Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES972	WT	HH	HZ	NC
chr1	1197681	1197681	C	T	exonic	TTLL10	.	nonsynonymous SNV	TTLL10:NM_001130045:exon16:c.C1856T:p.P619L,TTLL10:NM_001371649:exon16:c.C1856T:p.P619L	.	418	1087	16	1	0	18	0.00821168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	.	0.00219649	0.0070	0	0.0125	0	0	0.0036	0.02	0.0082	0.001022	158	154602	rs555101871	0.0065	0.0062	0.0064	0.0066	0.0090	0.0064	0.0063	0.0084	0.0082	0.0013	0.0012	0.0015	0	0.0107	0.0068	0.0069	0.0047	0.0090	0.0051	0.0051	0.0048	0.0054	0.0069	0.0048	0.0047	0.0063	0.0061	0.0011	0.0768	0.0019	0.0017	0.0002	0.0116	0.0171	0.0069	0.0019	0.0052	0.234	0.18061	T	0.041	0.50514	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.28	0.06523	T	-0.76	0.21215	N	0.082	0.05799	-0.9387	0.42822	T	0.010	0.03537	T	9	0.003720343	0.00069	T	.	.	.	0.006	0.00375	.	.	0.0846915920261	0.08053	0.18763150132946943	0.18681	0.0274691007543	0.02809	0.656124472618	0.60855	T	0.004927	0.04354	T	-0.712889	0.00031	T	-0.791102	0.02134	T	0.00722743942552826	0.00083	T	0.372463	0.08834	T	0.019925069	0.00535	0.031236721	0.01685	0.019925069	0.00535	0.031236721	0.01685	-4.605	0.32234	T	.	.	0.073	0.04806	B	.;.	.;.	-1.159278	0.00573	0.014	0.68161817225738608	0.08574	0.00179	0.01050	N	AEFBI	0.019223	0.00648	N	-1.81101660615736	0.00519	0.02232936	-1.9368135914713	0.00413	0.01827502	0.775491163512729	0.23745	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	1.48	-2.96	0.05212	-5.520000	0.00139	-4.626000	0.02062	-4.093000	0.00043	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2286:0.4072:0.1702:0.194	1.026	0.01432	779	0.47767	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006219	0.000000	0.000000	0.000000	0.000000	0.000000	0.013514	0.033333	0.05263	590.83	39	chr1	1197681	.	C	T	590.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.324;DP=585;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=2.27;SOR=0.653	GT:AD:DP:GQ:PL	0/1:26,16:42:99:343,0,622	17	0	2	0
chr1	1303203	1303203	G	A	exonic	ACAP3	.	nonsynonymous SNV	ACAP3:NM_030649:exon3:c.C184T:p.R62C	.	434	1066	22	0	0	22	0.0102136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0058	0.0109824	0.0173	0.0029	0.0920	0.0120	0	0.0121	0.0136	0.0082	0.0102651	1587	154602	rs145087137	0.0098	0.0098	0.0101	0.0096	0.0471	0.0097	0.0096	0.0454	0.0447	0.0024	0.0471	0.0179	0.0103	0.0009	0.0279	0.0090	0.0090	0.0059	0.0076	0.0076	0.0080	0.0072	0.0235	0.0072	0.0071	0.0215	0.0207	0.0025	0.0033	0.0235	0.0144	0.0068	0.0005	0.0238	0.0076	0.0175	0.0083	0.014	0.53172	D	0.111	0.42794	T	0.999	0.90584	D	0.807	0.63631	P	0.000002	0.62929	D	0.000000	0.995608	0.42768	D	1.905	0.50856	L	6.89	0.04446	T	-3.1	0.63554	D	0.793	0.78927	-1.1566	0.00842	T	0.008	0.02801	T	10	0.004399985	0.00090	T	.	.	.	0.113	0.31778	.	.	.	.	0.4656160404789092	0.46480	1.10122287715	0.77734	0.608934760094	0.54165	T	0.149929	0.48916	T	-0.401051	0.02279	T	-0.312353	0.43406	T	0.0229689569821304	0.01020	T	0.863414	0.55914	D	0.19107495	0.40719	0.16280355	0.37798	0.19107495	0.40719	0.16280355	0.37798	-11.683	0.83273	D	.	.	0.221	0.45224	B	.;.	.;.	5.262188	0.88351	29.6	0.9984607858335024	0.92576	0.94294	0.60709	D	AEFDBI	0.591001	0.58727	D	0.248984150455765	0.53588	3.52709	0.187298487634564	0.49151	3.121729	0.99994514814621	0.47345	0.706298	0.61202	0	0.643519	0.57511	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.33	3.33	0.37245	3.498000	0.53064	7.399000	0.58563	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.705000	0.34296	0.0:0.0:0.8041:0.1959	10.408	0.43461	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017172	0.025253	0.012262	0.047059	0.000000	0.017544	0.009146	0.003788	0.02632	594.33	40	chr1	1303203	.	G	A	594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.657;DP=683;ExcessHet=0;FS=4.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=1.35;SOR=0.243	GT:AD:DP:GQ:PL	0/1:16,24:40:99:608,0,408	18	0	1	0
chr1	1311010	1311010	C	G	exonic	PUSL1	.	nonsynonymous SNV	PUSL1:NM_001346116:exon7:c.C870G:p.H290Q,PUSL1:NM_153339:exon7:c.C801G:p.H267Q	.	406	1095	21	0	0	21	0.00949796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0013	0.0081869	0.0077	0.0005	0.0490	0.0069	0	0.0029	0.0045	0.0063	0.0070633	1092	154602	rs144555782	0.0040	0.0040	0.0040	0.0040	0.0411	0.0039	0.0039	0.0395	0.0389	0.0012	0.0411	0.0118	0.0103	0.0002	0.0267	0.0021	0.0045	0.0058	0.0039	0.0039	0.0038	0.0041	0.0189	0.0037	0.0036	0.0171	0.0164	0.0008	0.0033	0.0189	0.0092	0.0069	9.413e-05	0.0238	0.0021	0.0080	0.0083	0.314	0.13834	T	0.291	0.20944	T	0.784	0.44396	P	0.377	0.43762	B	0.002963	0.00929	N	3.413200	1	0.08975	N	0.595	0.15482	N	0.61	0.53516	T	-1.08	0.28084	N	0.263	0.29774	-1.0544	0.13198	T	0.031	0.13418	T	10	0.0031905472	0.00054	T	.	.	.	0.075	0.21907	0.363	0.36874	0.166414681773	0.16258	0.3177858859180514	0.31691	0.0892768414165	0.10086	0.41160517931	0.26678	T	0.018173	0.14695	T	-0.581168	0.00190	T	-0.575449	0.14953	T	0.0115784722198555	0.00176	T	0.608539	0.22995	T	0.069252	0.15157	0.049437147	0.07554	0.069252	0.15157	0.049437147	0.07553	-9.089	0.68267	D	.	.	0.201	0.42448	B	.;.	.;.	0.992398	0.13703	10.24	0.60160038095682122	0.06396	0.18174	0.20150	N	AEFBCI	0.134803	0.25493	N	-1.02056430156669	0.08178	0.3825228	-1.1600891790449	0.06589	0.3176404	0.999991054311857	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.58	-1.66	0.07824	-2.273000	0.01246	-0.336000	0.09852	-0.805000	0.03119	0.000000	0.06391	0.090000	0.22521	0.011000	0.09372	0.0:0.4722:0.0:0.5278	8.095	0.29983	774	0.48577	Pseudouridine synthase I, TruA, alpha/beta domain;Pseudouridine synthase I, TruA, alpha/beta domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.015152	0.010899	0.043860	0.000000	0.008621	0.009146	0.007576	0.02632	2829.33	43	chr1	1311010	.	C	G	2829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.312;DP=934;ExcessHet=0;FS=2.435;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.622;SOR=0.715	GT:AD:DP:GQ:PL	0/1:92,107:199:99:2843,0,2363	18	0	1	0
chr1	1374181	1374181	C	G	exonic	AURKAIP1	.	nonsynonymous SNV	AURKAIP1:NM_001127229:exon3:c.G317C:p.S106T,AURKAIP1:NM_001127230:exon3:c.G317C:p.S106T,AURKAIP1:NM_017900:exon3:c.G317C:p.S106T	.	.	.	.	.	.	.	.	.	.	.	2242972	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.0200227541325	7.7e-05	.	7.428e-05	0	0.0002	0	0	0.0001	0	0	6.47e-05	10	154602	rs369816391	5.884e-05	5.883e-05	6.263e-05	5.501e-05	0.0028	4.877e-05	4.497e-05	0.0017	0.0014	5.974e-05	6.708e-05	0	0	1.884e-05	0.0028	4.496e-05	0.0002	3.478e-05	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	8.708e-05	0.0002	0.0001	2.404e-05	0	0.0004	0	0	0	0	0.0002	0.0009	0	0.445	0.09128	T	0.475	0.12072	T	0.039	0.21116	B	0.01	0.14941	B	0.111830	0.19383	N	0.531595	1	0.08975	N	2.19	0.61577	M	0.88	0.46028	T	-1.44	0.35399	N	0.177	0.19055	-1.0200	0.23715	T	0.089	0.34243	T	10	0.059037864	0.07035	T	0.020023	0.42524	T	0.057	0.16321	.	.	0.438383285633	0.43460	0.08234081586163174	0.08169	0.287816497828	0.31183	0.398357570171	0.24840	T	0.03251	0.22518	T	-0.462233	0.00952	T	-0.632442	0.10231	T	0.0517847994376873	0.05810	T	0.466753	0.13720	T	0.09542208	0.22457	0.077658884	0.17321	0.09542208	0.22456	0.077658884	0.17321	-3.939	0.22888	T	0.4356721696631799	0.52206	0.090	0.13032	B	.;.;.;.	.;.;.;.	1.182846	0.15737	12.07	0.69595531065135874	0.09022	0.10202	0.15773	N	AEFDBCI	0.148513	0.27242	N	-0.736676885994339	0.14997	0.7519811	-0.754740189441515	0.15606	0.8216064	0.999909946147634	0.45458	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.06	4.14	0.47821	0.561000	0.23220	0.210000	0.15951	0.585000	0.30472	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.7193:0.1867:0.0941	7.243	0.25281	900	0.24599	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2239.33	36	chr1	1374181	.	C	G	2239.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.87;DP=832;ExcessHet=0;FS=0.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.075;SOR=0.708	GT:AD:DP:GQ:PL	0/1:120,88:208:99:2253,0,2956	18	0	1	0
chr1	1616568	1616568	C	G	exonic	MIB2	.	nonsynonymous SNV	MIB2:NM_001170686:exon2:c.C64G:p.P22A,MIB2:NM_001170687:exon2:c.C64G:p.P22A,MIB2:NM_001170688:exon2:c.C235G:p.P79A,MIB2:NM_080875:exon2:c.C64G:p.P22A	.	424	1092	5	1	0	7	0.00319489	.	.	.	718334	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.015	.	0.0042	0.00599042	0.0022	0.0270	0.0009	0	0	2.409e-05	0	8.003e-05	0.0014877	230	154602	rs138429382	0.0005	0.0005	0.0006	0.0005	0.0178	0.0005	0.0005	0.0166	0.0161	0.0178	0.0010	0	0	0	0.0021	1.896e-05	0.0015	4.709e-05	0.0052	0.0052	0.0053	0.0051	0.0178	0.0049	0.0048	0.0168	0.0163	0.0178	0	0.0018	0	0	0	0	0.0001	0.0047	0.0004	0.196	0.47320	T	0.04	0.50809	D	.	.	.	.	.	.	0.405221	0.04559	U	2.197280	1	0.23428	N	.	.	.	1.47	0.41058	T	-0.94	0.25332	N	0.157	0.17966	-1.0587	0.12083	T	0.014	0.05561	T	10	0.0026254654	0.00040	T	.	.	.	0.015	0.02232	.	.	0.0482279557977	0.04254	0.03094183437284905	0.03043	0.42636690805	0.43014	0.482061028481	0.36341	T	.	.	.	-0.641124	0.00082	T	-0.679426	0.07019	T	0.00285081681885116	0.00030	T	0.535646	0.17968	T	.	.	.	.	.	.	.	.	-3.485	0.16320	T	.	.	0.061	0.01367	B	.;.;.;.	.;.;.;.	1.021942	0.14015	10.58	0.9058570114389658	0.19839	0.04439	0.10038	N	AEFDGBCI	0.036294	0.04813	N	-1.10195674598134	0.06608	0.3046884	-1.11130479002373	0.07484	0.3641775	0.999979804691176	0.50053	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.581474	0.35302	0	.	.	2.63	0.558	0.16454	0.890000	0.27931	-0.004000	0.13159	0.463000	0.21641	0.280000	0.25141	0.019000	0.20708	0.008000	0.08271	0.0:0.5894:0.2543:0.1563	3.810	0.08309	804	0.43891	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002020	0.005155	0.002725	0.002959	0.000000	0.000000	0.000000	0.000000	0.02632	393.33	37	chr1	1616568	.	C	G	393.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.641;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=0.232;SOR=0.627	GT:AD:DP:GQ:PL	0/1:27,18:45:99:407,0,714	18	0	1	0
chr1	1665840	1665840	C	T	exonic	SLC35E2B	.	nonsynonymous SNV	SLC35E2B:NM_001110781:exon9:c.G1160A:p.R387Q,SLC35E2B:NM_001290264:exon10:c.G1160A:p.R387Q	.	.	.	.	.	.	.	.	.	.	.	4078358	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.0024665415281	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263696580	1.787e-05	1.71e-05	2.257e-05	1.305e-05	0.0002	1.227e-05	1.037e-05	2.227e-05	1.217e-05	0	8.403e-05	0	2.798e-05	0	0.0002	1.298e-05	3.449e-05	5.049e-05	3.942e-05	3.94e-05	2.569e-05	5.379e-05	0.0002	1.715e-05	1.129e-05	5.287e-05	2.835e-05	4.825e-05	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	0.681	0.06090	T	0.008	0.14655	B	0.001	0.04355	B	0.122494	0.02738	N	2.374930	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.051	0.02272	-1.0417	0.16800	T	0.041	0.17488	T	9	0.050150484	0.04707	T	0.002467	0.04896	T	.	.	0.31	0.28289	0.043077524339	0.03247	0.14224407214116147	0.14147	.	.	0.198826655746	0.00423	T	0.006279	0.05717	T	-0.463517	0.00934	T	-0.707285	0.05437	T	0.0302486530772903	0.02029	T	0.489851	0.15048	T	0.017164357	0.00251	0.022296026	0.00257	0.017164357	0.00251	0.022296026	0.00257	-4.057	0.24654	T	.	.	0.060	0.01109	B	.;.	.;.	-0.765771	0.01177	0.057	0.76734204242535875	0.11587	0.06848	0.12873	N	AEFDBHCIJ	0.044755	0.07239	N	-1.91298274806752	0.00323	0.01386712	-1.99315079835645	0.00317	0.01397775	0.999999786530136	0.74766	0.77792	0.99625	0	0.697927	0.68747	0	0.854111	0.99894	0	0.636168	0.56350	0	.	.	5.3	-10.6	0.00212	-0.488000	0.06578	-5.620000	0.01653	-1.092000	0.01532	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1389:0.1799:0.6812	12.477	0.55158	735	0.53711	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1531.33	36	chr1	1665840	.	C	T	1531.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=716;ExcessHet=0;FS=0.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.6;ReadPosRankSum=0.31;SOR=0.591	GT:AD:DP:GQ:PL	0/1:36,51:87:99:1545,0,946	18	0	1	0
chr1	2504359	2504359	C	T	exonic	PLCH2	.	nonsynonymous SNV	PLCH2:NM_014638:exon22:c.C3397T:p.R1133W	.	416	1103	3	0	0	3	0.00135808	.	.	.	2346060	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.198	0.0465847933025	0.0002	.	0.0004	0	0.0004	0	0	0.0006	0.0013	0.0003	0.0003169	49	154602	rs199730125	0.0003	0.0003	0.0003	0.0003	0.0033	0.0003	0.0003	0.0022	0.0018	8.965e-05	0.0007	0.0003	2.519e-05	0	0.0033	0.0003	0.0007	0.0001	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	9.633e-05	0	0.0008	0	0	0	0.0034	0.0003	0.0033	0	0.0	0.91255	D	0.002	0.79402	D	0.988	0.62325	D	0.544	0.49014	P	0.000173	0.00496	N	8.026950	1	0.81001	D	2.175	0.60977	M	1.79	0.25509	T	-2.64	0.56630	D	0.267	0.30233	-1.0226	0.22866	T	0.098	0.36625	T	10	0.14127913	0.26845	T	0.046585	0.62527	D	0.198	0.48105	.	.	0.601225841429	0.59804	0.3636145665926327	0.36275	.	.	0.463441550732	0.33782	T	0.250877	0.62104	T	-0.363237	0.03951	T	-0.390792	0.34458	T	0.0861418855504013	0.10753	T	.	.	.	0.27141604	0.50212	0.22936419	0.48005	0.27141604	0.50212	0.22936419	0.48004	-6.295	0.48682	T	.	.	0.152	0.33732	B	.;.	.;.	3.599313	0.50833	23.0	0.99797049054905096	0.88194	0.72744	0.35596	D	AEFDBCI	0.761411	0.69914	D	-0.180766702297293	0.33935	1.931083	-0.219788731248691	0.30827	1.739096	0.998851889318952	0.37823	0.580535	0.33130	0	0.550933	0.16991	0	0.514364	0.09456	0	0.604944	0.38103	0	.	.	4.62	1.26	0.20534	2.827000	0.47813	1.792000	0.28808	-0.189000	0.09497	1.000000	0.71638	1.000000	0.68203	0.147000	0.20199	0.5625:0.3176:0.1199:0.0	7.432	0.26303	834	0.38640	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004044	0.005208	0.005435	0.002959	0.000000	0.008772	0.003067	0.000000	0.02632	1277.33	33	chr1	2504359	.	C	T	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.431;DP=758;ExcessHet=0;FS=0.719;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.093;SOR=0.796	GT:AD:DP:GQ:PL	0/1:57,53:110:99:1291,0,1418	18	0	1	0
chr1	2586905	2586905	C	T	exonic	PRXL2B	.	nonsynonymous SNV	PRXL2B:NM_001195736:exon1:c.C20T:p.A7V,PRXL2B:NM_001195737:exon1:c.C20T:p.A7V,PRXL2B:NM_001195738:exon1:c.C20T:p.A7V,PRXL2B:NM_001195740:exon1:c.C20T:p.A7V,PRXL2B:NM_001195741:exon1:c.C20T:p.A7V,PRXL2B:NM_152371:exon1:c.C20T:p.A7V	.	395	1124	3	0	0	3	0.00133274	.	.	.	3379537	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.116681196494	7.9e-05	.	0.0004	0	0	0	0	0.0007	0	0	5.82e-05	9	154602	rs375491063	6.641e-05	7.524e-05	5.945e-05	7.403e-05	0.0021	5.393e-05	4.983e-05	0.0010	0.0007	0	0.0001	0	0	0	0.0021	6.327e-05	0.0001	6.281e-05	5.257e-05	5.253e-05	6.422e-05	4.037e-05	0.0001	2.557e-05	1.83e-05	4.766e-05	3.339e-05	0	0	6.543e-05	0	0	0	0	0.0001	0	0	0.5	0.07746	T	0.02	0.58613	D	0.009	0.17989	B	0.004	0.16460	B	0.019089	0.27335	N	0.362304	1	0.08975	N	.	.	.	0.91	0.45248	T	-0.91	0.25118	N	0.189	0.36779	-1.0154	0.25207	T	0.092	0.35146	T	10	0.057178944	0.06526	T	0.116681	0.79625	D	0.038	0.09825	.	.	0.344251166708	0.34027	0.17397509695703378	0.17317	0.487438807209	0.47571	0.879805624485	0.93934	D	0.027706	0.24342	T	-0.185065	0.22986	T	-0.503609	0.21973	T	0.0495828967490104	0.05426	T	0.706729	0.31713	T	0.07279216	0.16219	0.16525404	0.38239	0.07279216	0.16218	0.16525404	0.38238	-7.252	0.59906	T	.	.	0.213	0.46666	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.763237	0.22429	15.62	0.98947661971096068	0.49074	0.09036	0.14870	N	ALL	0.067998	0.13394	N	-0.795980724909739	0.13414	0.6606551	-0.868700149479511	0.12839	0.6627529	0.999999999883444	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.92	-0.636	0.10930	-0.245000	0.08908	1.602000	0.27589	-0.543000	0.04927	0.000000	0.06391	0.688000	0.26159	0.472000	0.28386	0.0:0.3478:0.5458:0.1064	7.814	0.28412	834	0.38640	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	925.33	28	chr1	2586905	.	C	T	925.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.385;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.913;SOR=0.671	GT:AD:DP:GQ:PL	0/1:35,41:76:99:939,0,791	18	0	1	0
chr1	3404788	3404788	G	A	exonic	PRDM16	.	nonsynonymous SNV	PRDM16:NM_022114:exon7:c.G934A:p.D312N,PRDM16:NM_199454:exon7:c.G934A:p.D312N	Cardiomyopathy, dilated, 1LL, Autosomal dominant;Left ventricular noncompaction 8, Autosomal dominant	424	1096	2	0	0	2	0.000911577	.	.	.	685711	not_provided|PRDM16-related_disorder|not_specified|Left_ventricular_noncompaction_8	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.146	0.0461591670848	0.0009	0.000199681	0.0002	0.0023	0.0003	0.0001	0	1.521e-05	0	6.058e-05	0.0002135	33	154602	rs191798831	8.486e-05	8.482e-05	7.353e-05	9.629e-05	0.0018	7.211e-05	6.799e-05	0.0015	0.0013	0.0018	0.0004	0	7.558e-05	0	0	2.158e-05	0.0002	3.478e-05	0.0006	0.0006	0.0006	0.0005	0.0018	0.0005	0.0004	0.0015	0.0014	0.0018	0	0.0005	0	0	0	0	1.47e-05	0	0	0.186	0.24661	T	0.105	0.39492	T	0.948	0.90584	P	0.479	0.79672	P	0.663308	0.10408	U	0.763586	0.999963	0.54805	D	1.73	0.44655	L	3.2	0.07236	T	-3.55	0.69714	D	0.747	0.82057	-1.0495	0.14537	T	0.045	0.19356	T	10	0.03024602	0.01151	T	0.046159	0.62324	D	0.146	0.38789	.	.	0.54801067971	0.54456	0.40223957782635406	0.40139	0.56151172001	0.52655	0.787594377995	0.80076	T	0.073334	0.87376	T	-0.555234	0.00271	T	-0.57588	0.14914	T	0.0805216960545	0.10054	T	0.946705	0.79569	D	0.27326778	0.50395	0.26175004	0.51958	0.27326778	0.50395	0.26175004	0.51957	-10.581	0.77528	D	.	.	0.716	0.74655	P	.;.;.;.;.	.;.;.;.;.	4.847445	0.79201	27.1	0.99865435762743371	0.94366	0.92701	0.56335	D	AEFDBCI	0.934781	0.92865	D	0.322491238230118	0.57304	3.897307	0.378080833086019	0.60214	4.206737	0.999999999273177	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.79	4.79	0.60909	7.846000	0.85175	11.683000	0.94248	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.383000	0.26402	0.0:0.0:1.0:0.0	16.599	0.84656	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.05263	6500.81	33	chr1	3404788	.	G	A	6500.81	.	AC=2;AF=0.053;AN=38;DP=838;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.81;SOR=0.823	GT:AD:DP:GQ:PL	1/1:0,211:211:99:6528,633,0	18	1	0	0
chr1	6581000	6581000	G	C	exonic	ZBTB48	.	nonsynonymous SNV	ZBTB48:NM_001278647:exon2:c.G391C:p.G131R,ZBTB48:NM_001278648:exon2:c.G391C:p.G131R,ZBTB48:NM_005341:exon2:c.G391C:p.G131R	.	407	1104	11	0	0	11	0.00495719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0002	0.000998403	0.0021	0.0001	0.0046	0	0	0.0004	0.0033	0.0104	0.0017076	264	154602	rs200132214	0.0009	0.0009	0.0005	0.0012	0.0107	0.0008	0.0008	0.0102	0.0099	0.0002	0.0024	0.0002	0	0	0.0024	0.0001	0.0009	0.0107	0.0005	0.0005	0.0003	0.0006	0.0091	0.0004	0.0003	0.0070	0.0062	4.812e-05	0	0.0007	0.0003	0	0	0.0068	0.0002	0	0.0091	0.081	0.33418	T	0.465	0.35710	T	0.011	0.15914	B	0.005	0.11217	B	0.039961	0.24111	N	0.459886	1	0.08975	N	.	.	.	1.8	0.25509	T	-1.15	0.29525	N	0.109	0.09490	-1.0574	0.12414	T	0.040	0.17234	T	10	0.0033471286	0.00058	T	.	.	.	0.035	0.08770	0.217	0.13788	0.043077524339	0.03247	0.36353198169895623	0.36267	0.450729479495	0.44836	0.386905312538	0.23232	T	0.063585	0.32215	T	-0.519697	0.00442	T	-0.511323	0.21179	T	0.0335401307800138	0.02561	T	0.806219	0.45479	T	0.112690106	0.26621	0.12003911	0.28972	0.112690106	0.26620	0.12003911	0.28971	-4.249	0.27455	T	.	.	0.133	0.40858	B	.;.;.	.;.;.	2.297345	0.29395	18.11	0.99599395657260059	0.74101	0.22629	0.21810	N	ALL	0.166628	0.29322	N	-0.53444359738725	0.20974	1.109666	-0.409121664179864	0.24730	1.355839	0.999999999999931	0.74766	0.766844	0.99359	0	0.484254	0.07192	0	0.851219	0.99655	0	0.721622	0.92947	0	.	.	5.18	5.18	0.71140	1.350000	0.33615	7.458000	0.59026	0.672000	0.70159	0.016000	0.19238	1.000000	0.68203	0.559000	0.30388	0.0:0.0:1.0:0.0	16.193	0.81824	761	0.50382	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.018939	0.05263	4443.81	33	chr1	6581000	.	G	C	4443.81	.	AC=2;AF=0.053;AN=38;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.03;SOR=0.963	GT:AD:DP:GQ:PL	1/1:0,148:148:99:4471,444,0	18	1	0	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3438	775.38	34	chr1	7933282	.	T	C	775.38	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-1.376;DP=684;ExcessHet=9.6465;FS=107.214;InbreedingCoeff=-0.4822;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.717;SOR=9.203	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:27,12:39:66:.:.:66,0,521:.	5	0	11	3
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q,KIF1B:NM_001365951:exon27:c.G2809C:p.E937Q,KIF1B:NM_001365952:exon27:c.G2809C:p.E937Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	12694.9	247	chr1	10326244	.	G	C	12694.9	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.862;DP=3403;ExcessHet=11.1788;FS=253.081;InbreedingCoeff=-0.4616;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=1.26;SOR=13.474	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,68:196:99:0|1:10326244_G_C:1270,0,4482:10326244	7	0	12	0
chr1	10660386	10660386	G	A	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.C656T:p.T219I,CASZ1:NM_017766:exon6:c.C656T:p.T219I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0057169978378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.161	0.31326	T	0.013	0.38659	B	0.022	0.38314	B	0.019756	0.27189	N	0.389447	0.999952	0.19072	N	0.345	0.11182	N	.	.	.	-1.14	0.29323	N	0.197	0.28264	-1.0365	0.18388	T	0.053	0.22462	T	9	0.1131416	0.21245	T	0.005717	0.14832	T	0.067	0.19503	0.184	0.09259	0.143184338766	0.13958	0.10694064819102451	0.10624	.	.	0.395304083824	0.24414	T	0.207754	0.56748	T	-0.172049	0.24926	T	-0.484913	0.23926	T	0.663078725337982	0.39031	D	0.734027	0.34984	T	0.07985118	0.18265	0.11306392	0.27285	0.07985118	0.18265	0.11306392	0.27285	-5.516	0.42017	T	.	.	0.143	0.31381	B	.;.	.;.	2.929248	0.38908	20.8	0.99594760407931215	0.73807	0.94146	0.60251	D	AEFGBI	0.525655	0.54834	D	-0.0943499136012913	0.37639	2.192778	0.00843479827640944	0.40106	2.388235	0.998548257662609	0.37167	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.98	3.98	0.45383	5.798000	0.68751	6.399000	0.55573	0.618000	0.50648	0.966000	0.33990	1.000000	0.68203	0.462000	0.28163	0.098:0.0:0.902:0.0	9.955	0.40830	778	0.48011	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1415.33	34	chr1	10660386	.	G	A	1415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.276;DP=773;ExcessHet=0;FS=2.418;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=1.27;SOR=0.568	GT:AD:DP:GQ:PL	0/1:53,57:110:99:1429,0,1373	18	0	1	0
chr1	11095829	11095829	T	G	exonic	EXOSC10	.	nonsynonymous SNV	EXOSC10:NM_001001998:exon3:c.A301C:p.S101R,EXOSC10:NM_002685:exon3:c.A301C:p.S101R	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	.	.	0.00179712	0.0020	0	0.0003	0	0	0	0.0011	0.0142	0.0016623	257	154602	rs199948532	0.0009	0.0009	0.0005	0.0013	0.0147	0.0009	0.0008	0.0140	0.0138	0	2.236e-05	0	0	0	0.0002	6.295e-06	0.0007	0.0147	0.0004	0.0004	0.0002	0.0006	0.0112	0.0003	0.0003	0.0088	0.0080	2.404e-05	0	0	0	0	0	0	0	0	0.0112	0.076	0.34269	T	0.206	0.27679	T	0.004	0.12183	B	0.014	0.19048	B	0.000001	0.84330	N	0.153923	0.999967	0.52935	D	2.045	0.56016	M	.	.	.	-1.52	0.36980	N	0.232	0.26111	-0.8308	0.53250	T	0.212	0.57241	T	9	0.008128077	0.00184	T	.	.	.	0.129	0.35316	0.577	0.70217	0.635145041397	0.63215	0.3520493213455193	0.35118	0.256881069147	0.28255	0.439684092999	0.30533	T	0.193314	0.54874	T	-0.492822	0.00627	T	-0.468357	0.25692	T	0.046443481784813	0.04864	T	0.790321	0.43084	T	0.46265373	0.64836	0.37153926	0.62381	0.46265373	0.64837	0.37153926	0.62381	-7.113	0.54970	T	.	.	0.331	0.55257	B	.;.	.;.	3.861577	0.56000	23.7	0.95754747189214107	0.27734	0.98621	0.84797	D	AEFDBI	0.642075	0.61918	D	-0.238897501801315	0.31549	1.770149	-0.144944003147333	0.33604	1.923902	0.999999307079409	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	5.676000	0.67802	7.901000	0.73554	0.556000	0.28261	1.000000	0.71638	0.994000	0.32194	0.966000	0.53164	0.0:0.0:0.0:1.0	14.777	0.69364	466	0.78352	.;Exosome-associated factor Rrp6, 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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2974.33	39	chr1	11095829	.	T	G	2974.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.842;DP=920;ExcessHet=0;FS=1.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-1.617;SOR=0.614	GT:AD:DP:GQ:PL	0/1:107,127:234:99:2988,0,2732	18	0	1	0
chr1	12725328	12725328	C	T	exonic	AADACL3	.	nonsynonymous SNV	AADACL3:NM_001103170:exon4:c.C556T:p.R186W	.	436	1047	39	0	0	39	0.0182841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0061	0.013778	0.0105	0.0018	0.0050	0.0476	0.0053	0.0082	0.0111	0.0114	0.0100775	1558	154602	rs17038445	0.0098	0.0098	0.0094	0.0102	0.0579	0.0097	0.0096	0.0559	0.0551	0.0013	0.0051	0.0164	0.0579	0.0050	0.0144	0.0082	0.0114	0.0131	0.0078	0.0078	0.0077	0.0079	0.0483	0.0074	0.0073	0.0433	0.0414	0.0015	0	0.0068	0.0184	0.0483	0.0044	0.0136	0.0083	0.0090	0.0147	.	.	.	0.008	0.67890	D	.	.	.	.	.	.	0.131886	0.18606	N	0.564805	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.453	0.49055	-1.0349	0.18888	T	0.024	0.10284	T	10	0.003815055	0.00072	T	.	.	.	0.063	0.18251	.	.	.	.	0.62208130842895	0.62141	0.208207064433	0.23289	0.28148907423	0.07700	T	.	.	.	-0.444819	0.01211	T	-0.358275	0.38253	T	0.0948134441152243	0.11776	T	0.852615	0.53799	D	0.15103917	0.34356	0.1337338	0.32062	0.15103917	0.34356	0.1337338	0.32061	-9.923	0.73449	D	.	.	0.148	0.32733	B	.	.	3.268441	0.44732	22.0	0.99834496126988381	0.91542	0.07793	0.13790	N	AEFBI	0.126934	0.24408	N	0.123399649389749	0.47556	2.979665	-0.18309219842544	0.32156	1.826749	9.69845738903301E-4	0.08067	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.2	2.25	0.27340	0.124000	0.15557	1.036000	0.23518	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.188000	0.21541	0.0:0.634:0.0:0.366	9.292	0.36952	911	0.21964	Alpha/beta hydrolase fold-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	0.018630	0.005051	0.019022	0.017544	0.000000	0.008621	0.018293	0.034091	0.05263	2431.83	108	chr1	12725328	.	C	T	2431.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.813;DP=806;ExcessHet=0.119;FS=1.09;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.049;SOR=0.813	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1269,0,1297	17	0	2	0
chr1	12794137	12794137	G	A	exonic	PRAMEF1	.	stopgain	PRAMEF1:NM_023013:exon3:c.G510A:p.W170X	.	438	1068	14	2	0	18	0.00835655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	3.32e-05	0.0002	8.642e-05	0	0	0	0	6.069e-05	3.84e-05	1	26028	rs576609145	0.0003	0.0011	0.0002	0.0004	0.0019	0.0003	0.0003	0.0017	0.0016	0	0.0006	0.0003	0.0016	0.0002	0.0002	0.0001	0.0003	0.0019	0.0023	0.0092	0.0023	0.0024	0.0074	0.0021	0.0020	0.0054	0.0047	0.0007	0	0.0025	0.0015	0.0048	0.0021	0	0.0028	0.0035	0.0074	.	.	.	.	.	.	.	.	.	.	.	.	0.001734	0.38161	N	0.234704	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.015	0.00181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0542977	0.58895	T	0.0768869	0.75369	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.150114	0.94673	34	0.98770900261027439	0.45971	0.03351	0.08438	N	AEFI	0.028738	0.02587	N	-0.00152480262650556	0.41786	2.505716	-0.392103728872145	0.25230	1.386319	3.21845939223488E-5	0.03775	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.74	1.74	0.23636	1.643000	0.36833	0.273000	0.16680	0.481000	0.22134	0.019000	0.19563	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	6.956	0.23754	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	279.33	33	chr1	12794137	.	G	A	279.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.72;DP=1401;ExcessHet=0;FS=37.107;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.78;MQRankSum=-4.358;QD=1.48;ReadPosRankSum=-2.134;SOR=3.889	GT:AD:DP:GQ:PL	0/1:167,22:189:99:293,0,4936	18	0	1	0
chr1	12794474	12794474	C	T	exonic	PRAMEF1	.	nonsynonymous SNV	PRAMEF1:NM_023013:exon3:c.C847T:p.H283Y	.	440	1058	22	2	0	26	0.0121382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00164612907533	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200215746	5.423e-05	0.0010	2.185e-05	8.694e-05	0.0004	4.425e-05	4.096e-05	0.0003	0.0003	0	6.738e-05	0	0.0003	0	0.0004	2.345e-05	0	0.0004	0.0008	0.0066	0.0007	0.0009	0.0018	0.0007	0.0006	0.0010	0.0007	0.0002	0	0.0012	0.0015	0.0018	0.0013	0	0.0008	0.0005	0.0016	0.488	0.08042	T	0.373	0.16328	T	0.001	0.07471	B	0.008	0.13708	B	0.959497	0.07708	N	1.018660	1	0.08975	N	2.05	0.56469	M	5.51	0.00912	T	-3.0	0.62343	D	0.173	0.18512	-0.9386	0.42837	T	0.004	0.01226	T	10	0.059375614	0.07129	T	0.001646	0.02676	T	0.025	0.05312	.	.	0.0884992946249	0.08302	0.1587466601454392	0.15795	0.41441442246	0.42123	0.526407063007	0.42528	T	0.012055	0.10661	T	-0.298545	0.08798	T	-0.666616	0.07827	T	0.0575446023762822	0.06776	T	0.340666	0.07366	T	0.023380632	0.01074	0.03212981	0.01901	0.023380632	0.01074	0.03212981	0.01901	-5.053	0.37410	T	.	.	0.097	0.15921	B	.	.	-0.595727	0.01583	0.106	0.29657303040791788	0.01584	0.00119	0.00751	N	AEFI	0.024797	0.01593	N	-1.63891141640117	0.01082	0.04698796	-1.76594649224929	0.00875	0.03909194	2.37417213051124E-5	0.03498	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.61	-2.06	0.06894	-2.140000	0.01387	-13.865000	0.00434	-3.082000	0.00127	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4901:0.0:0.5099	5.402	0.15599	888	0.27761	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	123.33	33	chr1	12794474	.	C	T	123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.604;DP=1022;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.96;MQRankSum=-8.081;QD=1.67;ReadPosRankSum=-1.179;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,8:74:99:0|1:12794470_T_C:137,0,2703:12794470	18	0	1	0
chr1	12859142	12859142	A	C	exonic	PRAMEF2	.	nonsynonymous SNV	PRAMEF2:NM_023014:exon2:c.A133C:p.S45R	.	434	1068	17	3	0	23	0.0106531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0007	.	0.0224	0.0065	0.0169	0.0287	0.0154	0.0220	0.0255	0.0370	1.94e-05	3	154602	rs148395681	0.0003	0.0058	0.0002	0.0004	0.0016	0.0003	0.0003	0.0014	0.0013	9.013e-05	0.0005	0.0005	0.0015	9.447e-05	0.0002	0.0002	0.0003	0.0016	0.0016	0.0078	0.0016	0.0016	0.0042	0.0015	0.0014	0.0027	0.0023	0.0004	0	0.0022	0.0021	0.0030	0.0013	0	0.0020	0.0020	0.0042	0.207	0.19854	T	0.197	0.27855	T	0.0	0.02946	B	0.003	0.08700	B	0.146375	0.02927	N	1.895630	1	0.08975	N	1.2	0.30300	L	3.54	0.04799	T	-1.82	0.42763	N	0.063	0.03502	-0.9667	0.37874	T	0.018	0.07518	T	10	0.0055422187	0.00122	T	.	.	.	0.055	0.15663	0.573	0.69695	.	.	0.24634982894860383	0.24548	0.0453201509487	0.04909	0.632463812828	0.57494	T	0.005646	0.05100	T	-0.244245	0.14813	T	-0.588617	0.13786	T	0.00384108233459228	0.00041	T	.	.	.	0.08908517	0.20803	0.1023203	0.24520	0.08908517	0.20803	0.1023203	0.24519	-5.848	0.44990	T	.	.	0.204	0.42877	B	.	.	0.234352	0.06155	2.600	0.4861215699616942	0.04071	0.00120	0.00751	N	AEFI	0.021374	0.00945	N	-1.17082364800591	0.05446	0.2482901	-1.32117409778244	0.04157	0.195488	1.31962910234648E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.842	-1.06	0.09491	-1.583000	0.02219	-14.080000	0.00422	0.646000	0.52725	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.5854:0.4146:0.0:0.0	3.549	0.07393	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012247	0.000000	0.006793	0.008333	0.000000	0.000000	0.018519	0.034351	0.02632	34.33	34	chr1	12859142	.	A	C	34.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.792;DP=1089;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.16;MQRankSum=-7.579;QD=0.58;ReadPosRankSum=-1.457;SOR=0.556	GT:AD:DP:GQ:PL	0/1:54,5:59:48:48,0,1482	18	0	1	0
chr1	12859862	12859862	A	G	exonic	PRAMEF2	.	nonsynonymous SNV	PRAMEF2:NM_023014:exon3:c.A457G:p.I153V	.	433	1055	14	2	18	36	0.00845865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0013542733163	.	0.000998403	0.0001	0	0.0002	0.0003	0	6.045e-05	0	0.0002	0.0001921	5	26028	rs200536956	0.0014	0.0069	0.0012	0.0016	0.0103	0.0013	0.0013	0.0095	0.0091	0.0002	0.0015	0.0012	0.0103	0.0009	0.0019	0.0008	0.0016	0.0062	0.0047	0.0072	0.0046	0.0047	0.0244	0.0044	0.0043	0.0208	0.0195	0.0009	0	0.0040	0.0050	0.0244	0.0028	0.0034	0.0050	0.0049	0.0203	0.111	0.29029	T	0.131	0.34596	T	0.0	0.02946	B	0.001	0.04355	B	0.554836	0.05391	N	1.365610	1	0.08975	N	-0.08	0.04796	N	3.62	0.04399	T	-0.7	0.19933	N	0.035	0.01004	-0.9131	0.46467	T	0.007	0.02282	T	10	0.01134035	0.00248	T	0.001354	0.01936	T	0.019	0.03383	.	.	0.0138822411134	0.00435	0.2155050803687211	0.21466	0.0374973046264	0.03981	0.522633910179	0.41997	T	0.015135	0.12752	T	-0.357104	0.04296	T	-0.750732	0.03457	T	0.0191184742931647	0.00620	T	.	.	.	0.039165292	0.05356	0.040626336	0.04433	0.039165292	0.05356	0.040626336	0.04432	-3.456	0.15821	T	.	.	0.108	0.20352	B	.	.	-0.884169	0.00953	0.037	0.29172335004058758	0.01534	0.00120	0.00751	N	AEFI	0.019432	0.00673	N	-1.75461075522274	0.00666	0.0287285	-1.81591447708507	0.00710	0.0316091	3.49053143285834E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.842	-1.68	0.07773	-0.968000	0.03928	-14.116000	0.00420	-2.728000	0.00203	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2916:0.7084:0.0:0.0	6.211	0.19841	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	356.33	33	chr1	12859862	.	A	G	356.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.632;DP=2046;ExcessHet=0;FS=10.485;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.85;MQRankSum=-6.266;QD=2.53;ReadPosRankSum=2.1;SOR=1.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,19:141:99:0|1:12859846_A_G:370,0,4998:12859846	18	0	1	0
chr1	12881867	12881867	C	T	exonic	PRAMEF4	.	nonsynonymous SNV	PRAMEF4:NM_001009611:exon3:c.G862A:p.D288N	.	437	1060	23	2	0	27	0.0125757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00114698807214	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200956025	0.0026	0.0086	0.0024	0.0027	0.0064	0.0025	0.0025	0.0057	0.0055	0.0003	0.0019	0.0021	0.0064	0.0018	0.0022	0.0025	0.0026	0.0041	0.0028	0.0079	0.0032	0.0024	0.0041	0.0026	0.0025	0.0034	0.0032	0.0009	0	0.0034	0.0021	0.0037	0.0027	0	0.0038	0.0036	0.0041	0.16	0.23721	T	0.186	0.28860	T	1.0	0.90584	D	0.999	0.92359	D	0.023064	0.26512	N	0.418720	1	0.08975	N	1.62	0.41497	L	0.7	0.51474	T	-3.81	0.71882	D	0.278	0.31478	-0.9856	0.33687	T	0.144	0.46696	T	10	0.0845927	0.14194	T	0.001147	0.01434	T	0.051	0.14325	.	.	0.158396225186	0.15383	0.24433227600248794	0.24347	2.50878901569	0.97686	0.701608836651	0.67376	T	0.023709	0.18049	T	-0.275459	0.11156	T	-0.633454	0.10154	T	0.562671661376953	0.34956	D	.	.	.	0.023086784	0.01019	0.024811512	0.00508	0.023086784	0.01019	0.024811512	0.00508	-3.6	0.17857	T	.	.	0.126	0.26607	B	.	.	0.790309	0.11606	8.196	0.99289873868908907	0.58219	0.00254	0.01397	N	AEFI	0.020490	0.00814	N	-0.770649728458505	0.14080	0.6984676	-1.05249213120013	0.08655	0.4266333	1.25233174664961E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	-0.89	0.10041	-0.308000	0.08196	-11.230000	0.00623	-0.552000	0.04894	0.089000	0.22556	0.000000	0.08366	0.005000	0.06747	0.0:0.5146:0.2846:0.2008	3.037	0.05754	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	290.33	83	chr1	12881867	.	C	T	290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.151;DP=2038;ExcessHet=0;FS=5.409;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.56;MQRankSum=-4.069;QD=2.07;ReadPosRankSum=1.92;SOR=1.449	GT:AD:DP:GQ:PL	0/1:123,17:140:99:304,0,3820	18	0	1	0
chr1	12919851	12919851	G	A	splicing	PRAMEF7	NM_001012277:exon4:c.864-1G>A	.	.	.	877	644	0	1	0	2	0.00155039	1.0000	0.898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.248e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs199770514	0.0025	0.0070	0.0021	0.0029	0.0114	0.0025	0.0024	0.0107	0.0104	0.0007	0.0028	0.0025	0.0085	0.0018	0.0023	0.0016	0.0028	0.0114	0.0003	0.0046	0.0003	0.0003	0.0012	0.0002	0.0002	0.0003	0.0002	0.0003	0	0.0004	0	0.0012	0.0003	0	0.0002	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0702418	0.41289	T	-0.338674	0.40494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.662730	0.34696	19.70	0.97373563797846296	0.33637	0.47059	0.27898	N	AEFI	.	.	.	0.491650854872737	0.66601	4.971257	0.152247568033959	0.47260	2.959018	1.70053872581964E-5	0.02871	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0896902	0.20274	1.68	1.68	0.23219	3.640000	0.54086	1.582000	0.27480	0.320000	0.19365	0.517000	0.27088	0.309000	0.24262	0.006000	0.07323	0.0:0.0:1.0:0.0	9.375	0.37437	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	204.08	33	chr1	12919851	.	G	A	204.08	.	AC=2;AF=0.063;AN=32;DP=231;ExcessHet=0;FS=0;InbreedingCoeff=0.3676;MLEAC=2;MLEAF=0.063;MQ=25.91;QD=30.17;SOR=3.611	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,5:5:15:1|1:12919845_C_T:225,15,0:12919845	15	1	0	3
chr1	12919865	12919865	T	C	exonic	PRAMEF7	.	nonsynonymous SNV	PRAMEF7:NM_001012277:exon4:c.T877C:p.S293P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0026337940387	.	.	.	.	.	.	.	.	.	.	0.0001488	23	154602	rs200741009	0.0028	0.0070	0.0024	0.0032	0.0130	0.0027	0.0027	0.0122	0.0119	0.0009	0.0038	0.0024	0.0091	0.0021	0.0019	0.0018	0.0033	0.0130	0.0002	0.0041	0.0001	0.0002	0.0011	0.0001	8.75e-05	0.0002	8.235e-05	0.0003	0	0.0002	0	0.0005	0.0002	0	0.0001	0	0.0011	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.000011	0.62929	N	0.066123	0.999999	0.08975	N	-1.71	0.00345	N	5.35	0.01058	T	4.82	0.00027	N	0.192	0.21056	-0.9122	0.46582	T	0.001	0.00438	T	10	0.064653784	0.08607	T	0.002634	0.05349	T	0.101	0.28911	.	.	0.158396225186	0.15383	0.25308466352116044	0.25222	.	.	0.501503288746	0.39037	T	0.043881	0.26642	T	-0.321179	0.06801	T	-0.699128	0.05874	T	0.0665859282016754	0.08163	T	.	.	.	0.1624676	0.36324	0.17664526	0.40213	0.1624676	0.36324	0.17664526	0.40212	0.877	0.00148	T	.	.	0.037	0.00007	B	.;.	.;.	0.037642	0.04546	1.237	0.81474547889342031	0.13703	0.00020	0.00220	N	AEFI	0.009686	0.00059	N	-1.55856231072618	0.01485	0.06483202	-1.4973977514051	0.02366	0.10869	2.01611720251108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.68	1.68	0.23219	0.455000	0.21555	-15.000000	0.00376	-0.699000	0.04065	0.050000	0.21411	0.000000	0.08366	0.002000	0.04165	0.0:0.8267:0.0:0.1733	6.411	0.20895	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	102.08	33	chr1	12919865	.	T	C	102.08	.	AC=2;AF=0.071;AN=28;DP=230;ExcessHet=0;FS=0;InbreedingCoeff=0.3546;MLEAC=2;MLEAF=0.071;MQ=25.63;QD=25.52;SOR=3.258	GT:AD:DP:GQ:PL	1/1:0,4:4:12:121,12,0	13	1	0	5
chr1	12939148	12939148	T	C	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.A958G:p.I320V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00260485781724	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331318799	0.0036	0.0090	0.0032	0.0040	0.0113	0.0035	0.0035	0.0105	0.0102	0.0007	0.0048	0.0048	0.0105	0.0029	0.0053	0.0026	0.0041	0.0113	0.0035	0.0094	0.0035	0.0035	0.0113	0.0032	0.0031	0.0085	0.0075	0.0010	0.0015	0.0031	0.0035	0.0113	0.0024	0.0085	0.0041	0.0030	0.0106	0.311	0.13971	T	0.327	0.18732	T	0.001	0.07471	B	0.002	0.06944	B	0.245044	0.15629	N	0.642203	1	0.08975	N	0.335	0.10427	N	0.66	0.52416	T	-0.54	0.16598	N	0.085	0.06190	-1.0572	0.12465	T	0.072	0.29227	T	10	0.01188305	0.00258	T	0.002605	0.05263	T	0.021	0.04004	0.367	0.37524	0.043077524339	0.03247	0.09847446408160296	0.09778	1.42932621729	0.85777	0.619717359543	0.55689	T	0.010783	0.09704	T	-0.249914	0.14108	T	-0.596761	0.13085	T	0.273441195487976	0.23894	T	.	.	.	0.025925655	0.01587	0.025626402	0.00614	0.025925655	0.01586	0.025626402	0.00614	-4.474	0.30547	T	.	.	0.071	0.03811	B	.;.	.;.	0.100598	0.05021	1.573	0.20238830773981528	0.00719	0.00321	0.01686	N	AEFI	0.027556	0.02273	N	-1.20209849819569	0.04969	0.2254696	-1.33783456991949	0.03951	0.1853828	1.63327906929661E-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	-1.61	0.07951	0.237000	0.17763	-20.000000	0.00162	-1.186000	0.01380	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2002:0.2887:0.511	2.475	0.04296	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	31.33	18	chr1	12939148	.	T	C	31.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.12;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=24.77;MQRankSum=-2.23;QD=2.09;ReadPosRankSum=0.085;SOR=0.193	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,2:15:45:0|1:12939148_T_C:45,0,540:12939148	18	0	1	0
chr1	12939171	12939171	T	C	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.A935G:p.K312R	.	6	218	1	1	0	3	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.000819015957068	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1254674237	0.0038	0.0091	0.0034	0.0041	0.0116	0.0036	0.0036	0.0106	0.0102	0.0007	0.0050	0.0048	0.0116	0.0027	0.0055	0.0026	0.0041	0.0113	0.0030	0.0091	0.0033	0.0027	0.0100	0.0027	0.0026	0.0073	0.0064	0.0006	0	0.0027	0.0021	0.0100	0.0014	0.0092	0.0036	0.0033	0.0090	0.319	0.13610	T	0.545	0.09588	T	0.0	0.02946	B	0.001	0.04355	B	0.786183	0.09433	N	0.894266	1	0.08975	N	0.16	0.08945	N	3.05	0.08721	T	0.04	0.06488	N	0.031	0.00770	-0.9503	0.40920	T	0.011	0.04042	T	10	0.0287112	0.01001	T	8.19E-4	0.00670	T	0.008	0.00669	0.321	0.30064	0.043077524339	0.03247	0.13067035770785318	0.12992	1.40537134021	0.85306	0.509608924389	0.40167	T	0.00755	0.06949	T	-0.430371	0.01475	T	-0.855974	0.00887	T	0.084899618084257	0.10602	T	.	.	.	0.04236657	0.06411	0.025389824	0.00582	0.04236657	0.06410	0.025389824	0.00582	-5.142	0.38346	T	.	.	0.068	0.02960	B	.;.	.;.	-0.873174	0.00971	0.038	0.34431606410657845	0.02106	0.00083	0.00561	N	AEFI	0.026677	0.02047	N	-1.91011027022459	0.00327	0.01405942	-2.00273199843751	0.00302	0.01334637	9.16317648746148E-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	-3.05	0.05069	-3.171000	0.00633	-20.000000	0.00162	-3.145000	0.00118	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1948:0.2729:0.5323	3.835	0.08402	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	46.33	18	chr1	12939171	.	T	C	46.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.431;DP=377;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=24.66;MQRankSum=-1.701;QD=4.63;ReadPosRankSum=-0.589;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:12939148_T_C:60,0,330:12939148	18	0	1	0
chr1	13306898	13306898	G	A	exonic	PRAMEF33	.	nonsynonymous SNV	PRAMEF33:NM_001291381:exon3:c.G548A:p.S183N	.	640	865	13	4	0	21	0.0119931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0068	0.0012	0.0015	0.0036	0.0013	0.0013	0.0032	0.0031	0.0003	0.0016	0.0007	0.0016	0.0006	0.0015	0.0012	0.0008	0.0036	1.369e-05	0.0003	0	2.924e-05	2.862e-05	0	0	.	.	0	0	0	0	0	0	0	2.862e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08519915	0.14360	T	.	.	.	.	.	.	.	.	.	0.15008973343766635	0.14930	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069962904	0.15370	0.11901963	0.28728	0.069962904	0.15370	0.11901963	0.28727	-3.204	0.12530	T	.	.	0.085	0.10159	B	.	.	-0.249960	0.02846	0.399	0.18888155392224082	0.00614	0.00044	0.00357	N	AEFI	.	.	.	.	.	.	.	.	.	2.51985763540248E-4	0.06190	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0423056	0.02128	0.632	-1.26	0.08892	-0.840000	0.04471	-6.675000	0.01335	-1.053000	0.01634	0.002000	0.15269	0.000000	0.08366	0.022000	0.11911	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	104.35	.	chr1	13306898	.	G	A	104.35	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.013;DP=632;ExcessHet=0;FS=7.602;InbreedingCoeff=-0.0392;MLEAC=1;MLEAF=0.029;MQ=32.85;MQRankSum=-1.004;QD=2.01;ReadPosRankSum=-1.815;SOR=2.608	GT:AD:DP:GQ:PL	0/1:44,8:52:99:117,0,1166	16	0	1	2
chr1	13319834	13319839	AGAGCA	-	exonic	PRAMEF15	.	nonframeshift deletion	PRAMEF15:NM_001098376:exon3:c.756_761del:p.E253_Q254del	.	435	1037	50	0	0	50	0.0235405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.829e-05	0.0049	7.355e-05	6.298e-05	7.027e-05	5.733e-05	5.268e-05	5.4e-05	4.968e-05	0	4.487e-05	3.841e-05	5.091e-05	0.0002	0	6.645e-05	6.699e-05	7.027e-05	0.0002	0.0046	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	2.415e-05	0	0.0004	0	0.0010	0.0004	0	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	318.29	38	chr1	13319833	.	CAGAGCA	C	318.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.725;DP=1520;ExcessHet=0;FS=0.995;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.35;MQRankSum=-2.836;QD=0.72;ReadPosRankSum=2.11;SOR=0.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:406,37:443:99:0|1:13319825_C_T:332,0,16837:13319825	18	0	1	0
chr1	13319836	13319836	A	0	exonic	PRAMEF15	.	.	.	.	432	909	136	0	45	181	0.0696008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	385.43	38	chr1	13319836	.	A	*	385.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.554;DP=1799;ExcessHet=0.119;FS=4.19;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=31.08;MQRankSum=-6.775;QD=0.5;ReadPosRankSum=1.22;SOR=1.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:406,37:443:99:0|1:13319825_C_T:332,0,16837:13319825	18	0	1	0
chr1	13319841	13319841	-	AAC	exonic	PRAMEF15	.	nonframeshift insertion	PRAMEF15:NM_001098376:exon3:c.763_764insAAC:p.K255_K256insQ	.	429	1040	50	0	3	53	0.0234742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0054	0.0001	9.159e-05	0.0001	9.076e-05	8.548e-05	9.87e-05	9.265e-05	0	4.495e-05	3.848e-05	5.099e-05	0.0002	0	0.0001	3.369e-05	0.0001	0.0003	0.0047	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	2.421e-05	0	0.0005	0	0.0010	0.0007	0	0.0003	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	339.29	38	chr1	13319841	.	A	AAAC	339.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.998;DP=1490;ExcessHet=0;FS=0.986;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.75;MQRankSum=-3.106;QD=0.78;ReadPosRankSum=2.36;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:399,37:436:99:0|1:13319825_C_T:353,0,16556:13319825	18	0	1	0
chr1	13319850	13319850	A	T	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon3:c.A772T:p.I258F	.	429	1045	48	0	0	48	0.0224509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.0465945570856	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428519179	4.665e-05	0.0031	4.853e-05	4.475e-05	0.0002	3.726e-05	3.407e-05	3.85e-05	3.448e-05	0	0	0	0	0.0002	0.0002	4.915e-05	0	2.338e-05	0.0003	0.0049	0.0003	0.0004	0.0007	0.0002	0.0002	0.0004	0.0003	4.841e-05	0	0.0007	0	0.0004	0.0007	0	0.0003	0	0.0006	0.9	0.02424	T	0.776	0.04387	T	.	.	.	.	.	.	0.001351	0.00773	N	19.271900	1	0.08975	N	.	.	.	5.52	0.00903	T	1.5	0.00737	N	0.059	0.03069	-0.9244	0.44943	T	0.002	0.00497	T	8	0.030527383	0.01180	T	8.26E-4	0.00670	T	.	.	.	.	0.0138822411134	0.00435	0.33559197118945355	0.33472	.	.	0.548362731934	0.45626	T	.	.	.	-0.398354	0.02374	T	-0.809984	0.01665	T	0.0521829248714305	0.05879	T	0.019698	0.00107	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03625	B	.	.	-0.990380	0.00785	0.025	0.12626954865192833	0.00225	0.00048	0.00378	N	AEFI	0.015058	0.00269	N	-1.80295027828649	0.00538	0.02316194	-1.93913050305334	0.00409	0.01808103	1.63364461905026E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.44	-2.89	0.05326	-2.241000	0.01279	-20.000000	0.00162	-2.623000	0.00229	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.219:0.2393:0.2149:0.3268	0.134	0.00071	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	304.33	38	chr1	13319850	.	A	T	304.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.732;DP=1505;ExcessHet=0;FS=0.966;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=32.67;MQRankSum=-3.541;QD=0.68;ReadPosRankSum=0.978;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:411,37:448:99:0|1:13319825_C_T:318,0,16734:13319825	18	0	1	0
chr1	13416364	13416364	C	T	exonic	PRAMEF20	.	nonsynonymous SNV	PRAMEF20:NM_001099852:exon2:c.C10T:p.R4W	.	431	1075	16	0	0	16	0.00738689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000709417468001	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1200392559	2.26e-05	3.42e-05	2.18e-05	2.34e-05	6.709e-05	1.612e-05	1.418e-05	1.779e-05	1.106e-05	5.984e-05	6.709e-05	0	0	0	0	1.979e-05	6.639e-05	2.32e-05	0.0001	0.0047	7.835e-05	0.0002	0.0004	8.807e-05	7.372e-05	8.069e-05	6.111e-05	9.657e-05	0	0.0001	0	0	0.0002	0	0.0002	0	0.0004	0.259	0.16628	T	0.241	0.24334	T	.	.	.	.	.	.	0.024495	0.01612	N	2.502770	1	0.08975	N	.	.	.	3.54	0.04799	T	-2.15	0.48687	N	0.169	0.18512	-1.0067	0.27943	T	0.013	0.04938	T	8	0.07354656	0.11125	T	7.09E-4	0.00454	T	0.024	0.04979	.	.	0.0297737177859	0.01360	0.2909402595173478	0.29007	.	.	0.418873459101	0.27682	T	0.02624	0.19457	T	-0.37262	0.03463	T	-0.77302	0.02670	T	0.0575156392863194	0.06771	T	0.0345465	0.00233	T	0.06992423	0.15358	0.038510766	0.03735	0.06992423	0.15358	0.038510766	0.03735	-6.388	0.49416	T	.	.	0.100	0.17785	B	.;.	.;.	0.952806	0.13291	9.792	0.76337685020200563	0.11427	0.00210	0.01196	N	AEFI	0.047331	0.07959	N	-0.92734624835191	0.10206	0.4866062	-1.13813074264662	0.06983	0.3380191	9.86103046633029E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.51	-2.17	0.06663	-0.996000	0.03819	-20.000000	0.00162	0.531000	0.24825	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2441:0.3236:0.242:0.1903	0.477	0.00506	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	287.33	34	chr1	13416364	.	C	T	287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.747;DP=790;ExcessHet=0;FS=5.042;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.77;MQRankSum=-12.53;QD=1.7;ReadPosRankSum=2.6;SOR=0.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,18:169:99:0|1:13416326_C_G:301,0,6286:13416326	18	0	1	0
chr1	13416392	13416392	C	T	exonic	PRAMEF20	.	nonsynonymous SNV	PRAMEF20:NM_001099852:exon2:c.C38T:p.A13V	.	433	1070	19	0	0	19	0.00880037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000861844621387	.	.	0.0042	0	0	0.0035	0	0.0071	0	0	0.0001537	4	26028	rs764804487	0.0009	0.0009	0.0009	0.0009	0.0015	0.0008	0.0008	0.0009	0.0009	0.0008	0.0009	0.0015	0.0004	0.0002	0.0015	0.0010	0.0008	0.0001	0.0009	0.0045	0.0010	0.0008	0.0011	0.0008	0.0007	0.0009	0.0008	0.0009	0	0.0008	0.0009	0.0008	0.0002	0.0035	0.0011	0.0014	0	0.014	0.53172	D	0.039	0.51112	D	.	.	.	.	.	.	0.000290	0.46274	D	0.148518	1	0.08975	N	.	.	.	3.31	0.06291	T	-3.25	0.65283	D	0.252	0.28498	-1.0626	0.11118	T	0.025	0.10643	T	8	0.011532217	0.00252	T	8.62E-4	0.00755	T	0.038	0.09825	.	.	0.0138822411134	0.00435	0.39221524248051254	0.39136	.	.	0.547596812248	0.45518	T	0.147362	0.48542	T	-0.314153	0.07387	T	-0.689035	0.06445	T	0.0238544619380555	0.01126	T	0.744526	0.36463	T	0.021667529	0.00781	0.040218234	0.04296	0.021667529	0.00781	0.040218234	0.04295	-7.23	0.55696	T	.	.	0.281	0.53293	B	.;.	.;.	1.297342	0.16988	12.89	0.97166827344432583	0.32656	0.00828	0.03334	N	AEFI	0.028801	0.02606	N	-0.735502719796307	0.15029	0.7538799	-0.942897332314359	0.11088	0.5627625	4.4732472864473E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.51	0.567	0.16510	-0.481000	0.06631	-5.194000	0.01811	-1.036000	0.01678	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.0:0.7721:0.0:0.2279	4.122	0.09581	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006032	0.000000	0.007418	0.000000	0.000000	0.009091	0.000000	0.013514	0.02632	206.33	34	chr1	13416392	.	C	T	206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.441;DP=802;ExcessHet=0;FS=3.467;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.94;MQRankSum=-12.95;QD=1.14;ReadPosRankSum=1.17;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,17:181:99:0|1:13416326_C_G:220,0,6835:13416326	18	0	1	0
chr1	13416398	13416398	G	A	exonic	PRAMEF20	.	nonsynonymous SNV	PRAMEF20:NM_001099852:exon2:c.G44A:p.R15Q	.	434	1071	17	0	0	17	0.00787402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.000954738595631	.	0.000798722	0.0044	0	0	0	0	0.0083	.	0	0.0001537	4	26028	rs535426833	0.0024	0.0024	0.0025	0.0023	0.0030	0.0024	0.0023	0.0030	0.0029	0.0013	0.0003	0	0.0002	7.488e-05	0.0009	0.0030	0.0013	1.16e-05	0.0015	0.0050	0.0018	0.0012	0.0025	0.0014	0.0013	0.0022	0.0021	0.0010	0	0.0009	0	0	9.579e-05	0	0.0025	0.0014	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.917481	0.08510	N	0.958104	1	0.08975	N	.	.	.	2.95	0.09635	T	0.96	0.01488	N	0.062	0.03392	-0.9645	0.38310	T	0.007	0.02244	T	8	0.0063766837	0.00144	T	9.55E-4	0.00957	T	0.011	0.01250	.	.	0.0138822411134	0.00435	0.19450107170321504	0.19368	.	.	0.374819844961	0.21521	T	0.004103	0.03512	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.00914196568871131	0.00115	T	0.134887	0.01066	T	0.03570078	0.04252	0.041647475	0.04782	0.03570078	0.04251	0.041647475	0.04782	-1.743	0.02345	T	.	.	0.072	0.04436	B	.;.	.;.	0.294538	0.06705	3.213	0.44568382939539153	0.03436	0.00056	0.00418	N	AEFI	0.021635	0.00985	N	-1.25016189529583	0.04297	0.1936879	-1.35657874606101	0.03728	0.1745389	1.60029541903202E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.55	-2.74	0.05582	-0.353000	0.07740	-13.626000	0.00448	-0.308000	0.06107	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.4376:0.0:0.3125:0.2499	2.103	0.03461	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	191.33	34	chr1	13416398	.	G	A	191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.414;DP=807;ExcessHet=0;FS=3.421;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.97;MQRankSum=-13.14;QD=1.03;ReadPosRankSum=0.676;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,17:186:99:0|1:13416326_C_G:205,0,7045:13416326	18	0	1	0
chr1	13416415	13416415	G	C	exonic	PRAMEF20	.	nonsynonymous SNV	PRAMEF20:NM_001099852:exon2:c.G61C:p.E21Q	.	426	1084	12	0	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000469852561305	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199792661	6.842e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	1.327e-05	0.0026	2.594e-05	0	6.616e-05	2.21e-06	8.3e-07	.	.	2.411e-05	0	6.616e-05	0	0	0	0	0	0	0	0.628	0.05183	T	0.411	0.14500	T	.	.	.	.	.	.	0.292666	0.14740	N	0.662450	1	0.08975	N	.	.	.	3.25	0.06762	T	-0.49	0.15578	N	0.062	0.03502	-0.9818	0.34585	T	0.009	0.03271	T	8	0.052461863	0.05283	T	4.7E-4	0.00124	T	0.062	0.17934	0.612	0.74535	0.0138822411134	0.00435	0.2718259259719314	0.27095	.	.	0.475276619196	0.35408	T	0.026643	0.19675	T	-0.445679	0.01197	T	-0.877963	0.00671	T	0.0246847622950291	0.01231	T	0.475352	0.14216	T	0.030638695	0.02761	0.026205024	0.00698	0.030638695	0.02760	0.026205024	0.00698	-3.0	0.10181	T	.	.	0.086	0.10739	B	.;.	.;.	-0.953561	0.00840	0.029	0.083430819691428529	0.00063	0.00161	0.00961	N	AEFI	0.028939	0.02640	N	-1.89533364157793	0.00351	0.01507821	-2.07015799919646	0.00216	0.009533919	0.0169436941713714	0.12893	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.55	-3.09	0.05006	-1.443000	0.02512	-6.191000	0.01470	-2.725000	0.00204	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3735:0.1983:0.4282:0.0	4.511	0.11320	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	101.33	34	chr1	13416415	.	G	C	101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.497;DP=807;ExcessHet=0;FS=3.752;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.15;MQRankSum=-13.09;QD=0.54;ReadPosRankSum=-0.808;SOR=1.035	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,15:186:99:0|1:13416326_C_G:115,0,7135:13416326	18	0	1	0
chr1	15743030	15743030	C	T	exonic	TMEM82	.	nonsynonymous SNV	TMEM82:NM_001013641:exon3:c.C172T:p.R58W	.	416	1064	42	0	0	42	0.0193548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0061	0.0061901	0.0096	0.0015	0.0039	0.0079	0.0198	0.0098	0.0156	0.0159	0.0084863	1312	154602	rs41268336	0.0071	0.0071	0.0066	0.0075	0.0358	0.0069	0.0069	0.0318	0.0302	0.0016	0.0053	0.0304	0.0052	0.0190	0.0358	0.0055	0.0099	0.0128	0.0075	0.0075	0.0068	0.0083	0.0122	0.0072	0.0070	0.0097	0.0088	0.0013	0	0.0095	0.0346	0.0044	0.0179	0.0068	0.0079	0.0076	0.0122	0.076	0.34269	T	0.069	0.43913	T	0.011	0.15914	B	0.004	0.10090	B	0.416818	0.12923	N	0.700302	1	0.08975	N	1.225	0.30651	L	0.76	0.49919	T	-1.83	0.42957	N	0.198	0.21839	-1.0080	0.27541	T	0.068	0.27811	T	10	0.0028403401	0.00045	T	.	.	.	0.023	0.04649	.	.	0.162503812791	0.15892	0.35341392069255745	0.35255	0.0807614276133	0.09089	0.368093073368	0.20558	T	0.004755	0.04164	T	-0.535976	0.00354	T	-0.530993	0.19186	T	0.00778028463944119	0.00091	T	0.629237	0.24427	T	0.04985793	0.08919	0.04880238	0.07325	0.04985793	0.08918	0.04880238	0.07325	-4.335	0.28664	T	.	.	0.105	0.19235	B	.	.	1.933616	0.24560	16.44	0.98000223640494366	0.37468	0.04926	0.10681	N	AEFDBI	0.300197	0.40904	N	-0.899056620431752	0.10864	0.5213339	-0.978936530448902	0.10259	0.5155346	0.999397073029582	0.39470	0.608966	0.35542	0	0.547309	0.14657	0	0.769059	0.98459	0	0.664235	0.64389	0	.	.	4.18	-0.643	0.10906	-1.266000	0.02950	0.229000	0.16167	0.599000	0.40250	0.000000	0.06391	0.866000	0.27540	0.065000	0.16320	0.4184:0.3953:0.0:0.1863	4.422	0.10912	783	0.47268	.	.	.	.	.	rs41268336	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025706	0.000000	0.017711	0.061404	0.000000	0.034483	0.018293	0.026515	0.05263	3804.83	38	chr1	15743030	.	C	T	3804.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.71;DP=944;ExcessHet=0.119;FS=2.426;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=1.79;SOR=0.559	GT:AD:DP:GQ:PL	0/1:71,91:162:99:2179,0,1520	17	0	2	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4737	51491.3	662	chr1	16563946	.	C	T	51491.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.392;DP=11359;ExcessHet=38.2876;FS=1.376;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.03;MQRankSum=-9.117;QD=4.97;ReadPosRankSum=0.26;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:638,78:716:99:.:.:521,0,19161:.	1	0	18	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.4737	58952.3	662	chr1	16563989	.	G	C	58952.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.668;DP=14939;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.58;MQRankSum=-4.89;QD=4.25;ReadPosRankSum=-0.231;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:888,108:996:99:.:.:606,0,24719:.	1	0	18	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.3684	71661.2	958	chr1	16564107	.	T	G	71661.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-2.161;DP=14138;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=55.61;MQRankSum=5.16;QD=6.56;ReadPosRankSum=0.876;SOR=0.755	GT:AD:DP:GQ:PL	0/1:840,140:980:99:1533,0,29477	5	0	14	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	93987.4	684	chr1	16564144	.	C	T	93987.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.71;DP=11427;ExcessHet=48.2876;FS=0.565;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.33;MQRankSum=-18.63;QD=8.46;ReadPosRankSum=0.533;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:418,307:725:99:.:.:8097,0,12031:.	0	0	19	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	96026.4	662	chr1	16564149	.	C	T	96026.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.096;DP=10999;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.16;MQRankSum=6.94;QD=8.93;ReadPosRankSum=-0.939;SOR=0.695	GT:AD:DP:GQ:PL	0/1:613,97:710:99:1011,0,20783	0	0	19	0
chr1	16567206	16567206	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	322	1118	82	0	0	82	0.0353753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064	.	0.0160	0.0048	0.0096	0.0272	0.0122	0.0165	0.0178	0.0214	0.0128912	1993	154602	rs3927566	0.0011	0.0037	0.0011	0.0011	0.0053	0.0010	0.0010	0.0029	0.0022	0.0004	0.0006	0.0058	0.0011	0.0004	0.0053	0.0010	0.0017	0.0009	0.0003	0.0015	0.0004	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0003	0.0010	0.0007	0.0004	0	0.0004	0.0011	0.0003	.	.	.	0.141	0.40426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.21188	.	.	.	.	.	.	.	0.0049045384	0.00105	T	.	.	.	.	.	.	.	.	.	0.015363255238990382	0.01492	.	.	0.514282226562	0.40822	T	.	.	.	-0.544364	0.00315	T	-0.631423	0.10307	T	.	.	.	0.79622	0.43953	T	.	.	.	.	.	.	.	.	-4.885	0.35566	T	.	.	0.127	0.30318	B	.;.	.;.	1.264825	0.16631	12.66	0.42851535371219329	0.03186	0.01238	0.04371	N	AEFDBHCI	0.047698	0.08058	N	.	.	.	.	.	.	0.559270903784427	0.21400	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	.	.	.	-0.685000	0.05269	-1.776000	0.04747	-0.957000	0.01998	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.033898	0.020202	0.027174	0.012295	0.050000	0.034483	0.057927	0.049618	0.07895	2243.79	169	chr1	16567206	.	G	A	2243.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.29;DP=5661;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=58.11;MQRankSum=-4.446;QD=0.95;ReadPosRankSum=-0.587;SOR=0.778	GT:AD:DP:GQ:PL	0/1:921,159:1080:99:1731,0,23392	16	0	3	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.3158	4689.72	124	chr1	16577387	.	T	C	4689.72	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.98;DP=6175;ExcessHet=11.1788;FS=5.824;InbreedingCoeff=-0.4482;MLEAC=12;MLEAF=0.316;MQ=43.71;MQRankSum=-4.317;QD=1.07;ReadPosRankSum=-1.392;SOR=1.273	GT:AD:DP:GQ:PL	0/1:341,50:391:99:386,0,9533	7	0	12	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3947	6040.85	31	chr1	16579293	.	A	G	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=1.77;DP=1318;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.18;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.129;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,13:101:99:0|1:16579293_A_G:265,0,3656:16579293	4	0	15	0
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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3947	6040.85	31	chr1	16579294	.	T	C	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-5.638;DP=1314;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.15;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.044;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,13:101:99:0|1:16579293_A_G:265,0,3656:16579293	4	0	15	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.3421	3927.26	26	chr1	16579305	.	G	A	3927.26	.	AC=13;AF=0.342;AN=38;BaseQRankSum=3.46;DP=1255;ExcessHet=13.8672;FS=130.665;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.342;MQ=36.03;MQRankSum=0.61;QD=4.49;ReadPosRankSum=-0.348;SOR=6.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,12:101:99:0|1:16579305_G_A:232,0,3682:16579305	6	0	13	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.2895	1867.3	26	chr1	16579308	.	G	C	1867.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.811;DP=1250;ExcessHet=8.9063;FS=99.423;InbreedingCoeff=-0.4082;MLEAC=11;MLEAF=0.289;MQ=35.97;MQRankSum=0.588;QD=2.62;ReadPosRankSum=-0.44;SOR=7.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,12:102:99:0|1:16579305_G_A:229,0,3714:16579305	8	0	11	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	11605.2	33	chr1	16759590	.	G	GC	11605.2	.	AC=25;AF=0.658;AN=38;BaseQRankSum=4.81;DP=1524;ExcessHet=5.6906;FS=11.534;InbreedingCoeff=-0.2845;MLEAC=25;MLEAF=0.658;MQ=44.88;MQRankSum=-2.822;QD=9.07;ReadPosRankSum=-3.116;SOR=0.816	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1270,108,0	1	7	11	0
chr1	19683281	19683281	G	A	exonic	TMCO4	.	nonsynonymous SNV	TMCO4:NM_001349112:exon15:c.C1664T:p.T555I,TMCO4:NM_001349113:exon16:c.C1664T:p.T555I,TMCO4:NM_181719:exon16:c.C1664T:p.T555I,TMCO4:NM_001349114:exon17:c.C1664T:p.T555I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00606362847961	0.0004	0.000599042	0.0002	0.0022	0	0	0	0	0	0	0.0001682	26	154602	rs147916679	6.909e-05	6.909e-05	6.67e-05	7.151e-05	0.0022	5.78e-05	5.391e-05	0.0018	0.0016	0.0022	0	0	0	0	0	6.295e-06	0.0003	4.637e-05	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0004	0.0016	0.0015	0.0020	0	6.533e-05	0	0	0	0	0	0	0	0.196	0.20683	T	0.128	0.34959	T	0.0	0.02946	B	0.001	0.04355	B	0.909385	0.07406	N	1.047360	1	0.08975	N	0.425	0.12573	N	1.59	0.28836	T	-1.05	0.27463	N	0.015	0.00181	-1.0126	0.26101	T	0.028	0.11838	T	10	0.0043299496	0.00088	T	0.006064	0.15846	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.29699917040534185	0.29612	0.109546389189	0.12354	0.315559476614	0.12748	T	0.004333	0.03739	T	-0.678847	0.00049	T	-0.753441	0.03354	T	0.00406862965580875	0.00043	T	0.415058	0.10864	T	0.028174791	0.02114	0.037233103	0.03333	0.028174791	0.02114	0.037233103	0.03333	-4.718	0.33622	T	.	.	0.071	0.03736	B	.	.	0.316909	0.06918	3.458	0.56877147220818591	0.05647	0.02471	0.06932	N	AEFBI	0.076732	0.15444	N	-1.54218070723026	0.01580	0.06906251	-1.53710742562973	0.02066	0.09447034	0.75827734157922	0.23469	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.86	-0.49	0.11448	-0.211000	0.09336	1.366000	0.25918	-0.104000	0.15758	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.3888:0.0:0.4893:0.1218	6.044	0.18978	679	0.60090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2224.33	35	chr1	19683281	.	G	A	2224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.321;DP=766;ExcessHet=0;FS=0.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.24;ReadPosRankSum=0.535;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,57:100:99:0|1:19683281_G_A:2238,0,1574:19683281	18	0	1	0
chr1	19683282	19683282	T	A	exonic	TMCO4	.	nonsynonymous SNV	TMCO4:NM_001349112:exon15:c.A1663T:p.T555S,TMCO4:NM_001349113:exon16:c.A1663T:p.T555S,TMCO4:NM_181719:exon16:c.A1663T:p.T555S,TMCO4:NM_001349114:exon17:c.A1663T:p.T555S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00782672852581	0.0005	0.000599042	0.0002	0.0022	0	0	0	0	0	0	0.0001682	26	154602	rs140421144	6.43e-05	6.43e-05	6.398e-05	6.463e-05	0.0022	5.361e-05	4.976e-05	0.0018	0.0016	0.0022	0	0	0	0	0	1.799e-06	0.0003	2.319e-05	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0004	0.0017	0.0015	0.0020	0	6.549e-05	0	0	0	0	0	0	0	0.371	0.11514	T	0.264	0.22761	T	0.01	0.15535	B	0.006	0.12133	B	0.909385	0.07406	N	1.047360	1	0.81001	D	0.975	0.24501	L	1.53	0.30401	T	-0.18	0.09796	N	0.035	0.01004	-0.9963	0.30946	T	0.032	0.13767	T	10	0.0044903457	0.00092	T	0.007827	0.20773	T	0.029	0.06676	0.095	0.01241	0.0138822411134	0.00435	0.2087822265961476	0.20794	0.0921031887478	0.10402	0.283303678036	0.07957	T	0.001946	0.01356	T	-0.638286	0.00085	T	-0.695178	0.06093	T	0.00384488933348667	0.00041	T	0.341666	0.07415	T	0.043229222	0.06699	0.028889308	0.01168	0.043229222	0.06698	0.028889308	0.01168	-2.956	0.09715	T	.	.	0.075	0.05579	B	.	.	-0.214740	0.03016	0.459	0.56225160280624886	0.05507	0.13395	0.17832	N	AEFBI	0.140188	0.26201	N	-1.26689533235911	0.04081	0.1835094	-1.28049444874435	0.04694	0.2220224	0.731346814289818	0.23048	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.86	-0.0119	0.13315	-0.105000	0.10876	0.191000	0.15744	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4763:0.0:0.5237	7.900	0.28890	679	0.60090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2224.33	35	chr1	19683282	.	T	A	2224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.07;DP=768;ExcessHet=0;FS=0.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.24;ReadPosRankSum=1.25;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,57:100:99:0|1:19683281_G_A:2238,0,1574:19683281	18	0	1	0
chr1	22953389	22953389	T	A	exonic	LACTBL1	.	nonsynonymous SNV	LACTBL1:NM_001289974:exon8:c.A1394T:p.Y465F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195729155842	.	0.00219649	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs570848600	0.0002	0.0002	0.0002	0.0002	0.0086	0.0002	0.0002	0.0076	0.0072	0.0086	0.0006	0	0	0	0	4.359e-06	0.0007	5.135e-05	0.0025	0.0025	0.0027	0.0024	0.0089	0.0023	0.0022	0.0081	0.0079	0.0089	0	0.0005	0	0	0	0	0	0.0019	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.125	0.04555	N	.	.	.	.	.	.	0.135	0.13198	.	.	.	.	.	.	.	0.0058882236	0.00132	T	0.195729	0.86439	D	.	.	.	.	0.213573922156	0.20996	0.6309136918868198	0.63025	.	.	.	.	.	0.002896	0.02288	T	-0.56043	0.00252	T	-0.569833	0.15464	T	.	.	.	0.568643	0.20211	T	0.054551706	0.10480	0.12212492	0.29462	0.054551706	0.10480	0.12212492	0.29461	-3.403	0.15097	T	.	.	0.092	0.13503	B	.;.	.;.	1.266797	0.16649	12.68	0.90882158446906303	0.20131	0.42035	0.26789	N	AEFDBHCI	0.048849	0.08379	N	.	.	.	.	.	.	0.95200712055789	0.27990	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.49	-3.95	0.03844	0.954000	0.28772	0.063000	0.14158	0.557000	0.28285	1.000000	0.71638	0.955000	0.29136	0.848000	0.40082	0.5121:0.0:0.1203:0.3677	5.871	0.18053	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	865.33	29	chr1	22953389	.	T	A	865.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=686;ExcessHet=0;FS=0.973;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-1.078;SOR=0.957	GT:AD:DP:GQ:PL	0/1:30,32:62:99:879,0,726	18	0	1	0
chr1	23516471	23516471	G	C	exonic	E2F2	.	nonsynonymous SNV	E2F2:NM_004091:exon6:c.C909G:p.C303W	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	0.58119639477	.	.	8.796e-06	0	0	0	0	0	0	6.545e-05	6.5e-06	1	154602	rs769743094	7.546e-06	7.525e-06	4.095e-06	1.103e-05	0.0001	4.05e-06	2.96e-06	6.298e-05	4.795e-05	0	0	0	0	0	0	0	1.66e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.35	0.91085	M	-2.13	0.86349	D	-9.92	0.98753	D	0.916	0.91852	0.472	0.90143	D	0.765	0.92009	D	10	0.8874333	0.88075	D	0.581196	0.96248	D	0.784	0.92827	0.531	0.63855	0.908093480575	0.90717	0.7326146404880036	0.73206	1.24708654241	0.81708	0.783187329769	0.79409	T	0.472398	0.80469	T	0.237009	0.77379	D	0.367099	0.90966	D	0.996803164482117	0.90116	D	.	.	.	0.97607225	0.98796	0.95608133	0.98755	0.97607225	0.98796	0.95608133	0.98756	-15.499	0.96911	D	.	.	0.985	0.92281	P	.	.	3.989687	0.58709	24.0	0.99411045963183986	0.63263	0.91002	0.52669	D	AEFBCI	0.822882	0.74311	D	0.429424111868812	0.63048	4.531096	0.303241882980656	0.55730	3.73584	0.868884452246901	0.25374	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	4.9	1.99	0.25423	2.643000	0.46271	1.896000	0.29550	-0.186000	0.09761	1.000000	0.71638	1.000000	0.68203	0.843000	0.39806	0.3306:0.0:0.6694:0.0	7.880	0.28777	364	0.84707	E2F transcription factor, CC-MB domain|E2F transcription factor, CC-MB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	889.33	33	chr1	23516471	.	G	C	889.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.402;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.512;SOR=0.646	GT:AD:DP:GQ:PL	0/1:36,35:71:99:903,0,957	18	0	1	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7332.91	43	chr1	26282357	.	CTGGGGCCGGG	*	7332.91	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.79;DP=974;ExcessHet=0.0637;FS=12.324;InbreedingCoeff=0.3518;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.699;SOR=1.5	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,16:44:99:0|1:26282334_TGGGGCCG_T:514,0,951:26282334	9	4	6	0
chr1	26282384	26282405	GGGCCGGGACCGGGACCGGGAC	-	exonic	UBXN11	.	frameshift deletion	UBXN11:NM_001077262:exon11:c.1097_1118del:p.C366Sfs*34,UBXN11:NM_145345:exon15:c.1358_1379del:p.C453Sfs*34,UBXN11:NM_183008:exon16:c.1457_1478del:p.C486Sfs*34	.	382	803	290	46	1	383	0.192153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0097	0.0729	0.0043	0	0	0.0044	0.0094	0	0.0001537	4	26028	rs762635882	0.0020	0.0018	0.0022	0.0018	0.0510	0.0019	0.0019	0.0478	0.0465	0.0510	0.0036	0.0186	0	0	0.0090	0.0004	0.0068	0.0002	0.0092	0.0090	0.0092	0.0093	0.0350	0.0087	0.0085	0.0331	0.0323	0.0350	0	0.0046	0.0088	0	0	0.0053	0.0005	0.0094	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	993.49	37	chr1	26282383	.	GGGGCCGGGACCGGGACCGGGAC	G	993.49	.	AC=1;AF=0.036;AN=28;BaseQRankSum=0.041;DP=1069;ExcessHet=0.0278;FS=15.846;InbreedingCoeff=0.1828;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=-0.087;SOR=0.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,31:62:99:0|1:26282380_ACT_A:1004,0,943:26282380	13	0	1	5
