0.13916	T	0.01	0.06868	N	0.044	0.04547	-0.9909	0.32373	T	0.009	0.03011	T	8	0.039732605	0.02486	T	0.001826	0.03141	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.0034495201937485395	0.00321	0.244494998227	0.26952	0.474164128304	0.35253	T	0.001284	0.00766	T	-0.700758	0.00036	T	-1.04605	0.00070	T	0.0141886371471757	0.00279	T	0.183882	0.07415	T	0.13442245	0.31232	0.12706026	0.30592	0.13442245	0.31231	0.12706026	0.30591	-6.853	0.52952	T	.	.	0.066	0.02091	B	.;.;.	.;.;.	-0.678766	0.01370	0.078	0.038113215993917184	0.00001	0.00065	0.00468	N	AEFGI	.	.	.	.	.	.	.	.	.	0.182817759356452	0.17895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.627	-1.25	0.08920	-1.883000	0.01715	-1.322000	0.05720	-1.492000	0.01043	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	237.85	89	chrX	6533983	.	C	G	237.85	.	AC=2;AF=0.050;AN=40;BaseQRankSum=0.00;DP=1016;ExcessHet=0.1072;FS=1.451;InbreedingCoeff=-0.0649;MLEAC=2;MLEAF=0.050;MQ=34.92;MQRankSum=0.079;QD=3.26;ReadPosRankSum=0.039;SOR=1.092	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,8:45:99:0|1:6533983_C_G:208,0,1528:6533983	18	0	2	1
chrX	6533984	6533984	T	C	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.A322G:p.S108G,	.	.	476	1036	10	0	0	10	0.00480307	.	.	3345515	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.478	P	0.041	B	.	.	1.000	N	0.345	N	2.17	T	-1.025	T	0.023	T	0.162	0.903	8.674	0.627	0.449	-0.055	.	0.026	0.00232243021554	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1253466082	0.0011	0.0052	0.0014	0.0004	0.0019	0.0010	0.0010	0.0015	0.0014	0.0005	0.0004	0.0016	0.0006	0.0043	0.0004	0.0009	0.0014	0.0019	0.0035	0.0067	0.0047	8.401e-05	0.0046	0.0032	0.0031	0.0041	0.0039	0.0019	0.0018	0.0014	0.0039	0.0006	0.0054	0	0.0046	0.0073	0.0031	0.064	0.63226	T	0.215	0.72224	T	0.478	0.36706	P	0.041	0.23986	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	2.17	0.19020	T	-1.63	0.42384	N	0.035	0.04547	-1.0248	0.22148	T	0.023	0.09923	T	8	0.08369303	0.13950	T	0.002322	0.04479	T	0.026	0.05648	.	.	0.043077524339	0.03247	0.0030667818329098142	0.00285	0.245572161414	0.27083	0.443225979805	0.31018	T	0.010668	0.09610	T	-0.533123	0.00368	T	-0.805928	0.01759	T	0.0407642605737014	0.03829	T	0.419858	0.23413	T	0.12491072	0.29294	0.1832876	0.41309	0.12491072	0.29294	0.1832876	0.41309	-8.754	0.66099	D	.	.	0.119	0.24430	B	.;.;.	.;.;.	1.560404	0.19987	14.54	0.66433449472753969	0.08058	0.00298	0.01590	N	AEFGI	.	.	.	.	.	.	.	.	.	6.46148542054851E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.627	0.627	0.16848	0.114000	0.15353	-1.444000	0.05425	0.188000	0.17839	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	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	0.05	237.85	89	chrX	6533984	.	T	C	237.85	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-1.815e+00;DP=1013;ExcessHet=0.1072;FS=1.451;InbreedingCoeff=-0.0649;MLEAC=2;MLEAF=0.050;MQ=35.00;MQRankSum=0.079;QD=3.26;ReadPosRankSum=0.111;SOR=1.092	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,8:45:99:0|1:6533983_C_G:208,0,1528:6533983	18	0	2	1