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4062	7050.5	37	chr1	26282386	.	GCCGGGA	*	7050.5	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.405;DP=1110;ExcessHet=0.1862;FS=10.987;InbreedingCoeff=0.0738;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=1.39;SOR=0.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,31:62:99:0|1:26282380_ACT_A:1004,0,943:26282380	7	4	5	3
chr1	30968359	30968359	A	G	exonic	PUM1	.	nonsynonymous SNV	PUM1:NM_001020658:exon11:c.T1640C:p.M547T,PUM1:NM_014676:exon11:c.T1640C:p.M547T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00466071807528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.78490	D	0.373	0.42976	T	0.99	0.63424	D	0.943	0.67921	D	0.000000	0.84330	D	0.037908	0.999997	0.58761	D	1.24	0.30952	L	2.29	0.18083	T	-2.09	0.48523	N	0.485	0.59648	-1.1435	0.01232	T	0.091	0.34928	T	10	0.33329615	0.50521	T	0.004661	0.11566	T	0.180	0.45073	0.297	0.26202	0.110392049598	0.10638	0.5996395349103022	0.59894	0.868767990995	0.69325	0.848411917686	0.89374	D	0.031207	0.51454	T	-0.0125823	0.49902	T	-0.25585	0.49236	T	0.861843049526215	0.51220	D	0.974403	0.91204	D	0.67831075	0.76878	0.61479557	0.77580	0.67831075	0.76879	0.61479557	0.77581	-8.859	0.68013	D	.	.	0.698	0.75024	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.745213	0.76564	26.5	0.99318785206797	0.59317	0.99773	0.99362	D	AEFDBHI	0.921556	0.89521	D	0.60749967524852	0.73647	6.000622	0.674933193178663	0.80480	7.308158	0.999999999999832	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.87	5.87	0.94266	9.155000	0.93856	11.196000	0.88846	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	1.0:0.0:0.0:0.0	16.576	0.84532	946	0.12043	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	864.33	35	chr1	30968359	.	A	G	864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.934;DP=705;ExcessHet=0;FS=3.804;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.923;SOR=1.356	GT:AD:DP:GQ:PL	0/1:32,35:67:99:878,0,903	18	0	1	0
chr1	31815206	31815206	G	A	exonic	SPOCD1	.	nonsynonymous SNV	SPOCD1:NM_001281987:exon2:c.C128T:p.P43L,SPOCD1:NM_144569:exon2:c.C128T:p.P43L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	0.00299521	0.0012	0	0	0.0001	0	0	0.0011	0.0089	0.0010802	167	154602	rs201180859	0.0005	0.0005	0.0003	0.0007	0.0080	0.0005	0.0005	0.0075	0.0073	0	0	0	0.0001	0	0.0003	1.174e-05	0.0007	0.0080	0.0003	0.0003	0.0002	0.0004	0.0093	0.0002	0.0002	0.0072	0.0064	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0093	0.002	0.72154	D	0.009	0.66756	D	0.035	0.23051	B	0.007	0.17743	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.76	0.25996	T	-1.77	0.41809	N	0.115	0.10340	-1.0211	0.23357	T	0.036	0.15726	T	9	0.0039680004	0.00076	T	.	.	.	0.049	0.13647	0.147	0.05039	0.112648838833	0.10856	0.13778246354056656	0.13702	0.151239746874	0.17072	0.29333627224	0.09411	T	0.018298	0.14778	T	-0.621381	0.00108	T	-0.658666	0.08357	T	0.0182966789058894	0.00548	T	0.528347	0.17454	T	0.030406425	0.02698	0.04805582	0.07055	0.030406425	0.02698	0.04805582	0.07055	-4.135	0.25819	T	.	.	0.085	0.22933	B	.;.	.;.	1.243718	0.16399	12.51	0.98582436689080466	0.43258	0.02013	0.06052	N	AEFDBI	0.047460	0.07993	N	-1.22447668081256	0.04647	0.2101809	-1.26572620158806	0.04902	0.2323485	0.99955634951253	0.40362	0.487112	0.14033	0	0.573888	0.26702	0	0.442705	0.06548	1	0.613276	0.41899	0	.	.	3.58	-0.712	0.10661	0.028000	0.13533	0.809000	0.21733	-0.113000	0.14837	0.000000	0.06391	0.005000	0.19230	0.000000	0.00833	0.2211:0.183:0.4083:0.1876	0.871	0.01137	523	0.74147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1078.33	45	chr1	31815206	.	G	A	1078.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.57;DP=801;ExcessHet=0;FS=1.853;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.123;SOR=0.981	GT:AD:DP:GQ:PL	0/1:41,38:79:99:1092,0,997	18	0	1	0
chr1	33864536	33864536	C	A	exonic	HMGB4	.	nonsynonymous SNV	HMGB4:NM_001379301:exon1:c.C345A:p.N115K,HMGB4:NM_001352984:exon2:c.C123A:p.N41K,HMGB4:NM_145205:exon2:c.C345A:p.N115K	.	427	1076	19	0	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	.	0.0078	0.00698882	0.0094	0.0023	0.0032	0	0.0127	0.0119	0.0044	0.0122	0.0091137	1409	154602	rs61769874	0.0098	0.0098	0.0096	0.0099	0.0106	0.0096	0.0096	0.0104	0.0103	0.0015	0.0046	0.0092	2.519e-05	0.0093	0.0097	0.0105	0.0097	0.0106	0.0079	0.0079	0.0079	0.0080	0.0117	0.0076	0.0074	0.0110	0.0108	0.0020	0.0011	0.0071	0.0092	0	0.0116	0.0170	0.0117	0.0090	0.0087	0.027	0.46513	D	0.029	0.54541	D	.	.	.	.	.	.	0.000049	0.53742	D	0.118681	1	0.81001	D	3.01	0.86067	M	-4.9	0.98333	D	-3.41	0.67129	D	0.392	0.43320	0.818	0.94637	D	0.915	0.97197	D	10	0.0122460425	0.00264	T	.	.	.	0.621	0.85301	0.651	0.78858	0.909459114912	0.90855	0.22794373970563533	0.22709	0.0582104493871	0.06448	0.61914151907	0.55608	T	0.625388	0.88318	D	-0.302978	0.08382	T	-0.19566	0.55057	T	0.0551873799059558	0.06388	T	0.546045	0.18695	T	0.32978013	0.55453	0.29031798	0.55054	0.32978013	0.55453	0.29031798	0.55053	-4.847	0.35134	T	.	.	0.513	0.65167	A	.;.	.;.	1.936107	0.24588	16.45	0.99433507769984386	0.64374	0.30851	0.24188	N	AEFBI	0.152684	0.27740	N	-0.164568584820478	0.34616	1.978042	-0.339843534843139	0.26825	1.484254	0.304339413000223	0.19222	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.43	-1.44	0.08391	-1.080000	0.03517	-2.560000	0.03608	-0.204000	0.08590	0.013000	0.18845	0.000000	0.08366	0.904000	0.43992	0.0:0.481:0.0:0.519	9.033	0.35431	334	0.86273	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box 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	0.010574	0.005051	0.014946	0.000000	0.000000	0.017241	0.009146	0.015152	0.02632	2408.33	49	chr1	33864536	.	C	A	2408.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.834;DP=1004;ExcessHet=0;FS=1.16;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.938;SOR=0.762	GT:AD:DP:GQ:PL	0/1:87,92:179:99:2422,0,2220	18	0	1	0
chr1	34904518	34904518	A	G	exonic	DLGAP3	.	nonsynonymous SNV	DLGAP3:NM_001080418:exon3:c.T866C:p.L289P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0117384771228	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1476436871	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.279	0.21745	T	0.976	0.58310	D	0.454	0.46241	P	0.002023	0.37411	N	0.225081	0.999648	0.48019	D	-0.46	0.02758	N	1.7	0.26885	T	-1.09	0.28290	N	0.501	0.53357	-1.0697	0.09479	T	0.039	0.16720	T	10	0.27593318	0.45154	T	0.011738	0.29664	T	0.089	0.25827	0.418	0.45873	0.338449385132	0.33456	0.3248692378308054	0.32399	1.4171152166	0.85547	0.782598495483	0.79320	T	0.186637	0.53999	T	-0.114446	0.34035	T	-0.305316	0.44159	T	0.521301436974325	0.33413	D	0.557244	0.19380	T	0.36240822	0.58019	0.30812934	0.56832	0.36240822	0.58019	0.30812934	0.56831	-2.482	0.05660	T	.	.	0.072	0.04477	B	.;.	.;.	3.459489	0.48208	22.6	0.99571984211089315	0.72440	0.89241	0.49588	D	AEFBI	0.500851	0.53394	D	0.16054859040743	0.49312	3.133065	0.262242807899625	0.53348	3.504289	0.010861745728636	0.12094	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.02	5.02	0.66742	2.510000	0.45129	8.135000	0.76666	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.039	0.71434	914	0.21048	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1165.33	37	chr1	34904518	.	A	G	1165.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.26;DP=786;ExcessHet=0;FS=6.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-1.136;SOR=1.016	GT:AD:DP:GQ:PL	0/1:82,53:135:99:1179,0,2273	18	0	1	0
chr1	41017856	41017856	A	G	exonic	SLFNL1	.	nonsynonymous SNV	SLFNL1:NM_001377532:exon2:c.T736C:p.Y246H,SLFNL1:NM_144990:exon3:c.T736C:p.Y246H,SLFNL1:NM_001168247:exon4:c.T736C:p.Y246H,SLFNL1:NM_001300859:exon4:c.T559C:p.Y187H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0140003824864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000031	0.55875	D	0.000000	0.891976	0.35973	D	3.12	0.87914	M	1.44	0.32722	T	-4.53	0.78976	D	0.812	0.82660	-0.6791	0.61414	T	0.178	0.52303	T	10	0.889616	0.88301	D	0.014	0.33816	T	0.311	0.63269	0.756	0.88567	0.223146558224	0.21909	0.8178825998930872	0.81745	0.371378250836	0.38636	0.744432866573	0.73625	T	0.105089	0.41524	T	0.148335	0.69113	D	-0.024703	0.68720	D	0.99433559179306	0.85562	D	0.810819	0.48098	T	0.40010822	0.60740	0.479108	0.69829	0.40010822	0.60740	0.479108	0.69829	-9.453	0.70566	D	.	.	0.950	0.88586	P	.;.;.;.;.	.;.;.;.;.	4.460877	0.69433	25.4	0.99749953013701442	0.84152	0.83403	0.42523	D	AEFGBHCI	0.495956	0.53110	N	0.585906666347896	0.72295	5.783172	0.53400450822337	0.70291	5.483876	0.999999905326813	0.74766	0.460665	0.09802	0	0.577304	0.33150	0	0.575934	0.27490	0	0.508809	0.08732	0	.	.	5.42	5.42	0.78666	4.612000	0.60873	9.408000	0.80685	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	1.0:0.0:0.0:0.0	11.858	0.51728	645	0.63593	Schlafen, AAA domain;.;Schlafen, AAA domain;.;Schlafen, AAA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1708.33	35	chr1	41017856	.	A	G	1708.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.499;DP=776;ExcessHet=0;FS=4.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=2.02;SOR=0.936	GT:AD:DP:GQ:PL	0/1:53,63:116:99:1722,0,1648	18	0	1	0
chr1	43361123	43361123	G	A	exonic	CDC20	.	nonsynonymous SNV	CDC20:NM_001255:exon9:c.G1081A:p.V361I	.	417	1076	27	2	0	31	0.0142006	.	.	.	696753	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.080	.	0.0062	0.00459265	0.0079	0.0014	0.0012	0	0.0110	0.0079	0.0088	0.0192	0.0071797	1110	154602	rs1801456	0.0071	0.0071	0.0067	0.0074	0.0179	0.0070	0.0069	0.0172	0.0169	0.0010	0.0018	0.0039	2.519e-05	0.0115	0.0089	0.0068	0.0070	0.0179	0.0051	0.0051	0.0048	0.0054	0.0201	0.0048	0.0046	0.0169	0.0157	0.0017	0	0.0016	0.0043	0	0.0104	0.0068	0.0065	0.0033	0.0201	0.105	0.29823	T	0.159	0.31527	T	0.238	0.30817	B	0.094	0.30180	B	0.000001	0.84330	D	0.056219	0.999924	0.51308	D	-0.11	0.04642	N	0.14	0.60854	T	0.66	0.02297	N	0.21	0.23380	-1.0025	0.29197	T	0.106	0.38808	T	10	0.01017648	0.00228	T	.	.	.	0.080	0.23350	.	.	0.723900465636	0.72146	0.07991430450505897	0.07926	0.297608200637	0.32142	0.58004963398	0.50092	T	0.083725	0.37119	T	-0.443023	0.01241	T	-0.394868	0.33984	T	0.00911748794720931	0.00115	T	0.924008	0.72230	D	0.14421554	0.33111	0.11717394	0.28287	0.14421554	0.33111	0.11717394	0.28287	-3.099	0.11285	T	.	.	0.078	0.07841	B	.;.	.;.	2.999769	0.40076	21.1	0.98976858905928555	0.49660	0.89519	0.50035	D	AEFDBCI	0.500914	0.53397	D	-0.00508198642710518	0.41625	2.493116	0.184953470666326	0.49021	3.11054	0.999999999938571	0.74766	0.645754	0.44609	0	0.685571	0.66316	0	0.696144	0.63334	0	0.638787	0.57140	0	.	.	5.64	5.64	0.86480	2.908000	0.48448	11.910000	0.99563	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.0:1.0:0.0	19.687	0.95979	774	0.48577	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	0	0	1	0	0.009063	0.000000	0.009511	0.008772	0.000000	0.000000	0.015244	0.011364	0.02632	1684.33	38	chr1	43361123	.	G	A	1684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=813;ExcessHet=0;FS=2.592;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=0.224;SOR=0.978	GT:AD:DP:GQ:PL	0/1:43,59:102:99:1698,0,1004	18	0	1	0
chr1	43671834	43671834	G	A	exonic	KDM4A	.	nonsynonymous SNV	KDM4A:NM_014663:exon11:c.G1693A:p.G565R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00626211718336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.19854	T	0.522	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	0.791596	0.06715	N	1.087340	0.998777	0.21918	N	0.205	0.09354	N	1.02	0.40749	T	0.24	0.04533	N	0.049	0.02088	-1.0168	0.24755	T	0.044	0.18783	T	10	0.058356553	0.06847	T	0.006262	0.16435	T	0.036	0.09122	0.292	0.25400	0.043077524339	0.03247	0.4027323192104857	0.40189	0.707067738463	0.61477	0.311822444201	0.12182	T	0.010829	0.09734	T	-0.292843	0.09352	T	-0.658425	0.08373	T	0.0416540226404582	0.03991	T	0.717928	0.33070	T	0.017377587	0.00268	0.043021288	0.05258	0.017377587	0.00268	0.043021288	0.05258	-2.925	0.09396	T	.	.	0.136	0.29670	B	.	.	1.848447	0.23484	16.03	0.70108996518127797	0.09188	0.82217	0.41478	D	AEFDBHCI	0.098641	0.19872	N	-0.767603733899983	0.14159	0.7031153	-0.620226622019427	0.18973	1.015978	0.999715691858579	0.42101	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	3.26	0.36471	1.572000	0.36070	3.574000	0.39134	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.583000	0.30967	0.1481:0.1428:0.7091:0.0	7.504	0.26702	569	0.70546	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	950.33	37	chr1	43671834	.	G	A	950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=803;ExcessHet=0;FS=3.993;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=-1.622;SOR=1.154	GT:AD:DP:GQ:PL	0/1:62,39:101:99:964,0,1690	18	0	1	0
chr1	44138746	44138746	C	G	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.G2886C:p.R962S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs558560418	7.714e-05	3.658e-05	4.938e-05	0.0001	0.0056	5.027e-05	4.197e-05	0.0036	0.0029	0	0	0	0	0	0.0008	6.327e-06	0	0.0056	0.0001	0.0001	7.71e-05	0.0002	0.0035	8.164e-05	6.721e-05	0.0022	0.0018	0	0	0	0	0	0	0	2.94e-05	0	0.0035	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.28146	.	.	.	.	.	.	.	0.041375577	0.02788	T	.	.	.	.	.	.	.	.	.	0.25256225932879484	0.25170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290471	0.05292	T	0.21067025	0.43370	0.26587	0.52426	0.21067025	0.43370	0.26587	0.52425	-8.642	0.65365	D	.	.	0.874	0.81093	P	.	.	1.832111	0.23276	15.96	0.62349396124657264	0.06940	0.11880	0.16920	N	AEFBI	.	.	.	.	.	.	.	.	.	1.14772244678311E-5	0.02871	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0443366	0.03230	3.88	2.97	0.33479	1.202000	0.31878	0.658000	0.20477	0.433000	0.20966	0.131000	0.23362	0.281000	0.24108	0.021000	0.11733	0.0:0.8863:0.0:0.1137	7.777	0.28205	220	0.91454	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1308.33	33	chr1	44138746	.	C	G	1308.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.292;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=1.04;SOR=0.71	GT:AD:DP:GQ:PL	0/1:63,50:113:99:1322,0,1703	18	0	1	0
chr1	47148753	47148753	C	T	exonic	CYP4A22	.	nonsynonymous SNV	CYP4A22:NM_001010969:exon12:c.C1516T:p.L506F	.	416	1010	94	2	0	98	0.0462701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	.	0.0085	0.00878594	0.0102	0.0088	0.0061	0	0.0005	0.0061	0.0113	0.0416	0.0090426	1398	154602	rs61736430	0.0078	0.0078	0.0068	0.0088	0.0391	0.0077	0.0076	0.0380	0.0376	0.0094	0.0069	0.0086	2.519e-05	0.0006	0.0193	0.0058	0.0098	0.0391	0.0078	0.0078	0.0074	0.0082	0.0340	0.0074	0.0073	0.0298	0.0282	0.0088	0	0.0118	0.0075	0	0.0004	0.0034	0.0062	0.0076	0.0340	0.001	0.78490	D	0.003	0.76473	D	0.983	0.60381	D	0.917	0.65306	D	0.000250	0.46924	D	0.139605	1	0.08975	N	3.185	0.88900	M	-0.89	0.74793	T	-2.6	0.63090	D	0.27	0.36779	-0.6509	0.62675	T	0.344	0.70940	T	10	0.006461054	0.00146	T	.	.	.	0.272	0.58758	.	.	.	.	0.6044885089393155	0.60379	0.784704493341	0.65455	0.381250858307	0.22433	T	0.136	0.46876	T	-0.494442	0.00614	T	-0.45444	0.27208	T	0.0607866177424227	0.07291	T	0.787421	0.54241	T	0.42484096	0.62412	0.3200535	0.57963	0.42484096	0.62413	0.3200535	0.57962	-3.301	0.13750	T	.	.	0.218	0.44847	B	.;.;.	.;.;.	3.186690	0.43278	21.7	0.98604990409770055	0.43559	0.01778	0.05572	N	AEFBI	0.211497	0.33728	N	-0.312845371961962	0.28660	1.582626	-0.564413672780458	0.20423	1.100303	0.00114662903407456	0.08272	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	1.69	1.69	0.23290	-0.188000	0.09638	0.991000	0.23192	0.439000	0.21057	0.002000	0.15269	0.611000	0.25768	0.010000	0.09038	0.0:0.864:0.0:0.136	8.230	0.30750	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	0.014099	0.000000	0.009511	0.014620	0.000000	0.008621	0.018293	0.026515	0.1053	12346.4	33	chr1	47148753	.	C	T	12346.4	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.19;DP=1681;ExcessHet=0.0101;FS=3.342;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=57.02;MQRankSum=-3.75;QD=17.61;ReadPosRankSum=0.773;SOR=0.964	GT:AD:DP:GQ:PL	0/1:121,116:237:99:3079,0,4511	16	1	2	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	11397.8	13	chr1	50419106	.	G	*	11397.8	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.18;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=8;MLEAF=0.211;MQ=59.95;MQRankSum=0;QD=28.28;ReadPosRankSum=0.367;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,14:18:99:1|0:50419101_CCGGCGG_C:986,158,125:50419101	11	0	8	0
chr1	53825820	53825820	T	C	exonic	NDC1	.	nonsynonymous SNV	NDC1:NM_001168551:exon5:c.A452G:p.Y151C,NDC1:NM_018087:exon5:c.A572G:p.Y191C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0466947008728	7.7e-05	.	3.3e-05	0	0	0	0.0002	4.5e-05	0	0	2.59e-05	4	154602	rs374201897	6.245e-06	6.156e-06	5.517e-06	6.982e-06	0.0002	2.94e-06	2.13e-06	7.2e-07	2e-07	0	0	3.914e-05	0	3.751e-05	0.0002	2.712e-06	1.675e-05	1.245e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	1.0	0.90584	D	0.998	0.88582	D	0.000020	0.62929	D	0.124032	0.999997	0.81001	D	2.485	0.72352	M	0.87	0.46412	T	-4.83	0.80943	D	0.907	0.90818	-0.8095	0.54581	T	0.206	0.56499	T	10	0.8391105	0.83065	D	0.046695	0.62578	D	0.405	0.71791	.	.	0.369524611565	0.36568	0.82580054534949	0.82538	0.626399599102	0.56774	0.791769206524	0.80712	T	0.16578	0.51176	T	0.0745269	0.61394	D	-0.0608854	0.66271	T	0.94803661108017	0.62808	D	0.947205	0.79675	D	0.474918	0.65591	0.44664493	0.67772	0.474918	0.65592	0.44664493	0.67772	-7.114	0.54861	T	.	.	0.303	0.53229	B	.	.	4.376251	0.67413	25.1	0.99836263749920184	0.91714	0.99535	0.97177	D	AEFBI	0.747248	0.68936	D	0.606703653961117	0.73599	5.992338	0.61146835692942	0.75770	6.369969	0.999497313969056	0.40007	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.26	5.26	0.73479	6.389000	0.73129	7.939000	0.75402	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.517	0.75568	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	987.33	34	chr1	53825820	.	T	C	987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.109;DP=702;ExcessHet=0;FS=1.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=1.43;SOR=0.818	GT:AD:DP:GQ:PL	0/1:34,40:74:99:1001,0,812	18	0	1	0
chr1	56886031	56886031	G	T	exonic	C8A	.	nonsynonymous SNV	C8A:NM_000562:exon7:c.G960T:p.E320D	C8 deficiency, type I, Autosomal recessive	0	1506	15	1	0	17	0.00561241	.	.	.	696805	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.349	0.0607853204078	0.0012	0.000798722	0.0018	0.0002	0.0008	0	0.0002	0.0016	0.0011	0.0058	0.0016429	254	154602	rs147513844	0.0018	0.0018	0.0016	0.0020	0.0061	0.0018	0.0017	0.0057	0.0055	0.0003	0.0007	3.827e-05	0	0.0001	0.0028	0.0018	0.0016	0.0061	0.0012	0.0012	0.0012	0.0011	0.0037	0.0010	0.0010	0.0024	0.0020	0.0002	0	0.0010	0	0	0.0003	0.0034	0.0019	0.0005	0.0037	0.258	0.16683	T	0.302	0.20228	T	0.545	0.37995	P	0.324	0.41853	B	0.000000	0.84330	D	0.088480	0.98512	0.40239	D	2.205	0.62170	M	-1.83	0.84122	D	-1.68	0.40082	N	0.104	0.08786	-0.5478	0.66870	T	0.453	0.78644	T	10	0.0158647	0.00333	T	0.060785	0.68116	D	0.349	0.67049	0.436	0.48828	0.875609160862	0.87439	0.5981419899965553	0.59745	0.0629304990889	0.07006	0.401931136847	0.25337	T	0.03553	0.23754	T	-0.442803	0.01245	T	-0.406221	0.32662	T	0.0434296188685264	0.04317	T	0.759724	0.38410	T	0.51760286	0.68122	0.32596713	0.58508	0.51760286	0.68123	0.32596713	0.58507	-3.493	0.16334	T	.	.	0.126	0.26794	B	.	.	1.467790	0.18910	13.99	0.99188904747875573	0.54906	0.85427	0.44558	D	AEFI	0.742564	0.68615	D	-0.340645287048607	0.27617	1.516683	-0.306852004701799	0.27876	1.550035	0.00225419971606588	0.09270	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.04	-0.0504	0.13160	0.139000	0.15858	1.539000	0.27214	-0.106000	0.15538	0.979000	0.35152	1.000000	0.68203	0.876000	0.41813	0.4361:0.1098:0.4542:0.0	7.003	0.24002	939	0.14249	Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.011364	0.05263	2973.83	33	chr1	56886031	.	G	T	2973.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.301;DP=888;ExcessHet=0.119;FS=0.439;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.896;SOR=0.743	GT:AD:DP:GQ:PL	0/1:74,73:147:99:1893,0,1874	17	0	2	0
chr1	69994621	69994621	A	G	exonic	LRRC7	.	nonsynonymous SNV	LRRC7:NM_001350216:exon11:c.A995G:p.N332S,LRRC7:NM_001366838:exon11:c.A992G:p.N331S,LRRC7:NM_001370785:exon11:c.A992G:p.N331S,LRRC7:NM_001330635:exon12:c.A893G:p.N298S,LRRC7:NM_001366839:exon12:c.A893G:p.N298S,LRRC7:NM_001366841:exon12:c.A893G:p.N298S	.	450	1034	35	3	0	41	0.0194405	.	.	.	3886586	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.125	.	0.0087	0.00698882	0.0068	0.0152	0.0101	0	0.0009	0.0076	0.0144	0.0012	0.0067399	1042	154602	rs72676879	0.0053	0.0054	0.0053	0.0054	0.0790	0.0052	0.0052	0.0730	0.0706	0.0133	0.0112	0.0253	0	0.0010	0.0790	0.0044	0.0114	0.0013	0.0087	0.0087	0.0087	0.0086	0.0139	0.0083	0.0081	0.0130	0.0126	0.0139	0	0.0122	0.0199	0.0002	0.0005	0.1130	0.0058	0.0213	0.0004	0.073	0.36113	T	0.045	0.49390	D	0.367	0.34030	B	0.263	0.39594	B	0.000003	0.62929	D	0.100641	0.999829	0.81001	D	-0.31	0.03598	N	2.03	0.23884	T	-2.15	0.48687	N	0.396	0.43706	-1.0139	0.25688	T	0.021	0.08639	T	10	0.0067400336	0.00153	T	.	.	.	0.125	0.34456	.	.	0.559688537222	0.55629	0.5185816699323756	0.51781	2.17053411201	0.95497	0.640680670738	0.58661	T	0.028058	0.58333	T	-0.624144	0.00104	T	-0.657639	0.08426	T	0.0289290178431819	0.01827	T	0.936906	0.76326	D	0.15675013	0.35358	0.25773692	0.51495	0.15675013	0.35357	0.25773692	0.51494	-6.629	0.51274	T	.	.	0.065	0.01884	B	.;.	.;.	3.026350	0.40527	21.2	0.99803771616151216	0.88817	0.85774	0.44944	D	AEFBHCI	0.900326	0.84573	D	0.0587109992476847	0.44544	2.726515	0.226869211476675	0.51344	3.31772	0.999999973006373	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.662026	0.63922	0	.	.	5.4	5.4	0.77957	8.358000	0.89989	6.174000	0.54533	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.872000	0.41544	1.0:0.0:0.0:0.0	14.894	0.70271	913	0.21160	.;.	.	.	.	.	.	Likely benign	0	0	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	0.072077	0.158163	0.082880	0.099415	0.100000	0.068966	0.009146	0.007576	0.02632	1601.33	35	chr1	69994621	.	A	G	1601.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.416;DP=777;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-1.152;SOR=0.716	GT:AD:DP:GQ:PL	0/1:58,70:128:99:1615,0,1255	18	0	1	0
chr1	76868678	76868678	A	G	exonic	ST6GALNAC5	.	nonsynonymous SNV	ST6GALNAC5:NM_001320273:exon2:c.A197G:p.Q66R,ST6GALNAC5:NM_001320274:exon2:c.A197G:p.Q66R,ST6GALNAC5:NM_030965:exon2:c.A197G:p.Q66R	.	376	1129	16	1	0	18	0.00790861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0005	0.00219649	0.0050	0.0007	0.0027	0	0	0.0018	0	0.0111	0.0013971	216	154602	rs143010807	0.0016	0.0016	0.0013	0.0018	0.0208	0.0015	0.0015	0.0178	0.0166	0.0011	0.0019	0.0009	5.453e-05	0.0001	0.0208	0.0011	0.0021	0.0088	0.0015	0.0015	0.0014	0.0016	0.0098	0.0013	0.0013	0.0075	0.0068	0.0003	0	0.0023	0.0014	0.0002	0.0002	0.0171	0.0017	0.0024	0.0098	0.818	0.02974	T	0.592	0.08161	T	0.0	0.02946	B	0.001	0.04355	B	0.879119	0.07224	N	1.058050	0.999999	0.08975	N	0.69	0.16971	N	1.8	0.25344	T	-0.09	0.08340	N	0.072	0.04547	-0.9746	0.36213	T	0.017	0.06902	T	10	0.0040742457	0.00080	T	.	.	.	0.040	0.10527	.	.	0.0675242888579	0.06100	0.24362056139935523	0.24276	0.365251766803	0.38123	0.643308639526	0.59035	T	0.003651	0.03060	T	-0.709402	0.00032	T	-0.786375	0.02266	T	0.000591769945659934	0.00005	T	0.256074	0.03980	T	0.051826894	0.09575	0.068529576	0.14323	0.051826894	0.09575	0.068529576	0.14323	-3.171	0.12129	T	.	.	0.066	0.02285	B	.	.	1.920179	0.24388	16.38	0.5886146095808017	0.06090	0.23561	0.22116	N	AEFDBCIJ	0.114398	0.22533	N	-0.864118029501418	0.11704	0.5662958	-0.793534210565514	0.14654	0.7667593	0.999976067596103	0.50053	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.37	2.33	0.27981	0.765000	0.26211	3.148000	0.36512	-0.260000	0.06918	0.339000	0.25666	0.999000	0.35428	0.897000	0.43391	0.5458:0.3315:0.1227:0.0	8.102	0.30022	915	0.20917	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029474	0.005208	0.037088	0.071429	0.050000	0.045455	0.012346	0.015152	0.02632	275.33	34	chr1	76868678	.	A	G	275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.778;DP=678;ExcessHet=0;FS=2.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.06;ReadPosRankSum=0.937;SOR=0.297	GT:AD:DP:GQ:PL	0/1:25,14:39:99:289,0,679	18	0	1	0
chr1	89114144	89114144	C	T	exonic	GBP2	.	nonsynonymous SNV	GBP2:NM_004120:exon7:c.G1021A:p.V341M	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00546475089272	0.0038	0.000399361	0.0042	0.0012	0.0022	0	0.0100	0.0060	0	0.0001	0.0041009	634	154602	rs147615005	0.0055	0.0055	0.0056	0.0053	0.0064	0.0054	0.0053	0.0062	0.0062	0.0008	0.0017	0	0	0.0095	0.0010	0.0064	0.0051	0.0001	0.0040	0.0040	0.0041	0.0038	0.0064	0.0037	0.0036	0.0059	0.0057	0.0011	0.0088	0.0022	0	0	0.0067	0.0068	0.0064	0.0047	0	0.043	0.41364	D	0.077	0.42436	T	0.953	0.54283	P	0.9	0.63913	P	0.430099	0.12759	U	0.612950	0.999783	0.20372	N	3.12	0.87914	M	4.28	0.02487	T	-2.18	0.49187	N	0.1	0.08227	-1.0029	0.29080	T	0.011	0.04274	T	10	0.005997449	0.00135	T	0.005465	0.14045	T	0.065	0.18881	.	.	0.197625483188	0.19356	0.05866540553369189	0.05807	0.424400540773	0.42871	0.449562400579	0.31884	T	0.108587	0.42174	T	-0.620938	0.00109	T	-0.660286	0.08247	T	0.0786442239477069	0.09812	T	0.816518	0.47234	T	0.071964584	0.15972	0.13160858	0.31600	0.071964584	0.15972	0.13160858	0.31599	-6.703	0.51833	T	.	.	0.153	0.33913	B	.	.	2.514069	0.32476	19.05	0.99802585090619844	0.88728	0.04356	0.09925	N	AEFBI	0.062638	0.12053	N	0.0310254316872676	0.43269	2.623285	-0.150773086500086	0.33378	1.90872	0.0025131035725993	0.09495	0.706548	0.73137	0	0.659464	0.62310	0	0.315538	0.05692	2	0.714379	0.83352	0	.	.	3.85	0.702	0.17269	-0.137000	0.10369	-4.883000	0.01942	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.846000	0.39970	0.1763:0.371:0.3453:0.1075	2.655	0.04704	721	0.55360	Guanylate-binding protein/Atlastin, C-terminal|Guanylate-binding protein, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	3008.33	44	chr1	89114144	.	C	T	3008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=826;ExcessHet=0;FS=1.819;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.651;SOR=0.556	GT:AD:DP:GQ:PL	0/1:86,98:184:99:3022,0,2482	18	0	1	0
chr1	93589233	93589233	C	T	exonic	BCAR3	.	nonsynonymous SNV	BCAR3:NM_001261410:exon3:c.G400A:p.D134N,BCAR3:NM_001261409:exon5:c.G673A:p.D225N,BCAR3:NM_003567:exon5:c.G673A:p.D225N,BCAR3:NM_001261408:exon7:c.G673A:p.D225N	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.163934530145	0.0008	0.00259585	0.0022	0.0003	0.0019	0.0001	0.0002	0.0017	0.0023	0.0079	0.0023674	366	154602	rs61752468	0.0033	0.0033	0.0033	0.0033	0.0079	0.0032	0.0032	0.0074	0.0072	0.0007	0.0029	0.0002	5.038e-05	0.0001	0.0003	0.0034	0.0029	0.0079	0.0020	0.0020	0.0019	0.0021	0.0085	0.0018	0.0017	0.0064	0.0057	0.0005	0	0.0037	0	0	9.413e-05	0	0.0026	0.0024	0.0085	0.015	0.65419	D	0.01	0.66756	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.02	0.55341	M	-0.12	0.64630	T	-3.6	0.69357	D	0.705	0.72209	-0.3462	0.73664	T	0.335	0.70182	T	10	0.015360057	0.00322	T	0.163935	0.84316	D	0.334	0.65620	.	.	0.589048170169	0.58580	0.49233589602185934	0.49154	0.579608724245	0.53821	0.626676380634	0.56673	T	0.63529	0.88748	D	-0.382417	0.03008	T	-0.317527	0.42845	T	0.0380211163019986	0.03336	T	0.90041	0.67324	D	0.68894804	0.77455	0.60521066	0.77052	0.68894804	0.77456	0.60521066	0.77053	-7.895	0.60352	D	.	.	0.263	0.49797	B	.;.;.;.	.;.;.;.	5.012553	0.83247	28.0	0.99915407526168964	0.98379	0.96588	0.69894	D	AEFBCI	0.769774	0.70493	D	0.664037717561759	0.77279	6.644504	0.638860344409482	0.77784	6.746436	0.999999999999665	0.74766	0.722319	0.85440	0	0.708844	0.79440	0	0.67347	0.61138	0	0.735409	0.98432	0	.	.	4.75	4.75	0.59954	5.621000	0.67420	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.108	0.89455	278	0.89047	.;SH2 domain|SH2 domain|SH2 domain;SH2 domain|SH2 domain|SH2 domain;SH2 domain|SH2 domain|SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1374.33	34	chr1	93589233	.	C	T	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=766;ExcessHet=0;FS=7.897;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=1.57;SOR=0.78	GT:AD:DP:GQ:PL	0/1:77,57:134:99:1388,0,1807	18	0	1	0
chr1	102987714	102987714	T	A	exonic	COL11A1	.	nonsynonymous SNV	COL11A1:NM_080630:exon28:c.A2073T:p.R691S,COL11A1:NM_001190709:exon29:c.A2304T:p.R768S,COL11A1:NM_001854:exon30:c.A2421T:p.R807S,COL11A1:NM_080629:exon30:c.A2457T:p.R819S	Fibrochondrogenesis 1, Autosomal recessive;Marshall syndrome, Autosomal dominant;Stickler syndrome, type II, Autosomal dominant	1	1505	14	2	0	18	0.00594452	.	.	.	1192668	Retinal_dystrophy|Hearing_loss,_autosomal_dominant_37|not_provided	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0032802,MedGen:C4760307,OMIM:618533|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1729.33	39	chr1	102987714	.	T	A	1729.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.068;DP=754;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=1.31;SOR=0.66	GT:AD:DP:GQ:PL	0/1:65,66:131:99:1743,0,1649	18	0	1	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2941	1618.97	110	chr1	109508616	.	G	C	1618.97	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.579;DP=1667;ExcessHet=6.9875;FS=173.456;InbreedingCoeff=-0.4061;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.36;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,22:93:99:.:.:131,0,1627:.	7	0	10	2
chr1	109608722	109608722	C	T	exonic	GNAT2	.	nonsynonymous SNV	GNAT2:NM_005272:exon4:c.G370A:p.V124M,GNAT2:NM_001377295:exon5:c.G370A:p.V124M,GNAT2:NM_001379232:exon5:c.G370A:p.V124M	Achromatopsia 4	0	1512	9	1	0	11	0.00362438	.	.	.	194412	GNAT2-related_disorder|Retinal_dystrophy|not_specified|not_provided|Achromatopsia_4	.|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013465,MedGen:C1841721,OMIM:613856,Orphanet:49382	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.335	0.0446554630595	0.0045	0.00259585	0.0054	0.0009	0.0021	0	0.0032	0.0075	0.0066	0.0061	0.0055821	863	154602	rs41280330	0.0069	0.0069	0.0070	0.0069	0.0079	0.0068	0.0068	0.0077	0.0077	0.0010	0.0022	0.0036	0	0.0042	0.0059	0.0079	0.0067	0.0061	0.0044	0.0044	0.0045	0.0043	0.0075	0.0041	0.0040	0.0065	0.0063	0.0012	0	0.0032	0.0020	0.0004	0.0030	0	0.0071	0.0043	0.0075	0.046	0.40573	D	0.065	0.44702	T	0.99	0.63424	D	0.738	0.55619	P	0.005516	0.32736	N	0.287924	0.868387	0.35516	D	1.63	0.41750	L	-2.43	0.88689	D	-0.41	0.14000	N	0.426	0.46555	0.530	0.90961	D	0.714	0.90196	D	10	0.008829892	0.00200	T	0.044655	0.61597	D	0.335	0.65718	.	.	0.921974883161	0.92118	0.8104456628994533	0.80999	0.354423072536	0.37217	0.497574865818	0.38490	T	0.423673	0.77435	T	-0.23169	0.16426	T	-0.096188	0.63691	T	0.0494856905650249	0.05409	T	0.973003	0.90263	D	0.19789441	0.41672	0.24691439	0.50211	0.18797	0.40274	0.24691439	0.50210	-5.791	0.44496	T	0.2074948243035606	0.27734	0.243	0.47697	B	.	.	4.155617	0.62368	24.4	0.99895602382781312	0.96895	0.91798	0.54285	D	AEFBI	0.437475	0.49726	N	0.562450296784154	0.70845	5.56152	0.525014713537541	0.69678	5.394781	0.99998920776304	0.51787	0.421363	0.06395	0	0.550933	0.16991	0	0.491513	0.07944	0	0.664235	0.64389	0	.	.	4.69	4.69	0.58546	2.020000	0.40630	7.667000	0.64568	0.599000	0.40250	0.897000	0.31356	1.000000	0.68203	0.842000	0.39752	0.0:1.0:0.0:0.0	17.774	0.88411	851	0.35303	.	.	.	.	.	.	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	0.005035	0.000000	0.002717	0.014620	0.000000	0.000000	0.000000	0.003788	0.05263	4667.83	38	chr1	109608722	.	C	T	4667.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.22;DP=1007;ExcessHet=0.119;FS=0.369;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.473;SOR=0.655	GT:AD:DP:GQ:PL	0/1:110,103:213:99:2668,0,2515	17	0	2	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G,KCNC4:NM_001377330:exon2:c.C692G:p.A231G,KCNC4:NM_004978:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2216.57	41	chr1	110222977	.	C	G	2216.57	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.991;DP=2097;ExcessHet=6.9875;FS=75.345;InbreedingCoeff=-0.4467;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=1.23;SOR=10.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,23:126:99:0|1:110222977_C_G:195,0,3922:110222977	7	0	10	2
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C,KCNC4:NM_001377330:exon2:c.C695G:p.S232C,KCNC4:NM_004978:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	2139.97	41	chr1	110222980	.	C	G	2139.97	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.477;DP=2106;ExcessHet=8.9063;FS=71.671;InbreedingCoeff=-0.4138;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=1.45;SOR=10.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,23:131:99:0|1:110222977_C_G:180,0,4039:110222977	8	0	11	0
chr1	110222982	110222982	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C697G:p.L233V,KCNC4:NM_001377330:exon2:c.C697G:p.L233V,KCNC4:NM_004978:exon2:c.C697G:p.L233V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.146920177704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	0.11919	T	0.578	0.10643	T	0.008	0.27402	B	0.057	0.26280	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.105	0.28596	L	-4.42	0.97469	D	-1.47	0.35991	N	0.715	0.71765	0.475	0.90190	D	0.781	0.92551	D	10	0.67977595	0.71209	D	0.14692	0.82899	D	0.597	0.84019	0.507	0.60232	0.970349058238	0.97003	0.7767111040505488	0.77621	2.1969115238	0.95663	0.860170543194	0.91136	D	0.382192	0.74433	T	0.19509	0.73434	D	0.0424575	0.73088	D	0.898567736148834	0.55069	D	0.959204	0.87416	D	0.3946045	0.60357	0.26400998	0.52214	0.3946045	0.60357	0.26400998	0.52213	-7.933	0.60613	D	.	.	0.865	0.82233	P	.;.;.	.;.;.	3.881184	0.56413	23.7	0.97300471871801075	0.33275	0.99055	0.90567	D	AEFDGBI	0.882603	0.81085	D	-0.0424401364828146	0.39940	2.363618	0.150967903423767	0.47194	2.953265	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	6.148000	0.71557	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	940.8	41	chr1	110222982	.	C	G	940.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-5.687;DP=1389;ExcessHet=1.3;FS=68.969;InbreedingCoeff=-0.1515;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=1.39;SOR=8.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,23:131:99:0|1:110222977_C_G:180,0,4039:110222977	16	0	3	0
chr1	110952465	110952465	A	G	exonic	LRIF1	.	nonsynonymous SNV	LRIF1:NM_018372:exon2:c.T419C:p.V140A	.	430	1088	4	0	0	4	0.00183486	.	.	.	2446481	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00886887868906	0.0003	.	0.0002	0	8.642e-05	0	0	0.0003	0.0022	0.0004	0.0002005	31	154602	rs201655335	0.0003	0.0003	0.0003	0.0003	0.0040	0.0002	0.0002	0.0027	0.0023	8.976e-05	0.0003	0.0002	0	0	0.0040	0.0003	0.0006	0.0003	0.0002	0.0002	0.0003	0.0001	0.0006	0.0002	0.0001	0.0002	0.0002	7.218e-05	0	0.0003	0	0	0	0.0034	0.0003	0.0005	0.0006	0.061	0.37118	T	0.065	0.44702	T	0.72	0.42342	P	0.199	0.36804	B	0.168718	0.17439	N	0.576857	1	0.81001	D	2.075	0.57047	M	1.7	0.26885	T	-1.92	0.44657	N	0.316	0.35620	-1.0714	0.09108	T	0.018	0.07470	T	10	0.12570333	0.23891	T	0.008869	0.23390	T	0.071	0.20720	.	.	0.544128928594	0.54067	0.2851283183614188	0.28425	0.310774122975	0.33387	0.361511290073	0.19606	T	0.106701	0.41826	T	-0.308024	0.07923	T	-0.374255	0.36393	T	0.0626669222613495	0.07582	T	0.651635	0.26249	T	0.07202821	0.15990	0.097700395	0.23264	0.07202821	0.15990	0.097700395	0.23264	-3.883	0.22047	T	0.27236191356485245	0.36620	0.189	0.40666	B	.	.	3.194201	0.43412	21.7	0.9802900168334836	0.37697	0.92382	0.55582	D	AEFBI	0.398094	0.47391	N	0.103321837947183	0.46616	2.899365	0.233417617093266	0.51710	3.351324	0.995260246022875	0.34034	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.65	4.46	0.53567	3.374000	0.52132	4.602000	0.44001	0.691000	0.84096	0.996000	0.39380	1.000000	0.68203	0.997000	0.79791	0.815:0.185:0.0:0.0	9.085	0.35741	629	0.65079	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.008152	0.008772	0.000000	0.008621	0.003049	0.000000	0.02632	1490.33	39	chr1	110952465	.	A	G	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=797;ExcessHet=0;FS=4.807;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=0.358;SOR=1.185	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1504,0,1490	18	0	1	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	2088.26	101	chr1	112913901	.	C	G	2088.26	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.359;DP=1774;ExcessHet=17.0548;FS=69.726;InbreedingCoeff=-0.5826;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=1.26;SOR=10.398	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,28:108:99:0|1:112913900_A_G:620,0,2894:112913900	5	0	14	0
chr1	114732647	114732647	A	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.T914C:p.V305A,CSDE1:NM_001242892:exon9:c.T1007C:p.V336A,CSDE1:NM_007158:exon9:c.T914C:p.V305A,CSDE1:NM_001007553:exon10:c.T1007C:p.V336A,CSDE1:NM_001130523:exon10:c.T1052C:p.V351A,CSDE1:NM_001242891:exon11:c.T1145C:p.V382A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.00156139043317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.604e-05	0.0003	2.364e-05	8.399e-06	1.933e-05	1.069e-05	8.93e-06	1.242e-05	1.054e-05	0	0	0	0	0	0	1.933e-05	3.368e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.004	0.74150	D	0.083	0.24734	B	0.038	0.23361	B	0.000054	0.53742	D	0.166893	0.999516	0.50595	D	0.345	0.11182	N	.	.	.	-1.63	0.40274	N	0.533	0.56403	-1.0477	0.15045	T	0.058	0.24428	T	9	0.31444314	0.48886	T	0.001561	0.02471	T	0.227	0.52620	0.356	0.35734	0.484031237447	0.48032	0.6591811775958599	0.65855	1.01023712014	0.74737	0.715481638908	0.69388	T	0.194949	0.55088	T	0.0626786	0.59948	T	-0.147743	0.59443	T	0.79146121837727	0.45785	D	0.891811	0.69967	D	0.14498597	0.33255	0.20398682	0.44501	0.14498597	0.33255	0.20398682	0.44501	-10.916	0.81785	D	.	.	0.800	0.77278	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.426471	0.68609	25.3	0.9977654716377653	0.86346	0.97154	0.73007	D	AEFBCI	0.912326	0.87280	D	0.0162420309121575	0.42593	2.569352	0.258817730721698	0.53151	3.485614	0.999995702308975	0.74766	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	8.947000	0.92735	11.305000	0.92359	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	1.0:0.0:0.0:0.0	16.290	0.82575	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	129.33	33	chr1	114732647	.	A	G	129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.73;DP=858;ExcessHet=0;FS=137.693;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=2.1;SOR=7.824	GT:AD:DP:GQ:PL	0/1:99,23:122:99:143,0,2821	18	0	1	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	6987.05	189	chr1	114732648	.	C	G	6987.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.206;DP=2914;ExcessHet=25.4433;FS=278.375;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=1.01;SOR=12.498	GT:AD:DP:GQ:PL	0/1:79,23:115:99:208,0,2678	3	0	16	0
chr1	117092779	117092779	G	A	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon18:c.G2854A:p.E952K	.	422	1084	16	0	0	16	0.00732601	.	.	.	706616	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.500	.	0.0078	0.00479233	0.0072	0.0012	0.0043	0	0.0020	0.0113	0.0066	0.0024	0.0071215	1101	154602	rs41306197	0.0078	0.0078	0.0077	0.0079	0.0121	0.0077	0.0076	0.0099	0.0090	0.0014	0.0050	0.0384	0	0.0015	0.0121	0.0082	0.0099	0.0022	0.0069	0.0069	0.0075	0.0063	0.0096	0.0065	0.0064	0.0090	0.0088	0.0015	0.0636	0.0065	0.0366	0	0.0008	0.0102	0.0096	0.0133	0.0019	0.039	0.42487	D	0.128	0.34959	T	1.0	0.90584	D	0.998	0.88582	D	0.001813	0.37945	N	0.000000	1	0.81001	D	2.91	0.84121	M	-2.29	0.87591	D	-1.37	0.33998	N	0.647	0.65844	0.222	0.86288	D	0.691	0.89345	D	10	0.009188026	0.00208	T	.	.	.	0.500	0.78350	.	.	0.94980648375	0.94927	0.40208463991760734	0.40124	0.774771022593	0.64964	0.594895720482	0.52183	T	0.023315	0.17820	T	-0.230493	0.16584	T	-0.0928324	0.63949	T	0.0267691115987556	0.01512	T	0.935306	0.75759	D	0.1221448	0.28709	0.118917234	0.28704	0.1221448	0.28708	0.118917234	0.28703	-12.071	0.85195	D	.	.	0.270	0.50370	B	.	.	4.847000	0.79187	27.1	0.99905566058912054	0.97651	0.98527	0.83734	D	AEFDGBCIJ	0.901852	0.84905	D	0.630458009251532	0.75108	6.24836	0.56580612014504	0.72504	5.820292	0.999999999999484	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.698795	0.65105	0	0.648885	0.59868	0	.	.	5.06	5.06	0.67838	8.857000	0.91856	11.537000	0.93115	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.253000	0.23340	0.0:0.0:1.0:0.0	13.794	0.62652	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015106	0.025253	0.021739	0.002924	0.050000	0.000000	0.009146	0.007576	0.02632	2246.33	34	chr1	117092779	.	G	A	2246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.37;DP=798;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.142;SOR=0.666	GT:AD:DP:GQ:PL	0/1:85,94:179:99:2260,0,2276	18	0	1	0
chr1	118041939	118041939	T	C	exonic	SPAG17	.	nonsynonymous SNV	SPAG17:NM_206996:exon21:c.A2918G:p.D973G	.	420	1100	1	1	0	3	0.00136178	.	.	.	3216479	SPAG17-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0043	0.00339457	0.0014	0.0147	0.0008	0	0	1.499e-05	0	6.057e-05	0.0012548	194	154602	rs77499057	0.0004	0.0004	0.0005	0.0004	0.0150	0.0004	0.0004	0.0139	0.0135	0.0150	0.0006	0	0	0	0.0002	1.079e-05	0.0008	5.797e-05	0.0042	0.0042	0.0043	0.0041	0.0147	0.0040	0.0039	0.0138	0.0134	0.0147	0	0.0014	0	0	0	0	1.471e-05	0.0033	0.0002	0.19	0.21144	T	0.421	0.14075	T	0.002	0.09854	B	0.003	0.08700	B	0.992552	0.08020	N	0.996046	0.983938	0.24843	N	1.59	0.40313	L	1.59	0.28836	T	-1.78	0.42001	N	0.191	0.20925	-0.9815	0.34655	T	0.021	0.08870	T	10	0.0028544962	0.00046	T	.	.	.	0.032	0.07718	.	.	0.218845423259	0.21516	0.09151254515074642	0.09084	0.217145519961	0.24230	0.33987402916	0.16420	T	0.006395	0.05823	T	-0.664987	0.00059	T	-0.71566	0.05008	T	0.00727946505167347	0.00083	T	0.526647	0.17353	T	0.101428054	0.23959	0.13892849	0.33165	0.101428054	0.23959	0.13892849	0.33164	-4.031	0.24266	T	0.2406513122920933	0.32597	0.091	0.12985	B	.	.	1.919789	0.24382	16.38	0.91179185837820309	0.20434	0.17768	0.19979	N	AEFI	0.136277	0.25689	N	-0.619056978286743	0.18373	0.9533136	-0.556005971211559	0.20647	1.113321	0.00266810245753975	0.09616	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.36	2.88	0.32617	1.356000	0.33683	1.127000	0.24293	0.665000	0.62972	0.067000	0.21986	0.660000	0.26011	0.548000	0.30127	0.0:0.0799:0.1534:0.7667	6.659	0.22195	592	0.68746	.	.	.	.	.	.	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	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3298.33	33	chr1	118041939	.	T	C	3298.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.37;DP=878;ExcessHet=0;FS=0.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.703;SOR=0.738	GT:AD:DP:GQ:PL	0/1:123,136:259:99:3312,0,2957	18	0	1	0
chr1	118086984	118086984	C	T	exonic	SPAG17	.	nonsynonymous SNV	SPAG17:NM_206996:exon11:c.G1384A:p.V462I	.	427	1093	2	0	0	2	0.000914077	.	.	.	3205104	SPAG17-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.037	.	0.0044	0.00359425	0.0014	0.0150	0.0007	0.0001	0	3.036e-05	0	0.0001	0.0012807	198	154602	rs116790674	0.0004	0.0004	0.0004	0.0004	0.0149	0.0004	0.0004	0.0138	0.0134	0.0149	0.0007	4.157e-05	0	0	0.0004	2.192e-05	0.0008	7.478e-05	0.0042	0.0042	0.0043	0.0041	0.0147	0.0040	0.0039	0.0138	0.0134	0.0147	0	0.0015	0	0	0	0.0034	1.47e-05	0.0033	0.0002	0.517	0.07330	T	0.332	0.18449	T	0.022	0.18677	B	0.005	0.11217	B	0.944780	0.07618	N	1.023550	0.999999	0.08975	N	0	0.06538	N	2.3	0.16953	T	-0.2	0.10136	N	0.055	0.02658	-0.9158	0.46116	T	0.007	0.02558	T	10	0.0035664141	0.00064	T	.	.	.	0.037	0.09474	.	.	0.126345400529	0.12197	0.10973474977052637	0.10902	0.0430706364013	0.04641	0.271704554558	0.06365	T	0.001579	0.01021	T	-0.753001	0.00017	T	-0.841437	0.01077	T	0.00370525809031965	0.00039	T	0.582242	0.21111	T	0.02979545	0.02535	0.02422162	0.00439	0.02979545	0.02534	0.02422162	0.00439	-2.986	0.10031	T	0.14644804612351828	0.16893	0.084	0.09578	B	.	.	1.223444	0.16175	12.37	0.95593467345342686	0.27319	0.03491	0.08658	N	AEFBI	0.047998	0.08143	N	-0.912678579790807	0.10544	0.5043955	-0.863839787901048	0.12954	0.6694101	1.20029141449753E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.06	-0.596	0.11072	-0.023000	0.12403	-0.176000	0.11179	0.549000	0.26987	0.039000	0.20931	0.000000	0.08366	0.757000	0.36037	0.0:0.2836:0.3454:0.3711	4.032	0.09196	654	0.62520	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	886.33	33	chr1	118086984	.	C	T	886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=655;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.7;ReadPosRankSum=0.11;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,23:45:99:0|1:118086976_G_A:900,0,846:118086976	18	0	1	0
chr1	143905733	143905735	CTC	-	exonic	H3-2	.	nonframeshift deletion	H3-2:NM_001355409:exon1:c.232_234del:p.E78del,H3-2:NM_001372105:exon1:c.232_234del:p.E78del	.	51	1470	1	0	0	1	0.00034002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00259585	0.0010	0.0124	0.0003	0	0	0	0	6.243e-05	0.0009508	147	154602	rs587670188	0.0004	0.0004	0.0005	0.0003	0.0160	0.0004	0.0004	0.0149	0.0144	0.0160	0.0005	0	0	0	0.0005	5.51e-06	0.0007	0.0001	0.0040	0.0040	0.0046	0.0034	0.0139	0.0038	0.0037	0.0129	0.0126	0.0139	0	0.0013	0	0	0	0	4.539e-05	0.0020	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2937.29	33	chr1	143905732	.	ACTC	A	2937.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.41;DP=816;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.96;MQRankSum=-10.26;QD=17.69;ReadPosRankSum=0.895;SOR=0.714	GT:AD:DP:GQ:PL	0/1:89,77:166:99:2951,0,3486	18	0	1	0
chr1	144435839	144435839	C	G	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon6:c.G508C:p.D170H,NBPF15:NM_001385448:exon6:c.G508C:p.D170H,NBPF15:NM_001385405:exon7:c.G508C:p.D170H,NBPF15:NM_001385447:exon7:c.G508C:p.D170H,NBPF15:NM_001385410:exon8:c.G508C:p.D170H,NBPF15:NM_001385413:exon8:c.G508C:p.D170H,NBPF15:NM_001385416:exon8:c.G508C:p.D170H,NBPF15:NM_001385432:exon8:c.G508C:p.D170H,NBPF15:NM_001385438:exon8:c.G508C:p.D170H,NBPF15:NM_001385446:exon8:c.G508C:p.D170H,NBPF15:NM_001385407:exon9:c.G508C:p.D170H,NBPF15:NM_001385418:exon9:c.G508C:p.D170H,NBPF15:NM_001385424:exon9:c.G508C:p.D170H,NBPF15:NM_001385427:exon9:c.G508C:p.D170H,NBPF15:NM_001385439:exon9:c.G508C:p.D170H,NBPF15:NM_001385440:exon9:c.G508C:p.D170H,NBPF15:NM_001385443:exon9:c.G508C:p.D170H,NBPF15:NM_001385445:exon9:c.G508C:p.D170H,NBPF15:NM_001385376:exon10:c.G508C:p.D170H,NBPF15:NM_001385377:exon10:c.G508C:p.D170H,NBPF15:NM_001385403:exon10:c.G508C:p.D170H,NBPF15:NM_001385404:exon10:c.G508C:p.D170H,NBPF15:NM_001385409:exon10:c.G508C:p.D170H,NBPF15:NM_001385411:exon10:c.G508C:p.D170H,NBPF15:NM_001385414:exon10:c.G508C:p.D170H,NBPF15:NM_001385441:exon10:c.G508C:p.D170H,NBPF15:NM_173638:exon10:c.G508C:p.D170H,NBPF15:NM_001385373:exon11:c.G508C:p.D170H,NBPF15:NM_001385374:exon11:c.G508C:p.D170H,NBPF15:NM_001385375:exon11:c.G508C:p.D170H,NBPF15:NM_001385408:exon11:c.G508C:p.D170H,NBPF15:NM_001385412:exon11:c.G508C:p.D170H,NBPF15:NM_001385415:exon11:c.G508C:p.D170H,NBPF15:NM_001385420:exon11:c.G508C:p.D170H,NBPF15:NM_001385423:exon11:c.G508C:p.D170H,NBPF15:NM_001385430:exon11:c.G508C:p.D170H,NBPF15:NM_001385431:exon11:c.G508C:p.D170H,NBPF15:NM_001385433:exon11:c.G508C:p.D170H,NBPF15:NM_001385434:exon11:c.G508C:p.D170H,NBPF15:NM_001385436:exon11:c.G508C:p.D170H,NBPF15:NM_001385442:exon11:c.G508C:p.D170H,NBPF15:NM_001385444:exon11:c.G508C:p.D170H,NBPF15:NM_001385378:exon12:c.G508C:p.D170H,NBPF15:NM_001385406:exon12:c.G508C:p.D170H,NBPF15:NM_001385419:exon12:c.G508C:p.D170H,NBPF15:NM_001385421:exon12:c.G508C:p.D170H,NBPF15:NM_001385422:exon12:c.G508C:p.D170H,NBPF15:NM_001385425:exon12:c.G508C:p.D170H,NBPF15:NM_001385428:exon12:c.G508C:p.D170H,NBPF15:NM_001385429:exon12:c.G508C:p.D170H,NBPF15:NM_001385435:exon12:c.G508C:p.D170H,NBPF15:NM_001385437:exon12:c.G508C:p.D170H,NBPF15:NM_001170755:exon13:c.G508C:p.D170H,NBPF15:NM_001385426:exon13:c.G508C:p.D170H	.	465	910	147	0	0	147	0.0747331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.331e-05	8.551e-05	0	2.723e-05	4.948e-05	2.21e-06	8.3e-07	8.2e-06	3.07e-06	4.948e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	0.02839	T	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	0.072508216	0.10832	T	.	.	.	.	.	.	.	.	.	0.02086796461604304	0.02039	.	.	.	.	.	0.035888	0.23893	T	.	.	.	.	.	.	.	.	.	0.874313	0.58483	D	.	.	.	.	.	.	.	.	-7.302	0.56210	T	.	.	0.149	0.32945	B	.;.;.	.;.;.	0.829778	0.12010	8.569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.760000	0.01905	-4.297000	0.02231	-3.345000	0.00094	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	159.83	76	chr1	144435839	.	C	G	159.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.51;DP=1342;ExcessHet=0.119;FS=4.349;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=31.08;MQRankSum=-2.82;QD=0.89;ReadPosRankSum=2.48;SOR=1.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,9:86:99:0|1:144435839_C_G:146,0,3125:144435839	17	0	2	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1581.67	33	chr1	145872713	.	C	G	1581.67	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.79;DP=2324;ExcessHet=8.9063;FS=153.011;InbreedingCoeff=-0.4246;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.037;SOR=11.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,29:139:21:0|1:145872713_C_G:21,0,3240:145872713	8	0	11	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D,ANKRD35:NM_144698:exon10:c.G2055C:p.E685D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1091.56	162	chr1	145872714	.	C	G	1091.56	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.472;DP=2468;ExcessHet=6.9875;FS=132.372;InbreedingCoeff=-0.388;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=0.29;SOR=11.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,29:139:21:0|1:145872713_C_G:21,0,3240:145872713	9	0	10	0
chr1	145899064	145899064	C	T	exonic	ITGA10	.	nonsynonymous SNV	ITGA10:NM_001303041:exon13:c.G1675A:p.A559T,ITGA10:NM_001303040:exon14:c.G1711A:p.A571T,ITGA10:NM_003637:exon17:c.G2104A:p.A702T	.	423	1070	27	2	0	31	0.0142791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.00317430332807	.	.	.	.	.	.	.	.	.	.	.	.	.	rs35515885	0.0035	0.0035	0.0034	0.0036	0.0243	0.0034	0.0034	0.0210	0.0198	0.0045	0.0060	0.0215	5.038e-05	0.0011	0.0243	0.0031	0.0062	0.0011	0.0046	0.0047	0.0050	0.0042	0.0064	0.0044	0.0042	0.0054	0.0050	0.0044	0	0.0064	0.0242	0.0002	0.0011	0.0272	0.0043	0.0104	0.0006	0.074	0.34621	T	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	0.50192	T	-1.48	0.36189	N	0.137	0.14338	.	.	.	.	.	.	.	0.012380809	0.00266	T	.	.	.	.	.	.	.	.	.	0.9765553922096653	0.97645	.	.	.	.	.	0.056132	0.30201	T	.	.	.	.	.	.	.	.	.	0.875312	0.58632	D	.	.	.	.	.	.	.	.	-9.059	0.68121	D	.	.	0.141	0.30920	B	.;.	.;.	3.764463	0.54031	23.4	.	.	.	.	.	.	0.225467	0.34955	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.890000	0.48308	7.593000	0.61311	0.596000	0.33519	0.990000	0.36992	1.000000	0.68203	0.710000	0.34452	.	.	.	934	0.15400	Integrin alpha-2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3982.83	35	chr1	145899064	.	C	T	3982.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.75;DP=1308;ExcessHet=0.119;FS=0.817;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.373;SOR=0.645	GT:AD:DP:GQ:PL	0/1:89,81:170:99:2132,0,2275	17	0	2	0
chr1	146960159	146960159	G	A	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon7:c.G16A:p.G6S	.	534	986	2	0	0	2	0.00101317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.000998403	0.0045	0.0263	0	0	.	0	.	0	4.53e-05	7	154602	rs1459094829	0.0008	0.0007	0.0009	0.0006	0.0177	0.0007	0.0007	0.0159	0.0152	0.0177	0.0017	0	9.1e-05	0	0	0.0001	0.0014	0.0003	0.0040	0.0052	0.0042	0.0038	0.0153	0.0037	0.0036	0.0141	0.0136	0.0153	0	0.0015	0	0	0	0.0040	3.627e-05	0.0029	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	.	.	.	.	.	.	0.103	0.09349	-1.0421	0.16681	T	0.007	0.02282	T	7	0.004481137	0.00092	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.005002410895003491	0.00472	.	.	.	.	.	0.023846	0.18130	T	-0.277861	0.10896	T	-0.636905	0.09896	T	0.00746261219760872	0.00086	T	0.424958	0.30971	T	0.017859181	0.00310	0.052786004	0.08764	0.017859181	0.00310	0.052786004	0.08764	-8.584	0.64983	D	.	.	0.176	0.41141	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.530139	0.08986	5.770	0.89464374928784007	0.18819	0.00057	0.00426	N	AEFI	0.017836	0.00496	N	-1.4012398516331	0.02628	0.1163216	-1.68702360890539	0.01195	0.05382619	0.00290496246051793	0.09788	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	1.46	-2.92	0.05277	-1.479000	0.02432	-20.000000	0.00162	-1.667000	0.00805	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4993:0.3018:0.1989:0.0	4.904	0.13146	767	0.49651	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	574.33	27	chr1	146960159	.	G	A	574.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.62;DP=574;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.16;MQRankSum=0.619;QD=14.01;ReadPosRankSum=1.6;SOR=0.563	GT:AD:DP:GQ:PL	0/1:22,19:41:99:588,0,541	18	0	1	0
chr1	146987977	146987977	T	C	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon29:c.T3140C:p.V1047A	.	585	925	12	0	0	12	0.00644468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000292727078143	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201670582	0.0006	0.0047	0.0005	0.0007	0.0016	0.0005	0.0005	0.0012	0.0011	0.0007	0.0016	0.0008	0.0001	0.0017	0	0.0004	0.0007	0.0008	3.414e-05	0.0002	3.99e-05	2.806e-05	0.0002	1.298e-05	8.25e-06	8.44e-06	3.16e-06	5.094e-05	0	6.872e-05	0	0.0002	9.944e-05	0	0	0	0	.	.	.	1.0	0.33442	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.041	0.02759	-0.9272	0.44545	T	0.002	0.00707	T	5	0.03807187	0.02202	T	2.93E-4	0.00021	T	.	.	.	.	0.0297737177859	0.01360	0.005606807826563626	0.00530	.	.	.	.	.	0.012892	0.11252	T	-0.3762	0.03292	T	-0.778161	0.02510	T	0.102979525331736	0.12682	T	0.430157	0.21304	T	0.037774272	0.04907	0.100568555	0.24050	0.037774272	0.04906	0.100568555	0.24050	-9.292	0.69557	D	.	.	0.105	0.30502	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.755983	0.01197	0.059	0.15084805958000494	0.00356	0.00021	0.00226	N	AEFI	0.020281	0.00785	N	-1.83444603345663	0.00466	0.02006262	-2.06996451119044	0.00217	0.009541837	6.10642097802735E-4	0.07437	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.572	-1.14	0.09241	-1.771000	0.01887	-20.000000	0.00162	-0.536000	0.04945	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	778	0.48011	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;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1538	187.94	13	chr1	146987977	.	T	C	187.94	.	AC=4;AF=0.154;AN=26;BaseQRankSum=2.87;DP=400;ExcessHet=0.0101;FS=0;InbreedingCoeff=0.0907;MLEAC=4;MLEAF=0.154;MQ=34.78;MQRankSum=0.157;QD=4.95;ReadPosRankSum=-0.534;SOR=0.765	GT:AD:DP:GQ:PL	0/1:14,3:17:59:59,0,475	10	1	2	6
chr1	148590948	148590948	T	A	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon5:c.A587T:p.E196V	.	797	712	11	2	0	15	0.0104239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179002479	0.0023	0.0068	0.0024	0.0022	0.0059	0.0022	0.0021	0.0033	0.0026	0.0012	0.0007	0.0031	0	0.0043	0.0059	0.0028	0.0023	0.0002	0.0022	0.0079	0.0025	0.0019	0.0026	0.0020	0.0019	0.0023	0.0021	0.0023	0	0.0019	0.0016	0	0.0023	0	0.0026	0.0007	0.0006	.	.	.	0.013	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.36	0.16089	T	.	.	.	0.075	0.08366	.	.	.	.	.	.	.	0.07571003	0.11735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641836	0.25394	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.43448	B	.;.;.;.;.	.;.;.;.;.	0.639089	0.10078	6.824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.111000	0.03414	-5.349000	0.01752	0.216000	0.18031	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	81.06	.	chr1	148590948	.	T	A	81.06	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.684;DP=399;ExcessHet=0.3892;FS=38.371;InbreedingCoeff=-0.1232;MLEAC=3;MLEAF=0.088;MQ=27.97;MQRankSum=-1.119;QD=1.33;ReadPosRankSum=-0.09;SOR=4.798	GT:AD:DP:GQ:PL	0/1:23,5:28:60:60,0,654	14	0	3	2
chr1	149064443	149064443	G	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon14:c.C1841T:p.A614V,NBPF9:NM_001277444:exon14:c.C1841T:p.A614V	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000377717358613	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1342081158	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0007	0.0005	0	0.0002	0.0011	0	0	0.0017	0.0002	0.0006	0.0001	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.47e-05	0.0001	8.906e-05	0	0	0.0003	0.0009	0	0	0.0137	0.0002	0	0	.	.	.	0.163	0.34959	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.10340	-1.0442	0.16059	T	0.020	0.08546	T	5	0.074618876	0.11429	T	5.38E-4	0.00196	T	.	.	.	.	0.141422826196	0.13715	.	.	.	.	0.457975178957	0.33032	T	.	.	.	-0.0819939	0.39391	T	-0.355555	0.38568	T	0.0862100645899773	0.10762	T	0.962554	0.86020	D	0.043768667	0.06881	0.12613955	0.30383	0.043768667	0.06881	0.12613955	0.30382	-5.089	0.40871	T	.	.	0.175	0.44436	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.711044	0.10799	7.482	0.9571629405026485	0.27633	0.00473	0.02263	N	AEFI	0.043584	0.06908	N	-0.74928104195695	0.14653	0.731742	-0.992932384571843	0.09942	0.4977197	1.10942770519523E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	-0.579000	0.05927	-5.792000	0.01595	-0.418000	0.05239	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	889	0.27310	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;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1771.33	33	chr1	149064443	.	G	A	1771.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.144;DP=861;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.83;MQRankSum=0.215;QD=10.24;ReadPosRankSum=1.03;SOR=0.728	GT:AD:DP:GQ:PL	0/1:92,81:173:99:1785,0,2205	18	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	20288.3	149	chr1	149075685	.	C	A	20288.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=2.68;DP=7243;ExcessHet=8.9063;FS=9.436;InbreedingCoeff=-0.4084;MLEAC=11;MLEAF=0.289;MQ=47.06;MQRankSum=-6.736;QD=3.71;ReadPosRankSum=-1.169;SOR=1.49	GT:AD:DP:GQ:PL	0/1:376,66:442:99:777,0,10043	8	0	11	0
chr1	149080083	149080083	G	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon3:c.C248T:p.A83V,NBPF9:NM_001277444:exon3:c.C248T:p.A83V	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00153196257236	.	.	8.505e-06	0	0	0	0	1.546e-05	0	0	.	.	.	rs1358112198	0.0005	0.0005	0.0006	0.0004	0.0191	0.0005	0.0005	0.0178	0.0173	0.0191	0.0006	0	0	0	0.0002	3.813e-06	0.0010	1.177e-05	0.0058	0.0059	0.0061	0.0056	0.0206	0.0055	0.0054	0.0195	0.0190	0.0206	0	0.0018	0	0	0	0	0	0.0028	0	.	.	.	0.328	0.35205	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.18376	-0.8804	0.49730	T	0.004	0.01470	T	6	0.0055331886	0.00122	T	0.001532	0.02394	T	.	.	0.143	0.04650	0.251639045875	0.24756	.	.	.	.	0.512588560581	0.40584	T	.	.	.	-0.089532	0.38154	T	-0.366383	0.37311	T	0.0674584518706322	0.08290	T	0.772623	0.46223	T	0.0812143	0.18648	0.14192447	0.33782	0.0812143	0.18648	0.14192447	0.33781	-8.115	0.61852	D	.	.	0.254	0.56218	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.119204	0.15051	11.55	0.96539843720177188	0.30183	0.00265	0.01446	N	AEFBI	0.027162	0.02168	N	-0.921563084887521	0.10338	0.4935705	-1.09547364907663	0.07789	0.3802531	1.34553614013891E-6	0.01202	0.67177	0.52595	0	0.643519	0.57511	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	0.521	0.521	0.16244	0.216000	0.17370	0.717000	0.20982	0.377000	0.20376	0.004000	0.16614	0.002000	0.18203	0.024000	0.12247	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1237.33	203	chr1	149080083	.	G	A	1237.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.869;DP=3952;ExcessHet=0;FS=2.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.65;MQRankSum=2.93;QD=6.13;ReadPosRankSum=-1.203;SOR=0.899	GT:AD:DP:GQ:PL	0/1:140,62:202:99:1251,0,4512	18	0	1	0
chr1	149080125	149080125	A	C	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon3:c.T206G:p.F69C,NBPF9:NM_001277444:exon3:c.T206G:p.F69C	.	428	1033	59	0	2	61	0.0277647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	.	.	.	0.0033	0.0145	0.0009	0	0.0012	0.0027	0.0023	0.0042	.	.	.	rs1390912950	0.0002	0.0010	0.0002	0.0002	0.0007	0.0002	0.0002	0.0004	0.0004	0.0007	2.254e-05	0	0	0	0	0.0002	0.0001	1.217e-05	1.317e-05	4.599e-05	1.287e-05	1.348e-05	2.424e-05	2.19e-06	8.2e-07	.	.	2.424e-05	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.06	0.46406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.25377	-0.8915	0.48802	T	0.003	0.00929	T	6	0.006337911	0.00143	T	.	.	.	.	.	.	.	0.33085137897	0.32697	.	.	.	.	0.562167644501	0.47573	T	.	.	.	-0.00962353	0.50319	T	-0.2516	0.49658	T	0.00364377396181226	0.00039	T	0.776122	0.54441	T	0.07975494	0.18237	0.11654482	0.28135	0.07975494	0.18236	0.11654482	0.28134	-8.196	0.62519	D	.	.	0.208	0.66592	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.307220	0.17096	12.96	0.63452259433326419	0.07228	0.00133	0.00820	N	AEBI	0.030160	0.02983	N	-1.27017796842118	0.04039	0.1815783	-1.42974027466438	0.02958	0.1371134	1.34789044892587E-6	0.01202	0.660377	0.49826	0	0.694456	0.67091	0	0.602189	0.34648	0	0.508809	0.08732	0	.	.	0.521	0.521	0.16244	0.257000	0.18137	2.458000	0.32842	-0.610000	0.04588	0.000000	0.06391	0.053000	0.21875	0.001000	0.02609	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	546.33	203	chr1	149080125	.	A	C	546.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.708;DP=3909;ExcessHet=0;FS=1.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.5;MQRankSum=-4.053;QD=3.18;ReadPosRankSum=-2.387;SOR=0.539	GT:AD:DP:GQ:PL	0/1:134,38:172:99:560,0,3831	18	0	1	0
chr1	151760076	151760076	T	C	exonic	MRPL9	.	nonsynonymous SNV	MRPL9:NM_001300733:exon6:c.A676G:p.M226V,MRPL9:NM_031420:exon7:c.A778G:p.M260V	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0042	0.00579073	0.0017	0.0163	0.0004	0	0	0.0005	0.0022	0.0001	0.0016882	261	154602	rs141949185	0.0008	0.0008	0.0008	0.0007	0.0176	0.0008	0.0007	0.0164	0.0160	0.0176	0.0008	0.0013	2.519e-05	1.872e-05	0.0057	0.0003	0.0013	0.0002	0.0045	0.0045	0.0047	0.0044	0.0151	0.0043	0.0041	0.0141	0.0137	0.0151	0	0.0024	0.0006	0	0	0.0034	0.0002	0.0043	0	0.944	0.02327	T	0.757	0.04686	T	0.0	0.02946	B	0.0	0.01387	B	0.933127	0.08406	N	0.971697	1	0.08975	N	0.06	0.08197	N	1.59	0.30133	T	0.29	0.04456	N	0.055	0.21319	-0.9719	0.36798	T	0.011	0.04227	T	10	0.0037079453	0.00068	T	.	.	.	0.023	0.04649	.	.	0.0846915920261	0.08053	0.39853415049917384	0.39768	0.549432049578	0.51845	0.287247717381	0.08523	T	0.00433	0.03739	T	-0.657889	0.00065	T	-0.705464	0.05532	T	0.00341277397713941	0.00036	T	0.546745	0.18722	T	0.028189324	0.02119	0.034164958	0.02434	0.028189324	0.02119	0.034164958	0.02434	-1.612	0.02010	T	.	.	0.061	0.01161	B	.;.	.;.	-0.674758	0.01381	0.079	0.58552991104812757	0.06019	0.03022	0.07900	N	AEFBI	0.066942	0.13135	N	-1.28209970536581	0.03890	0.1746372	-1.35437523917978	0.03755	0.1757956	0.97026039831962	0.29194	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.74	-4.12	0.03650	-1.235000	0.03037	-4.513000	0.02118	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1373:0.1721:0.4189:0.2717	2.022	0.03297	291	0.88420	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.000000	0.016304	0.008772	0.100000	0.008621	0.000000	0.000000	0.02632	1323.33	34	chr1	151760076	.	T	C	1323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.029;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=0.108;SOR=0.76	GT:AD:DP:GQ:PL	0/1:22,48:70:99:1337,0,549	18	0	1	0
chr1	152110481	152110481	C	G	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G2736C:p.E912D	.	.	.	.	.	.	.	.	.	.	.	718222	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.007	0.0094612221149	0.0022	0.00279553	0.0008	0.0082	0.0006	0	0	4.497e-05	0	6.088e-05	0.000705	109	154602	rs143222885	0.0003	0.0003	0.0004	0.0003	0.0076	0.0003	0.0003	0.0068	0.0065	0.0076	0.0008	0	0	0	0.0009	0.0001	0.0005	2.327e-05	0.0023	0.0023	0.0025	0.0022	0.0082	0.0021	0.0021	0.0074	0.0072	0.0082	0	0.0005	0	0.0002	0	0	0.0001	0.0005	0	0.0	0.91255	D	0.563	0.09022	T	0.139	0.27501	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.42	0.05507	T	-0.29	0.11728	N	0.101	0.08506	-0.9080	0.47097	T	0.003	0.01092	T	9	0.0032268167	0.00055	T	0.009461	0.24786	T	0.007	0.00512	0.358	0.36060	0.314716216878	0.31082	0.029712328873895966	0.02920	0.241407247156	0.26664	0.282814204693	0.07888	T	0.001129	0.00635	T	-0.593821	0.00159	T	-0.619503	0.11224	T	0.0333703709589778	0.02533	T	0.191181	0.02047	T	0.117134504	0.27617	0.14779852	0.34961	0.117134504	0.27617	0.14779852	0.34961	-6.524	0.50472	T	.	.	0.302	0.53151	B	.;.	.;.	1.622089	0.20720	14.88	0.6886709916982241	0.08791	0.04000	0.09424	N	ALL	0.053280	0.09586	N	-1.07597103092534	0.07088	0.3282463	-1.1388658080374	0.06969	0.3373194	0.999999992807045	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.616487	0.41570	0	0.554799	0.18163	0	.	.	2.11	1.17	0.19998	0.323000	0.19340	.	.	0.483000	0.22176	0.000000	0.06391	0.001000	0.17328	0.014000	0.10232	0.0:0.8394:0.0:0.1606	6.742	0.22630	479	0.77495	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003021	0.000000	0.008152	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2051.33	44	chr1	152110481	.	C	G	2051.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=1377;ExcessHet=0;FS=1.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.531;SOR=0.889	GT:AD:DP:GQ:PL	0/1:90,79:169:99:2065,0,2232	18	0	1	0
chr1	152111858	152111860	CTC	-	exonic	TCHH	.	nonframeshift deletion	TCHH:NM_007113:exon3:c.1357_1359del:p.E453del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00279553	0.0008	0.0082	0.0006	0	0	4.507e-05	0	6.059e-05	0.0001153	3	26028	rs146085887	0.0003	0.0003	0.0003	0.0003	0.0071	0.0003	0.0003	0.0063	0.0061	0.0071	0.0008	0	0	0	0.0009	0.0001	0.0006	5.832e-05	0.0016	0.0016	0.0016	0.0015	0.0056	0.0014	0.0013	0.0049	0.0046	0.0056	0	0.0005	0	0	0	0	0.0001	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002523	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2026.29	44	chr1	152111857	.	TCTC	T	2026.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.014;DP=878;ExcessHet=0;FS=0.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.79;ReadPosRankSum=-0.1;SOR=0.593	GT:AD:DP:GQ:PL	0/1:41,52:93:99:2040,0,1528	18	0	1	0
chr1	152112091	152112091	-	CTGCTCGCGCCTCTCCTCCTC	exonic	TCHH	.	nonframeshift insertion	TCHH:NM_007113:exon3:c.1125_1126insGAGGAGGAGAGGCGCGAGCAG:p.Q375_Q376insEEERREQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0019	0.0006	0	0	0.0001	0	0.0003	3.84e-05	1	26028	rs775651068	0.0004	0.0004	0.0004	0.0004	0.0059	0.0003	0.0003	0.0052	0.0049	0.0059	0.0008	0.0023	0.0010	0	0.0007	0.0001	0.0008	0.0005	6.43e-05	7.653e-05	7.043e-05	5.761e-05	0.0002	2.968e-05	2.114e-05	7.459e-05	4.827e-05	0.0002	0	9.549e-05	0.0003	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	142.29	29	chr1	152112091	.	G	GCTGCTCGCGCCTCTCCTCCTC	142.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.843;DP=532;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.41;MQRankSum=-1.181;QD=10.95;ReadPosRankSum=1.29;SOR=0.582	GT:AD:DP:GQ:PL	0/1:8,5:13:99:156,0,324	18	0	1	0
chr1	152216539	152216539	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G5090A:p.R1697H	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0008	.	0.0015	0.0177	0.0007	0	0	0.0001	0	0.0001	0.0013066	202	154602	rs147155372	0.0003	0.0011	0.0003	0.0003	0.0087	0.0002	0.0002	0.0078	0.0075	0.0087	0.0005	0.0002	2.622e-05	0	0.0009	3.964e-05	0.0006	0.0001	0.0048	0.0096	0.0046	0.0051	0.0168	0.0045	0.0044	0.0157	0.0153	0.0168	0	0.0025	0.0003	0	0	0.0039	0.0001	0.0037	0.0003	0.088	0.32296	T	0.236	0.24694	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	4.74	0.01604	T	0.98	0.01447	N	0.055	0.02658	-0.9540	0.40274	T	0.002	0.00646	T	9	0.0040805936	0.00080	T	.	.	.	0.045	0.12272	.	.	0.184867976434	0.18130	0.03981449810652407	0.03927	.	.	0.443020343781	0.30990	T	0.014138	0.12091	T	-0.377501	0.03230	T	-0.78003	0.02452	T	0.00689922777791677	0.00078	T	0.230677	0.03117	T	0.018001338	0.00323	0.032038733	0.01879	0.018001338	0.00322	0.032038733	0.01879	-9.529	0.71039	D	.	.	0.094	0.14614	B	.	.	0.641780	0.10104	6.849	0.81979327576415273	0.13957	0.02032	0.06091	N	AEFI	0.024710	0.01573	N	-1.40839909054869	0.02564	0.1134066	-1.47200568872446	0.02577	0.1187333	1.57290069993394E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.88	-1.58	0.08029	-0.554000	0.06097	.	.	-4.950000	0.00017	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5788:0.0:0.4212	8.960	0.35006	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002648	0.000000	0.005435	0.004132	0.000000	0.000000	0.000000	0.000000	0.02632	1738.33	193	chr1	152216539	.	C	T	1738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.4;DP=5836;ExcessHet=0;FS=4.383;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=28.55;MQRankSum=0.268;QD=4.54;ReadPosRankSum=1.1;SOR=0.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:315,68:383:99:0|1:152216539_C_T:1752,0,12113:152216539	18	0	1	0
chr1	152216552	152216552	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G5077A:p.G1693R	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0008	.	0.0015	0.0170	0.0007	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs140441435	0.0003	0.0011	0.0003	0.0002	0.0083	0.0002	0.0002	0.0075	0.0072	0.0083	0.0005	0.0001	0	1.892e-05	0.0011	4.161e-05	0.0006	0.0001	0.0046	0.0091	0.0045	0.0047	0.0162	0.0043	0.0042	0.0151	0.0147	0.0162	0	0.0023	0.0003	0	0	0	7.679e-05	0.0039	0	0.014	0.53172	D	0.737	0.05036	T	0.02	0.18235	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	2.32	0.66415	M	4.59	0.01885	T	-1.71	0.40660	N	0.105	0.08925	-0.9381	0.42916	T	0.001	0.00467	T	9	0.0070360303	0.00160	T	.	.	.	0.011	0.01250	0.286	0.24440	0.318828661733	0.31499	0.013213045917889436	0.01279	.	.	0.51032936573	0.40269	T	0.017396	0.14198	T	-0.299816	0.08677	T	-0.668442	0.07708	T	0.0046805425629068	0.00050	T	0.452755	0.12846	T	0.08583757	0.19928	0.07435774	0.16259	0.08583757	0.19928	0.07435774	0.16259	-9.549	0.71163	D	.	.	0.293	0.52393	B	.	.	0.546363	0.09152	5.932	0.85331026945132604	0.15826	0.01332	0.04590	N	AEFI	0.031235	0.03297	N	-1.29279395537981	0.03761	0.1685979	-1.36864479814756	0.03591	0.1678097	1.78876457453815E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.13	-1.78	0.07527	-1.478000	0.02435	.	.	-1.106000	0.01499	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4305:0.1931:0.3764	3.692	0.07881	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001589	0.000000	0.004076	0.004132	0.000000	0.000000	0.000000	0.000000	0.02632	1629.33	193	chr1	152216552	.	C	T	1629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.29;DP=5760;ExcessHet=0;FS=4.909;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=28.93;MQRankSum=0.397;QD=4.92;ReadPosRankSum=1.82;SOR=0.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:272,59:331:99:0|1:152216539_C_T:1643,0,11133:152216539	18	0	1	0
chr1	152218889	152218889	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G2740A:p.G914S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0064	0.00638978	0.0017	0.0178	0.0010	0.0002	0	0.0001	0	6.056e-05	0.0016559	256	154602	rs150329486	0.0007	0.0007	0.0008	0.0006	0.0175	0.0006	0.0006	0.0163	0.0159	0.0175	0.0012	0	0.0002	0	0.0012	0.0002	0.0015	6.957e-05	0.0049	0.0049	0.0051	0.0047	0.0166	0.0046	0.0045	0.0156	0.0152	0.0166	0	0.0023	0	0.0006	0	0	0.0002	0.0038	0	0.573	0.06125	T	0.995	0.02336	T	0.906	0.49993	P	0.079	0.28749	B	.	.	.	.	1	0.08975	N	0.79	0.19579	N	4.47	0.02084	T	0.48	0.03041	N	0.073	0.04668	-0.9162	0.46063	T	0.001	0.00378	T	9	0.0038478076	0.00073	T	.	.	.	0.038	0.09825	.	.	0.247322355667	0.24350	0.002395140940065346	0.00222	.	.	0.547664523125	0.45528	T	0.013393	0.11594	T	-0.746782	0.00019	T	-0.830541	0.01253	T	0.00463312138219259	0.00050	T	0.286771	0.05140	T	0.019365957	0.00465	0.03967883	0.04115	0.019365957	0.00465	0.03967883	0.04114	-6.018	0.46431	T	.	.	0.095	0.14706	B	.	.	0.181383	0.05688	2.136	0.71513911445712808	0.09655	0.00438	0.02140	N	AEFBI	0.022896	0.01203	N	-1.1325469797088	0.06072	0.2785413	-1.30970758777482	0.04304	0.2027178	5.6834665638494E-5	0.04171	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.6	-3.63	0.04238	-2.207000	0.01314	.	.	-1.084000	0.01555	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5327:0.0:0.4673	9.434	0.37792	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003171	0.000000	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	6729.33	408	chr1	152218889	.	C	T	6729.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6;DP=4536;ExcessHet=0;FS=3.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=-0.067;QD=13.19;ReadPosRankSum=0.52;SOR=0.953	GT:AD:DP:GQ:PL	0/1:268,242:510:99:6743,0,6413	18	0	1	0
chr1	152303961	152303961	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T10925C:p.I3642T	Ichthyosis vulgaris, Autosomal dominant	1	1515	6	0	0	6	0.00197628	.	.	YES	1195849	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.027	.	0.0069	.	0.0035	0.0385	0.0013	0	0	0.0004	0.0011	0.0004	0.0005763	15	26028	rs150010190	0.0011	0.0014	0.0013	0.0010	0.0320	0.0011	0.0011	0.0304	0.0297	0.0320	0.0018	0.0008	5.038e-05	0	0.0033	0.0003	0.0021	0.0004	0.0058	0.0085	0.0060	0.0057	0.0206	0.0055	0.0054	0.0195	0.0190	0.0206	0	0.0017	0	0	0	0	0.0002	0.0024	0	1.0	0.00964	T	.	.	.	0.081	0.24602	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	-0.71	0.01811	N	3.86	0.03624	T	0.43	0.03297	N	0.038	0.01203	-0.9336	0.43605	T	0.002	0.00615	T	9	0.0039396286	0.00075	T	.	.	.	0.027	0.05988	.	.	0.0401082797425	0.02173	0.010551573171303709	0.01016	.	.	0.28362852335	0.08003	T	0.012736	0.11141	T	-0.784356	0.00010	T	-0.875764	0.00690	T	3.21378574881237e-05	0.00000	T	0.237776	0.03353	T	0.021012286	0.00683	0.053564195	0.09047	0.021012286	0.00683	0.053564195	0.09046	-5.241	0.39356	T	.	.	0.069	0.03060	B	.	.	-0.719614	0.01275	0.067	0.35760694279240979	0.02262	0.00017	0.00201	N	AEFBI	0.012907	0.00155	N	-1.46307970545098	0.02116	0.0930999	-1.42371780322069	0.03016	0.1399039	1.59035186883024E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.59	1.5	0.22029	-0.328000	0.07988	.	.	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0973:0.1616:0.7411:0.0	8.009	0.29503	557	0.71576	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005826	0.000000	0.012228	0.008197	0.000000	0.008621	0.000000	0.000000	0.02632	6972.33	752	chr1	152303961	.	A	G	6972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.901;DP=7954;ExcessHet=0;FS=0.55;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.36;MQRankSum=-4.776;QD=6.33;ReadPosRankSum=-0.194;SOR=0.628	GT:AD:DP:GQ:PL	0/1:722,380:1102:99:6986,0,20145	18	0	1	0
chr1	152308194	152308194	G	T	exonic	FLG	.	stopgain	FLG:NM_002016:exon3:c.C6692A:p.S2231X	Ichthyosis vulgaris, Autosomal dominant	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0960463	0.0738	0.0499	0.1290	0.1770	0.0452	0.0409	0.0874	0.1414	0.0185185	482	26028	rs536240526	4.279e-05	0.0025	4.326e-05	4.232e-05	0.0010	3.395e-05	3.077e-05	0.0007	0.0006	0.0010	4.667e-05	4.046e-05	0.0004	0	0	5.466e-06	0.0002	1.188e-05	0.0006	0.0029	0.0006	0.0006	0.0028	0.0005	0.0005	0.0022	0.0020	0.0028	0	0.0002	0	0	0	0	1.689e-05	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.284	0.32148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336259	0.85584	D	0.245237	0.85395	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.828627	0.93730	33	0.94689239606745224	0.25331	0.01165	0.04195	N	AEFBI	0.017660	0.00478	N	-0.263201740900834	0.30579	1.706429	-0.647889126147857	0.18270	0.9752533	1.8516116629361E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.46	1.53	0.22224	0.240000	0.17822	.	.	-1.591000	0.00906	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1685:0.0:0.8315:0.0	5.470	0.15957	563	0.71062	.	.	.	.	.	.	Benign	1	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	.	.	.	.	.	.	.	.	0.02632	381.33	457	chr1	152308194	.	G	T	381.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.23;DP=6000;ExcessHet=0;FS=5.464;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.36;MQRankSum=-12.38;QD=0.59;ReadPosRankSum=-6.051;SOR=1.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:594,52:646:99:0|1:152308193_T_C:395,0,24785:152308193	18	0	1	0
chr1	152308195	152308195	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T6691G:p.S2231A	Ichthyosis vulgaris, Autosomal dominant	0	1513	9	0	0	9	0.0029654	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	0.0960463	0.0740	0.0504	0.1302	0.1788	0.0451	0.0409	0.0876	0.1417	0.0185185	482	26028	rs556324776	6.34e-05	0.0031	7.006e-05	5.667e-05	0.0013	5.246e-05	4.855e-05	0.0010	0.0009	0.0013	2.351e-05	4.081e-05	0.0005	0	0	1.918e-05	0.0002	1.197e-05	0.0007	0.0029	0.0007	0.0007	0.0031	0.0006	0.0005	0.0025	0.0023	0.0031	0	0.0003	0	0	0.0001	0	1.714e-05	0.0007	0	0.361	0.11882	T	.	.	.	0.001	0.07471	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	-0.165	0.04321	N	3.75	0.03922	T	-0.76	0.21215	N	0.008	0.00068	-0.9703	0.37136	T	0.001	0.00408	T	9	0.0016847253	0.00021	T	.	.	.	0.020	0.03691	.	.	.	.	0.023400691961431297	0.02292	.	.	0.250265181065	0.03796	T	0.01042	0.09410	T	-0.421068	0.01684	T	-0.842611	0.01060	T	0.0111847063957195	0.00164	T	0.113289	0.00862	T	0.049661875	0.08852	0.0466271	0.06541	0.049661875	0.08852	0.0466271	0.06541	-1.481	0.01726	T	.	.	0.07	0.03479	B	.	.	-0.108554	0.03590	0.701	0.38466588929725054	0.02596	0.00127	0.00790	N	AEFBI	0.024979	0.01634	N	-2.80467277842901	0.00003	0.0001331835	-2.84999607398235	0.00003	0.0001554434	0.937587305439055	0.27304	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.67	-5.35	0.02488	-0.933000	0.04067	.	.	-0.700000	0.04059	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3562:0.4539:0.1899:0.0	6.785	0.22854	563	0.71062	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	468.33	457	chr1	152308195	.	A	C	468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.96;DP=6001;ExcessHet=0;FS=7.131;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.36;MQRankSum=-12.09;QD=0.72;ReadPosRankSum=-6.438;SOR=1.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:593,54:647:99:0|1:152308193_T_C:482,0,24737:152308193	18	0	1	0
chr1	152308209	152308209	C	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G6677T:p.G2226V	Ichthyosis vulgaris, Autosomal dominant	0	1511	11	0	0	11	0.00362677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	.	0.183307	0.0814	0.0632	0.1473	0.1924	0.0496	0.0461	0.0930	0.1461	0.0354234	922	26028	rs544807449	0.0005	0.0052	0.0005	0.0005	0.0130	0.0004	0.0004	0.0117	0.0113	0.0130	0.0008	0.0003	0.0046	0.0001	0.0013	5.441e-05	0.0017	0.0003	0.0018	0.0036	0.0016	0.0020	0.0088	0.0016	0.0015	0.0077	0.0072	0.0088	0	0.0005	0	0.0012	0.0004	0	5.587e-05	0.0015	0.0012	0.105	0.29823	T	.	.	.	0.868	0.47740	P	0.372	0.43610	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	3.29	0.06445	T	-2.19	0.49352	N	0.076	0.05037	-0.9736	0.36431	T	0.005	0.01578	T	9	0.0030772686	0.00051	T	.	.	.	0.165	0.42395	.	.	.	.	0.04323361185617763	0.04268	.	.	0.259808212519	0.04868	T	0.028284	0.20524	T	-0.29482	0.09157	T	-0.661265	0.08180	T	0.0260858363473376	0.01417	T	0.40156	0.10241	T	0.10558327	0.24963	0.10160429	0.24329	0.10558327	0.24963	0.10160429	0.24329	-6.387	0.49408	T	.	.	0.163	0.36053	B	.	.	0.777234	0.11474	8.076	0.62904335362991759	0.07083	0.02780	0.07486	N	AEFBI	0.039599	0.05774	N	-0.779306879523823	0.13850	0.6853526	-1.02305830469118	0.09279	0.460741	2.08373560863147E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.93	-1.95	0.07135	-0.009000	0.12703	.	.	0.291000	0.18778	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2337:0.3704:0.2307:0.1652	0.807	0.01016	563	0.71062	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07692	2464.2	642	chr1	152308209	.	C	A	2464.2	.	AC=2;AF=0.077;AN=26;BaseQRankSum=3.21;DP=7060;ExcessHet=0.119;FS=11.692;InbreedingCoeff=-0.1515;MLEAC=3;MLEAF=0.115;MQ=58.81;MQRankSum=-10.53;QD=1.9;ReadPosRankSum=-4.978;SOR=1.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:589,82:671:99:0|1:152308193_T_C:1670,0,24485:152308193	11	0	2	6
chr1	152308212	152308212	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T6674C:p.V2225A	Ichthyosis vulgaris, Autosomal dominant	0	1511	11	0	0	11	0.00362677	.	.	.	1245031	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.037	.	.	0.183307	0.0849	0.0676	0.1618	0.2071	0.0519	0.0475	0.0976	0.1499	0.0354234	922	26028	rs116918835	0.0009	0.0054	0.0009	0.0009	0.0197	0.0008	0.0008	0.0181	0.0175	0.0197	0.0013	0.0008	0.0076	0.0002	0.0014	0.0001	0.0026	0.0020	0.0022	0.0037	0.0020	0.0024	0.0108	0.0019	0.0018	0.0095	0.0090	0.0108	0	0.0006	0	0.0014	0.0004	0	7.611e-05	0.0008	0.0013	1.0	0.00964	T	.	.	.	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.18	0.09070	N	3.97	0.03326	T	0.73	0.02068	N	0.021	0.00339	-0.9292	0.44256	T	0.002	0.00526	T	8	0.0012171268	0.00013	T	.	.	.	0.037	0.09474	.	.	.	.	0.028666542745717876	0.02816	.	.	0.285316556692	0.08245	T	0.009382	0.08542	T	-0.378214	0.03197	T	-0.781055	0.02422	T	0.000276302609008336	0.00002	T	0.166283	0.01543	T	0.032984942	0.03429	0.09148293	0.21510	0.032984942	0.03429	0.09148293	0.21510	-4.226	0.27126	T	.	.	0.061	0.01075	B	.	.	-0.504175	0.01853	0.149	0.39177539384107868	0.02688	0.00100	0.00648	N	AEFBI	0.016280	0.00357	N	-1.58518500512031	0.01340	0.05839091	-1.65704622896125	0.01340	0.06047888	1.29783415351714E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.693	-0.944	0.09862	-1.778000	0.01875	.	.	-2.058000	0.00414	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	563	0.71062	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	1	0	0.005035	0.010101	0.001359	0.005848	0.000000	0.008621	0.009146	0.003788	0.07692	3121.2	646	chr1	152308212	.	A	G	3121.2	.	AC=2;AF=0.077;AN=26;BaseQRankSum=5.3;DP=7103;ExcessHet=0.119;FS=13.578;InbreedingCoeff=-0.1515;MLEAC=3;MLEAF=0.115;MQ=58.82;MQRankSum=-9.511;QD=2.38;ReadPosRankSum=-4.198;SOR=1.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:586,95:681:99:0|1:152308193_T_C:2162,0,24267:152308193	11	0	2	6
chr1	152308240	152308240	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T6646C:p.W2216R	Ichthyosis vulgaris, Autosomal dominant	0	1519	2	0	1	3	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	.	0.0011	0.0113	0.0002	0	0	0.0001	0	0.0002	3.84e-05	1	26028	rs750334731	6.16e-06	0.0003	5.449e-06	6.879e-06	0.0001	2.9e-06	2.1e-06	4.124e-05	2.401e-05	0.0001	2.238e-05	0	2.519e-05	0	0	1.799e-06	1.659e-05	0	0.0004	0.0055	0.0004	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0.0001	0	0	0	0	1.472e-05	0	0	0.884	0.02519	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.41	0.02942	N	4.74	0.01604	T	0.57	0.02638	N	0.041	0.01421	-0.9918	0.32141	T	0.001	0.00287	T	9	0.006183088	0.00139	T	.	.	.	0.015	0.02232	0.275	0.22687	0.134241683229	0.13084	0.017096601575852525	0.01664	.	.	0.21634504199	0.01109	T	0.012107	0.10698	T	-0.519008	0.00446	T	-0.814167	0.01574	T	0.0325369226154847	0.02394	T	0.142786	0.01162	T	0.030487433	0.02720	0.048043367	0.07052	0.030487433	0.02720	0.048043367	0.07051	3.097	0.00019	T	.	.	0.097	0.15877	B	.	.	0.174176	0.05627	2.079	0.58310186660061003	0.05964	0.00015	0.00188	N	AEFBI	0.012262	0.00129	N	-1.48502118576232	0.01955	0.08584978	-1.49893989338641	0.02353	0.1081092	1.49699493291343E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.46	1.46	0.21769	-1.509000	0.02368	.	.	-0.608000	0.04593	0.000000	0.06391	0.007000	0.19602	0.000000	0.00833	0.2291:0.0:0.7709:0.0	4.096	0.09465	563	0.71062	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	92.33	669	chr1	152308240	.	A	G	92.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=7229;ExcessHet=0;FS=8.097;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.34;MQRankSum=-11.89;QD=0.12;ReadPosRankSum=-6.075;SOR=1.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:718,54:772:99:0|1:152308217_T_C:106,0,29986:152308217	18	0	1	0
chr1	152308561	152308561	-	CGCAGACTGTCCATGGGTGGA	exonic	FLG	.	nonframeshift insertion	FLG:NM_002016:exon3:c.6324_6325insTCCACCCATGGACAGTCTGCG:p.A2108_P2109insSTHGQSA	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5771.29	711	chr1	152308561	.	G	GCGCAGACTGTCCATGGGTGGA	5771.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=8315;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=-2.623;QD=6.91;ReadPosRankSum=0.471;SOR=0.698	GT:AD:DP:GQ:PL	0/1:647,188:835:99:5785,0,25648	18	0	1	0
chr1	152309148	152309148	T	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A5738C:p.N1913T	Ichthyosis vulgaris, Autosomal dominant	0	1518	3	0	1	4	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.000758759005081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs541394374	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0025	0.0003	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	6.573e-05	0	0	0	0	1.473e-05	0	0	0.305	0.14256	T	.	.	.	0.911	0.50336	P	0.579	0.50152	P	.	.	.	.	1	0.08975	N	1.265	0.31966	L	4.7	0.01673	T	-0.16	0.09460	N	0.07	0.04307	-0.9710	0.36988	T	0.002	0.00707	T	9	0.06515136	0.08748	T	7.59E-4	0.00549	T	0.057	0.16321	0.315	0.29096	0.0716867268079	0.06686	0.0015192893771644796	0.00140	.	.	0.246517330408	0.03409	T	0.012997	0.11321	T	-0.42283	0.01641	T	-0.845143	0.01024	T	0.169582322693503	0.18552	T	0.324568	0.06628	T	0.080356464	0.18408	0.065636255	0.13332	0.080356464	0.18408	0.065636255	0.13331	-3.966	0.23293	T	.	.	0.188	0.40554	B	.	.	-1.053360	0.00698	0.020	0.25207745535954701	0.01151	0.00897	0.03520	N	AEFBI	0.036746	0.04945	N	-1.95268531002226	0.00267	0.01145097	-2.23221538702727	0.00095	0.004161579	0.999995353605371	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.45	-6.9	0.01496	-4.975000	0.00192	.	.	-3.412000	0.00088	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.096:0.452:0.2904:0.1617	5.405	0.15616	564	0.70960	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	595.33	686	chr1	152309148	.	T	G	595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.806;DP=7441;ExcessHet=0;FS=0.995;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.29;MQRankSum=-14.93;QD=0.85;ReadPosRankSum=-3.185;SOR=0.927	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:642,61:703:99:0|1:152309145_T_C:609,0,26617:152309145	18	0	1	0
chr1	152309149	152309149	T	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A5737C:p.N1913H	Ichthyosis vulgaris, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	1164847	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.028	.	.	0.0081869	0.0021	0.0224	0.0010	0	0	8.99e-05	0	0	0.0016136	42	26028	rs561463895	0.0006	0.0009	0.0007	0.0006	0.0201	0.0006	0.0006	0.0188	0.0183	0.0201	0.0011	0	2.519e-05	0	0.0037	6.927e-05	0.0014	0.0002	0.0061	0.0083	0.0063	0.0059	0.0215	0.0058	0.0057	0.0203	0.0198	0.0215	0	0.0024	0	0	0	0.0068	0.0001	0.0053	0.0002	0.314	0.13834	T	.	.	.	0.022	0.18677	B	0.026	0.20792	B	.	.	.	.	1	0.08975	N	0.02	0.07987	N	5.01	0.01308	T	0.47	0.03090	N	0.088	0.06587	-0.8877	0.49130	T	0.001	0.00408	T	9	0.0038010776	0.00071	T	.	.	.	0.028	0.06331	.	.	0.119812018005	0.11559	0.0028406063628844402	0.00264	.	.	0.239344403148	0.02732	T	0.01052	0.09491	T	-0.766611	0.00014	T	-0.860334	0.00839	T	0.00269116279263132	0.00028	T	0.275372	0.04709	T	0.042536438	0.06470	0.041122578	0.04604	0.042536438	0.06470	0.041122578	0.04604	0.936	0.00140	T	.	.	0.084	0.09772	B	.	.	-1.565117	0.00258	0.004	0.450417971896859	0.03506	0.00139	0.00851	N	AEFBI	0.019488	0.00682	N	-1.51631893579081	0.01742	0.07628056	-1.6477246330247	0.01388	0.06269787	0.00109989909081102	0.08217	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.45	-5.76	0.02183	-1.826000	0.01799	.	.	-1.789000	0.00640	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2638:0.1987:0.5375	7.455	0.26429	564	0.70960	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.010042	0.020202	0.020380	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	616.33	686	chr1	152309149	.	T	G	616.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.361;DP=7437;ExcessHet=0;FS=2.136;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.28;MQRankSum=-14.85;QD=0.89;ReadPosRankSum=-3.104;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:635,61:696:99:0|1:152309145_T_C:630,0,26370:152309145	18	0	1	0
chr1	152310159	152310159	A	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T4727A:p.V1576E	Ichthyosis vulgaris, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	2355224	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.045	0.000893171561919	.	.	0.0002	0	0.0002	0	0	0.0003	0	0.0003	0.0001811	28	154602	rs142456327	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	2.987e-05	0.0001	0	2.519e-05	0	0.0023	0.0002	0.0005	0.0003	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	2.419e-05	0	0.0004	0.0003	0	0	0.0034	0.0004	0.0024	0	0.108	0.29420	T	.	.	.	0.777	0.44168	P	0.286	0.40541	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	4.72	0.01636	T	0.8	0.01866	N	0.12	0.11054	-0.9828	0.34351	T	0.002	0.00497	T	9	0.049469203	0.04540	T	8.93E-4	0.00822	T	0.045	0.12272	.	.	0.204665344411	0.20097	0.04666313650788544	0.04609	.	.	0.304457694292	0.11069	T	0.009163	0.08356	T	-0.565103	0.00237	T	-0.717443	0.04921	T	0.0312091747720231	0.02180	T	0.219778	0.02813	T	0.07619965	0.17217	0.083064616	0.19007	0.07619965	0.17216	0.083064616	0.19007	-7.14	0.55049	T	.	.	0.101	0.17615	B	.	.	-0.133389	0.03447	0.635	0.89143940260875654	0.18548	0.00493	0.02333	N	AEFBI	0.033580	0.04012	N	-1.07082361215629	0.07185	0.3330247	-1.25284168519111	0.05089	0.2416568	1.23693729481022E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.63	0.641	0.16930	-0.654000	0.05453	.	.	-1.772000	0.00663	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2334:0.0:0.7666:0.0	4.356	0.10612	582	0.69555	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	6503.33	376	chr1	152310159	.	A	T	6503.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.18;DP=4904;ExcessHet=0;FS=0.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=2.24;SOR=0.744	GT:AD:DP:GQ:PL	0/1:266,245:511:99:6517,0,6983	18	0	1	0
chr1	152312297	152312297	C	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G2589C:p.R863S	Ichthyosis vulgaris, Autosomal dominant	0	1506	15	0	1	16	0.0049554	.	.	.	1195869	FLG-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	0.00455718386317	0.0027	0.00299521	0.0013	0.0084	0.0009	0	0	0.0002	0	0.0031	0.0011578	179	154602	rs149855516	0.0005	0.0005	0.0005	0.0006	0.0079	0.0005	0.0005	0.0072	0.0069	0.0079	0.0010	0	7.557e-05	7.488e-05	0.0017	0.0001	0.0008	0.0032	0.0026	0.0026	0.0026	0.0025	0.0079	0.0023	0.0023	0.0072	0.0069	0.0079	0	0.0022	0	0.0002	9.497e-05	0	0.0002	0	0.0023	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.035	0.05024	N	5.58	0.00843	T	2.34	0.00278	N	0.054	0.02559	-0.9111	0.46719	T	0.000	0.00152	T	9	0.004664898	0.00098	T	0.004557	0.11252	T	0.014	0.01968	.	.	0.0716867268079	0.06686	0.06347440224965822	0.06286	.	.	0.234674930573	0.02331	T	0.01273	0.11134	T	-0.722244	0.00027	T	-0.803691	0.01812	T	0.000580257885496856	0.00005	T	0.316468	0.06291	T	0.07270883	0.16195	0.05372356	0.09104	0.07270883	0.16195	0.05372356	0.09103	-7.778	0.59547	D	.	.	0.089	0.12181	B	.	.	-1.168666	0.00563	0.014	0.44239524625645671	0.03387	0.00025	0.00253	N	AEFBI	0.018053	0.00518	N	-1.96052580780369	0.00257	0.01101426	-2.04367172998558	0.00247	0.01089423	0.0874755642667334	0.16035	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.78	-7.55	0.01185	-1.981000	0.01580	.	.	-0.614000	0.04577	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1634:0.4421:0.1716:0.2229	2.908	0.05374	592	0.68746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	5573.33	476	chr1	152312297	.	C	G	5573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=5851;ExcessHet=0;FS=0.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.65;MQRankSum=-10.1;QD=10.97;ReadPosRankSum=0.25;SOR=0.756	GT:AD:DP:GQ:PL	0/1:296,212:508:99:5587,0,8299	18	0	1	0
chr1	152910295	152910354	AGAGCAGCAGGAGGGACAGCTGAAGCACCCGGAGCAGCAGGAGGGGCAGCTGGAGCTCCC	-	exonic	IVL	.	nonframeshift deletion	IVL:NM_005547:exon2:c.498_557del:p.K174_L193del	.	406	1113	2	0	1	3	0.000897666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0018	0.0015	0.0017	0.0033	0.0016	0.0015	0.0022	0.0018	0.0004	0.0012	0.0034	2.528e-05	0.0014	0.0033	0.0016	0.0024	0.0017	0.0033	0.0036	0.0033	0.0033	0.0054	0.0030	0.0029	0.0044	0.0040	0.0010	0	0.0054	0.0042	0	0.0010	0.0041	0.0046	0.0047	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1373.79	36	chr1	152910294	.	TAGAGCAGCAGGAGGGACAGCTGAAGCACCCGGAGCAGCAGGAGGGGCAGCTGGAGCTCCC	T	1373.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.923;DP=784;ExcessHet=0.119;FS=7.308;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.3;MQRankSum=0.016;QD=10.18;ReadPosRankSum=0.6;SOR=1.324	GT:AD:DP:GQ:PL	0/1:55,19:74:99:624,0,2190	17	0	2	0
chr1	154070344	154070344	G	A	exonic	NUP210L	.	nonsynonymous SNV	NUP210L:NM_001159484:exon17:c.C2483T:p.A828V,NUP210L:NM_207308:exon17:c.C2483T:p.A828V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	0.0307215721532	.	.	8.287e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs756386749	2.464e-05	2.463e-05	2.043e-05	2.889e-05	3.238e-05	1.804e-05	1.601e-05	2.37e-05	2.104e-05	0	0	0	0	0	0	3.238e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.0	0.92824	D	0.952	0.54136	P	0.536	0.48739	P	0.001494	0.38855	N	0.113620	0.72254	0.29908	N	2.755	0.80505	M	-1.41	0.80560	T	-3.35	0.66436	D	0.431	0.50508	-0.1962	0.77769	T	0.440	0.77878	T	10	0.6386477	0.68928	D	0.030722	0.52967	D	0.633	0.85924	0.635	0.77142	0.924462296912	0.92369	0.6742257986394383	0.67360	0.497859118466	0.48274	0.619470953941	0.55654	T	0.587448	0.86584	D	0.0984714	0.64126	D	-0.0808431	0.64843	T	0.944476723670959	0.62068	D	0.774123	0.40598	T	0.28134534	0.51177	0.27739632	0.53692	0.28134534	0.51177	0.27739632	0.53691	-8.766	0.66178	D	.	.	0.209	0.43599	B	.;.	.;.	4.048973	0.59999	24.2	0.99917136361437264	0.98518	0.95872	0.66516	D	AEFI	0.510885	0.53974	D	0.564672343590272	0.70979	5.581856	0.575947385113588	0.73218	5.934891	0.0758923074455153	0.15710	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.12	5.12	0.69459	4.872000	0.62744	9.614000	0.81092	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	15.647	0.76818	86	0.96395	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1327.33	37	chr1	154070344	.	G	A	1327.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.992;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.744;SOR=0.65	GT:AD:DP:GQ:PL	0/1:42,59:101:99:1341,0,913	18	0	1	0
chr1	155014887	155014887	G	T	exonic	ZBTB7B	.	nonsynonymous SNV	ZBTB7B:NM_001256455:exon2:c.G227T:p.G76V,ZBTB7B:NM_001377453:exon3:c.G227T:p.G76V,ZBTB7B:NM_001377455:exon3:c.G227T:p.G76V,ZBTB7B:NM_001252406:exon4:c.G329T:p.G110V,ZBTB7B:NM_001377452:exon4:c.G227T:p.G76V,ZBTB7B:NM_001377454:exon4:c.G227T:p.G76V,ZBTB7B:NM_001377451:exon5:c.G329T:p.G110V	.	359	1160	3	0	0	3	0.00129143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	.	0.0011	0.00139776	0.0008	0.0003	0.0010	0.0001	0	0.0013	0.0022	6.058e-05	0.0008797	136	154602	rs145349387	0.0012	0.0012	0.0012	0.0013	0.0029	0.0012	0.0012	0.0019	0.0015	0.0002	0.0015	0.0002	2.519e-05	1.875e-05	0.0029	0.0015	0.0014	0.0001	0.0013	0.0013	0.0014	0.0012	0.0053	0.0011	0.0011	0.0044	0.0040	0.0005	0	0.0053	0	0	0	0	0.0014	0.0024	0	0.102	0.63226	T	0.512	0.24987	T	0.998	0.73220	D	0.966	0.71341	D	0.777684	0.09496	N	0.847359	1	0.81001	D	1.285	0.32305	L	2.96	0.10008	T	-0.12	0.08809	N	0.21	0.34228	-1.0147	0.25432	T	0.025	0.10866	T	10	0.0059859753	0.00134	T	.	.	.	0.168	0.42943	.	.	0.34333109794	0.33943	0.3902978738101172	0.38944	0.92107368412	0.71454	0.664211511612	0.62011	T	0.211599	0.57241	T	-0.421074	0.01683	T	-0.412999	0.31879	T	0.0325374368548874	0.02394	T	0.676632	0.28519	T	0.053472083	0.10124	0.06315496	0.12468	0.053472083	0.10124	0.06315496	0.12468	-5.674	0.43461	T	.	.	0.214	0.45261	B	.;.;.;.	.;.;.;.	1.596427	0.20413	14.74	0.95361469939205612	0.26761	0.93361	0.58011	D	AEFDGBCI	0.563347	0.57057	D	0.141003104650281	0.48385	3.051558	0.0716841575549032	0.43131	2.621314	0.99999999794091	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.66	3.66	0.41111	2.716000	0.46888	6.244000	0.55301	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.001000	0.02609	0.0:0.0:1.0:0.0	10.717	0.45215	331	0.86429	BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;.;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ 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	0.002016	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1535.33	33	chr1	155014887	.	G	T	1535.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=738;ExcessHet=0;FS=10.5;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=1.77;SOR=0.982	GT:AD:DP:GQ:PL	0/1:37,55:92:99:1549,0,880	18	0	1	0
chr1	155190203	155190203	G	C	splicing	MUC1	NM_001371720:exon6:c.1419-1C>G	.	.	Medullary cystic kidney disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs769934858	0.0005	0.0005	0.0004	0.0005	0.0035	0.0004	0.0004	0.0023	0.0019	0.0010	0.0032	0.0024	0.0035	0.0058	0	0.0004	0.0010	8.834e-05	0.0097	0.0069	0.0083	0.0115	0.0165	0.0085	0.0080	0.0089	0.0075	0.0112	0	0.0133	0.0115	0.0050	0.0085	0	0.0087	0.0090	0.0165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	209.64	17	chr1	155190203	.	G	C	209.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=436;ExcessHet=0;FS=0;InbreedingCoeff=-0.0839;MLEAC=2;MLEAF=0.143;MQ=46.19;MQRankSum=-1.45;QD=14.97;ReadPosRankSum=-2.067;SOR=1.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,10:14:99:0|1:155190174_C_G:215,0,104:155190174	6	0	1	12
chr1	156548629	156548629	C	T	exonic	IQGAP3	.	nonsynonymous SNV	IQGAP3:NM_178229:exon17:c.G1945A:p.G649S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0071	0.00579073	0.0021	0.0216	0.0012	0	0	4.548e-05	0.0023	6.815e-05	0.0019534	302	154602	rs77834544	0.0008	0.0008	0.0010	0.0007	0.0272	0.0008	0.0008	0.0257	0.0251	0.0272	0.0014	0	2.522e-05	0	0.0030	9.19e-05	0.0018	6.986e-05	0.0065	0.0065	0.0068	0.0062	0.0221	0.0062	0.0060	0.0209	0.0204	0.0221	0	0.0037	0	0	0	0	8.822e-05	0.0052	0	0.862	0.02658	T	0.817	0.03863	T	0.004	0.12183	B	0.003	0.08700	B	0.078609	0.21033	N	0.503962	0.999997	0.08975	N	-0.145	0.04423	N	3.39	0.05710	T	1.64	0.00621	N	0.049	0.02088	-0.9799	0.35025	T	0.002	0.00646	T	10	0.0030549169	0.00050	T	.	.	.	0.018	0.03083	.	.	0.227934060464	0.22382	0.18616659376740055	0.18534	0.140115118664	0.15791	0.306780874729	0.11421	T	0.052295	0.29122	T	-0.684639	0.00045	T	-0.738628	0.03949	T	0.000577411116473616	0.00005	T	0.39926	0.10144	T	0.015485652	0.00141	0.033855	0.02351	0.015485652	0.00141	0.033855	0.02350	-2.38	0.05012	T	.	.	0.067	0.02428	B	.	.	0.343849	0.07174	3.759	0.48293710096643899	0.04018	0.04277	0.09815	N	AEFBI	0.052088	0.09265	N	-1.52795762898217	0.01668	0.07296359	-1.51456104778203	0.02232	0.102331	0.853021634947868	0.25080	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.7	-2.13	0.06745	-0.367000	0.07607	-1.154000	0.06172	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4748:0.0:0.5252	9.446	0.37859	634	0.64659	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.005051	0.021739	0.000000	0.000000	0.017241	0.000000	0.000000	0.02632	1870.33	33	chr1	156548629	.	C	T	1870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=832;ExcessHet=0;FS=4.064;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.441;SOR=0.416	GT:AD:DP:GQ:PL	0/1:72,70:142:99:1884,0,1705	18	0	1	0
chr1	156669969	156669969	C	T	exonic	NES	.	nonsynonymous SNV	NES:NM_006617:exon4:c.G4219A:p.G1407R	.	359	1161	2	0	0	2	0.000860585	.	.	.	706737	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.108	.	0.0103	0.0121805	0.0032	0.0373	0.0020	0	0	9.223e-05	0.0011	0	0.00315	487	154602	rs74118731	0.0010	0.0010	0.0012	0.0009	0.0349	0.0010	0.0010	0.0332	0.0325	0.0349	0.0027	0	0	0	0.0023	4.407e-05	0.0025	9.275e-05	0.0099	0.0100	0.0100	0.0099	0.0350	0.0095	0.0093	0.0335	0.0329	0.0350	0	0.0028	0	0	0	0.0068	4.412e-05	0.0047	0.0002	0.169	0.22920	T	0.286	0.21277	T	0.02	0.18235	B	0.012	0.16012	B	0.286346	0.14850	N	0.501280	1	0.08975	N	1.445	0.36358	L	-2.16	0.86549	D	-3.13	0.63901	D	0.164	0.17278	-0.7006	0.60409	T	0.289	0.66084	T	10	0.002946794	0.00048	T	.	.	.	0.108	0.30607	0.152	0.05544	0.739281067999	0.73695	0.009036318707236979	0.00866	0.0991782034747	0.11207	0.50548350811	0.39592	T	0.499603	0.82055	T	-0.471071	0.00837	T	-0.422978	0.30734	T	0.00920745799562415	0.00116	T	0.707729	0.31835	T	0.09719495	0.22908	0.109687194	0.26439	0.09719495	0.22907	0.109687194	0.26439	-3.826	0.21193	T	.	.	0.156	0.34580	B	.	.	1.462631	0.18854	13.96	0.95641119360894977	0.27438	0.09022	0.14859	N	AEFDGBHCI	0.099968	0.20111	N	-0.636599507514574	0.17852	0.9221919	-0.618312747459468	0.19022	1.018827	0.999998134882196	0.74766	0.645754	0.44609	0	0.610034	0.51514	0	0.696144	0.63334	0	0.645665	0.59343	0	.	.	4.99	0.957	0.18736	0.248000	0.17971	0.490000	0.18893	0.587000	0.30956	0.000000	0.06391	0.023000	0.20922	0.939000	0.47918	0.0:0.5599:0.0:0.4401	7.966	0.29261	744	0.52588	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.005051	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2290.33	39	chr1	156669969	.	C	T	2290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.172;DP=1464;ExcessHet=0;FS=4.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.4;SOR=0.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,87:164:99:1|0:156669961_G_A:2304,0,2921:156669961	18	0	1	0
chr1	157542901	157542901	G	A	exonic	FCRL5	.	nonsynonymous SNV	FCRL5:NM_001195388:exon6:c.C1081T:p.L361F,FCRL5:NM_031281:exon6:c.C1081T:p.L361F	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.0063	0.00599042	0.0020	0.0201	0.0013	0	0	0.0002	0.0011	0	0.0018887	292	154602	rs115306426	0.0007	0.0007	0.0008	0.0007	0.0218	0.0007	0.0007	0.0205	0.0200	0.0218	0.0010	0	0	0	0.0022	0.0001	0.0016	4.639e-05	0.0057	0.0057	0.0059	0.0055	0.0198	0.0054	0.0053	0.0187	0.0183	0.0198	0	0.0017	0	0	0	0	0.0001	0.0033	0.0002	0.357	0.12032	T	0.678	0.06147	T	0.986	0.61523	D	0.857	0.61067	P	.	.	.	.	1	0.08975	N	0.12	0.08593	N	2.69	0.12268	T	-0.6	0.24026	N	0.037	0.01825	-1.0497	0.14481	T	0.013	0.05033	T	9	0.003721863	0.00069	T	.	.	.	0.077	0.22490	.	.	0.0920862733494	0.08535	0.13742606916865616	0.13666	0.189962663849	0.21315	0.209943383932	0.00809	T	0.002687	0.02075	T	-0.737355	0.00021	T	-0.815679	0.01542	T	0.00815976016068257	0.00097	T	0.343166	0.07474	T	0.04029657	0.05725	0.05133183	0.08240	0.04029657	0.05725	0.05133183	0.08239	-4.15	0.26024	T	.	.	0.090	0.12418	B	.;.;.	.;.;.	0.315224	0.06903	3.439	0.18004824544295156	0.00548	0.00757	0.03139	N	AEFDBIJ	0.036168	0.04774	N	-1.37128749203953	0.02911	0.1292262	-1.53324939402326	0.02093	0.09576224	0.451523470226899	0.20545	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.478617	0.07155	0	.	.	3.05	-4.64	0.03109	-0.774000	0.04790	-8.312000	0.00991	-1.217000	0.01344	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.3557:0.1506:0.2242:0.2695	0.220	0.00155	851	0.35303	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	4648.83	33	chr1	157542901	.	G	A	4648.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.92;DP=915;ExcessHet=0.119;FS=8.408;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=1.01;SOR=0.918	GT:AD:DP:GQ:PL	0/1:78,78:156:99:2169,0,1951	17	0	2	0
chr1	157544364	157544364	T	C	exonic	FCRL5	.	nonsynonymous SNV	FCRL5:NM_001195388:exon5:c.A742G:p.T248A,FCRL5:NM_031281:exon5:c.A742G:p.T248A	.	436	1077	9	0	0	9	0.00416089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00233255892326	0.0002	0.000199681	0.0014	0.0002	0.0059	0	0	0.0005	0.0066	0.0036	0.001119	173	154602	rs150471028	0.0005	0.0005	0.0004	0.0007	0.0037	0.0005	0.0005	0.0034	0.0033	0	0.0023	3.826e-05	0	0.0001	0.0017	0.0003	0.0007	0.0037	0.0003	0.0003	0.0003	0.0004	0.0023	0.0003	0.0002	0.0013	0.0010	0	0	0.0003	0	0	0	0	0.0005	0	0.0023	0.312	0.32141	T	0.246	0.23984	T	0.006	0.13644	B	0.007	0.12992	B	0.005592	0.01086	N	3.156860	1	0.08975	N	-0.02	0.05091	N	2.69	0.12268	T	-0.52	0.16187	N	0.039	0.01577	-0.9764	0.35816	T	0.003	0.00897	T	10	0.0052937865	0.00116	T	0.002333	0.04507	T	0.003	0.00094	.	.	0.0138822411134	0.00435	0.12379366770929005	0.12305	0.0670969358633	0.07497	0.2436953336	0.03133	T	0.002525	0.01914	T	-0.702593	0.00035	T	-0.784108	0.02331	T	0.0185076876855515	0.00566	T	0.157784	0.02071	T	0.013218225	0.00053	0.012743719	0.00000	0.013218225	0.00053	0.012743719	0.00000	-4.475	0.30705	T	.	.	0.067	0.08802	B	.;.;.	.;.;.	-1.381155	0.00374	0.007	0.35035392882797511	0.02176	0.00710	0.03005	N	AEFBI	0.055559	0.10200	N	-2.12225312794012	0.00114	0.004894654	-2.18613977114946	0.00120	0.005281627	0.998474159038588	0.37033	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.3	-8.6	0.00773	-2.409000	0.01119	-3.779000	0.02542	-1.084000	0.01555	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2864:0.0881:0.2148:0.4107	1.389	0.02112	840	0.37365	Immunoglobulin-like domain|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1522.33	40	chr1	157544364	.	T	C	1522.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=853;ExcessHet=0;FS=1.402;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.309;SOR=0.873	GT:AD:DP:GQ:PL	0/1:69,60:129:99:1536,0,1720	18	0	1	0
chr1	158613859	158613859	T	C	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon50:c.A6851G:p.D2284G	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277622	not_provided|Elliptocytosis_2|Hereditary_spherocytosis_type_3|Pyropoikilocytosis,_hereditary|not_specified	MedGen:C3661900|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.492	0.385842843384	0.0003	.	7.745e-05	0.0010	0	0	0	0	0	0	6.47e-05	10	154602	rs374589766	4.31e-05	4.309e-05	2.587e-05	6.052e-05	0.0009	3.443e-05	3.129e-05	0.0006	0.0006	0.0009	4.478e-05	0	0	0	0.0005	1.439e-05	0.0002	1.159e-05	0.0002	0.0002	0.0003	9.445e-05	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	6.557e-05	0	0	0	0	0	0	0	.	.	.	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.005054	0.33144	N	0.000000	0.999999	0.58761	D	3.42	0.91902	M	.	.	.	.	.	.	0.939	0.94550	0.087	0.83935	D	0.412	0.76020	T	10	0.7668917	0.76774	D	0.385843	0.93077	D	0.492	0.77847	.	.	0.844359360947	0.84286	0.7411199894194388	0.74057	0.243925274946	0.26902	0.524457931519	0.42254	T	0.747578	0.93057	D	0.184573	0.72464	D	0.415645	0.92608	D	0.700497925281525	0.40742	D	0.794021	0.43594	T	0.7661204	0.81815	0.6856532	0.81516	0.7661204	0.81817	0.6856532	0.81517	-10.954	0.79405	D	0.7825151592355348	0.86219	0.606	0.69107	P	.;.	.;.	4.538572	0.71321	25.7	0.9987837202722909	0.95491	0.97949	0.78358	D	AEFBI	0.879862	0.80610	D	0.937989833712136	0.93494	12.07583	0.84643597533778	0.92805	11.64312	0.998952597380973	0.38059	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	7.441000	0.79617	7.875000	0.72177	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.081	0.64447	547	0.72440	EF-hand domain;EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	603.33	40	chr1	158613859	.	T	C	603.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.3;DP=707;ExcessHet=0;FS=9.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=-1.115;SOR=2.012	GT:AD:DP:GQ:PL	0/1:52,23:75:99:617,0,1447	18	0	1	0
chr1	159880699	159880699	T	A	exonic	CFAP45	.	nonsynonymous SNV	CFAP45:NM_012337:exon8:c.A899T:p.D300V	.	.	.	.	.	.	.	.	0.0032	0.028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0190989500511	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345696453	6.843e-07	6.84e-07	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.26085	T	0.157	0.32675	T	0.984	0.60733	D	0.761	0.56482	P	0.044332	0.23649	N	0.483083	0.999961	0.52935	D	.	.	.	2.92	0.09915	T	-2.7	0.62863	D	0.394	0.43514	-1.0725	0.08873	T	0.025	0.10688	T	9	0.21636719	0.38217	T	0.019099	0.41369	T	0.103	0.29403	0.171	0.07655	0.404733080969	0.40085	0.5878401683062782	0.58714	0.489260562259	0.47694	0.348666071892	0.17725	T	0.028743	0.20752	T	-0.163247	0.26262	T	-0.472269	0.25272	T	0.65327787399292	0.38603	D	0.865113	0.56980	D	0.23655437	0.46507	0.20784019	0.45060	0.23655437	0.46507	0.20784019	0.45059	-9.145	0.73190	D	.	.	0.147	0.32348	B	.;.	.;.	3.213700	0.43755	21.8	0.86366289048173683	0.16487	0.79465	0.39382	D	AEFDBHCIJ	0.308617	0.41515	N	0.233403985978254	0.52824	3.454219	0.202970213260836	0.50013	3.197762	0.999999992747482	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.94	4.94	0.64645	2.494000	0.44988	6.067000	0.53222	0.603000	0.45986	1.000000	0.71638	1.000000	0.68203	0.715000	0.34611	0.0:0.0:0.0:1.0	12.550	0.55569	827	0.39843	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	666.33	33	chr1	159880699	.	T	A	666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.807;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-1.135;SOR=0.538	GT:AD:DP:GQ:PL	0/1:26,26:52:99:680,0,752	18	0	1	0
chr1	160523176	160523176	T	C	exonic	SLAMF6	.	nonsynonymous SNV	SLAMF6:NM_001184714:exon1:c.A17G:p.Q6R,SLAMF6:NM_001184715:exon1:c.A17G:p.Q6R,SLAMF6:NM_001184716:exon1:c.A17G:p.Q6R,SLAMF6:NM_052931:exon1:c.A17G:p.Q6R	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00201945090868	0.0004	0.000798722	0.0007	9.649e-05	0.0046	0	0	0.0004	0.0011	0.0005	0.0006015	93	154602	rs140530109	0.0002	0.0002	0.0002	0.0002	0.0050	0.0002	0.0002	0.0036	0.0031	2.989e-05	0.0022	0.0010	0	0	0.0050	8.095e-05	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0	0	0.0008	0.0023	0	0	0.0068	0.0001	0.0024	0.0006	0.596	0.05703	T	0.407	0.14865	T	0.022	0.18677	B	0.006	0.12133	B	0.030752	0.01725	N	3.119770	1	0.08975	N	1.79	0.46772	L	2.93	0.26301	T	-1.21	0.30762	N	0.251	0.31478	-1.0107	0.26698	T	0.013	0.05321	T	10	0.005907595	0.00132	T	0.002019	0.03668	T	0.081	0.23632	.	.	0.136095386433	0.13204	0.40826864688266606	0.40742	0.71948820848	0.62137	0.290410459042	0.08982	T	0.171979	0.52030	T	-0.636821	0.00087	T	-0.69479	0.06115	T	0.0105587195199704	0.00147	T	0.39616	0.10162	T	0.032664165	0.03334	0.031163974	0.01668	0.032664165	0.03333	0.031163974	0.01668	-3.902	0.22768	T	.	.	0.116	0.34227	B	.;.;.	.;.;.	-1.044432	0.00710	0.021	0.3411424737014716	0.02069	0.03760	0.09070	N	ALL	0.038088	0.05339	N	-1.81648961690406	0.00506	0.02177831	-1.95695474069501	0.00376	0.01662464	0.999999999999986	0.74766	0.487112	0.14033	0	0.504199	0.08210	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.14	-6.27	0.01850	-1.032000	0.03685	-4.687000	0.02033	-0.797000	0.03199	0.001000	0.13787	0.000000	0.08366	0.026000	0.12556	0.3932:0.103:0.334:0.1699	1.615	0.02538	817	0.41665	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	1426.33	34	chr1	160523176	.	T	C	1426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.755;DP=751;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-0.667;SOR=0.695	GT:AD:DP:GQ:PL	0/1:62,68:130:99:1440,0,1433	18	0	1	0
chr1	161525116	161525116	A	G	exonic	HSPA6	.	nonsynonymous SNV	HSPA6:NM_002155:exon1:c.A458G:p.N153S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	0.0022	0.0125799	0.0027	0.0308	0.0014	0	0	0.0002	0	0	0.0027663	72	26028	rs10919225	0.0008	0.0009	0.0010	0.0007	0.0270	0.0008	0.0008	0.0256	0.0250	0.0270	0.0023	0	2.519e-05	0	0.0023	4.677e-05	0.0020	2.319e-05	0.0095	0.0097	0.0093	0.0096	0.0321	0.0091	0.0089	0.0306	0.0301	0.0321	0	0.0054	0	0	0	0.0034	0.0001	0.0076	0.0002	0.001	0.78490	D	0.014	0.62352	D	0.895	0.49247	P	0.338	0.42306	B	0.006388	0.32067	N	0.138660	0.885888	0.35847	D	2.47	0.71715	M	3.73	0.03982	T	-4.02	0.74269	D	0.378	0.41952	-1.0741	0.08535	T	0.012	0.04747	T	10	0.0051600933	0.00112	T	.	.	.	0.123	0.34020	.	.	0.278968121808	0.27521	0.09115188175815238	0.09048	.	.	0.580908834934	0.50214	T	0.025269	0.18927	T	-0.580823	0.00190	T	-0.583404	0.14242	T	0.116226948631499	0.14056	T	0.931207	0.74412	D	0.40557456	0.61117	0.304838	0.56512	0.40557456	0.61117	0.304838	0.56511	-9.022	0.67839	D	.	.	0.077	0.06479	B	.	.	2.528158	0.32681	19.12	0.96885567310417986	0.31477	0.77134	0.37892	D	AEFDBHI	0.278578	0.39283	N	-0.216714660441085	0.32448	1.830027	-0.410398859946899	0.24692	1.353579	0.99976283890811	0.42728	0.493124	0.18060	0	0.587265	0.34161	0	0.608004	0.38603	0	0.638787	0.57140	0	.	.	3.43	-0.293	0.12200	3.488000	0.52993	1.588000	0.27514	-0.146000	0.12295	1.000000	0.71638	0.257000	0.23957	0.244000	0.23106	0.6573:0.0:0.3427:0.0	6.625	0.22016	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004032	0.000000	0.006793	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2033.33	34	chr1	161525116	.	A	G	2033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.806;DP=808;ExcessHet=0;FS=8.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.79;MQRankSum=-4.568;QD=12.95;ReadPosRankSum=1.33;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,56:157:99:0|1:161525116_A_G:2047,0,4054:161525116	18	0	1	0
chr1	161525118	161525118	G	A	exonic	HSPA6	.	nonsynonymous SNV	HSPA6:NM_002155:exon1:c.G460A:p.D154N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	0.0026	0.0125799	0.0027	0.0308	0.0014	0	0	0.0002	0	0	0.0027663	72	26028	rs10919226	0.0008	0.0009	0.0009	0.0007	0.0263	0.0008	0.0007	0.0249	0.0243	0.0263	0.0023	0	5.038e-05	0	0.0023	4.407e-05	0.0019	2.319e-05	0.0095	0.0097	0.0094	0.0096	0.0321	0.0091	0.0089	0.0307	0.0301	0.0321	0	0.0054	0	0	0	0.0034	0.0001	0.0076	0.0002	0.001	0.78490	D	0.004	0.74150	D	0.954	0.54400	P	0.905	0.64260	P	0.000349	0.45440	U	0.000000	0.999976	0.53665	D	3.155	0.88459	M	4.73	0.01620	T	-4.05	0.74504	D	0.754	0.75283	-1.1500	0.01025	T	0.017	0.06998	T	10	0.008898795	0.00202	T	.	.	.	0.205	0.49236	.	.	0.36256342048	0.35873	0.14002850549049767	0.13925	.	.	0.703628182411	0.67670	T	0.029925	0.21330	T	-0.534961	0.00359	T	-0.517526	0.20546	T	0.0484767112377531	0.05228	T	0.970703	0.89491	D	0.66561884	0.76199	0.567717	0.74975	0.66561884	0.76200	0.567717	0.74976	-9.286	0.69519	D	.	.	0.525	0.65714	A	.	.	3.666878	0.52120	23.2	0.99813305051550061	0.89708	0.95222	0.63891	D	AEFDBHI	0.789701	0.71881	D	0.443379427600195	0.63830	4.624	0.245437203766425	0.52389	3.414144	0.999999999933495	0.74766	0.493124	0.18060	0	0.587265	0.34161	0	0.608004	0.38603	0	0.638787	0.57140	0	.	.	3.43	3.43	0.38372	6.759000	0.74730	6.768000	0.56553	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.276000	0.23917	0.0:0.0:1.0:0.0	12.383	0.54647	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004032	0.000000	0.006793	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2033.33	34	chr1	161525118	.	G	A	2033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.572;DP=805;ExcessHet=0;FS=8.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.14;MQRankSum=-4.568;QD=12.95;ReadPosRankSum=1.49;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,56:157:99:0|1:161525116_A_G:2047,0,4054:161525116	18	0	1	0
chr1	161675268	161675268	T	G	exonic	FCGR2B	.	nonsynonymous SNV	FCGR2B:NM_001190828:exon5:c.T751G:p.Y251D,FCGR2B:NM_001002275:exon6:c.T769G:p.Y257D,FCGR2B:NM_004001:exon6:c.T772G:p.Y258D	.	414	1106	2	0	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0042	.	0.0036	0.0296	0.0019	0.0020	0.0002	0.0007	0.0014	0.0035	0.0027813	430	154602	rs148534844	0.0007	0.0011	0.0007	0.0006	0.0124	0.0006	0.0006	0.0114	0.0110	0.0124	0.0006	7.712e-05	0.0011	1.875e-05	0.0009	0.0003	0.0009	0.0008	0.0013	0.0015	0.0015	0.0011	0.0040	0.0012	0.0011	0.0035	0.0033	0.0040	0	0.0003	0	0.0012	0	0	0.0002	0.0019	0	0.225	0.19225	T	0.263	0.23298	T	0.001	0.07471	B	0.006	0.12133	B	0.276032	0.03802	N	1.572250	1	0.08975	N	0	0.06538	N	1.66	0.27486	T	0.68	0.02228	N	0.157	0.16308	-1.0063	0.28065	T	0.012	0.04558	T	10	0.004578322	0.00095	T	.	.	.	0.016	0.02506	.	.	0.0762999501168	0.06990	0.17898351202306328	0.17817	1.28758288876	0.82701	0.303321242332	0.10898	T	0.014142	0.12098	T	-0.62584	0.00101	T	-0.671897	0.07487	T	0.00127545891733533	0.00013	T	0.0831917	0.00611	T	0.04978741	0.08895	0.05930132	0.11107	0.04978741	0.08895	0.05930132	0.11107	-0.382	0.00516	T	.	.	0.069	0.07697	B	.;.	.;.	0.639066	0.10078	6.824	0.94905941052269716	0.25763	0.05310	0.11159	N	AEFBI	0.049183	0.08470	N	-1.02883612828005	0.08009	0.374046	-0.93139360021902	0.11356	0.5779729	1.66714316378475E-5	0.02871	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.06	-1.78	0.07527	0.099000	0.15047	0.441000	0.18425	-0.567000	0.04800	0.599000	0.27739	0.009000	0.19889	0.604000	0.31488	0.4674:0.0:0.1509:0.3817	3.841	0.08423	823	0.40596	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002847	0.019737	0.002740	0.004386	0.000000	0.000000	0.003356	0.000000	0.05263	424.83	36	chr1	161675268	.	T	G	424.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.364;DP=798;ExcessHet=0.119;FS=3.477;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=50.58;MQRankSum=-3.578;QD=2.61;ReadPosRankSum=0.937;SOR=0.621	GT:AD:DP:GQ:PL	0/1:57,12:69:94:94,0,1606	17	0	2	0
chr1	162374071	162374071	C	T	exonic	SPATA46	.	nonsynonymous SNV	SPATA46:NM_182581:exon3:c.G763A:p.G255S	.	430	1065	27	0	0	27	0.0125174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0011	0.00399361	0.0047	9.829e-05	0.0014	0.0002	0.0003	0.0023	0.0082	0.0290	0.0039262	607	154602	rs142892903	0.0026	0.0026	0.0018	0.0034	0.0231	0.0026	0.0025	0.0222	0.0219	0.0001	0.0012	0.0186	2.523e-05	0.0001	0.0152	0.0009	0.0041	0.0231	0.0018	0.0018	0.0015	0.0020	0.0170	0.0016	0.0015	0.0140	0.0129	0.0002	0	0.0017	0.0196	0	0	0.0170	0.0011	0.0038	0.0170	0.0	0.91255	D	0.829	0.03728	T	0.013	0.16609	B	0.002	0.06944	B	0.000687	0.00666	N	22.652400	1	0.08975	N	.	.	.	1.53	0.30401	T	0.53	0.02808	N	0.077	0.05162	-1.0336	0.19300	T	0.018	0.07518	T	9	0.0026496649	0.00041	T	.	.	.	0.062	0.17934	.	.	0.0806252709748	0.07271	0.10077974902179522	0.10008	0.0254765122315	0.02602	.	.	.	0.00414	0.03552	T	-0.682564	0.00046	T	-0.734979	0.04105	T	0.0328674922105393	0.02448	T	0.330567	0.06924	T	0.06320382	0.13284	0.099307574	0.23706	0.06320382	0.13284	0.099307574	0.23705	-2.764	0.07856	T	.	.	0.078	0.06803	B	.	.	0.163990	0.05541	2.000	0.44099521468355862	0.03366	0.02574	0.07120	N	ALL	0.112465	0.22229	N	-1.13096102416399	0.06099	0.2798527	-1.09724414263715	0.07754	0.3784419	1.0	0.98316	0.486886	0.10167	0	0.586423	0.34054	0	0.315538	0.05692	2	0.562822	0.20929	0	.	.	4.95	3.03	0.34070	0.087000	0.14801	-0.034000	0.12756	-0.479000	0.05073	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7476:0.1629:0.0895	7.747	0.28043	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.005051	0.006793	0.023392	0.000000	0.008621	0.015244	0.026515	0.02632	740.33	52	chr1	162374071	.	C	T	740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=788;ExcessHet=0;FS=5.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=2.49;SOR=0.242	GT:AD:DP:GQ:PL	0/1:30,26:56:99:754,0,766	18	0	1	0
chr1	167553591	167553591	G	A	exonic	CREG1	.	nonsynonymous SNV	CREG1:NM_003851:exon1:c.C151T:p.P51S	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.24343906544	.	.	0.0026	0	0	0	.	0	0	0.0034	7.12e-05	11	154602	rs773044756	7.475e-05	7.867e-05	3.861e-05	0.0001	0.0014	6.243e-05	5.798e-05	0.0012	0.0011	0	0	0	0	0	0	9.75e-07	5.706e-05	0.0014	1.314e-05	1.312e-05	0	2.687e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.014	0.53172	D	0.008	0.67890	D	1.0	0.90584	D	0.998	0.88582	D	0.000006	0.62929	D	0.063724	0.999766	0.48888	D	2.47	0.71715	M	.	.	.	-4.55	0.78553	D	0.37	0.41162	-0.5211	0.67873	T	0.281	0.65320	T	8	0.06412181	0.08456	T	0.243439	0.88802	D	0.253	0.56294	0.35	0.34760	0.436780212511	0.43300	0.43318682421574717	0.43235	0.401420650382	0.41125	0.835001349449	0.87329	D	0.196859	0.55337	T	-0.197558	0.21158	T	-0.0919327	0.64016	T	0.255573071699542	0.23121	T	0.594141	0.21965	T	0.526658	0.68640	0.54872555	0.73910	0.526658	0.68642	0.54872555	0.73910	-6.884	0.53181	T	.	.	0.188	0.40473	B	.;.	.;.	5.293423	0.88871	29.8	0.99875856960660048	0.95328	0.84864	0.43957	D	ALL	0.707974	0.66253	D	0.682811629709604	0.78506	6.885479	0.630603019474987	0.77173	6.62872	1.0	0.98316	0.437478	0.07067	0	0.484254	0.07192	0	0.52208	0.10781	0	0.603991	0.37454	0	.	.	4.86	3.92	0.44525	6.539000	0.73760	10.520000	0.83401	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.531000	0.29730	0.0766:0.0:0.9234:0.0	13.683	0.61974	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1633.81	36	chr1	167553591	.	G	A	1633.81	.	AC=2;AF=0.053;AN=38;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.71;SOR=0.729	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1661,165,0	18	1	0	0
chr1	171334598	171334598	G	C	exonic	FMO4	.	nonsynonymous SNV	FMO4:NM_002022:exon8:c.G1015C:p.E339Q	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	.	0.0032	0.00279553	0.0010	0.0102	0.0010	0	0	0	0.0011	0	0.0009314	144	154602	rs61342270	0.0004	0.0004	0.0004	0.0004	0.0125	0.0004	0.0004	0.0115	0.0111	0.0125	0.0009	0	0	0	0.0021	2.249e-05	0.0016	0	0.0034	0.0034	0.0034	0.0034	0.0117	0.0032	0.0031	0.0109	0.0105	0.0117	0	0.0016	0	0	0	0	2.941e-05	0.0024	0	0.013	0.53900	D	0.084	0.41239	T	0.958	0.54977	D	0.947	0.68407	D	0.000028	0.55875	D	0.124146	0.855172	0.35290	D	2.4	0.69460	M	0.29	0.58897	T	-1.95	0.45222	N	0.511	0.54234	-0.5798	0.65625	T	0.248	0.61751	T	10	0.006756127	0.00153	T	.	.	.	0.139	0.37390	.	.	0.797896232723	0.79601	0.3776172023135448	0.37676	0.443545078256	0.44280	0.336194962263	0.15868	T	0.025074	0.18822	T	-0.422173	0.01657	T	-0.368167	0.37104	T	0.032054469404005	0.02315	T	0.432057	0.11757	T	0.46512192	0.64989	0.41204402	0.65418	0.46512192	0.64990	0.41204402	0.65418	-6.438	0.49806	T	.	.	0.124	0.26042	B	.	.	4.050103	0.60023	24.2	0.99759236446608301	0.84931	0.95936	0.66796	D	AEFGI	0.621215	0.60599	D	0.497507709587373	0.66944	5.016219	0.476908802876964	0.66463	4.955331	0.395204448104387	0.20082	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.63	4.71	0.59010	5.451000	0.66375	8.080000	0.76477	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0736:0.0:0.9264:0.0	13.939	0.63551	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1992.33	37	chr1	171334598	.	G	C	1992.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.891;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.453;SOR=0.738	GT:AD:DP:GQ:PL	0/1:95,74:169:99:2006,0,2679	18	0	1	0
chr1	171541451	171541451	G	A	exonic	PRRC2C	.	nonsynonymous SNV	PRRC2C:NM_015172:exon16:c.G3979A:p.D1327N	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0234623544989	0.0022	0.00199681	0.0006	0.0062	0.0004	0	0	1.525e-05	0	0	0.0005304	82	154602	rs144742399	0.0002	0.0002	0.0002	0.0002	0.0058	0.0002	0.0002	0.0051	0.0049	0.0058	0.0005	0	2.519e-05	0	0.0005	1.079e-05	0.0005	1.16e-05	0.0018	0.0018	0.0019	0.0016	0.0060	0.0016	0.0015	0.0054	0.0052	0.0060	0	0.0009	0	0	0	0	2.941e-05	0.0009	0	0.348	0.16466	T	0.408	0.14633	T	0.652	0.40767	P	0.087	0.29615	B	0.005733	0.32555	N	0.136380	0.968216	0.38645	D	0.805	0.20218	L	4.6	0.01868	T	-0.15	0.10308	N	0.187	0.20395	-0.5854	0.65403	T	0.003	0.00961	T	10	0.0044692755	0.00092	T	0.023462	0.46421	T	0.144	0.38394	.	.	0.128874641272	0.12493	0.048945602843972	0.04837	0.182269859379	0.20488	0.457548558712	0.32975	T	0.002436	0.01826	T	-0.641138	0.00082	T	-0.689301	0.06429	T	0.0158118131741702	0.00369	T	0.875712	0.58780	D	.	.	.	.	.	.	.	.	-4.692	0.33307	T	.	.	.	.	.	.;.;.	.;.;.	3.119285	0.42106	21.5	0.98596777274224845	0.43454	0.95591	0.65334	D	AEFBCI	0.722529	0.67243	D	0.159267148078842	0.49251	3.127628	0.308292198982282	0.56027	3.765542	0.999290205582231	0.39042	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	6.488000	0.73544	8.453000	0.77225	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.0:1.0:0.0	19.286	0.94059	368	0.84463	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1723.33	60	chr1	171541451	.	G	A	1723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.196;DP=1305;ExcessHet=0;FS=3.32;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.859;SOR=0.551	GT:AD:DP:GQ:PL	0/1:55,66:121:99:1737,0,1404	18	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	18693.2	75	chr1	175160810	.	C	*	18693.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.04;DP=1448;ExcessHet=1.8686;FS=0.62;InbreedingCoeff=-0.0857;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=1.21;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,75:75:99:1|1:175160809_TC_T:3177,226,0:175160809	9	2	8	0
chr1	183938855	183938855	C	T	exonic	COLGALT2	.	nonsynonymous SNV	COLGALT2:NM_001303421:exon12:c.G1427A:p.R476Q,COLGALT2:NM_015101:exon12:c.G1787A:p.R596Q	.	.	.	.	.	.	.	.	.	.	.	2216497	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.152	0.0517917718403	0.0008	.	9.885e-05	0.0009	0	0.0001	0	0	0	0.0001	7.76e-05	12	154602	rs146207368	5.678e-05	5.678e-05	4.628e-05	6.738e-05	0.0013	4.676e-05	4.301e-05	0.0010	0.0008	0.0013	4.472e-05	0	5.038e-05	0	0.0002	8.993e-06	0.0002	0.0002	0.0003	0.0003	0.0003	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	0.0001	0	0	0	0	0	0.0005	0	0.211	0.19569	T	0.517	0.10572	T	0.022	0.18677	B	0.009	0.14300	B	0.001510	0.38793	N	0.250367	0.723639	0.81001	D	0.47	0.13106	N	-1.13	0.77719	T	-0.98	0.25986	N	0.051	0.04188	-0.8559	0.51555	T	0.227	0.59171	T	10	0.031795263	0.01319	T	0.051792	0.64808	D	0.152	0.39956	.	.	0.703400743332	0.70082	0.3852375557151955	0.38438	0.342346230943	0.36172	0.345343112946	0.17234	T	0.012026	0.10639	T	-0.356349	0.04340	T	-0.340995	0.40233	T	0.0181420370882937	0.00536	T	0.825917	0.48908	T	0.08909641	0.20806	0.049842436	0.07700	0.08909641	0.20806	0.049842436	0.07699	-3.684	0.19082	T	.	.	0.075	0.05404	B	.;.;.	.;.;.	2.606086	0.33840	19.46	0.9960539428463594	0.74456	0.91600	0.53868	D	AEFDBI	0.510812	0.53970	D	-0.387936043993318	0.25898	1.409324	-0.196586428656433	0.31661	1.793941	0.411309031960755	0.20214	0.638212	0.43195	0	0.547309	0.14657	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.42	3.54	0.39650	1.950000	0.39948	0.241000	0.16308	0.599000	0.40250	1.000000	0.71638	0.975000	0.29991	0.982000	0.59238	0.0:0.8528:0.0:0.1472	11.326	0.48684	850	0.35610	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1431.33	34	chr1	183938855	.	C	T	1431.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.05;DP=791;ExcessHet=0;FS=0.698;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-0.526;SOR=0.818	GT:AD:DP:GQ:PL	0/1:72,51:123:99:1445,0,1750	18	0	1	0
chr1	183975111	183975111	A	C	exonic	COLGALT2	.	nonsynonymous SNV	COLGALT2:NM_001303420:exon3:c.T478G:p.S160A,COLGALT2:NM_001303421:exon3:c.T118G:p.S40A,COLGALT2:NM_015101:exon3:c.T478G:p.S160A	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00519244301502	0.0027	0.00119808	0.0007	0.0070	0.0005	0	0	0	0	6.101e-05	0.0005951	92	154602	rs111467167	0.0002	0.0002	0.0002	0.0002	0.0071	0.0002	0.0002	0.0063	0.0061	0.0071	0.0004	0	0	0	0.0009	2.701e-06	0.0008	9.279e-05	0.0021	0.0021	0.0021	0.0022	0.0075	0.0019	0.0019	0.0068	0.0066	0.0075	0	0.0006	0	0	0	0	1.47e-05	0.0019	0	1.0	0.00964	T	1.0	0.01155	T	0.018	0.17786	B	0.012	0.16012	B	0.000011	0.62929	D	0.067535	0.999773	0.48980	D	-1.525	0.00485	N	0.37	0.57729	T	1.66	0.00606	N	0.39	0.43126	-0.9602	0.39143	T	0.030	0.12935	T	10	0.0072930753	0.00166	T	0.005192	0.13218	T	0.077	0.22490	.	.	0.334659703779	0.33074	0.7867157743591766	0.78623	0.249879800669	0.27567	0.582294106483	0.50408	T	0.021098	0.16491	T	-0.4793	0.00746	T	-0.456411	0.26990	T	0.0378335658106943	0.03303	T	0.644736	0.25622	T	0.16635066	0.36964	0.09382709	0.22180	0.16635066	0.36963	0.09382709	0.22179	1.318	0.00098	T	.	.	0.073	0.04640	B	.;.	.;.	2.081065	0.26466	17.13	0.3954650184150994	0.02735	0.84727	0.43814	D	AEFBI	0.445141	0.50174	N	-0.518753625333691	0.21473	1.139878	-0.20529382421824	0.31344	1.773068	0.999999372985293	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.2	5.2	0.71720	3.496000	0.53050	9.328000	0.80106	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.386	0.74422	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1321.33	33	chr1	183975111	.	A	C	1321.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.46;DP=759;ExcessHet=0;FS=1.412;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.246;SOR=0.847	GT:AD:DP:GQ:PL	0/1:68,58:126:99:1335,0,1683	18	0	1	0
chr1	201210958	201210958	G	T	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.G6065T:p.G2022V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.307065267147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.516e-06	1.006e-06	3.001e-06	0	1.999e-06	0	0	.	.	0	0	0	0	0	0	1.999e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.026	0.55759	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	-3.65	0.95179	D	-0.61	0.18042	N	0.114	0.10198	-0.4787	0.69414	T	0.468	0.79508	T	6	0.13580167	0.25840	T	0.307065	0.91067	D	0.170	0.43303	0.255	0.19533	0.224531998449	0.22054	0.41653585331512727	0.41569	.	.	0.335925221443	0.15827	T	.	.	.	-0.0464112	0.44989	T	-0.304443	0.44254	T	0.0454057522712512	0.04675	T	0.412159	0.10706	T	.	.	.	.	.	.	.	.	-10.27	0.75513	D	.	.	0.115	0.22933	B	.	.	0.432808	0.08032	4.751	0.47251072722204096	0.03849	0.01912	0.05850	N	AEFBI	0.041410	0.06292	N	-1.33560854704174	0.03276	0.1460847	-1.52920946688687	0.02122	0.09713515	0.017562455714221	0.12965	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.53	-5.06	0.02725	-0.160000	0.10029	-8.721000	0.00924	-0.327000	0.05804	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1986:0.2615:0.2354:0.3045	0.515	0.00562	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.04167	1675.84	296	chr1	201210958	.	G	T	1675.84	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-0.234;DP=3443;ExcessHet=0;FS=2.07;InbreedingCoeff=0.3579;MLEAC=1;MLEAF=0.042;MQ=57.89;MQRankSum=0.194;QD=11.32;ReadPosRankSum=0.906;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,68:148:99:1|0:201210956_G_T:1686,0,3113:201210956	11	0	1	7
chr1	202158167	202158167	G	A	exonic	PTPN7	.	nonsynonymous SNV	PTPN7:NM_001364878:exon2:c.C257T:p.A86V,PTPN7:NM_080588:exon2:c.C374T:p.A125V,PTPN7:NM_001199797:exon3:c.C479T:p.A160V,PTPN7:NM_001364877:exon3:c.C257T:p.A86V,PTPN7:NM_002832:exon3:c.C257T:p.A86V	.	432	1075	15	0	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0182145862653	0.0006	0.000399361	0.0012	0.0003	0.0006	0.0003	0.0002	0.0006	0	0.0056	0.0010414	161	154602	rs149201621	0.0010	0.0010	0.0008	0.0012	0.0058	0.0009	0.0009	0.0054	0.0053	0.0001	0.0004	0	0.0001	5.623e-05	0.0033	0.0007	0.0010	0.0058	0.0006	0.0006	0.0005	0.0006	0.0044	0.0005	0.0004	0.0029	0.0024	0.0002	0.0033	0.0001	0	0	0.0003	0.0034	0.0007	0	0.0044	0.058	0.49117	T	0.119	0.40909	T	0.235	0.30743	B	0.071	0.27960	B	0.038538	0.24275	N	0.355400	1	0.81001	D	.	.	.	3.72	0.45248	T	-0.8	0.29114	N	0.192	0.23758	-1.0791	0.07524	T	0.071	0.28904	T	10	0.008551717	0.00194	T	0.018215	0.40210	T	0.075	0.21907	.	.	0.36355261348	0.35965	0.6123177138496367	0.61163	0.21174846284	0.23675	0.309781044722	0.11874	T	0.022947	0.23141	T	-0.487427	0.00671	T	-0.471289	0.25378	T	0.0127703123313459	0.00217	T	0.644736	0.28920	T	.	.	.	.	.	.	.	.	-5.11	0.38012	T	.	.	0.093	0.26419	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.325579	0.29784	18.23	0.98109745900258793	0.38343	0.62487	0.31796	D	AEFBHCI	0.142562	0.26503	N	-0.285985121300731	0.29688	1.648657	-0.168054291349961	0.32720	1.864308	0.999986809649594	0.51787	0.627647	0.40530	0	0.672317	0.65289	0	0.573078	0.19857	0	0.567892	0.33627	0	.	.	5.03	5.03	0.67015	1.348000	0.33592	0.957000	0.22964	-0.123000	0.13640	0.998000	0.41325	1.000000	0.68203	0.654000	0.32802	0.086:0.0:0.6142:0.2998	6.725	0.22539	839	0.37672	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004036	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.015267	0.05263	1865.83	37	chr1	202158167	.	G	A	1865.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.731;DP=737;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=0.706;SOR=0.698	GT:AD:DP:GQ:PL	0/1:37,39:76:99:1032,0,916	17	0	2	0
chr1	203044717	203044717	G	C	exonic	PPFIA4	.	nonsynonymous SNV	PPFIA4:NM_001304331:exon6:c.G598C:p.A200P,PPFIA4:NM_001304332:exon6:c.G598C:p.A200P	.	418	1100	3	1	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	0.00559105	0.0098	0	0	0	0	0	0.0065	0.0209	0.0018887	292	154602	rs542912164	0.0012	0.0012	0.0006	0.0018	0.0202	0.0012	0.0011	0.0194	0.0191	3.1e-05	0	3.963e-05	2.705e-05	0	0.0004	7.378e-06	0.0011	0.0202	0.0007	0.0007	0.0005	0.0010	0.0220	0.0006	0.0006	0.0186	0.0173	4.81e-05	0	0	0	0.0002	0	0.0034	0	0.0005	0.0220	0.272	0.15930	T	0.253	0.23776	T	.	.	.	.	.	.	0.111222	0.19409	U	0.358632	0.880091	0.81001	D	0.69	0.16971	N	0.84	0.47477	T	-0.81	0.27052	N	0.482	0.51672	-1.0526	0.13682	T	0.094	0.35684	T	9	0.0058195293	0.00130	T	.	.	.	0.055	0.15663	0.221	0.14371	0.606927088724	0.60377	0.36520268360004476	0.36434	.	.	0.452153027058	0.32237	T	0.006382	0.06968	T	-0.480141	0.00738	T	-0.44687	0.28043	T	0.0127619835099053	0.00216	T	0.665033	0.29515	T	0.2162293	0.44076	0.23259911	0.48425	0.2162293	0.44076	0.23259911	0.48424	-3.342	0.14285	T	.	.	0.069	0.05979	B	.;.	.;.	2.169456	0.27642	17.53	0.98297295011862407	0.40011	0.16646	0.19484	N	AEFDBI	0.248188	0.36864	N	-0.458588588723288	0.23450	1.259364	-0.367095271768177	0.25985	1.432444	0.999994029025506	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.608524	0.38960	0	0.542086	0.14980	0	.	.	5.51	3.49	0.39065	0.518000	0.22554	1.951000	0.29885	-0.242000	0.07441	0.961000	0.33663	1.000000	0.68203	0.880000	0.42090	0.0:0.0:0.6766:0.3234	11.568	0.50067	735	0.53711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2165.33	33	chr1	203044717	.	G	C	2165.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.177;DP=790;ExcessHet=0;FS=2.834;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.829;SOR=0.964	GT:AD:DP:GQ:PL	0/1:80,82:162:99:2179,0,2074	18	0	1	0
chr1	204245627	204245627	C	T	exonic	PLEKHA6	.	nonsynonymous SNV	PLEKHA6:NM_014935:exon14:c.G2020A:p.A674T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0300529754648	7.7e-05	.	0.0001	9.621e-05	0	0.0001	0	9.027e-05	0	0.0006	0.0001164	18	154602	rs368833612	7.975e-05	8.62e-05	5.339e-05	0.0001	0.0006	6.767e-05	6.298e-05	0.0004	0.0004	2.997e-05	4.476e-05	0	2.521e-05	3.772e-05	0.0003	5.154e-05	4.989e-05	0.0006	6.577e-05	6.568e-05	6.428e-05	6.732e-05	0.0002	3.52e-05	2.618e-05	3.253e-05	1.917e-05	9.667e-05	0	6.548e-05	0	0	0	0	5.883e-05	0	0.0002	0.365	0.13003	T	0.092	0.39954	T	0.727	0.42493	P	0.096	0.30313	B	0.591331	0.11047	N	0.828472	1	0.81001	D	1.31	0.32734	L	1.33	0.35031	T	-0.62	0.21644	N	0.681	0.68777	-0.9706	0.37073	T	0.084	0.32786	T	10	0.11539081	0.21739	T	0.030053	0.52447	D	0.125	0.34456	.	.	0.225033846419	0.22103	0.42390571159989043	0.42307	0.406651737621	0.41543	0.768185973167	0.77153	T	0.027232	0.19988	T	-0.216418	0.18483	T	-0.176382	0.56858	T	0.108113887129382	0.13227	T	0.983668	0.94463	D	0.10180089	0.24048	0.08098812	0.18368	0.10180089	0.24048	0.08098812	0.18368	-8.536	0.64667	D	.	.	0.250	0.49008	B	.;.;.	.;.;.	4.386867	0.67666	25.1	0.99836772121544926	0.91800	0.98899	0.88348	D	AEFDGBI	0.724426	0.67373	D	0.176344624508035	0.50065	3.200165	0.271528151011108	0.53884	3.555282	0.999999999999623	0.74766	0.638212	0.43195	0	0.563428	0.19063	0	0.616094	0.41390	0	0.668105	0.65232	0	.	.	5.13	5.13	0.69729	5.222000	0.65109	7.587000	0.61135	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.536000	0.29845	0.0:1.0:0.0:0.0	18.181	0.89710	644	0.63734	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1191.33	41	chr1	204245627	.	C	T	1191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.503;DP=741;ExcessHet=0;FS=6.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=2.21;SOR=0.308	GT:AD:DP:GQ:PL	0/1:51,48:99:99:1205,0,1362	18	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	3415.12	35	chr1	204444146	.	C	T	3415.12	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.545;DP=2707;ExcessHet=20.8569;FS=226.245;InbreedingCoeff=-0.6776;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=0.629;SOR=12.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:139,38:179:99:.:.:108,0,4618:.	4	0	15	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R,PIK3C2B:NM_002646:exon20:c.T2788C:p.C930R,PIK3C2B:NM_001377335:exon21:c.T2704C:p.C902R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1875.17	35	chr1	204444147	.	A	G	1875.17	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.464;DP=2529;ExcessHet=6.9875;FS=190.86;InbreedingCoeff=-0.3572;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=1.46;SOR=11.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:135,44:179:99:.:.:551,0,3322:.	9	0	10	0
chr1	205064636	205064636	C	A	exonic	CNTN2	.	nonsynonymous SNV	CNTN2:NM_001346083:exon12:c.C1405A:p.P469T,CNTN2:NM_005076:exon12:c.C1405A:p.P469T	.	429	1082	11	0	0	11	0.00505747	.	.	.	447696	CNTN2-related_disorder|Epilepsy,_familial_adult_myoclonic,_5	.|MONDO:MONDO:0014167,MedGen:C3809374,OMIM:615400,Orphanet:86814	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	0.0209714001438	0.0015	0.00139776	0.0017	0	0.0022	0	0	0.0023	0.0033	0.0015	0.0016623	257	154602	rs147693556	0.0021	0.0021	0.0020	0.0022	0.0068	0.0021	0.0020	0.0051	0.0045	0.0002	0.0015	0.0013	0	7.488e-05	0.0068	0.0024	0.0026	0.0019	0.0016	0.0016	0.0018	0.0014	0.0024	0.0014	0.0014	0.0020	0.0019	0.0002	0.0263	0.0024	0.0014	0	0	0.0068	0.0023	0.0028	0.0017	0.245	0.17410	T	0.483	0.11795	T	0.066	0.23586	B	0.102	0.30857	B	0.517359	0.11780	N	0.739987	0.764271	0.29506	N	1.065	0.27018	L	-0.18	0.65747	T	-1.58	0.38151	N	0.072	0.04547	-0.8319	0.53178	T	0.158	0.49161	T	10	0.0072214603	0.00164	T	0.020971	0.43663	T	0.041	0.10877	.	.	0.805989234046	0.80417	0.4562943859375925	0.45547	0.522610008405	0.49982	0.364295601845	0.20009	T	0.181402	0.53306	T	-0.442972	0.01242	T	-0.413379	0.31838	T	0.00727820218271539	0.00083	T	0.842016	0.51794	T	0.071878	0.15946	0.073502965	0.15979	0.071878	0.15945	0.073502965	0.15979	-6.144	0.47468	T	.	.	0.140	0.30739	B	.;.;.	.;.;.	2.564007	0.33215	19.27	0.92072947739311206	0.21420	0.83970	0.43059	D	AEFDBI	0.484428	0.52445	N	-0.266440301799545	0.30453	1.69816	-0.174129710219315	0.32491	1.849031	0.602848110557931	0.21740	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.47	3.54	0.39650	1.201000	0.31866	3.305000	0.37415	0.599000	0.40250	0.110000	0.22992	0.121000	0.22902	0.987000	0.62547	0.0:0.5243:0.3971:0.0786	9.444	0.37847	369	0.84396	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.006793	0.000000	0.000000	0.008621	0.012195	0.003788	0.05263	2524.83	40	chr1	205064636	.	C	A	2524.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.674;DP=879;ExcessHet=0.119;FS=5.524;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=1.31;SOR=0.898	GT:AD:DP:GQ:PL	0/1:75,50:125:99:1249,0,2041	17	0	2	0
chr1	205915010	205915010	C	T	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_134325:exon22:c.G2546A:p.R849Q	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	.	0.0039	0.00758786	0.0076	0.0012	0.0028	0.0122	0.0011	0.0057	0.0066	0.0228	0.0072315	1118	154602	rs140760240	0.0060	0.0060	0.0053	0.0066	0.0283	0.0058	0.0058	0.0247	0.0234	0.0013	0.0038	0.0086	0.0104	0.0009	0.0283	0.0047	0.0069	0.0228	0.0046	0.0046	0.0046	0.0047	0.0155	0.0044	0.0042	0.0127	0.0117	0.0013	0	0.0041	0.0087	0.0133	0.0004	0.0102	0.0059	0.0047	0.0155	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.000003	0.00162	N	14.346700	1	0.08975	N	.	.	.	-3.25	0.93532	D	0.0	0.07008	N	0.071	0.04426	-0.3220	0.74366	T	0.403	0.75338	T	10	0.0027073324	0.00042	T	.	.	.	0.300	0.62068	.	.	0.194818534648	0.19098	0.01893306541877592	0.01847	0.157990632338	0.17844	0.204608500004	0.00603	T	.	.	.	-0.420421	0.01699	T	-0.359096	0.38158	T	0.0319549881320626	0.02299	T	0.394461	0.09873	T	.	.	.	.	.	.	.	.	-2.854	0.08691	T	.	.	0.086	0.10931	B	.;.	.;.	0.554397	0.09227	6.012	0.63638908723729615	0.07277	0.03938	0.09333	N	AEFGBI	0.081607	0.16514	N	-1.3979216659568	0.02658	0.1176788	-1.38142597711257	0.03449	0.1609509	0.992175131580337	0.32745	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.59	2.76	0.31527	0.003000	0.12984	0.330000	0.17274	-1.718000	0.00733	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.9104:0.0:0.0896	12.608	0.55889	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018127	0.005051	0.020380	0.023392	0.000000	0.034483	0.018293	0.011364	0.05263	5515.83	33	chr1	205915010	.	C	T	5515.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.03;DP=1124;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.595;SOR=0.694	GT:AD:DP:GQ:PL	0/1:98,121:219:99:3261,0,2266	17	0	2	0
chr1	206507843	206507843	C	G	exonic	RASSF5	.	nonsynonymous SNV	RASSF5:NM_182663:exon1:c.C241G:p.R81G,RASSF5:NM_182664:exon1:c.C241G:p.R81G	.	0	225	1	0	0	1	0.00221729	.	.	.	2766940	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.291336521578	.	.	0.0013	0	0	0	.	0	0	0.0018	6.47e-05	10	154602	rs782542315	6.553e-05	6.293e-05	3.491e-05	9.715e-05	0.0010	5.42e-05	4.993e-05	0.0008	0.0007	0	0	0	0	0	0	1.347e-05	7.435e-05	0.0010	5.256e-05	5.25e-05	1.286e-05	9.405e-05	0.0012	2.557e-05	1.83e-05	0.0005	0.0004	0	0	0	0	0	0	0	2.942e-05	0	0.0012	.	.	.	0.502	0.11115	T	0.979	0.68779	D	0.756	0.62173	P	0.145862	0.18132	N	0.564800	0.949446	0.26537	N	0.805	0.20218	L	3.01	0.15492	T	.	.	.	0.275	0.32481	-1.1156	0.02630	T	0.051	0.21689	T	10	0.050320774	0.04748	T	0.291337	0.90574	D	.	.	.	.	0.424313518543	0.42050	0.3852547006531023	0.38440	.	.	0.926956057549	0.98806	D	0.043066	0.26383	T	-0.437367	0.01340	T	-0.446575	0.28076	T	0.230857772328793	0.21992	T	0.769523	0.41827	T	0.2800186	0.51050	0.30568677	0.56595	0.2800186	0.51050	0.30568677	0.56594	-3.886	0.22092	T	.	.	0.091	0.28521	B	.;.;.	.;.;.	3.811532	0.54986	23.6	0.99611300115704871	0.74813	0.77135	0.37893	D	AEFDBCI	0.365704	0.45378	N	0.121313452952391	0.47458	2.971244	0.10631280754417	0.44870	2.760548	0.999999995391462	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.33	3.33	0.37245	1.946000	0.39909	7.445000	0.58908	0.328000	0.19510	1.000000	0.71638	1.000000	0.68203	0.453000	0.27962	0.0:1.0:0.0:0.0	11.992	0.52469	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	330.33	17	chr1	206507843	.	C	G	330.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=440;ExcessHet=0;FS=1.52;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.813;SOR=1.123	GT:AD:DP:GQ:PL	0/1:16,12:28:99:344,0,415	18	0	1	0