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	1/1:0,48,0,0:48:99:.:.:1514,144,0,1514,144,1514,1514,144,1514,1514	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	1/1:0,48,0,0:48:99:.:.:1514,144,0,1514,144,1514,1514,144,1514,1514	0	8	6	4
chrX	10117468	10117468	C	T	exonic	WWC3	.	nonsynonymous SNV	WWC3:NM_015691:exon11:c.C1409T:p.T470M,	.	.	400	1120	1	1	0	3	0.00133749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.999	D	0.002	N	1.000	D	1.645	L	3.42	T	-1.185	T	0.052	T	0.711	3.553	18.12	5.43	2.303	7.248	18.464	0.292	0.0770400133877	.	.	1.486e-05	0	0	0	0	2.771e-05	0	0	6.5e-06	1	154602	rs765649211	1.556e-05	1.548e-05	1.636e-05	1.391e-05	6.664e-05	9.48e-06	7.75e-06	1.103e-05	6.02e-06	3.802e-05	0	0	6.664e-05	0	0	1.429e-05	0	3.723e-05	8.836e-06	8.696e-06	1.284e-05	0	0.0003	0	0	.	.	0	0	0	0	0.0003	0	0	0	0	0	0.046	0.40573	D	0.089	0.40426	T	1.0	0.90584	D	0.999	0.92359	D	0.001604	0.38497	N	0.283366	0.999999	0.58761	D	2.675	0.78361	M	3.42	0.05507	T	-1.92	0.44657	N	0.736	0.73645	-1.1853	0.00297	T	0.052	0.21960	T	10	0.6140379	0.67605	D	0.07704	0.72676	D	0.292	0.61157	0.123	0.02942	0.29893580763	0.29502	0.6007675891983641	0.60007	1.08290478472	0.77186	0.699892401695	0.67128	T	0.007417	0.06827	T	-0.0232532	0.48388	T	-0.271178	0.47701	T	0.815320353319512	0.47428	D	0.943706	0.78720	D	0.10321376	0.24395	0.25681522	0.51387	0.10321376	0.24395	0.25681522	0.51386	-8.558	0.64812	D	.	.	0.202	0.42592	B	.	.	4.085176	0.60795	24.3	0.99867122392064556	0.94547	0.99554	0.97383	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999999984	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.43	5.43	0.79006	7.328000	0.78426	7.517000	0.59705	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.356000	0.25796	0.0:1.0:0.0:0.0	18.464	0.90696	778	0.48011	.	.	.	.	.	.	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	1318.08	56	chrX	10117468	.	C	T	1318.08	.	AC=2;AF=0.048;AN=42;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.09;SOR=1.121	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1346,111,0	20	1	0	0
chrX	45069832	45069832	C	T	exonic	KDM6A	.	nonsynonymous SNV	KDM6A:NM_001291418:exon15:c.C1940T:p.T647M	Kabuki syndrome 2, X-linked dominant	.	1	1240	187	92	2	373	0.13013	.	.	380059	not_specified|Kabuki_syndrome_2|not_provided	MedGen:CN169374|MONDO:MONDO:0010465,MedGen:C3275495,OMIM:300867,Orphanet:2322|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.646	P	0.097	B	0.209	N	1.000	P	0	N	0.76	T	-1.067	T	0.055	T	0.202	0.353	5.916	-2.48	-0.616	-0.793	15.541	0.062	0.153986145614	.	.	0.0002	0	0.0006	0	0	0.0002	0	0.0002	0.0001423	22	154602	rs2230018	0.0003	0.0003	0.0002	0.0003	0.0012	0.0002	0.0002	0.0005	0.0003	0	0.0003	5.159e-05	9.944e-05	0	0.0012	0.0003	0.0003	0.0005	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0001	0.0002	0.0002	3.259e-05	0	9.522e-05	0	0	0	0	0.0003	0.0007	0.0008	0.139	0.25768	T	0.09	0.40267	T	0.646	0.40549	P	0.097	0.30390	B	0.208580	0.16421	N	0.640382	0.999966	0.18878	P	0.345	0.11182	N	0.76	0.49919	T	0.81	0.01839	N	0.052	0.15187	-1.0668	0.10131	T	0.055	0.23110	T	9	0.03868887	0.02304	T	0.153986	0.83517	D	0.062	0.17934	.	.	