chr1	212100360	212100360	A	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.A557G:p.D186G,DTL:NM_001286230:exon13:c.A1244G:p.D415G,DTL:NM_016448:exon14:c.A1370G:p.D457G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0705558454721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.851e-05	0.0028	0.0001	7.4e-05	0.0004	7.568e-05	7.088e-05	8.625e-05	8.04e-05	0.0002	0	7.808e-05	0	0	0.0004	0.0001	8.675e-05	2.365e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.106	0.39340	T	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.058592	0.999257	0.46462	D	2.25	0.63811	M	-0.7	0.72785	T	-1.67	0.40468	N	0.749	0.74826	-0.3539	0.73441	T	0.438	0.77695	T	10	0.75805414	0.76133	D	0.070556	0.71033	D	0.526	0.79947	0.319	0.29741	0.808314291208	0.80651	0.3264893862643791	0.32561	0.86120817891	0.68970	0.44428807497	0.31164	T	0.329649	0.69993	T	0.19523	0.73447	D	0.0426576	0.73102	D	0.955969452857971	0.64639	D	0.89741	0.64114	D	0.3560679	0.57536	0.23249285	0.48411	0.3560679	0.57536	0.23249285	0.48410	-2.972	0.09882	T	.	.	0.269	0.50334	B	.;.	.;.	4.309799	0.65871	24.9	0.99831915659102677	0.91370	0.96274	0.68342	D	AEFGBI	0.726655	0.67525	D	0.474501222025507	0.65606	4.843659	0.455932996682415	0.65097	4.781064	0.999162801006358	0.38622	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	4.24	0.49486	5.910000	0.69668	9.238000	0.79403	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8598:0.1402:0.0:0.0	12.458	0.55050	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	930.87	95	chr1	212100360	.	A	G	930.87	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.957;DP=2027;ExcessHet=4.0268;FS=98.304;InbreedingCoeff=-0.2734;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.44;SOR=10.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,20:122:99:0|1:212100360_A_G:155,0,3933:212100360	11	0	8	0
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E,DTL:NM_001286230:exon13:c.C1245G:p.D415E,DTL:NM_016448:exon14:c.C1371G:p.D457E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0329555447533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37e-05	0.0014	5.667e-05	3.064e-05	5.487e-05	3.491e-05	3.173e-05	4.337e-05	3.902e-05	3.026e-05	0	3.843e-05	0	0	0	5.487e-05	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.171	0.31936	T	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.058592	0.989147	0.40895	D	2.25	0.63811	M	-0.6	0.71662	T	-0.8	0.22294	N	0.349	0.39052	-0.3807	0.72629	T	0.393	0.74685	T	10	0.3230481	0.49647	T	0.032956	0.54641	D	0.311	0.63269	0.299	0.26522	0.740948349148	0.73862	0.17433452095652613	0.17352	0.336806597811	0.35678	0.457547277212	0.32974	T	0.149432	0.48844	T	0.025508	0.55121	T	-0.201136	0.54540	T	0.753782212734222	0.43497	D	0.759324	0.38363	T	0.3453272	0.56701	0.20157085	0.44143	0.3453272	0.56701	0.20157085	0.44142	-3.559	0.17267	T	.	.	0.298	0.52841	B	.;.	.;.	3.620151	0.51223	23.1	0.99649687588057234	0.77192	0.89840	0.50569	D	AEFGBI	0.335728	0.43407	N	0.202993589347586	0.51343	3.316385	0.188628048828177	0.49223	3.128123	0.997589750058845	0.35786	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.55	0.39770	1.268000	0.32665	1.684000	0.28029	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8588:0.0:0.1412	11.901	0.51966	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	937.38	80	chr1	212100361	.	C	G	937.38	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-3.466;DP=1965;ExcessHet=4.0268;FS=98.435;InbreedingCoeff=-0.3233;MLEAC=9;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.49;SOR=10.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,20:122:99:0|1:212100360_A_G:155,0,3933:212100360	10	0	8	1
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V,DTL:NM_001286230:exon13:c.C1246G:p.L416V,DTL:NM_016448:exon14:c.C1372G:p.L458V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0545165954567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.438	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.25	0.63811	M	-0.81	0.73949	T	-0.71	0.20358	N	0.513	0.54409	-0.1746	0.78316	T	0.536	0.82849	D	10	0.37823913	0.53996	T	0.054517	0.65885	D	0.250	0.55888	0.198	0.11110	0.766922051636	0.76479	0.22416353566131936	0.22331	1.04972523653	0.76107	0.472474902868	0.35021	T	0.11718	0.43707	T	0.00178878	0.51901	T	-0.235207	0.51265	T	0.933079659938812	0.59956	D	0.891311	0.62583	D	0.38030902	0.59339	0.26082087	0.51851	0.38030902	0.59339	0.26082087	0.51850	-4.02	0.24102	T	.	.	0.169	0.37235	B	.;.	.;.	4.139380	0.62006	24.4	0.99826959884761401	0.90939	0.96985	0.72028	D	AEFGBI	0.698434	0.65611	D	0.646827706149991	0.76162	6.436104	0.648942237263915	0.78531	6.895201	0.9999999853233	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.006000	0.63731	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.553	0.95324	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1842	881.54	71	chr1	212100362	.	C	G	881.54	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-4.876;DP=1669;ExcessHet=2.9153;FS=98.304;InbreedingCoeff=-0.2277;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=1.65;SOR=8.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,20:122:99:0|1:212100360_A_G:155,0,3933:212100360	12	0	7	0
chr1	212766267	212766267	T	C	exonic	NSL1	.	nonsynonymous SNV	NSL1:NM_001042549:exon5:c.A506G:p.N169S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.000769052928371	.	.	.	.	.	.	.	.	.	.	.	.	.	rs890044155	2.076e-06	3.181e-06	0	3.804e-06	.	0	0	.	.	0	0	0	0	0	0	0	3.681e-05	0	6.577e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.447	0.13066	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.17	0.18103	-1.0329	0.19522	T	0.055	0.23148	T	7	0.08486748	0.14268	T	7.69E-4	0.00568	T	.	.	.	.	0.233785782151	0.22967	.	.	.	.	.	.	.	.	.	.	-0.342529	0.05214	T	-0.729796	0.04337	T	0.0250359026030656	0.01277	T	0.320668	0.06474	T	.	.	.	.	.	.	.	.	-2.754	0.07768	T	.	.	0.069	0.03266	B	.	.	0.409083	0.07802	4.491	0.67812588076391944	0.08467	0.00207	0.01180	N	AEFBI	0.030131	0.02974	N	-1.28019066554531	0.03914	0.175734	-1.35455424429624	0.03752	0.1756913	0.00158323347810001	0.08668	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	.	.	.	0.137000	0.15816	-1.210000	0.06016	0.158000	0.17713	0.052000	0.21487	0.000000	0.08366	0.034000	0.13613	.	.	.	883	0.28872	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	307.33	30	chr1	212766267	.	T	C	307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.631;DP=608;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=-0.486;SOR=0.738	GT:AD:DP:GQ:PL	0/1:19,15:34:99:321,0,479	18	0	1	0
chr1	220074013	220074013	G	A	exonic	BPNT1	.	nonsynonymous SNV	BPNT1:NM_001286149:exon2:c.C14T:p.S5F,BPNT1:NM_001286151:exon2:c.C14T:p.S5F,BPNT1:NM_001286150:exon3:c.C179T:p.S60F,BPNT1:NM_006085:exon3:c.C179T:p.S60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0154197554854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.011	0.66756	D	0.976	0.73220	D	0.656	0.69447	P	0.000211	0.47681	D	0.219548	0.999952	0.52396	D	1.88	0.49984	L	0.6	0.53731	T	-2.97	0.67477	D	0.277	0.45142	-0.4230	0.71293	T	0.324	0.69229	T	10	0.43486527	0.57728	T	0.01542	0.36141	T	0.232	0.53354	0.559	0.67821	0.389750110748	0.38591	0.5169334974436691	0.51616	1.08208159744	0.77162	0.426841616631	0.28777	T	0.301469	0.74289	T	0.0152297	0.53736	T	-0.2159	0.53131	T	0.982898235321045	0.74768	D	0.950605	0.94694	D	0.48621652	0.66276	0.29615304	0.55647	0.48621652	0.66276	0.29615304	0.55646	-6.095	0.52752	T	.	.	0.301	0.53557	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.250497	0.88155	29.5	0.99866309272931864	0.94457	0.98053	0.79201	D	AEFBI	0.917709	0.88573	D	0.72359014131207	0.81179	7.461924	0.748747437073254	0.86064	8.771071	0.99999998547948	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	9.014000	0.93156	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.965	0.92670	824	0.40336	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1471	131.11	54	chr1	220074013	.	G	A	131.11	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-3.058;DP=1660;ExcessHet=1.3;FS=292.203;InbreedingCoeff=-0.1978;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=1.63;SOR=11.716	GT:AD:DP:GQ:PL	0/1:70,28:118:44:44,0,1179	12	0	5	2
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	441.37	57	chr1	220154029	.	G	C	441.37	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-2.586;DP=1759;ExcessHet=8.9063;FS=228.055;InbreedingCoeff=-0.3733;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=-0.074;SOR=12.31	GT:AD:DP:GQ:PL	0/1:62,24:95:20:20,0,847	8	0	11	0
chr1	225887053	225887053	C	T	exonic	LEFTY1	.	nonsynonymous SNV	LEFTY1:NM_020997:exon4:c.G775A:p.E259K	.	407	1110	5	0	0	5	0.00224719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0006	0.0207668	0.0128	0.0001	0.0423	0.0561	0.0063	0.0011	0.0067	0.0269	0.0110865	1714	154602	rs139440539	0.0045	0.0045	0.0042	0.0047	0.0506	0.0044	0.0043	0.0488	0.0480	0.0003	0.0401	0.0096	0.0506	0.0046	0.0020	0.0002	0.0055	0.0205	0.0062	0.0062	0.0050	0.0074	0.0534	0.0058	0.0057	0.0482	0.0462	0.0005	0	0.0252	0.0109	0.0534	0.0063	0	0.0003	0.0085	0.0237	0.312	0.13925	T	0.39	0.15506	T	0.022	0.18677	B	0.004	0.10090	B	0.105156	0.19671	N	0.592800	1	0.08975	N	0.55	0.14455	N	-0.42	0.69536	T	-0.39	0.13611	N	0.026	0.00527	-1.0812	0.07118	T	0.027	0.11485	T	10	0.0019119382	0.00026	T	.	.	.	0.037	0.09474	.	.	.	.	0.4865087241018139	0.48570	0.151744481588	0.17126	0.341372728348	0.16644	T	0.067401	0.33193	T	-0.457037	0.01025	T	-0.37743	0.36023	T	0.0230047872861298	0.01024	T	0.80202	0.44827	T	0.11828133	0.27871	0.07960381	0.17936	0.11828133	0.27871	0.07960381	0.17936	-4.462	0.30388	T	.	.	0.066	0.02228	B	.	.	1.275105	0.16744	12.74	0.95747888485610688	0.27715	0.15028	0.18708	N	AEFDBI	0.094474	0.19102	N	-0.943973399643489	0.09828	0.4669095	-0.913221785166412	0.11782	0.6023175	0.999952776522489	0.48110	0.0	0.00013	3	0.547309	0.14657	0	0.584781	0.30282	0	0.613276	0.41899	0	.	.	4.14	0.865	0.18211	0.698000	0.25249	-1.579000	0.05130	0.549000	0.26987	0.060000	0.21767	0.000000	0.08366	0.078000	0.17132	0.0:0.4741:0.4426:0.0833	8.754	0.33792	741	0.52966	Transforming growth factor-beta, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004090	0.000000	0.000000	0.000000	0.000000	0.000000	0.006329	0.015152	0.02632	1983.33	43	chr1	225887053	.	C	T	1983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=991;ExcessHet=0;FS=1.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=-0.193;QD=12.32;ReadPosRankSum=0.694;SOR=0.557	GT:AD:DP:GQ:PL	0/1:85,76:161:99:1997,0,2110	18	0	1	0
chr1	228318024	228318024	A	C	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon53:c.A13982C:p.E4661A,OBSCN:NM_052843:exon53:c.A13982C:p.E4661A,OBSCN:NM_001271223:exon64:c.A16853C:p.E5618A	.	0	1510	12	0	0	12	0.00395778	.	.	.	732229	not_provided|not_specified|OBSCN-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.399	0.18031691965	0.0006	0.000399361	0.0011	0.0001	0.0003	0	0	0.0018	0.0033	0.0007	0.0009638	149	154602	rs200399314	0.0008	0.0008	0.0008	0.0009	0.0147	0.0008	0.0008	0.0122	0.0113	0.0004	0.0004	0.0212	0	0	0.0147	0.0003	0.0024	0.0005	0.0008	0.0008	0.0008	0.0008	0.0005	0.0007	0.0006	0.0003	0.0003	4.816e-05	0	0.0005	0.0213	0	0	0.0102	0.0004	0.0024	0.0004	0.009	0.57480	D	0.007	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000216	0.47681	D	0.083348	0.999649	0.48019	D	2.115	0.58683	M	-0.3	0.67874	T	-3.31	0.68178	D	0.354	0.39558	-0.1637	0.78580	T	0.430	0.77186	T	10	0.0078092813	0.00177	T	0.180317	0.85482	D	0.399	0.71321	.	.	0.867104878925	0.86581	0.5149812329719438	0.51421	0.497118212147	0.48206	0.495967596769	0.38266	T	0.223638	0.58785	T	-0.266614	0.12137	T	-0.253157	0.49505	T	0.100813378503162	0.12446	T	0.90081	0.65538	D	0.27301317	0.50370	0.23747745	0.49046	0.30178356	0.53064	0.22069426	0.46853	-2.859	0.12776	T	.	.	0.503	0.64740	A	.;.;.;.;.	.;.;.;.;.	2.667864	0.34770	19.72	0.98243915337798793	0.39512	0.94452	0.61211	D	AEFDBI	0.280277	0.39413	N	0.379070642612692	0.60288	4.216268	0.285924677604066	0.54715	3.635864	0.99967231649249	0.41644	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.51	4.51	0.54589	1.593000	0.36297	10.933000	0.84297	0.688000	0.82842	0.445000	0.26527	1.000000	0.68203	0.005000	0.06747	1.0:0.0:0.0:0.0	13.677	0.61936	443	0.79878	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.007553	0.005051	0.005435	0.026316	0.050000	0.008621	0.000000	0.000000	0.02632	963.33	35	chr1	228318024	.	A	C	963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.792;DP=1127;ExcessHet=0;FS=3.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.954;SOR=0.969	GT:AD:DP:GQ:PL	0/1:50,40:90:99:977,0,1536	18	0	1	0
chr1	229635700	229635702	CTA	-	exonic	URB2	.	nonframeshift deletion	URB2:NM_001314021:exon4:c.1087_1089del:p.L364del,URB2:NM_014777:exon4:c.1087_1089del:p.L364del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2047.29	33	chr1	229635699	.	GCTA	G	2047.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.237;DP=793;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.5;ReadPosRankSum=-0.955;SOR=0.655	GT:AD:DP:GQ:PL	0/1:52,53:105:99:2061,0,2003	18	0	1	0
chr1	230236021	230236021	C	T	exonic	GALNT2	.	nonsynonymous SNV	GALNT2:NM_001291866:exon4:c.C268T:p.R90W,GALNT2:NM_004481:exon4:c.C382T:p.R128W	.	.	.	.	.	.	.	.	.	.	.	2436112	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.194	0.0490520797103	.	.	3.345e-05	0	0	0.0001	0	3.032e-05	0	6.111e-05	2.59e-05	4	154602	rs779465339	2.6e-05	2.599e-05	1.77e-05	3.438e-05	0.0003	1.933e-05	1.692e-05	0.0002	0.0002	0	0	0	0.0002	0	0	6.296e-06	0	0.0003	6.573e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.017	0.51248	D	0.013	0.63109	D	0.988	0.62325	D	0.278	0.40236	B	0.000452	0.44317	D	0.146811	0.994513	0.42311	D	1.67	0.42885	L	0.21	0.59983	T	-3.27	0.65512	D	0.614	0.63035	-0.7676	0.56989	T	0.155	0.48619	T	10	0.4725099	0.59947	T	0.049052	0.63645	D	0.194	0.47447	.	.	0.382607109125	0.37878	0.4521132933090152	0.45129	0.700212891818	0.61091	0.561659157276	0.47501	T	0.258789	0.62997	T	-0.192965	0.21824	T	-0.255278	0.49294	T	0.566881358623505	0.35115	D	0.979152	0.92740	D	0.5027352	0.67255	0.2610678	0.51878	0.5027352	0.67256	0.2610678	0.51877	-13.278	0.90475	D	0.2153270997613053	0.28947	0.136	0.29642	B	.	.	4.315537	0.66008	24.9	0.99846227485062866	0.92576	0.87244	0.46725	D	AEFDBI	0.608479	0.59804	D	0.219475934166262	0.52143	3.390455	0.236444327362488	0.51882	3.367025	0.964578413790703	0.28770	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.18	3.13	0.35090	2.075000	0.41163	0.829000	0.21929	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.984000	0.60418	0.5365:0.4635:0.0:0.0	11.193	0.47921	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	.	.	.	.	.	.	.	.	0.02632	1525.33	33	chr1	230236021	.	C	T	1525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.169;DP=786;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-1.915;SOR=0.717	GT:AD:DP:GQ:PL	0/1:66,60:126:99:1539,0,1679	18	0	1	0
chr1	230978796	230978796	-	AGC	exonic	TTC13	.	nonframeshift insertion	TTC13:NM_001122835:exon1:c.34_35insGCT:p.C11_F12insC,TTC13:NM_001376507:exon1:c.34_35insGCT:p.C11_F12insC,TTC13:NM_001376508:exon1:c.34_35insGCT:p.C11_F12insC,TTC13:NM_001376509:exon1:c.34_35insGCT:p.C11_F12insC,TTC13:NM_001376510:exon1:c.34_35insGCT:p.C11_F12insC,TTC13:NM_001376511:exon1:c.34_35insGCT:p.C11_F12insC,TTC13:NM_001376512:exon1:c.34_35insGCT:p.C11_F12insC,TTC13:NM_001376513:exon1:c.34_35insGCT:p.C11_F12insC,TTC13:NM_001376514:exon1:c.34_35insGCT:p.C11_F12insC,TTC13:NM_024525:exon1:c.34_35insGCT:p.C11_F12insC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	0.0014	0.0259	0	0	0	0.0015	0	0.0009	0.0017289	45	26028	rs577954914	0.0009	0.0009	0.0009	0.0009	0.0116	0.0009	0.0008	0.0105	0.0101	0.0116	0.0016	4.296e-05	0.0003	0.0002	0.0020	0.0006	0.0015	0.0010	0.0044	0.0044	0.0044	0.0044	0.0139	0.0042	0.0041	0.0129	0.0125	0.0139	0	0.0030	0	0.0002	9.45e-05	0	0.0006	0.0043	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	962.29	41	chr1	230978796	.	A	AAGC	962.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.918;DP=704;ExcessHet=0;FS=2.425;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.64;ReadPosRankSum=1.46;SOR=0.832	GT:AD:DP:GQ:PL	0/1:24,25:49:99:976,0,930	18	0	1	0
chr1	236205252	236205252	-	AAGA	splicing	GPR137B	NM_003272:exon6:c.1091+2->AAGA	.	.	.	426	1085	11	0	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061	0.00279553	0.0084	0.0013	0.0039	0	0.0044	0.0113	0.0044	0.0110	0.0002135	33	154602	rs565202568	0.0090	0.0091	0.0088	0.0093	0.0108	0.0089	0.0089	0.0103	0.0100	0.0016	0.0038	0.0056	2.521e-05	0.0055	0.0038	0.0100	0.0079	0.0108	0.0068	0.0068	0.0068	0.0068	0.0111	0.0064	0.0063	0.0104	0.0102	0.0014	0.0099	0.0059	0.0061	0	0.0042	0	0.0111	0.0019	0.0102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3238.29	40	chr1	236205252	.	T	TAAGA	3238.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.79;DP=858;ExcessHet=0;FS=4.82;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.5;ReadPosRankSum=-1.391;SOR=0.426	GT:AD:DP:GQ:PL	0/1:75,83:158:99:3252,0,2900	18	0	1	0
chr1	240207756	240207821	CCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	-	exonic	FMN2	.	nonframeshift deletion	FMN2:NM_020066:exon5:c.2944_3009del:p.A1083_G1104del,FMN2:NM_001305424:exon6:c.2956_3021del:p.A1087_G1108del	Mental retardation, autosomal recessive 47, Autosomal recessive	612	898	2	0	10	12	0.00111235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0171	0.0155	0.0051	0.0004	0.0179	0.0181	0.0172	0.0336	0.0004995	13	26028	.	0.0033	0.0039	0.0033	0.0034	0.0057	0.0033	0.0032	0.0052	0.0050	0.0025	0.0018	0.0026	0.0002	0.0037	0.0041	0.0034	0.0034	0.0057	0.0009	0.0052	0.0008	0.0010	0.0020	0.0007	0.0006	0.0007	0.0006	0.0011	0.0025	0.0007	0.0006	0	0.0003	0	0.0009	0.0012	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	487.79	108	chr1	240207755	.	ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	A	487.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0;DP=1071;ExcessHet=0.119;FS=1.057;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=54.42;MQRankSum=2.27;QD=7.17;ReadPosRankSum=3.17;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,9:31:99:.:.:253,0,753:.	17	0	2	0
chr1	240207775	240207775	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	746	721	41	8	6	63	0.0380254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	2068.68	101	chr1	240207775	.	C	*	2068.68	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-0.766;DP=999;ExcessHet=0.9858;FS=1.859;InbreedingCoeff=0.015;MLEAC=3;MLEAF=0.115;MQ=52.21;MQRankSum=1.95;QD=11.62;ReadPosRankSum=1.79;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,9:31:99:.:.:253,0,753:.	11	0	2	6
chr1	240207785	240207785	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2773.08	86	chr1	240207785	.	A	*	2773.08	.	AC=2;AF=0.083;AN=24;BaseQRankSum=2.17;DP=919;ExcessHet=1.1622;FS=5.058;InbreedingCoeff=0.0952;MLEAC=3;MLEAF=0.125;MQ=51.72;MQRankSum=0.612;QD=14.75;ReadPosRankSum=2.3;SOR=0.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,9:31:99:.:.:253,0,753:.	10	0	2	7
chr1	240207788	240207788	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1279.48	83	chr1	240207788	.	T	*	1279.48	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.459;DP=884;ExcessHet=0.3672;FS=0.686;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=50.91;MQRankSum=1.45;QD=10.94;ReadPosRankSum=-0.302;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,9:31:99:.:.:253,0,753:.	17	0	2	0
chr1	240207797	240207797	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	935	562	18	1	6	26	0.0174825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	578.26	74	chr1	240207797	.	G	*	578.26	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-0.636;DP=794;ExcessHet=0.4742;FS=2.654;InbreedingCoeff=0.0863;MLEAC=3;MLEAF=0.115;MQ=52.11;MQRankSum=-0.042;QD=5.16;ReadPosRankSum=1.76;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,9:31:99:.:.:253,0,753:.	11	0	2	6
chr1	240207800	240207800	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	888	615	12	1	6	20	0.011254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	536.21	72	chr1	240207800	.	C	*	536.21	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-0.523;DP=781;ExcessHet=0.4742;FS=1.678;InbreedingCoeff=0.0077;MLEAC=3;MLEAF=0.115;MQ=51.92;MQRankSum=-0.202;QD=4.83;ReadPosRankSum=1.3;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,9:31:99:.:.:253,0,753:.	11	0	2	6
chr1	240207806	240207806	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1124	331	37	24	6	91	0.113788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	4214.29	58	chr1	240207806	.	C	*	4214.29	.	AC=2;AF=0.091;AN=22;BaseQRankSum=-0.691;DP=689;ExcessHet=0.2912;FS=10.515;InbreedingCoeff=0.113;MLEAC=3;MLEAF=0.136;MQ=50.51;MQRankSum=1.82;QD=15.32;ReadPosRankSum=0.504;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,9:31:99:.:.:253,0,753:.	9	0	2	8
chr1	240207812	240207812	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1181	328	2	3	8	16	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	3024.11	23	chr1	240207812	.	G	*	3024.11	.	AC=1;AF=0.036;AN=28;BaseQRankSum=0.034;DP=568;ExcessHet=0.0032;FS=0.609;InbreedingCoeff=0.4238;MLEAC=1;MLEAF=0.036;MQ=49.03;MQRankSum=-0.018;QD=19.51;ReadPosRankSum=-0.081;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,9:31:99:.:.:253,0,753:.	13	0	1	5
chr1	240207818	240207818	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1172	344	5	0	1	6	0.00721501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	1182.34	21	chr1	240207818	.	A	*	1182.34	.	AC=1;AF=0.038;AN=26;BaseQRankSum=1.47;DP=546;ExcessHet=0.5115;FS=2.74;InbreedingCoeff=-0.0827;MLEAC=1;MLEAF=0.038;MQ=46.34;MQRankSum=0;QD=12.58;ReadPosRankSum=0.216;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,9:31:99:.:.:253,0,753:.	12	0	1	6
chr1	240207821	240207821	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1088	429	4	0	1	5	0.00464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	916.56	21	chr1	240207821	.	T	*	916.56	.	AC=1;AF=0.038;AN=26;BaseQRankSum=1.6;DP=536;ExcessHet=0.442;FS=0.899;InbreedingCoeff=-0.0828;MLEAC=1;MLEAF=0.038;MQ=47.29;MQRankSum=-0.475;QD=11.32;ReadPosRankSum=-0.195;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,9:31:99:.:.:253,0,753:.	12	0	1	6
chr1	241517198	241517198	A	G	exonic	FH	.	nonsynonymous SNV	FH:NM_000143:exon2:c.T251C:p.V84A	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	0	225	1	0	0	1	0.00221729	.	.	.	238263	Fumarase_deficiency|Hereditary_leiomyomatosis_and_renal_cell_cancer|Hereditary_cancer-predisposing_syndrome|not_provided	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.283	0.0733373669082	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878853692	2.052e-06	2.052e-06	2.722e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.485	0.08115	T	0.598	0.07999	T	0.0	0.02946	B	0.002	0.06944	B	0.042059	0.23883	N	0.482695	0.999999	0.08975	N	0.59	0.15444	N	-5.74	0.99311	D	0.54	0.02764	N	0.07	0.04307	0.530	0.90966	D	0.887	0.96238	D	10	0.12784043	0.24315	T	0.073337	0.71764	D	0.283	0.60100	0.476	0.55342	0.88920406152	0.88811	0.48421379497953804	0.48341	0.339991267064	0.35944	0.357620030642	0.19039	T	0.648748	0.89315	D	0.0261652	0.55212	T	-0.200192	0.54628	T	0.156152829527855	0.17583	T	0.810419	0.46176	T	0.087276205	0.20318	0.06351968	0.12595	0.087276205	0.20317	0.06351968	0.12595	-3.569	0.17410	T	.	.	0.084	0.09723	B	.	.	1.266504	0.16649	12.67	0.96026289301423606	0.28488	0.05111	0.10914	N	AEFBI	0.140688	0.26265	N	-0.687610804125656	0.16374	0.8336489	-0.608945177679305	0.19263	1.032736	0.999844600349635	0.43971	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.651492	0.60203	0	.	.	5.75	2.23	0.27189	0.695000	0.25205	1.027000	0.23450	0.756000	0.94297	0.002000	0.15269	0.000000	0.08366	0.992000	0.67800	0.754:0.0:0.246:0.0	7.997	0.29434	952	0.10565	Fumarate lyase, 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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1360.33	34	chr1	241517198	.	A	G	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.704;DP=763;ExcessHet=0;FS=0.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=0.226;SOR=0.623	GT:AD:DP:GQ:PL	0/1:79,63:142:99:1374,0,2167	18	0	1	0
chr1	243330649	243330649	T	C	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.T884C:p.M295T,SDCCAG8:NM_006642:exon10:c.T1178C:p.M393T,SDCCAG8:NM_001350247:exon11:c.T275C:p.M92T,SDCCAG8:NM_001350248:exon11:c.T1274C:p.M425T,SDCCAG8:NM_001350246:exon12:c.T275C:p.M92T,SDCCAG8:NM_001350251:exon13:c.T275C:p.M92T	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0097323393981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.25768	T	0.033	0.53072	D	0.288	0.32258	B	0.142	0.33681	B	0.014502	0.28512	N	0.453510	0.991261	0.24058	N	2.35	0.67516	M	0.96	0.42888	T	-1.36	0.39119	N	0.326	0.36674	-1.0039	0.28785	T	0.097	0.36393	T	10	0.17887664	0.32995	T	0.009732	0.25404	T	0.074	0.21613	0.189	0.09907	0.483448007585	0.47975	0.09831529846527605	0.09762	0.077331380461	0.08693	0.505008280277	0.39526	T	0.01979	0.21521	T	-0.0887363	0.38287	T	-0.36524	0.37444	T	0.598834455013275	0.36354	D	0.759724	0.38410	T	0.19019835	0.40594	0.10757766	0.25900	0.19019835	0.40594	0.10757766	0.25899	-6.297	0.48698	T	0.14363118300184172	0.16344	0.331	0.55320	B	.;.	.;.	2.324314	0.29769	18.23	0.95285732624943364	0.26586	0.92014	0.54755	D	AEFBI	0.442092	0.49996	N	-0.0401053196164673	0.40046	2.371564	0.107935306068944	0.44954	2.767287	0.989291218126179	0.31780	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	4.591000	0.60729	3.506000	0.38809	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	12.493	0.55251	590	0.68897	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	385.43	34	chr1	243330649	.	T	C	385.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.858;DP=1567;ExcessHet=0.7564;FS=118.041;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=1.5;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:177,35:212:97:.:.:97,0,4123:.	15	0	4	0
chr1	247841403	247841403	C	G	exonic	OR11L1	.	nonsynonymous SNV	OR11L1:NM_001001959:exon1:c.G494C:p.R165T	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0017824710136	.	0.000798722	0.0002	0	0	0	0	9.001e-05	0	0.0009	0.0001617	25	154602	rs201189703	9.03e-05	9.029e-05	5.309e-05	0.0001	0.0013	7.756e-05	7.299e-05	0.0011	0.0010	0	2.236e-05	0	2.519e-05	0	0.0009	7.194e-06	0.0001	0.0013	3.94e-05	3.937e-05	3.855e-05	4.028e-05	0.0008	1.714e-05	1.129e-05	0.0003	0.0002	0	0	0	0	0	0	0	2.94e-05	0	0.0008	0.025	0.47320	D	0.152	0.32249	T	0.049	0.22227	B	0.082	0.29098	B	0.176189	0.17231	U	0.418227	1	0.08975	N	1.71	0.44315	L	8.65	0.00144	T	-2.42	0.53096	N	0.095	0.07535	-1.0313	0.20034	T	0.000	0.00152	T	10	0.013434321	0.00285	T	0.001782	0.03037	T	0.021	0.04004	.	.	0.112648838833	0.10856	0.18785142474984848	0.18703	0.034493369384	0.03626	0.184537827969	0.00143	T	0.018451	0.14872	T	-0.647716	0.00075	T	-0.748727	0.03535	T	0.0336920105892148	0.02586	T	0.0424957	0.00299	T	0.095345825	0.22436	0.09568301	0.22703	0.095345825	0.22436	0.09568301	0.22702	-5.439	0.41293	T	.	.	0.138	0.30184	B	.	.	1.255665	0.16531	12.60	0.92155707748547022	0.21517	0.01603	0.05200	N	AEFBI	0.024580	0.01544	N	-1.01841780743864	0.08222	0.3847296	-1.02952284396511	0.09139	0.4530495	2.40597419801829E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.42	1.7	0.23359	-2.745000	0.00866	.	.	-1.184000	0.01383	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1014:0.2848:0.6137	6.112	0.19329	964	0.07719	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1500.33	138	chr1	247841403	.	C	G	1500.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.388;DP=2325;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.298;SOR=0.68	GT:AD:DP:GQ:PL	0/1:72,61:133:99:1514,0,1932	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	4591.79	177	chr1	248441544	.	G	A	4591.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.76;DP=2380;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=46.1;MQRankSum=7.76;QD=11.37;ReadPosRankSum=2.85;SOR=0.699	GT:AD:DP:GQ:PL	0/1:49,52:101:99:1396,0,1486	16	0	3	0
chr2	5693753	5693764	CAGCAGCAGCGG	-	exonic	SOX11	.	nonframeshift deletion	SOX11:NM_003108:exon1:c.1032_1043del:p.S351_S354del	Mental retardation, autosomal dominant, 27, Autosomal dominant	399	1119	3	0	1	4	0.00133869	.	.	.	363893	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0038	.	0.0004	0.0004	0.0005	0	0	8.506e-05	0.0031	0.0011	0.0002264	35	154602	rs755419138	0.0003	0.0003	0.0003	0.0004	0.0065	0.0003	0.0003	0.0048	0.0042	0.0006	0.0010	0	0.0001	4.317e-05	0.0065	0.0002	0.0004	0.0009	0.0006	0.0006	0.0005	0.0006	0.0011	0.0005	0.0004	0.0008	0.0007	0.0011	0	0.0008	0	0.0002	0	0.0102	0.0003	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1635.29	38	chr2	5693752	.	CCAGCAGCAGCGG	C	1635.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=772;ExcessHet=0;FS=1.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=2.23;SOR=0.91	GT:AD:DP:GQ:PL	0/1:58,44:102:99:1649,0,2300	18	0	1	0
chr2	20641041	20641041	T	C	exonic	HS1BP3	.	nonsynonymous SNV	HS1BP3:NM_022460:exon3:c.A338G:p.N113S	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0163655321103	.	0.00179712	0.0013	0	0.0003	0.0001	0	2.998e-05	0.0011	0.0090	0.001119	173	154602	rs376248399	0.0006	0.0006	0.0004	0.0008	0.0092	0.0006	0.0005	0.0087	0.0085	0	2.236e-05	0	0.0001	0	0.0009	2.158e-05	0.0007	0.0092	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	0	0	0	0	0	0	0	1.47e-05	0	0.0114	0.063	0.36709	T	0.031	0.53788	D	0.011	0.15914	B	0.013	0.16460	B	0.179480	0.17143	N	0.561406	0.937854	0.26879	N	1.525	0.38595	L	-0.41	0.69413	T	-1.68	0.40850	N	0.249	0.30233	-0.8618	0.51133	T	0.208	0.56730	T	10	0.0049257874	0.00105	T	0.016366	0.37594	T	0.104	0.29647	0.477	0.55502	0.534431409017	0.53093	0.34571434252963934	0.34485	0.108227509967	0.12199	0.284507215023	0.08129	T	0.015085	0.12720	T	-0.448513	0.01153	T	-0.41092	0.32118	T	0.0480455143978828	0.05151	T	0.757724	0.38671	T	0.06723699	0.14542	0.10541231	0.25339	0.06723699	0.14541	0.10541231	0.25338	-8.892	0.66999	D	.	.	0.069	0.07272	B	.;.;.	.;.;.	2.224152	0.28387	17.78	0.98948413151015258	0.49093	0.89530	0.50053	D	AEFDGBI	0.534765	0.55367	D	-0.300508162559785	0.29129	1.612671	-0.206665182128255	0.31296	1.769829	0.999999778388873	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.65	3.5	0.39181	3.935000	0.56272	1.110000	0.24149	0.660000	0.55035	0.999000	0.42656	0.002000	0.18203	0.998000	0.85391	0.0:0.0813:0.0:0.9187	9.861	0.40285	850	0.35610	Phox homologous domain|Phox homologous domain|Phox homologous domain|HCLS1-binding protein 3, PX domain;Phox homologous domain|Phox homologous domain|Phox homologous domain|HCLS1-binding protein 3, PX domain;Phox homologous domain|Phox homologous domain|Phox homologous domain|HCLS1-binding protein 3, PX domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	2971.33	33	chr2	20641041	.	T	C	2971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.439;DP=825;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-0.255;SOR=0.665	GT:AD:DP:GQ:PL	0/1:86,113:199:99:2985,0,2206	18	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1906.46	28	chr2	23864893	.	T	C	1906.46	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.108;DP=1231;ExcessHet=31.086;FS=215.109;InbreedingCoeff=-0.7907;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.27;SOR=11.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,22:76:95:.:.:95,0,785:.	2	0	17	0
chr2	24208254	24208254	C	T	exonic	ITSN2	.	nonsynonymous SNV	ITSN2:NM_001348182:exon36:c.G4541A:p.R1514H,ITSN2:NM_019595:exon36:c.G4580A:p.R1527H,ITSN2:NM_006277:exon37:c.G4661A:p.R1554H,ITSN2:NM_001348181:exon38:c.G4619A:p.R1540H	.	417	1095	10	0	0	10	0.00454545	.	.	.	1165615	ITSN2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.071	.	0.0010	0.000599042	0.0020	9.615e-05	0.0008	0	0.0147	0.0018	0.0077	0.0008	0.0017982	278	154602	rs138517130	0.0019	0.0020	0.0020	0.0019	0.0156	0.0019	0.0019	0.0130	0.0120	0.0005	0.0010	0.0033	2.519e-05	0.0103	0.0156	0.0017	0.0022	0.0010	0.0025	0.0025	0.0017	0.0033	0.0024	0.0023	0.0022	0.0017	0.0015	0.0005	0	0.0024	0.0049	0.0002	0.0162	0	0.0018	0.0033	0.0015	0.05	0.39575	D	0.084	0.41405	T	0.002	0.09854	B	0.001	0.04355	B	0.005524	0.32720	U	0.000000	0.999997	0.08975	N	1.5	0.37844	L	0.97	0.42502	T	-3.29	0.65742	D	0.603	0.62103	-1.0051	0.28427	T	0.095	0.35765	T	10	0.009541094	0.00215	T	.	.	.	0.071	0.20720	.	.	0.753968970322	0.75174	0.3083661816113559	0.30749	0.186891718728	0.21002	0.737879574299	0.72661	T	0.252039	0.62237	T	-0.483926	0.00702	T	-0.473761	0.25112	T	0.0309126970982234	0.02132	T	0.914708	0.69569	D	0.07003572	0.15394	0.08262036	0.18871	0.066003405	0.14161	0.09696683	0.23060	-10.449	0.76554	D	.	.	0.142	0.33913	B	.;.;.	.;.;.	3.683456	0.52444	23.2	0.98070557864533081	0.38023	0.88120	0.47910	D	AEFDBI	0.385136	0.46599	N	-0.299485031402841	0.29169	1.615165	-0.240841141202732	0.30088	1.691124	0.495726757522484	0.20901	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.75	4.75	0.59954	4.532000	0.60321	5.891000	0.50761	0.577000	0.29297	0.982000	0.35529	1.000000	0.68203	0.171000	0.21011	0.0:0.9188:0.0:0.0812	12.591	0.55793	309	0.87553	.;Pleckstrin homology domain;Pleckstrin homology 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	0	0	1	0	0.008056	0.005051	0.010870	0.017544	0.000000	0.017241	0.000000	0.000000	0.02632	489.33	36	chr2	24208254	.	C	T	489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=701;ExcessHet=0;FS=2.01;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.69;ReadPosRankSum=0.419;SOR=1.014	GT:AD:DP:GQ:PL	0/1:62,24:86:99:503,0,1551	18	0	1	0
chr2	25743113	25743113	C	T	exonic	ASXL2	.	nonsynonymous SNV	ASXL2:NM_001369347:exon10:c.G2444A:p.R815Q,ASXL2:NM_001369346:exon11:c.G3050A:p.R1017Q,ASXL2:NM_018263:exon12:c.G3224A:p.R1075Q	Shashi-Pena syndrome, Autosomal dominant	432	1072	18	0	0	18	0.00832562	.	.	.	697503	not_provided|ASXL2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.091	.	0.0092	0.00459265	0.0080	0.0018	0.0041	0	0.0174	0.0112	0.0100	0.0016	0.0076842	1188	154602	rs62130126	0.0090	0.0090	0.0091	0.0089	0.0199	0.0089	0.0088	0.0170	0.0159	0.0017	0.0052	0.0108	2.519e-05	0.0189	0.0199	0.0098	0.0080	0.0016	0.0078	0.0078	0.0080	0.0077	0.0108	0.0075	0.0073	0.0101	0.0099	0.0023	0	0.0069	0.0098	0	0.0179	0.0238	0.0108	0.0099	0.0017	0.972	0.02043	T	0.753	0.06406	T	0.006	0.13644	B	0.002	0.06944	B	0.968051	0.07760	N	1.012670	0.999988	0.54805	D	-0.05	0.04954	N	2.1	0.19990	T	1.06	0.01297	N	0.077	0.06720	-1.0533	0.13493	T	0.018	0.07612	T	10	0.0018387139	0.00025	T	.	.	.	0.091	0.26358	.	.	0.082315109003	0.07666	.	.	0.145901866807	0.16476	0.198306113482	0.00409	T	0.042332	0.26149	T	-0.687064	0.00044	T	-0.747372	0.03589	T	0.00338038428782324	0.00036	T	0.864814	0.56255	D	0.038849235	0.05253	0.048413184	0.07187	0.041290246	0.06053	0.048413184	0.07186	0.627	0.00188	T	0.028397443381650293	0.00057	0.061	0.01271	B	.;.	.;.	0.421366	0.07922	4.626	0.39494268257848325	0.02728	0.09773	0.15453	N	AEFBCI	0.041773	0.06394	N	-0.885517272670445	0.11186	0.5384858	-0.821209947374644	0.13982	0.7282311	0.995626004743273	0.34230	0.722319	0.85440	0	0.71359	0.82159	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	6.07	-2.54	0.05941	0.271000	0.18390	-1.015000	0.06600	0.599000	0.40250	0.051000	0.21449	0.000000	0.08366	0.985000	0.61073	0.0:0.1829:0.0:0.8171	13.163	0.58975	704	0.57414	.;.	.	.	.	.	rs62130126	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.017120	0.020202	0.008152	0.032164	0.000000	0.034483	0.021341	0.011364	0.02632	2319.33	38	chr2	25743113	.	C	T	2319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=831;ExcessHet=0;FS=1.151;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=1.47;SOR=0.603	GT:AD:DP:GQ:PL	0/1:97,84:181:99:2333,0,2453	18	0	1	0
chr2	26575998	26575998	G	A	exonic	FAM166C	.	nonsynonymous SNV	FAM166C:NM_001105519:exon2:c.G171A:p.M57I,FAM166C:NM_001322426:exon3:c.G133A:p.G45R	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00612818255689	.	0.00159744	0.0014	0.0001	0	0	0	0	0	0.0099	0.0011837	183	154602	rs531808422	0.0007	0.0007	0.0004	0.0011	0.0117	0.0007	0.0007	0.0111	0.0108	2.987e-05	2.236e-05	0	5.038e-05	0	0.0003	5.396e-06	0.0006	0.0117	0.0005	0.0005	0.0003	0.0007	0.0139	0.0004	0.0004	0.0112	0.0103	7.224e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0139	0.076	0.34269	T	0.026	0.55759	D	0.072	0.23997	B	0.025	0.20508	B	0.002701	0.36102	N	0.193091	0.532181	0.31984	D	1.39	0.34934	L	1.14	0.38397	T	-0.61	0.18042	N	0.269	0.30461	-1.0338	0.19236	T	0.059	0.24797	T	10	0.005289644	0.00116	T	0.006128	0.16052	T	0.061	0.17616	0.474	0.55020	0.0666544352282	0.05500	0.41319157136674733	0.41235	0.304405072356	0.32745	.	.	.	0.004903	0.04322	T	-0.456245	0.01037	T	-0.418746	0.31219	T	0.0377240691320544	0.03283	T	0.548745	0.18852	T	0.25687182	0.48729	0.19419622	0.43030	0.25687182	0.48729	0.19419622	0.43029	-2.896	0.09103	T	.	.	0.44	0.61705	A	.	.	2.763066	0.36248	20.2	0.83274738694392092	0.14636	0.85910	0.45099	D	AEFGBI	0.498110	0.53235	N	-0.285561952880713	0.29705	1.649709	-0.143800862243734	0.33648	1.926935	0.999998020571832	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.59	4.59	0.56297	4.150000	0.57871	2.384000	0.32503	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.213000	0.22268	0.0:0.0:1.0:0.0	14.880	0.70166	411	0.82069	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	3668.33	35	chr2	26575998	.	G	A	3668.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.12;DP=923;ExcessHet=0;FS=3.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.114;SOR=0.856	GT:AD:DP:GQ:PL	0/1:133,146:279:99:3682,0,3293	18	0	1	0
chr2	27367149	27367149	A	G	exonic	EIF2B4	.	nonsynonymous SNV	EIF2B4:NM_001318965:exon9:c.T1001C:p.V334A,EIF2B4:NM_001318968:exon9:c.T353C:p.V118A,EIF2B4:NM_172195:exon9:c.T998C:p.V333A,EIF2B4:NM_001034116:exon10:c.T938C:p.V313A,EIF2B4:NM_001318966:exon10:c.T893C:p.V298A,EIF2B4:NM_001318967:exon10:c.T845C:p.V282A,EIF2B4:NM_001318969:exon10:c.T320C:p.V107A,EIF2B4:NM_015636:exon10:c.T935C:p.V312A	Leukoencephaly with vanishing white matter, Autosomal recessive;Ovarioleukodystrophy, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	289220	Vanishing_white_matter_disease|not_provided|EIF2B4-related_disorder	MONDO:MONDO:0800448,MedGen:C1858991,OMIM:PS603896,Orphanet:135,Orphanet:99853|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.370	.	.	0.00199681	0.0008	0	0	0	0	0	0	0.0056	0.0006598	102	154602	rs560532019	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0044	2.987e-05	4.472e-05	0	0	0	0	2.698e-06	0.0004	0.0050	0.0002	0.0002	0.0001	0.0003	0.0075	0.0002	0.0002	0.0055	0.0049	0	0	0	0	0	0	0	0	0	0.0075	0.431	0.11586	T	0.517	0.10572	T	0.265	0.38873	B	0.27	0.39872	B	0.000710	0.42254	D	0.269301	0.980759	0.39700	D	1.905	0.50856	L	-3.04	0.92357	D	-0.69	0.19720	N	0.511	0.57433	0.011	0.82481	D	0.606	0.86017	D	10	0.011464447	0.00250	T	.	.	.	0.370	0.68930	0.497	0.58678	0.741731055263	0.73941	0.48377320450291894	0.48297	0.633817887609	0.57261	0.544209122658	0.45041	T	0.01534	0.72112	T	-0.243965	0.14848	T	-0.121435	0.61684	T	0.0624087041803861	0.07544	T	0.90211	0.67171	D	0.13021007	0.30389	0.09359876	0.22115	0.14524856	0.33302	0.105081506	0.25253	-7.0	0.54861	T	.	.	0.137	0.30076	B	.;.;.;.;.	.;.;.;.;.	2.534848	0.32776	19.14	0.97463784547781829	0.34095	0.51345	0.28874	D	AEFDBCI	0.357052	0.44822	N	-0.220124214724505	0.32309	1.820692	-0.12209111479716	0.34501	1.985261	0.999978952649258	0.50053	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.97	4.76	0.60189	1.985000	0.40289	6.808000	0.56642	0.756000	0.94297	0.006000	0.17386	1.000000	0.68203	0.993000	0.69303	0.8619:0.0:0.0:0.1381	11.135	0.47594	321	0.86949	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2882.33	42	chr2	27367149	.	A	G	2882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.497;DP=1020;ExcessHet=0;FS=4.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.664;SOR=0.983	GT:AD:DP:GQ:PL	0/1:105,114:219:99:2896,0,2707	18	0	1	0
chr2	28529315	28529342	AGTCCTTTCAGACATCATCAGATATTTC	-	exonic	PLB1	.	frameshift deletion	PLB1:NM_001170585:exon7:c.326_351del:p.V109Efs*22,PLB1:NM_153021:exon7:c.326_351del:p.V109Efs*22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1513.29	36	chr2	28529314	.	TAGTCCTTTCAGACATCATCAGATATTTC	T	1513.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.85;DP=735;ExcessHet=0;FS=4.347;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17;ReadPosRankSum=1.75;SOR=1.281	GT:AD:DP:GQ:PL	0/1:49,40:89:99:1527,0,1912	18	0	1	0
chr2	29017265	29017265	T	C	exonic	TOGARAM2	.	nonsynonymous SNV	TOGARAM2:NM_001321538:exon9:c.T1156C:p.S386P,TOGARAM2:NM_199280:exon9:c.T1156C:p.S386P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	0.00938498	0.0026	0.0307	0.0012	0	0	0	0.0011	0	0.0023997	371	154602	rs201148338	0.0010	0.0010	0.0012	0.0008	0.0358	0.0009	0.0009	0.0342	0.0335	0.0358	0.0017	0	0	0	0.0009	2.339e-05	0.0023	3.484e-05	0.0098	0.0098	0.0102	0.0094	0.0334	0.0094	0.0092	0.0320	0.0314	0.0334	0	0.0048	0	0	0	0	8.822e-05	0.0109	0	0.26	0.16574	T	0.282	0.21545	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.01	0.09075	T	0.35	0.03761	N	0.038	0.01203	-0.9555	0.40006	T	0.014	0.05561	T	9	0.0032925904	0.00057	T	.	.	.	0.008	0.00669	.	.	0.0401082797425	0.02173	0.3203487305158109	0.31947	0.0670786012736	0.07489	0.294274538755	0.09550	T	0.006728	0.06159	T	-0.778689	0.00011	T	-0.866242	0.00779	T	0.00287747374797927	0.00030	T	0.214779	0.02659	T	0.04315	0.06672	0.07657329	0.16973	0.04315	0.06672	0.07657329	0.16973	-3.327	0.14087	T	.	.	0.062	0.01252	B	.	.	-0.429037	0.02106	0.198	0.92959677842238586	0.22534	0.02140	0.06305	N	AEFDBI	0.097137	0.19598	N	-1.3280665000454	0.03358	0.1498553	-1.37236277541218	0.03549	0.1657872	0.151537063039798	0.17448	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.84	-2.12	0.06766	-0.917000	0.04134	-1.033000	0.06541	-0.251000	0.07141	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1068:0.2149:0.118:0.5603	2.659	0.04716	443	0.79878	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1527.33	41	chr2	29017265	.	T	C	1527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.43;DP=793;ExcessHet=0;FS=3.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=-1.184;SOR=0.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,42:92:99:0|1:29017265_T_C:1541,0,1968:29017265	18	0	1	0
chr2	31335978	31335978	G	T	exonic	XDH	.	nonsynonymous SNV	XDH:NM_000379:exon36:c.C3982A:p.P1328T	Xanthinuria, type I, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.0484901587843	.	0.000199681	9.884e-05	0	0	0.0001	0	0	0	0.0007	8.41e-05	13	154602	rs531030273	2.805e-05	2.805e-05	1.361e-05	4.263e-05	0.0003	2.086e-05	1.878e-05	0.0002	0.0002	0	0	0	0.0002	0	0.0002	2.698e-06	1.656e-05	0.0003	5.252e-05	5.249e-05	2.569e-05	8.056e-05	0.0015	2.555e-05	1.829e-05	0.0007	0.0005	0	0	0	0	0.0002	0	0	0	0	0.0015	0.003	0.68238	D	0.003	0.76473	D	0.865	0.47557	P	0.415	0.44933	B	0.000024	0.55875	D	0.159479	0.999841	0.49770	D	3	0.85872	M	-0.22	0.66474	T	-4.6	0.78976	D	0.392	0.43320	-0.7017	0.60357	T	0.254	0.62428	T	10	0.12646681	0.24042	T	0.04849	0.63394	D	0.230	0.53062	0.621	0.75576	0.761395745623	0.75922	0.6584998832078567	0.65786	0.119754001604	0.13491	0.353624880314	0.18454	T	0.289487	0.66228	T	-0.231751	0.16419	T	-0.234411	0.51343	T	0.80408763885498	0.46633	D	0.89771	0.64209	D	0.5117594	0.67782	0.19271474	0.42801	0.5117594	0.67783	0.19271474	0.42800	-6.438	0.49806	T	.	.	0.110	0.21087	B	.	.	2.894110	0.38337	20.7	0.99090734445505779	0.52198	0.90053	0.50934	D	AEFDGBIJ	0.330318	0.43039	N	0.166592507286959	0.49601	3.158608	0.117570267166431	0.45448	2.80776	0.999997637763197	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.64	2.84	0.32241	3.620000	0.53944	3.229000	0.36897	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.1809:0.1647:0.6544:0.0	5.469	0.15955	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1661.33	41	chr2	31335978	.	G	T	1661.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.523;DP=776;ExcessHet=0;FS=3.045;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.848;SOR=0.999	GT:AD:DP:GQ:PL	0/1:73,66:139:99:1675,0,1917	18	0	1	0
chr2	42767595	42767595	G	A	exonic	HAAO	.	nonsynonymous SNV	HAAO:NM_012205:exon9:c.C782T:p.S261L	.	409	1107	6	0	0	6	0.0027027	0.0014	0.048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.000599042	0.0015	0	0.0006	0.0005	0	0.0008	0.0035	0.0043	0.0005563	86	154602	rs534302281	0.0005	0.0005	0.0004	0.0007	0.0035	0.0005	0.0005	0.0032	0.0030	0.0001	0.0004	0.0006	0.0002	1.961e-05	0.0030	0.0003	0.0008	0.0035	0.0003	0.0003	0.0002	0.0004	0.0017	0.0002	0.0002	0.0008	0.0006	2.405e-05	0	0.0003	0	0.0004	0	0.0034	0.0004	0	0.0017	0.324	0.13392	T	0.304	0.20100	T	0.001	0.07471	B	0.0	0.01387	B	0.199162	0.03307	N	1.574650	0.999997	0.08975	N	0.93	0.23535	L	1.62	0.28189	T	-1.13	0.29114	N	0.145	0.14622	-1.0467	0.15332	T	0.036	0.15640	T	9	0.0066372156	0.00150	T	.	.	.	0.030	0.07022	.	.	0.406394481233	0.40250	0.2559838105515484	0.25512	0.0531030045541	0.05856	0.4195548594	0.27775	T	0.003949	0.03363	T	-0.608041	0.00130	T	-0.649236	0.09007	T	0.0083693863811171	0.00101	T	0.492651	0.15191	T	0.12217173	0.28715	0.08638086	0.20010	0.13329817	0.31009	0.098226376	0.23410	-4.779	0.34345	T	.	.	0.081	0.08224	B	.	.	1.678634	0.21398	15.18	0.95378440945246834	0.26800	0.05083	0.10879	N	AEFDBCI	0.245470	0.36640	N	-0.908894475437126	0.10633	0.5090536	-0.88252366091611	0.12508	0.6438087	0.950587112832461	0.27903	0.67177	0.52595	0	0.702456	0.74545	0	0.644132	0.48003	0	0.567892	0.33627	0	.	.	4.71	-0.0748	0.13062	0.221000	0.17463	0.290000	0.16862	0.674000	0.70861	0.124000	0.23245	0.004000	0.18990	0.928000	0.46473	0.4058:0.0:0.3555:0.2388	2.655	0.04704	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.003036	0.000000	0.004076	0.000000	0.000000	0.000000	0.003086	0.007576	0.02632	1123.33	41	chr2	42767595	.	G	A	1123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=748;ExcessHet=0;FS=4.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.451;SOR=1.156	GT:AD:DP:GQ:PL	0/1:57,46:103:99:1137,0,1342	18	0	1	0
chr2	43925942	43925942	C	T	exonic	LRPPRC	.	nonsynonymous SNV	LRPPRC:NM_133259:exon26:c.G2756A:p.R919Q	Leigh syndrome, French-Canadian type, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	1910402	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.217	0.0457544903383	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs762844474	6.173e-06	6.157e-06	4.096e-06	8.269e-06	1.16e-05	2.9e-06	2.1e-06	2.63e-06	1.69e-06	0	0	0	0	0	0	6.315e-06	1.66e-05	1.16e-05	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.024	0.47745	D	0.029	0.54541	D	1.0	0.90584	D	0.926	0.66095	D	0.000140	0.49741	D	0.128526	0.994601	0.42345	D	2.84	0.82582	M	1.79	0.25509	T	-2.67	0.57110	D	0.221	0.24758	-0.8541	0.51682	T	0.165	0.50225	T	10	0.36892486	0.53321	T	0.045754	0.62133	D	0.217	0.51112	0.636	0.77251	0.41883969893	0.41498	0.3929304136132955	0.39208	0.14486258664	0.16365	0.333058297634	0.15395	T	0.259532	0.63081	T	-0.10571	0.35479	T	-0.374135	0.36405	T	0.949603140354156	0.63151	D	0.934007	0.75281	D	0.16064732	0.36020	0.13204455	0.31695	0.16064732	0.36020	0.13204455	0.31695	-7.337	0.56458	T	0.4935313871032672	0.56998	0.128	0.27222	B	.	.	4.343217	0.66645	25.0	0.99939263358362851	0.99734	0.89833	0.50558	D	AEFDBI	0.274362	0.38956	N	0.604488432202182	0.73457	5.969359	0.535803736116001	0.70418	5.501995	0.999970332728702	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.59	5.59	0.84677	2.371000	0.43902	7.709000	0.66702	0.549000	0.26987	0.967000	0.34061	1.000000	0.68203	0.656000	0.32857	0.0:0.9258:0.0:0.0741	14.190	0.65170	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	639.33	33	chr2	43925942	.	C	T	639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=716;ExcessHet=0;FS=0.892;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=-0.467;SOR=0.569	GT:AD:DP:GQ:PL	0/1:55,28:83:99:653,0,1268	18	0	1	0
chr2	48580986	48580986	G	T	exonic	STON1;STON1-GTF2A1L	.	nonsynonymous SNV	STON1-GTF2A1L:NM_001198594:exon1:c.G353T:p.G118V,STON1-GTF2A1L:NM_001198593:exon2:c.G353T:p.G118V,STON1:NM_006873:exon2:c.G353T:p.G118V,STON1-GTF2A1L:NM_172311:exon2:c.G353T:p.G118V,STON1:NM_001198595:exon3:c.G353T:p.G118V	.	432	1026	62	2	0	66	0.0311615	.	.	.	733507	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.030	.	0.0026	0.00778754	0.0054	0.0013	0.0018	0.0001	0.0003	0.0040	0.0037	0.0300	0.0054851	848	154602	rs72824125	0.0049	0.0050	0.0044	0.0055	0.0274	0.0048	0.0048	0.0265	0.0261	0.0008	0.0021	0.0022	7.622e-05	0.0006	0.0149	0.0039	0.0057	0.0274	0.0040	0.0040	0.0036	0.0044	0.0297	0.0037	0.0036	0.0257	0.0242	0.0009	0	0.0058	0.0040	0	0.0003	0.0034	0.0044	0.0104	0.0297	0.002	0.78490	D	0.019	0.62352	D	0.679	0.50421	P	0.186	0.50118	B	0.073959	0.21314	N	0.440845	0.999999	0.08975	N	2.555	0.74557	M	2.67	0.12988	T	-2.11	0.48020	N	0.281	0.31925	-1.1121	0.02895	T	0.051	0.21806	T	10	0.004071653	0.00080	T	.	.	.	0.030	0.07022	.	.	0.461583377977	0.45782	0.30531859660048793	0.32329	0.00635658170257	0.00556	0.266003608704	0.05627	T	0.074824	0.35030	T	-0.530244	0.00383	T	-0.513485	0.20957	T	0.0225075360226289	0.00965	T	0.720328	0.33319	T	0.057194978	0.11353	0.089182906	0.20839	0.057194978	0.11352	0.089182906	0.20839	-2.982	0.09988	T	0.335890859238464	0.43380	0.098	0.26978	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.091475	0.04949	1.519	0.98612776587068196	0.43664	0.28104	0.23462	N	AEFBI	0.125934	0.24266	N	-0.309415810970022	0.28789	1.590911	-0.495834929041824	0.22269	1.20867	0.00737552665866971	0.11451	0.706548	0.73137	0	0.610034	0.51514	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.81	1.94	0.25058	0.279000	0.18532	0.831000	0.21948	0.665000	0.62972	0.005000	0.17040	0.853000	0.27411	0.112000	0.18829	0.0748:0.2703:0.655:0.0	9.474	0.38027	527	0.73864	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.020725	0.005051	0.025815	0.020979	0.100000	0.034483	0.006098	0.030303	0.05263	6276.83	34	chr2	48580986	.	G	T	6276.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.492;DP=2064;ExcessHet=0.119;FS=5.02;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.193;SOR=1.071	GT:AD:DP:GQ:PL	0/1:142,115:257:99:2940,0,3830	17	0	2	0
chr2	55237312	55237312	G	A	exonic	MTIF2	.	nonsynonymous SNV	MTIF2:NM_001321004:exon14:c.C1987T:p.R663C,MTIF2:NM_001321005:exon14:c.C1258T:p.R420C,MTIF2:NM_001321001:exon15:c.C1987T:p.R663C,MTIF2:NM_001321002:exon15:c.C1987T:p.R663C,MTIF2:NM_002453:exon15:c.C1987T:p.R663C,MTIF2:NM_001005369:exon16:c.C1987T:p.R663C,MTIF2:NM_001321003:exon16:c.C1987T:p.R663C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.690	0.131061459549	.	.	8.247e-06	0	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs762071712	8.902e-06	8.893e-06	6.814e-06	1.101e-05	1.163e-05	4.97e-06	3.83e-06	5.76e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.056331	1	0.81001	D	4.65	0.99371	H	-0.46	0.70014	T	-7.48	0.94988	D	0.872	0.86941	0.681	0.92938	D	0.696	0.89503	D	10	0.97442114	0.97153	D	0.131061	0.81328	D	0.690	0.88726	0.797	0.91729	0.93268529992	0.93199	0.7739053659469254	0.77340	0.366090419773	0.38189	0.443796694279	0.31096	T	0.809237	0.95215	D	0.312004	0.83896	D	0.311026	0.88701	D	0.999812185764313	0.99146	D	0.940206	0.77406	D	0.7817508	0.82761	0.7168269	0.83285	0.7817508	0.82763	0.7168269	0.83286	-11.176	0.80615	D	.	.	0.472	0.64799	A	.;.;.	.;.;.	5.239192	0.87955	29.4	0.99909412817299115	0.97949	0.97337	0.74114	D	AEFDBHCI	0.817415	0.73891	D	1.02310621386927	0.96412	14.66287	0.915909083648163	0.96228	14.44859	1.0	0.98316	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.93	5.93	0.95888	6.188000	0.71968	11.778000	0.96035	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	20.328	0.98710	403	0.82567	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	631.33	34	chr2	55237312	.	G	A	631.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.434;DP=676;ExcessHet=0;FS=1.012;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.136;SOR=0.922	GT:AD:DP:GQ:PL	0/1:30,27:57:99:645,0,801	18	0	1	0
chr2	60921972	60921972	A	G	exonic	REL	.	nonsynonymous SNV	REL:NM_001291746:exon10:c.A1201G:p.T401A,REL:NM_002908:exon11:c.A1297G:p.T433A	.	431	1067	24	0	0	24	0.0111214	.	.	.	733528	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.036	.	.	0.00459265	0.0033	0.0003	0.0005	0	0	0.0005	0.0077	0.0211	0.0028201	436	154602	rs140572082	0.0016	0.0016	0.0009	0.0022	0.0208	0.0015	0.0015	0.0200	0.0197	2.987e-05	0.0003	0	2.519e-05	0	0.0061	0.0003	0.0018	0.0208	0.0009	0.0009	0.0006	0.0012	0.0219	0.0008	0.0007	0.0186	0.0173	9.623e-05	0	0.0001	0	0	0	0.0034	0.0004	0.0009	0.0219	0.931	0.02361	T	0.653	0.06666	T	0.0	0.02946	B	0.001	0.04355	B	0.975791	0.08128	N	0.989793	0.999933	0.19853	N	0.72	0.18721	N	1.06	0.40749	T	-0.55	0.23372	N	0.032	0.03956	-0.9844	0.33975	T	0.040	0.17106	T	10	0.0020952523	0.00030	T	.	.	.	0.036	0.09122	.	.	0.280695755116	0.27685	0.33204263853791494	0.33117	0.0243229922235	0.02469	0.292723655701	0.09320	T	0.079147	0.36059	T	-0.672401	0.00053	T	-0.722377	0.04681	T	0.00769686937979461	0.00090	T	0.536146	0.17993	T	0.0357839	0.04279	0.030290687	0.01466	0.0357839	0.04279	0.030290687	0.01466	-3.865	0.21779	T	.	.	0.068	0.02702	B	.;.	.;.	0.207448	0.05916	2.354	0.24107665710983678	0.01050	0.02465	0.06921	N	AEFDGBI	0.016011	0.00335	N	-1.32432753801039	0.03398	0.1517489	-1.2522205290029	0.05098	0.2421176	0.39373419388631	0.20069	0.67177	0.52595	0	0.702456	0.74545	0	0.679469	0.61720	0	0.635551	0.53088	0	.	.	5.4	-3.03	0.05100	-0.361000	0.07664	-0.706000	0.07772	-0.056000	0.16711	0.014000	0.18986	0.000000	0.08366	0.972000	0.54974	0.3146:0.0:0.5438:0.1415	7.564	0.27033	578	0.69858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.004076	0.011696	0.000000	0.000000	0.000000	0.034091	0.1053	7382.43	34	chr2	60921972	.	A	G	7382.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.84;DP=1149;ExcessHet=0.7564;FS=1.738;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.145;SOR=0.625	GT:AD:DP:GQ:PL	0/1:88,57:145:99:1601,0,2502	15	0	4	0
chr2	61842347	61842347	G	A	exonic	FAM161A	.	nonsynonymous SNV	FAM161A:NM_001201543:exon2:c.C197T:p.T66I,FAM161A:NM_032180:exon2:c.C197T:p.T66I	Retinitis pigmentosa 28	2	1463	52	5	0	62	0.0207497	.	.	.	177215	Retinitis_pigmentosa_28|not_specified|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.014	.	0.0046	0.00259585	0.0071	0.0006	0.0059	0.0008	0.0012	0.0085	0.0114	0.0095	0.0031953	494	154602	rs145199539	0.0046	0.0046	0.0043	0.0049	0.0102	0.0045	0.0045	0.0091	0.0089	0.0007	0.0027	0.0112	5.466e-05	0.0004	0.0102	0.0045	0.0061	0.0097	0.0040	0.0040	0.0039	0.0041	0.0101	0.0037	0.0036	0.0079	0.0071	0.0009	0.0011	0.0031	0.0135	0	0.0005	0.0374	0.0058	0.0066	0.0101	0.019	0.50132	D	0.062	0.45318	T	0.011	0.44504	B	0.008	0.37734	B	.	.	.	.	1	0.08975	N	1.39	0.34934	L	2.68	0.24285	T	-2.18	0.49187	N	0.078	0.05287	-1.0619	0.11288	T	0.022	0.09375	T	9	0.0030406117	0.00050	T	.	.	.	0.014	0.01968	.	.	0.363751660372	0.35992	0.14157861444279105	0.14080	0.0714086533322	0.07995	0.338148593903	0.16161	T	0.002975	0.02370	T	-0.530655	0.00381	T	-0.525631	0.19726	T	0.00501362561801803	0.00054	T	0.643236	0.25495	T	0.068116926	0.14811	0.09173052	0.21581	0.07244453	0.16115	0.099932946	0.23875	-3.236	0.12926	T	0.2690281736431292	0.36221	0.118	0.30868	B	.;.	.;.	1.544181	0.19798	14.44	0.98790717046779686	0.46285	0.36536	0.25555	N	AEFBI	0.076526	0.15397	N	-0.372894268626194	0.26438	1.442932	-0.288800390096853	0.28466	1.587427	2.3214731630198E-4	0.06095	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.43	2.64	0.30504	1.342000	0.33524	0.686000	0.20722	0.676000	0.76740	0.076000	0.22236	0.984000	0.30665	0.952000	0.50033	0.2517:0.0:0.5967:0.1516	4.634	0.11902	260	0.89800	.;.	.	.	.	.	.	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	0.008665	0.005102	0.002747	0.000000	0.000000	0.017857	0.031056	0.003817	0.07895	2425.79	67	chr2	61842347	.	G	A	2425.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.545;DP=776;ExcessHet=0.3672;FS=1.17;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.192;SOR=0.582	GT:AD:DP:GQ:PL	0/1:37,28:65:99:736,0,1029	16	0	3	0
chr2	67403239	67403239	G	C	exonic	ETAA1	.	nonsynonymous SNV	ETAA1:NM_019002:exon5:c.G557C:p.S186T	.	512	984	23	3	0	29	0.0145218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0006	0.000599042	0.0025	0	0.0008	0.0001	0.0002	0.0014	0.0077	0.0144	0.0002911	45	154602	rs201056460	0.0016	0.0016	0.0012	0.0019	0.0190	0.0015	0.0015	0.0160	0.0149	0.0003	0.0010	0.0037	5.083e-05	3.882e-05	0.0190	0.0008	0.0025	0.0120	0.0012	0.0012	0.0009	0.0014	0.0085	0.0010	0.0010	0.0064	0.0057	7.228e-05	0	0.0020	0.0040	0	0	0.0102	0.0012	0.0019	0.0085	0.009	0.57480	D	0.035	0.52389	D	0.01	0.15535	B	0.022	0.19653	B	0.005845	0.32460	N	0.352858	0.99806	0.22374	N	1.04	0.26193	L	2.16	0.19166	T	-1.3	0.32590	N	0.061	0.03283	-1.0206	0.23519	T	0.039	0.16763	T	10	0.0032284558	0.00055	T	.	.	.	0.027	0.05988	.	.	0.082315109003	0.07666	0.050468486461131404	0.04989	0.038995642377	0.04153	0.419647246599	0.27787	T	0.022452	0.17305	T	-0.624252	0.00104	T	-0.66151	0.08164	T	0.0128142455102638	0.00218	T	0.514149	0.16548	T	0.10648474	0.25179	0.11903876	0.28733	0.10648474	0.25178	0.11903876	0.28732	-4.154	0.26082	T	.	.	0.085	0.10352	B	.	.	1.547575	0.19836	14.46	0.94698218446344595	0.25348	0.78913	0.39008	D	AEFGBI	0.113732	0.22429	N	-0.428456259082109	0.24476	1.321859	-0.263942683120013	0.29295	1.640143	0.998497796866115	0.37071	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.16	2.16	0.26663	1.707000	0.37507	2.593000	0.33479	-0.046000	0.17342	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.7377:0.0:0.2623:0.0	10.797	0.45668	948	0.11499	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012109	0.005102	0.004076	0.008772	0.000000	0.008772	0.030675	0.026515	0.05263	1365.83	33	chr2	67403239	.	G	C	1365.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.103;DP=721;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=0.01;SOR=0.686	GT:AD:DP:GQ:PL	0/1:45,35:80:99:864,0,1183	17	0	2	0
chr2	68513563	68513563	A	G	exonic	APLF	.	nonsynonymous SNV	APLF:NM_173545:exon5:c.A505G:p.N169D	.	433	1080	9	0	0	9	0.00414938	.	.	.	3289724	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.00327466638672	0.0006	0.000399361	0.0006	0	0.0011	0	0	0.0006	0	0.0009	0.0004916	76	154602	rs145654399	0.0006	0.0006	0.0006	0.0006	0.0068	0.0005	0.0005	0.0051	0.0045	0	0.0009	0.0037	0	3.746e-05	0.0068	0.0005	0.0009	0.0009	0.0006	0.0006	0.0006	0.0006	0.0014	0.0005	0.0005	0.0009	0.0008	9.636e-05	0	0.0014	0.0035	0	0	0.0034	0.0007	0.0014	0.0004	0.836	0.02840	T	0.859	0.03418	T	0.039	0.21116	B	0.014	0.16862	B	0.915975	0.08520	N	0.966138	1	0.08975	N	-0.695	0.01866	N	2.01	0.21291	T	-0.64	0.18670	N	0.1	0.08227	-0.9601	0.39162	T	0.018	0.07234	T	10	0.0062438548	0.00141	T	0.003275	0.07237	T	0.008	0.00669	.	.	0.246773566709	0.24272	0.10513774435908821	0.10443	0.0435277124011	0.04688	0.293653845787	0.09458	T	0.025622	0.19125	T	-0.697356	0.00038	T	-0.824921	0.01356	T	0.00972487050076408	0.00127	T	0.626037	0.24205	T	0.044666413	0.07179	0.040119555	0.04263	0.044666413	0.07179	0.040119555	0.04263	-4.059	0.24683	T	.	.	0.071	0.03736	B	.	.	0.106895	0.05072	1.611	0.62635984920107424	0.07013	0.02997	0.07858	N	AEFBI	0.036514	0.04877	N	-1.75202921020877	0.00673	0.02905452	-1.73852517746109	0.00977	0.04377642	3.20258260461768E-4	0.06498	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	6.17	-5.25	0.02567	-0.552000	0.06110	-0.682000	0.07881	-0.840000	0.02799	0.000000	0.06391	0.000000	0.08366	0.236000	0.22896	0.5816:0.0674:0.1091:0.2419	4.249	0.10136	811	0.42639	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.003788	0.02632	1208.33	33	chr2	68513563	.	A	G	1208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.433;DP=711;ExcessHet=0;FS=0.841;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=-1.605;SOR=0.555	GT:AD:DP:GQ:PL	0/1:38,50:88:99:1222,0,937	18	0	1	0
chr2	70984136	70984136	-	T	exonic	ANKRD53	.	frameshift insertion	ANKRD53:NM_024933:exon6:c.918dupT:p.V307Cfs*163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3356.29	33	chr2	70984136	.	G	GT	3356.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.177;DP=855;ExcessHet=0;FS=0.509;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=0.92;SOR=0.625	GT:AD:DP:GQ:PL	0/1:103,108:211:99:3370,0,3239	18	0	1	0
chr2	73228820	73228820	C	T	exonic	PRADC1	.	nonsynonymous SNV	PRADC1:NM_032319:exon4:c.G421A:p.A141T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0144653327034	.	.	1.69e-05	0.0001	8.804e-05	0	0	0	0	0	1.29e-05	2	154602	rs746635883	1.096e-05	1.163e-05	1.226e-05	9.637e-06	0.0004	6.49e-06	5.25e-06	6.889e-05	2.88e-05	0	4.481e-05	0	0	0	0.0004	8.097e-06	3.319e-05	1.16e-05	2.628e-05	2.627e-05	2.57e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	.	.	2.413e-05	0	6.546e-05	0	0.0002	0	0	1.47e-05	0	0	0.006	0.61437	D	0.043	0.49942	D	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.86	0.49225	L	3.18	0.07478	T	-2.7	0.57599	D	0.923	0.92667	-1.1837	0.00318	T	0.060	0.25018	T	10	0.8142999	0.80683	D	0.014465	0.34608	T	0.192	0.47115	0.598	0.72862	0.483596354421	0.47990	0.7786931001856804	0.77820	0.346408278094	0.36549	0.763937711716	0.76516	T	0.048356	0.27994	T	-0.0093014	0.50363	T	-0.168272	0.57601	T	0.912294983863831	0.56815	D	0.89841	0.64469	D	0.4176021	0.61932	0.3833402	0.63300	0.4176021	0.61932	0.3833402	0.63300	-5.398	0.40900	T	.	.	0.847	0.79595	P	.	.	5.335713	0.89535	30	0.99935601615537961	0.99579	0.95225	0.63902	D	AEFDBCI	0.748205	0.69002	D	0.663448909436576	0.77243	6.637144	0.634121704464854	0.77434	6.678508	0.999999999997304	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.64	4.64	0.57399	6.412000	0.73221	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	16.599	0.84659	592	0.68746	PA domain|PRADC1-like protein, PA 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	0.000506	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2641.33	36	chr2	73228820	.	C	T	2641.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.528;DP=818;ExcessHet=0;FS=1.961;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=0.585;SOR=0.559	GT:AD:DP:GQ:PL	0/1:68,99:167:99:2655,0,1565	18	0	1	0
chr2	79158731	79158731	G	T	exonic	REG3A	.	nonsynonymous SNV	REG3A:NM_138938:exon2:c.C115A:p.R39S,REG3A:NM_002580:exon3:c.C115A:p.R39S,REG3A:NM_138937:exon3:c.C115A:p.R39S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00112225708441	.	.	2.493e-05	0	0	0	0	4.524e-05	0	0	1.94e-05	3	154602	rs141740162	3.437e-06	0.0007	1.366e-06	5.532e-06	3.554e-05	1.01e-06	7.3e-07	9.44e-06	4.62e-06	0	2.28e-05	0	0	0	0	9.017e-07	0	3.554e-05	6.645e-06	0.0009	0	1.361e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.037403	0.24405	N	0.400827	1	0.08975	N	-2.765	0.00026	N	2.64	0.12780	T	3.27	0.00108	N	0.061	0.03502	-0.9351	0.43379	T	0.007	0.02244	T	10	0.08776298	0.15048	T	0.001122	0.01360	T	0.022	0.04323	.	.	0.0401082797425	0.02173	0.23763958079538905	0.23677	0.0547631763429	0.06061	0.20862942934	0.00754	T	0.021425	0.16689	T	-0.398869	0.02355	T	-0.810724	0.01649	T	0.0314632799417354	0.02220	T	0.0610939	0.00444	T	0.24203835	0.47127	0.078462504	0.17576	0.24203835	0.47126	0.078462504	0.17575	-1.334	0.01457	T	.	.	0.132	0.28778	B	.;.;.	.;.;.	0.622617	0.09910	6.670	0.71659157753313818	0.09704	0.00024	0.00244	N	AEFGI	0.042367	0.06565	N	-1.53127221375122	0.01647	0.07204684	-1.40102100368093	0.03242	0.1508413	1.10306997856234E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.83	2.66	0.30672	1.142000	0.31152	-0.207000	0.10889	-0.832000	0.02862	0.480000	0.26800	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.2961:0.7039	7.457	0.26440	956	0.09877	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	84.33	43	chr2	79158731	.	G	T	84.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.45;DP=1240;ExcessHet=0;FS=33.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.26;MQRankSum=-11.21;QD=0.45;ReadPosRankSum=-4.601;SOR=3.456	GT:AD:DP:GQ:PL	0/1:173,16:189:98:98,0,6962	18	0	1	0
chr2	86984811	86984811	A	G	exonic	RGPD1;RGPD2	.	nonsynonymous SNV	RGPD1:NM_001024457:exon19:c.A2615G:p.Y872C,RGPD2:NM_001078170:exon19:c.A2639G:p.Y880C,RGPD1:NM_001382344:exon19:c.A2639G:p.Y880C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.0148094463921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.434e-06	6.986e-06	2.506e-06	2.366e-06	3.855e-05	4.1e-07	1.5e-07	.	.	0	0	0	3.855e-05	0	0	0	0	1.981e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.115	0.36630	T	0.999	0.77913	D	0.923	0.65830	D	.	.	.	.	0.780018	0.34255	D	0.695	0.17993	N	1.4	0.33630	T	-5.32	0.84525	D	0.651	0.68863	-0.9064	0.47285	T	0.156	0.48772	T	9	0.6265645	0.68276	D	0.014809	0.35167	T	0.233	0.53499	0.403	0.43408	0.242244723065	0.23846	0.03738915728788069	0.03684	.	.	0.91236358881	0.97689	D	0.284848	0.65763	T	-0.0403852	0.45891	T	-0.295787	0.45168	T	0.969634608716965	0.68660	D	0.910709	0.68343	D	0.30774316	0.53590	0.38524032	0.63445	0.30774316	0.53590	0.38524032	0.63445	-4.338	0.28706	T	.	.	0.408	0.60041	A	.;.;.;.	.;.;.;.	3.880453	0.56390	23.7	0.99515877367213801	0.68919	0.93698	0.58936	D	AEFI	0.768821	0.70427	D	0.36611775257577	0.59596	4.140255	0.268011276197734	0.53680	3.535864	7.96114560288291E-4	0.07826	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.45	2.45	0.28953	8.413000	0.90113	4.699000	0.44401	0.351000	0.19951	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	1.0:0.0:0.0:0.0	8.433	0.31930	546	0.72524	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	67.45	11	chr2	86984811	.	A	G	67.45	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.48;DP=284;ExcessHet=0;FS=2.869;InbreedingCoeff=-0.0344;MLEAC=1;MLEAF=0.026;MQ=49.62;MQRankSum=0.549;QD=4.5;ReadPosRankSum=-1.663;SOR=1.781	GT:AD:DP:GQ:PL	0/1:12,3:15:81:81,0,256	18	0	1	0
chr2	87748182	87748182	T	C	exonic	PLGLB1;PLGLB2	.	nonsynonymous SNV	PLGLB1:NM_001032392:exon1:c.T29C:p.L10P,PLGLB2:NM_002665:exon1:c.T29C:p.L10P	.	286	1233	3	0	0	3	0.00121507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	0.00359425	0.0009	0	0.0063	0	0	0.0005	0	0.0037	0.0010373	27	26028	rs200791595	0.0021	0.0017	0.0013	0.0028	0.0144	0.0020	0.0020	0.0136	0.0133	0.0002	0.0007	0.0050	2.801e-05	0.0010	0.0008	0.0007	0.0020	0.0144	0.0011	0.0013	0.0010	0.0012	0.0112	0.0009	0.0009	0.0085	0.0075	0.0001	0	0.0009	0.0084	0	0.0005	0	0.0008	0.0030	0.0112	0.016	0.51853	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.926582	0.36839	D	.	.	.	-0.25	0.67011	T	-3.4	0.67014	D	0.515	0.54584	-0.6149	0.64200	T	0.263	0.63372	T	6	0.013778657	0.00291	T	.	.	.	0.432	0.73807	0.566	0.68768	0.652492809915	0.64960	0.6299709681805652	0.62931	.	.	0.670973658562	0.62977	T	.	.	.	-0.248979	0.14223	T	-0.118741	0.61906	T	0.061215661531451	0.07358	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.46938	B	.	.	3.831914	0.55391	23.6	0.99660085483594851	0.77883	0.19516	0.20691	N	AEFI	0.588433	0.58570	D	-0.203912041097513	0.32973	1.865533	-0.296797683945778	0.28203	1.570651	1.53134341839697E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.812	0.812	0.17886	0.561000	0.23220	6.933000	0.56965	0.211000	0.17986	0.465000	0.26683	0.969000	0.29651	0.920000	0.45560	0.0:0.0:0.0:1.0	3.923	0.08753	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	109.0	6	chr2	87748182	.	T	C	109.0	.	AC=2;AF=0.053;AN=38;DP=151;ExcessHet=0;FS=0;InbreedingCoeff=0.7982;MLEAC=1;MLEAF=0.026;MQ=30.77;QD=27.25;SOR=3.258	GT:AD:DP:GQ:PL	1/1:0,4:4:12:133,12,0	18	1	0	0
chr2	87785112	87785112	T	C	exonic	RGPD1;RGPD2	.	nonsynonymous SNV	RGPD1:NM_001024457:exon19:c.A2615G:p.Y872C,RGPD2:NM_001078170:exon19:c.A2639G:p.Y880C,RGPD1:NM_001382344:exon19:c.A2639G:p.Y880C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0130832490864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.13e-06	1.697e-06	4.6e-06	0	3.478e-06	0	0	.	.	0	0	0	0	0	0	3.478e-06	0	0	0	1.319e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.026	0.55759	D	.	.	.	.	.	.	.	.	.	.	0.819963	0.34762	D	0.695	0.17993	N	1.4	0.33630	T	-5.32	0.84525	D	0.635	0.64818	-0.9692	0.37366	T	0.119	0.41735	T	9	0.43980157	0.58028	T	0.013083	0.32199	T	0.211	0.50185	0.407	0.44066	0.238705975628	0.23479	0.027095611989315992	0.02659	.	.	0.889497995377	0.95198	D	0.175622	0.52528	T	-0.0300916	0.47404	T	-0.281001	0.46702	T	0.952820139076041	0.63880	D	0.910709	0.68343	D	0.33035395	0.55500	0.39392805	0.64100	0.33035395	0.55500	0.39392805	0.64100	-4.159	0.26155	T	.	.	0.258	0.52752	B	.;.	.;.	4.373675	0.67362	25.1	0.99504017592439731	0.68206	0.90746	0.52183	D	AEFI	0.669570	0.63696	D	0.191911229499394	0.50811	3.267615	0.101119460824155	0.44604	2.739099	0.00112067956718639	0.08239	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.35	2.35	0.28166	7.341000	0.78540	2.352000	0.32320	0.319000	0.19345	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:0.0:1.0	8.251	0.30884	912	0.21483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	199.33	34	chr2	87785112	.	T	C	199.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.47;DP=753;ExcessHet=0;FS=2.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.8;MQRankSum=-0.336;QD=1.76;ReadPosRankSum=2.13;SOR=1.078	GT:AD:DP:GQ:PL	0/1:98,15:113:99:213,0,2791	18	0	1	0
chr2	94603085	94603085	G	A	exonic	LOC100509620	.	nonsynonymous SNV	LOC100509620:NM_001382497:exon5:c.G329A:p.R110H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1250449904	0.0001	0.0001	0.0001	0.0001	0.0006	0.0001	9.571e-05	0.0004	0.0004	6.048e-05	0.0006	0	0.0001	0	0	0.0001	8.396e-05	1.206e-05	9.192e-05	9.186e-05	0.0001	6.715e-05	0.0002	5.524e-05	4.361e-05	7.91e-05	5.995e-05	2.404e-05	0	0.0002	0	0	0	0	0.0001	0	0	0.045	0.40832	D	0.053	0.47336	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.02	0.85542	D	-3.37	0.66665	D	0.173	0.18512	.	.	.	.	.	.	.	0.13581991	0.25844	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.770923	0.40135	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09191	B	.	.	2.009263	0.25529	16.80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271000	0.18390	1.358000	0.25859	0.318000	0.19305	0.000000	0.06391	0.006000	0.19429	0.037000	0.13953	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	540.33	34	chr2	94603085	.	G	A	540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=686;ExcessHet=0;FS=1.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=1.51;SOR=0.963	GT:AD:DP:GQ:PL	0/1:34,23:57:99:554,0,803	18	0	1	0