0.193917141947	0.19028	0.24952797713721842	0.24866	0.11190476299	0.12625	0.237911581993	0.02605	T	0.015006	0.34128	T	-0.617003	0.00115	T	-0.779121	0.02480	T	0.0065993512139926	0.00074	T	0.863414	0.55914	D	0.040850677	0.05909	0.09863973	0.23522	0.053731814	0.10210	0.1197753	0.28907	-5.446	0.41359	T	0.1269424636613506	0.12910	0.068	0.03093	B	.;.;.;.;.	.;.;.;.;.	-1.081137	0.00663	0.018	0.8421640515683424	0.15163	0.07799	0.13795	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999952254868068	0.48110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.82	-2.48	0.06052	-0.985000	0.03861	-4.604000	0.02073	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.943000	0.48514	0.0:0.7711:0.0:0.2289	15.541	0.75790	611	0.66908	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.2381	28040.68	33	chrX	45069832	.	C	A,T	28040.68	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=4.41;DP=1938;ExcessHet=0.0097;FS=0.544;InbreedingCoeff=0.4750;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=19.89;ReadPosRankSum=-1.040e-01;SOR=0.755	GT:AD:DP:GQ:PL	1/1:0,124,0:124:99:4417,372,0,4417,372,4417	14	3	3	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	1/1:40,693:733:99:22946,949,0	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	0/1:517,240:757:99:4948,0,14260	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	0/1:493,212:705:99:4937,0,14866	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	0/1:431,164:595:99:3953,0,14021	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	0/1:70,483:553:99:16538,0,432	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|1:310,102:412:99:0|1:55146247_G_C:3109,0,12467:55146247	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|1:296,92,0:388:99:0|1:55146247_G_C:2881,0,12054,3772,12331,16103:55146247	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	0/1:155,217:372:99:6589,0,5576	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|1:287,86:373:99:0|1:55146247_G_C:2747,0,11792:55146247	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|1:287,86,0:373:99:0|1:55146247_G_C:2747,0,11792,3611,12051,15662:55146247	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|1:287,86,0:373:99:0|1:55146247_G_C:2747,0,11792,3611,12051,15662:55146247	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	0/1:63,204:267:99:7131,0,1831	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	0/1:183,40:223:99:512,0,5874	5	0	15	1
chrX	67545334	67545334	-	GCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCA:p.Q80_E81insQ	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	1/1:0,2,0,0,0,0,0:2:6:70,6,0,70,6,70,70,6,70,70,70,6,70,70,70,70,6,70,70,70,70,70,6,70,70,70,70,70	5	3	1	1
chrX	67545326	67545334	GCAGCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.180_188del:p.Q78_Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	1/1:0,2,0,0,0,0,0:2:6:70,6,0,70,6,70,70,6,70,70,70,6,70,70,70,70,6,70,70,70,70,70,6,70,70,70,70,70	5	3	1	1
chrX	67545332	67545334	GCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.186_188del:p.Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	1/1:0,2,0,0,0,0,0:2:6:70,6,0,70,6,70,70,6,70,70,70,6,70,70,70,70,6,70,70,70,70,70,6,70,70,70,70,70	5	3	1	1