chr2	94876599	94876599	C	T	exonic	TEKT4	.	stopgain	TEKT4:NM_001286559:exon6:c.C592T:p.R198X,TEKT4:NM_144705:exon6:c.C1138T:p.R380X	.	433	945	144	0	0	144	0.0707965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	1.007e-05	0	0	0	0	0	0	7.452e-05	1.29e-05	2	154602	rs545808608	1.37e-05	1.573e-05	1.227e-05	1.515e-05	0.0002	8.95e-06	7.27e-06	1.586e-05	9.32e-06	2.988e-05	2.241e-05	0	0	0	0.0002	8.097e-06	6.627e-05	4.654e-05	1.971e-05	1.969e-05	0	4.03e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.450852	0.12509	N	0.736301	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471834	0.93405	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.228656	0.96291	35	0.97017541695677512	0.32010	0.24513	0.22417	N	AEFDGBI	0.102425	0.20547	N	0.0223710035112601	0.42872	2.591521	-0.371233761802137	0.25859	1.424696	0.00857241372916873	0.11701	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	-4.85	0.02911	0.076000	0.14570	1.506000	0.26990	0.302000	0.18967	0.898000	0.31380	0.817000	0.27092	0.256000	0.23417	0.7115:0.2885:0.0:0.0	8.126	0.30157	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	1153.43	347	chr2	94876599	.	C	T	1153.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.864;DP=4199;ExcessHet=0.7564;FS=4.755;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=57.82;MQRankSum=-14.46;QD=1;ReadPosRankSum=-2.48;SOR=1.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,20:270:87:0|1:94876587_C_A:87,0,10339:94876587	15	0	4	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.4474	37055.9	473	chr2	94876632	.	C	T	37055.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-5.11;DP=6526;ExcessHet=31.086;FS=0;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.07;MQRankSum=-18.76;QD=5.89;ReadPosRankSum=-1.429;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:304,34:338:99:0|1:94876631_G_T:482,0,12495:94876631	2	0	17	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	43084.9	563	chr2	94876671	.	A	G	43084.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.332;DP=7395;ExcessHet=31.086;FS=1.384;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.94;MQRankSum=-20.34;QD=5.94;ReadPosRankSum=4.74;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:330,37:367:99:0|1:94876670_C_T:560,0,13630:94876670	2	0	17	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.4474	46132.9	570	chr2	94876674	.	G	A	46132.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.405;DP=7437;ExcessHet=31.086;FS=0.657;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.92;MQRankSum=-20.34;QD=6.34;ReadPosRankSum=4.97;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:328,37:365:99:0|1:94876670_C_T:566,0,13567:94876670	2	0	17	0
chr2	95149484	95149484	T	C	exonic	ZNF514	.	nonsynonymous SNV	ZNF514:NM_001318005:exon5:c.A1220G:p.H407R,ZNF514:NM_032788:exon5:c.A1001G:p.H334R	.	390	1122	10	0	0	10	0.00443656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.604	.	0.0010	0.00339457	0.0017	0.0006	0.0006	0	0	0.0011	0.0022	0.0068	0.0016106	249	154602	rs141510791	0.0014	0.0014	0.0012	0.0017	0.0073	0.0014	0.0014	0.0068	0.0066	0.0002	0.0012	0.0003	0	9.36e-05	0.0055	0.0012	0.0014	0.0073	0.0012	0.0012	0.0009	0.0014	0.0077	0.0010	0.0010	0.0057	0.0050	0.0004	0	0.0012	0.0014	0	9.438e-05	0	0.0014	0.0043	0.0077	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.981	0.75168	D	.	.	.	.	0.953275	0.37823	D	3.715	0.94732	H	-2.18	0.86722	D	-7.83	0.96005	D	0.639	0.72746	0.677	0.92885	D	0.791	0.92914	D	9	0.015602708	0.00327	T	.	.	.	0.604	0.84398	.	.	0.935693242267	0.93502	0.36414015189395926	0.36328	0.309480003285	0.33256	0.851956009865	0.89909	D	0.38788	0.74869	T	-0.062832	0.42463	T	0.140835	0.79598	D	0.132421882821341	0.15604	T	0.758124	0.38180	T	0.8201964	0.85233	0.71664095	0.83274	0.8201964	0.85234	0.71664095	0.83275	-11.481	0.82230	D	.	.	0.948	0.86679	P	.;.	.;.	2.898845	0.38415	20.7	0.99507799071575931	0.68440	0.12746	0.17454	N	AEFDBHCI	0.595607	0.59009	D	0.675354672854593	0.78017	6.787664	0.478011926596152	0.66535	4.964816	0.99441713441941	0.33626	0.646311	0.45356	0	0.670034	0.63936	0	0.658983	0.55881	0	0.699875	0.68795	0	.	.	2.4	2.4	0.28568	3.351000	0.51947	2.543000	0.33225	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.993000	0.69303	0.0:0.0:0.0:1.0	8.675	0.33334	.	.	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.022727	0.02632	1992.33	33	chr2	95149484	.	T	C	1992.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.042;DP=782;ExcessHet=0;FS=1.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.479;SOR=0.865	GT:AD:DP:GQ:PL	0/1:85,86:171:99:2006,0,2112	18	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	25429.3	297	chr2	95855390	.	T	C	25429.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.2;DP=4819;ExcessHet=48.2876;FS=21.823;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.65;MQRankSum=-11.56;QD=5.47;ReadPosRankSum=-6.798;SOR=2.121	GT:AD:DP:GQ:PL	0/1:195,72:267:99:1551,0,5471	0	0	19	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	60963.4	298	chr2	95855549	.	T	C	60963.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.128;DP=6596;ExcessHet=48.2876;FS=13.468;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.36;MQRankSum=-12.9;QD=9.49;ReadPosRankSum=0.896;SOR=1.314	GT:AD:DP:GQ:PL	0/1:212,197:409:99:4560,0,5888	0	0	19	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	48661.4	222	chr2	95855576	.	A	G	48661.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.413;DP=5637;ExcessHet=48.2876;FS=28.241;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=46.08;MQRankSum=-12.28;QD=8.91;ReadPosRankSum=-3.201;SOR=1.955	GT:AD:DP:GQ:PL	0/1:213,141:354:99:3815,0,6038	0	0	19	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36166.4	226	chr2	95855588	.	T	C	36166.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.66;DP=5339;ExcessHet=48.2876;FS=33.512;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.33;MQRankSum=-11.31;QD=6.95;ReadPosRankSum=-3.814;SOR=2.254	GT:AD:DP:GQ:PL	0/1:215,114:329:99:2763,0,6218	0	0	19	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3421	4805.56	85	chr2	95859895	.	T	C	4805.56	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.153;DP=1801;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5223;MLEAC=13;MLEAF=0.342;MQ=58.06;MQRankSum=-0.944;QD=3.74;ReadPosRankSum=0.717;SOR=0.594	GT:AD:DP:GQ:PL	0/1:94,22:116:99:560,0,3840	6	0	13	0
chr2	95859919	95859922	TTTC	-	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.4933_4936del:p.E1645*	.	883	625	11	3	0	17	0.0134175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006531	17	26028	rs768643439	2.009e-05	0.0015	1.84e-05	2.183e-05	6.369e-05	1.393e-05	1.199e-05	2.459e-05	1.549e-05	6.369e-05	2.828e-05	0	2.817e-05	0.0003	0	2.786e-06	3.457e-05	6.362e-05	6.589e-06	0.0009	1.289e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	230.75	104	chr2	95859918	.	ATTTC	A	230.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.928;DP=2254;ExcessHet=0.3672;FS=0.711;InbreedingCoeff=-0.0856;MLEAC=3;MLEAF=0.079;MQ=58.54;MQRankSum=-4.385;QD=0.62;ReadPosRankSum=0.84;SOR=0.583	GT:AD:DP:GQ:PL	0/1:145,11:156:26:26,0,5931	16	0	3	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	29493.3	133	chr2	95859969	.	A	AT	29493.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.426;DP=2924;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-8.967;QD=10.26;ReadPosRankSum=0.47;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,62:176:99:0|1:95859969_A_AT:2220,0,4580:95859969	0	0	19	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29433.3	135	chr2	95859970	.	G	T	29433.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.157;DP=2921;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-9.055;QD=10.21;ReadPosRankSum=0.274;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,62:176:99:0|1:95859969_A_AT:2220,0,4580:95859969	0	0	19	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29033.3	133	chr2	95859975	.	C	T	29033.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.208;DP=2893;ExcessHet=48.2876;FS=5.618;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.84;MQRankSum=-9;QD=10.11;ReadPosRankSum=0.168;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,63:176:99:0|1:95859969_A_AT:2285,0,4555:95859969	0	0	19	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26746.3	132	chr2	95859988	.	T	C	26746.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.252;DP=2861;ExcessHet=48.2876;FS=6.76;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.72;MQRankSum=-8.913;QD=9.48;ReadPosRankSum=-0.496;SOR=1.161	GT:AD:DP:GQ:PL	0/1:113,53:166:99:1866,0,3126	0	0	19	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18752.3	122	chr2	95860002	.	T	A	18752.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.06;DP=2730;ExcessHet=48.2876;FS=6.113;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.68;MQRankSum=-8.443;QD=6.95;ReadPosRankSum=-0.759;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:111,43:154:99:.:.:961,0,4459:.	0	0	19	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	23267.3	119	chr2	95860007	.	A	T	23267.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.68;DP=2659;ExcessHet=48.2876;FS=7.204;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.65;MQRankSum=-8.406;QD=8.8;ReadPosRankSum=-1.07;SOR=1.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:105,45:150:99:.:.:1573,0,4233:.	0	0	19	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20158.3	113	chr2	95860020	.	G	A	20158.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.619;DP=2471;ExcessHet=48.2876;FS=6.268;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.59;MQRankSum=-8.166;QD=8.31;ReadPosRankSum=-1.454;SOR=1.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,41:141:99:0|1:95860020_G_A:1401,0,3960:95860020	0	0	19	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	19380.3	111	chr2	95860023	.	A	C	19380.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.39;DP=2404;ExcessHet=48.2876;FS=7.636;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.56;MQRankSum=-8.267;QD=8.09;ReadPosRankSum=-1.399;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,41:140:99:0|1:95860020_G_A:1404,0,3928:95860020	0	0	19	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11904.3	89	chr2	95860046	.	C	A	11904.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.751;DP=1934;ExcessHet=48.2876;FS=11.691;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.24;MQRankSum=-9.124;QD=6.3;ReadPosRankSum=-0.315;SOR=1.619	GT:AD:DP:GQ:PL	0/1:80,29:109:99:949,0,2296	0	0	19	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18862.3	164	chr2	95927222	.	G	GAT	18862.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.6;DP=3163;ExcessHet=48.2876;FS=34.38;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.61;MQRankSum=-10.17;QD=6.03;ReadPosRankSum=-5.284;SOR=3.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,44:182:99:0|1:95927222_G_GAT:1432,0,5661:95927222	0	0	19	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	26377.3	184	chr2	95927226	.	GTT	G	26377.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.39;DP=3487;ExcessHet=48.2876;FS=11.32;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.52;MQRankSum=-10.76;QD=7.59;ReadPosRankSum=-5.284;SOR=1.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,54:200:99:0|1:95927222_G_GAT:1828,0,5967:95927222	0	0	19	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	35910.4	215	chr2	95927234	.	T	C	35910.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.871;DP=3849;ExcessHet=48.2876;FS=7.304;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.28;MQRankSum=-11.77;QD=9.36;ReadPosRankSum=-6.004;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,61:217:99:0|1:95927222_G_GAT:2092,0,6367:95927222	0	0	19	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	63959.4	272	chr2	95927252	.	A	G	63959.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.312;DP=4936;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.51;MQRankSum=-14.02;QD=13;ReadPosRankSum=-5.496;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,102:291:99:0|1:95927222_G_GAT:3714,0,7629:95927222	0	0	19	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87835.4	322	chr2	95927268	.	C	A	87835.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-5.958;DP=5895;ExcessHet=48.2876;FS=3.314;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.8;MQRankSum=-15.82;QD=14.94;ReadPosRankSum=-3.622;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,140:352:99:0|1:95927222_G_GAT:5240,0,8480:95927222	0	0	19	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89248.4	328	chr2	95927277	.	C	T	89248.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-6.782;DP=6158;ExcessHet=48.2876;FS=4.127;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.73;MQRankSum=-16.01;QD=14.73;ReadPosRankSum=-1.494;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:220,144:364:99:0|1:95927222_G_GAT:5303,0,8609:95927222	0	0	19	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	39801.4	216	chr2	95929092	.	T	C	39801.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.974;DP=3809;ExcessHet=48.2876;FS=9.792;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.28;MQRankSum=-9.617;QD=10.54;ReadPosRankSum=-3.918;SOR=1.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,110:267:99:0|1:95929092_T_C:4049,0,6113:95929092	0	0	19	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	49331.4	246	chr2	95929110	.	A	G	49331.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=8.94;DP=4414;ExcessHet=48.2876;FS=9.734;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=45.28;MQRankSum=-9.563;QD=11.19;ReadPosRankSum=-2.139;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,126:305:99:0|1:95929092_T_C:4743,0,7117:95929092	0	0	19	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	66098.4	287	chr2	95929126	.	C	A	66098.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.33;DP=5158;ExcessHet=48.2876;FS=18.99;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.08;MQRankSum=-9.946;QD=12.83;ReadPosRankSum=-1.47;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,159:353:99:0|1:95929092_T_C:6092,0,7667:95929092	0	0	19	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	71010.4	295	chr2	95929130	.	G	C	71010.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.88;DP=5365;ExcessHet=48.2876;FS=20.95;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.69;MQRankSum=-9.89;QD=13.27;ReadPosRankSum=-1.093;SOR=1.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,168:369:99:0|1:95929092_T_C:6449,0,7914:95929092	0	0	19	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	74075.4	304	chr2	95929135	.	C	T	74075.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.95;DP=5621;ExcessHet=48.2876;FS=22.763;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.18;MQRankSum=-9.69;QD=13.51;ReadPosRankSum=-1.078;SOR=1.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,177:378:99:0|1:95929092_T_C:6731,0,7880:95929092	0	0	19	0
chr2	95962541	95962541	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon7:c.C806T:p.S269F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.00991441437078	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1279538962	4.833e-06	5.472e-06	4.124e-06	5.548e-06	5.402e-06	2.01e-06	1.29e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.402e-06	1.663e-05	0	1.316e-05	1.314e-05	0	2.694e-05	2.944e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.944e-05	0	0	0.001	0.78490	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.37	0.80214	T	-1.02	0.26843	N	0.37	0.41162	-0.6036	0.64668	T	0.372	0.73121	T	7	0.22886527	0.39801	T	0.009914	0.25811	T	0.308	0.62947	0.488	0.57257	0.611199080189	0.60807	0.13704277996643888	0.13628	.	.	.	.	.	0.005249	0.04698	T	-0.000453583	0.51593	T	-0.238428	0.50952	T	0.378739476203918	0.28134	T	0.859414	0.55137	D	0.06853617	0.14940	0.07008977	0.14850	0.06853617	0.14940	0.07008977	0.14850	-7.233	0.55717	T	.	.	0.298	0.52801	B	.	.	3.291875	0.45147	22.1	0.95293401780183162	0.26602	0.23486	0.22091	N	AEFGBI	0.042304	0.06545	N	-0.402296208579968	0.25388	1.377831	-0.560339649073927	0.20531	1.106604	8.76863986404052E-5	0.04703	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	1.25	1.25	0.20475	2.545000	0.45429	-0.343000	0.09801	0.463000	0.21641	0.933000	0.32380	0.000000	0.08366	0.002000	0.04165	0.0:0.0:1.0:0.0	5.963	0.18547	284	0.88763	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1319.33	36	chr2	95962541	.	G	A	1319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=806;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.407;SOR=0.721	GT:AD:DP:GQ:PL	0/1:70,51:121:99:1333,0,1845	18	0	1	0
chr2	96195459	96195459	T	A	exonic	STARD7	.	nonsynonymous SNV	STARD7:NM_001385622:exon2:c.A78T:p.Q26H,STARD7:NM_020151:exon2:c.A381T:p.Q127H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	.	0.00219649	0.0009	0	0.0002	0	0	0	0	0.0069	0.0007568	117	154602	rs570567602	0.0003	0.0003	0.0001	0.0005	0.0057	0.0003	0.0003	0.0053	0.0051	0	2.237e-05	0	0	0	0	8.995e-07	0.0001	0.0057	0.0002	0.0002	0.0002	0.0003	0.0073	0.0002	0.0001	0.0054	0.0047	0	0	0	0	0	0	0	0	0	0.0073	0.08	0.33585	T	0.115	0.36630	T	0.921	0.51088	P	0.455	0.46267	P	0.166690	0.17497	N	0.564860	0.999736	0.20548	N	0	0.06538	N	1.21	0.37230	T	-0.92	0.24676	N	0.075	0.04913	-1.0481	0.14932	T	0.040	0.17063	T	10	0.004811257	0.00102	T	.	.	.	0.060	0.17295	0.359	0.36222	0.0934897674506	0.08844	0.3201365188747313	0.31926	0.539162828098	0.51153	0.287214577198	0.08518	T	0.010581	0.15470	T	-0.524445	0.00414	T	-0.523216	0.19971	T	0.0603771436796204	0.07227	T	0.477152	0.14354	T	0.029966941	0.02580	0.04382768	0.05540	0.029966941	0.02579	0.04382768	0.05539	-4.074	0.24905	T	.	.	0.076	0.07841	B	.;.	.;.	2.048515	0.26042	16.98	0.98509143057487325	0.42313	0.14261	0.18308	N	AEFDBIJ	0.062163	0.11933	N	-0.432881094399584	0.24324	1.312582	-0.432023915751927	0.24064	1.315651	0.999915362342014	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	0.69	0.17203	0.030000	0.13576	0.157000	0.15360	-0.117000	0.14459	0.448000	0.26550	0.427000	0.24836	0.987000	0.62547	0.1462:0.3256:0.0:0.5282	4.305	0.10384	296	0.88164	START domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1506.33	33	chr2	96195459	.	T	A	1506.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.546;DP=775;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.535;SOR=0.689	GT:AD:DP:GQ:PL	0/1:47,58:105:99:1520,0,1155	18	0	1	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	9025.83	153	chr2	97185336	.	GC	G	9025.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.382;DP=2743;ExcessHet=31.086;FS=1.658;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=47.08;MQRankSum=-6.249;QD=3.62;ReadPosRankSum=0.503;SOR=0.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,29:177:99:0|1:97185336_GC_G:772,0,6081:97185336	2	0	17	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8913.86	155	chr2	97185340	.	C	G	8913.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.075;DP=2782;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.92;MQRankSum=-5.789;QD=3.53;ReadPosRankSum=0.964;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,29:176:99:0|1:97185336_GC_G:775,0,6085:97185336	2	0	17	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8891.83	152	chr2	97185341	.	A	AG	8891.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.346;DP=2792;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=46.81;MQRankSum=-5.722;QD=3.51;ReadPosRankSum=1.18;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,29:176:99:0|1:97185336_GC_G:775,0,6085:97185336	2	0	17	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8743.83	157	chr2	97185345	.	GTAAT	G	8743.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.208;DP=2918;ExcessHet=31.086;FS=1.743;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.15;MQRankSum=-5.332;QD=3.29;ReadPosRankSum=2.28;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,30:189:99:0|1:97185336_GC_G:781,0,6480:97185336	2	0	17	0
chr2	97243955	97243955	G	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.G4417A:p.V1473M	.	590	849	81	2	0	85	0.0476725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.000601302842856	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1464545187	1.381e-06	1.368e-06	1.373e-06	1.389e-06	6.034e-05	2.3e-07	9e-08	9.99e-06	3.74e-06	6.034e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.072	0.43344	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.625	0.15840	N	2.18	0.18875	T	-0.61	0.18042	N	0.143	0.14338	-1.0301	0.20422	T	0.064	0.26385	T	9	0.118860304	0.22481	T	6.01E-4	0.00274	T	0.057	0.16321	.	.	0.146414634003	0.14194	.	.	.	.	0.764153659344	0.76549	T	0.002011	0.01422	T	-0.348598	0.04816	T	-0.738513	0.03953	T	0.0706987633268221	0.08749	T	0.538946	0.18179	T	0.025526589	0.01501	0.03953559	0.04069	0.025526589	0.01501	0.03953559	0.04069	.	.	.	.	.	0.174	0.38062	B	.;.	.;.	0.916956	0.12915	9.426	0.99162555497301486	0.54155	0.01609	0.05211	N	AEFI	0.021311	0.00936	N	-0.795791736362122	0.13420	0.660932	-0.960271156234613	0.10686	0.5397609	1.09738267022487E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	-0.126	0.12855	-0.092000	0.11094	-8.711000	0.00925	0.347000	0.19874	0.479000	0.26792	0.000000	0.08366	0.002000	0.04165	0.3289:0.0:0.6711:0.0	5.417	0.15679	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	298.09	36	chr2	97243955	.	G	A	298.09	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.94;DP=1574;ExcessHet=0.3672;FS=40.022;InbreedingCoeff=-0.092;MLEAC=3;MLEAF=0.079;MQ=38.89;MQRankSum=-3.689;QD=0.61;ReadPosRankSum=-1.56;SOR=8.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,16:188:99:0|1:97243955_G_A:154,0,7149:97243955	16	0	3	0
chr2	97243956	97243956	T	C	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.T4418C:p.V1473A	.	590	847	83	2	0	87	0.048849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000513303010245	.	.	.	.	.	.	.	.	.	.	.	.	.	rs934444205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.24277	T	0.332	0.18449	T	0.023	0.18885	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	2.13	0.19588	T	-1.43	0.35194	N	0.122	0.11340	-1.0309	0.20163	T	0.062	0.25744	T	9	0.12386596	0.23518	T	5.13E-4	0.00163	T	0.038	0.09825	.	.	0.128392430309	0.12331	.	.	.	.	0.778462767601	0.78697	T	0.00501	0.04439	T	-0.342858	0.05193	T	-0.730268	0.04316	T	0.0193876803876741	0.00643	T	0.321068	0.06505	T	0.028899712	0.02298	0.036257796	0.03036	0.028899712	0.02298	0.036257796	0.03036	.	.	.	.	.	0.206	0.43269	B	.;.	.;.	-0.260122	0.02797	0.383	0.6572940365307649	0.07855	0.01765	0.05546	N	AEFI	0.022039	0.01053	N	-0.814270253956863	0.12945	0.6343988	-0.97458338646845	0.10358	0.5211802	1.10007016109811E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.197	0.14443	-0.334000	0.07927	-2.096000	0.04219	-0.627000	0.04526	0.469000	0.26714	0.000000	0.08366	0.002000	0.04165	0.0:0.4538:0.0:0.5462	4.056	0.09296	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	324.11	36	chr2	97243956	.	T	C	324.11	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.47;DP=1573;ExcessHet=0.3672;FS=40.022;InbreedingCoeff=-0.0926;MLEAC=3;MLEAF=0.079;MQ=38.89;MQRankSum=-3.689;QD=0.66;ReadPosRankSum=-1.32;SOR=7.168	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,16:188:99:0|1:97243955_G_A:154,0,7149:97243955	16	0	3	0
chr2	97243965	97243965	C	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4427A:p.P1476Q	.	591	842	87	2	0	91	0.0512676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.000600742623665	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879789998	6.907e-07	6.843e-07	0	1.389e-06	2.324e-05	0	0	.	.	0	2.324e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.01938	T	0.828	0.03739	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.445	0.00556	N	2.52	0.14160	T	4.39	0.00039	N	0.233	0.26233	-0.9411	0.42442	T	0.006	0.02093	T	9	0.030890793	0.01219	T	6.01E-4	0.00274	T	0.044	0.11924	.	.	0.0401082797425	0.02173	.	.	.	.	0.80995708704	0.83485	D	0.007683	0.07071	T	-0.355694	0.04379	T	-0.748706	0.03536	T	0.0436866157378679	0.04362	T	0.315568	0.06252	T	0.02105173	0.00688	0.043300506	0.05356	0.02105173	0.00688	0.043300506	0.05356	.	.	.	.	.	0.071	0.03925	B	.;.	.;.	0.290474	0.06670	3.169	0.19759172413942741	0.00681	0.00555	0.02537	N	AEFI	0.011953	0.00118	N	-1.76782903256606	0.00629	0.02711347	-1.6686180707587	0.01283	0.05784733	1.10704589977209E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.145	0.14124	1.831000	0.38781	2.064000	0.30409	-0.484000	0.05061	0.987000	0.36337	0.011000	0.20116	0.002000	0.04165	0.4439:0.2817:0.0:0.2744	2.431	0.04199	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1112.14	36	chr2	97243965	.	C	A	1112.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.5;DP=1690;ExcessHet=4.0268;FS=20.316;InbreedingCoeff=-0.2647;MLEAC=8;MLEAF=0.211;MQ=38.8;MQRankSum=-3.599;QD=0.97;ReadPosRankSum=-1.119;SOR=2.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,23:195:99:0|1:97243955_G_A:408,0,7115:97243955	11	0	8	0
chr2	97243982	97243982	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.A4444G:p.K1482E	.	594	783	141	4	0	149	0.0868805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000813122360056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879765967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.27	0.17431	T	-1.46	0.35792	N	0.191	0.20925	-1.0431	0.16383	T	0.055	0.23375	T	9	0.088907	0.15351	T	8.13E-4	0.00649	T	0.034	0.08419	.	.	0.0482279557977	0.04254	.	.	.	.	0.827668607235	0.86205	D	0.021647	0.16823	T	-0.288376	0.09799	T	-0.652008	0.08814	T	0.0863367564439753	0.10777	T	0.369363	0.08678	T	0.08514416	0.19738	0.10756626	0.25897	0.08514416	0.19737	0.10756626	0.25896	.	.	.	.	.	0.159	0.35183	B	.;.	.;.	0.562033	0.09308	6.087	0.3763639411248757	0.02492	0.01858	0.05739	N	AEFI	0.031364	0.03344	N	-1.15756630415575	0.05656	0.2584313	-1.32943360964929	0.04054	0.1904441	1.15881377853183E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.142	0.14111	0.033000	0.13642	-8.971000	0.00886	-0.471000	0.05090	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.8106:0.0:0.1894:0.0	4.893	0.13094	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	3701.21	121	chr2	97243982	.	A	G	3701.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.663;DP=1984;ExcessHet=8.9063;FS=10.685;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=38.55;MQRankSum=-3.708;QD=2.45;ReadPosRankSum=-0.591;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,27:183:99:0|1:97243981_C_T:664,0,6469:97243981	8	0	11	0
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	4295.86	115	chr2	97243989	.	C	T	4295.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.133;DP=2005;ExcessHet=11.1788;FS=8.896;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=38.19;MQRankSum=-3.269;QD=2.7;ReadPosRankSum=0.333;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,30:179:99:0|1:97243981_C_T:791,0,6166:97243981	7	0	12	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5263	64897.0	159	chr2	97513220	.	G	A	64897.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.096;DP=3961;ExcessHet=38.2876;FS=4.24;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.14;MQRankSum=-3.677;QD=16.4;ReadPosRankSum=0.819;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,134:258:99:0|1:97513219_T_C:5253,0,4803:97513219	0	1	18	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5263	68935.0	164	chr2	97513227	.	T	C	68935.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.29;DP=4239;ExcessHet=38.2876;FS=3.338;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.44;MQRankSum=-4.04;QD=16.5;ReadPosRankSum=0.983;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,141:271:99:0|1:97513219_T_C:5529,0,4999:97513219	0	1	18	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5263	84738.0	186	chr2	97513244	.	G	T	84738.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.875;DP=4777;ExcessHet=38.2876;FS=3.221;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.9;MQRankSum=-3.997;QD=17.8;ReadPosRankSum=0.056;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,172:322:99:0|1:97513244_G_T:6771,0,5662:97513244	0	1	18	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5263	90004.0	197	chr2	97513253	.	A	G	90004.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.442;DP=4968;ExcessHet=38.2876;FS=3.203;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.26;ReadPosRankSum=-0.22;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,178:324:99:0|1:97513244_G_T:7010,0,5570:97513244	0	1	18	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5263	90016.0	197	chr2	97513254	.	C	T	90016.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.225;DP=4978;ExcessHet=38.2876;FS=3.233;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.28;ReadPosRankSum=-0.275;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,178:323:99:0|1:97513244_G_T:7013,0,5532:97513244	0	1	18	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5263	97631.0	207	chr2	97513268	.	C	T	97631.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.519;DP=5204;ExcessHet=38.2876;FS=2.457;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.34;MQRankSum=-4.276;QD=18.86;ReadPosRankSum=0.097;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,181:334:99:0|1:97513268_C_T:7124,0,5880:97513268	0	1	18	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5263	95844.0	211	chr2	97513270	.	A	C	95844.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.821;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.42;MQRankSum=-4.193;QD=18.3;ReadPosRankSum=-0.308;SOR=0.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,186:339:99:0|1:97513268_C_T:7273,0,5865:97513268	0	1	18	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5263	98710.0	209	chr2	97513271	.	T	C	98710.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.177;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.46;MQRankSum=-4.272;QD=18.84;ReadPosRankSum=-0.525;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,187:340:99:0|1:97513268_C_T:7312,0,5862:97513268	0	1	18	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5263	99301.0	210	chr2	97513281	.	C	T	99301.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.601;DP=5349;ExcessHet=38.2876;FS=2.432;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.86;MQRankSum=-4.794;QD=18.72;ReadPosRankSum=-0.367;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,190:344:99:0|1:97513268_C_T:7318,0,5806:97513268	0	1	18	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	23586.3	111	chr2	97513354	.	T	C	23586.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.38;DP=3107;ExcessHet=48.2876;FS=1.966;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=39.22;MQRankSum=-3.517;QD=7.83;ReadPosRankSum=0.701;SOR=0.53	GT:AD:DP:GQ:PL	0/1:133,62:195:99:1266,0,3499	0	0	19	0
chr2	98093216	98093216	C	A	exonic	VWA3B	.	nonsynonymous SNV	VWA3B:NM_144992:exon2:c.C124A:p.L42M	.	.	.	.	.	.	.	.	.	.	.	3202222	VWA3B-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.081	0.00530277103546	0.0011	0.000399361	0.0012	0.0002	0.0002	0	0.0018	0.0016	0.0044	0.0012	0.001119	173	154602	rs200359284	0.0011	0.0011	0.0011	0.0011	0.0015	0.0011	0.0011	0.0013	0.0012	0.0002	0.0003	7.652e-05	0	0.0024	0.0007	0.0011	0.0011	0.0015	0.0009	0.0009	0.0009	0.0008	0.0017	0.0008	0.0007	0.0012	0.0011	0.0002	0	0.0003	0	0	0.0016	0	0.0014	0.0005	0.0017	0.109	0.29288	T	0.019	0.59159	D	0.82	0.45712	P	0.278	0.40236	B	0.014478	0.28523	N	0.246804	0.999998	0.29201	N	1.28	0.32218	L	7.36	0.00416	T	-0.76	0.21215	N	0.202	0.22357	-0.8606	0.51220	T	0.001	0.00318	T	10	0.007692039	0.00175	T	0.005303	0.13556	T	0.081	0.23632	.	.	0.0806252709748	0.07271	0.19066139056105205	0.18984	0.127796915303	0.14414	0.309877634048	0.11889	T	8.96E-4	0.00456	T	-0.512332	0.00487	T	-0.533334	0.18955	T	0.0100202060311041	0.00134	T	0.776522	0.40874	T	0.07417105	0.16626	0.075564034	0.16649	0.07403451	0.16585	0.0918049	0.21603	-4.146	0.25966	T	.	.	0.104	0.18991	B	.	.	2.056307	0.26141	17.01	0.98225266975148628	0.39343	0.05796	0.11732	N	AEFDGBI	0.105601	0.21095	N	-0.227322540434671	0.32016	1.801179	-0.235760094234398	0.30265	1.702574	0.0317367774950671	0.14018	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.52	2.41	0.28644	0.024000	0.13447	0.354000	0.17507	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.2903:0.6286:0.0:0.081	8.043	0.29692	460	0.78750	.	.	.	.	.	.	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	0	0	1	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1594.33	34	chr2	98093216	.	C	A	1594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.381;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-1.361;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,66:136:99:0|1:98093216_C_A:1608,0,2739:98093216	18	0	1	0
chr2	105080006	105080006	C	T	exonic	MRPS9	.	nonsynonymous SNV	MRPS9:NM_182640:exon5:c.C433T:p.R145C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.769	0.244674202022	.	0.000199681	9.065e-05	0	0	0	0	2.999e-05	0	0.0005	8.41e-05	13	154602	rs570793446	4.456e-05	4.583e-05	3.274e-05	5.649e-05	0.0007	3.582e-05	3.264e-05	0.0005	0.0005	0	0	0	0	0	0	5.403e-06	1.66e-05	0.0007	4.603e-05	4.596e-05	1.286e-05	8.072e-05	0.0015	2.111e-05	1.528e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	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	3.39	0.91563	M	-3.01	0.92208	D	-7.31	0.94511	D	0.883	0.88137	0.965	0.96626	D	0.880	0.96025	D	10	0.63072014	0.68500	D	0.244674	0.88854	D	0.769	0.92212	0.446	0.50466	0.978759306225	0.97853	0.8848027628440854	0.88448	0.788677996729	0.65652	0.655198454857	0.60723	T	0.312685	0.68449	T	0.0278685	0.55439	T	0.174519	0.81677	D	0.988415241241455	0.78748	D	0.912409	0.68863	D	0.8117134	0.84666	0.6506744	0.79562	0.8117134	0.84668	0.6506744	0.79563	-10.166	0.74899	D	.	.	0.393	0.59182	A	.	.	5.429861	0.90806	31	0.9990461408491117	0.97576	0.96934	0.71741	D	AEFBI	0.887766	0.82029	D	0.80521915493146	0.86431	8.883569	0.745428583578531	0.85817	8.694635	0.999994159055777	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.71	4.83	0.61880	6.946000	0.75758	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9298:0.0:0.0702	14.570	0.67798	845	0.36510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	846.33	33	chr2	105080006	.	C	T	846.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=698;ExcessHet=0;FS=1.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.246;SOR=0.765	GT:AD:DP:GQ:PL	0/1:43,35:78:99:860,0,948	18	0	1	0
chr2	111833262	111833262	T	C	exonic	ANAPC1	.	nonsynonymous SNV	ANAPC1:NM_022662:exon20:c.A2434G:p.T812A	.	.	.	.	.	.	.	.	.	.	.	2363651	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.00410687717145	.	.	0.0001	0	0	0	0	0	0	0.0010	3.84e-05	1	26028	rs769523865	4.272e-05	4.241e-05	2.19e-05	6.383e-05	0.0006	3.401e-05	3.087e-05	0.0005	0.0005	0	0	0	0	3.766e-05	0	9.058e-07	6.678e-05	0.0006	6.573e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.411	0.10115	T	0.813	0.03910	T	0.0	0.02946	B	0.0	0.01387	B	0.001520	0.38793	U	0.000000	0.999862	0.19989	N	0.29	0.10111	N	.	.	.	-0.38	0.13418	N	0.137	0.13484	-1.0218	0.23129	T	0.051	0.21806	T	9	0.04121679	0.02758	T	0.004107	0.09838	T	0.020	0.03691	0.342	0.33464	0.0297737177859	0.01360	0.1440123693634915	0.14324	.	.	0.349791049957	0.17891	T	0.005031	0.04462	T	-0.450832	0.01117	T	-0.524571	0.19833	T	0.0159781118856463	0.00380	T	0.609039	0.23055	T	0.07923403	0.18090	0.028976792	0.01186	0.07923403	0.18090	0.028976792	0.01186	-3.335	0.14193	T	.	.	0.058	0.00647	B	.	.	1.650357	0.21054	15.03	0.9479581287610146	0.25540	0.40708	0.26496	N	AEFBI	0.039432	0.05728	N	-0.758552685309237	0.14402	0.7171171	-0.656160658015593	0.18061	0.9631884	1.60900025767574E-4	0.05650	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.4	2.0	0.25495	1.028000	0.29734	0.143000	0.15197	0.573000	0.29008	0.996000	0.39380	0.140000	0.23083	0.962000	0.52141	0.0:0.2653:0.0:0.7347	7.669	0.27616	909	0.22467	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1821.33	33	chr2	111833262	.	T	C	1821.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.704;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.31;MQRankSum=-3.304;QD=15.05;ReadPosRankSum=0.656;SOR=0.651	GT:AD:DP:GQ:PL	0/1:51,70:121:99:1835,0,1185	18	0	1	0
chr2	130346051	130346051	C	T	exonic	IMP4	.	nonsynonymous SNV	IMP4:NM_001320309:exon6:c.C373T:p.P125S,IMP4:NM_001371725:exon6:c.C712T:p.P238S,IMP4:NM_001371730:exon6:c.C457T:p.P153S,IMP4:NM_001371731:exon6:c.C373T:p.P125S,IMP4:NM_001320304:exon7:c.C622T:p.P208S,IMP4:NM_001320305:exon7:c.C574T:p.P192S,IMP4:NM_001320306:exon7:c.C463T:p.P155S,IMP4:NM_001320307:exon7:c.C463T:p.P155S,IMP4:NM_001320310:exon7:c.C373T:p.P125S,IMP4:NM_001320311:exon7:c.C364T:p.P122S,IMP4:NM_001371728:exon7:c.C625T:p.P209S,IMP4:NM_001371732:exon7:c.C373T:p.P125S,IMP4:NM_001371733:exon7:c.C373T:p.P125S,IMP4:NM_001371734:exon7:c.C373T:p.P125S,IMP4:NM_033416:exon7:c.C628T:p.P210S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	.	0.0058	0.00958466	0.0021	0.0210	0.0018	0.0002	0	0.0001	0	0	0.0020763	321	154602	rs114061533	0.0007	0.0007	0.0008	0.0005	0.0205	0.0006	0.0006	0.0192	0.0187	0.0205	0.0015	0.0010	2.519e-05	3.744e-05	0.0007	6.115e-05	0.0017	0	0.0060	0.0060	0.0061	0.0058	0.0199	0.0056	0.0055	0.0188	0.0184	0.0199	0	0.0039	0.0012	0	0	0.0034	7.349e-05	0.0043	0.0002	0.016	0.55530	D	0.017	0.61642	D	0.975	0.58077	D	0.893	0.63340	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.355	0.91145	M	1.88	0.23884	T	-7.79	0.96058	D	0.737	0.76573	-0.8721	0.50371	T	0.081	0.31972	T	10	0.009857744	0.00221	T	.	.	.	0.336	0.65816	.	.	0.451023696535	0.44722	0.7485669654971965	0.74802	0.862312818367	0.69017	0.677957177162	0.63975	T	0.250928	0.62110	T	-0.351608	0.04626	T	-0.26158	0.48666	T	0.100043258959822	0.12362	T	0.985601	0.95079	D	0.76913965	0.81996	0.71780133	0.83341	0.76913965	0.81998	0.71780133	0.83342	-8.597	0.65069	D	.	.	0.692	0.72951	P	.;.;.;.	.;.;.;.	4.583428	0.72430	25.8	0.9993191409315606	0.99439	0.98707	0.85832	D	AEFBCI	0.876626	0.80074	D	0.903930147343287	0.91952	11.15217	0.87145240158026	0.94204	12.58209	0.999999999999999	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	7.199000	0.77351	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.862000	0.40904	0.0:1.0:0.0:0.0	17.801	0.88496	982	0.03397	Brix domain|Brix domain|Brix domain;Brix domain|Brix domain|Brix domain;Brix domain|Brix domain|Brix domain;Brix domain|Brix domain|Brix domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.030303	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3211.33	44	chr2	130346051	.	C	T	3211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.849;DP=881;ExcessHet=0;FS=1.551;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-0.161;SOR=0.812	GT:AD:DP:GQ:PL	0/1:119,122:241:99:3225,0,3174	18	0	1	0
chr2	130464045	130464045	G	A	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon15:c.C1999T:p.H667Y,POTEI:NM_001371926:exon17:c.C2065T:p.H689Y	.	933	588	1	0	0	1	0.000849618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	0.0199681	0.0369	0.0504	0.0909	0	0	0	0.1667	0	0.0039573	103	26028	rs550511723	0.0005	0.0009	0.0006	0.0005	0.0143	0.0005	0.0005	0.0131	0.0126	0.0143	0.0017	0.0007	0	0.0001	0.0004	3.498e-05	0.0015	0.0001	0.0018	0.0083	0.0020	0.0015	0.0078	0.0012	0.0011	0.0012	0.0010	0.0017	.	0.0024	0	0	0	0	0.0078	0	0	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.75	0.45442	L	2.53	0.14038	T	-0.89	0.24026	N	0.105	0.08925	-0.9942	0.31512	T	0.029	0.12409	T	7	0.002271235	0.00033	T	.	.	.	0.016	0.02506	0.181	0.08877	.	.	0.004200482245101664	0.00394	.	.	0.732345223427	0.71849	T	0.015852	0.13217	T	-0.362922	0.03968	T	-0.759089	0.03145	T	0.00490050080736641	0.00053	T	0.250975	0.03793	T	0.16880018	0.37359	0.1442219	0.34247	0.16880018	0.37358	0.1442219	0.34246	-4.029	0.24236	T	.	.	0.100	0.17275	B	.	.	0.228792	0.06102	2.547	0.90721081935473535	0.19971	0.00736	0.03080	N	AEFI	.	.	.	-0.908224819060857	0.10649	0.5098735	-1.16115700310104	0.06569	0.3166623	1.1032823498007E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.993	-1.99	0.07047	-0.184000	0.09693	.	.	0.311000	0.19140	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.4143:0.2666:0.3191	3.197	0.06241	982	0.03397	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	574.81	19	chr2	130464045	.	G	A	574.81	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.151;DP=132;ExcessHet=0;FS=0;InbreedingCoeff=0.0576;MLEAC=1;MLEAF=0.028;MQ=31.71;MQRankSum=0.837;QD=30.24;ReadPosRankSum=-1.042;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,14:15:0:0|1:130464045_G_A:585,0,0:130464045	17	0	1	1
chr2	130509105	130509105	C	0	exonic	POTEI	.	.	.	.	445	1073	3	0	1	4	0.001396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	1947.8	130	chr2	130509105	.	C	*	1947.8	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.661;DP=1433;ExcessHet=0.119;FS=2.63;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.028;MQ=49.4;MQRankSum=-0.039;QD=4.42;ReadPosRankSum=-0.374;SOR=0.488	GT:AD:DP:GQ:PL	0/1:131,153:284:99:2517,0,5037	17	0	1	1
chr2	130509151	130509151	G	0	exonic	POTEI	.	.	.	.	453	1059	7	0	3	10	0.00329412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2962.0	130	chr2	130509151	.	G	*	2962.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.45;DP=1320;ExcessHet=0.119;FS=11.692;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=40.7;MQRankSum=5.08;QD=6.3;ReadPosRankSum=-1.106;SOR=0.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:131,153:284:99:.:.:2517,0,5037:.	18	0	1	0
chr2	132646095	132646095	G	A	exonic	LYPD1	.	nonsynonymous SNV	LYPD1:NM_001077427:exon3:c.C220T:p.R74C,LYPD1:NM_001321235:exon3:c.C220T:p.R74C,LYPD1:NM_144586:exon3:c.C376T:p.R126C,LYPD1:NM_001321234:exon4:c.C424T:p.R142C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	.	0.0045	0.00419329	0.0013	0.0140	0.0008	0	0	3.069e-05	0	0.0005	0.0011643	180	154602	rs58347009	0.0005	0.0005	0.0005	0.0004	0.0149	0.0004	0.0004	0.0138	0.0134	0.0149	0.0004	0	0.0001	0	0.0026	6.595e-05	0.0008	0.0004	0.0039	0.0039	0.0038	0.0039	0.0135	0.0036	0.0035	0.0125	0.0122	0.0135	0	0.0010	0	0	0	0	0.0001	0.0024	0.0002	0.054	0.39097	T	0.179	0.29540	T	0.03	0.20002	B	0.004	0.10090	B	0.680023	0.06086	N	1.160310	1	0.08975	N	0	0.06538	N	-1.48	0.81150	T	-0.61	0.18042	N	0.147	0.14905	-0.8920	0.48758	T	0.134	0.44720	T	10	0.0043471456	0.00088	T	.	.	.	0.149	0.39377	.	.	0.406120066682	0.40223	0.6885819505860581	0.68798	0.515052659661	0.49424	0.276668488979	0.07032	T	0.054204	0.29658	T	-0.488192	0.00665	T	-0.462354	0.26343	T	0.00995597675578201	0.00132	T	0.432757	0.11926	T	0.053014606	0.09972	0.032820486	0.02076	0.053014606	0.09972	0.032820486	0.02076	-3.145	0.11820	T	.	.	0.097	0.17615	B	.;.	.;.	1.490723	0.19177	14.13	0.94574524982146857	0.25112	0.40899	0.26538	N	AEFDBHCIJ	0.153398	0.27825	N	-0.965707474711075	0.09343	0.4418082	-0.912399038843217	0.11801	0.603421	0.69024693654394	0.22580	0.706548	0.73137	0	0.573888	0.26702	0	0.584781	0.30282	0	0.714379	0.83352	0	.	.	5.55	2.75	0.31439	1.048000	0.29989	.	.	-0.117000	0.14459	0.063000	0.21864	0.924000	0.28388	0.410000	0.27006	0.2924:0.1192:0.4514:0.137	1.743	0.02778	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005187	0.000000	0.006793	0.006993	0.000000	0.043103	0.000000	0.000000	0.02632	1610.33	33	chr2	132646095	.	G	A	1610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.17;DP=739;ExcessHet=0;FS=2.414;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.041;SOR=0.94	GT:AD:DP:GQ:PL	0/1:59,57:116:99:1624,0,1380	18	0	1	0
chr2	140334515	140334515	T	G	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon79:c.A12161C:p.E4054A	.	432	1074	14	2	0	18	0.00831025	.	.	.	732776	LRP1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.206	0.0422532623378	0.0045	0.00219649	0.0035	0.0020	0.0022	0.0001	0.0011	0.0048	0.0035	0.0024	0.0034993	541	154602	rs79879036	0.0047	0.0048	0.0048	0.0047	0.0149	0.0046	0.0046	0.0124	0.0114	0.0019	0.0025	0.0151	0.0005	0.0010	0.0149	0.0051	0.0055	0.0024	0.0037	0.0037	0.0037	0.0037	0.0060	0.0035	0.0034	0.0050	0.0047	0.0017	0.0055	0.0060	0.0153	0.0004	0.0011	0.0068	0.0045	0.0057	0.0027	0.736	0.03741	T	0.224	0.25591	T	0.76	0.43524	P	0.484	0.47189	P	0.000008	0.62929	D	0.062767	0.983277	0.39994	D	0.695	0.17993	N	-3.68	0.95282	D	-0.33	0.12472	N	0.578	0.59986	-0.9041	0.47550	T	0.127	0.43442	T	10	0.009902418	0.00222	T	0.042253	0.60367	D	0.465	0.76089	.	.	0.268702046668	0.26493	0.774075906437719	0.77357	0.507590868077	0.48939	0.605115115643	0.53626	T	0.287376	0.66017	T	-0.187374	0.22644	T	-0.040421	0.67673	D	0.0300023271018627	0.01990	T	0.781022	0.41604	T	0.07963886	0.18206	0.06470844	0.13009	0.07963886	0.18205	0.06470844	0.13008	-9.669	0.71907	D	.	.	0.412	0.60259	A	.	.	3.469678	0.48398	22.6	0.98221350340564839	0.39307	0.96639	0.70156	D	AEFI	0.691520	0.65149	D	0.295540001995611	0.55922	3.756348	0.42177134061413	0.62922	4.51631	0.411530896176104	0.20216	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	5.757000	0.68422	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.1392:0.8608	12.491	0.55242	918	0.19598	.	.	.	.	.	.	Likely benign	0	0	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	0.009063	0.005051	0.009511	0.017544	0.000000	0.000000	0.018293	0.000000	0.02632	1536.33	34	chr2	140334515	.	T	G	1536.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.517;DP=746;ExcessHet=0;FS=4.561;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=0.302;SOR=0.385	GT:AD:DP:GQ:PL	0/1:54,65:119:99:1550,0,1432	18	0	1	0
chr2	156571251	156571251	C	G	exonic	GPD2	.	nonsynonymous SNV	GPD2:NM_000408:exon13:c.C1726G:p.L576V,GPD2:NM_001083112:exon13:c.C1726G:p.L576V	.	.	.	.	.	.	.	.	.	.	.	3199530	GPD2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00700418466134	0.0022	0.000998403	0.0006	0.0066	0.0002	0	0	0	0	0	0.0005175	80	154602	rs116790305	0.0002	0.0002	0.0002	0.0002	0.0058	0.0001	0.0001	0.0051	0.0049	0.0058	0.0002	0	0	0	0	1.08e-05	0.0003	1.161e-05	0.0016	0.0016	0.0015	0.0017	0.0056	0.0014	0.0014	0.0050	0.0048	0.0056	0	0.0002	0	0	0	0	1.47e-05	0.0014	0.0002	0.158	0.23905	T	0.192	0.28300	T	0.001	0.07471	B	0.008	0.13708	B	0.000001	0.62929	D	0.051659	0.977468	0.81001	D	1.385	0.34509	L	0.69	0.51714	T	0.32	0.03955	N	0.352	0.39457	-1.0513	0.14036	T	0.066	0.27087	T	10	0.006027341	0.00135	T	0.007004	0.18541	T	0.070	0.20419	.	.	0.647759520205	0.64484	0.5772806217060202	0.57657	0.235179819059	0.26047	0.67937785387	0.64179	T	0.09952	0.40442	T	-0.425551	0.01578	T	-0.381301	0.35571	T	0.0219124325408378	0.00899	T	0.985721	0.95129	D	0.10381369	0.24539	0.10759322	0.25905	0.10381369	0.24538	0.10759322	0.25904	-2.631	0.06742	T	.	.	0.106	0.19639	B	.;.;.;.	.;.;.;.	2.339699	0.29980	18.30	0.99004826052557415	0.50231	0.89799	0.50500	D	AEFBI	0.400176	0.47516	N	-0.175584066309398	0.34153	1.945986	-0.0170191989273381	0.38946	2.301905	0.146016325792606	0.17359	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	6.06	3.15	0.35301	2.880000	0.48228	-0.705000	0.07776	0.599000	0.40250	0.996000	0.39380	0.000000	0.08366	0.997000	0.79791	0.2703:0.5746:0.0:0.155	6.023	0.18869	872	0.31118	Alpha-glycerophosphate oxidase, C-terminal;Alpha-glycerophosphate oxidase, C-terminal;Alpha-glycerophosphate oxidase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1128.33	36	chr2	156571251	.	C	G	1128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.262;DP=790;ExcessHet=0;FS=0.826;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=1.21;SOR=0.796	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1142,0,1055	18	0	1	0
chr2	158345242	158345242	T	G	exonic	CCDC148	.	nonsynonymous SNV	CCDC148:NM_001301685:exon3:c.A224C:p.Q75P,CCDC148:NM_138803:exon3:c.A224C:p.Q75P	.	.	.	.	.	.	.	.	.	.	.	697096	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.221	.	.	0.0071885	0.0020	0.0229	0.0007	0	0	0	0	0	0.0019211	297	154602	rs4664950	0.0006	0.0006	0.0006	0.0005	0.0216	0.0006	0.0005	0.0203	0.0198	0.0216	0.0008	0	0	0	0.0002	2.519e-05	0.0012	3.48e-05	0.0064	0.0065	0.0071	0.0058	0.0224	0.0061	0.0060	0.0212	0.0208	0.0224	0	0.0021	0	0	0	0	8.823e-05	0.0052	0	0.019	0.61437	D	0.019	0.60972	D	0.997	0.70673	D	0.931	0.66596	D	.	.	.	.	0.943355	0.81001	D	2.39	0.68882	M	0.78	0.49358	T	-2.05	0.63901	N	0.67	0.72477	-0.5409	0.67129	T	0.266	0.63727	T	9	0.011478305	0.00251	T	.	.	.	0.221	0.51721	.	.	0.574465425021	0.57114	0.3899274742961576	0.38907	0.0473126783939	0.05155	0.361320465803	0.19579	T	0.026905	0.19814	T	-0.231459	0.16456	T	-0.0876659	0.64338	T	0.0274502270175645	0.01609	T	0.807119	0.45664	T	0.4214618	0.62189	0.42707235	0.66464	0.4214618	0.62190	0.42707235	0.66464	-5.669	0.44022	T	.	.	0.434	0.66407	A	.;.;.	.;.;.	3.667194	0.52131	23.2	0.99481891628277819	0.66959	0.87111	0.46553	D	AEFDGI	0.362749	0.45189	N	0.644660167200652	0.76024	6.410661	0.637057402361705	0.77651	6.720433	0.0834629968015133	0.15929	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	1.859000	0.39058	.	.	0.665000	0.62972	0.996000	0.39380	0.986000	0.30841	0.995000	0.73285	0.0:0.0:0.0:1.0	12.693	0.56355	829	0.39537	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	5115.85	258	chr2	158345242	.	T	G	5115.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.113;DP=1107;ExcessHet=0.119;FS=1.102;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=0.37;SOR=0.582	GT:AD:DP:GQ:PL	0/1:115,114:229:99:2513,0,2696	18	0	1	0
chr2	159282762	159282762	C	G	exonic	WDSUB1	.	nonsynonymous SNV	WDSUB1:NM_001128212:exon2:c.G308C:p.C103S,WDSUB1:NM_001128213:exon2:c.G308C:p.C103S,WDSUB1:NM_001307994:exon2:c.G308C:p.C103S,WDSUB1:NM_001330274:exon2:c.G308C:p.C103S,WDSUB1:NM_001330276:exon2:c.G308C:p.C103S,WDSUB1:NM_001330277:exon2:c.G47C:p.C16S,WDSUB1:NM_001330278:exon2:c.G308C:p.C103S,WDSUB1:NM_152528:exon2:c.G308C:p.C103S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.581	0.0497777982132	0.0008	.	0.0006	9.61e-05	0.0007	0	0	0.0009	0	0	0.0004981	77	154602	rs147091578	0.0007	0.0007	0.0008	0.0007	0.0010	0.0007	0.0007	0.0008	0.0008	0.0002	0.0010	0	0	0.0002	0	0.0008	0.0005	4.637e-05	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	0.0003	0	0.0007	0	0	0	0	0.0010	0.0005	0	0.004	0.68238	D	0.038	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	N	0.040834	1	0.81001	D	.	.	.	0.11	0.61208	T	-7.77	0.96269	D	0.886	0.89577	-0.3481	0.73608	T	0.336	0.70305	T	10	0.662606	0.70241	D	0.049778	0.63958	D	0.581	0.83137	0.766	0.89373	0.675970969783	0.67322	0.7880234304787089	0.78754	0.482050726966	0.47176	0.747820198536	0.74124	T	0.097775	0.40093	T	0.01225	0.53333	T	0.194379	0.82817	D	0.244885161519051	0.22642	T	0.807119	0.46084	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.785	0.76591	P	.;.;.;.;.	.;.;.;.;.	4.795419	0.77860	26.8	0.99394685909247826	0.62519	0.99308	0.94281	D	AEFDGBI	0.930123	0.91694	D	0.673579805887829	0.77903	6.764927	0.659533987429056	0.79323	7.058075	0.999999999999039	0.74766	0.706298	0.61202	0	0.658105	0.61773	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.6	4.72	0.59248	7.805000	0.84566	7.698000	0.66136	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8694:0.1306:0.0	16.563	0.84421	682	0.59757	WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1481.33	34	chr2	159282762	.	C	G	1481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.865;DP=726;ExcessHet=0;FS=1.807;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=-1.042;SOR=0.95	GT:AD:DP:GQ:PL	0/1:33,54:87:99:1495,0,842	18	0	1	0
chr2	166441505	166441505	C	T	exonic	SCN7A	.	nonsynonymous SNV	SCN7A:NM_002976:exon15:c.G2048A:p.R683Q	.	12	1470	39	1	0	41	0.0137538	.	.	.	99990	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.787	.	0.0031	0.00638978	0.0056	0.0007	0.0029	0	0	0.0039	0.0067	0.0224	0.0050517	781	154602	rs116825611	0.0037	0.0037	0.0031	0.0043	0.0206	0.0036	0.0036	0.0198	0.0195	0.0004	0.0023	0.0236	2.521e-05	0.0003	0.0115	0.0023	0.0045	0.0206	0.0026	0.0026	0.0027	0.0025	0.0203	0.0024	0.0023	0.0171	0.0159	0.0006	0	0.0012	0.0219	0	0.0002	0.0136	0.0024	0.0062	0.0203	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000110	0.50451	D	0.000000	0.999701	0.48408	D	1.595	0.40691	L	-4.29	0.97149	D	-3.94	0.73378	D	0.711	0.74462	1.026	0.97642	D	0.910	0.97012	D	10	0.013575166	0.00288	T	.	.	.	0.787	0.92948	.	.	0.986878801639	0.98673	0.7030954503724556	0.70250	0.271094702539	0.29633	0.438645839691	0.30392	T	0.738384	0.93955	D	0.0152406	0.53738	T	0.265372	0.86346	D	0.0222640236973209	0.00939	T	0.993421	0.97849	D	0.8230196	0.85424	0.73580307	0.84385	0.8230196	0.85425	0.73580307	0.84386	-7.754	0.59382	D	.	.	0.213	0.44501	B	.;.;.;.;.;.	.;.;.;.;.;.	4.937178	0.81443	27.6	0.99955698526693537	0.99975	0.98705	0.85807	D	AEFDI	0.951883	0.96684	D	0.589331314128678	0.72507	5.816814	0.554543455063248	0.71714	5.697109	0.999993935172976	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.79	4.79	0.60909	7.905000	0.86479	7.651000	0.63703	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:1.0:0.0:0.0	15.709	0.77370	539	0.73055	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011581	0.020202	0.014946	0.011696	0.000000	0.000000	0.009146	0.011364	0.02632	2701.33	34	chr2	166441505	.	C	T	2701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.807;DP=824;ExcessHet=0;FS=3.228;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.32;SOR=0.961	GT:AD:DP:GQ:PL	0/1:99,99:198:99:2715,0,2559	18	0	1	0
chr2	166903664	166903664	G	T	exonic	XIRP2	.	nonsynonymous SNV	XIRP2:NM_001079810:exon2:c.G182T:p.S61I,XIRP2:NM_001199143:exon2:c.G182T:p.S61I,XIRP2:NM_152381:exon2:c.G182T:p.S61I	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0689438744107	.	0.000399361	0.0006	0	8.77e-05	0	0	0	0.0011	0.0042	0.0004786	74	154602	rs535394458	0.0003	0.0003	0.0001	0.0004	0.0041	0.0002	0.0002	0.0038	0.0036	0	0	0	0	0	0.0003	0	0.0002	0.0041	0.0001	0.0001	5.141e-05	0.0002	0.0046	9.744e-05	8.258e-05	0.0031	0.0026	0	0	0	0	0	0	0	0	0	0.0046	0.004	0.68238	D	0.065	0.44702	T	0.904	0.49848	P	0.499	0.50587	P	.	.	.	.	1	0.08975	N	.	.	.	-1.35	0.80125	T	-1.51	0.36787	N	0.214	0.39052	-0.5762	0.65768	T	0.415	0.76211	T	8	0.010494888	0.00233	T	0.068944	0.70592	D	0.101	0.28911	0.265	0.21103	0.191931220699	0.18833	0.021634611875649874	0.02115	0.0859833665422	0.09713	0.27125826478	0.06306	T	.	.	.	-0.417785	0.01767	T	-0.373416	0.36491	T	0.095908029323736	0.11901	T	0.407359	0.10471	T	.	.	.	.	.	.	.	.	-4.63	0.32546	T	.	.	0.103	0.24226	B	.;.;.	.;.;.	3.193837	0.43402	21.7	0.98703048307391694	0.44939	0.06750	0.12772	N	AEFI	0.060950	0.11618	N	-0.535450513707735	0.20942	1.10776	-0.712627430154224	0.16647	0.8815981	1.6850468982265E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.97	0.444	0.15803	0.276000	0.18478	0.042000	0.13882	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.218:0.3671:0.4148:0.0	4.348	0.10576	272	0.89337	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2427.33	34	chr2	166903664	.	G	T	2427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.233;DP=784;ExcessHet=0;FS=10.227;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=2.77;SOR=0.265	GT:AD:DP:GQ:PL	0/1:67,92:159:99:2441,0,1798	18	0	1	0
chr2	168970082	168970082	T	C	exonic	ABCB11	.	nonsynonymous SNV	ABCB11:NM_003742:exon15:c.A1772G:p.N591S	Cholestasis, benign recurrent intrahepatic, 2, Autosomal recessive;Cholestasis, progressive familial intrahepatic 2, Autosomal recessive	1	1494	27	0	0	27	0.00895522	.	.	.	191668	not_specified|not_provided|Progressive_familial_intrahepatic_cholestasis_type_2	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011156,MedGen:C3489789,OMIM:601847,Orphanet:79304	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.291	.	0.0005	0.0309505	0.0158	0.0018	0.0007	0.0015	0	0.0001	0.0111	0.1122	0.013732	2123	154602	rs11568367	0.0068	0.0068	0.0037	0.0100	0.1081	0.0067	0.0067	0.1063	0.1055	0.0016	0.0002	0	0.0010	1.873e-05	0.0040	0.0001	0.0068	0.1081	0.0042	0.0042	0.0023	0.0061	0.1153	0.0039	0.0038	0.1074	0.1042	0.0014	0	0.0002	0	0.0012	0	0	7.36e-05	0.0019	0.1153	0.135	0.26192	T	0.2	0.27591	T	0.98	0.59353	D	0.883	0.62698	P	0.000000	0.84330	D	0.044538	1	0.81001	D	-0.67	0.02046	N	-0.6	0.71662	T	-0.84	0.22944	N	0.695	0.70000	-0.4305	0.71051	T	0.228	0.59346	T	10	0.0026473403	0.00041	T	.	.	.	0.291	0.61040	.	.	.	.	0.524109046432155	0.52334	0.510600942341	0.49165	0.542424082756	0.44788	T	0.153035	0.49370	T	-0.461527	0.00962	T	-0.348875	0.39334	T	0.017062296466863	0.00453	T	0.963704	0.86510	D	0.17271739	0.37979	0.18334891	0.41319	0.15815155	0.35596	0.16906022	0.38911	-5.47	0.41587	T	0.3565312259165439	0.45334	0.100	0.37501	B	.;.;.	.;.;.	4.004459	0.59035	24.1	0.99869880373179787	0.94726	0.92628	0.56160	D	AEFDBHCI	0.769332	0.70462	D	0.279990503235525	0.55134	3.677821	0.380140974523956	0.60340	4.220599	0.999999999963722	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.2	5.2	0.71720	6.269000	0.72536	4.241000	0.42707	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	15.033	0.71382	843	0.36859	ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase 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	0.012588	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.037879	0.05263	4833.83	33	chr2	168970082	.	T	C	4833.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.168;DP=1066;ExcessHet=0.119;FS=1.758;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.5;SOR=0.559	GT:AD:DP:GQ:PL	0/1:125,82:207:99:2185,0,3563	17	0	2	0
chr2	169307305	169307305	C	T	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon4:c.G403A:p.D135N	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	283583	Donnai-Barrow_syndrome|not_provided	MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.698	.	0.0017	0.000998403	0.0024	0.0038	8.649e-05	0.0015	0.0206	0.0014	0.0099	0.0002	0.0019793	306	154602	rs142594441	0.0011	0.0011	0.0012	0.0011	0.0043	0.0011	0.0011	0.0037	0.0035	0.0043	0.0003	0	0.0007	0.0218	0	0.0002	0.0013	0.0003	0.0031	0.0031	0.0021	0.0042	0.0037	0.0029	0.0028	0.0033	0.0031	0.0037	0	0.0003	0	0.0017	0.0258	0	0.0004	0.0005	0.0002	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.665	0.77964	M	-4.36	0.97317	D	-2.68	0.64710	D	0.735	0.73555	1.084	0.99014	D	0.954	0.98517	D	9	0.013331026	0.00283	T	.	.	.	0.698	0.89099	.	.	0.915887886028	0.91504	0.8613836590095767	0.86102	0.861664930379	0.68989	0.419243574142	0.27732	T	0.537545	0.89015	D	-0.120603	0.33026	T	0.053466	0.73813	D	0.0584209133659598	0.06918	T	0.957804	0.85835	D	0.63745034	0.74695	0.62446314	0.78113	0.6572696	0.75754	0.53442425	0.73098	-5.044	0.37314	T	.	.	0.174	0.46608	B	.;.;.	.;.;.	3.575810	0.50385	22.9	0.99886242326216323	0.96126	0.99203	0.92752	D	AEFI	0.778945	0.71130	D	0.528680605497761	0.68793	5.266365	0.398084566915532	0.61446	4.34487	0.999998937943014	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.25	5.25	0.73169	5.216000	0.65079	7.618000	0.62188	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.070000	0.16646	0.0:1.0:0.0:0.0	19.219	0.93775	874	0.30607	EGF-like domain;EGF-like domain;EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1461.33	35	chr2	169307305	.	C	T	1461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.53;DP=834;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.67;SOR=0.788	GT:AD:DP:GQ:PL	0/1:63,64:127:99:1475,0,1512	18	0	1	0
chr2	170466606	170466606	G	A	exonic	MYO3B	.	nonsynonymous SNV	MYO3B:NM_001083615:exon25:c.G2909A:p.R970Q,MYO3B:NM_138995:exon25:c.G2909A:p.R970Q	.	429	1086	6	0	1	7	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	0.0002	0.00159744	0.0009	0.0004	0.0025	0.0001	0	0.0008	0.0044	0.0007	0.0009314	144	154602	rs35169479	0.0008	0.0008	0.0007	0.0008	0.0142	0.0007	0.0007	0.0117	0.0108	0.0006	0.0028	0	7.557e-05	0	0.0142	0.0006	0.0019	0.0009	0.0011	0.0011	0.0011	0.0011	0.0057	0.0010	0.0009	0.0047	0.0044	0.0003	0	0.0057	0	0.0002	0	0.0170	0.0008	0.0028	0.0006	0.413	0.13610	T	0.659	0.06533	T	0.006	0.23190	B	0.002	0.17295	B	0.128727	0.18720	N	0.556293	0.998107	0.22348	N	1.125	0.28843	L	-2.2	0.86888	D	-1.24	0.31375	N	0.235	0.26837	-0.7834	0.56110	T	0.323	0.69143	T	10	0.008142799	0.00185	T	.	.	.	0.134	0.36365	.	.	0.808193943808	0.80639	0.17938255528870656	0.17857	0.0864879405707	0.09766	0.244054973125	0.03167	T	0.113048	0.68737	T	-0.380408	0.03097	T	-0.316872	0.42916	T	0.00468234962152995	0.00050	T	0.770523	0.41150	T	0.06649662	0.14312	0.058361154	0.10769	0.06649662	0.14312	0.058361154	0.10769	-7.359	0.56615	T	.	.	0.066	0.03773	B	.;.;.	.;.;.	1.236001	0.16311	12.46	0.98999556298753755	0.50127	0.23319	0.22037	N	AEFDBI	0.129214	0.24730	N	-0.551617342789493	0.20433	1.077107	-0.437994493513972	0.23891	1.305305	0.0109513059057003	0.12108	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.22	2.79	0.31792	0.464000	0.21700	0.163000	0.15428	-0.123000	0.13640	0.057000	0.21666	0.000000	0.08366	0.678000	0.33484	0.4281:0.0:0.5719:0.0	7.870	0.28723	281	0.88893	.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1658.33	35	chr2	170466606	.	G	A	1658.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.18;DP=760;ExcessHet=0;FS=3.444;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=0.017;SOR=1.024	GT:AD:DP:GQ:PL	0/1:54,59:113:99:1672,0,1205	18	0	1	0
chr2	170466665	170466665	C	T	exonic	MYO3B	.	nonsynonymous SNV	MYO3B:NM_001083615:exon25:c.C2968T:p.R990C,MYO3B:NM_138995:exon25:c.C2968T:p.R990C	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.254186200516	0.0023	0.000599042	0.0017	0.0006	0.0004	0	0.0009	0.0025	0.0011	0.0010	0.0017464	270	154602	rs34236931	0.0031	0.0031	0.0032	0.0030	0.0037	0.0030	0.0030	0.0036	0.0036	0.0004	0.0007	3.826e-05	0.0001	0.0017	0.0010	0.0037	0.0021	0.0013	0.0020	0.0020	0.0023	0.0017	0.0036	0.0018	0.0018	0.0033	0.0031	0.0007	0	0.0007	0	0	0.0012	0	0.0036	0.0010	0.0015	0.0	0.91255	D	0.026	0.55759	D	0.999	0.77913	D	0.967	0.71530	D	0.015499	0.28233	N	0.370135	0.999925	0.51308	D	2.125	0.59049	M	-0.87	0.74583	T	-6.43	0.91311	D	0.6	0.61849	0.030	0.82854	D	0.529	0.82487	D	10	0.034805417	0.01703	T	0.254186	0.89241	D	0.401	0.71479	.	.	0.890682411703	0.88960	0.6898158765870739	0.68921	0.48989108763	0.47742	0.258893281221	0.04759	T	0.278714	0.86089	T	-0.30382	0.08303	T	-0.211929	0.53511	T	0.0614848311045679	0.07400	T	0.967603	0.90930	D	0.4664482	0.65072	0.47311696	0.69458	0.4664482	0.65072	0.47311696	0.69459	-11.058	0.81890	D	.	.	0.160	0.35310	B	.;.;.	.;.;.	3.669155	0.52162	23.2	0.99924551658918237	0.98980	0.69000	0.34016	D	AEFBI	0.573766	0.57682	D	0.282619946123107	0.55266	3.690878	0.179657026851009	0.48733	3.085337	0.0070553516480583	0.11374	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.05	3.12	0.34986	1.225000	0.32154	0.904000	0.22573	-0.223000	0.07921	0.020000	0.19661	0.004000	0.18990	0.950000	0.49671	0.5436:0.4564:0.0:0.0	12.768	0.56781	281	0.88893	.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	884.33	35	chr2	170466665	.	C	T	884.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.06;DP=712;ExcessHet=0;FS=3.85;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=0.236;SOR=1.355	GT:AD:DP:GQ:PL	0/1:34,30:64:99:898,0,852	18	0	1	0
chr2	176107440	176107440	G	T	exonic	HOXD11	.	nonsynonymous SNV	HOXD11:NM_021192:exon1:c.G85T:p.A29S	.	358	1128	36	0	0	36	0.0157068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0006	0.00299521	0.0027	0	0.0004	0.0001	0.0005	0.0009	0.0069	0.0149	0.0021604	334	154602	rs149509317	0.0012	0.0012	0.0008	0.0016	0.0134	0.0012	0.0011	0.0128	0.0125	5.974e-05	0.0002	0.0051	0	0.0005	0.0099	0.0003	0.0015	0.0134	0.0009	0.0009	0.0006	0.0012	0.0149	0.0008	0.0007	0.0121	0.0111	0.0001	0	0.0003	0.0035	0	0.0008	0.0204	0.0005	0	0.0149	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.001	0.04355	B	0.123823	0.18903	U	0.279028	0.736799	0.29775	N	-0.865	0.01458	N	1.23	0.36872	T	1.7	0.00577	N	0.089	0.06720	-0.9750	0.36125	T	0.020	0.08500	T	10	0.0053617954	0.00118	T	.	.	.	0.079	0.23065	.	.	0.352476196916	0.34857	0.1524045203916383	0.15162	.	.	0.786069333553	0.79845	T	0.055075	0.29904	T	-0.610507	0.00126	T	-0.638051	0.09811	T	0.0383724460094429	0.03398	T	0.854215	0.54045	D	0.04982427	0.08905	0.056197006	0.09996	0.04982427	0.08905	0.056197006	0.09995	-3.976	0.23443	T	.	.	0.075	0.05317	B	.	.	3.357113	0.46327	22.3	0.92758743153326395	0.22268	0.87566	0.47147	D	AEFDGBHCI	0.149820	0.27399	N	-0.709866793387474	0.15744	0.796111	-0.470061119821844	0.22982	1.251077	0.999999278440789	0.74766	0.623204	0.39778	0	0.563428	0.19063	0	0.378051	0.06126	2	0.554799	0.18163	0	.	.	3.48	2.48	0.29194	3.401000	0.52348	4.527000	0.43710	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1546:0.4302:0.4152	5.517	0.16203	746	0.52331	Domain of unknown function DUF3528, homeobox protein, eukaryotic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007560	0.000000	0.005435	0.008772	0.000000	0.025862	0.003049	0.018939	0.02632	4001.33	39	chr2	176107440	.	G	T	4001.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=1021;ExcessHet=0;FS=3.982;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.461;SOR=0.739	GT:AD:DP:GQ:PL	0/1:187,171:358:99:4015,0,4189	18	0	1	0
chr2	178568643	178568643	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.C50294A:p.T16765N,TTN:NM_133432:exon155:c.C50669A:p.T16890N,TTN:NM_133437:exon155:c.C50870A:p.T16957N,TTN:NM_133378:exon275:c.C69785A:p.T23262N,TTN:NM_001256850:exon276:c.C72566A:p.T24189N,TTN:NM_001267550:exon326:c.C77489A:p.T25830N	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.0412474079624	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1475904379	6.844e-07	6.84e-07	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.38407	T	.	.	.	0.331	0.33259	B	0.351	0.42849	B	.	.	.	.	0.893777	0.36011	D	2.87	0.83286	M	-0.32	0.68181	T	-2.39	0.55983	N	0.319	0.53357	-0.0948	0.80218	T	0.358	0.72069	T	9	0.3081959	0.48317	T	0.041247	0.59822	D	0.245	0.55201	0.323	0.30387	0.372446077551	0.36852	.	.	0.201909423797	0.22604	0.391892790794	0.23936	T	.	.	.	-0.135673	0.30581	T	-0.332031	0.41244	T	0.310427351253235	0.25432	T	0.834417	0.50357	T	.	.	.	.	.	.	.	.	-6.712	0.51901	T	.	.	0.101	0.17700	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.229931	0.28468	17.81	0.87583848850786383	0.17333	0.97007	0.72153	D	AEFBI	0.885684	0.81641	D	0.394339844477854	0.61115	4.308363	0.461658015208815	0.65471	4.827757	0.999994336834995	0.74766	0.553676	0.25195	0	0.601575	0.49859	0	0.54472	0.12158	0	0.620846	0.47308	0	.	.	6.03	5.15	0.70287	5.625000	0.67446	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.1232:0.8768:0.0	17.576	0.87847	435	0.80441	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2027.33	98	chr2	178568643	.	G	T	2027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=2278;ExcessHet=0;FS=2.883;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=0.75;SOR=0.816	GT:AD:DP:GQ:PL	0/1:81,70:151:99:2041,0,2277	18	0	1	0
chr2	178802236	178802236	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001256850:exon3:c.C197T:p.T66M,TTN:NM_001267550:exon3:c.C197T:p.T66M,TTN:NM_003319:exon3:c.C197T:p.T66M,TTN:NM_133378:exon3:c.C197T:p.T66M,TTN:NM_133379:exon3:c.C197T:p.T66M,TTN:NM_133432:exon3:c.C197T:p.T66M,TTN:NM_133437:exon3:c.C197T:p.T66M	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	.	.	.	.	.	.	.	.	.	.	499789	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Hypertrophic_cardiomyopathy_9|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Cardiomyopathy	MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.124	0.0657148149623	7.7e-05	.	5.767e-05	0	0	0	0.0005	5.993e-05	0	0	4.53e-05	7	154602	rs372755739	4.652e-05	4.72e-05	5.173e-05	4.125e-05	0.0001	3.727e-05	3.411e-05	5.395e-05	4.042e-05	0	0	3.826e-05	0	0.0001	0	4.586e-05	1.656e-05	0.0001	3.943e-05	3.94e-05	2.57e-05	5.382e-05	7.349e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	0	0	0	0	0	9.423e-05	0	7.349e-05	0	0	0.401	0.12632	T	0.495	0.11371	T	0.014	0.29645	B	0.006	0.17295	B	.	.	.	.	0.982535	0.24956	N	.	.	.	-0.43	0.69657	T	-0.85	0.23156	N	0.297	0.37093	-0.8896	0.48969	T	0.214	0.57560	T	9	0.0671556	0.09317	T	0.065715	0.69661	D	0.124	0.34239	.	.	0.236890367714	0.23314	.	.	0.0878705355583	0.09920	0.201941877604	0.00515	T	.	.	.	-0.315913	0.07238	T	-0.48891	0.23506	T	0.00964201055597439	0.00125	T	0.750125	0.39028	T	.	.	.	.	.	.	.	.	-6.153	0.49775	T	.	.	0.072	0.04159	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.010852	0.13896	10.46	0.72860483964098388	0.10121	0.18212	0.20166	N	AEFBI	0.192848	0.31999	N	-0.959385433418334	0.09483	0.4490033	-0.958952796039051	0.10716	0.5414996	0.999733164857888	0.42341	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.74	-1.97	0.07091	-0.354000	0.07731	.	.	-0.892000	0.02379	0.139000	0.23489	0.000000	0.08366	0.761000	0.36181	0.6679:0.0:0.2151:0.1171	8.683	0.33382	365	0.84644	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1078.33	33	chr2	178802236	.	G	A	1078.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.87;DP=771;ExcessHet=0;FS=2.266;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.76;ReadPosRankSum=0.122;SOR=0.752	GT:AD:DP:GQ:PL	0/1:92,47:139:99:1092,0,2277	18	0	1	0
chr2	178855422	178855422	A	T	exonic	CCDC141	.	nonsynonymous SNV	CCDC141:NM_173648:exon19:c.T2985A:p.D995E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00713625890927	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160406402	6.85e-07	6.84e-07	0	1.377e-06	1.166e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.166e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.25457	T	0.474	0.12107	T	.	.	.	.	.	.	0.287130	0.14836	N	0.620505	0.980796	0.25086	N	.	.	.	1.42	0.33189	T	-1.8	0.42384	N	.	.	-1.0122	0.26228	T	0.047	0.19998	T	10	0.124570936	0.23662	T	0.007136	0.18924	T	0.011	0.01250	.	.	0.215869574891	0.21205	.	.	.	.	0.286740630865	0.08449	T	.	.	.	-0.314792	0.07332	T	-0.589323	0.13724	T	0.174302995204926	0.18868	T	0.483852	0.14720	T	.	.	.	.	.	.	.	.	-4.409	0.29679	T	.	.	0.142	0.31279	B	.;.	.;.	1.836510	0.23336	15.98	0.98780944943128846	0.46127	0.71548	0.35061	D	AEFDBIJ	0.278580	0.39283	N	-0.455059705837334	0.23569	1.266592	-0.309176119536091	0.27802	1.545284	0.979168076759836	0.29998	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.99	2.52	0.29514	1.280000	0.32807	.	.	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.954000	0.50415	0.7306:0.138:0.0:0.1314	8.368	0.31558	376	0.83959	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	751.33	38	chr2	178855422	.	A	T	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=699;ExcessHet=0;FS=1.885;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=-0.237;SOR=0.59	GT:AD:DP:GQ:PL	0/1:49,31:80:99:765,0,1199	18	0	1	0
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3235	1518.25	38	chr2	186504215	.	G	C	1518.25	.	AC=11;AF=0.324;AN=34;BaseQRankSum=1.56;DP=1053;ExcessHet=18.7922;FS=99.238;InbreedingCoeff=-0.634;MLEAC=12;MLEAF=0.353;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=1.93;SOR=10.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,29:59:99:.:.:256,0,187:.	6	0	11	2
chr2	189068016	189068016	G	A	exonic	COL5A2	.	nonsynonymous SNV	COL5A2:NM_000393:exon21:c.C1400T:p.P467L	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	.	.	.	.	.	.	0.0023	0.078	YES	140643	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome,_classic_type,_1|not_provided|Ehlers-Danlos_syndrome_type_7A|Ehlers-Danlos_syndrome,_classic_type,_2|not_specified	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MedGen:C3661900|MONDO:MONDO:0020521,MedGen:C3508773|MONDO:MONDO:0019568,MedGen:C0268336,OMIM:130010,Orphanet:287,Orphanet:90318|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.266	.	0.0117	0.00858626	0.0028	0.0310	0.0009	0	0	1.504e-05	0.0011	0.0001	0.0025291	391	154602	rs115570272	0.0009	0.0009	0.0011	0.0008	0.0324	0.0009	0.0009	0.0308	0.0302	0.0324	0.0012	0	2.52e-05	0	0.0012	8.283e-05	0.0019	6.957e-05	0.0092	0.0092	0.0097	0.0087	0.0313	0.0088	0.0086	0.0299	0.0294	0.0313	0	0.0045	0	0	0	0	0.0001	0.0099	0	0.359	0.11957	T	0.343	0.17857	T	0.0	0.02946	B	0.0	0.01387	B	0.418965	0.12896	N	0.690561	0.852468	0.35246	D	2.155	0.60227	M	-4.51	0.97672	D	-0.1	0.08495	N	0.085	0.06190	0.360	0.88496	D	0.679	0.88888	D	9	0.0141711235	0.00298	T	.	.	.	0.266	0.57999	.	.	0.574025660704	0.57070	0.06052584474761591	0.05992	0.409775159195	0.41788	0.430266231298	0.29244	T	0.256242	0.62713	T	-0.388952	0.02732	T	-0.307104	0.43970	T	0.00774569092025374	0.00090	T	0.749125	0.37025	T	0.021974063	0.00830	0.033092644	0.02149	0.02741783	0.01930	0.033740066	0.02318	-5.357	0.40504	T	0.061419244298593814	0.01752	0.059	0.00742	B	.;.	.;.	3.429509	0.47660	22.5	0.82028313204655778	0.13982	0.77225	0.37946	D	AEFBI	0.222185	0.34671	N	-0.279320758627153	0.29948	1.665359	-0.136273528018563	0.33941	1.946895	0.921508023880055	0.26674	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.74	3.94	0.44807	1.299000	0.33028	6.621000	0.56120	-0.106000	0.15538	0.948000	0.32982	1.000000	0.68203	0.947000	0.49155	0.2773:0.0:0.7227:0.0	9.142	0.36069	836	0.38045	.;.	.	.	.	.	.	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	0.003021	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1236.33	33	chr2	189068016	.	G	A	1236.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=699;ExcessHet=0;FS=0.951;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=-0.998;SOR=0.502	GT:AD:DP:GQ:PL	0/1:32,45:77:99:1250,0,666	18	0	1	0
chr2	189694986	189694986	A	C	exonic	ANKAR	.	nonsynonymous SNV	ANKAR:NM_001378068:exon6:c.A1313C:p.Y438S,ANKAR:NM_144708:exon6:c.A1313C:p.Y438S	.	.	.	.	.	.	.	.	.	.	.	707900	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.210	.	0.0059	0.00599042	0.0030	0.0300	0.0012	0	0	0.0001	0	9.397e-05	0.0016365	253	154602	rs115747871	0.0006	0.0006	0.0007	0.0006	0.0235	0.0006	0.0006	0.0221	0.0215	0.0235	0.0012	0	0	0	0.0010	1.424e-05	0.0013	1.585e-05	0.0063	0.0063	0.0066	0.0060	0.0220	0.0060	0.0058	0.0208	0.0203	0.0220	0	0.0022	0	0	0	0.0034	2.94e-05	0.0047	0	0.179	0.22053	T	0.087	0.40747	T	.	.	.	.	.	.	0.000210	0.47681	D	0.000000	0.976576	0.39288	D	2.535	0.73915	M	0.93	0.44065	T	-2.34	0.51811	N	0.731	0.75466	-0.9798	0.35048	T	0.092	0.34983	T	8	0.009079933	0.00205	T	.	.	.	0.210	0.50028	.	.	0.604032067404	0.60086	0.7337775217222232	0.73322	0.389124977791	0.40165	0.634785175323	0.57824	T	0.012424	0.10924	T	-0.389095	0.02726	T	-0.314099	0.43218	T	0.0417772622357799	0.04013	T	0.743326	0.36245	T	0.23123224	0.45891	0.23168594	0.48307	0.23123224	0.45892	0.23168594	0.48306	-3.007	0.10256	T	.	.	0.204	0.43032	B	.;.	.;.	4.259828	0.64723	24.7	0.98709483132765219	0.45025	0.92719	0.56379	D	AEFI	0.722690	0.67254	D	0.331616794068215	0.57778	3.946558	0.409317816603991	0.62146	4.425083	0.999778314649122	0.42865	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.92	5.92	0.95557	4.782000	0.62089	10.995000	0.84717	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	1.0:0.0:0.0:0.0	15.343	0.74023	778	0.48011	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003027	0.010204	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1560.33	34	chr2	189694986	.	A	C	1560.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.481;DP=736;ExcessHet=0;FS=0.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.742;SOR=0.831	GT:AD:DP:GQ:PL	0/1:59,58:117:99:1574,0,1579	18	0	1	0
chr2	197409865	197409865	C	T	exonic	SF3B1	.	nonsynonymous SNV	SF3B1:NM_012433:exon7:c.G809A:p.R270Q	Myelodysplastic syndrome, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.00644896034098	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1193846732	5.473e-06	5.472e-06	8.167e-06	2.75e-06	2.519e-05	2.35e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	2.519e-05	0	0	5.396e-06	1.656e-05	0	1.314e-05	1.313e-05	2.57e-05	0	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.205	0.20002	T	0.568	0.08870	T	0.762	0.43602	P	0.079	0.28749	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	.	.	.	-0.6	0.17834	N	0.513	0.54409	-0.9721	0.36755	T	0.110	0.39604	T	9	0.30997863	0.48480	T	0.006449	0.16985	T	0.255	0.56562	0.355	0.35571	0.477794650704	0.47409	0.7546275151382916	0.75409	1.3757722902	0.84659	0.879760444164	0.93928	D	0.184066	0.53661	T	-0.0582134	0.43188	T	-0.139868	0.60130	T	0.477124750614166	0.31792	T	0.954705	0.82752	D	0.14620176	0.33478	0.15289286	0.35952	0.14620176	0.33478	0.15289286	0.35951	-5.221	0.39155	T	.	.	0.135	0.29283	B	.	.	4.736527	0.76341	26.5	0.9987792482192821	0.95491	0.99007	0.89872	D	AEFDBI	0.904868	0.85568	D	0.282270636697575	0.55249	3.689138	0.408461516321125	0.62091	4.418861	0.999999987861622	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	7.816000	0.84708	5.970000	0.51981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.084	0.93177	630	0.65016	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1612.33	34	chr2	197409865	.	C	T	1612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.146;DP=754;ExcessHet=0;FS=1.497;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-1.604;SOR=0.529	GT:AD:DP:GQ:PL	0/1:63,64:127:99:1626,0,1512	18	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	5666.6	35	chr2	197523648	.	T	C	5666.6	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.356;DP=1595;ExcessHet=31.086;FS=383.252;InbreedingCoeff=-0.8661;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.863;SOR=12.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,50:125:99:.:.:567,0,1135:.	1	0	17	1
chr2	197805199	197805199	G	A	exonic	PLCL1	.	nonsynonymous SNV	PLCL1:NM_006226:exon1:c.G100A:p.V34M	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	0.00778754	0	.	.	.	.	.	.	.	0.0025357	66	26028	rs192178250	0.0005	0.0005	0.0006	0.0005	0.0214	0.0005	0.0005	0.0198	0.0192	0.0214	0.0017	0	0	0	0.0003	2.643e-05	0.0017	9.231e-05	0.0049	0.0049	0.0047	0.0051	0.0171	0.0046	0.0045	0.0161	0.0156	0.0171	0	0.0018	0	0	0	0.0034	2.942e-05	0.0024	0.0006	0.229	0.18371	T	0.151	0.32355	T	0.205	0.29827	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.28	0.17271	T	0.29	0.04161	N	0.104	0.08786	-0.9657	0.38073	T	0.003	0.00800	T	8	0.0028840005	0.00046	T	.	.	.	0.019	0.03383	.	.	0.0954503805726	0.09146	0.22882713779542208	0.22797	0.381205266977	0.39485	0.834799110889	0.87298	D	0.03924	0.25119	T	-0.680065	0.00048	T	-0.735363	0.04088	T	0.0712125768283407	0.08820	T	0.421058	0.11199	T	0.02915027	0.02365	0.044088382	0.05634	0.02915027	0.02364	0.044088382	0.05634	-6.489	0.50201	T	.	.	0.144	0.31683	B	.	.	1.233756	0.16288	12.44	0.90499371589837818	0.19756	0.05465	0.11345	N	AEFDBHCI	0.049768	0.08632	N	-0.940331666953462	0.09912	0.4712204	-0.975679341426421	0.10333	0.5197655	0.999956546819232	0.48110	0.495885	0.18260	0	0.491552	0.07993	0	0.608004	0.38603	0	0.492483	0.08430	1	.	.	4.02	0.702	0.17269	0.717000	0.25523	0.622000	0.20140	0.652000	0.53365	0.001000	0.13787	0.525000	0.25331	0.051000	0.15275	0.0:0.4299:0.383:0.1871	6.587	0.21819	661	0.61838	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002132	0.000000	0.000000	0.004386	0.000000	0.000000	0.012048	0.000000	0.02632	357.33	21	chr2	197805199	.	G	A	357.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.25;DP=574;ExcessHet=0;FS=6.1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=1.85;SOR=2.16	GT:AD:DP:GQ:PL	0/1:20,13:33:99:371,0,428	18	0	1	0
chr2	206311175	206311175	G	A	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.G6647A:p.R2216Q,ZDBF2:NM_001369654:exon6:c.G6647A:p.R2216Q,ZDBF2:NM_001285549:exon7:c.G6641A:p.R2214Q	.	.	.	.	.	.	.	.	.	.	.	2141940	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.020	0.00903135175223	0.0008	0.000199681	0.0002	0.0014	8.848e-05	0.0001	0	4.607e-05	0	0	0.0001358	21	154602	rs199913989	5.821e-05	5.814e-05	6.268e-05	5.37e-05	0.0008	4.815e-05	4.436e-05	0.0006	0.0005	0.0008	0.0002	0	2.519e-05	0	0.0002	3.329e-05	0.0001	0	0.0004	0.0004	0.0004	0.0003	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	6.539e-05	0	0	0	0	2.941e-05	0.0005	0	0.683	0.04391	T	1.0	0.01155	T	0.11	0.26188	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	0.455	0.12820	N	1.04	0.40218	T	-0.49	0.15578	N	0.032	0.00825	-0.9931	0.31801	T	0.025	0.10509	T	9	0.00885427	0.00200	T	0.009031	0.23774	T	0.020	0.03691	.	.	0.0716867268079	0.06686	0.01527991293841844	0.01483	0.0662787447715	0.07392	0.186038643122	0.00163	T	0.001799	0.09664	T	-0.639194	0.00084	T	-0.731468	0.04261	T	0.00160948908887804	0.00016	T	.	.	.	0.016969927	0.00236	0.033835385	0.02346	0.016969927	0.00235	0.033835385	0.02345	-4.122	0.25614	T	.	.	0.093	0.22861	B	.;.;.	.;.;.	0.291301	0.06675	3.178	0.50756490966493717	0.04440	0.04591	0.10243	N	AEFBHCI	0.030394	0.03052	N	-1.51757840228867	0.01734	0.07591269	-1.46309276587471	0.02653	0.1224337	2.30679412799277E-4	0.06048	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.46	-1.9	0.07248	-0.346000	0.07809	0.048000	0.13961	-0.135000	0.12811	0.002000	0.15269	0.200000	0.23563	0.228000	0.22680	0.511:0.2261:0.2629:0.0	6.739	0.22613	903	0.23940	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2023.33	34	chr2	206311175	.	G	A	2023.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=916;ExcessHet=0;FS=1.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.015;SOR=0.831	GT:AD:DP:GQ:PL	0/1:85,80:165:99:2037,0,2038	18	0	1	0
chr2	207613173	207613173	T	C	exonic	METTL21A	.	nonsynonymous SNV	METTL21A:NM_001127395:exon4:c.A530G:p.Y177C,METTL21A:NM_001330130:exon4:c.A530G:p.Y177C,METTL21A:NM_001330134:exon4:c.A530G:p.Y177C,METTL21A:NM_145280:exon4:c.A530G:p.Y177C,METTL21A:NM_001330137:exon5:c.A584G:p.Y195C	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	.	0.0078	0.0101837	0.0023	0.0251	0.0011	0	0	0.0001	0.0033	0	0.002335	361	154602	rs74546744	0.0008	0.0008	0.0009	0.0007	0.0273	0.0008	0.0007	0.0259	0.0253	0.0273	0.0012	0	0	0	0.0019	5.216e-05	0.0018	4.639e-05	0.0066	0.0067	0.0071	0.0062	0.0232	0.0063	0.0062	0.0220	0.0215	0.0232	0	0.0019	0	0	0	0	0.0001	0.0038	0	0.018	0.50676	D	0.039	0.51112	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.675	0.78361	M	2.24	0.17923	T	-4.34	0.79316	D	0.794	0.91505	-1.0288	0.20843	T	0.030	0.13111	T	10	0.009384215	0.00212	T	.	.	.	0.401	0.71479	.	.	0.608522253762	0.60537	0.6934842598315477	0.69289	0.903949664944	0.70762	0.707569956779	0.68241	T	0.055489	0.30020	T	-0.370173	0.03585	T	-0.28625	0.46161	T	0.027878916095944	0.01671	T	0.955704	0.83186	D	0.79629433	0.83670	0.67038846	0.80661	0.79629433	0.83672	0.67038846	0.80661	-13.032	0.89495	D	.	.	0.886	0.81864	P	.;.;.;.;.;.	.;.;.;.;.;.	5.240354	0.87974	29.4	0.99813267101530678	0.89708	0.99740	0.99109	D	AEFBI	0.918598	0.88790	D	0.837900098849827	0.88408	9.567359	0.786819922442525	0.88860	9.74443	0.999999859736415	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	7.621000	0.82276	7.640000	0.63152	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.760000	0.36145	0.0:0.0:0.0:1.0	15.516	0.75562	598	0.68232	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.016304	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	1878.33	130	chr2	207613173	.	T	C	1878.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.206;DP=2585;ExcessHet=0;FS=1.36;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.868;SOR=0.57	GT:AD:DP:GQ:PL	0/1:70,67:137:99:1892,0,1939	18	0	1	0
chr2	208325402	208325402	A	T	exonic	PIKFYVE	.	nonsynonymous SNV	PIKFYVE:NM_015040:exon20:c.A2591T:p.Y864F	Corneal fleck dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.009911424166	0.0002	0.000199681	4.948e-05	0.0004	8.678e-05	0	0	1.5e-05	0	0	4.53e-05	7	154602	rs147128074	2.941e-05	2.941e-05	3.131e-05	2.75e-05	0.0009	2.216e-05	1.97e-05	0.0007	0.0006	0.0009	4.473e-05	0	0	0	0.0003	1.799e-06	9.935e-05	0	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0001	0.0006	0.0005	0.0008	0	6.535e-05	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.992	0.80445	D	0.000002	0.62929	D	0.000000	0.999999	0.58761	D	1.585	0.39878	L	1.11	0.38883	T	-3.33	0.66206	D	0.59	0.61002	-0.7193	0.59497	T	0.235	0.60148	T	10	0.3010829	0.47652	T	0.009911	0.25811	T	0.310	0.63162	.	.	0.552154753999	0.54872	0.505905391395797	0.50512	0.937855584435	0.72103	0.685110509396	0.65003	T	0.82945	0.95912	D	-0.231707	0.16424	T	-0.206444	0.54035	T	0.399564567369157	0.28925	T	0.974903	0.91072	D	0.6279266	0.74187	0.4273489	0.66483	0.6279266	0.74189	0.4273489	0.66483	-10.313	0.75764	D	.	.	0.333	0.59738	B	.;.	.;.	4.393613	0.67831	25.1	0.98872550759387179	0.47667	0.99391	0.95423	D	AEFBI	0.873276	0.79555	D	0.794263625392438	0.85744	8.668878	0.798939704916221	0.89719	10.09258	0.999999997902098	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	9.246000	0.94587	11.286000	0.91899	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	16.382	0.83303	826	0.39940	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2096.33	36	chr2	208325402	.	A	T	2096.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.92;DP=826;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=1.73;SOR=0.673	GT:AD:DP:GQ:PL	0/1:65,74:139:99:2110,0,1728	18	0	1	0
chr2	214983804	214983804	T	C	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon21:c.A3271G:p.I1091V,ABCA12:NM_173076:exon29:c.A4225G:p.I1409V	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	0	1509	11	2	0	15	0.0049456	.	.	.	287732	not_specified|Congenital_ichthyosis_of_skin|Autosomal_recessive_congenital_ichthyosis_4B|not_provided	MedGen:CN169374|MedGen:C0020758|MONDO:MONDO:0009443,MedGen:C0598226,OMIM:242500,Orphanet:457|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.331	0.0411772193292	0.0062	0.00179712	0.0055	0.0012	0.0046	0	0.0021	0.0079	0.0088	0.0033	0.005401	835	154602	rs149610963	0.0084	0.0084	0.0086	0.0082	0.0097	0.0083	0.0082	0.0096	0.0095	0.0011	0.0049	0.0084	0	0.0015	0.0026	0.0097	0.0092	0.0033	0.0055	0.0055	0.0055	0.0055	0.0087	0.0052	0.0051	0.0081	0.0079	0.0017	0	0.0063	0.0069	0	0.0015	0.0034	0.0087	0.0076	0.0044	0.135	0.26192	T	0.102	0.38450	T	0.248	0.31148	B	0.209	0.37260	B	0.000363	0.45194	D	0.155094	0.736717	0.29775	N	0.575	0.15311	N	-3.32	0.93882	D	-0.79	0.21860	N	0.41	0.45520	-0.0305	0.81620	T	0.572	0.84517	D	10	0.01076436	0.00238	T	0.041177	0.59784	D	0.331	0.65325	.	.	0.802770121755	0.80093	0.687552841180615	0.68695	0.230498149656	0.25597	0.405340313911	0.25811	T	0.404933	0.76126	T	-0.279606	0.10710	T	-0.16773	0.57650	T	0.0196792639094943	0.00671	T	0.846715	0.52677	T	0.16701017	0.37072	0.07205103	0.15499	0.118723884	0.27966	0.07205103	0.15498	-7.374	0.56792	T	0.2953387131833016	0.39227	0.081	0.14108	B	.;.	.;.	3.232890	0.44098	21.9	0.99761482348184538	0.85091	0.95081	0.63368	D	AEFI	0.557885	0.56733	D	-0.0972708774498381	0.37512	2.183457	0.0909943623296094	0.44093	2.697873	0.0338175704230453	0.14124	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.06	4.9	0.63643	5.160000	0.64774	4.381000	0.43181	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.1305:0.8694	13.494	0.60868	864	0.32732	ABC transporter-like|ABC transporter-like|AAA+ ATPase 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	0.005539	0.010101	0.006793	0.000000	0.000000	0.008621	0.000000	0.007576	0.02632	1496.33	33	chr2	214983804	.	T	C	1496.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=730;ExcessHet=0;FS=0.693;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=1.91;SOR=0.781	GT:AD:DP:GQ:PL	0/1:57,60:117:99:1510,0,1273	18	0	1	0
chr2	218814578	218814578	C	T	exonic	CYP27A1	.	nonsynonymous SNV	CYP27A1:NM_000784:exon8:c.C1297T:p.R433W	Cerebrotendinous xanthomatosis, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	588145	CYP27A1-related_disorder|Cholestanol_storage_disease|Cardiovascular_phenotype|not_provided	.|MONDO:MONDO:0008948,MedGen:C0238052,OMIM:213700,Orphanet:909|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.580	0.182828030634	7.7e-05	0.000199681	0.0002	0	8.637e-05	0	0	0.0001	0	0.0013	0.0002005	31	154602	rs143002163	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0006	0.0006	5.974e-05	4.472e-05	0	2.519e-05	0	0.0010	0.0001	0.0002	0.0008	0.0001	0.0001	7.709e-05	0.0001	0.0008	6.507e-05	5.319e-05	0.0003	0.0002	2.406e-05	0	0	0	0	0	0	0.0001	0.0005	0.0008	0.002	0.72154	D	0.019	0.59159	D	1.0	0.90584	D	0.99	0.78936	D	0.001514	0.38793	N	0.252345	0.999987	0.54805	D	3.225	0.89467	M	-0.85	0.74371	T	-3.33	0.66206	D	0.536	0.56403	0.592	0.91791	D	0.683	0.89033	D	10	0.3845939	0.54445	T	0.182828	0.85646	D	0.580	0.83081	.	.	0.910976343166	0.91008	0.816549742780487	0.81610	0.724429857465	0.62389	0.409924387932	0.26446	T	0.807084	0.95139	D	-0.115579	0.33850	T	0.0107617	0.71032	D	0.35541138611328	0.27230	T	0.933807	0.75196	D	0.55894953	0.70452	0.5944135	0.76457	0.55894953	0.70453	0.5944135	0.76458	-10.241	0.75342	D	.	.	0.183	0.39748	B	.	.	4.450875	0.69188	25.3	0.99893037119489159	0.96666	0.72496	0.35482	D	AEFBI	0.920504	0.89258	D	0.544309856560189	0.69734	5.399516	0.391346872533874	0.61029	4.297661	0.999995437058502	0.74766	0.732398	0.92422	0	0.59043	0.45803	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.23	5.23	0.72570	1.507000	0.35365	2.782000	0.34741	0.599000	0.40250	0.021000	0.19753	1.000000	0.68203	0.430000	0.27449	0.0:1.0:0.0:0.0	17.780	0.88432	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	3340.33	37	chr2	218814578	.	C	T	3340.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.16;DP=917;ExcessHet=0;FS=4.193;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-1.437;SOR=0.514	GT:AD:DP:GQ:PL	0/1:133,123:256:99:3354,0,3223	18	0	1	0
chr2	219498187	219498187	T	G	exonic	SPEGNB	.	stoploss	SPEGNB:NM_001286811:exon4:c.T715G:p.X239G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	.	.	.	7.822e-05	0	0	0	0	0	0	0.0002	6.5e-06	1	154602	rs772147782	8.69e-07	2.736e-06	0	1.772e-06	1.315e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.315e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.02462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0775245	0.40117	T	-0.349135	0.39304	T	0.552219092845917	0.34561	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.035371	0.25873	16.92	0.76351426751172013	0.11433	0.98080	0.79428	D	AEFDGBHCI	.	.	.	0.0868039723423909	0.45848	2.834522	0.116321042200685	0.45383	2.802446	1.0	0.98316	0.199473	0.04044	0	0.170008	0.04002	0	0.215285	0.04585	0	0.088244	0.02422	0	0.953436	0.62768	5.18	5.18	0.71140	1.509000	0.35387	3.851000	0.40089	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	0.0:0.0:0.0:1.0	12.644	0.56085	101	0.95833	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1396.33	43	chr2	219498187	.	T	G	1396.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.121;DP=876;ExcessHet=0;FS=2.246;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=2.56;SOR=0.51	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,60:127:99:0|1:219498177_C_G:1410,0,1650:219498177	18	0	1	0
chr2	221426613	221426613	G	C	exonic	EPHA4	.	nonsynonymous SNV	EPHA4:NM_001304537:exon15:c.C2544G:p.N848K,EPHA4:NM_001363748:exon16:c.C2697G:p.N899K,EPHA4:NM_004438:exon16:c.C2697G:p.N899K,EPHA4:NM_001304536:exon17:c.C2697G:p.N899K	.	.	.	.	.	.	.	.	.	.	.	708074	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.098	.	0.0059	0.00539137	0.0017	0.0194	0.0010	0	0	1.599e-05	0	0	0.00152	235	154602	rs61731200	0.0005	0.0005	0.0006	0.0004	0.0191	0.0005	0.0005	0.0179	0.0174	0.0191	0.0010	0	0	0	0	6.297e-06	0.0010	0	0.0055	0.0056	0.0057	0.0054	0.0192	0.0052	0.0051	0.0181	0.0176	0.0192	0	0.0018	0	0	0	0	0.0001	0.0071	0	0.049	0.39820	D	0.149	0.32675	T	0.116	0.26475	B	0.023	0.19966	B	0.000004	0.62929	D	0.134765	0.999986	0.58761	D	1.525	0.38595	L	0.09	0.61443	T	-1.52	0.38540	N	0.373	0.53708	-0.9670	0.37814	T	0.071	0.29001	T	10	0.0076327324	0.00173	T	.	.	.	0.098	0.28162	0.35	0.34760	0.626125694583	0.62308	0.5202953512320242	0.51952	0.683800107588	0.60187	0.637767612934	0.58246	T	0.116349	0.43562	T	-0.482252	0.00717	T	-0.450562	0.27635	T	0.0195079748437686	0.00655	T	0.729327	0.34443	T	0.1725655	0.37954	0.1519014	0.35763	0.17972858	0.39059	0.13397172	0.32113	-10.726	0.78134	D	0.26829790525326136	0.36134	0.216	0.44999	B	.;.;.	.;.;.	2.644994	0.34426	19.62	0.99140659133879927	0.53518	0.98709	0.85857	D	AEFBI	0.589832	0.58656	D	-0.15402775142638	0.35064	2.009311	-0.0293113504821619	0.38397	2.261625	0.941779735721905	0.27492	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.77	1.98	0.25351	2.343000	0.43657	3.989000	0.40972	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.3186:0.0:0.6814:0.0	10.242	0.42497	920	0.19381	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	796.33	33	chr2	221426613	.	G	C	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=700;ExcessHet=0;FS=3.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.643;SOR=1.264	GT:AD:DP:GQ:PL	0/1:47,30:77:99:810,0,1295	18	0	1	0
chr2	222916332	222916332	A	G	exonic	ACSL3	.	nonsynonymous SNV	ACSL3:NM_001354159:exon3:c.A392G:p.Q131R,ACSL3:NM_001354158:exon4:c.A392G:p.Q131R,ACSL3:NM_203372:exon4:c.A392G:p.Q131R,ACSL3:NM_004457:exon5:c.A392G:p.Q131R	.	.	.	.	.	.	.	.	.	.	.	4109785	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.00549309144737	.	.	7.512e-05	0	0	0	0.0002	0.0001	0	0	5.82e-05	9	154602	rs765847576	2.752e-05	2.941e-05	3.423e-05	2.075e-05	2.075e-05	2.075e-05	1.827e-05	1.382e-05	1.154e-05	0	0	0	0	0.0002	0	2.075e-05	0.0001	0	2.628e-05	2.627e-05	5.138e-05	0	1.47e-05	8.14e-06	5.14e-06	.	.	0	0	0	0	0	0.0003	0	1.47e-05	0	0	0.061	0.37118	T	0.135	0.34124	T	0.0	0.02946	B	0.001	0.04355	B	0.546427	0.11481	N	0.821697	1	0.08975	N	-0.65	0.02095	N	1.07	0.39586	T	-1.5	0.36586	N	0.144	0.14480	-1.0374	0.18109	T	0.054	0.22921	T	10	0.09828007	0.17758	T	0.005493	0.14136	T	0.088	0.25558	0.516	0.61611	0.294470080753	0.29051	0.2922500914603254	0.29138	0.231541109432	0.25707	0.264913618565	0.05490	T	0.06525	0.32640	T	-0.444989	0.01209	T	-0.684636	0.06704	T	0.0818936824798584	0.10228	T	0.669433	0.27806	T	0.09306753	0.21850	0.111919045	0.27001	0.09306753	0.21849	0.111919045	0.27001	-6.949	0.53661	T	.	.	0.072	0.04238	B	.;.	.;.	1.635896	0.20880	14.95	0.98303441386693535	0.40068	0.24318	0.22356	N	AEFDBHCI	0.153440	0.27830	N	-0.534925481842864	0.20959	1.108745	-0.372937833405168	0.25807	1.421505	0.999999406201089	0.74766	0.743674	0.98306	0	0.630245	0.54622	0	0.630245	0.45026	0	0.584449	0.35598	0	.	.	5.22	4.06	0.46572	3.289000	0.51454	5.419000	0.48560	0.756000	0.94297	0.097000	0.22731	0.963000	0.29397	0.941000	0.48210	0.8494:0.0:0.1506:0.0	8.508	0.32362	927	0.17636	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	564.33	33	chr2	222916332	.	A	G	564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.112;DP=733;ExcessHet=0;FS=3.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=1.28;SOR=1.296	GT:AD:DP:GQ:PL	0/1:39,27:66:99:578,0,1032	18	0	1	0
chr2	224886510	224886510	C	A	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon5:c.G420T:p.K140N,DOCK10:NM_001363762:exon5:c.G477T:p.K159N,DOCK10:NM_014689:exon5:c.G438T:p.K146N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.0341860904586	0.0027	0.00239617	0.0007	0.0088	8.945e-05	0	0	0	0	0	0.0006792	105	154602	rs140831525	0.0002	0.0002	0.0003	0.0002	0.0094	0.0002	0.0002	0.0086	0.0083	0.0094	0.0003	0	0	0	0.0002	1.8e-06	0.0004	0	0.0025	0.0025	0.0026	0.0024	0.0088	0.0023	0.0022	0.0081	0.0078	0.0088	0	0.0009	0	0	0	0	2.945e-05	0	0	0.021	0.49117	D	0.075	0.45318	T	0.947	0.53479	P	0.711	0.54536	P	0.000001	0.84330	D	0.094573	0.981394	0.39772	D	2.415	0.69758	M	0.69	0.51714	T	-2.32	0.53096	N	0.438	0.50958	-0.6659	0.62013	T	0.191	0.54242	T	10	0.00823158	0.00187	T	0.034186	0.55504	D	0.217	0.51112	0.311	0.28451	0.588891999268	0.58564	0.35871174781886783	0.35785	0.561225617221	0.52626	0.654471039772	0.60621	T	0.150762	0.49039	T	-0.47056	0.00843	T	-0.442871	0.28487	T	0.0852691974348321	0.10647	T	0.915608	0.69895	D	0.5136367	0.67892	0.18863954	0.42165	0.5136367	0.67893	0.18863954	0.42165	-5.215	0.39336	T	.	.	0.590	0.70747	P	.;.;.	.;.;.	3.362315	0.46425	22.3	0.99743432416899025	0.83703	0.82980	0.42139	D	AEFDGBCIJ	0.645320	0.62126	D	0.371138825972088	0.59862	4.169502	0.35175928578643	0.58615	4.032944	0.999999998808905	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.547309	0.15389	0	0.677038	0.66255	0	.	.	5.69	4.55	0.55429	3.889000	0.55925	1.554000	0.27312	-0.181000	0.10308	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1544:0.0:0.8456	8.343	0.31416	878	0.29785	.;Dedicator of cytokinesis C/D, N-terminal;Dedicator of cytokinesis C/D, 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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1074.33	33	chr2	224886510	.	C	A	1074.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.546;DP=720;ExcessHet=0;FS=4.225;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.508;SOR=0.354	GT:AD:DP:GQ:PL	0/1:38,46:84:99:1088,0,979	18	0	1	0
chr2	231108762	231108762	C	G	exonic	HTR2B	.	nonsynonymous SNV	HTR2B:NM_000867:exon4:c.G1201C:p.A401P,HTR2B:NM_001320758:exon4:c.G1075C:p.A359P	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0107490978324	.	.	.	.	.	.	.	.	.	.	.	.	.	rs865839831	4.788e-06	4.788e-06	4.084e-06	5.5e-06	0.0010	1.99e-06	1.28e-06	0.0005	0.0003	0	0	0	0	0	0.0010	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.19225	T	0.148	0.32675	T	0.0	0.02946	B	0.002	0.06944	B	0.015550	0.28216	N	0.438760	1	0.30044	N	2.3	0.65703	M	1.25	0.36512	T	-0.37	0.13226	N	0.201	0.22228	-1.0500	0.14397	T	0.073	0.29610	T	10	0.14553341	0.27605	T	0.010749	0.27641	T	0.162	0.41843	0.558	0.67684	0.540062346617	0.53657	0.6489850348240542	0.64834	0.224907285127	0.25025	0.330766558647	0.15051	T	0.040672	0.25605	T	-0.12933	0.31603	T	-0.42355	0.30670	T	0.135751441121101	0.15904	T	0.812919	0.46506	T	0.07142994	0.15813	0.12929608	0.31092	0.07142994	0.15813	0.12929608	0.31091	-5.413	0.41044	T	.	.	0.094	0.14339	B	.	.	1.201739	0.15941	12.21	0.9761804795814939	0.34949	0.90642	0.51988	D	AEFBI	0.553206	0.56456	D	-0.473375758112996	0.22956	1.229367	-0.359051321061215	0.26230	1.44746	0.999877222834154	0.44625	0.562547	0.31514	0	0.546412	0.12157	0	0.572659	0.19721	0	0.635551	0.53088	0	.	.	5.9	4.11	0.47350	1.452000	0.34767	3.338000	0.37683	-0.182000	0.10109	0.878000	0.30948	0.998000	0.33993	0.412000	0.27050	0.0:0.7418:0.0:0.2582	8.185	0.30495	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.004076	0.008772	0.000000	0.008621	0.000000	0.000000	0.02632	2003.33	33	chr2	231108762	.	C	G	2003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.671;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.93;SOR=0.669	GT:AD:DP:GQ:PL	0/1:80,81:161:99:2017,0,2140	18	0	1	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	7129.64	35	chr2	232847517	.	A	*	7129.64	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-0.589;DP=2245;ExcessHet=1.0106;FS=0.551;InbreedingCoeff=0.0526;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.451;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,58:134:99:.:.:6350,3193,2958:.	6	3	10	0
chr2	233819939	233819939	C	T	exonic	MROH2A	.	nonsynonymous SNV	MROH2A:NM_001367507:exon31:c.C3395T:p.P1132L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	.	.	0.00459265	0.0014	0.0147	0.0040	0	0	0	0	0	0.0002652	41	154602	rs28900687	0.0003	0.0003	0.0003	0.0003	0.0098	0.0003	0.0003	0.0089	0.0085	0.0098	0.0004	0	2.838e-05	0	0.0023	2.996e-05	0.0010	2.559e-05	0.0032	0.0032	0.0033	0.0030	0.0112	0.0029	0.0028	0.0103	0.0100	0.0112	0	0.0006	0	0	0	0	8.822e-05	0.0009	0	0.018	0.50676	D	0.0	0.92824	D	.	.	.	.	.	.	0.000256	0.46924	U	0.000000	0.976283	0.39262	D	.	.	.	3.46	0.05249	T	-4.56	0.78636	D	0.307	0.35514	-1.1783	0.00395	T	0.021	0.09056	T	8	0.0077261627	0.00175	T	.	.	.	0.114	0.32008	.	.	0.304760801415	0.30091	0.26883527041753474	0.26796	2.46197207718E-4	0.00014	.	.	.	0.063596	0.32217	T	-0.53605	0.00354	T	-0.532387	0.19049	T	0.0499915897226269	0.05499	T	0.759324	0.38363	T	0.1117067	0.26396	0.133861	0.32090	0.1117067	0.26396	0.133861	0.32090	-7.328	0.56394	T	.	.	0.323	0.54747	B	.;.	.;.	3.942285	0.57693	23.9	0.99895305042565963	0.96819	0.55744	0.29941	D	AEFDBI	0.080512	0.16280	N	0.147088719646555	0.48675	3.076817	0.136220092102637	0.46417	2.887951	0.0621255060145731	0.15253	0.497415	0.19182	0	0.59043	0.45803	0	0.315538	0.05692	2	0.613276	0.41899	0	.	.	5.56	4.68	0.58319	1.054000	0.30064	3.786000	0.39810	0.533000	0.24879	0.731000	0.28933	0.999000	0.35428	0.358000	0.25841	0.0:0.9112:0.0:0.0888	10.768	0.45503	873	0.30802	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	907.33	34	chr2	233819939	.	C	T	907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=741;ExcessHet=0;FS=1.565;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=-1.057;SOR=0.871	GT:AD:DP:GQ:PL	0/1:73,40:113:99:921,0,1789	18	0	1	0
chr2	241816455	241816455	C	T	exonic	NEU4	.	nonsynonymous SNV	NEU4:NM_001167599:exon4:c.C901T:p.P301S,NEU4:NM_001167600:exon4:c.C862T:p.P288S,NEU4:NM_001167601:exon4:c.C862T:p.P288S,NEU4:NM_080741:exon4:c.C898T:p.P300S,NEU4:NM_001167602:exon5:c.C862T:p.P288S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00930186410867	.	.	4.769e-05	0	0	0	0	2.144e-05	0	0.0002	3.23e-05	5	154602	rs773964832	3.02e-05	3.01e-05	2.185e-05	3.865e-05	0.0004	2.289e-05	2.039e-05	0.0003	0.0002	0	6.753e-05	0	0	0	0	4.501e-06	8.308e-05	0.0004	5.908e-05	5.905e-05	6.423e-05	5.37e-05	0.0012	3.075e-05	2.208e-05	0.0005	0.0004	0	0	0	0	0	0	0	4.411e-05	0	0.0012	0.404	0.11732	T	0.473	0.12176	T	0.0	0.09854	B	0.002	0.06944	B	0.810845	0.06826	N	1.080770	1	0.08975	N	-0.095	0.04716	N	-0.9	0.75001	T	-0.23	0.10656	N	0.054	0.02759	-0.9881	0.33077	T	0.147	0.47237	T	10	0.043589383	0.03225	T	0.009302	0.24413	T	0.091	0.26358	0.236	0.16608	0.227934060464	0.22382	0.10555269316953661	0.10485	0.048125126839	0.05251	0.480133891106	0.36075	T	0.091187	0.38743	T	-0.382176	0.03019	T	-0.507311	0.21592	T	0.0232164041334594	0.01049	T	0.333267	0.07048	T	0.02059828	0.00624	0.036756348	0.03188	0.02059828	0.00623	0.036756348	0.03187	-4.53	0.31279	T	.	.	0.072	0.06803	B	.;.;.;.;.	.;.;.;.;.	-0.513280	0.01825	0.144	0.87551555166088302	0.17309	0.01789	0.05595	N	AEFDBCI	0.034600	0.04314	N	-1.2576931541822	0.04199	0.1890668	-1.28047593181022	0.04694	0.2220361	0.679599882872455	0.22463	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.04	-2.69	0.05668	-2.418000	0.01111	-2.581000	0.03584	-0.227000	0.07798	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2463:0.2989:0.1227:0.3321	0.648	0.00769	958	0.09170	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1022.33	47	chr2	241816455	.	C	T	1022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.833;DP=911;ExcessHet=0;FS=14.94;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.04;ReadPosRankSum=-0.039;SOR=0.781	GT:AD:DP:GQ:PL	0/1:21,39:60:99:1036,0,555	18	0	1	0
chr2	241816476	241816476	A	G	exonic	NEU4	.	nonsynonymous SNV	NEU4:NM_001167599:exon4:c.A922G:p.S308G,NEU4:NM_001167600:exon4:c.A883G:p.S295G,NEU4:NM_001167601:exon4:c.A883G:p.S295G,NEU4:NM_080741:exon4:c.A919G:p.S307G,NEU4:NM_001167602:exon5:c.A883G:p.S295G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00320228711533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.919e-06	1.026e-05	5.46e-06	1.241e-05	0.0001	4.98e-06	3.84e-06	5.424e-05	4.062e-05	2.991e-05	0	0	0	0	0	1.8e-06	1.661e-05	0.0001	4.598e-05	5.25e-05	2.57e-05	6.717e-05	0.0014	2.109e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.63	0.05152	T	0.43	0.14284	T	0.0	0.02946	B	0.0	0.01387	B	0.968589	0.07763	N	1.020000	1	0.08975	N	-0.805	0.01590	N	-1.0	0.76300	T	-0.04	0.07590	N	0.045	0.01740	-0.9987	0.30283	T	0.163	0.49947	T	10	0.030975044	0.01228	T	0.003202	0.07026	T	0.070	0.20419	0.182	0.09004	0.184867976434	0.18130	0.353710961905931	0.35285	0.0447857060935	0.04840	0.467198312283	0.34297	T	0.110011	0.42436	T	-0.218504	0.18198	T	-0.551643	0.17167	T	0.0508447838080135	0.05647	T	0.177382	0.01733	T	0.04740202	0.08094	0.028635297	0.01119	0.04740202	0.08094	0.028635297	0.01119	-2.968	0.10278	T	.	.	0.050	0.00148	B	.;.;.;.;.	.;.;.;.;.	-0.694503	0.01334	0.074	0.50123290972112178	0.04329	0.00813	0.03295	N	AEFDBCI	0.019585	0.00693	N	-1.55926295508529	0.01481	0.06465425	-1.60190587033389	0.01644	0.07460582	0.620727207979428	0.21882	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.07	-2.49	0.06034	-0.914000	0.04146	-0.301000	0.10115	-0.165000	0.11486	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5032:0.1941:0.3027:0.0	3.987	0.09010	958	0.09170	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1035.33	47	chr2	241816476	.	A	G	1035.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.09;DP=912;ExcessHet=0;FS=15.488;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.7;ReadPosRankSum=1.34;SOR=0.709	GT:AD:DP:GQ:PL	0/1:19,43:62:99:1049,0,446	18	0	1	0
chr3	3179687	3179687	T	C	exonic	CRBN	.	startloss	CRBN:NM_001173482:exon1:c.A1G:p.M1?,CRBN:NM_016302:exon1:c.A1G:p.M1?	Mental retardation, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.458	0.39147	P	0.678	0.59497	P	0.004774	0.33407	U	0.267510	0.999957	0.52396	D	.	.	.	.	.	.	-0.47	0.15178	N	0.965	0.97535	-0.2169	0.77234	T	0.392	0.74554	T	8	0.98231184	0.98303	D	0.845883	0.98810	D	0.418	0.72780	0.997	0.99969	0.497936662304	0.49429	0.5528459867060492	0.55210	.	.	.	.	.	0.023031	0.17650	T	0.564779	0.96331	D	0.573489	0.96271	D	0.998559892177582	0.94478	D	0.9	0.65058	D	0.92893285	0.94130	0.91543365	0.96075	0.92893285	0.94131	0.91543365	0.96076	-7.472	0.57413	T	.	.	.	.	.	.;.;.	.;.;.	3.409872	0.47294	22.4	0.98659034718467375	0.44303	0.17699	0.19950	N	ALL	0.036422	0.04851	N	0.220593970302776	0.52199	3.395504	0.212211933819376	0.50522	3.24356	1.0	0.98316	0.034631	0.00232	3	0.374146	0.05931	1	0.289072	0.05449	1	0.003489	0.00041	3	.	.	3.31	3.31	0.37025	4.185000	0.58128	4.548000	0.43792	0.603000	0.45986	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	11.287	0.48460	840	0.37365	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	876.33	57	chr3	3179687	.	T	C	876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.181;DP=796;ExcessHet=0;FS=2.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=-1.068;SOR=1.022	GT:AD:DP:GQ:PL	0/1:52,40:92:99:890,0,1261	18	0	1	0
chr3	10875078	10875078	C	T	exonic	SLC6A11	.	nonsynonymous SNV	SLC6A11:NM_014229:exon6:c.C874T:p.R292W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.854	0.440366199466	.	.	8.367e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs757531916	2.058e-06	2.736e-06	0	4.141e-06	1.165e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.803e-06	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.695	0.94570	H	-1.02	0.76300	T	-6.94	0.93440	D	0.906	0.90704	0.808	0.94510	D	0.758	0.91763	D	10	0.9395711	0.93283	D	0.440366	0.94153	D	0.854	0.95507	0.522	0.62518	0.94778359972	0.94723	0.7376326952781574	0.73708	1.57236916457	0.88220	0.817094027996	0.84582	D	0.656612	0.89643	D	0.377219	0.88529	D	0.304072	0.88384	D	0.997934460639954	0.92797	D	0.921608	0.71541	D	0.9368778	0.94930	0.9356959	0.97483	0.9368778	0.94930	0.9356959	0.97483	-13.761	0.92254	D	.	.	0.886	0.81827	P	.	.	5.145893	0.86174	28.8	0.99907812746027091	0.97801	0.91588	0.53843	D	AEFBI	0.619474	0.60489	D	0.784965397446847	0.85154	8.492952	0.657681819092726	0.79184	7.029054	0.939139748245901	0.27374	0.549168	0.22868	0	0.573888	0.26702	0	0.590023	0.30420	0	0.564101	0.26826	0	.	.	5.25	4.37	0.51830	2.566000	0.45611	2.163000	0.30996	0.549000	0.26987	0.996000	0.39380	1.000000	0.68203	0.933000	0.47100	0.143:0.857:0.0:0.0	15.037	0.71417	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1579.33	34	chr3	10875078	.	C	T	1579.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=769;ExcessHet=0;FS=0.654;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.201;SOR=0.758	GT:AD:DP:GQ:PL	0/1:74,63:137:99:1593,0,1732	18	0	1	0
chr3	33077148	33077148	-	TT	exonic	GLB1	.	frameshift insertion	GLB1:NM_001317040:exon2:c.164_165insAA:p.N56Rfs*64	GM1-gangliosidosis, type I, Autosomal recessive;GM1-gangliosidosis, type II, Autosomal recessive;GM1-gangliosidosis, type III, Autosomal recessive;Mucopolysaccharidosis type IVB (Morquio), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0019	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs747738770	4.029e-05	4.104e-05	4.426e-05	3.62e-05	0.0012	3.129e-05	2.833e-05	0.0009	0.0008	0.0012	3.072e-05	0	0	0	0.0002	9.845e-07	0.0002	2.554e-05	0.0004	0.0004	0.0004	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1242.29	34	chr3	33077148	.	C	CTT	1242.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=739;ExcessHet=0;FS=2.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-1.959;SOR=0.421	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,35:92:99:0|1:33077148_C_CTT:1256,0,2288:33077148	18	0	1	0
chr3	33077150	33077150	-	TACCTCTTT	exonic	GLB1	.	nonframeshift insertion	GLB1:NM_001317040:exon2:c.162_163insAAAGAGGTA:p.A54_P55insKEV	GM1-gangliosidosis, type I, Autosomal recessive;GM1-gangliosidosis, type II, Autosomal recessive;GM1-gangliosidosis, type III, Autosomal recessive;Mucopolysaccharidosis type IVB (Morquio), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0018	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs769579539	4.095e-05	4.104e-05	4.566e-05	3.61e-05	0.0013	3.194e-05	2.897e-05	0.0009	0.0008	0.0013	3.06e-05	0	0	0	0.0002	9.825e-07	0.0002	2.549e-05	0.0004	0.0004	0.0004	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1284.29	34	chr3	33077150	.	G	GTACCTCTTT	1284.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=740;ExcessHet=0;FS=2.776;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-1.481;SOR=0.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,36:93:99:0|1:33077148_C_CTT:1298,0,2285:33077148	18	0	1	0
chr3	33581928	33581928	G	A	exonic	CLASP2	.	nonsynonymous SNV	CLASP2:NM_001207044:exon17:c.C1541T:p.A514V,CLASP2:NM_001375715:exon17:c.C1541T:p.A514V,CLASP2:NM_001375716:exon17:c.C1562T:p.A521V,CLASP2:NM_001375718:exon17:c.C1559T:p.A520V,CLASP2:NM_001375720:exon17:c.C1541T:p.A514V,CLASP2:NM_001375713:exon20:c.C1901T:p.A634V,CLASP2:NM_001365630:exon21:c.C2198T:p.A733V,CLASP2:NM_001365633:exon21:c.C2201T:p.A734V,CLASP2:NM_001365634:exon21:c.C2198T:p.A733V,CLASP2:NM_001375703:exon21:c.C2201T:p.A734V,CLASP2:NM_001375705:exon21:c.C2198T:p.A733V,CLASP2:NM_001375697:exon22:c.C2216T:p.A739V,CLASP2:NM_001365627:exon23:c.C2240T:p.A747V,CLASP2:NM_001365628:exon23:c.C2243T:p.A748V,CLASP2:NM_001365629:exon23:c.C2240T:p.A747V,CLASP2:NM_001365631:exon23:c.C2240T:p.A747V,CLASP2:NM_001365632:exon23:c.C2240T:p.A747V,CLASP2:NM_001375694:exon23:c.C2240T:p.A747V,CLASP2:NM_001375701:exon23:c.C2243T:p.A748V,CLASP2:NM_015097:exon23:c.C2243T:p.A748V,CLASP2:NM_001375700:exon24:c.C2267T:p.A756V	.	.	.	.	.	.	.	.	0.9954	0.93	.	3948313	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.277	.	8.2e-05	.	3.605e-05	0.0002	0.0002	0	0	0	0	0	2.59e-05	4	154602	rs374516433	8.93e-06	8.894e-06	4.102e-06	1.38e-05	0.0002	4.98e-06	3.84e-06	0.0001	8.697e-05	0.0002	6.728e-05	0	0	0	0	0	3.323e-05	0	5.912e-05	5.909e-05	6.422e-05	5.378e-05	0.0002	3.077e-05	2.21e-05	0.0001	8.449e-05	0.0002	0	0	0	0	0	0	0	0	0	0.088	0.61437	T	0.026	0.59159	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	.	.	.	2.09	0.20122	T	-2.03	0.47344	N	0.845	0.84090	-1.1333	0.01631	T	0.109	0.39368	T	10	0.27238107	0.44782	T	0.027223	0.50054	D	0.277	0.59375	.	.	0.413703809202	0.40986	.	.	0.561187484419	0.52626	0.819673001766	0.84978	D	0.02298	0.22347	T	-0.11009	0.34752	T	-0.159244	0.58420	T	0.203284895717734	0.20596	T	0.963704	0.93196	D	.	.	.	.	.	.	.	.	-5.189	0.38830	T	.	.	0.272	0.56812	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.070435	0.84568	28.3	0.99888445776513657	0.96281	0.99781	0.99420	D	AEFDBI	0.925154	0.90426	D	0.705099201152979	0.79966	7.190994	0.773274302326348	0.87883	9.378036	0.999999999999999	0.74766	0.741868	0.97996	0	0.653731	0.59785	0	0.774882	0.98623	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	9.602000	0.97623	11.838000	0.97738	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	20.432	0.99087	308	0.87611	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	822.33	34	chr3	33581928	.	G	A	822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.181;DP=702;ExcessHet=0;FS=3.805;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.055;SOR=0.342	GT:AD:DP:GQ:PL	0/1:30,33:63:99:836,0,841	18	0	1	0
chr3	38274346	38274350	CACCC	-	exonic	SLC22A13	.	frameshift deletion	SLC22A13:NM_004256:exon2:c.453_457del:p.T152Hfs*36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	251.47	33	chr3	38274345	.	GCACCC	G	251.47	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.778;DP=1269;ExcessHet=0.3672;FS=140.054;InbreedingCoeff=-0.0851;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=2.67;SOR=9.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,34:223:99:0|1:38274345_GCACCC_G:223,0,7049:38274345	18	0	1	0
chr3	38274346	38274346	C	0	exonic	SLC22A13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	718.62	33	chr3	38274346	.	C	*	718.62	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.141;DP=1459;ExcessHet=0.7564;FS=180.085;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=3.59;SOR=10.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,34:223:99:0|1:38274345_GCACCC_G:223,0,7049:38274345	16	0	3	0
chr3	38274348	38274348	C	0	exonic	SLC22A13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	683.62	33	chr3	38274348	.	C	*	683.62	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.496;DP=1581;ExcessHet=0.7564;FS=190.832;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=3.52;SOR=10.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,34:223:99:0|1:38274345_GCACCC_G:223,0,7049:38274345	16	0	3	0
chr3	38274349	38274349	C	0	exonic	SLC22A13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1125.78	33	chr3	38274349	.	C	*	1125.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.758;DP=1445;ExcessHet=0.7564;FS=180.085;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.51;SOR=10.26	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,34:223:99:0|1:38274345_GCACCC_G:223,0,7049:38274345	18	0	1	0
chr3	38274350	38274350	-	TGGGG	exonic	SLC22A13	.	frameshift insertion	SLC22A13:NM_004256:exon2:c.457_458insTGGGG:p.M154Gfs*62	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	209.29	33	chr3	38274350	.	C	CTGGGG	209.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.96;DP=851;ExcessHet=0;FS=153.705;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=2.62;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,34:223:99:0|1:38274345_GCACCC_G:223,0,7049:38274345	18	0	1	0
chr3	40462029	40462032	ACTG	0	exonic	RPL14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	36694.9	59	chr3	40462029	.	ACTG	*	36694.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=1513;ExcessHet=0.0107;FS=0.848;InbreedingCoeff=0.4747;MLEAC=1;MLEAF=0.026;MQ=58.24;MQRankSum=-0.473;QD=31.34;ReadPosRankSum=0.299;SOR=0.537	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,39:83:99:1|0:40462027_GTAC_G:3325,1836,2187:40462027	18	0	1	0
chr3	45595343	45595343	C	T	exonic	LIMD1	.	nonsynonymous SNV	LIMD1:NM_014240:exon1:c.C464T:p.A155V	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0068760914447	7.7e-05	.	4.184e-05	0.0004	0	0	0	0	0	6.072e-05	3.23e-05	5	154602	rs371364321	1.848e-05	1.915e-05	1.498e-05	2.201e-05	0.0005	1.265e-05	1.085e-05	0.0003	0.0003	0.0005	0	0	0	0	0	3.597e-06	6.624e-05	2.319e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	6.544e-05	0	0	0	0	1.47e-05	0.0005	0	0.443	0.09182	T	0.425	0.13912	T	0.001	0.07471	B	0.001	0.04355	B	0.807245	0.06805	N	1.125660	1	0.08975	N	0.83	0.20963	L	0.43	0.56772	T	-0.59	0.17624	N	0.027	0.00571	-1.0596	0.11855	T	0.061	0.25310	T	10	0.031085908	0.01240	T	0.006876	0.18177	T	0.020	0.03691	.	.	0.40318662893	0.39936	0.09825966348604429	0.09756	0.121607008955	0.13703	0.291892766953	0.09198	T	0.080541	0.36388	T	-0.602294	0.00141	T	-0.745446	0.03666	T	0.00864784260270498	0.00106	T	0.584142	0.21248	T	0.029534759	0.02463	0.030930026	0.01613	0.029534759	0.02463	0.030930026	0.01612	-3.713	0.19510	T	.	.	0.084	0.09723	B	.;.	.;.	-0.158183	0.03310	0.575	0.83415865967854241	0.14714	0.05695	0.11615	N	ALL	0.046628	0.07764	N	-1.3585960831006	0.03037	0.1350335	-1.43915685150441	0.02869	0.1328135	0.999999993712322	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.493711	0.08198	1	0.638787	0.57140	0	.	.	4.22	-5.66	0.02255	-1.014000	0.03752	-1.971000	0.04412	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1113:0.1621:0.3508:0.3757	2.184	0.03644	607	0.67291	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1448.33	52	chr3	45595343	.	C	T	1448.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.733;DP=975;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.212;SOR=0.682	GT:AD:DP:GQ:PL	0/1:71,53:124:99:1462,0,1924	18	0	1	0
chr3	45771406	45771406	A	G	exonic	SLC6A20	.	nonsynonymous SNV	SLC6A20:NM_022405:exon5:c.T635C:p.F212S,SLC6A20:NM_001385683:exon6:c.T779C:p.F260S,SLC6A20:NM_020208:exon6:c.T746C:p.F249S	Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	0	1503	19	0	0	19	0.00628099	.	.	.	889023	Hyperglycinuria	Human_Phenotype_Ontology:HP:0002931,Human_Phenotype_Ontology:HP:0003108,MONDO:MONDO:0007677,MedGen:C0543541,OMIM:138500	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.920	0.344071105639	0.0006	0.00179712	0.0015	9.612e-05	0.0004	0	0	0.0005	0	0.0084	0.0012613	195	154602	rs147760034	0.0008	0.0008	0.0006	0.0010	0.0083	0.0008	0.0008	0.0078	0.0076	5.974e-05	0.0003	0	0	0	0.0033	0.0003	0.0009	0.0083	0.0006	0.0006	0.0004	0.0008	0.0079	0.0005	0.0004	0.0059	0.0052	9.616e-05	0	0.0008	0	0	0	0	0.0004	0.0005	0.0079	0.0	0.91255	D	0.0	0.92824	D	0.953	0.55554	P	0.736	0.59497	P	0.000000	0.84330	D	0.000000	0.999894	0.50595	D	4.11	0.97368	H	-1.47	0.81067	T	-7.63	0.95424	D	0.962	0.98167	0.682	0.92955	D	0.716	0.90265	D	10	0.025021076	0.00710	T	0.344071	0.92093	D	0.920	0.97965	.	.	0.954105210161	0.95361	0.9585109165606687	0.95836	1.04937305826	0.76093	0.783488988876	0.79454	T	0.555145	0.85008	D	0.0964946	0.63912	D	0.371522	0.91125	D	0.298189729416848	0.24929	T	0.945305	0.89432	D	0.98748904	0.99624	0.9782924	0.99771	0.98748904	0.99624	0.9782924	0.99771	-11.945	0.84582	D	.	.	0.870	0.87648	P	.;.;.;.	.;.;.;.	5.119404	0.85627	28.7	0.99850123942819768	0.92925	0.98271	0.81130	D	AEFBI	0.928166	0.91196	D	0.789230275273876	0.85425	8.572749	0.720608179672144	0.83942	8.156442	0.999999997023007	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.05	5.05	0.67566	7.255000	0.77760	10.777000	0.83733	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	14.791	0.69466	425	0.81160	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	2033.33	34	chr3	45771406	.	A	G	2033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.284;DP=788;ExcessHet=0;FS=0.631;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-1.229;SOR=0.812	GT:AD:DP:GQ:PL	0/1:70,78:148:99:2047,0,1883	18	0	1	0
chr3	47004218	47004218	C	T	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon36:c.C5921T:p.T1974M,NBEAL2:NM_015175:exon37:c.C6023T:p.T2008M	Gray platelet syndrome, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	889201	not_provided|Gray_platelet_syndrome	MedGen:C3661900|MONDO:MONDO:0007686,MedGen:C0272302,OMIM:139090,Orphanet:721	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.0332485287028	0.0010	0.000798722	0.0009	0.0003	0.0006	0	0.0002	0.0012	0	0.0012	0.0009638	149	154602	rs201015564	0.0016	0.0016	0.0017	0.0016	0.0023	0.0016	0.0016	0.0018	0.0018	2.987e-05	0.0007	0	5.038e-05	0.0003	0.0023	0.0019	0.0021	0.0013	0.0011	0.0011	0.0012	0.0009	0.0017	0.0009	0.0009	0.0015	0.0014	0.0003	0	0.0011	0	0	9.414e-05	0	0.0017	0.0024	0.0014	0.035	0.43708	D	.	.	.	0.347	0.33585	B	0.031	0.21939	B	0.775159	0.06621	N	1.125780	1	0.08975	N	0	0.06538	N	0.44	0.56609	T	-0.78	0.21644	N	0.135	0.13198	-1.0133	0.25880	T	0.091	0.34710	T	10	0.006426841	0.00146	T	0.033249	0.54847	D	0.030	0.07022	.	.	0.338449385132	0.33456	0.3284392821181768	0.32756	0.529839768189	0.50541	0.360432714224	0.19449	T	0.021793	0.16908	T	-0.473234	0.00812	T	-0.457471	0.26875	T	0.00670183427683428	0.00075	T	0.818018	0.47523	T	0.0146467015	0.00102	0.03717971	0.03315	0.0146467015	0.00102	0.03717971	0.03315	-5.19	0.38840	T	.	.	0.079	0.07507	B	.	.	2.076220	0.26402	17.11	0.905178321550418	0.19774	0.02565	0.07104	N	AEFBI	0.035809	0.04669	N	-1.091605840882	0.06796	0.3139196	-1.14067075634737	0.06936	0.3356137	0.999372563842687	0.39355	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.06	0.061	0.13653	0.984000	0.29163	3.721000	0.39586	-0.184000	0.09925	0.038000	0.20882	1.000000	0.68203	0.295000	0.24381	0.0912:0.5932:0.3156:0.0	9.735	0.39548	25	0.98345	PH-BEACH domain|PH-BEACH domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	3101.33	35	chr3	47004218	.	C	T	3101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=898;ExcessHet=0;FS=2.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.402;SOR=0.688	GT:AD:DP:GQ:PL	0/1:139,125:264:99:3115,0,3225	18	0	1	0
chr3	50375843	50375843	T	C	exonic	CACNA2D2	.	nonsynonymous SNV	CACNA2D2:NM_001005505:exon20:c.A1811G:p.K604R,CACNA2D2:NM_001174051:exon20:c.A1811G:p.K604R,CACNA2D2:NM_001291101:exon20:c.A1604G:p.K535R,CACNA2D2:NM_006030:exon20:c.A1811G:p.K604R	.	.	.	.	.	.	.	.	.	.	.	989694	Developmental_and_epileptic_encephalopathy	MONDO:MONDO:0100620,MedGen:C5779964	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.169	0.0136979103269	.	.	1.656e-05	0	0	0.0001	0	0	0	6.057e-05	1.29e-05	2	154602	rs767025665	8.9e-06	8.893e-06	1.226e-05	5.504e-06	6.956e-05	4.97e-06	3.83e-06	2.995e-05	2.038e-05	0	2.236e-05	0	0	0	0	2.698e-06	4.969e-05	6.956e-05	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.5	0.10623	T	0.674	0.06245	T	0.003	0.12183	B	0.011	0.16012	B	0.000808	0.41658	D	0.196935	0.961724	0.26875	N	-0.035	0.05024	N	-1.14	0.77843	T	-0.28	0.11728	N	0.228	0.25622	-0.9819	0.34561	T	0.155	0.48636	T	10	0.084077984	0.14054	T	0.013698	0.33301	T	0.169	0.43123	0.496	0.58520	0.161926535498	0.15789	0.6688133414222553	0.66819	0.393146132386	0.40487	0.376305580139	0.21732	T	0.007096	0.34833	T	-0.27748	0.10938	T	-0.454829	0.27166	T	0.238903194665909	0.22369	T	0.733627	0.34942	T	0.03040277	0.02698	0.037925053	0.03550	0.03040277	0.02698	0.037925053	0.03549	-4.931	0.36082	T	.	.	0.064	0.01810	B	.;.;.;.;.;.	.;.;.;.;.;.	1.087708	0.14711	11.26	0.97390264195632659	0.33721	0.13639	0.17969	N	AEFDGBHCI	0.080142	0.16200	N	-0.817710527228881	0.12857	0.6295158	-0.692606810557408	0.17145	0.9103401	0.999903638804757	0.45458	0.77792	0.99625	0	0.615948	0.52940	0	0.854111	0.99894	0	0.562822	0.20929	0	.	.	4.68	-0.436	0.11663	0.276000	0.18478	-0.291000	0.10192	0.665000	0.62972	0.982000	0.35529	0.026000	0.21063	0.999000	0.91618	0.0:0.4496:0.1413:0.4091	6.686	0.22333	2	0.99499	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3567.33	36	chr3	50375843	.	T	C	3567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.955;DP=900;ExcessHet=0;FS=0.926;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.063;SOR=0.773	GT:AD:DP:GQ:PL	0/1:126,146:272:99:3581,0,3499	18	0	1	0
chr3	57757682	57757682	C	T	exonic	SLMAP	.	nonsynonymous SNV	SLMAP:NM_001304421:exon1:c.C31T:p.R11C,SLMAP:NM_001304420:exon2:c.C31T:p.R11C,SLMAP:NM_001377538:exon2:c.C31T:p.R11C,SLMAP:NM_001377539:exon2:c.C31T:p.R11C,SLMAP:NM_001377540:exon2:c.C31T:p.R11C,SLMAP:NM_001377541:exon2:c.C31T:p.R11C,SLMAP:NM_001377542:exon2:c.C31T:p.R11C,SLMAP:NM_001377545:exon2:c.C31T:p.R11C,SLMAP:NM_001377549:exon2:c.C31T:p.R11C,SLMAP:NM_001377551:exon2:c.C31T:p.R11C,SLMAP:NM_001377552:exon2:c.C31T:p.R11C,SLMAP:NM_001377555:exon2:c.C31T:p.R11C,SLMAP:NM_001377557:exon2:c.C31T:p.R11C,SLMAP:NM_001377559:exon2:c.C31T:p.R11C,SLMAP:NM_001377562:exon2:c.C31T:p.R11C,SLMAP:NM_001377921:exon2:c.C31T:p.R11C,SLMAP:NM_001377922:exon2:c.C31T:p.R11C,SLMAP:NM_001377923:exon2:c.C31T:p.R11C,SLMAP:NM_001377924:exon2:c.C31T:p.R11C,SLMAP:NM_001377925:exon2:c.C31T:p.R11C,SLMAP:NM_007159:exon2:c.C31T:p.R11C	.	.	.	.	.	.	.	.	.	.	.	1398015	Brugada_syndrome	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.359	0.0388756163064	.	.	6.622e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs767298958	4.446e-05	4.583e-05	3.403e-05	5.5e-05	0.0007	3.575e-05	3.257e-05	0.0006	0.0005	0	0	0	0	1.872e-05	0	8.993e-07	4.967e-05	0.0007	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	0.091	0.32769	T	0.157	0.32461	T	0.614	0.57185	P	0.104	0.50152	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.125	0.08623	N	1.26	0.36330	T	-3.23	0.74193	D	0.788	0.82057	-1.0372	0.18171	T	0.102	0.37768	T	10	0.3568303	0.52413	T	0.038876	0.58482	D	0.359	0.67962	0.427	0.47350	0.408543089712	0.40467	0.8198830767564685	0.81945	2.4135721607	0.97228	0.868498802185	0.92353	D	0.62912	0.88482	D	-0.0496144	0.44507	T	0.0473333	0.73408	D	0.286468460330266	0.24442	T	0.990776	0.97178	D	0.5152423	0.67985	0.4536431	0.68226	0.5152423	0.67986	0.4536431	0.68226	-11.16	0.80528	D	.	.	0.811	0.77793	P	.;.;.;.;.	.;.;.;.;.	6.118468	0.94602	34	0.99456305206275908	0.65530	0.89665	0.50275	D	AEFDGBCI	0.935169	0.92962	D	0.395202105786051	0.61162	4.314	0.52449321865356	0.69644	5.389678	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	5.61	5.61	0.85347	7.856000	0.85294	6.004000	0.52535	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.627	0.95676	236	0.90801	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2275.33	37	chr3	57757682	.	C	T	2275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.638;DP=880;ExcessHet=0;FS=3.419;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.089;SOR=0.469	GT:AD:DP:GQ:PL	0/1:92,88:180:99:2289,0,2361	18	0	1	0
chr3	73062632	73062632	G	A	exonic	EBLN2	.	nonsynonymous SNV	EBLN2:NM_018029:exon1:c.G551A:p.R184H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00190026104022	.	.	1.657e-05	0	0	0.0001	0	1.499e-05	0	0	1.29e-05	2	154602	rs756862575	1.368e-05	1.368e-05	1.77e-05	9.627e-06	1.709e-05	8.94e-06	7.26e-06	1.093e-05	8.81e-06	0	0	0	0	0	0	1.709e-05	0	1.159e-05	6.572e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.157	0.23997	T	0.038	0.51421	D	0.026	0.19406	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	.	.	.	-1.24	0.31375	N	0.15	0.15328	-1.0454	0.15709	T	0.055	0.23072	T	7	0.075226426	0.11600	T	0.002	0.03351	T	0.024	0.04979	0.491	0.57732	0.0762999501168	0.06990	0.05327138773165531	0.05269	0.0141959289867	0.01355	0.39793369174	0.24781	T	0.002937	0.02330	T	-0.227161	0.17025	T	-0.548592	0.17461	T	0.0653155485113318	0.07977	T	0.442956	0.12306	T	0.04260299	0.06490	0.09110867	0.21402	0.04260299	0.06490	0.09110867	0.21401	-4.113	0.25481	T	.	.	0.151	0.33458	B	.	.	0.742911	0.11122	7.768	0.77041000023911199	0.11712	0.00964	0.03693	N	AEFBI	0.032255	0.03607	N	-1.33525438101969	0.03280	0.1462604	-1.43932839122989	0.02868	0.1327347	0.780095436815839	0.23826	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.491896	0.07777	0	.	.	0.468	-0.935	0.09893	0.365000	0.20076	-0.519000	0.08701	-0.377000	0.05411	0.266000	0.25007	0.000000	0.08366	0.006000	0.07323	.	.	.	843	0.36859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3362.33	150	chr3	73062632	.	G	A	3362.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.384;DP=2451;ExcessHet=0;FS=3.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.032;SOR=0.484	GT:AD:DP:GQ:PL	0/1:119,119:238:99:3376,0,3192	18	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	47576.4	207	chr3	75730451	.	T	G	47576.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.127;DP=2663;ExcessHet=48.2876;FS=6.146;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.47;MQRankSum=-6.987;QD=18.24;ReadPosRankSum=0.373;SOR=0.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,87:152:99:0|1:75730450_C_T:3457,0,2427:75730450	0	0	19	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1826.72	112	chr3	75730611	.	G	T	1826.72	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.712;DP=1498;ExcessHet=8.9063;FS=32.245;InbreedingCoeff=-0.4111;MLEAC=11;MLEAF=0.289;MQ=56.36;MQRankSum=-6.363;QD=2.05;ReadPosRankSum=-2.834;SOR=8.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,5:63:35:0|1:75730611_G_T:35,0,2351:75730611	8	0	11	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10260.0	245	chr3	75736884	.	G	GA	10260.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.122;DP=2735;ExcessHet=25.4433;FS=3.097;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=56.86;MQRankSum=-7.226;QD=4.72;ReadPosRankSum=0.758;SOR=0.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,21:136:99:.:.:201,0,4160:.	3	0	16	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	27506.3	251	chr3	75736891	.	G	A	27506.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.556;DP=2799;ExcessHet=38.2876;FS=3.537;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=56.93;MQRankSum=-8.927;QD=10.38;ReadPosRankSum=0.96;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,63:142:99:0|1:75736891_G_A:2367,0,3063:75736891	1	0	18	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25918.3	252	chr3	75736920	.	C	A	25918.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.21;DP=2877;ExcessHet=38.2876;FS=2.773;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=55.14;MQRankSum=-8.054;QD=9.41;ReadPosRankSum=0.484;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,61:142:99:0|1:75736891_G_A:2318,0,3218:75736891	1	0	18	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25991.3	253	chr3	75736928	.	C	T	25991.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=2.3;DP=2931;ExcessHet=38.2876;FS=1.988;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.62;MQRankSum=-7.88;QD=9.33;ReadPosRankSum=-0.059;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,59:143:99:0|1:75736891_G_A:2219,0,3350:75736891	1	0	18	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4444	14961.5	225	chr3	75736981	.	T	C	14961.5	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-1.026;DP=2892;ExcessHet=25.4433;FS=1.222;InbreedingCoeff=-0.7673;MLEAC=17;MLEAF=0.472;MQ=52.48;MQRankSum=-7.191;QD=6.18;ReadPosRankSum=-1.421;SOR=0.789	GT:AD:DP:GQ:PL	0/1:70,56:126:99:1440,0,1844	2	0	16	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	20724.0	217	chr3	75737012	.	C	T	20724.0	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-0.958;DP=3072;ExcessHet=31.086;FS=0.559;InbreedingCoeff=-0.8551;MLEAC=18;MLEAF=0.5;MQ=53.49;MQRankSum=-5.15;QD=7.81;ReadPosRankSum=-0.189;SOR=0.705	GT:AD:DP:GQ:PL	0/1:63,72:135:99:2006,0,1804	1	0	17	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	30914.3	256	chr3	75737060	.	A	G	30914.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.825;DP=3492;ExcessHet=48.2876;FS=0.535;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.88;MQRankSum=-5.378;QD=9.11;ReadPosRankSum=0.644;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,88:145:99:.:.:2260,0,2067:.	0	0	19	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52412.4	280	chr3	75737092	.	C	T	52412.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.868;DP=3617;ExcessHet=48.2876;FS=2.51;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.44;MQRankSum=-8.725;QD=14.68;ReadPosRankSum=2.04;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,89:155:99:0|1:75737092_C_T:3498,0,2503:75737092	0	0	19	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52218.4	279	chr3	75737094	.	T	A	52218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.675;DP=3606;ExcessHet=48.2876;FS=2.513;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.56;MQRankSum=-8.714;QD=14.56;ReadPosRankSum=1.95;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,90:156:99:0|1:75737092_C_T:3540,0,2500:75737092	0	0	19	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	51218.4	275	chr3	75737105	.	T	A	51218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.193;DP=3583;ExcessHet=48.2876;FS=3.337;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.97;MQRankSum=-9.931;QD=14.38;ReadPosRankSum=1.42;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,90:166:99:0|1:75737092_C_T:3550,0,2920:75737092	0	0	19	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	45019.4	258	chr3	75737127	.	A	C	45019.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.02;DP=3367;ExcessHet=48.2876;FS=6.221;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.5;MQRankSum=-10.9;QD=13.47;ReadPosRankSum=1.25;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,80:162:99:0|1:75737092_C_T:3112,0,3202:75737092	0	0	19	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28213.3	184	chr3	75737163	.	CCTACATTCT	C	28213.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.052;DP=2750;ExcessHet=48.2876;FS=12.118;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.71;MQRankSum=-10.76;QD=10.38;ReadPosRankSum=-0.785;SOR=1.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,51:140:99:0|1:75737092_C_T:1874,0,3574:75737092	0	0	19	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A,ZNF717:NM_001290208:exon5:c.A2395G:p.T799A,ZNF717:NM_001290209:exon5:c.A2245G:p.T749A	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	2269.04	121	chr3	75737228	.	T	C	2269.04	.	AC=12;AF=0.316;AN=38;BaseQRankSum=2.66;DP=2050;ExcessHet=11.1788;FS=19.091;InbreedingCoeff=-0.4377;MLEAC=11;MLEAF=0.289;MQ=57.49;MQRankSum=-8.916;QD=1.88;ReadPosRankSum=-2.183;SOR=2.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,15:99:99:0|1:75737228_T_C:370,0,3338:75737228	7	0	12	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	72208.4	197	chr3	75737519	.	G	A	72208.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.695;DP=3883;ExcessHet=48.2876;FS=4.051;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.16;MQRankSum=-6.49;QD=19.68;ReadPosRankSum=0.126;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,123:200:99:0|1:75737519_G_A:4671,0,2810:75737519	0	0	19	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	80980.4	254	chr3	75737590	.	A	G	80980.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.318;DP=4255;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.17;MQRankSum=-12.03;QD=19.35;ReadPosRankSum=0.753;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,128:223:99:0|1:75737586_A_T:5066,0,3592:75737586	0	0	19	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87211.4	273	chr3	75737608	.	T	C	87211.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.532;DP=4453;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.93;MQRankSum=-13.33;QD=19.71;ReadPosRankSum=0.507;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,136:233:99:0|1:75737586_A_T:5419,0,3664:75737586	0	0	19	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89860.4	289	chr3	75737622	.	T	A	89860.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.61;DP=4598;ExcessHet=48.2876;FS=0.515;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.36;MQRankSum=-13.02;QD=19.7;ReadPosRankSum=-0.634;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,143:242:99:0|1:75737586_A_T:5707,0,3727:75737586	0	0	19	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	88261.4	293	chr3	75737651	.	G	A	88261.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.6;DP=4568;ExcessHet=48.2876;FS=0.521;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.19;MQRankSum=-11.6;QD=19.54;ReadPosRankSum=-0.826;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,133:230:99:0|1:75737586_A_T:5293,0,3673:75737586	0	0	19	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	82829.4	287	chr3	75737676	.	A	T	82829.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.8;DP=4351;ExcessHet=48.2876;FS=2.445;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-9.984;QD=19.33;ReadPosRankSum=0.013;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,132:225:99:0|1:75737586_A_T:5263,0,3508:75737586	0	0	19	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	46731.8	276	chr3	75737840	.	C	T	46731.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.149;DP=4419;ExcessHet=31.086;FS=11.167;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=58.89;MQRankSum=-4.862;QD=12.26;ReadPosRankSum=-0.338;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,100:201:99:0|1:75737814_C_T:3851,0,3781:75737814	1	0	17	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	22517.3	279	chr3	75737881	.	T	C	22517.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.903;DP=3953;ExcessHet=38.2876;FS=17.658;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.41;MQRankSum=-7.695;QD=6.2;ReadPosRankSum=-4.196;SOR=1.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,59:163:99:0|1:75737881_T_C:1881,0,3961:75737881	1	0	18	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	17868.3	263	chr3	75737891	.	G	GAAAT	17868.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.54;DP=3685;ExcessHet=38.2876;FS=22.758;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.24;MQRankSum=-9.11;QD=5.14;ReadPosRankSum=-4.094;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,47:146:99:0|1:75737881_T_C:1568,0,3993:75737881	1	0	18	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	16790.3	259	chr3	75737893	.	A	ACTT	16790.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.064;DP=3615;ExcessHet=38.2876;FS=25.647;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.16;MQRankSum=-9.235;QD=4.92;ReadPosRankSum=-3.238;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,44:142:99:0|1:75737881_T_C:1507,0,3962:75737881	1	0	18	0
chr3	75737948	75737949	CT	-	exonic	ZNF717	.	frameshift deletion	ZNF717:NM_001128223:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290208:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290209:exon5:c.1524_1525del:p.E510Kfs*4,ZNF717:NM_001324027:exon5:c.1674_1675del:p.E560Kfs*4	.	376	813	333	0	0	333	0.169985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs74340838	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	0.0001	0	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	7.71e-05	0.0002	0.0003	8.659e-05	7.251e-05	0.0001	8.279e-05	4.816e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4037.35	240	chr3	75737947	.	CCT	C	4037.35	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.249;DP=3312;ExcessHet=2.0135;FS=24.339;InbreedingCoeff=-0.1874;MLEAC=6;MLEAF=0.158;MQ=57.02;MQRankSum=-11;QD=4.19;ReadPosRankSum=0.508;SOR=2.248	GT:AD:DP:GQ:PL	0/1:104,42:146:99:1443,0,4149	13	0	6	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	7392.86	342	chr3	75738008	.	C	T	7392.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-0.824;DP=3788;ExcessHet=11.1788;FS=6.856;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=57.27;MQRankSum=-12.06;QD=2.94;ReadPosRankSum=3.25;SOR=1.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,47:165:99:0|1:75737994_T_C:1600,0,4732:75737994	7	0	12	0
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	4997.0	314	chr3	75738053	.	C	A	4997.0	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-0.883;DP=3830;ExcessHet=6.9875;FS=5.735;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.278;MQ=57.27;MQRankSum=-11.01;QD=2.36;ReadPosRankSum=-1.823;SOR=1.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,37:148:99:0|1:75737994_T_C:1219,0,4549:75737994	8	0	10	1
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R,ZNF717:NM_001290208:exon5:c.T1552C:p.C518R,ZNF717:NM_001290209:exon5:c.T1402C:p.C468R,ZNF717:NM_001324027:exon5:c.T1552C:p.C518R	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1944	1843.57	302	chr3	75738071	.	A	G	1843.57	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-0.893;DP=3659;ExcessHet=2.9153;FS=8.947;InbreedingCoeff=-0.2447;MLEAC=7;MLEAF=0.194;MQ=57.68;MQRankSum=-9.963;QD=1.29;ReadPosRankSum=-1.839;SOR=1.806	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,27:139:99:0|1:75737994_T_C:797,0,4622:75737994	11	0	7	1
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C,ZNF717:NM_001290208:exon5:c.C1549T:p.R517C,ZNF717:NM_001290209:exon5:c.C1399T:p.R467C,ZNF717:NM_001324027:exon5:c.C1549T:p.R517C	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00168171448549	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022573	2.178e-05	2.351e-05	2.299e-05	2.052e-05	7.637e-05	1.515e-05	1.287e-05	2.05e-05	1.277e-05	7.382e-05	0	0	7.637e-05	0	0	1.914e-05	0	6.214e-05	1.314e-05	2.625e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.159	0.23813	T	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.06	0.07882	N	0.048	0.01999	-0.9892	0.32803	T	0.016	0.06569	T	9	0.03303978	0.01470	T	0.001682	0.02779	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.002613494462515561	0.00242	.	.	0.5004529953	0.38892	T	.	.	.	-0.277008	0.10988	T	-0.635679	0.09988	T	0.0130366375576749	0.00227	T	0.0907909	0.00672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.45520	B	.	.	0.194387	0.05799	2.242	0.73132658542385853	0.10218	0.00363	0.01856	N	AEFDBHCIJ	0.023887	0.01396	N	-1.62321359239289	0.01153	0.05010462	-1.76099622892232	0.00892	0.03989968	0.999989264977476	0.51787	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-2.248000	0.01271	.	.	-5.905000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.629:0.1528:0.2182:0.0	5.171	0.14438	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	1194.93	268	chr3	75738074	.	G	A	1194.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.911;DP=3462;ExcessHet=0.7564;FS=13.466;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=57.6;MQRankSum=-9.806;QD=1.67;ReadPosRankSum=-2.295;SOR=2.405	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,25:139:99:0|1:75737994_T_C:707,0,4712:75737994	14	0	4	1