chrX	67545329	67545334	GCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.183_188del:p.Q79_Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	1/1:0,2,0,0,0,0,0:2:6:70,6,0,70,6,70,70,6,70,70,70,6,70,70,70,70,6,70,70,70,70,70,6,70,70,70,70,70	5	3	1	1
chrX	67545334	67545334	-	GCAGCAGCAGCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCAGCAGCAGCA:p.Q80_E81insQQQQ	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	1/1:0,2,0,0,0,0,0:2:6:70,6,0,70,6,70,70,6,70,70,70,6,70,70,70,70,6,70,70,70,70,70,6,70,70,70,70,70	5	3	1	1
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	.	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.0	B	0.264	N	0.950	D	1.545	L	3.03	T	-1.071	T	0.025	T	0.431	0.577	7.117	4.55	1.072	2.664	13.469	0.132	0.00392722355489	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0005	3.84e-05	1	26028	rs200629905	9.112e-07	2.732e-06	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	1.841e-05	0.0001	2.588e-05	0	3.351e-05	3.06e-06	1.15e-06	.	.	3.351e-05	0	0	0	0	0	0	1.925e-05	0	0	0.42	0.09836	T	0.382	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.264373	0.15251	N	0.666655	0.949983	0.37675	D	0.75	0.19020	N	3.03	0.08898	T	-0.73	0.20576	N	0.123	0.11483	-1.0706	0.09282	T	0.025	0.10598	T	10	0.013200998	0.00281	T	0.003927	0.09274	T	0.132	0.35948	.	.	0.474660930215	0.47096	0.4159198749435835	0.41507	0.659223824986	0.58794	0.605702996254	0.53710	T	0.099372	0.40412	T	-0.300593	0.08604	T	-0.669557	0.07637	T	0.123469986021519	0.14766	T	0.649135	0.25986	T	0.103400156	0.24439	0.122803114	0.29618	0.103400156	0.24438	0.122803114	0.29617	-7.457	0.57308	T	0.06091627704634275	0.01704	0.072	0.04198	B	.;.	.;.	1.715856	0.21849	15.37	0.81488155183217736	0.13710	0.91941	0.54595	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999021295674977	0.38237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.55	0.55429	2.957000	0.48830	4.344000	0.43067	-0.113000	0.14837	0.998000	0.41325	1.000000	0.68203	0.948000	0.49324	0.0772:0.0:0.9228:0.0	13.469	0.60726	99	0.95913	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	280.42	34	chrX	74591813	.	G	A	280.42	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-2.189e+00;DP=1340;ExcessHet=1.1607;FS=0.872;InbreedingCoeff=-0.1196;MLEAC=3;MLEAF=0.071;MQ=58.73;MQRankSum=-7.437e+00;QD=0.60;ReadPosRankSum=-3.262e+00;SOR=0.852	GT:AD:DP:GQ:PL	0/1:63,9:72:50:50,0,2213	16	0	5	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|1:198,22:220:99:0|1:74591902_T_A:328,0,8207:74591902	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|1:226,19:245:99:0|1:74591902_T_A:118,0,9408:74591902	15	0	6	0
chrX	91878891	91878891	A	C	exonic	PCDH11X	.	nonsynonymous SNV	PCDH11X:NM_001168360:exon2:c.A2651C:p.N884T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.917	D	0.000	D	0.998	D	1.79	L	1.42	T	-0.877	T	0.153	T	0.466	1.955	12.49	5.16	1.706	8.621	13.187	0.266	0.118524091611	.	.	1.14e-05	0	0	0	0	2.085e-05	0	0	3.84e-05	1	26028	rs780054211	4.553e-06	4.553e-06	2.723e-06	8.252e-06	3.563e-06	1.33e-06	9.7e-07	9.5e-07	2.6e-07	0	0	0	0	0	0	3.563e-06	4.34e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.004	0.74150	D	0.994	0.67487	D	0.864	0.65306	P	0.000000	0.84330	D	0.000000	0.997739	0.44143	D	2.495	0.72670	M	1.42	0.33189	T	-1.71	0.41239	N	0.51	0.61849	-0.8770	0.49997	T	0.153	0.48205	T	10	0.6541927	0.69777	D	0.118524	0.79859	D	0.266	0.57999	0.61	0.74300	0.786371371157	0.78439	0.45754749498961567	0.45672	2.2311931778	0.95933	0.528963983059	0.42888	T	0.033571	0.22968	T	-0.10016	0.36398	T	-0.381649	0.35528	T	0.955132842063904	0.64433	D	0.936306	0.76101	D	0.52184224	0.68365	0.43706784	0.67138	0.52184224	0.68366	0.43706784	0.67138	-9.294	0.73726	D	.	.	0.218	0.46915	B	.;.;.;.;.;.	.;.;.;.;.;.	2.533439	0.32760	19.14	0.99455982469437143	0.65530	0.98603	0.84589	D	AEFI	.	.	.	.	.	.	.	.	.	0.951290107565289	0.27948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.16	5.16	0.70563	8.660000	0.90867	9.034000	0.78599	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.752000	0.35857	1.0:0.0:0.0:0.0	13.187	0.59107	974	0.05496	.;Protocadherin;.;.;.;.	.	.	.	.	.	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	6688.08	33	chrX	91878891	.	A	C	6688.08	.	AC=2;AF=0.048;AN=42;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.14;QD=34.83;SOR=0.779	GT:AD:DP:GQ:PL	1/1:0,192:192:99:6716,577,0	20	1	0	0
chrX	124384356	124384356	T	A	exonic	TENM1	.	nonsynonymous SNV	TENM1:NM_014253:exon29:c.A6554T:p.H2185L	.	.	432	1077	7	6	0	19	0.00874367	.	.	717627	TENM1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.66	T	0.007	B	0.007	B	0.000	D	1.000	D	-0.255	N	-1.98	D	-0.665	T	0.236	T	0.333	3.029	16.11	5.52	1.843	4.207	14.665	0.299	.	0.0070	0.00370861	0.0058	0.0016	0.0020	0	0.0055	0.0090	0.0016	0.0019	0.0057179	884	154602	rs144335593	0.0086	0.0086	0.0087	0.0084	0.0101	0.0084	0.0084	0.0099	0.0098	0.0009	0.0030	0.0011	3.311e-05	0.0055	0.0094	0.0101	0.0075	0.0033	0.0059	0.0060	0.0061	0.0054	0.0091	0.0055	0.0054	0.0084	0.0081	0.0014	0.0088	0.0070	0.0004	0	0.0059	0.0092	0.0091	0.0033	0.0035	0.507	0.07670	T	0.156	0.31833	T	0.001	0.07471	B	0.002	0.06944	B	0.000008	0.62929	D	0.108661	0.999998	0.58761	D	0.46	0.12951	N	-2.01	0.85468	D	-2.89	0.60665	D	0.164	0.17278	-0.6654	0.62036	T	0.236	0.60355	T	10	0.008212984	0.00186	T	.	.	.	0.299	0.61955	.	.	0.544770947229	0.54130	0.5100138418175805	0.50923	0.603150604402	0.55300	0.816038012505	0.84420	D	0.051388	0.28865	T	-0.35922	0.04175	T	-0.278383	0.46969	T	0.0106961061740077	0.00150	T	0.868113	0.56980	D	0.3963837	0.60481	0.35569715	0.61093	0.3963837	0.60481	0.35569715	0.61092	-3.637	0.18393	T	.	.	0.083	0.09239	B	.;.	.;.	2.342220	0.30018	18.31	0.96627177539642872	0.30502	0.86943	0.46340	D	AEFI	.	.	.	.	.	.	.	.	.	0.99999703942372	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.52	5.52	0.82153	4.209000	0.58291	2.965000	0.35773	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.665	0.68511	974	0.05496	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2676.08	34	chrX	124384356	.	T	A	2676.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.780e-01;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=30.07;ReadPosRankSum=-1.168e+00;SOR=0.356	GT:AD:DP:GQ:PL	1/1:1,88:89:99:2704,226,0	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	0/1:23,14:43:34:34,0,393	5	0	16	0