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V,ZNF717:NM_001290208:exon5:c.T1546G:p.F516V,ZNF717:NM_001290209:exon5:c.T1396G:p.F466V,ZNF717:NM_001324027:exon5:c.T1546G:p.F516V	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.00436624551321	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78763958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.41750	T	-6.9	0.93293	D	0.254	0.28732	-0.7956	0.55403	T	0.314	0.68424	T	9	0.37955025	0.54090	T	0.004366	0.10624	T	0.273	0.58883	.	.	0.134241683229	0.13084	0.004951265273006765	0.00467	.	.	0.695522069931	0.66498	T	.	.	.	-0.0135903	0.49761	T	-0.257298	0.49093	T	0.969250798225403	0.68526	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.75417	P	.	.	2.832235	0.37339	20.5	0.96884311371509557	0.31473	0.34734	0.25137	N	AEFDBHCIJ	0.282251	0.39563	N	0.258654387862171	0.54069	3.573403	-0.0427249932617247	0.37806	2.218651	0.999999981817215	0.74766	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.91	1.91	0.24841	4.720000	0.61636	.	.	0.610000	0.48991	0.993000	0.37899	0.919000	0.28284	0.003000	0.05239	1.0:0.0:0.0:0.0	7.900	0.28894	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	969.93	268	chr3	75738077	.	A	C	969.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.037;DP=3428;ExcessHet=0.7564;FS=15.621;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=57.63;MQRankSum=-9.456;QD=1.39;ReadPosRankSum=-2.301;SOR=2.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,22:133:99:0|1:75737994_T_C:590,0,4595:75737994	14	0	4	1
chr3	75738100	75738100	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1523G:p.E508G,ZNF717:NM_001290208:exon5:c.A1523G:p.E508G,ZNF717:NM_001290209:exon5:c.A1373G:p.E458G,ZNF717:NM_001324027:exon5:c.A1523G:p.E508G	.	348	1167	7	0	0	7	0.00299018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00108464547182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	7.222e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	-4.64	0.79316	D	0.093	0.07262	-0.9647	0.38270	T	0.018	0.07518	T	9	0.0837622	0.13969	T	0.001085	0.01263	T	0.056	0.15993	.	.	0.0297737177859	0.01360	0.0024874068709695107	0.00230	.	.	0.391209244728	0.23840	T	.	.	.	-0.207823	0.19686	T	-0.5363	0.18662	T	0.836542546749115	0.49048	D	0.0133987	0.00072	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.43721	B	.	.	1.912526	0.24293	16.34	0.99674252685792053	0.78782	0.00841	0.03370	N	AEFDBHCIJ	0.042616	0.06635	N	-0.890987982149614	0.11055	0.5315283	-0.985280104525926	0.10115	0.5074318	0.999965122713944	0.48965	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.9	-1.16	0.09181	-0.659000	0.05423	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4643:0.1624:0.0:0.3733	2.211	0.03707	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	264.83	249	chr3	75738100	.	T	C	264.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.181;DP=3200;ExcessHet=0.119;FS=21.392;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.55;MQRankSum=-10.54;QD=1;ReadPosRankSum=-3.038;SOR=3.18	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,12:121:99:0|1:75737994_T_C:176,0,4541:75737994	17	0	2	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	5464.78	121	chr3	75739165	.	C	T	5464.78	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.906;DP=2470;ExcessHet=17.0548;FS=18.205;InbreedingCoeff=-0.6172;MLEAC=14;MLEAF=0.389;MQ=56.72;MQRankSum=-8.722;QD=3.04;ReadPosRankSum=-1.272;SOR=1.252	GT:AD:DP:GQ:PL	0/1:88,21:109:99:286,0,2673	4	0	14	1
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	11257.3	145	chr3	75739283	.	G	T	11257.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.77;DP=1751;ExcessHet=38.2876;FS=0.577;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.65;MQRankSum=-4.905;QD=6.85;ReadPosRankSum=0.657;SOR=0.786	GT:AD:DP:GQ:PL	0/1:44,32:76:99:703,0,1303	1	0	18	0
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3550.9	41	chr3	98133456	.	ACCCC	A	3550.9	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.085;DP=1915;ExcessHet=4.0268;FS=132.409;InbreedingCoeff=-0.2667;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=3.91;ReadPosRankSum=1.07;SOR=10.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,37:140:99:0|1:98133456_ACCCC_A:880,0,4118:98133456	14	0	5	0
chr3	98133457	98133457	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	412.34	59	chr3	98133457	.	C	*	412.34	.	AC=8;AF=0.364;AN=22;BaseQRankSum=-2.924;DP=1837;ExcessHet=5.3738;FS=137.077;InbreedingCoeff=-0.52;MLEAC=11;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=3.2;SOR=10.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,37:140:99:0|1:98133456_ACCCC_A:880,0,4118:98133456	3	0	8	8
chr3	98133459	98133459	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	378.48	59	chr3	98133459	.	C	*	378.48	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.973;DP=1809;ExcessHet=4.0268;FS=142.708;InbreedingCoeff=-0.4616;MLEAC=10;MLEAF=0.455;MQ=59.99;MQRankSum=0;QD=0.44;ReadPosRankSum=2.4;SOR=10.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,37:140:99:0|1:98133456_ACCCC_A:880,0,4118:98133456	4	0	7	8
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	4817.21	59	chr3	98133460	.	C	CGGGG	4817.21	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-0.619;DP=1799;ExcessHet=6.9875;FS=160.379;InbreedingCoeff=-0.5511;MLEAC=6;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=1.07;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,37:140:99:0|1:98133456_ACCCC_A:880,0,4118:98133456	7	0	5	7
chr3	98133463	98133463	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766G:p.L256V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00126498386421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.068	0.44106	T	0.005	0.12996	B	0.053	0.25678	B	0.261193	0.15311	N	0.542116	1	0.08975	N	0.915	0.23335	L	0.99	0.41750	T	-2.16	0.48850	N	0.126	0.11912	-1.0038	0.28814	T	0.079	0.31466	T	10	0.049896806	0.04644	T	0.001265	0.01708	T	0.026	0.05648	0.296	0.26041	0.128392430309	0.12331	0.03494044702375308	0.03441	0.301753269651	0.32506	0.278658390045	0.07306	T	0.006	0.05345	T	-0.262441	0.12617	T	-0.614755	0.11603	T	0.125886231660843	0.14996	T	0.469153	0.13854	T	0.1777599	0.38759	0.102822304	0.24655	0.1777599	0.38758	0.102822304	0.24654	-4.104	0.25349	T	.	.	0.129	0.31151	B	.;.	.;.	1.199857	0.15918	12.19	0.77165719573394564	0.11763	0.00876	0.03464	N	AEFI	0.031298	0.03314	N	-1.1071760963484	0.06514	0.3000934	-1.14194788532371	0.06913	0.3344078	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	2226.54	47	chr3	98133463	.	C	G	2226.54	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-4.732;DP=1356;ExcessHet=1.3;FS=121.465;InbreedingCoeff=-0.1665;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.706;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,37:138:99:0|1:98133456_ACCCC_A:886,0,4034:98133456	14	0	4	1
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3056	1558.48	47	chr3	100775333	.	T	C	1558.48	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-0.764;DP=760;ExcessHet=8.9063;FS=127.792;InbreedingCoeff=-0.4631;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.78;ReadPosRankSum=0.311;SOR=10.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,16:48:82:.:.:82,0,589:.	7	0	11	1
chr3	107377771	107377771	G	A	exonic	CCDC54	.	nonsynonymous SNV	CCDC54:NM_032600:exon1:c.G184A:p.G62R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	0.0081	0.00499201	0.0020	0.0222	0.0007	0	0	7.494e-05	0.0022	0	0.0018823	291	154602	rs116546605	0.0007	0.0007	0.0008	0.0006	0.0231	0.0006	0.0006	0.0217	0.0212	0.0231	0.0015	0	7.559e-05	1.872e-05	0.0009	3.597e-05	0.0014	0.0002	0.0064	0.0064	0.0065	0.0063	0.0219	0.0060	0.0059	0.0207	0.0203	0.0219	0	0.0025	0	0	9.434e-05	0	0.0001	0.0038	0.0004	0.096	0.31088	T	0.018	0.59732	D	0.17	0.28703	B	0.027	0.21085	B	0.130384	0.18660	N	0.441579	0.999995	0.08975	N	0	0.06538	N	0.84	0.47477	T	1.67	0.00599	N	0.201	0.22228	-1.0618	0.11312	T	0.030	0.12979	T	10	0.0035351217	0.00063	T	.	.	.	0.044	0.11924	0.162	0.06618	0.107399877778	0.10242	0.04046608837318997	0.03992	0.0465308909399	0.05060	0.295031487942	0.09662	T	0.002022	0.01432	T	-0.665765	0.00058	T	-0.711516	0.05218	T	0.0134037528383482	0.00243	T	0.284172	0.05010	T	0.028765023	0.02265	0.066893935	0.13764	0.028765023	0.02265	0.066893935	0.13764	-3.795	0.20730	T	.	.	0.095	0.14933	B	.	.	2.326665	0.29799	18.24	0.88973468746993489	0.18406	0.47105	0.27909	N	AEFDBI	0.122462	0.23761	N	-0.811495939471922	0.13016	0.6383349	-0.739208220942943	0.15987	0.8436074	0.0986880301957099	0.16311	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.54	1.74	0.23636	2.192000	0.42281	1.370000	0.25949	-0.825000	0.02924	0.987000	0.36337	0.831000	0.27213	0.000000	0.00833	0.3394:0.0:0.6606:0.0	7.921	0.29006	773	0.48803	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.007576	0.02632	2268.33	36	chr3	107377771	.	G	A	2268.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.38;DP=996;ExcessHet=0;FS=3.296;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.485;SOR=0.928	GT:AD:DP:GQ:PL	0/1:111,82:193:99:2282,0,2881	18	0	1	0
chr3	111885120	111885125	CCTGTG	-	exonic	PHLDB2	.	nonframeshift deletion	PHLDB2:NM_001134438:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_001134439:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_145753:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_001134437:exon3:c.1124_1129del:p.C376_A377del	.	426	1041	53	2	0	57	0.026648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.0061901	0.0067	0.0003	0.0016	0.0006	0.0002	0.0036	0.0066	0.0325	0.0006916	18	26028	rs562210962	0.0051	0.0051	0.0040	0.0061	0.0357	0.0050	0.0049	0.0347	0.0342	0.0006	0.0019	0.0004	0.0002	0.0002	0.0123	0.0034	0.0056	0.0357	0.0032	0.0032	0.0026	0.0039	0.0361	0.0030	0.0029	0.0317	0.0301	0.0006	0	0.0034	0	0.0008	0.0003	0.0068	0.0033	0.0028	0.0361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	10708.3	35	chr3	111885119	.	TCCTGTG	T	10708.3	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.892;DP=1198;ExcessHet=1.3;FS=0.524;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=0.653;SOR=0.697	GT:AD:DP:GQ:PL	0/1:69,58:127:99:2184,0,2697	14	0	5	0
chr3	112995145	112995145	A	G	exonic	GTPBP8	.	nonsynonymous SNV	GTPBP8:NM_138485:exon2:c.A347G:p.K116R,GTPBP8:NM_014170:exon3:c.A446G:p.K149R	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00772538363916	0.0028	0.00159744	0.0043	0.0008	0.0016	0	0.0039	0.0067	0.0011	0.0011	0.0042237	653	154602	rs148441248	0.0038	0.0039	0.0039	0.0037	0.0044	0.0037	0.0037	0.0043	0.0043	0.0007	0.0018	3.899e-05	0	0.0035	0.0016	0.0044	0.0037	0.0012	0.0032	0.0032	0.0034	0.0030	0.0047	0.0030	0.0029	0.0043	0.0042	0.0009	0.0230	0.0038	0	0	0.0034	0	0.0047	0.0043	0.0004	0.099	0.53172	T	0.207	0.34837	T	0.1	0.34593	B	0.107	0.38902	B	0.104350	0.19707	N	0.552717	0.838986	0.81001	D	0.05	0.08135	N	2.69	0.41392	T	-1.58	0.38151	N	0.368	0.47949	-1.0815	0.07060	T	0.055	0.23186	T	10	0.008291602	0.00188	T	0.007725	0.20483	T	0.068	0.19811	.	.	0.0551355673512	0.04727	0.5830510845061457	0.58234	0.106196479679	0.12011	0.562918543816	0.47679	T	0.007539	0.15507	T	-0.28076	0.10587	T	-0.170941	0.57356	T	0.0345167606473334	0.02725	T	0.918208	0.70605	D	0.07598313	0.17156	0.08414591	0.19334	0.07598313	0.17156	0.08414591	0.19334	-8.501	0.64436	D	.	.	0.109	0.20857	B	.;.;.;.	.;.;.;.	3.601940	0.50884	23.0	0.99865718969210548	0.94366	0.94828	0.62470	D	AEFBI	0.564716	0.57139	D	-0.0524318513382396	0.39495	2.32991	0.120097556906409	0.45577	2.818491	0.999998337406157	0.74766	0.732398	0.92422	0	0.627608	0.54475	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.72	4.57	0.55860	5.935000	0.69862	9.350000	0.80289	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9233:0.0:0.0767:0.0	10.555	0.44299	455	0.79073	GTP binding domain|EngB-type guanine nucleotide-binding (G) domain;.;GTP binding domain|EngB-type guanine nucleotide-binding (G) domain;GTP binding domain|EngB-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	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	1521.83	33	chr3	112995145	.	A	G	1521.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.449;DP=763;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.14;ReadPosRankSum=-0.506;SOR=0.655	GT:AD:DP:GQ:PL	0/1:60,33:93:99:687,0,1681	17	0	2	0
chr3	120781151	120781151	C	G	exonic	GTF2E1	.	nonsynonymous SNV	GTF2E1:NM_005513:exon5:c.C1001G:p.S334C	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0188425813202	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283384499	4.789e-06	4.788e-06	1.361e-06	8.251e-06	6.956e-05	1.99e-06	1.28e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	0	1.656e-05	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	0.984	0.60733	D	0.711	0.54536	P	0.000097	0.51296	D	0.171916	0.975131	0.39163	D	1.935	0.51832	L	0.81	0.48460	T	-1.91	0.44471	N	0.309	0.34874	-0.6941	0.60717	T	0.221	0.58447	T	10	0.32362658	0.49697	T	0.018843	0.41032	T	0.139	0.37390	0.309	0.28128	0.265735104816	0.26182	0.1274168819607243	0.12667	0.727438838198	0.62567	0.424802601337	0.28497	T	0.134669	0.46604	T	-0.171755	0.24968	T	-0.387636	0.34828	T	0.725161671638489	0.41961	D	0.690331	0.29972	T	0.16663258	0.37011	0.078439906	0.17569	0.16663258	0.37011	0.078439906	0.17569	-8.122	0.61899	D	.	.	0.111	0.21578	B	.	.	4.104713	0.61238	24.3	0.98536870089053197	0.42670	0.82546	0.41758	D	ALL	0.559365	0.56821	D	0.342621295570958	0.58351	4.006815	0.252968230714862	0.52819	3.454164	1.0	0.98316	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.548927	0.17530	0	.	.	5.39	5.39	0.77615	2.156000	0.41936	7.639000	0.63104	0.599000	0.40250	0.838000	0.30254	1.000000	0.68203	0.072000	0.16771	0.0:1.0:0.0:0.0	18.317	0.90164	317	0.87119	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2449.33	34	chr3	120781151	.	C	G	2449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.835;DP=817;ExcessHet=0;FS=0.6;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=0.619;SOR=0.611	GT:AD:DP:GQ:PL	0/1:68,94:162:99:2463,0,1624	18	0	1	0
chr3	122556070	122556070	T	C	exonic	PARP9	.	nonsynonymous SNV	PARP9:NM_001146102:exon4:c.A206G:p.N69S,PARP9:NM_001146103:exon4:c.A101G:p.N34S,PARP9:NM_001146104:exon4:c.A101G:p.N34S,PARP9:NM_001146105:exon4:c.A101G:p.N34S,PARP9:NM_001146106:exon4:c.A101G:p.N34S,PARP9:NM_031458:exon4:c.A206G:p.N69S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00424402260117	.	0.000599042	0.0004	0	0	0.0001	0	3.105e-05	0.0034	0.0026	0.0003363	52	154602	rs542919548	0.0002	0.0002	0.0001	0.0002	0.0023	0.0002	0.0001	0.0020	0.0019	0.0002	0	0	2.52e-05	0	0.0002	2.519e-05	0.0002	0.0023	0.0001	0.0001	7.824e-05	0.0002	0.0032	7.73e-05	6.408e-05	0.0019	0.0016	2.473e-05	0	0	0	0	0	0	2.954e-05	0	0.0032	0.229	0.18371	T	0.125	0.35330	T	0.003	0.11197	B	0.007	0.12992	B	0.696529	0.06177	N	1.152870	1	0.08975	N	0.55	0.14455	N	3.18	0.16492	T	-0.49	0.34992	N	0.065	0.03726	-0.9658	0.38053	T	0.025	0.10777	T	10	0.0042847097	0.00086	T	0.004244	0.10247	T	0.026	0.05648	.	.	0.181679512989	0.17746	0.07987606234235436	0.07922	0.113139730866	0.12771	0.311400592327	0.12118	T	0.002884	0.21469	T	-0.708683	0.00032	T	-0.796917	0.01981	T	0.0112288495264323	0.00165	T	0.642236	0.25428	T	0.017457724	0.00274	0.019132009	0.00078	0.017457724	0.00274	0.019132009	0.00078	-3.032	0.11586	T	.	.	0.060	0.01810	B	.;.;.;.;.	.;.;.;.;.	-0.430520	0.02102	0.197	0.44707284327176872	0.03457	0.11923	0.16948	N	AEFDBIJ	0.087373	0.17717	N	-1.06237845757352	0.07346	0.3409841	-1.06694172015145	0.08357	0.41058	0.997489634977208	0.35668	0.732398	0.92422	0	0.724815	0.89359	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.31	0.142	0.14111	-0.071000	0.11465	-0.998000	0.06656	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.0:0.3219:0.0:0.6781	8.252	0.30893	461	0.78683	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	944.33	36	chr3	122556070	.	T	C	944.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.486;DP=719;ExcessHet=0;FS=0.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-1.243;SOR=0.522	GT:AD:DP:GQ:PL	0/1:39,37:76:99:958,0,1021	18	0	1	0
chr3	123528394	123528394	C	T	exonic	HACD2	.	nonsynonymous SNV	HACD2:NM_001329786:exon3:c.G40A:p.V14I,HACD2:NM_001329787:exon4:c.G40A:p.V14I,HACD2:NM_198402:exon4:c.G373A:p.V125I,HACD2:NM_001329783:exon5:c.G442A:p.V148I,HACD2:NM_001329784:exon6:c.G94A:p.V32I	.	429	1091	2	0	0	2	0.000915751	.	.	.	2353980	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.00753305947364	0.0002	.	0.0001	0.0001	0.0005	0	0	0.0001	0	0	9.06e-05	14	154602	rs202187144	0.0001	0.0001	0.0001	0.0002	0.0054	0.0001	0.0001	0.0039	0.0034	0.0001	0.0006	0	0	0	0.0054	0.0001	0.0003	4.653e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.173e-05	6.728e-05	0.0001	8.877e-05	4.828e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0.0002	0.575	0.08559	T	0.581	0.08476	T	0.613	0.39753	P	0.172	0.35394	B	0.000006	0.62929	D	0.062067	0.999996	0.58761	D	0.24	0.09707	N	1.56	0.29602	T	-0.31	0.12661	N	0.369	0.41063	-1.0860	0.06227	T	0.046	0.19720	T	10	0.07929033	0.12737	T	0.007533	0.19979	T	0.083	0.24192	.	.	0.0675242888579	0.06100	0.46724219308350895	0.46643	0.660611883695	0.58878	0.628473460674	0.56928	T	0.00759	0.06987	T	-0.376745	0.03266	T	-0.444795	0.28273	T	0.0279592877366871	0.01683	T	0.788221	0.46890	T	0.065478735	0.13998	0.07296085	0.15800	0.065478735	0.13998	0.07296085	0.15800	-6.566	0.50793	T	.	.	0.135	0.29339	B	.;.	.;.	3.547479	0.49856	22.8	0.97872424511323142	0.36540	0.72571	0.35516	D	AEFBHCI	0.641725	0.61896	D	0.128755976651392	0.47808	3.001382	0.271933121642397	0.53906	3.557516	0.999999966736717	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.94	4.94	0.64645	5.805000	0.68809	5.934000	0.51367	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.428	0.74794	769	0.49307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.004076	0.020468	0.000000	0.017241	0.000000	0.000000	0.02632	964.33	33	chr3	123528394	.	C	T	964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=741;ExcessHet=0;FS=2.65;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-0.446;SOR=0.808	GT:AD:DP:GQ:PL	0/1:62,40:102:99:978,0,1425	18	0	1	0
chr3	124913597	124913597	A	T	exonic	MUC13	.	nonsynonymous SNV	MUC13:NM_033049:exon7:c.T1049A:p.L350Q	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.0852566408937	.	.	4.119e-05	0	8.637e-05	0	0	5.995e-05	0	0	3.23e-05	5	154602	rs757646115	4.241e-05	4.241e-05	4.628e-05	3.85e-05	0.0024	3.376e-05	3.065e-05	0.0015	0.0012	0	0.0002	0.0002	0	0	0.0024	1.888e-05	0.0002	0	6.563e-05	6.561e-05	6.421e-05	6.711e-05	0.0003	3.513e-05	2.613e-05	8.867e-05	5.28e-05	0	0	0.0003	0	0	0	0.0102	2.94e-05	0.0005	0	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	0.899217	0.07344	N	1.060720	1	0.08975	N	2.05	0.56469	M	.	.	.	.	.	.	0.445	0.48319	-0.2489	0.76389	T	0.726	0.90625	D	10	0.35813743	0.52513	T	0.085257	0.74496	D	.	.	.	.	0.502191834036	0.49857	0.9531813747419894	0.95302	.	.	0.320645570755	0.13519	T	0.087876	0.38038	T	-0.283721	0.10276	T	-0.334803	0.40931	T	0.114377364516258	0.13872	T	0.477152	0.14354	T	0.041387983	0.06086	0.067214295	0.13876	0.041387983	0.06086	0.067214295	0.13876	-8.354	0.63458	D	.	.	0.188	0.40441	B	.	.	1.911983	0.24286	16.34	0.98431601904851662	0.41409	0.04385	0.09965	N	AEFBI	0.069759	0.13821	N	-0.361976505017852	0.26835	1.467605	-0.584531248132694	0.19895	1.069537	0.936075388088772	0.27239	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.08	2.9	0.32809	0.815000	0.26910	1.201000	0.24837	-0.156000	0.11795	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7847:0.2153:0.0:0.0	7.686	0.27704	889	0.27310	EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.002924	0.050000	0.008621	0.000000	0.000000	0.02632	1685.33	39	chr3	124913597	.	A	T	1685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.474;DP=782;ExcessHet=0;FS=5.112;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-1.713;SOR=0.443	GT:AD:DP:GQ:PL	0/1:68,71:139:99:1699,0,1685	18	0	1	0
chr3	126536323	126536323	C	G	exonic	CHST13	.	nonsynonymous SNV	CHST13:NM_152889:exon2:c.C150G:p.S50R	.	432	1072	17	0	1	18	0.00786673	.	.	.	3297393	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.212	0.0654933683097	0.0008	0.000798722	0.0010	0.0006	0.0004	0	0	0.0014	0.0033	0.0011	0.001022	158	154602	rs147017058	0.0014	0.0014	0.0013	0.0015	0.0153	0.0013	0.0013	0.0127	0.0117	0.0009	0.0007	0.0029	0	0	0.0153	0.0015	0.0016	0.0011	0.0011	0.0011	0.0011	0.0011	0.0015	0.0010	0.0009	0.0013	0.0012	0.0004	0	0.0009	0.0032	0	0	0.0408	0.0015	0.0024	0.0010	0.003	0.68238	D	0.02	0.60337	D	0.999	0.77913	D	0.965	0.71173	D	0.077178	0.21120	N	0.450948	0.901504	0.27691	N	2.455	0.71248	M	-0.4	0.69287	T	-1.61	0.38734	N	0.525	0.55453	-0.6095	0.64424	T	0.346	0.71060	T	10	0.014990956	0.00315	T	0.065493	0.69595	D	0.212	0.50341	0.424	0.46857	0.683872430874	0.68117	0.9055490879127142	0.90527	1.8037777233	0.91694	0.504722952843	0.39487	T	0.007551	0.17550	T	-0.371903	0.03499	T	-0.347522	0.39488	T	0.0500039741012342	0.05501	T	0.79532	0.52582	T	0.13184346	0.30719	0.11423102	0.27574	0.13184346	0.30719	0.11423102	0.27573	-3.17	0.12117	T	.	.	0.634	0.74756	P	.;.	.;.	1.723463	0.21940	15.41	0.99120887092430421	0.52985	0.36346	0.25512	N	AEFBCI	0.165964	0.29251	N	-0.484961235902419	0.22573	1.206271	-0.743055200314894	0.15893	0.8381397	0.998146440410154	0.36487	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	3.03	-3.62	0.04251	-0.265000	0.08671	0.014000	0.13486	-0.341000	0.05685	0.933000	0.32380	0.962000	0.29361	0.224000	0.22571	0.0:0.6675:0.0:0.3325	9.821	0.40049	840	0.37365	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1435.33	41	chr3	126536323	.	C	G	1435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.67;DP=761;ExcessHet=0;FS=1.487;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-1.104;SOR=0.865	GT:AD:DP:GQ:PL	0/1:65,51:116:99:1449,0,1548	18	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2855.05	66	chr3	128055734	.	T	C	2855.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.098;DP=1413;ExcessHet=25.4433;FS=109.351;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.13;SOR=11.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,21:67:99:.:.:118,0,826:.	3	0	16	0
chr3	128945414	128945414	C	G	exonic	CFAP92	.	nonsynonymous SNV	CFAP92:NM_001348520:exon9:c.G1042C:p.A348P,CFAP92:NM_001348521:exon10:c.G946C:p.A316P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.0112914448186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018505	0.27466	N	0.418229	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9581	0.39534	T	0.180	0.52629	T	9	0.56930995	0.65229	D	0.011291	0.28764	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101624	0.64467	D	-0.0918	0.64025	T	0.901576936244965	0.55433	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.665	0.71546	P	.	.	2.395990	0.30777	18.54	0.9950951466453084	0.68558	0.16766	0.19539	N	AEFDBI	0.315815	0.42028	N	-0.122629368680982	0.36408	2.104076	-0.340690527300127	0.26797	1.482594	0.00153027157235599	0.08613	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.8	1.68	0.23219	0.441000	0.21325	0.224000	0.16109	-0.257000	0.07002	0.071000	0.22100	0.007000	0.19602	0.114000	0.18915	0.1269:0.5816:0.1244:0.167	4.127	0.09602	605	0.67457	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1747.33	33	chr3	128945414	.	C	G	1747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.142;DP=914;ExcessHet=0;FS=2.227;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=2.4;SOR=0.797	GT:AD:DP:GQ:PL	0/1:62,67:129:99:1761,0,1530	18	0	1	0
chr3	129431542	129431542	C	G	exonic	MBD4	.	nonsynonymous SNV	MBD4:NM_001276273:exon7:c.G748C:p.D250H,MBD4:NM_001276270:exon8:c.G1684C:p.D562H,MBD4:NM_003925:exon8:c.G1702C:p.D568H	.	424	1065	32	1	0	34	0.0157116	.	.	.	215269	not_specified|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.178	.	0.0044	0.00419329	0.0054	0.0012	0.0041	0	0.0005	0.0062	0.0110	0.0101	0.001022	158	154602	rs2307293	0.0074	0.0074	0.0072	0.0076	0.0110	0.0073	0.0072	0.0104	0.0102	0.0013	0.0034	0.0083	2.521e-05	0.0005	0.0068	0.0080	0.0078	0.0110	0.0052	0.0052	0.0056	0.0049	0.0118	0.0049	0.0048	0.0094	0.0085	0.0011	0.0307	0.0048	0.0104	0.0002	0.0005	0.0068	0.0078	0.0085	0.0118	0.005	0.68238	D	0.03	0.54159	D	0.997	0.73220	D	0.957	0.75793	D	0.000069	0.52346	D	0.164390	0.963902	0.81001	D	1.905	0.50856	L	0.98	0.42122	T	-3.18	0.75456	D	0.178	0.39254	-0.7362	0.58647	T	0.131	0.44129	T	10	0.009672582	0.00218	T	.	.	.	0.178	0.44724	.	.	0.458283960492	0.45451	0.7266496205129804	0.72608	0.54536870506	0.51572	0.430127859116	0.29226	T	0.518784	0.83131	D	-0.37689	0.03259	T	-0.306477	0.44037	T	0.0162388160515095	0.00397	T	0.922508	0.71813	D	0.60559386	0.72992	0.42838448	0.66553	0.60559386	0.72993	0.42838448	0.66554	-10.301	0.75694	D	.	.	0.393	0.59160	A	.;.;.	.;.;.	4.924803	0.81138	27.5	0.99247647619537593	0.56759	0.92127	0.55004	D	AEFBI	0.304100	0.41189	N	0.282336914429471	0.55252	3.689473	0.270801018861921	0.53840	3.551252	0.999733706754032	0.42341	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	4.25	0.49658	1.404000	0.34232	7.647000	0.63496	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.7638:0.0:0.2362	8.707	0.33524	442	0.79946	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.000000	0.000000	0.008621	0.015244	0.011364	0.02632	1116.33	34	chr3	129431542	.	C	G	1116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.115;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.715;SOR=0.735	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1130,0,1047	18	0	1	0
chr3	129977137	129977137	G	A	exonic	TRH	.	nonsynonymous SNV	TRH:NM_007117:exon3:c.G650A:p.S217N	Thyrotropin-releasing hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00590662224223	.	0.000199681	3.673e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs551488413	2.454e-05	2.737e-05	1.137e-05	3.811e-05	0.0004	1.766e-05	1.558e-05	0.0003	0.0003	3.276e-05	0	0	0	0	0	0	1.758e-05	0.0004	1.977e-05	1.971e-05	0	4.044e-05	0.0006	5.26e-06	2.46e-06	0.0002	9.047e-05	0	0	0	0	0	0	0	0	0	0.0006	0.352	0.13971	T	0.41	0.15059	T	0.808	0.45299	P	0.299	0.41006	B	0.000130	0.49741	D	0.180572	0.89883	0.27741	N	1.525	0.38595	L	0.8	0.48769	T	-0.61	0.18042	N	0.095	0.08786	-1.0485	0.14818	T	0.083	0.32671	T	10	0.06545794	0.08833	T	0.005907	0.15400	T	0.063	0.18251	0.301	0.26843	0.617599811619	0.61451	0.139879571752777	0.13910	0.281042322189	0.30577	0.676942586899	0.63831	T	0.285243	0.65803	T	-0.499538	0.00575	T	-0.655005	0.08607	T	0.109420172870159	0.13363	T	0.616838	0.24459	T	0.09470554	0.22273	0.09858834	0.23509	0.09470554	0.22272	0.09858834	0.23508	-5.455	0.41445	T	.	.	0.235	0.46881	B	.;.	.;.	1.639318	0.20925	14.97	0.95897601513213715	0.28120	0.44801	0.27398	N	AEFDBI	0.056015	0.10321	N	-0.299109901562314	0.29182	1.616095	-0.345026839409814	0.26663	1.474215	0.636628074678971	0.22015	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	4.81	2.99	0.33673	1.224000	0.32142	4.082000	0.41745	0.590000	0.31872	0.957000	0.33433	1.000000	0.68203	0.002000	0.04165	0.098:0.1785:0.7235:0.0	6.793	0.22894	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1628.33	59	chr3	129977137	.	G	A	1628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=1681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.125;SOR=0.643	GT:AD:DP:GQ:PL	0/1:66,58:124:99:1642,0,1800	18	0	1	0
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A,COL6A5:NM_153264:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2188	5712.42	63	chr3	130421335	.	G	C	5712.42	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-0.729;DP=1224;ExcessHet=20.8569;FS=266.52;InbreedingCoeff=-0.7674;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=1.91;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,29:81:99:.:.:765,0,1415:.	9	0	7	3
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4062	6329.56	63	chr3	130421337	.	T	C	6329.56	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.201;DP=1213;ExcessHet=25.4433;FS=261.259;InbreedingCoeff=-0.8537;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=1.66;SOR=10.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,38:81:99:0|1:130421337_T_C:913,0,1331:130421337	3	0	13	3
chr3	130665069	130665069	C	T	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon35:c.C6569T:p.P2190L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0155537792771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.11586	T	0.185	0.28958	T	0.005	0.12996	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.145	0.08828	N	-2.39	0.88377	D	-0.33	0.12472	N	0.108	0.09349	-0.6969	0.60586	T	0.413	0.76081	T	9	0.05368513	0.05599	T	0.015554	0.36344	T	0.084	0.24469	0.358	0.36060	0.255777322467	0.25185	0.04674379345673704	0.04617	0.0575164109144	0.06368	0.231086194515	0.02049	T	0.024945	0.18750	T	-0.161122	0.26589	T	-0.469217	0.25599	T	0.020212008614129	0.00721	T	0.537446	0.18074	T	0.023203133	0.01041	0.03700556	0.03263	0.023203133	0.01041	0.03700556	0.03263	-2.958	0.09736	T	.	.	0.073	0.04847	B	.	.	0.265188	0.06434	2.904	0.085102785543520465	0.00068	0.02557	0.07090	N	AEFBI	0.052196	0.09292	N	-1.08619753144259	0.06897	0.3188141	-1.10157931381415	0.07670	0.3740076	0.00287514683131839	0.09767	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.56	-0.811	0.10310	-0.245000	0.08908	-1.347000	0.05657	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:0.4981:0.0:0.5019	9.050	0.35534	446	0.79659	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1187.33	45	chr3	130665069	.	C	T	1187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=761;ExcessHet=0;FS=3.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=2.05;SOR=1.051	GT:AD:DP:GQ:PL	0/1:82,48:130:99:1201,0,2065	18	0	1	0
chr3	136330016	136330016	T	C	exonic	PCCB	.	nonsynonymous SNV	PCCB:NM_000532:exon15:c.T1610C:p.I537T,PCCB:NM_001178014:exon16:c.T1670C:p.I557T	Propionicacidemia, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.318200643431	.	.	8.243e-06	0	8.642e-05	0	0	0	0	0	6.5e-06	1	154602	rs759733016	4.104e-06	4.104e-06	5.445e-06	2.75e-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	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.93	0.51791	P	0.786	0.57542	P	0.000018	0.62929	D	0.113352	0.999999	0.81001	D	3.135	0.88152	M	-4.67	0.97973	D	-3.78	0.73684	D	0.717	0.71942	1.096	0.99499	D	0.954	0.98521	D	10	0.74255365	0.75061	D	0.318201	0.91394	D	0.938	0.98636	0.65	0.78753	0.98672461406	0.98657	0.763241242110953	0.76272	0.457163589501	0.45363	0.806106686592	0.82894	D	0.881854	0.97530	D	0.347445	0.86335	D	0.358159	0.90632	D	0.993593871593475	0.84455	D	0.985501	0.95043	D	0.6367447	0.74657	0.6962401	0.82114	0.6367447	0.74659	0.6962401	0.82115	-12.369	0.86602	D	.	.	0.696	0.80838	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.823830	0.78594	26.9	0.99830902595771431	0.91284	0.95734	0.65927	D	AEFDBHCI	0.941122	0.94398	D	0.754349086763813	0.83187	7.952312	0.715477292136185	0.83553	8.052172	0.999999986474056	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	7.376000	0.78918	7.779000	0.68628	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.0:1.0	15.247	0.73203	394	0.83065	Acetyl-CoA carboxylase;Acetyl-CoA carboxylase;Acetyl-CoA carboxylase;Acetyl-CoA carboxylase;Acetyl-CoA carboxylase;Acetyl-CoA carboxylase;Acetyl-CoA carboxylase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1233.33	33	chr3	136330016	.	T	C	1233.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.974;DP=707;ExcessHet=0;FS=1.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.789;SOR=0.52	GT:AD:DP:GQ:PL	0/1:35,48:83:99:1247,0,881	18	0	1	0
chr3	140678379	140678379	C	G	exonic	TRIM42	.	nonsynonymous SNV	TRIM42:NM_152616:exon1:c.C150G:p.C50W	.	423	1092	7	0	0	7	0.00319489	.	.	.	2336128	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.234	0.0157483482268	0.0005	.	0.0006	0	0.0007	0	0	0.0008	0.0011	0.0003	0.0004657	72	154602	rs141361028	0.0005	0.0005	0.0005	0.0005	0.0064	0.0004	0.0004	0.0048	0.0042	0.0001	0.0009	0.0046	0	0	0.0064	0.0004	0.0010	0.0004	0.0008	0.0008	0.0007	0.0009	0.0029	0.0007	0.0006	0.0022	0.0020	0.0002	0	0.0029	0.0043	0	0	0.0068	0.0007	0.0009	0.0002	0.069	0.35537	T	0.222	0.25748	T	0.999	0.77913	D	0.887	0.62952	P	0.101498	0.19837	N	0.511513	0.999946	0.51968	D	1.04	0.26193	L	1.04	0.40218	T	-1.85	0.43334	N	0.785	0.78167	-1.0414	0.16890	T	0.097	0.36315	T	10	0.08149922	0.13349	T	0.015748	0.36654	T	0.234	0.53644	.	.	0.502878934189	0.49925	0.8091116214778893	0.80866	0.961546008612	0.73030	0.723027408123	0.70487	T	0.005089	0.04527	T	-0.300767	0.08588	T	-0.268186	0.48002	T	0.0547075814622254	0.06308	T	0.679332	0.28809	T	0.19993033	0.41950	0.16060242	0.37398	0.19993033	0.41950	0.16060242	0.37397	-6.701	0.51818	T	.	.	0.927	0.84804	P	.	.	3.700671	0.52779	23.3	0.99298717592739283	0.58541	0.80023	0.39774	D	AEFI	0.499204	0.53299	N	0.172065467400196	0.49862	3.181898	0.213339131662549	0.50586	3.249167	1.32045791463176E-4	0.05486	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	3.76	0.42368	1.477000	0.35039	0.821000	0.21853	-0.182000	0.10109	1.000000	0.71638	0.999000	0.35428	0.927000	0.46353	0.0:0.8191:0.0:0.1809	8.257	0.30923	564	0.70960	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.008152	0.011696	0.000000	0.000000	0.006098	0.000000	0.05263	6371.83	33	chr3	140678379	.	C	G	6371.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.688;DP=1139;ExcessHet=0.119;FS=2.462;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.854;SOR=0.889	GT:AD:DP:GQ:PL	0/1:132,101:233:99:2484,0,3397	17	0	2	0
chr3	141443101	141443101	G	A	exonic	ZBTB38	.	nonsynonymous SNV	ZBTB38:NM_001376164:exon3:c.G713A:p.R238H,ZBTB38:NM_001376166:exon3:c.G713A:p.R238H,ZBTB38:NM_001376176:exon3:c.G713A:p.R238H,ZBTB38:NM_001376180:exon3:c.G713A:p.R238H,ZBTB38:NM_001376183:exon3:c.G713A:p.R238H,ZBTB38:NM_001376188:exon3:c.G713A:p.R238H,ZBTB38:NM_001350100:exon4:c.G713A:p.R238H,ZBTB38:NM_001376119:exon4:c.G713A:p.R238H,ZBTB38:NM_001376127:exon4:c.G713A:p.R238H,ZBTB38:NM_001376152:exon4:c.G713A:p.R238H,ZBTB38:NM_001376157:exon4:c.G713A:p.R238H,ZBTB38:NM_001376162:exon4:c.G713A:p.R238H,ZBTB38:NM_001376163:exon4:c.G713A:p.R238H,ZBTB38:NM_001376168:exon4:c.G713A:p.R238H,ZBTB38:NM_001376172:exon4:c.G713A:p.R238H,ZBTB38:NM_001376175:exon4:c.G713A:p.R238H,ZBTB38:NM_001376179:exon4:c.G713A:p.R238H,ZBTB38:NM_001376181:exon4:c.G713A:p.R238H,ZBTB38:NM_001376184:exon4:c.G713A:p.R238H,ZBTB38:NM_001376185:exon4:c.G713A:p.R238H,ZBTB38:NM_001376186:exon4:c.G713A:p.R238H,ZBTB38:NM_001376187:exon4:c.G713A:p.R238H,ZBTB38:NM_001376189:exon4:c.G713A:p.R238H,ZBTB38:NM_001376190:exon4:c.G713A:p.R238H,ZBTB38:NM_001376115:exon5:c.G713A:p.R238H,ZBTB38:NM_001376120:exon5:c.G713A:p.R238H,ZBTB38:NM_001376126:exon5:c.G713A:p.R238H,ZBTB38:NM_001376128:exon5:c.G713A:p.R238H,ZBTB38:NM_001376142:exon5:c.G713A:p.R238H,ZBTB38:NM_001376158:exon5:c.G713A:p.R238H,ZBTB38:NM_001376159:exon5:c.G713A:p.R238H,ZBTB38:NM_001376165:exon5:c.G713A:p.R238H,ZBTB38:NM_001376167:exon5:c.G713A:p.R238H,ZBTB38:NM_001376169:exon5:c.G713A:p.R238H,ZBTB38:NM_001376170:exon5:c.G713A:p.R238H,ZBTB38:NM_001376171:exon5:c.G713A:p.R238H,ZBTB38:NM_001376173:exon5:c.G713A:p.R238H,ZBTB38:NM_001376174:exon5:c.G713A:p.R238H,ZBTB38:NM_001376177:exon5:c.G713A:p.R238H,ZBTB38:NM_001376178:exon5:c.G713A:p.R238H,ZBTB38:NM_001376182:exon5:c.G713A:p.R238H,ZBTB38:NM_001350099:exon6:c.G713A:p.R238H,ZBTB38:NM_001376113:exon6:c.G713A:p.R238H,ZBTB38:NM_001376116:exon6:c.G713A:p.R238H,ZBTB38:NM_001376125:exon6:c.G713A:p.R238H,ZBTB38:NM_001376143:exon6:c.G713A:p.R238H,ZBTB38:NM_001376150:exon6:c.G713A:p.R238H,ZBTB38:NM_001376160:exon6:c.G713A:p.R238H,ZBTB38:NM_001376161:exon6:c.G713A:p.R238H,ZBTB38:NM_001376112:exon7:c.G713A:p.R238H,ZBTB38:NM_001376114:exon7:c.G713A:p.R238H,ZBTB38:NM_001376117:exon7:c.G713A:p.R238H,ZBTB38:NM_001376118:exon7:c.G713A:p.R238H,ZBTB38:NM_001080412:exon8:c.G713A:p.R238H,ZBTB38:NM_001376121:exon8:c.G713A:p.R238H,ZBTB38:NM_001376122:exon8:c.G713A:p.R238H,ZBTB38:NM_001376123:exon8:c.G713A:p.R238H,ZBTB38:NM_001376124:exon8:c.G713A:p.R238H	.	434	1061	26	1	0	28	0.0130233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0002	0.00279553	0.0032	0.0002	0.0004	0	0	0.0004	0.0022	0.0211	0.0026908	416	154602	rs377023098	0.0015	0.0015	0.0009	0.0021	0.0209	0.0014	0.0014	0.0201	0.0198	5.974e-05	0.0004	0.0009	0.0002	0	0.0035	0.0002	0.0018	0.0209	0.0007	0.0007	0.0004	0.0010	0.0178	0.0006	0.0006	0.0148	0.0136	0.0001	0	0.0001	0.0006	0.0002	0	0.0068	0.0002	0	0.0178	0.532	0.06980	T	0.543	0.09725	T	0.0	0.02946	B	0.0	0.01387	B	0.741391	0.06430	N	1.147300	1	0.08975	N	1.95	0.52479	M	3.55	0.08460	T	0.11	0.07736	N	0.058	0.02964	-0.9316	0.43903	T	0.013	0.05081	T	9	0.0043236613	0.00087	T	.	.	.	0.054	0.15330	.	.	0.082315109003	0.07666	0.21962120125670054	0.21878	0.514898390114	0.49413	0.202820792794	0.00543	T	0.015443	0.12953	T	-0.670972	0.00054	T	-0.720325	0.04780	T	0.00300759105265751	0.00031	T	0.629237	0.24427	T	0.027447535	0.01938	0.022425618	0.00267	0.027447535	0.01937	0.022425618	0.00267	-4.186	0.26548	T	.	.	0.069	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	0.233126	0.06140	2.588	0.4961296238526568	0.04240	0.09414	0.15175	N	AEFBI	0.070745	0.14055	N	-0.907266734746788	0.10670	0.5110632	-0.866328005923405	0.12896	0.6659944	0.999773346032568	0.42865	0.719381	0.83141	0	0.702456	0.74545	0	0.658983	0.55881	0	0.733575	0.97253	0	.	.	5.28	2.35	0.28166	0.017000	0.13294	0.019000	0.13561	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.078000	0.17132	0.2746:0.0:0.477:0.2484	4.538	0.11443	826	0.39940	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.006098	0.000000	0.02632	2897.33	34	chr3	141443101	.	G	A	2897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.88;DP=867;ExcessHet=0;FS=0.488;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.732;SOR=0.648	GT:AD:DP:GQ:PL	0/1:116,107:223:99:2911,0,2831	18	0	1	0
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R,SLC33A1:NM_001363883:exon1:c.C353G:p.P118R,SLC33A1:NM_004733:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	5341.98	127	chr3	155853645	.	G	C	5341.98	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-3.876;DP=2144;ExcessHet=11.1788;FS=271.216;InbreedingCoeff=-0.4797;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=1.48;SOR=12.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,40:130:99:.:.:299,0,2213:.	8	0	10	1
chr3	161249479	161249479	G	A	exonic	NMD3	.	nonsynonymous SNV	NMD3:NM_001320227:exon14:c.G1229A:p.R410Q,NMD3:NM_015938:exon14:c.G1229A:p.R410Q	.	.	.	.	.	.	.	.	.	.	.	3359163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.115	0.0114995185514	7.7e-05	.	7.696e-05	9.97e-05	0	0.0001	0.0002	0	0	0.0004	6.47e-05	10	154602	rs369937656	4.253e-05	4.652e-05	3.688e-05	4.825e-05	0.0003	3.386e-05	3.074e-05	0.0002	0.0001	0	0	0	0.0001	0	0.0002	2.883e-05	4.985e-05	0.0003	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.053	0.38863	T	0.056	0.47097	T	0.669	0.62824	P	0.046	0.51761	B	0.000014	0.62929	D	0.156026	1	0.81001	D	2.475	0.71894	M	1.93	0.22881	T	-2.05	0.47514	N	0.688	0.69387	-0.9656	0.38092	T	0.114	0.40536	T	10	0.40929833	0.56113	T	0.011	0.29187	T	0.115	0.32236	.	.	0.501624679856	0.49800	0.38580406853094706	0.38495	0.094433556557	0.10659	0.644528031349	0.59207	T	0.057563	0.30601	T	-0.231001	0.16518	T	-0.263617	0.48462	T	0.248631447553635	0.22811	T	0.974403	0.90895	D	0.20869991	0.43115	0.15698186	0.36728	0.20869991	0.43115	0.15698186	0.36727	-4.488	0.30731	T	.	.	0.329	0.62043	B	.;.;.	.;.;.	4.501380	0.70410	25.5	0.99944243482359807	0.99868	0.96997	0.72096	D	AEFDBCI	0.882806	0.81122	D	0.644927465250098	0.76042	6.413869	0.673804472150647	0.80393	7.289142	0.9999999995538	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.93	4.93	0.64394	8.904000	0.92204	7.531000	0.59918	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	18.010	0.89143	772	0.48957	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1101.33	33	chr3	161249479	.	G	A	1101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.223;DP=738;ExcessHet=0;FS=1.681;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.119;SOR=0.918	GT:AD:DP:GQ:PL	0/1:46,47:93:99:1115,0,1049	18	0	1	0
chr3	171686718	171686718	C	T	exonic	PLD1	.	nonsynonymous SNV	PLD1:NM_002662:exon16:c.G1834A:p.E612K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00693887146917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.19090	T	0.625	0.07316	T	0.0	0.02946	B	0.001	0.04355	B	0.543495	0.11511	N	0.775970	1	0.81001	D	-0.22	0.03977	N	3.41	0.05574	T	-0.87	0.23590	N	0.146	0.14763	-1.0333	0.19395	T	0.015	0.06090	T	10	0.095954	0.17176	T	0.006939	0.18374	T	0.044	0.11924	0.334	0.32167	0.403040389579	0.39917	0.5396088827909524	0.53885	0.117647876754	0.13252	0.333504378796	0.15463	T	0.039266	0.25130	T	-0.290036	0.09632	T	-0.654393	0.08650	T	0.0940194583217049	0.11686	T	0.791221	0.43226	T	0.07491365	0.16844	0.10236754	0.24533	0.07491365	0.16844	0.10236754	0.24533	-4.851	0.35179	T	0.16482640879820573	0.20393	0.064	0.01577	B	.	.	2.146653	0.27338	17.43	0.98067057984176853	0.37999	0.84121	0.43205	D	AEFBI	0.213815	0.33935	N	-0.559596874877708	0.20183	1.062153	-0.409163802641396	0.24728	1.35577	0.861838431089623	0.25241	0.562547	0.31514	0	0.588066	0.40923	0	0.573888	0.23631	0	0.635551	0.53088	0	.	.	5.68	3.89	0.44098	2.261000	0.42932	4.017000	0.41215	0.599000	0.40250	0.871000	0.30813	0.914000	0.28189	0.867000	0.41218	0.0:0.8406:0.0:0.1594	9.655	0.39083	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	.	.	.	.	.	.	.	.	0.02632	540.33	27	chr3	171686718	.	C	T	540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.816;DP=563;ExcessHet=0;FS=9.513;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.962;SOR=0.793	GT:AD:DP:GQ:PL	0/1:16,22:38:99:554,0,419	18	0	1	0
chr3	179623965	179623965	T	C	exonic	NDUFB5	.	nonsynonymous SNV	NDUFB5:NM_001199958:exon5:c.T388C:p.W130R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.911e-06	7.209e-05	5.595e-06	4.223e-06	4.609e-06	2.04e-06	1.31e-06	1.35e-06	9.8e-07	0	0	0	0	3.954e-05	0	4.609e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-0.63	0.18459	N	0.216	0.24135	-0.6731	0.61688	T	0.257	0.62744	T	5	0.18694821	0.34183	T	.	.	.	0.026	0.05648	0.427	0.47350	0.642851068427	0.63989	.	.	.	.	.	.	.	0.020626	0.16209	T	-0.187287	0.22658	T	-0.506801	0.21643	T	0.103307284206534	0.12717	T	0.265773	0.04346	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.38569	B	.;.	.;.	-0.256571	0.02815	0.388	0.96799615222830182	0.31146	0.24487	0.22409	N	AEFBI	0.119912	0.23382	N	-0.120171839563191	0.36516	2.111697	-0.134043431856465	0.34028	1.952845	0.00856043913646686	0.11698	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.17	2.76	0.31527	-0.517000	0.06360	-3.582000	0.02679	-0.711000	0.03940	0.658000	0.28243	0.000000	0.08366	0.137000	0.19835	0.0:0.1615:0.0:0.8385	8.627	0.33056	696	0.58299	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	250.83	35	chr3	179623965	.	T	C	250.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.405;DP=974;ExcessHet=0.119;FS=89.534;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=3.04;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,8:89:34:0|1:179623963_G_A:34,0,3290:179623963	17	0	2	0
chr3	179623966	179623966	G	C	exonic	NDUFB5	.	nonsynonymous SNV	NDUFB5:NM_001199957:exon4:c.G340C:p.G114R,NDUFB5:NM_001199958:exon5:c.G389C:p.W130S,NDUFB5:NM_002492:exon6:c.G496C:p.G166R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0882672381383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.064e-06	6.021e-05	2.739e-06	1.383e-06	1.807e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	1.879e-05	0	1.807e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.32141	T	0.165	0.45961	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.75	0.50192	T	-4.46	0.78388	D	0.888	0.88687	-0.1401	0.79162	T	0.410	0.75852	T	9	0.8808993	0.87400	D	0.088267	0.75100	D	0.456	0.75483	0.739	0.87147	0.566919426312	0.56356	0.7376073152616416	0.73705	0.783907768696	0.65412	0.677991628647	0.63980	T	0.153633	0.49457	T	0.27209	0.80629	D	0.153062	0.80378	D	0.99599552154541	0.88464	D	0.823718	0.48487	T	0.61235124	0.73354	0.39464846	0.64153	0.61235124	0.73355	0.39464846	0.64153	-1.995	0.08463	T	.	.	0.903	0.82925	P	.;.;.	.;.;.	4.282394	0.65240	24.8	0.99925815286718667	0.99042	0.97711	0.76584	D	AEFBI	0.923417	0.89987	D	0.466383344546995	0.65140	4.784983	0.531954369807172	0.70153	5.463319	0.99866222271968	0.37413	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.17	5.17	0.70848	6.774000	0.74807	11.579000	0.93331	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.140000	0.19946	0.0:0.0:1.0:0.0	17.447	0.87474	696	0.58299	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	254.13	35	chr3	179623966	.	G	C	254.13	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.054;DP=992;ExcessHet=0.119;FS=89.092;InbreedingCoeff=-0.064;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=3.04;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,8:88:37:0|1:179623963_G_A:37,0,3268:179623963	17	0	2	0
chr3	179623967	179623967	G	C	exonic	NDUFB5	.	nonsynonymous SNV	NDUFB5:NM_001199957:exon4:c.G341C:p.G114A,NDUFB5:NM_001199958:exon5:c.G390C:p.W130C,NDUFB5:NM_002492:exon6:c.G497C:p.G166A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.12197857641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.854e-07	3.148e-05	0	1.378e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.22400	T	0.356	0.20293	T	0.999	0.77913	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.8	0.48769	T	-3.38	0.67359	D	0.654	0.70702	-0.1401	0.79162	T	0.410	0.75852	T	9	0.8367439	0.82829	D	0.121979	0.80285	D	0.312	0.63375	0.735	0.86806	0.6236463853	0.62058	0.6873497321933157	0.68674	0.733095003342	0.62821	0.602588236332	0.53270	T	0.262495	0.63407	T	0.126212	0.66989	D	-0.0564815	0.66576	D	0.994511246681213	0.85849	D	0.922708	0.71908	D	0.6165376	0.73578	0.3834939	0.63311	0.6165376	0.73579	0.3834939	0.63311	-3.903	0.22348	T	.	.	0.686	0.72384	P	.;.;.	.;.;.	4.102283	0.61177	24.3	0.99815934126713535	0.89973	0.97711	0.76584	D	AEFBI	0.917384	0.88491	D	0.466819051696706	0.65162	4.788135	0.532535031141129	0.70190	5.469161	0.99866222271968	0.37413	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.17	5.17	0.70848	6.774000	0.74807	11.579000	0.93331	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.138000	0.19872	0.0:0.0:1.0:0.0	17.447	0.87474	696	0.58299	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	253.83	35	chr3	179623967	.	G	C	253.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.949;DP=890;ExcessHet=0.119;FS=89.092;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=3.04;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,8:88:37:0|1:179623963_G_A:37,0,3268:179623963	17	0	2	0
chr3	183270411	183270411	G	A	exonic	B3GNT5	.	nonsynonymous SNV	B3GNT5:NM_032047:exon2:c.G613A:p.E205K	.	435	1081	4	2	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00642235049605	7.7e-05	0.000199681	0.0007	0	0	0	0	4.498e-05	0	0.0052	0.0005821	90	154602	rs369390470	0.0004	0.0004	0.0002	0.0006	0.0062	0.0004	0.0004	0.0058	0.0056	0	0	0	0	0	0.0012	6.295e-06	0.0002	0.0062	0.0002	0.0002	0.0001	0.0002	0.0044	0.0001	0.0001	0.0029	0.0025	0	0	6.539e-05	0	0	0	0	5.88e-05	0	0.0044	0.398	0.10553	T	0.465	0.12421	T	0.014	0.16867	B	0.008	0.13708	B	0.088994	0.20451	N	0.513582	1	0.81001	D	0.31	0.10265	N	1.01	0.41058	T	-0.82	0.22508	N	0.075	0.05414	-1.0544	0.13198	T	0.092	0.35174	T	10	0.0064162016	0.00145	T	0.006422	0.16899	T	0.057	0.16321	.	.	0.334371577756	0.33041	0.36830186867704673	0.36744	0.320336579067	0.34239	0.379410505295	0.22174	T	0.092074	0.38929	T	-0.521638	0.00430	T	-0.520016	0.20293	T	0.0368775715300348	0.03133	T	0.80112	0.44691	T	0.12518145	0.29352	0.11545953	0.27872	0.12518145	0.29352	0.11545953	0.27871	-3.757	0.20164	T	.	.	0.067	0.02670	B	.;.;.	.;.;.	2.029198	0.25788	16.89	0.98838063540084009	0.47068	0.50956	0.28783	D	AEFDGBI	0.247426	0.36800	N	-0.182697512518706	0.33855	1.925535	-0.018502432869171	0.38881	2.297035	0.999999999335376	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	3.071000	0.49740	5.167000	0.47814	0.676000	0.76740	0.181000	0.24076	0.989000	0.31174	0.991000	0.66497	0.0:0.0:0.8581:0.1419	15.066	0.71660	777	0.48198	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2260.33	46	chr3	183270411	.	G	A	2260.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.165;DP=866;ExcessHet=0;FS=3.298;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-1.449;SOR=0.948	GT:AD:DP:GQ:PL	0/1:106,87:193:99:2274,0,2970	18	0	1	0
chr3	191380871	191380871	A	G	exonic	CCDC50	.	nonsynonymous SNV	CCDC50:NM_174908:exon8:c.A653G:p.K218R,CCDC50:NM_178335:exon9:c.A1181G:p.K394R	.	1	1468	50	3	0	56	0.0187166	.	.	.	173908	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.092	.	0.0035	0.00499201	0.0065	0.0011	0.0016	0	0.0002	0.0050	0.0101	0.0252	0.0061901	957	154602	rs114502673	0.0065	0.0065	0.0057	0.0073	0.0258	0.0064	0.0063	0.0249	0.0245	0.0007	0.0016	0.0058	0.0001	0.0004	0.0106	0.0059	0.0065	0.0258	0.0038	0.0039	0.0040	0.0037	0.0230	0.0036	0.0035	0.0195	0.0182	0.0009	0.0066	0.0018	0.0049	0	9.413e-05	0.0068	0.0056	0.0038	0.0230	.	.	.	.	.	.	0.705	0.41986	P	0.439	0.45685	B	0.000050	0.53742	D	0.132805	0.653512	0.30512	N	2.225	0.63025	M	.	.	.	.	.	.	.	.	-1.0102	0.26854	T	0.096	0.36159	T	10	0.006295413	0.00142	T	.	.	.	0.092	0.26621	.	.	0.394837016283	0.39092	0.018683176227404726	0.01822	0.45893775672	0.45492	0.605645656586	0.53701	T	0.005	0.04113	T	-0.427499	0.01535	T	-0.368595	0.37053	T	0.0189041882867734	0.00600	T	0.80202	0.45053	T	0.11414416	0.26949	0.0980237	0.23354	0.11414416	0.26949	0.0980237	0.23354	-7.596	0.58283	D	0.12031312152752395	0.11301	0.088	0.11654	B	.;.	.;.	3.501968	0.48999	22.7	0.99859256809670549	0.93820	0.91605	0.53878	D	AEFBI	0.620857	0.60576	D	0.0902555239688302	0.46009	2.84803	0.217124440906525	0.50797	3.268055	0.999999986345712	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	3.090000	0.49888	5.306000	0.48250	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	12.366	0.54558	971	0.05719	.;.	.	.	.	.	.	Likely benign	0	0	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	0.007056	0.000000	0.005435	0.002941	0.000000	0.008621	0.009146	0.018939	0.02632	731.33	39	chr3	191380871	.	A	G	731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=698;ExcessHet=0;FS=3.99;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.255;SOR=1.368	GT:AD:DP:GQ:PL	0/1:30,26:56:99:745,0,748	18	0	1	0
chr3	195780658	195780658	A	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.T10922C:p.V3641A,MUC4:NM_001322468:exon13:c.T9674C:p.V3225A	.	429	1058	34	0	1	35	0.015814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000705685479196	.	.	0.0015	0.0068	0	0	0	0.0020	0.0045	0.0005	7.68e-05	2	26028	rs879460868	0.0002	0.0009	0.0002	0.0002	0.0018	0.0002	0.0002	0.0008	0.0006	0.0002	0.0002	0.0003	2.861e-05	0.0004	0.0018	0.0002	0.0002	8.979e-05	0.0002	0.0007	0.0002	0.0003	0.0005	0.0001	0.0001	0.0002	0.0001	0.0003	0	0.0005	0	0	0.0002	0	0.0002	0.0008	0	0.006	0.61437	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.21	0.47130	T	-0.22	0.10480	N	0.029	0.01004	-1.0550	0.13040	T	0.041	0.17573	T	8	0.0060595274	0.00136	T	7.06E-4	0.00435	T	0.018	0.03083	.	.	0.0138822411134	0.00435	0.0013862887263178488	0.00127	.	.	0.480499744415	0.36125	T	.	.	.	-0.334995	0.05743	T	-0.718973	0.04846	T	0.00599053286477247	0.00066	T	0.487551	0.14930	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31608	B	.;.	.;.	-0.381201	0.02283	0.238	0.29312650245332855	0.01548	0.00026	0.00253	N	AEFBI	0.040979	0.06170	N	-1.21669360863065	0.04757	0.2153945	-1.36156097678698	0.03672	0.1717444	1.37229785910317E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.743	-0.753	0.10510	-0.408000	0.07232	-0.875000	0.07087	-2.074000	0.00407	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.343:0.0:0.657:0.0	3.955	0.08880	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.026744	0.053571	0.021552	0.023810	0.000000	0.000000	0.018750	0.000000	0.02632	630.33	553	chr3	195780658	.	A	G	630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.097;DP=6527;ExcessHet=0;FS=11.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.71;MQRankSum=-6.479;QD=1.71;ReadPosRankSum=3.85;SOR=1.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:328,40:368:99:0|1:195780658_A_G:644,0,13130:195780658	18	0	1	0
chr3	195780693	195780693	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G10887C:p.Q3629H,MUC4:NM_001322468:exon13:c.G9639C:p.Q3213H	.	432	1065	23	0	2	25	0.0106828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.000797059051977	.	.	0.0009	0.0035	0	0	0	0.0015	0	0.0004	0.0001537	4	26028	rs71187741	8.731e-05	0.0010	8.09e-05	9.39e-05	0.0004	7.398e-05	6.882e-05	0.0002	0.0002	0.0004	0.0004	0	0	2.289e-05	0	8.171e-05	0.0001	3.911e-05	0.0002	0.0010	0.0002	0.0003	0.0008	0.0001	0.0001	0.0003	0.0002	0.0003	0	0.0008	0	0	0	0	0.0002	0.0011	0	0.335	0.16683	T	0.102	0.38450	T	.	.	.	.	.	.	.	.	.	.	1	0.23529	N	.	.	.	1.44	0.35219	T	-0.3	0.11913	N	0.034	0.00942	-0.9998	0.29973	T	0.048	0.20434	T	8	0.004631281	0.00097	T	7.97E-4	0.00629	T	0.033	0.08068	0.127	0.03251	0.0138822411134	0.00435	0.009704117481466185	0.00932	.	.	0.490210533142	0.37467	T	.	.	.	-0.377653	0.03223	T	-0.780249	0.02446	T	0.00129230059404023	0.00013	T	0.623938	0.24053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.19598	B	.;.	.;.	-0.004473	0.04251	1.053	0.31744035902742451	0.01804	0.00006	0.00120	N	AEFBI	0.024324	0.01488	N	-1.81233255103216	0.00516	0.02219699	-1.89846433722479	0.00493	0.02184563	2.35175023955934E-5	0.03498	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	0.743	0.17496	-3.002000	0.00716	-3.500000	0.02739	-1.935000	0.00495	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3252:0.6748:0.0	6.114	0.19336	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021863	0.052941	0.020958	0.014286	0.000000	0.015152	0.025773	0.015152	0.02778	271.71	553	chr3	195780693	.	C	G	271.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.382;DP=6655;ExcessHet=0;FS=10.04;InbreedingCoeff=-0.0413;MLEAC=1;MLEAF=0.028;MQ=48.14;MQRankSum=-5.147;QD=0.7;ReadPosRankSum=-6.454;SOR=1.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:356,33:389:99:0|1:195780658_A_G:285,0,14301:195780658	17	0	1	1
chr3	195780706	195780706	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10874T:p.A3625V,MUC4:NM_001322468:exon13:c.C9626T:p.A3209V	.	435	1067	19	0	1	20	0.0088249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.000822420040839	.	.	0.0005	0	0	0	0	0.0013	0	0	.	.	.	rs867391165	4.323e-06	0.0003	1.422e-06	7.303e-06	3.798e-05	1.56e-06	1.02e-06	1.009e-05	4.8e-06	0	0	0	0	0	0	1.861e-06	1.742e-05	3.798e-05	9.431e-06	0.0004	0	1.955e-05	5.045e-05	0	0	.	.	5.045e-05	0	0	0	0	0	0	0	0	0	0.088	0.32296	T	0.087	0.40909	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.63	0.28002	T	0.27	0.05125	N	0.033	0.00882	-1.0115	0.26447	T	0.039	0.16806	T	8	0.018132657	0.00392	T	8.22E-4	0.00670	T	0.012	0.01476	.	.	0.0138822411134	0.00435	0.0016526067618037664	0.00153	.	.	0.461363464594	0.33498	T	.	.	.	-0.394458	0.02517	T	-0.804388	0.01795	T	0.0143684729092892	0.00288	T	0.655434	0.26547	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11172	B	.;.	.;.	0.186944	0.05738	2.181	0.9607270479013057	0.28629	0.00026	0.00253	N	AEFBI	0.047837	0.08098	N	-1.87978236223019	0.00378	0.01623157	-1.97814973378812	0.00340	0.01503316	1.32161766167243E-4	0.05486	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	1.03	-1.02	0.09618	-1.659000	0.02077	-2.240000	0.04011	-1.695000	0.00765	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3669:0.0:0.6331:0.0	6.571	0.21735	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021033	0.047059	0.021341	0.014286	0.000000	0.015152	0.015625	0.022388	0.02632	175.33	553	chr3	195780706	.	G	A	175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.234;DP=6604;ExcessHet=0;FS=14.304;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.67;MQRankSum=-4.793;QD=0.46;ReadPosRankSum=-7.563;SOR=1.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:348,30:378:99:0|1:195780658_A_G:189,0,14186:195780658	18	0	1	0
chr3	195780850	195780850	A	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.T10730C:p.V3577A,MUC4:NM_001322468:exon13:c.T9482C:p.V3161A	.	521	994	3	2	2	9	0.00350877	.	.	.	2825199	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.006	0.000854863878711	.	.	0.0022	0.0037	0.0026	0	0.0017	0.0036	0.0051	0.0008	7.68e-05	2	26028	rs199985629	0.0005	0.0014	0.0004	0.0005	0.0022	0.0004	0.0004	0.0017	0.0015	0.0022	0.0012	0.0011	0	0.0018	0.0022	0.0004	0.0006	9.886e-05	0.0005	0.0020	0.0006	0.0005	0.0012	0.0004	0.0003	0.0006	0.0004	0.0009	0	0.0012	0	0.0005	0.0013	0	0.0003	0.0013	0	0.431	0.11550	T	0.609	0.07716	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.15	0.41750	T	-0.08	0.08187	N	0.091	0.06990	-1.0286	0.20908	T	0.049	0.21026	T	8	0.006213963	0.00140	T	8.55E-4	0.00734	T	0.006	0.00375	.	.	0.0138822411134	0.00435	0.009985721365206375	0.00960	.	.	0.525611162186	0.42416	T	.	.	.	-0.352167	0.04591	T	-0.74364	0.03739	T	0.000454941909993067	0.00004	T	0.513749	0.16498	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.38818	B	.;.	.;.	0.670734	0.10390	7.116	0.27272057659275267	0.01346	0.00042	0.00346	N	AEFBI	0.034446	0.04269	N	-1.35804104531052	0.03043	0.1352977	-1.47566198146687	0.02545	0.117244	2.66241609414398E-5	0.03498	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.645665	0.59343	0	.	.	1.02	-2.03	0.06959	0.044000	0.13876	-2.597000	0.03566	0.101000	0.17621	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.4907:0.2623:0.2471:0.0	2.740	0.04928	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.042373	0.075949	0.033557	0.070588	0.166667	0.038462	0.008850	0.000000	0.05263	788.81	442	chr3	195780850	.	A	G	788.81	.	AC=2;AF=0.053;AN=38;DP=4063;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=29.3;QD=30.89;SOR=1.402	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,20:20:60:1|1:195780850_A_G:816,60,0:195780850	18	1	0	0
chr3	195780885	195780891	CTGACCT	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.10689_10695del:p.G3564Pfs*693,MUC4:NM_001322468:exon13:c.9441_9447del:p.V3148Tfs*351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.383e-07	6.963e-07	1.458e-06	0	.	0	0	.	.	0	0	0	0	2.077e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	557.77	474	chr3	195780884	.	CCTGACCT	C	557.77	.	AC=2;AF=0.053;AN=38;DP=4630;ExcessHet=0;FS=0;InbreedingCoeff=0.9999;MLEAC=2;MLEAF=0.053;MQ=31.44;QD=31.57;SOR=2.147	GT:AD:DP:GQ:PL	1/1:0,13:13:39:585,39,0	18	1	0	0
chr3	195780895	195780935	GATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.10645_10685del:p.D3549Hfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.905e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	512.77	682	chr3	195780894	.	GGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTC	G	512.77	.	AC=2;AF=0.053;AN=38;DP=6718;ExcessHet=0;FS=0;InbreedingCoeff=0.9999;MLEAC=2;MLEAF=0.053;MQ=31.92;QD=36.45;SOR=2.67	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,12:12:36:1|1:195780850_A_G:540,36,0:195780850	18	1	0	0
chr3	195781351	195781351	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10229A:p.P3410H,MUC4:NM_001322468:exon12:c.C9029A:p.P3010H	.	421	1076	13	2	10	27	0.00783771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00121522304319	.	.	.	.	.	.	.	.	.	.	.	.	.	rs778132636	1.641e-05	0.0002	1.618e-05	1.665e-05	0.0002	1.074e-05	9.17e-06	6.518e-05	4.235e-05	0.0002	0	8.352e-05	0	0	0.0002	1.155e-05	3.61e-05	0	4.219e-05	0.0003	2.754e-05	5.748e-05	0.0001	1.815e-05	1.195e-05	3.521e-05	2.13e-05	0.0001	0	7.051e-05	0	0	0	0	1.565e-05	0	0	0.022	0.48642	D	0.048	0.48594	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.24	0.37910	T	-0.57	0.17210	N	0.038	0.02462	-1.0385	0.17771	T	0.084	0.32729	T	8	0.099711806	0.18113	T	0.001215	0.01583	T	0.016	0.02506	.	.	0.0551355673512	0.04727	4.5752884900895235E-4	0.00041	.	.	0.471931934357	0.34946	T	.	.	.	-0.317217	0.07128	T	-0.693436	0.06192	T	0.0713543837680392	0.08840	T	0.535446	0.17943	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32128	B	.;.	.;.	1.907809	0.24231	16.32	0.85416962964254128	0.15879	0.03420	0.08548	N	AEFBCI	0.065392	0.12753	N	-0.699385715415552	0.16039	0.8137034	-0.949231515902597	0.10941	0.5543254	3.0968326685005E-5	0.03498	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	0.743	0.17496	0.137000	0.15816	0.921000	0.22704	0.093000	0.17603	0.000000	0.06391	0.001000	0.17328	0.016000	0.10718	1.0E-4:0.0:0.9999:0.0	6.905	0.23486	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	922.91	863	chr3	195781351	.	G	T	922.91	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.563;DP=10507;ExcessHet=0;FS=4.834;InbreedingCoeff=0.6381;MLEAC=2;MLEAF=0.053;MQ=58.56;MQRankSum=1.16;QD=0.9;ReadPosRankSum=-1.583;SOR=1.22	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,23:24:27:1|1:195781344_A_G:950,27,0:195781344	18	1	0	0
chr3	195781359	195781361	CAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.10219_10221del:p.M3407del,MUC4:NM_001322468:exon12:c.9019_9021del:p.A3007_A4615delinsSSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	420	1086	11	2	3	18	0.00685871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.531e-05	0	0	0	0	0	0	0.0003	.	.	.	rs762698074	9.696e-06	0.0001	8.824e-06	1.059e-05	0.0002	5.41e-06	4.17e-06	2.8e-06	1.8e-06	3.36e-05	2.958e-05	4.178e-05	0	0	0.0002	6.736e-06	3.61e-05	0	4.909e-05	0.0003	4.118e-05	5.734e-05	0.0001	2.237e-05	1.609e-05	3.533e-05	2.138e-05	0.0001	0	0	0	0	0	0	3.113e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	445.69	863	chr3	195781358	.	GCAT	G	445.69	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.036;DP=10442;ExcessHet=0;FS=0;InbreedingCoeff=0.1006;MLEAC=1;MLEAF=0.028;MQ=38.54;MQRankSum=1.75;QD=34.84;ReadPosRankSum=-1.645;SOR=2.147	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,11:12:9:0|1:195781344_A_G:459,0,9:195781344	17	0	1	1
chr3	195781366	195781366	T	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A10214C:p.D3405A,MUC4:NM_001322468:exon12:c.A9014C:p.D3005A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000692495189344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.706e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.058e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.01	0.56456	D	0.877	0.03268	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.57	0.30401	T	-0.55	0.16799	N	0.041	0.01421	-1.0006	0.29746	T	0.034	0.14596	T	8	0.07409394	0.11280	T	6.92E-4	0.00418	T	0.025	0.05312	0.195	0.10705	0.0138822411134	0.00435	5.30653042009119E-4	0.00049	.	.	0.471520483494	0.34889	T	.	.	.	-0.339195	0.05444	T	-0.725006	0.04557	T	0.0493263217484399	0.05381	T	0.79972	0.44511	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40489	B	.;.	.;.	1.511447	0.19414	14.25	0.94428839671675879	0.24842	0.00421	0.02078	N	AEFBCI	0.047331	0.07959	N	-1.25866060542241	0.04186	0.18848	-1.34570518675769	0.03856	0.1807618	1.23241025634707E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	0.743	0.17496	-0.489000	0.06570	-3.451000	0.02777	0.091000	0.17597	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.0:0.4186:0.5813	3.501	0.07234	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	193.71	1065	chr3	195781366	.	T	G	193.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.319;DP=10707;ExcessHet=0;FS=0;InbreedingCoeff=-0.0384;MLEAC=1;MLEAF=0.028;MQ=32.47;MQRankSum=1.38;QD=32.29;ReadPosRankSum=-1.15;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,5:6:27:0|1:195781344_A_G:207,0,27:195781344	17	0	1	1
chr3	195782760	195782807	ACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTG	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.8773_8820del:p.Q2925_G2940del,MUC4:NM_001322468:exon8:c.8101_8148del:p.P2703_A4615delinsTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.807e-05	3.779e-05	1.236e-05	2.397e-05	1.995e-05	1.203e-05	1.005e-05	1.303e-05	1.059e-05	0	0	9.158e-05	0	0	0	1.995e-05	0	1.53e-05	2.435e-05	0.0001	2.37e-05	2.504e-05	9.66e-05	4.04e-06	1.51e-06	1.697e-05	6.97e-06	9.66e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	1009.67	978	chr3	195782759	.	CACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTG	C	1009.67	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.74;DP=11266;ExcessHet=0;FS=6.542;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=42.74;MQRankSum=1.71;QD=20.61;ReadPosRankSum=-2.661;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,33:49:99:0|1:195782714_C_T:1023,0,519:195782714	17	0	1	1
chr3	195782770	195782770	A	0	exonic	MUC4	.	.	.	.	420	1086	13	0	3	16	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	172.79	978	chr3	195782770	.	A	*	172.79	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.69;DP=11264;ExcessHet=0;FS=0;InbreedingCoeff=0.7859;MLEAC=1;MLEAF=0.028;MQ=42.36;MQRankSum=-0.242;QD=3.84;ReadPosRankSum=-1.218;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:4,31:45:99:0|1:195782751_G_A:1185,189,402:195782751	17	0	1	1
chr3	195783896	195783896	-	AAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.7683_7684insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.L2561_P2562insSVTDTSSVSTGHATPLHVTSPSSASTGHATPL,MUC4:NM_001322468:exon7:c.7635_7636insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.S2547_A4615delinsVTDTSSVSTGHATPLHVTSPSSASTGHATPLSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	31151.9	578	chr3	195783896	.	G	GAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	31151.9	.	AC=3;AF=0.083;AN=36;BaseQRankSum=2.24;DP=9366;ExcessHet=0;FS=0;InbreedingCoeff=0.528;MLEAC=3;MLEAF=0.083;MQ=54.47;MQRankSum=-0.353;QD=33.42;ReadPosRankSum=-3.38;SOR=0.747	GT:AD:DP:GQ:PL	1/1:4,557:564:99:22913,1559,0	16	1	1	1
chr3	195785732	195785732	-	GTCACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAACAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGC	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.5847_5848insGCCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTGTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTGAC:p.H1949_T1950insATSLPVTDASSVSTGHATSVPVTIPSSASSGD,MUC4:NM_001322468:exon6:c.5847_5848insGCCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTGTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTGAC:p.S1950_A4615delinsATSLPVTDASSVSTGHATSVPVTIPSSASSGDSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	425	1062	9	0	26	35	0.00421941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0006	0	0	.	.	.	.	0.0015	0.0025	0.0014	0.0016	0.0094	0.0014	0.0014	0.0069	0.0060	0.0012	0.0012	0.0025	0	0.0033	0.0094	0.0014	0.0019	0.0016	0.0001	0.0002	3.884e-05	0.0003	0.0002	9.084e-05	7.337e-05	0.0001	7.695e-05	0.0002	0	9.632e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	22762.9	1058	chr3	195785732	.	T	TGTCACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAACAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGC	22762.9	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.304;DP=13211;ExcessHet=0.0101;FS=0.518;InbreedingCoeff=0.3698;MLEAC=4;MLEAF=0.111;MQ=52.52;MQRankSum=-14.42;QD=22.16;ReadPosRankSum=-11.01;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,302:323:99:.:.:13022,944,0:.	15	1	2	1
chr3	195788016	195788016	-	GTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.3563_3564insCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGATGCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCAC:p.S1189_P1190insLSSVSTGDTTPLLVTDASSASTGQATPLPVTSPSSASTGDTTPLPVTS,MUC4:NM_001322468:exon4:c.3563_3564insCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGATGCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCAC:p.G1189_A4615delinsSLSSVSTGDTTPLLVTDASSASTGQATPLPVTSPSSASTGDTTPLPVTGHTTPLPVTDTSSASTGHATSLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASTGDTTPLPVTDTSSASTGQDTPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	9934.29	76	chr3	195788016	.	A	AGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG	9934.29	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.528;DP=1129;ExcessHet=0;FS=10.747;InbreedingCoeff=0.7697;MLEAC=5;MLEAF=0.132;MQ=38.75;MQRankSum=0.506;QD=30.38;ReadPosRankSum=-7.767;SOR=2.31	GT:AD:DP:GQ:PL	1/1:10,123:133:99:5180,193,0	16	2	1	0
chr4	2305394	2305394	G	T	exonic	ZFYVE28	.	nonsynonymous SNV	ZFYVE28:NM_001172656:exon7:c.C856A:p.P286T,ZFYVE28:NM_001172659:exon8:c.C736A:p.P246T,ZFYVE28:NM_020972:exon8:c.C946A:p.P316T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0240773278015	.	.	5.877e-05	9.927e-05	8.669e-05	0.0001	0.0002	4.613e-05	0	0	4.53e-05	7	154602	rs61742112	6.437e-05	6.43e-05	7.766e-05	5.093e-05	0.0005	5.367e-05	4.981e-05	0.0001	7.544e-05	2.987e-05	8.947e-05	0	7.557e-05	0.0002	0.0005	5.756e-05	8.283e-05	2.319e-05	5.907e-05	5.905e-05	3.853e-05	8.052e-05	4.809e-05	3.074e-05	2.208e-05	7.97e-06	2.98e-06	4.809e-05	0	0	0	0	0.0004	0.0034	2.939e-05	0	0	0.203	0.20230	T	0.68	0.10857	T	0.002	0.16609	B	0.002	0.15521	B	0.014715	0.28452	N	0.391533	1	0.08975	N	1.085	0.27262	L	0.36	0.57880	T	-2.85	0.61284	D	0.121	0.17966	-1.0776	0.07821	T	0.075	0.30148	T	10	0.042159736	0.02938	T	0.024077	0.47063	T	0.066	0.19193	0.23	0.15705	0.0934897674506	0.08844	0.27072341695279895	0.26985	0.0478970202408	0.05224	0.345473825932	0.17253	T	0.010317	0.09328	T	-0.375541	0.03323	T	-0.551514	0.17180	T	0.0239086999429879	0.01134	T	0.626037	0.24205	T	0.047846746	0.08244	0.061873987	0.12017	0.047846746	0.08244	0.061873987	0.12016	-5.196	0.38901	T	.	.	0.067	0.02458	B	.;.;.	.;.;.	0.160314	0.05509	1.973	0.57831202914997393	0.05856	0.24589	0.22440	N	AEFDBI	0.136142	0.25671	N	-1.30282139137573	0.03643	0.1630985	-1.28634374863009	0.04614	0.2180656	0.988797442653119	0.31630	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.85	1.12	0.19700	0.166000	0.16400	0.271000	0.16657	-1.669000	0.00802	0.118000	0.23139	0.040000	0.21562	0.000000	0.00833	0.1448:0.3585:0.3743:0.1224	3.656	0.07757	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	7927.7	143	chr4	2305394	.	G	T	7927.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.54;DP=1210;ExcessHet=0.7564;FS=1.103;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=1.73;SOR=0.803	GT:AD:DP:GQ:PL	0/1:69,98:167:99:2628,0,1746	18	0	1	0
chr4	3074876	3074876	-	CAGCAGCAGCAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.51_52insCAGCAGCAGCAGCAGCAGCAG:p.Q38_P39insQQQQQQQ	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	4024341	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	0.0001921	5	26028	rs763773724	0.0036	0.0033	0.0033	0.0038	0.0058	0.0035	0.0034	0.0049	0.0046	0.0026	0.0055	0.0048	0.0024	0.0082	0.0058	0.0032	0.0055	0.0042	0.0101	0.0099	0.0107	0.0095	0.0119	0.0097	0.0095	0.0112	0.0109	0.0083	0	0.0118	0.0082	0.0032	0.0079	0.0119	0.0119	0.0116	0.0074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	16696.7	39	chr4	3074876	.	C	CCAGCAGCAGCAGCAGCAGCAG	16696.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.165;DP=1522;ExcessHet=0.0068;FS=0.803;InbreedingCoeff=0.5128;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=33.36;ReadPosRankSum=0.022;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,18:41:99:.:.:2115,856,758:.	18	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	6195.3	135	chr4	6862306	.	T	C	6195.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.635;DP=2656;ExcessHet=38.2876;FS=246.725;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=1.38;SOR=13.192	GT:AD:DP:GQ:PL	0/1:124,30:154:45:45,0,3032	1	0	18	0