chrX	139537098	139537098	C	A	exonic	F9	.	nonsynonymous SNV	F9:NM_000133:exon2:c.C177A:p.N59K	Hemophilia B, X-linked recessive;Thrombophilia, X-linked, due to factor IX defect	.	.	.	.	.	.	.	.	.	.	982276	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.335	M	-5.51	D	1.091	D	0.976	D	0.438	3.118	16.42	3.43	0.415	0.328	9.214	0.891	0.666558300786	9.5e-05	.	3.432e-05	0	0	0	0	4.177e-05	0.0016	0	2.59e-05	4	154602	rs139089559	1.914e-05	1.912e-05	2.315e-05	1.103e-05	0.0001	1.23e-05	1.044e-05	3.013e-05	1.635e-05	0.0001	0	0	3.319e-05	4.935e-05	0	1.664e-05	0	1.85e-05	2.68e-05	2.614e-05	3.857e-05	0	6.491e-05	7.12e-06	2.98e-06	1.075e-05	4.02e-06	6.491e-05	0	0	0	0	0	0	1.88e-05	0	0	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999981	0.54805	D	3.6	0.93737	H	-5.51	0.99156	D	-4.4	0.78388	D	0.74	0.74007	1.091	0.99267	D	0.976	0.99241	D	10	0.9503498	0.94369	D	0.666558	0.97210	D	0.891	0.96873	0.796	0.91657	0.981983838483	0.98179	0.9961364674261466	0.99611	0.458922690913	0.45492	0.616031706333	0.55167	T	0.965093	0.99577	D	0.0856872	0.62700	D	0.077643	0.75421	D	0.956570446491241	0.64792	D	0.817418	0.47426	T	0.9775006	0.98913	0.9149807	0.96043	0.9775006	0.98913	0.9149807	0.96044	-10.025	0.74734	D	.	.	0.709	0.78898	P	.;.	.;.	2.437603	0.31368	18.72	0.99679912991645658	0.79174	0.85217	0.44330	D	AEFGI	.	.	.	.	.	.	.	.	.	0.00688624766540365	0.11333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.19	3.43	0.38372	0.028000	0.13533	-0.714000	0.07736	-0.813000	0.03045	0.873000	0.30851	0.007000	0.19602	0.975000	0.56047	0.0:0.8163:0.0:0.1837	9.214	0.36498	924	0.18029	Gamma-carboxyglutamic acid-rich (GLA) domain|Gamma-carboxyglutamic acid-rich (GLA) domain|Gamma-carboxyglutamic acid-rich (GLA) domain|Gamma-carboxyglutamic acid-rich (GLA) 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	0.04762	1265.08	35	chrX	139537098	.	C	A	1265.08	.	AC=2;AF=0.048;AN=42;DP=713;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.42;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1293,129,0	20	1	0	0
chrX	154532990	154532990	C	T	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon9:c.G1093A:p.A365T	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	YES	0	1498	15	9	0	33	0.0108947	.	.	25402	not_specified|Malaria,_susceptibility_to|not_provided|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|Inborn_genetic_diseases|G6PD_CHATHAM	MedGen:CN169374|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|MedGen:C3661900|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	0	D	0.985	D	0.632	P	0.000	D	0.999	D	2.07	M	-4.86	D	1.016	D	0.924	D	0.838	3.174	16.62	5.77	2.428	0.512	11.968	0.609	0.640463473904	9.5e-05	.	0.0002	0	0.0001	0.0002	0	0.0001	0.0016	0.0007	0.0001811	28	154602	rs5030869	0.0001	0.0001	9.529e-05	0.0002	0.0022	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0.0022	3.563e-05	0.0004	0.0017	7.98e-05	7.825e-05	7.708e-05	8.587e-05	0.0018	4.146e-05	3.011e-05	0.0007	0.0005	0	0	0	0	0	0	0	7.524e-05	0	0.0018	0.003	0.68238	D	0.009	0.70582	D	0.961	0.55431	D	0.632	0.51815	P	0.000000	0.84330	D	0.000000	0.999204	0.46326	D	1.83	0.48079	L	-4.86	0.98263	D	-0.84	0.22944	N	0.512	0.54322	1.016	0.97462	D	0.924	0.97493	D	10	0.2626309	0.43733	T	0.640463	0.96934	D	0.609	0.84666	.	.	0.992300379967	0.99221	0.8653505156550084	0.86500	1.81731878846	0.91879	0.608502745628	0.54105	T	0.753592	0.93267	D	0.170001	0.71124	D	0.430885	0.93071	D	0.076977080891245	0.09596	T	0.884712	0.60854	D	0.8069284	0.84352	0.7171555	0.83304	0.8257544	0.85611	0.75738084	0.85663	-7.3	0.56622	T	0.3153788254411631	0.41341	0.298	0.63352	B	.;.;.;.;.	.;.;.;.;.	2.540493	0.32863	19.17	0.99848937268831928	0.92838	0.45951	0.27652	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999456961947	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.77	5.77	0.91077	0.969000	0.28967	3.211000	0.36801	0.581000	0.30040	0.460000	0.26644	0.997000	0.33255	0.179000	0.21265	0.0:0.83:0.17:0.0	11.968	0.52337	80	0.96670	Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal;.;Glucose-6-phosphate dehydrogenase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	7571.88	38	chrX	154532990	.	C	T	7571.88	.	AC=4;AF=0.095;AN=42;DP=974;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=4;MLEAF=0.095;MQ=60.00;QD=31.03;SOR=1.010	GT:AD:DP:GQ:PL	1/1:0,120:120:99:3620,359,0	19	2	0	0
chrY	9529058	9529063	GAAGAT	-	exonic	TSPY10;TSPY3	.	nonframeshift deletion	TSPY3:NM_001077697:exon2:c.526_531del:p.E178_D179del	.	.	1124	375	23	0	0	23	0.0297542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	3.84e-05	1	26028	rs775696224	0.0001	0.0003	.	0.0001	0.0003	7.81e-05	6.801e-05	7.556e-05	6.341e-05	0.0002	0.0003	0	0	0	0	0.0001	0.0003	7.071e-05	0	0.0008	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	374.89	185	chrY	9529057	.	CGAAGAT	C	374.89	.	AC=1;AF=0.063;AN=16;BaseQRankSum=1.11;DP=185;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.125;MQ=21.26;MQRankSum=2.51;QD=9.87;ReadPosRankSum=0.660;SOR=0.169	GT:AD:DP:GQ:PL	0/1:27,11:38:99:381,0,1100	7	0	1	13
chrY	14840805	14840805	T	C	exonic	NLGN4Y	.	nonsynonymous SNV	NLGN4Y:NM_001206850:exon6:c.T1490C:p.I497T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198082355527	.	.	2.973e-05	0	0	0	0	5.338e-05	0	0	3.84e-05	1	26028	rs756153038	5.502e-06	5.5e-06	.	5.502e-06	0.0006	9.2e-07	3.4e-07	.	.	0	0	0	0	0	0.0006	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.23541	T	0.206	0.27056	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	1.78	0.46185	L	-0.05	0.65563	T	-0.99	0.26200	N	0.251	0.28381	.	.	.	.	.	.	.	0.19769144	0.35710	T	0.198082	0.86575	D	.	.	.	.	0.082315109003	0.07666	.	.	0.621815741039	0.56462	.	.	.	0.02699	0.19857	T	-0.311628	0.07605	T	-0.588555	0.13792	T	.	.	.	0.891811	0.62701	D	0.14148358	0.32598	0.25339532	0.50986	0.14148358	0.32598	0.25339532	0.50986	-5.662	0.46288	T	.	.	0.092	0.36535	B	.;.;.;.;.	.;.;.;.;.	2.946322	0.39190	20.9	0.61938778354923119	0.06835	0.62880	0.31917	D	AEF	.	.	.	.	.	.	.	.	.	0.9999708026436	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9	1.9	0.24770	3.098000	0.49950	4.190000	0.42397	0.312000	0.19173	0.997000	0.40164	0.984000	0.30665	0.975000	0.56047	.	.	.	.	.	.;.;.;.;.	.	.	.	.	.	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	0.09091	11707.28	706	chrY	14840805	.	T	C	11707.28	.	AC=2;AF=0.091;AN=22;BaseQRankSum=0.148;DP=706;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=3;MLEAF=0.136;MQ=49.34;MQRankSum=1.64;QD=32.98;ReadPosRankSum=1.07;SOR=1.039	GT:AD:DP:GQ:PL	1/1:2,353:355:99:11725,1030,0	10	1	0	10