chr4	7434681	7434681	A	G	exonic	PSAPL1	.	nonsynonymous SNV	PSAPL1:NM_001085382:exon1:c.T199C:p.C67R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.796	0.0168270170781	8e-05	.	2.721e-05	0	0	0	0	3.246e-05	0	6.617e-05	2.59e-05	4	154602	rs368529906	4.108e-06	4.788e-06	5.449e-06	2.753e-06	4.653e-05	1.48e-06	9.7e-07	1.586e-05	9.32e-06	0	0	0	0	0	0	8.997e-07	1.659e-05	4.653e-05	2.626e-05	2.625e-05	2.569e-05	2.684e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	2.855	0.82945	M	-12.46	0.99998	D	-11.16	0.99359	D	0.866	0.86297	0.653	0.92580	D	1.000	0.99985	D	9	0.9863058	0.98933	D	0.016827	0.38268	T	0.796	0.93306	.	.	0.901840116955	0.90086	0.9616510429231301	0.96151	0.257193398885	0.28292	0.495937764645	0.38261	T	0.623392	0.88229	D	0.464212	0.93107	D	0.444518	0.93445	D	0.999589622020721	0.98022	D	0.323768	0.06600	T	0.8286153	0.85806	0.84570354	0.91216	0.8286153	0.85808	0.84570354	0.91217	-11.293	0.81240	D	.	.	0.929	0.84920	P	.	.	3.276571	0.44877	22.0	0.99191248813702337	0.54994	0.46502	0.27774	N	AEFDBI	0.099877	0.20095	N	0.231516238267404	0.52731	3.445548	0.0360934949630002	0.41404	2.486934	0.999805513584084	0.43304	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.04	3.04	0.34171	0.050000	0.14004	3.783000	0.39798	0.751000	0.87719	0.000000	0.06391	0.995000	0.32472	0.208000	0.22126	1.0:0.0:0.0:0.0	7.723	0.27908	994	0.00715	Saposin-like type B, region 1|Saposin B type domain|Saposin B type domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1232.33	37	chr4	7434681	.	A	G	1232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.191;DP=1187;ExcessHet=0;FS=0.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.212;SOR=0.551	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1246,0,1225	18	0	1	0
chr4	37829982	37829982	G	A	exonic	PGM2	.	nonsynonymous SNV	PGM2:NM_018290:exon2:c.G100A:p.A34T	.	445	1076	1	0	0	1	0.000464468	.	.	.	720961	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.065	.	0.0042	0.00778754	0.0015	0.0161	0.0007	0	0	1.507e-05	0	6.355e-05	0.0014683	227	154602	rs114326618	0.0005	0.0005	0.0005	0.0004	0.0166	0.0004	0.0004	0.0154	0.0150	0.0166	0.0008	0	0	0	0.0002	5.423e-06	0.0010	6.001e-05	0.0045	0.0045	0.0042	0.0048	0.0157	0.0042	0.0041	0.0147	0.0143	0.0157	0	0.0016	0	0	0	0	4.413e-05	0.0024	0.0004	0.035	0.43708	D	0.065	0.44702	T	0.001	0.07471	B	0.002	0.06944	B	0.486343	0.12107	N	0.789478	1	0.08975	N	0	0.06538	N	0.75	0.50192	T	-0.22	0.10480	N	0.089	0.06720	-1.0433	0.16324	T	0.019	0.08126	T	10	0.0039089024	0.00074	T	.	.	.	0.065	0.18881	.	.	0.295623431141	0.29171	0.24834405376233887	0.24748	0.0514137841214	0.05660	0.322352617979	0.13777	T	0.335996	0.70555	T	-0.664721	0.00059	T	-0.713322	0.05125	T	0.00234674451008294	0.00024	T	0.506749	0.18358	T	0.030616408	0.02756	0.04399897	0.05603	0.030616408	0.02755	0.04399897	0.05602	-3.295	0.13673	T	.	.	0.067	0.02578	B	.;.	.;.	0.383857	0.07557	4.210	0.73165378658890301	0.10230	0.04300	0.09847	N	AEFBCI	0.028164	0.02433	N	-1.66228354392622	0.00984	0.04266662	-1.72323931121705	0.01038	0.04658992	0.999999831887088	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.64	-8.49	0.00812	-0.051000	0.11840	-0.389000	0.09488	-1.260000	0.01293	0.007000	0.17678	0.000000	0.08366	0.726000	0.34967	0.6934:0.0707:0.0881:0.1478	6.751	0.22674	832	0.38914	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	565.33	33	chr4	37829982	.	G	A	565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.9;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=-0.829;SOR=0.703	GT:AD:DP:GQ:PL	0/1:49,25:74:99:579,0,1252	18	0	1	0
chr4	38014736	38014736	C	A	exonic	TBC1D1	.	nonsynonymous SNV	TBC1D1:NM_001253912:exon3:c.C645A:p.N215K,TBC1D1:NM_015173:exon3:c.C645A:p.N215K	.	.	.	.	.	.	.	.	.	.	.	709348	Inborn_genetic_diseases|TBC1D1-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.00411037004372	0.0022	0.00119808	0.0006	0.0079	0.0002	0	0	0	0	0	0.0005757	89	154602	rs201858985	0.0002	0.0002	0.0003	0.0002	0.0082	0.0002	0.0002	0.0074	0.0070	0.0082	0.0004	0	0	0	0.0006	1.989e-06	0.0007	4.738e-05	0.0019	0.0019	0.0019	0.0019	0.0064	0.0017	0.0016	0.0058	0.0055	0.0064	0	0.0007	0	0	0	0	3.045e-05	0.0010	0	0.796	0.03150	T	0.501	0.11153	T	0.0	0.02946	B	0.001	0.04355	B	0.000097	0.00436	N	5.446160	1	0.08975	N	0	0.06538	N	3.7	0.16217	T	-0.64	0.18670	N	0.074	0.04790	-1.0044	0.28636	T	0.012	0.04700	T	10	0.003964573	0.00076	T	0.00411	0.09838	T	0.032	0.07718	0.204	0.11936	0.0666544352282	0.05500	0.20020185306895627	0.19937	0.606481293872	0.55497	0.348266601562	0.17666	T	0.046245	0.27364	T	-0.698861	0.00037	T	-0.772916	0.02673	T	0.0030148296069606	0.00032	T	0.253875	0.03902	T	0.031133138	0.02898	0.031654384	0.01785	0.031133138	0.02897	0.031654384	0.01784	-4.0	0.25687	T	.	.	0.154	0.34138	B	.;.;.	.;.;.	-0.830364	0.01049	0.045	0.27960961485262309	0.01413	0.02496	0.06978	N	AEFDBI	0.030117	0.02969	N	-1.72661306285081	0.00751	0.03245293	-1.81077302231918	0.00725	0.03232031	0.999999960465682	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	3.61	-7.21	0.01340	-0.354000	0.07731	-4.197000	0.02287	-1.189000	0.01377	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3785:0.0883:0.286:0.2472	1.470	0.02267	828	0.39726	.;PTB/PI domain;PTB/PI 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	0.000505	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1250.33	35	chr4	38014736	.	C	A	1250.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=712;ExcessHet=0;FS=9.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=-0.968;SOR=1.337	GT:AD:DP:GQ:PL	0/1:31,45:76:99:1264,0,702	18	0	1	0
chr4	47582017	47582017	G	A	exonic	ATP10D	.	nonsynonymous SNV	ATP10D:NM_020453:exon21:c.G3706A:p.A1236T	.	.	.	.	.	.	.	.	.	.	.	3479258	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0245594493464	.	.	4.119e-05	0.0002	8.639e-05	0	0.0002	0	0	6.058e-05	3.23e-05	5	154602	rs762466294	1.915e-05	2.052e-05	1.634e-05	2.2e-05	0.0004	1.328e-05	1.144e-05	0.0003	0.0002	0.0004	0	0	0	0	0	4.497e-06	4.968e-05	5.797e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.58e-05	6.284e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	1.47e-05	0	0.0002	0.007	0.59928	D	0.013	0.63109	D	0.989	0.62824	D	0.626	0.51600	P	0.000206	0.47681	D	0.180867	0.725696	0.33664	D	2.795	0.81503	M	1.2	0.37405	T	-2.8	0.59226	D	0.586	0.60664	-0.8982	0.48175	T	0.133	0.44622	T	10	0.44291896	0.58215	T	0.024559	0.47547	T	0.121	0.33580	.	.	0.616482784632	0.61338	0.5572574411991288	0.55652	0.413043186575	0.42023	0.54797410965	0.45572	T	0.031291	0.21975	T	-0.20387	0.20249	T	-0.293953	0.45359	T	0.794006407260895	0.45952	D	0.832417	0.50060	T	0.30589142	0.53427	0.3164783	0.57628	0.30589142	0.53427	0.3164783	0.57627	-9.288	0.69532	D	.	.	0.141	0.30997	B	.	.	4.052935	0.60094	24.2	0.99872880393389973	0.94989	0.95129	0.63544	D	AEFBI	0.348946	0.44291	N	0.444270329178659	0.63879	4.630341	0.428385576785697	0.63340	4.565812	0.744003756277266	0.23256	0.67177	0.52595	0	0.653731	0.59785	0	0.653264	0.51672	0	0.711	0.71501	0	.	.	5.01	4.16	0.48138	4.052000	0.57132	6.511000	0.55808	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:0.8471:0.1529	13.940	0.63557	466	0.78352	P-type ATPase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2733.33	35	chr4	47582017	.	G	A	2733.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.007;DP=837;ExcessHet=0;FS=1.088;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=2.29;SOR=0.593	GT:AD:DP:GQ:PL	0/1:93,110:203:99:2747,0,2178	18	0	1	0
chr4	47595861	47595861	G	A	exonic	CORIN	.	nonsynonymous SNV	CORIN:NM_001278585:exon20:c.C2677T:p.R893W,CORIN:NM_006587:exon22:c.C2989T:p.R997W	Preeclampsia/eclampsia 5	0	1520	2	0	0	2	0.000657462	.	.	.	2390375	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.471	0.0535100107136	0.0002	.	0.0002	0.0002	0.0002	0	0	0.0002	0.0022	6.161e-05	0.0001294	20	154602	rs149439710	8.624e-05	8.687e-05	8.172e-05	9.081e-05	0.0007	7.357e-05	6.907e-05	0.0002	0.0001	0.0001	6.739e-05	0	0	1.873e-05	0.0007	8.545e-05	0.0002	5.805e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.095e-05	5.751e-05	3.762e-05	2.575e-05	9.657e-05	0	0.0001	0	0.0002	0	0.0032	8.82e-05	0.0010	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.977	0.58535	D	0.606	0.50970	P	0.164147	0.17570	N	0.561258	0.929095	0.36915	D	3.565	0.93411	H	0.07	0.61677	T	-4.59	0.79399	D	0.253	0.54584	-0.0314	0.81601	T	0.417	0.76319	T	10	0.52224123	0.62709	D	0.05351	0.65498	D	0.471	0.76487	.	.	0.889421573989	0.88833	0.5917960218951737	0.59109	0.298534013486	0.32233	0.325806677341	0.14300	T	0.845664	0.96440	D	-0.170657	0.25134	T	-0.203479	0.54316	T	0.755568981170654	0.43598	D	0.893711	0.63166	D	0.3345977	0.55845	0.43498653	0.67000	0.3345977	0.55845	0.43498653	0.67000	-10.016	0.74008	D	.	.	0.102	0.20391	B	.;.;.;.;.	.;.;.;.;.	4.876990	0.79954	27.2	0.99907720885646478	0.97801	0.98153	0.80057	D	AEFBI	0.827656	0.74690	D	0.534845174254072	0.69167	5.318449	0.435105053787648	0.63768	4.617078	0.998593647188108	0.37268	0.487112	0.14033	0	0.446627	0.06534	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.2	4.35	0.51454	5.347000	0.65768	8.544000	0.77503	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.253000	0.23340	0.0:0.1474:0.8526:0.0	14.432	0.66833	457	0.78953	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.006793	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	642.33	33	chr4	47595861	.	G	A	642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.595;DP=668;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=-1.07;SOR=0.671	GT:AD:DP:GQ:PL	0/1:36,28:64:99:656,0,855	18	0	1	0
chr4	48113296	48113296	G	C	exonic	TXK	.	nonsynonymous SNV	TXK:NM_003328:exon3:c.C85G:p.Q29E	.	.	.	.	.	.	.	.	.	.	.	3493110	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.0332963934349	7.7e-05	.	1.648e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs140295228	7.561e-06	7.525e-06	9.574e-06	5.527e-06	0.0003	4.06e-06	2.97e-06	0.0001	0.0001	0.0003	0	0	0	0	0	9.032e-07	1.666e-05	0	8.547e-05	8.538e-05	7.712e-05	9.42e-05	0.0003	4.96e-05	3.965e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.017	0.63226	D	0.533	0.10000	T	0.009	0.35719	B	0.011	0.26280	B	0.055809	0.22612	N	0.391554	0.962592	0.26060	N	2.125	0.59049	M	-0.77	0.73523	T	-0.55	0.26200	N	0.195	0.21449	-0.7445	0.58221	T	0.217	0.57889	T	10	0.12290892	0.23323	T	0.033296	0.54882	D	0.041	0.10877	.	.	0.797588359348	0.79570	0.5996215912523966	0.59893	0.160688802949	0.18139	0.350619077682	0.18012	T	0.114302	0.43201	T	-0.218278	0.18229	T	-0.314649	0.43157	T	0.117718040334648	0.14205	T	0.622038	0.23930	T	0.1147071	0.27077	0.15556045	0.36459	0.1147071	0.27077	0.15556045	0.36458	-2.743	0.07671	T	.	.	0.069	0.03849	B	.;.	.;.	2.191990	0.27947	17.63	0.97074304105902753	0.32251	0.73798	0.36097	D	AEFBI	0.152004	0.27660	N	-0.273353923774653	0.30181	1.680475	-0.165054251540235	0.32833	1.871911	0.991912385030531	0.32653	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.03	4.17	0.48303	1.796000	0.38428	7.281000	0.58022	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.300000	0.24500	0.0:0.1862:0.8138:0.0	11.135	0.47594	430	0.80826	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	739.33	39	chr4	48113296	.	G	C	739.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.385;DP=775;ExcessHet=0;FS=0.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=-0.537;SOR=0.569	GT:AD:DP:GQ:PL	0/1:49,34:83:99:753,0,1236	18	0	1	0
chr4	54264951	54264951	C	T	exonic	PDGFRA	.	nonsynonymous SNV	PDGFRA:NM_001347827:exon5:c.C661T:p.L221F,PDGFRA:NM_001347829:exon5:c.C661T:p.L221F,PDGFRA:NM_001347830:exon5:c.C700T:p.L234F,PDGFRA:NM_006206:exon5:c.C661T:p.L221F,PDGFRA:NM_001347828:exon6:c.C736T:p.L246F	Gastrointestinal stromal tumor, somatic;Hypereosinophilic syndrome, idiopathic, resistant to imatinib, Isolated cases, Somatic mutation	0	1518	4	0	0	4	0.00131579	.	.	.	50240	Myeloproliferative_neoplasm,_unclassifiable|Hereditary_cancer-predisposing_syndrome|Idiopathic_hypereosinophilic_syndrome|not_specified|not_provided|Gastrointestinal_stromal_tumor	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0011895,MedGen:C0206141,OMIM:607685,Orphanet:3260|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.213	0.031371869359	0.0033	0.00159744	0.0038	0.0010	0.0017	0	0.0023	0.0054	0.0022	0.0030	0.0037839	585	154602	rs139913632	0.0046	0.0046	0.0046	0.0046	0.0054	0.0045	0.0045	0.0053	0.0052	0.0007	0.0016	0.0002	0	0.0019	0.0012	0.0054	0.0036	0.0034	0.0030	0.0030	0.0031	0.0029	0.0053	0.0027	0.0027	0.0049	0.0047	0.0007	0	0.0016	0	0	0.0017	0	0.0053	0.0038	0.0025	0.053	0.38863	T	0.061	0.45530	T	0.251	0.31212	B	0.085	0.29395	B	0.270130	0.03767	U	1.838210	0.999998	0.08975	N	0.895	0.22405	L	-0.93	0.75215	T	-0.83	0.22727	N	0.173	0.18512	-0.6434	0.63000	T	0.271	0.64214	T	10	0.0056384206	0.00125	T	0.031372	0.53467	D	0.213	0.50496	.	.	0.436121992451	0.43229	0.5085610527658393	0.50778	0.448752929517	0.44691	0.289241403341	0.08812	T	0.111494	0.42703	T	-0.485534	0.00688	T	-0.46774	0.25760	T	0.0276726401299813	0.01641	T	0.823718	0.48487	T	0.14375366	0.33026	0.16961385	0.39009	0.10524847	0.24884	0.1830381	0.41267	-5.275	0.39695	T	.	.	0.088	0.11749	B	.	.	2.526043	0.32649	19.11	0.99416709306799655	0.63549	0.35744	0.25373	N	AEFBI	0.282753	0.39601	N	-0.349722166009919	0.27281	1.495586	-0.29657193508131	0.28210	1.57113	0.999384646998498	0.39415	0.59774	0.34471	0	0.588015	0.36545	0	0.573888	0.23631	0	0.63947	0.58350	0	.	.	5.26	4.38	0.52019	0.908000	0.28167	1.836000	0.29152	0.549000	0.26987	0.000000	0.06391	0.004000	0.18990	0.098000	0.18187	0.0:0.8652:0.1348:0.0	17.459	0.87510	455	0.79073	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.012195	0.000000	0.02632	1520.33	36	chr4	54264951	.	C	T	1520.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=826;ExcessHet=0;FS=0.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.776;SOR=0.808	GT:AD:DP:GQ:PL	0/1:77,58:135:99:1534,0,1928	18	0	1	0
chr4	55110542	55110542	C	G	exonic	KDR	.	nonsynonymous SNV	KDR:NM_002253:exon9:c.G1116C:p.E372D	Hemangioma, capillary infantile, somatic	.	.	.	.	.	.	.	.	.	.	138358	not_provided|not_specified|Capillary_infantile_hemangioma	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011191,MedGen:C1865871,OMIM:602089	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.119	.	0.0065	0.00938498	0.0024	0.0264	0.0016	0	0	1.499e-05	0.0022	0	0.0023868	369	154602	rs113121239	0.0007	0.0007	0.0008	0.0006	0.0247	0.0007	0.0007	0.0233	0.0227	0.0247	0.0016	0.0003	0	0	0.0012	2.068e-05	0.0015	4.637e-05	0.0073	0.0074	0.0073	0.0074	0.0258	0.0070	0.0068	0.0246	0.0240	0.0258	0	0.0020	0.0003	0	0	0	7.354e-05	0.0038	0	0.323	0.13436	T	0.436	0.13480	T	0.507	0.37264	P	0.253	0.39112	B	0.000379	0.45194	D	0.229090	0.928012	0.27130	N	0.455	0.12820	N	-0.29	0.67712	T	-0.56	0.17003	N	0.138	0.13626	-1.0783	0.07681	T	0.050	0.21456	T	10	0.008658975	0.00196	T	.	.	.	0.119	0.33137	0.361	0.36548	0.179529687257	0.17594	0.5643161842732969	0.56358	0.220778280987	0.24628	0.345345556736	0.17234	T	0.109783	0.42395	T	-0.553527	0.00278	T	-0.548956	0.17426	T	0.0159067543627102	0.00375	T	0.586841	0.21439	T	0.24842724	0.47829	0.10006664	0.23914	0.19654086	0.41486	0.06541006	0.13252	-5.154	0.38470	T	.	.	0.088	0.11558	B	.;.	.;.	1.627941	0.20790	14.91	0.96627216239500302	0.30502	0.62637	0.31842	D	AEFBI	0.311597	0.41728	N	-0.366223506457476	0.26680	1.457968	-0.337733270602156	0.26891	1.488355	0.779189762472938	0.23809	0.722319	0.85440	0	0.573888	0.26702	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.65	1.48	0.21900	0.087000	0.14801	-0.194000	0.11009	0.595000	0.32841	0.960000	0.33603	0.281000	0.24108	0.404000	0.26872	0.2038:0.3897:0.1314:0.275	0.768	0.00953	715	0.56137	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.010101	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2308.33	34	chr4	55110542	.	C	G	2308.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.384;DP=810;ExcessHet=0;FS=1.258;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=1.42;SOR=0.591	GT:AD:DP:GQ:PL	0/1:71,84:155:99:2322,0,1983	18	0	1	0
chr4	76251751	76251751	C	G	exonic	FAM47E;FAM47E-STBD1	.	nonsynonymous SNV	FAM47E:NM_001136570:exon1:c.C5G:p.A2G,FAM47E-STBD1:NM_001242939:exon1:c.C5G:p.A2G	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0974812709017	.	0.000998403	0.0002	0	0	0	.	0.0009	0	0	4.53e-05	7	154602	rs578009899	0.0001	0.0001	9.616e-05	0.0001	0.0006	9.127e-05	8.621e-05	0.0002	8.948e-05	0	3.401e-05	0.0006	0	0	0.0006	0.0001	9.033e-05	0.0002	0.0001	0.0001	7.709e-05	0.0002	0.0010	9.144e-05	7.7e-05	0.0004	0.0003	2.406e-05	0	0.0001	0.0012	0	0	0	0.0001	0.0005	0.0010	0.236	0.20154	T	0.191	0.41573	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	0.531308	0.31977	D	0.675	0.16386	N	0.53	0.55090	T	-1.68	0.40082	N	0.061	0.03283	-1.0503	0.14313	T	0.051	0.21533	T	9	0.012729645	0.00272	T	0.097481	0.76780	D	0.010	0.01040	0.286	0.24440	0.0138822411134	0.00435	0.045041955246726946	0.04448	0.0307899206194	0.03180	0.645002841949	0.59275	T	0.001038	0.00564	T	-0.456262	0.01037	T	-0.667463	0.07771	T	0.0297009246653958	0.01944	T	0.252075	0.03833	T	0.06348697	0.13372	0.09320042	0.22002	0.06348697	0.13372	0.09320042	0.22002	-4.348	0.28844	T	.	.	0.061	0.01161	B	.;.	.;.	0.870636	0.12432	8.969	0.53308511084140153	0.04914	0.16316	0.19332	N	ALL	0.053010	0.09514	N	-1.71346948861226	0.00795	0.03435489	-1.74282442790023	0.00961	0.04302074	0.999999999999671	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.289072	0.05449	1	0.554799	0.18163	0	.	.	3.08	-2.33	0.06340	-0.299000	0.08291	-0.758000	0.07548	-2.118000	0.00386	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.3968:0.3737:0.1335:0.096	2.987	0.05606	886	0.28090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	642.33	20	chr4	76251751	.	C	G	642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.018;DP=579;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=0.635;SOR=0.826	GT:AD:DP:GQ:PL	0/1:16,30:46:99:656,0,277	18	0	1	0
chr4	76278141	76278141	C	-	exonic	FAM47E;FAM47E-STBD1	.	frameshift deletion	FAM47E:NM_001136570:exon6:c.943delC:p.Q315Kfs*3,FAM47E:NM_001242936:exon6:c.649delC:p.Q217Kfs*3,FAM47E-STBD1:NM_001242939:exon6:c.943delC:p.Q315Kfs*3	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.789e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs772796101	1.716e-05	1.71e-05	1.552e-05	1.885e-05	0.0007	1.161e-05	9.76e-06	0.0002	0.0001	0	0	0	0	0	0.0007	8.343e-06	6.901e-05	8.846e-05	1.314e-05	1.313e-05	1.285e-05	1.346e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2057.29	35	chr4	76278140	.	GC	G	2057.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.283;DP=734;ExcessHet=0;FS=3.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.78;ReadPosRankSum=0.978;SOR=0.412	GT:AD:DP:GQ:PL	0/1:45,59:104:99:2071,0,1504	18	0	1	0
chr4	76323301	76323301	C	T	splicing	CCDC158	NM_001042784:exon23:c.3265+1G>A	.	.	.	432	1087	2	1	0	4	0.00183655	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.323e-05	0	0	0	0	1.502e-05	0	0.0002	2.59e-05	4	154602	rs773600556	2.272e-05	2.257e-05	1.919e-05	2.628e-05	0.0005	1.62e-05	1.425e-05	0.0001	7.568e-05	0	0	3.843e-05	0	0	0.0005	1.267e-05	6.663e-05	0.0001	1.314e-05	1.313e-05	1.285e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225306	0.76278	D	0.322529	0.89195	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.507804	0.91651	32	0.99458818421025752	0.65684	0.83204	0.42341	D	AEFBI	.	.	.	1.07287293285858	0.97599	16.41083	0.911249591277059	0.96045	14.24091	0.102146885802665	0.16405	0.06567	0.01388	0	0.063388	0.01293	0	0.063197	0.01477	0	0.075334	0.01956	0	0.980857	0.86291	5.07	5.07	0.68106	3.581000	0.53658	7.497000	0.59440	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	14.150	0.64910	775	0.48401	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1844.33	34	chr4	76323301	.	C	T	1844.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.543;DP=785;ExcessHet=0;FS=3.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.045;SOR=0.452	GT:AD:DP:GQ:PL	0/1:92,75:167:99:1858,0,2367	18	0	1	0
chr4	76755156	76755156	A	C	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon7:c.A4673C:p.Q1558P	.	416	1076	29	1	0	31	0.0142006	.	.	.	698634	SHROOM3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.006	0.0037885494291	0.0028	0.00199681	0.0029	0.0006	0.0029	0.0001	0.0007	0.0040	0.0070	0.0023	0.0028913	447	154602	rs138661793	0.0028	0.0028	0.0027	0.0029	0.0246	0.0027	0.0027	0.0213	0.0201	0.0005	0.0034	0.0216	5.038e-05	0.0006	0.0246	0.0024	0.0048	0.0027	0.0031	0.0031	0.0033	0.0029	0.0074	0.0029	0.0028	0.0063	0.0059	0.0008	0.0099	0.0074	0.0225	0	0.0008	0.0374	0.0030	0.0052	0.0015	0.311	0.13971	T	0.227	0.25362	T	0.001	0.07471	B	0.002	0.06944	B	0.164302	0.03063	N	1.835150	1	0.08975	N	0.49	0.13296	N	2.1	0.19990	T	-0.16	0.09460	N	0.076	0.05037	-1.0477	0.15045	T	0.015	0.05801	T	10	0.0039895773	0.00077	T	0.003789	0.08837	T	0.006	0.00375	.	.	0.0675242888579	0.06100	0.10522535568034377	0.10452	0.375884268268	0.39039	0.23220461607	0.02135	T	0.023092	0.17685	T	-0.692603	0.00040	T	-0.769758	0.02776	T	0.0039490808060735	0.00042	T	0.381362	0.09225	T	0.069005035	0.15082	0.057874605	0.10597	0.069005035	0.15082	0.057874605	0.10596	-1.951	0.03001	T	.	.	0.067	0.02861	B	.;.	.;.	-1.144249	0.00589	0.015	0.5345122100501295	0.04942	0.00570	0.02584	N	AEFBI	0.030139	0.02977	N	-1.85409473304675	0.00426	0.01831619	-1.9462105454224	0.00396	0.0174892	0.999999999832785	0.74766	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.23	-10.5	0.00234	-2.129000	0.01400	-1.741000	0.04811	-0.651000	0.04387	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2547:0.46:0.0687:0.2166	4.439	0.10988	735	0.53711	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.021277	0.010101	0.023098	0.048485	0.000000	0.034483	0.003049	0.018939	0.02632	891.33	47	chr4	76755156	.	A	C	891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.361;DP=795;ExcessHet=0;FS=1.94;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=-1.514;SOR=0.985	GT:AD:DP:GQ:PL	0/1:57,40:97:99:905,0,1699	18	0	1	0
chr4	82906613	82906613	G	A	exonic	THAP9	.	nonsynonymous SNV	THAP9:NM_024672:exon3:c.G566A:p.R189Q,THAP9:NM_001317776:exon4:c.G134A:p.R45Q	.	437	1076	9	0	0	9	0.00416474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.00276774492125	0.0014	0.00119808	0.0020	0.0003	0.0005	0	0	0.0016	0	0.0078	0.0017982	278	154602	rs139068755	0.0019	0.0019	0.0017	0.0022	0.0069	0.0019	0.0019	0.0064	0.0063	0.0003	0.0006	0.0035	2.536e-05	0.0002	0.0048	0.0018	0.0013	0.0069	0.0009	0.0009	0.0009	0.0009	0.0044	0.0008	0.0007	0.0029	0.0024	0.0002	0	0.0005	0.0026	0	0	0.0034	0.0013	0.0009	0.0044	0.077	0.34095	T	0.0	0.92824	D	1.0	0.90584	D	0.982	0.75477	D	0.163303	0.17595	N	0.417709	0.957986	0.26241	N	0.57	0.15267	N	1.31	0.35405	T	-0.18	0.09796	N	0.138	0.13626	-1.0520	0.13845	T	0.112	0.40145	T	10	0.008771062	0.00199	T	0.002768	0.05752	T	0.145	0.38592	.	.	0.292787519742	0.28880	0.09280809653098553	0.09212	0.405451254551	0.41444	0.588347911835	0.51260	T	3.98E-4	0.00124	T	-0.411468	0.01944	T	-0.359817	0.38073	T	0.0251515415286468	0.01293	T	0.80372	0.45098	T	0.08750037	0.20377	0.087367915	0.20305	0.08750037	0.20377	0.087367915	0.20304	-3.588	0.17684	T	.	.	0.119	0.24464	B	.	.	2.715334	0.35499	19.92	0.99849987109519245	0.92925	0.70264	0.34519	D	AEFDGBHCI	0.173729	0.30083	N	0.330027533981842	0.57696	3.937941	0.331114383280492	0.57376	3.903135	0.999999997678546	0.74766	0.685219	0.55550	0	0.468431	0.06638	2	0.608884	0.39905	0	0.567892	0.33627	0	.	.	3.87	3.87	0.43823	2.879000	0.48220	4.601000	0.43997	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	11.637	0.50468	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.002924	0.000000	0.017241	0.006098	0.003788	0.02632	752.33	35	chr4	82906613	.	G	A	752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.625;DP=645;ExcessHet=0;FS=2.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.605;SOR=1.314	GT:AD:DP:GQ:PL	0/1:27,26:53:99:766,0,741	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	5164.61	38	chr4	87615730	.	ATAG	*	5164.61	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.227;DP=777;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.46;MQRankSum=-3.184;QD=9.56;ReadPosRankSum=1.92;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,9:15:99:0|1:87615730_ATAG_A:1464,313,225:87615730	5	3	10	1
chr4	87615731	87615731	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	147	40	1	11	27	50	0.223301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	118.42	38	chr4	87615731	.	T	*	118.42	.	AC=29;AF=0.763;AN=38;DP=779;ExcessHet=4.0268;FS=1.141;InbreedingCoeff=-0.2667;MLEAC=29;MLEAF=0.763;MQ=58.33;QD=0.23;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,9:15:88:1|1:87615730_ATAG_A:1239,88,0:87615730	1	11	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	4778.36	38	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	4778.36	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.944;DP=851;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.45;MQRankSum=-3.184;QD=9.26;ReadPosRankSum=2.06;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,9:15:99:0|1:87615730_ATAG_A:1448,298,252:87615730	5	3	10	1
chr4	87615740	87615740	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	108.23	38	chr4	87615740	.	C	*	108.23	.	AC=19;AF=0.5;AN=38;DP=820;ExcessHet=0.0541;FS=13.908;InbreedingCoeff=0.406;MLEAC=19;MLEAF=0.5;MQ=58.19;QD=0.43;SOR=1.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,9:15:46:1|1:87615730_ATAG_A:1196,46,0:87615730	7	7	5	0
chr4	87615746	87615746	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	138.23	38	chr4	87615746	.	C	*	138.23	.	AC=19;AF=0.5;AN=38;DP=817;ExcessHet=0.0541;FS=12.871;InbreedingCoeff=0.406;MLEAC=19;MLEAF=0.5;MQ=57.5;QD=0.56;SOR=1.278	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,9:15:46:1|1:87615730_ATAG_A:1196,46,0:87615730	7	7	5	0
chr4	87615749	87615767	CAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1015	436	27	4	40	75	0.0385888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1003.04	32	chr4	87615749	.	CAGCAGTGACAGCAGCGAT	*	1003.04	.	AC=13;AF=0.5;AN=26;BaseQRankSum=2.3;DP=810;ExcessHet=2.7716;FS=0.432;InbreedingCoeff=-0.3684;MLEAC=16;MLEAF=0.615;MQ=58.37;MQRankSum=-2.137;QD=3.37;ReadPosRankSum=0.68;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:15,6:21:99:.:.:252,0,606:.	2	2	9	6
chr4	89249875	89249875	G	T	exonic	GPRIN3	.	nonsynonymous SNV	GPRIN3:NM_198281:exon2:c.C236A:p.S79Y	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0112762485079	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs753838335	8.209e-06	8.209e-06	1.361e-06	1.513e-05	0.0002	4.38e-06	3.46e-06	3.765e-05	2.662e-05	0	0	0	2.519e-05	0	0.0002	2.698e-06	0	8.116e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.238	0.24549	T	0.964	0.55854	D	0.778	0.57212	P	0.317830	0.14323	N	0.522915	0.938648	0.26858	N	2.28	0.64929	M	2.82	0.10871	T	-2.75	0.58407	D	0.27	0.32812	-1.0796	0.07426	T	0.032	0.13723	T	10	0.26619315	0.44121	T	0.011276	0.28743	T	0.102	0.29158	0.226	0.15109	0.20549828249	0.20151	0.1577961695757472	0.15700	0.28731896017	0.31136	0.356104791164	0.18818	T	0.013092	0.11390	T	-0.303627	0.08322	T	-0.492388	0.23141	T	0.918883621692657	0.57735	D	0.508649	0.16166	T	0.18577647	0.39956	0.29181015	0.55206	0.18577647	0.39956	0.29181015	0.55205	-6.369	0.49267	T	.	.	0.124	0.26074	B	.;.	.;.	4.298038	0.65597	24.9	0.99386687301497345	0.62157	0.91950	0.54615	D	AEFBI	0.474651	0.51882	N	0.198464636475918	0.51126	3.296313	0.20601095963215	0.50182	3.21283	0.998928749782908	0.37985	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.07	5.07	0.68106	3.101000	0.49974	9.576000	0.81019	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.019000	0.11356	0.1251:0.0:0.8749:0.0	9.597	0.38745	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2614.33	42	chr4	89249875	.	G	T	2614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.568;DP=916;ExcessHet=0;FS=1.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.866;SOR=0.762	GT:AD:DP:GQ:PL	0/1:98,99:197:99:2628,0,2694	18	0	1	0
chr4	89936369	89936369	C	A	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon6:c.C2689A:p.Q897K,MMRN1:NM_001371403:exon7:c.C2689A:p.Q897K	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.021434612188	0.0042	0.00139776	0.0027	0.0010	0.0032	0	0.0006	0.0041	0.0011	0.0003	0.0030595	473	154602	rs41279299	0.0044	0.0044	0.0045	0.0043	0.0053	0.0044	0.0043	0.0052	0.0052	0.0008	0.0047	0.0026	0	0.0006	0.0023	0.0053	0.0034	0.0003	0.0040	0.0040	0.0037	0.0043	0.0102	0.0037	0.0036	0.0089	0.0084	0.0009	0.0263	0.0102	0.0029	0	0.0003	0.0034	0.0055	0.0038	0.0002	0.237	0.18823	T	0.197	0.27855	T	0.635	0.40310	P	0.07	0.27859	B	0.000034	0.55875	N	0.075995	0.668624	0.81001	D	2.125	0.59049	M	0.04	0.68030	T	-1.13	0.29114	N	0.202	0.22357	-0.8361	0.52904	T	0.142	0.46275	T	10	0.009439468	0.00213	T	0.021435	0.44208	T	0.074	0.21613	.	.	0.654164466603	0.65128	0.4188846547242236	0.41804	0.0126997293129	0.01221	0.38745701313	0.23311	T	0.117761	0.44796	T	-0.418934	0.01737	T	-0.37082	0.36793	T	0.022291232002842	0.00942	T	0.731327	0.34690	T	0.17085294	0.37685	0.13029161	0.31309	0.17085294	0.37684	0.13029161	0.31309	-3.354	0.14444	T	.	.	0.096	0.15296	B	.;.;.	.;.;.	1.918171	0.24361	16.37	0.96351445403611757	0.29516	0.91001	0.52667	D	AEFBI	0.594206	0.58923	D	0.069384772636987	0.45039	2.767205	0.158934367584728	0.47617	2.989285	0.15239994526857	0.17462	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.3	4.43	0.52967	3.535000	0.53331	3.214000	0.36817	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.996000	0.76049	0.1426:0.8574:0.0:0.0	15.646	0.76803	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2709.33	33	chr4	89936369	.	C	A	2709.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=825;ExcessHet=0;FS=1.083;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.6;SOR=0.776	GT:AD:DP:GQ:PL	0/1:102,98:200:99:2723,0,2734	18	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	4800.47	119	chr4	99318097	.	C	G	4800.47	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-2.037;DP=2929;ExcessHet=25.4433;FS=292.214;InbreedingCoeff=-0.7674;MLEAC=17;MLEAF=0.472;MQ=59.96;MQRankSum=0;QD=2.15;ReadPosRankSum=0.505;SOR=13.638	GT:AD:DP:GQ:PL	0/1:97,56:166:99:349,0,1676	2	0	16	1
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4767.86	165	chr4	99347057	.	C	G	4767.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.37;DP=2499;ExcessHet=31.086;FS=313.504;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=59.98;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.377;SOR=11.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,57:125:99:.:.:416,0,936:.	2	0	17	0
chr4	102596266	102596266	G	T	exonic	NFKB1	.	nonsynonymous SNV	NFKB1:NM_001382628:exon13:c.G1387T:p.V463F,NFKB1:NM_001165412:exon14:c.G1426T:p.V476F,NFKB1:NM_001319226:exon14:c.G1426T:p.V476F,NFKB1:NM_003998:exon14:c.G1429T:p.V477F,NFKB1:NM_001382625:exon15:c.G1429T:p.V477F,NFKB1:NM_001382626:exon15:c.G1429T:p.V477F,NFKB1:NM_001382627:exon15:c.G1426T:p.V476F	Immunodeficiency, common variable, 12, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	709094	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.009	0.00684638188584	0.0006	0.00119808	0.0002	0.0020	0.0002	0	0	0	0	0	0.000194	30	154602	rs56147914	6.022e-05	6.02e-05	6.4e-05	5.64e-05	0.0020	4.963e-05	4.628e-05	0.0016	0.0015	0.0020	0.0002	0	0	0	0.0002	8.996e-07	0.0002	0	0.0007	0.0007	0.0007	0.0006	0.0022	0.0006	0.0005	0.0018	0.0017	0.0022	0	0.0004	0	0	0	0	1.47e-05	0.0005	0	0.066	0.36113	T	0.058	0.46182	T	0.041	0.30696	B	0.005	0.27432	B	0.000147	0.00484	N	4.229120	1	0.08975	N	0	0.06538	N	1.22	0.37405	T	-0.54	0.16598	N	0.14	0.15609	-1.0585	0.12134	T	0.044	0.18989	T	10	0.0061025023	0.00137	T	0.006846	0.18093	T	0.009	0.00846	.	.	0.215239754934	0.21150	0.25234036665048754	0.25148	0.520469550833	0.49844	0.220669910312	0.01349	T	0.183831	0.53630	T	-0.625102	0.00102	T	-0.67593	0.07234	T	0.00365493877995755	0.00039	T	0.311569	0.06072	T	0.03093508	0.02843	0.05082034	0.08053	0.03093508	0.02842	0.05082034	0.08052	-4.595	0.32184	T	.	.	0.073	0.04847	B	.;.;.;.	.;.;.;.	-1.004989	0.00764	0.024	0.93111688192272379	0.22744	0.01617	0.05229	N	AEFBI	0.046760	0.07800	N	-1.41316640865936	0.02522	0.1114974	-1.50340316598381	0.02318	0.1064126	0.999691247404191	0.41870	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	2.18	-2.36	0.06282	-1.013000	0.03755	-0.894000	0.07016	-0.890000	0.02392	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4092:0.1981:0.3927:0.0	3.549	0.07393	957	0.09725	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	714.33	33	chr4	102596266	.	G	T	714.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.283;DP=685;ExcessHet=0;FS=3.333;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.377;SOR=0.975	GT:AD:DP:GQ:PL	0/1:36,31:67:99:728,0,842	18	0	1	0
chr4	102607660	102607660	T	G	exonic	NFKB1	.	nonsynonymous SNV	NFKB1:NM_001382628:exon18:c.T2094G:p.H698Q,NFKB1:NM_001165412:exon19:c.T2133G:p.H711Q,NFKB1:NM_001319226:exon19:c.T2133G:p.H711Q,NFKB1:NM_003998:exon19:c.T2136G:p.H712Q,NFKB1:NM_001382625:exon20:c.T2136G:p.H712Q,NFKB1:NM_001382626:exon20:c.T2136G:p.H712Q,NFKB1:NM_001382627:exon20:c.T2133G:p.H711Q	Immunodeficiency, common variable, 12, Autosomal dominant	423	1098	1	0	0	1	0.000455166	.	.	YES	709096	Immunodeficiency,_common_variable,_12|not_provided	MONDO:MONDO:0014697,MedGen:C4225277,OMIM:616576,Orphanet:1572|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.028	.	0.0062	0.00858626	0.0021	0.0236	0.0007	0	0	2.999e-05	0.0022	0	0.0021151	327	154602	rs4648099	0.0008	0.0008	0.0009	0.0007	0.0282	0.0007	0.0007	0.0267	0.0261	0.0282	0.0011	0	0	0	0.0010	2.158e-05	0.0018	5.797e-05	0.0078	0.0078	0.0074	0.0082	0.0276	0.0074	0.0073	0.0263	0.0257	0.0276	0	0.0019	0	0	0	0.0034	7.352e-05	0.0033	0	0.08	0.34982	T	0.065	0.44702	T	0.103	0.25884	B	0.088	0.29688	B	0.447373	0.04795	N	1.316220	0.999916	0.19599	N	0.55	0.14455	N	1.36	0.34452	T	-0.55	0.16799	N	0.101	0.11626	-0.9561	0.39898	T	0.021	0.08732	T	10	0.0038932562	0.00074	T	.	.	.	0.028	0.06331	0.257	0.19845	0.34707237187	0.34319	0.4842123765629883	0.48341	0.38900953364	0.40154	0.439216017723	0.30470	T	0.087522	0.37960	T	-0.701033	0.00036	T	-0.758812	0.03155	T	0.00628443959569375	0.00070	T	0.59884	0.23898	T	0.03883307	0.05250	0.059455123	0.11160	0.037986323	0.04973	0.048480406	0.07208	-6.505	0.50325	T	0.1422731500679324	0.16075	0.100	0.22680	B	.;.;.;.	.;.;.;.	-0.719468	0.01277	0.067	0.92596675252017435	0.22059	0.10083	0.15686	N	AEFBCI	0.090496	0.18338	N	-1.22076150606229	0.04699	0.2126587	-1.23400900713409	0.05372	0.2557936	0.999996139636681	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.15	-6.39	0.01778	-2.525000	0.01024	-12.827000	0.00498	-0.278000	0.06506	0.000000	0.06391	0.000000	0.08366	0.971000	0.54645	0.0:0.4766:0.0993:0.4241	9.698	0.39335	958	0.09170	.;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1923.33	34	chr4	102607660	.	T	G	1923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.923;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=0.625;SOR=0.674	GT:AD:DP:GQ:PL	0/1:62,74:136:99:1937,0,1531	18	0	1	0
chr4	103057848	103057848	A	C	exonic	SLC9B2	.	nonsynonymous SNV	SLC9B2:NM_001370199:exon4:c.T395G:p.L132W,SLC9B2:NM_001370200:exon4:c.T395G:p.L132W,SLC9B2:NM_001370201:exon4:c.T395G:p.L132W,SLC9B2:NM_001370202:exon4:c.T395G:p.L132W,SLC9B2:NM_001370206:exon4:c.T395G:p.L132W,SLC9B2:NM_001370207:exon4:c.T395G:p.L132W,SLC9B2:NM_178833:exon4:c.T395G:p.L132W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.0189161819818	0.0012	0.00199681	0.0003	0.0033	0.0002	0	0	1.499e-05	0	0	0.0003234	50	154602	rs146049580	9.237e-05	9.235e-05	0.0001	7.702e-05	0.0033	7.959e-05	7.433e-05	0.0028	0.0026	0.0033	0.0002	0	0	0	0	0	0.0002	0	0.0012	0.0012	0.0012	0.0011	0.0042	0.0010	0.0010	0.0037	0.0035	0.0042	0	6.537e-05	0	0	0	0	1.47e-05	0.0005	0	0.002	0.72154	D	0.005	0.79402	D	0.99	0.63424	D	0.733	0.55393	P	0.323916	0.14225	N	0.666661	1	0.81001	D	1.845	0.48678	L	1.73	0.26445	T	-3.11	0.74348	D	0.451	0.48872	-1.0155	0.25175	T	0.088	0.33885	T	10	0.008840948	0.00200	T	0.018916	0.41136	T	0.326	0.64826	.	.	0.48748946032	0.48381	0.8954046553753181	0.89511	0.159916185022	0.18041	0.288559615612	0.08713	T	0.235626	0.60292	T	-0.367857	0.03703	T	-0.300911	0.44628	T	0.101716950321856	0.12544	T	0.933907	0.75239	D	0.42891264	0.62681	0.5899113	0.76207	0.42891264	0.62681	0.5899113	0.76208	-11.865	0.84187	D	.	.	0.176	0.58120	B	.;.;.;.	.;.;.;.	4.455560	0.69304	25.4	0.95495762607619117	0.27077	0.95913	0.66695	D	AEFI	0.832558	0.75091	D	0.39440950601777	0.61118	4.308794	0.297829354982381	0.55412	3.704317	0.999990977883262	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.23	5.23	0.72570	8.371000	0.90020	10.729000	0.83637	0.691000	0.84096	0.999000	0.42656	0.995000	0.32472	0.702000	0.34203	1.0:0.0:0.0:0.0	15.422	0.74743	915	0.20917	Cation/H+ exchanger;Cation/H+ exchanger;Cation/H+ exchanger;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1374.33	33	chr4	103057848	.	A	C	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=723;ExcessHet=0;FS=1.65;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=-0.586;SOR=0.941	GT:AD:DP:GQ:PL	0/1:47,54:101:99:1388,0,1110	18	0	1	0
chr4	103149276	103149276	T	A	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon26:c.A3454T:p.M1152L,CENPE:NM_001813:exon27:c.A3529T:p.M1177L	.	.	.	.	.	.	.	.	.	.	.	709110	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.066	.	0.0082	0.0091853	0.0023	0.0248	0.0010	0	0	0.0002	0	6.058e-05	0.0022574	349	154602	rs35975325	0.0009	0.0009	0.0010	0.0008	0.0235	0.0009	0.0009	0.0221	0.0216	0.0235	0.0015	0	0	0	0.0014	0.0003	0.0021	2.323e-05	0.0070	0.0070	0.0070	0.0070	0.0239	0.0067	0.0065	0.0226	0.0222	0.0239	0	0.0034	0	0	0	0.0034	0.0002	0.0057	0	0.564	0.25154	T	0.321	0.30339	T	0.0	0.02946	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	0.145	0.08828	N	-0.33	0.68329	T	-0.37	0.13226	N	0.253	0.28616	-0.9630	0.38606	T	0.053	0.22307	T	9	0.002600491	0.00040	T	.	.	.	0.066	0.19193	0.115	0.02372	0.41767021734	0.41382	0.07787061413553172	0.07723	0.0370009060736	0.03923	0.255382537842	0.04355	T	0.036287	0.24046	T	-0.617097	0.00115	T	-0.639597	0.09699	T	0.00407801395287183	0.00043	T	0.414759	0.10842	T	0.027731422	0.02008	0.05482394	0.09501	0.028246472	0.02134	0.06206025	0.12083	-2.948	0.11250	T	0.17469170112005036	0.22200	0.108	0.23848	B	.;.;.	.;.;.	-1.848848	0.00141	0.002	0.59249909711060889	0.06180	0.08420	0.14351	N	AEFBHCI	0.061545	0.11774	N	-1.61419717599521	0.01195	0.05195815	-1.70400137286803	0.01120	0.05033725	0.999723791746667	0.42220	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	4.0	-5.43	0.02426	-2.740000	0.00869	-10.314000	0.00715	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.188000	0.21541	0.0:0.5932:0.1256:0.2812	10.245	0.42516	911	0.21964	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.010101	0.005435	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1291.33	34	chr4	103149276	.	T	A	1291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.927;DP=741;ExcessHet=0;FS=7.506;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=1.1;SOR=0.296	GT:AD:DP:GQ:PL	0/1:62,53:115:99:1305,0,1789	18	0	1	0
chr4	106328162	106328162	A	G	exonic	AIMP1	.	nonsynonymous SNV	AIMP1:NM_001142415:exon4:c.A310G:p.T104A,AIMP1:NM_001142416:exon4:c.A310G:p.T104A,AIMP1:NM_004757:exon4:c.A310G:p.T104A	Leukodystrophy, hypomyelinating, 3, Autosomal recessive	7	1514	1	0	0	1	0.000330142	.	.	.	439307	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.022	.	0.0110	0.0121805	0.0032	0.0354	0.0014	0	0	6.066e-05	0	6.095e-05	0.0030465	471	154602	rs113844295	0.0011	0.0011	0.0012	0.0009	0.0376	0.0010	0.0010	0.0358	0.0351	0.0376	0.0015	0	0	0	0.0028	3.508e-05	0.0026	0.0001	0.0097	0.0097	0.0100	0.0095	0.0340	0.0093	0.0092	0.0326	0.0320	0.0340	0	0.0026	0	0	0	0	0.0002	0.0066	0.0004	0.379	0.11227	T	1.0	0.03030	T	0.0	0.02946	B	0.001	0.04355	B	0.425704	0.12814	N	0.762528	1	0.08975	N	-0.02	0.05091	N	2.05	0.21119	T	-0.25	0.11008	N	0.055	0.02759	-0.9720	0.36776	T	0.006	0.01907	T	10	0.0024947822	0.00038	T	.	.	.	0.022	0.04323	.	.	0.0401082797425	0.02173	0.1285873372638987	0.12783	0.0248716413028	0.02533	0.27451479435	0.06739	T	0.008752	0.26014	T	-0.729801	0.00024	T	-0.796018	0.02004	T	0.000475777288470271	0.00004	T	0.271373	0.04588	T	0.017087849	0.00245	0.018542936	0.00059	0.020519927	0.00612	0.019943664	0.00111	-3.166	0.12070	T	.	.	0.06	0.00934	B	.;.;.;.	.;.;.;.	-0.927935	0.00880	0.032	0.25620170229873063	0.01190	0.01568	0.05122	N	AEFGBI	0.027580	0.02279	N	-1.65915286384923	0.00997	0.04322054	-1.69939839960999	0.01140	0.05126424	0.999985977278189	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.64	-3.82	0.04000	-0.564000	0.06027	-0.187000	0.11075	-0.058000	0.16670	0.005000	0.17040	0.000000	0.08366	0.004000	0.06068	0.3289:0.0:0.4308:0.2402	5.303	0.15097	778	0.48011	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004532	0.010101	0.006793	0.008772	0.000000	0.000000	0.000000	0.003788	0.02632	1360.33	35	chr4	106328162	.	A	G	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=762;ExcessHet=0;FS=1.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.58;SOR=0.826	GT:AD:DP:GQ:PL	0/1:77,58:135:99:1374,0,1808	18	0	1	0
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3529	1714.38	33	chr4	106925843	.	C	T	1714.38	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-3.035;DP=2024;ExcessHet=11.1788;FS=191.101;InbreedingCoeff=-0.5178;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.39;SOR=10.85	GT:AD:DP:GQ:PL	0/1:62,37:99:99:352,0,1086	5	0	12	2
chr4	125450461	125450461	G	A	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon10:c.G9451A:p.A3151T,FAT4:NM_001291303:exon10:c.G9451A:p.A3151T,FAT4:NM_024582:exon10:c.G9445A:p.A3149T	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	434	1073	14	1	0	16	0.00740056	.	.	.	1154647	not_provided|Van_Maldergem_syndrome_2|Hennekam_lymphangiectasia-lymphedema_syndrome_2|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0014242,MedGen:C3809875,OMIM:615546,Orphanet:314679|MONDO:MONDO:0014454,MedGen:C4014939,OMIM:616006,Orphanet:2136|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.198	0.0260561735066	.	0.00119808	0.0010	9.73e-05	0.0012	0	0	0.0002	0	0.0058	0.0008538	132	154602	rs200702071	0.0006	0.0006	0.0003	0.0009	0.0073	0.0006	0.0006	0.0069	0.0067	5.974e-05	0.0007	0.0003	0	0	0.0043	0.0001	0.0006	0.0073	0.0003	0.0003	0.0001	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	4.813e-05	0	0.0003	0.0003	0	0	0	0.0001	0.0005	0.0050	0.115	0.28520	T	0.002	0.79402	D	0.996	0.68779	D	0.974	0.73157	D	0.004256	0.33945	U	0.000000	0.999999	0.58761	D	0.445	0.12748	N	4.65	0.01779	T	-1.66	0.39692	N	0.695	0.72567	-0.7350	0.58710	T	0.015	0.05801	T	10	0.01102519	0.00243	T	0.026056	0.48995	D	0.198	0.48105	.	.	0.290620346082	0.28682	0.36765165551382717	0.36679	0.617822451244	0.56206	0.523877620697	0.42172	T	0.107979	0.42063	T	-0.348199	0.04842	T	-0.269214	0.47899	T	0.0937693102262375	0.11658	T	0.825917	0.49290	T	0.12891804	0.30125	0.158434	0.36999	0.1325611	0.30863	0.18357684	0.41355	-4.712	0.33549	T	.	.	0.087	0.11124	B	.;.	.;.	4.516199	0.70766	25.6	0.9954740962009726	0.70898	0.98472	0.83137	D	AEFBI	0.851958	0.76885	D	0.461041065819955	0.64832	4.74687	0.475819197424425	0.66391	4.946012	0.999977619458591	0.50053	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	7.800000	0.84516	11.821000	0.97240	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.773000	0.36634	0.0:0.0:0.8537:0.1463	14.536	0.67551	922	0.19044	Cadherin-like|Cadherin-like;.	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	3285.33	127	chr4	125450461	.	G	A	3285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=2608;ExcessHet=0;FS=1.032;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=1.57;SOR=0.618	GT:AD:DP:GQ:PL	0/1:109,113:222:99:3299,0,3140	18	0	1	0
chr4	125491292	125491292	T	C	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon18:c.T14473C:p.S4825P,FAT4:NM_001291303:exon18:c.T14476C:p.S4826P,FAT4:NM_024582:exon18:c.T14470C:p.S4824P	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1437276	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.456	0.14300129693	7.7e-05	.	4.14e-05	0	0	0	0	3.009e-05	0	0.0002	3.23e-05	5	154602	rs374891029	1.642e-05	1.642e-05	8.167e-06	2.475e-05	0.0009	1.111e-05	9.33e-06	0.0003	0.0002	0	0	0	0	0	0.0009	9.892e-06	0	9.275e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0.0032	4.41e-05	0	0	0.147	0.24955	T	0.0	0.92824	D	0.998	0.77913	D	0.991	0.84481	D	0.004019	0.34221	U	0.000000	0.999996	0.58761	D	0.805	0.20218	L	-0.94	0.77466	T	-1.12	0.42763	N	0.639	0.67218	-0.0170	0.81901	T	0.535	0.82815	D	10	0.6524658	0.69682	D	0.143001	0.82535	D	0.456	0.75483	.	.	0.612969470845	0.60985	0.3586622134079033	0.35780	0.725430536437	0.62450	0.815147519112	0.84282	D	0.063491	0.32189	T	0.0472431	0.57987	T	0.0327389	0.72456	D	0.671830654144287	0.39419	D	0.873813	0.58316	D	0.39394388	0.60311	0.24369691	0.49819	0.39394388	0.60311	0.24369691	0.49818	-2.516	0.06375	T	.	.	0.421	0.60714	A	.;.	.;.	3.975509	0.58407	24.0	0.989160715666068	0.48472	0.99539	0.97221	D	AEFBI	0.932667	0.92336	D	0.528027294069736	0.68753	5.260858	0.491649972465575	0.67436	5.083727	0.99977195124619	0.42865	0.562547	0.31514	0	0.573888	0.26702	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	4.97	4.97	0.65419	7.487000	0.80243	5.809000	0.49993	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.847000	0.40026	0.0:0.0:0.0:1.0	13.865	0.63082	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1411.33	72	chr4	125491292	.	T	C	1411.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.812;DP=1440;ExcessHet=0;FS=1.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.654;SOR=0.54	GT:AD:DP:GQ:PL	0/1:62,52:114:99:1425,0,1711	18	0	1	0
chr4	127704251	127704251	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1527C:p.R509S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	0.0294672289301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.861e-07	6.84e-07	0	1.38e-06	2.522e-05	0	0	.	.	0	0	0	2.522e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.74	0.80084	M	1.53	0.30401	T	-3.69	0.70432	D	0.946	0.95374	-0.9212	0.45390	T	0.161	0.49581	T	10	0.8873946	0.88071	D	0.029467	0.51971	D	0.422	0.73078	0.632	0.76810	0.600287769981	0.59710	0.7881439270302629	0.78766	0.561931678665	0.52692	0.684287190437	0.64885	T	0.802902	0.94994	D	0.206707	0.74521	D	0.0591445	0.74188	D	0.99298083782196	0.83620	D	0.931307	0.74459	D	0.6339207	0.74507	0.4426484	0.67508	0.6339207	0.74508	0.4426484	0.67508	-12.454	0.86992	D	0.7346386116156443	0.81645	0.919	0.84130	P	.	.	3.328126	0.45808	22.2	0.99730259453219516	0.82690	0.92757	0.56471	D	AEFI	0.467728	0.51483	N	0.374202189461738	0.60026	4.18743	0.274963314411494	0.54081	3.574282	3.07637346592026E-5	0.03498	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	1.26	0.20534	2.073000	0.41144	2.000000	0.30117	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.553:0.0:0.447:0.0	9.093	0.35784	897	0.25382	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1471	332.36	30	chr4	127704251	.	G	C	332.36	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-2.31;DP=979;ExcessHet=1.3;FS=250.412;InbreedingCoeff=-0.1783;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=1.02;ReadPosRankSum=-0.241;SOR=10.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,22:69:71:.:.:71,0,736:.	12	0	5	2
chr4	134199956	134199956	C	T	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G1064A:p.R355H,PABPC4L:NM_001363585:exon2:c.G1064A:p.R355H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226665779072	0.0004	0.000399361	0.0001	0.0009	0	0	0	0	0	0	2.59e-05	4	154602	rs373992035	1.929e-05	2.052e-05	1.833e-05	2.028e-05	0.0005	1.321e-05	1.133e-05	0.0003	0.0002	0.0005	0.0003	0	0	0	0	9.268e-07	1.724e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	0.224	0.25591	T	0.998	0.73220	D	0.88	0.62516	P	.	.	.	.	0.991522	0.41409	D	0.285	0.10073	N	2.32	0.16640	T	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	0.05079794	0.04867	T	0.022667	0.45580	T	.	.	.	.	0.51469891142	0.51112	0.6826217229310281	0.68201	.	.	0.299932777882	0.10391	T	0.027708	0.20231	T	-0.407889	0.02053	T	-0.442953	0.28477	T	.	.	.	0.886911	0.61435	D	0.039127454	0.05343	0.10066907	0.24077	0.039127454	0.05343	0.10066907	0.24077	-5.902	0.45453	T	.	.	0.091	0.13080	B	.	.	3.358538	0.46356	22.3	0.7332315674579476	0.10286	0.91001	0.52667	D	AEFDBI	0.409572	0.48080	N	.	.	.	.	.	.	0.999999733153597	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.18	2.46	0.29032	3.201000	0.50761	-0.019000	0.12951	-0.285000	0.06363	0.995000	0.38783	0.000000	0.08366	0.848000	0.40082	0.0:0.8086:0.0:0.1914	8.564	0.32688	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	488.94	75	chr4	134199956	.	C	T	488.94	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-1.052;DP=1203;ExcessHet=2.0135;FS=205.961;InbreedingCoeff=-0.2737;MLEAC=7;MLEAF=0.233;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=0;SOR=7.589	GT:AD:DP:GQ:PL	0/1:45,24:69:99:134,0,772	9	0	6	4
chr4	137530243	137530243	G	A	exonic	PCDH18	.	nonsynonymous SNV	PCDH18:NM_001300828:exon1:c.C1846T:p.L616F,PCDH18:NM_019035:exon1:c.C1846T:p.L616F	.	422	1065	33	2	0	37	0.0170743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	.	0.0053	0.00499201	0.0046	0.0080	0.0029	0	0.0014	0.0039	0.0066	0.0100	0.004379	677	154602	rs74512322	0.0047	0.0047	0.0045	0.0050	0.0205	0.0046	0.0046	0.0175	0.0163	0.0085	0.0028	0.0034	0	0.0010	0.0205	0.0045	0.0055	0.0104	0.0045	0.0045	0.0048	0.0043	0.0104	0.0042	0.0041	0.0081	0.0073	0.0064	0.0033	0.0022	0.0017	0	0.0010	0.0306	0.0043	0.0099	0.0104	0.051	0.39334	T	0.028	0.55341	D	0.003	0.23653	B	0.019	0.36391	B	0.026242	0.25951	N	0.184300	0.997932	0.81001	D	1.995	0.54099	M	0.61	0.53516	T	-3.5	0.68178	D	0.285	0.41162	-0.7214	0.59394	T	0.170	0.51101	T	10	0.01097846	0.00242	T	.	.	.	0.159	0.41286	.	.	0.635465298753	0.63247	0.6266247032032225	0.62595	0.128549610524	0.14494	0.497563928366	0.38489	T	0.284	0.65687	T	-0.474932	0.00792	T	-0.447021	0.28026	T	0.0418836800110794	0.04033	T	0.876612	0.58915	D	0.29476544	0.52432	0.28233165	0.54221	0.29476544	0.52432	0.28233165	0.54220	-6.488	0.50194	T	.	.	0.169	0.48156	B	.;.;.	.;.;.	3.206075	0.43621	21.8	0.99352932025997598	0.60656	0.87495	0.47053	D	AEFBHCI	.	.	.	0.0827075386403198	0.45657	2.818593	0.187786125238016	0.49178	3.124076	0.999999994461327	0.74766	0.627647	0.40530	0	0.588015	0.36545	0	0.672317	0.60874	0	0.567892	0.33627	0	.	.	5.8	4.95	0.64894	1.977000	0.40211	8.427000	0.77162	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0736:0.0:0.9264:0.0	13.982	0.63823	986	0.02773	Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.020202	0.010870	0.014620	0.050000	0.025862	0.012195	0.003788	0.07895	10495.8	33	chr4	137530243	.	G	A	10495.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.184;DP=1355;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.135;SOR=0.701	GT:AD:DP:GQ:PL	0/1:130,139:269:99:3807,0,3712	16	0	3	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	7878.87	96	chr4	140563137	.	C	G	7878.87	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.322;DP=1983;ExcessHet=31.086;FS=206.252;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0;SOR=12.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,35:97:99:.:.:576,0,1604:.	2	0	17	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	9144.3	96	chr4	140563138	.	C	G	9144.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.858;DP=1991;ExcessHet=38.2876;FS=239.142;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=-0.093;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,43:102:99:.:.:602,0,1600:.	1	0	18	0
chr4	153712573	153712573	A	-	exonic	RNF175	.	frameshift deletion	RNF175:NM_173662:exon8:c.768delT:p.H257Mfs*26	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	.	0.0008	0	0.0003	0	0	0.0014	0	0	0.0005886	91	154602	rs748534464	0.0006	0.0006	0.0006	0.0006	0.0017	0.0005	0.0005	0.0009	0.0007	0.0001	0.0006	0.0134	0	0	0.0017	0.0003	0.0015	8.163e-05	0.0007	0.0007	0.0007	0.0006	0.0012	0.0006	0.0005	0.0008	0.0007	7.217e-05	0	0.0012	0.0132	0	0	0	0.0005	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2468.29	33	chr4	153712572	.	GA	G	2468.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.998;DP=879;ExcessHet=0;FS=0.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.65;ReadPosRankSum=-1.162;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,64:114:99:0|1:153712572_GA_G:2482,0,1891:153712572	18	0	1	0
chr4	153712577	153712577	C	G	splicing	RNF175	NM_173662:exon8:c.765-1G>C	.	.	.	424	1091	7	0	0	7	0.00319781	1.0000	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0008	0	0.0003	0	0	0.0014	0	0	0.0005886	91	154602	rs201624616	0.0006	0.0006	0.0006	0.0006	0.0017	0.0005	0.0005	0.0009	0.0007	0.0001	0.0006	0.0134	0	0	0.0017	0.0003	0.0015	8.181e-05	0.0007	0.0007	0.0007	0.0006	0.0012	0.0006	0.0005	0.0008	0.0007	7.217e-05	0	0.0012	0.0133	0	0	0	0.0005	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180841	0.72120	D	0.384	0.91568	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.316225	0.66020	24.9	0.99501987502154821	0.68089	0.98373	0.82117	D	AEFI	.	.	.	1.10981550956187	0.98312	17.94131	0.94201250299524	0.97156	15.67585	0.999999998906334	0.74766	0.164513	0.03853	0	0.059962	0.00310	0	0.183335	0.04453	0	0.058706	0.01089	0	0.987031	0.95367	4.69	4.69	0.58546	5.683000	0.67852	3.321000	0.37545	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.937	0.79508	655	0.62421	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2465.33	33	chr4	153712577	.	C	G	2465.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.602;DP=870;ExcessHet=0;FS=0.701;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.44;ReadPosRankSum=-0.644;SOR=0.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,64:115:99:0|1:153712572_GA_G:2479,0,1929:153712572	18	0	1	0
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I,PALLD:NM_001367569:exon4:c.G255A:p.M85I,PALLD:NM_001166110:exon5:c.G915A:p.M305I,PALLD:NM_001367568:exon5:c.G306A:p.M102I,PALLD:NM_001367570:exon5:c.G306A:p.M102I,PALLD:NM_001166109:exon12:c.G1230A:p.M410I,PALLD:NM_016081:exon13:c.G2376A:p.M792I,PALLD:NM_001166108:exon14:c.G2427A:p.M809I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	1481.95	34	chr4	168898669	.	G	A	1481.95	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.403;DP=1273;ExcessHet=2.9153;FS=130.099;InbreedingCoeff=-0.2258;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=2.62;ReadPosRankSum=0.622;SOR=10.1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,25:77:99:0|1:168898668_T_C:311,0,936:168898668	13	0	6	0
chr4	170069224	170069224	C	T	exonic	AADAT	.	nonsynonymous SNV	AADAT:NM_016228:exon7:c.G727A:p.V243I,AADAT:NM_001286682:exon8:c.G739A:p.V247I,AADAT:NM_001286683:exon8:c.G727A:p.V243I,AADAT:NM_182662:exon8:c.G727A:p.V243I	.	435	1074	13	0	0	13	0.00601573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0062	0.000599042	0.0074	0.0016	0.0010	0.0001	0.0072	0.0112	0.0047	0.0042	0.0071668	1108	154602	rs56350236	0.0082	0.0082	0.0083	0.0081	0.0096	0.0081	0.0080	0.0094	0.0093	0.0013	0.0013	0.0018	0	0.0075	0.0038	0.0096	0.0060	0.0047	0.0062	0.0062	0.0065	0.0059	0.0090	0.0058	0.0057	0.0084	0.0081	0.0019	0.1557	0.0020	0.0026	0	0.0042	0	0.0090	0.0028	0.0046	0.151	0.24758	T	0.186	0.28860	T	0.0	0.02946	B	0.001	0.04355	B	0.200383	0.16615	N	0.646743	0.998651	0.23976	N	0.71	0.18616	N	0.98	0.42122	T	-0.71	0.20145	N	0.04	0.01347	-1.0461	0.15505	T	0.046	0.19640	T	10	0.0036104321	0.00065	T	.	.	.	0.042	0.11227	.	.	0.234412748748	0.23057	0.3100861838158231	0.30921	0.684812685529	0.60241	0.238241866231	0.02634	T	0.478648	0.80838	T	-0.665037	0.00059	T	-0.716379	0.04972	T	0.00381639220226568	0.00040	T	0.756024	0.37907	T	0.15386915	0.34857	0.07422501	0.16214	0.15386915	0.34857	0.07422501	0.16214	-5.023	0.37089	T	.	.	0.097	0.15877	B	.;.;.;.	.;.;.;.	1.259785	0.16572	12.63	0.9611711693001197	0.28762	0.26903	0.23126	N	AEFBI	0.143250	0.26590	N	-0.694861612975304	0.16168	0.8213038	-0.605926738148207	0.19340	1.037213	0.0147704955087043	0.12635	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	5.24	3.51	0.39297	0.459000	0.21619	-2.929000	0.03220	0.599000	0.40250	0.054000	0.21560	0.000000	0.08366	0.889000	0.42754	0.0:0.7432:0.1239:0.1329	8.475	0.32166	656	0.62345	Aminotransferase, class I/classII;.;Aminotransferase, class I/classII;Aminotransferase, class I/classII	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002523	0.000000	0.001359	0.000000	0.000000	0.008621	0.015432	0.000000	0.02632	1177.33	34	chr4	170069224	.	C	T	1177.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=734;ExcessHet=0;FS=0.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.228;SOR=0.839	GT:AD:DP:GQ:PL	0/1:52,46:98:99:1191,0,1349	18	0	1	0
chr4	185247310	185247310	A	G	exonic	SNX25	.	nonsynonymous SNV	SNX25:NM_001378032:exon2:c.A446G:p.N149S,SNX25:NM_001378034:exon2:c.A446G:p.N149S,SNX25:NM_001378035:exon2:c.A446G:p.N149S,SNX25:NM_001378036:exon2:c.A446G:p.N149S,SNX25:NM_001378037:exon2:c.A446G:p.N149S,SNX25:NM_001378038:exon2:c.A446G:p.N149S,SNX25:NM_001378039:exon2:c.A446G:p.N149S,SNX25:NM_001378040:exon2:c.A446G:p.N149S	.	666	824	26	6	0	38	0.0225386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0066	0.00978435	0.0098	0.0020	0.0026	0	0.0023	0.0077	0.0132	0.0360	0.0093466	1445	154602	rs74883877	0.0096	0.0098	0.0088	0.0105	0.0351	0.0095	0.0095	0.0340	0.0336	0.0013	0.0037	0.0039	0.0001	0.0025	0.0140	0.0090	0.0092	0.0351	0.0062	0.0062	0.0061	0.0064	0.0333	0.0059	0.0057	0.0290	0.0274	0.0014	0	0.0065	0.0026	0.0002	0.0031	0.0136	0.0082	0.0095	0.0333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	2711.79	35	chr4	185247310	.	A	G	2711.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.159;DP=823;ExcessHet=0.3672;FS=0.497;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.006;SOR=0.756	GT:AD:DP:GQ:PL	0/1:64,41:105:99:1026,0,1753	16	0	3	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1944	1715.13	137	chr4	189957425	.	A	G	1715.13	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-0.209;DP=2042;ExcessHet=2.9153;FS=2.505;InbreedingCoeff=-0.2471;MLEAC=7;MLEAF=0.194;MQ=46.97;MQRankSum=-1.588;QD=2.23;ReadPosRankSum=-0.709;SOR=0.94	GT:AD:DP:GQ:PL	0/1:116,19:135:99:115,0,3481	11	0	7	1
chr5	16701687	16701687	A	G	exonic	MYO10	.	nonsynonymous SNV	MYO10:NM_012334:exon25:c.T2708C:p.M903T	.	424	1053	43	2	0	47	0.02183	.	.	.	721367	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0067	0.00559105	0.0087	0.0013	0.0033	0	0.0154	0.0095	0.0125	0.0155	0.0083893	1297	154602	rs112696559	0.0090	0.0090	0.0088	0.0092	0.0163	0.0089	0.0088	0.0156	0.0153	0.0011	0.0030	0.0128	0	0.0134	0.0116	0.0089	0.0086	0.0163	0.0069	0.0069	0.0065	0.0073	0.0135	0.0065	0.0064	0.0108	0.0099	0.0019	0	0.0048	0.0135	0.0004	0.0166	0.0068	0.0087	0.0057	0.0135	0.4	0.13610	T	0.554	0.18449	T	0.023	0.18885	B	0.006	0.12133	B	.	.	.	.	0.964229	0.28599	N	0.69	0.16971	N	3.74	0.03951	T	-0.92	0.24676	N	0.378	0.41952	-0.9571	0.39717	T	0.006	0.02168	T	9	0.0068617463	0.00156	T	.	.	.	0.058	0.16647	.	.	0.194818534648	0.19098	0.22097497657065052	0.22012	0.21400552023	0.23928	0.455447763205	0.32688	T	0.021735	0.35061	T	-0.542244	0.00325	T	-0.538047	0.18489	T	0.00228667530795449	0.00024	T	0.79692	0.45144	T	0.126287	0.29583	0.11764603	0.28399	0.126287	0.29583	0.11764603	0.28398	-4.884	0.35555	T	.	.	0.386	0.58768	A	.;.;.;.	.;.;.;.	2.563368	0.33199	19.27	0.81753118547958681	0.13842	0.94846	0.62532	D	AEFBI	0.535976	0.55438	D	-0.555200458049924	0.20321	1.070366	-0.3518589487953	0.26451	1.461131	0.999976648366733	0.50053	0.722319	0.85440	0	0.573888	0.26702	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.0	3.82	0.43153	3.747000	0.54853	3.430000	0.38309	-0.095000	0.16041	1.000000	0.71638	0.989000	0.31174	0.980000	0.58198	0.7044:0.1512:0.0:0.1444	7.293	0.25554	814	0.42100	Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain	.	.	.	.	rs112696559	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.000000	0.002717	0.011696	0.000000	0.000000	0.009146	0.034091	0.05263	2988.83	43	chr5	16701687	.	A	G	2988.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.248;DP=886;ExcessHet=0.119;FS=0.514;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.206;SOR=0.628	GT:AD:DP:GQ:PL	0/1:46,63:109:99:1762,0,1265	17	0	2	0
chr5	33467652	33467652	G	A	exonic	TARS1	.	nonsynonymous SNV	TARS1:NM_152295:exon19:c.G2116A:p.E706K,TARS1:NM_001258437:exon20:c.G2116A:p.E706K,TARS1:NM_001258438:exon20:c.G2215A:p.E739K	.	430	1089	3	0	0	3	0.00137552	.	.	.	3920174	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.190	0.0453396451804	.	0.000199681	0.0001	0	0	0	0	0	0	0.0010	0.0001164	18	154602	rs551944947	8.552e-05	8.619e-05	4.356e-05	0.0001	0.0013	7.313e-05	6.816e-05	0.0011	0.0010	0	0	0	0	0	0.0002	6.295e-06	6.624e-05	0.0013	4.597e-05	4.594e-05	2.57e-05	6.716e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	0.221	0.25873	T	0.634	0.07105	T	0.015	0.17086	B	0.009	0.14300	B	0.012977	0.28994	N	0.394944	0.554208	0.31310	N	1.39	0.34934	L	-1.57	0.81900	D	-1.56	0.37759	N	0.184	0.26233	-0.5588	0.66450	T	0.350	0.71423	T	10	0.04053265	0.02629	T	0.04534	0.61931	D	0.190	0.46781	0.488	0.57257	0.76264847454	0.76048	0.3942654465493409	0.39341	0.220874062354	0.24639	0.338948518038	0.16280	T	0.023887	0.18153	T	-0.293008	0.09336	T	-0.234196	0.51364	T	0.0531107604025111	0.06039	T	0.792521	0.43410	T	0.115907915	0.27345	0.13661268	0.32676	0.115907915	0.27345	0.13661268	0.32675	-4.41	0.29693	T	0.1779580171577527	0.22783	0.075	0.05447	B	.;.;.	.;.;.	2.064930	0.26254	17.05	0.99105584548120096	0.52597	0.87530	0.47099	D	AEFBCI	0.752211	0.69278	D	-0.548238631325978	0.20539	1.083477	-0.478068857916935	0.22758	1.237751	0.999985858854824	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.2	3.39	0.37919	2.854000	0.48024	1.883000	0.29465	0.676000	0.76740	0.888000	0.31154	0.923000	0.28366	0.605000	0.31514	0.1392:0.1212:0.7396:0.0	9.142	0.36072	734	0.53889	Anticodon-binding;Anticodon-binding;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1054.33	35	chr5	33467652	.	G	A	1054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.164;DP=750;ExcessHet=0;FS=0.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.81;ReadPosRankSum=-1.003;SOR=0.79	GT:AD:DP:GQ:PL	0/1:84,51:135:99:1068,0,2037	18	0	1	0
chr5	52893732	52893732	A	C	exonic	ITGA1	.	nonsynonymous SNV	ITGA1:NM_181501:exon9:c.A982C:p.K328Q	.	438	1053	29	2	0	33	0.0154278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	.	0.0014	0.00159744	0.0033	0.0002	0.0007	0.0002	0	0.0022	0.0033	0.0147	0.002859	442	154602	rs150009527	0.0020	0.0020	0.0015	0.0025	0.0149	0.0019	0.0019	0.0142	0.0139	0.0001	0.0004	0.0292	2.524e-05	0	0.0066	0.0005	0.0035	0.0149	0.0015	0.0015	0.0013	0.0017	0.0114	0.0013	0.0013	0.0090	0.0081	0.0003	0	0.0005	0.0291	0.0004	0	0	0.0006	0.0028	0.0114	0.086	0.32610	T	0.213	0.26467	T	0.116	0.26475	B	0.167	0.35118	B	0.000071	0.52346	D	0.168708	0.997134	0.43655	D	0.845	0.21182	L	-1.72	0.83241	D	-2.82	0.59545	D	0.186	0.20262	-0.4076	0.71787	T	0.403	0.75388	T	10	0.008489013	0.00192	T	.	.	.	0.277	0.59375	.	.	0.814982974235	0.81323	0.7904183510822229	0.78993	0.181561313923	0.20410	0.363239347935	0.19856	T	0.493714	0.81715	T	-0.419428	0.01725	T	-0.362282	0.37787	T	0.0276256007752138	0.01633	T	0.889211	0.62120	D	0.71762663	0.79030	0.43571326	0.67048	0.71762663	0.79031	0.43571326	0.67048	-9.296	0.69582	D	.	.	0.121	0.25034	B	.	.	3.379304	0.46730	22.3	0.98850089377460615	0.47271	0.88584	0.48580	D	AEBI	0.654059	0.62687	D	-0.108549905968052	0.37020	2.147875	0.052388413383367	0.42188	2.547394	0.999813034824553	0.43459	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.550183	0.17644	0	.	.	5.7	4.53	0.55009	2.859000	0.48063	6.987000	0.57147	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.866:0.134:0.0:0.0	13.075	0.58496	715	0.56137	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	0.006042	0.000000	0.002717	0.014620	0.000000	0.008621	0.009146	0.007576	0.05263	2956.83	35	chr5	52893732	.	A	C	2956.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.756;DP=821;ExcessHet=0.119;FS=7.683;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.721;SOR=1.143	GT:AD:DP:GQ:PL	0/1:58,66:124:99:1727,0,1350	17	0	2	0
chr5	69320263	69320263	G	A	exonic	CCDC125	.	nonsynonymous SNV	CCDC125:NM_001297696:exon2:c.C278T:p.S93F,CCDC125:NM_176816:exon2:c.C278T:p.S93F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0138006741632	.	.	0.0002	0	0	0	0	0	0	0.0014	0.0001488	23	154602	rs752672711	7.459e-05	7.525e-05	3.677e-05	0.0001	0.0013	6.317e-05	5.875e-05	0.0011	0.0010	0	0	0	0	0	0	0	1.657e-05	0.0013	5.915e-05	5.91e-05	2.569e-05	9.418e-05	0.0019	3.078e-05	2.21e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.028	0.46129	D	0.053	0.47336	T	0.662	0.40950	P	0.329	0.44785	B	0.819246	0.06874	N	1.084380	1	0.08975	N	.	.	.	2.56	0.15261	T	-2.57	0.58248	D	0.175	0.18784	-1.0151	0.25304	T	0.054	0.22883	T	10	0.012339532	0.00266	T	0.013801	0.33474	T	0.018	0.03083	0.217	0.13788	0.0297737177859	0.01360	0.09275151135037579	0.09207	0.198554563414	0.22235	0.268309116364	0.05922	T	0.039304	0.39876	T	-0.558915	0.00258	T	-0.616152	0.11490	T	0.147291120770091	0.16886	T	.	.	.	0.07245667	0.16118	0.089833386	0.21030	0.07245667	0.16118	0.089833386	0.21030	-4.463	0.30401	T	.	.	0.129	0.27821	B	.;.;.	.;.;.	1.005237	0.13839	10.39	0.85344219184416015	0.15834	0.04614	0.10274	N	AEFI	0.072530	0.14477	N	-0.440392635487778	0.24067	1.296915	-0.57597990631132	0.20121	1.082585	1.43848022652935E-4	0.05573	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.24	2.41	0.28644	1.102000	0.30662	1.011000	0.23332	0.674000	0.70861	0.001000	0.13787	0.000000	0.08366	0.380000	0.26335	0.1788:0.1618:0.6594:0.0	5.634	0.16801	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4301.81	33	chr5	69320263	.	G	A	4301.81	.	AC=2;AF=0.053;AN=38;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.51;SOR=1.187	GT:AD:DP:GQ:PL	1/1:0,141:141:99:4329,423,0	18	1	0	0
chr5	75118147	75118147	C	T	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon17:c.G3856A:p.A1286T,ANKRD31:NM_001372053:exon18:c.G4027A:p.A1343T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0170466889119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.549	0.09522	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.79	0.46772	L	0.2	0.60111	T	-0.84	0.22944	N	0.2	0.22098	-0.9397	0.42664	T	0.156	0.48807	T	7	0.075415164	0.11654	T	0.017047	0.38587	T	0.030	0.07022	0.41	0.44559	0.16115917748	0.15686	0.059974397443567196	0.05937	.	.	0.255921125412	0.04417	T	0.001413	0.00874	T	-0.16856	0.25451	T	-0.479901	0.24457	T	0.102390711655354	0.12618	T	0.70163	0.31127	T	0.029978456	0.02583	0.05316264	0.08901	0.029978456	0.02582	0.05316264	0.08900	-2.696	0.07269	T	.	.	0.069	0.06756	B	.;.	.;.	0.698953	0.10679	7.373	0.95966972190481337	0.28317	0.01759	0.05532	N	AEFI	0.046822	0.07819	N	-0.47004577047244	0.23065	1.236072	-0.603180281463711	0.19411	1.041312	5.72977320847864E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.27	1.24	0.20416	0.071000	0.14461	0.026000	0.13662	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.871000	0.41478	0.1963:0.5195:0.1761:0.108	2.682	0.04781	806	0.43582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1389	920.7	35	chr5	75118147	.	C	T	920.7	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-2.889;DP=1710;ExcessHet=1.3;FS=99.544;InbreedingCoeff=-0.1753;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.07;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,37:173:99:0|1:75118147_C_T:307,0,4047:75118147	13	0	5	1
chr5	75659324	75659324	T	G	exonic	ANKDD1B	.	nonsynonymous SNV	ANKDD1B:NM_001276713:exon10:c.T1038G:p.N346K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0734814375015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.226e-07	6.84e-07	0	1.464e-06	1.262e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.18178	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.555	0.15161	N	-0.22	0.66474	T	.	.	.	0.229	0.25745	.	.	.	.	.	.	.	0.079598695	0.12823	T	0.073481	0.71800	D	.	.	.	.	0.186928172975	0.18263	0.35437980727877944	0.35351	.	.	0.4091103971	0.26333	T	0.003709	0.03121	T	-0.227257	0.17013	T	-0.564215	0.15983	T	0.176547160203705	0.19015	T	0.834017	0.50309	T	0.12099847	0.28462	0.2302991	0.48128	0.12099847	0.28462	0.2302991	0.48127	-7.696	0.58980	D	.	.	0.442	0.61786	A	.	.	1.302560	0.17048	12.93	0.88522885112440874	0.18043	0.08239	0.14194	N	AEFGI	0.090723	0.18381	N	-0.847197721998318	0.12119	0.5888156	-0.983199924682167	0.10162	0.5100919	0.732302282640372	0.23068	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.38	-4.27	0.03486	-0.123000	0.10586	-1.565000	0.05159	-0.123000	0.13640	0.940000	0.32642	0.001000	0.17328	0.801000	0.37776	0.0:0.5981:0.0:0.4019	14.873	0.70115	951	0.11083	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1662.33	33	chr5	75659324	.	T	G	1662.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.314;DP=771;ExcessHet=0;FS=0.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-1.077;SOR=0.765	GT:AD:DP:GQ:PL	0/1:81,70:151:99:1676,0,2168	18	0	1	0
chr5	76954073	76954073	G	A	exonic	CRHBP	.	nonsynonymous SNV	CRHBP:NM_001882:exon3:c.G220A:p.A74T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.0164909750849	0.0014	0.00159744	0.0004	0.0045	8.649e-05	0	0	0	0	0	0.0003558	55	154602	rs115716724	0.0001	0.0001	0.0001	0.0001	0.0050	0.0001	0.0001	0.0044	0.0041	0.0050	8.947e-05	0	0	0	0	0	0.0002	0	0.0011	0.0011	0.0011	0.0012	0.0040	0.0010	0.0009	0.0035	0.0033	0.0040	0	0.0003	0	0	0	0	0	0.0009	0	0.117	0.29288	T	0.015	0.63109	D	0.986	0.63424	D	0.732	0.59825	P	0.000021	0.62929	D	0.115882	1	0.81001	D	2.495	0.72670	M	.	.	.	-1.59	0.38345	N	0.6	0.61933	-0.2413	0.76592	T	0.301	0.67242	T	9	0.008745402	0.00198	T	0.016491	0.37771	T	0.267	0.58126	.	.	0.460303613973	0.45655	0.7472788504755675	0.74673	1.22297786382	0.81132	0.552680134773	0.46235	T	0.462631	0.79891	T	-0.132866	0.31032	T	0.0363632	0.72691	D	0.110015458589302	0.13425	T	0.89791	0.64303	D	0.17532623	0.38385	0.22631173	0.47604	0.17532623	0.38385	0.22631173	0.47603	-6.064	0.46811	T	.	.	0.213	0.48561	B	.;.	.;.	4.900203	0.80536	27.3	0.99920715059740128	0.98721	0.93941	0.59637	D	AEFDBHCI	0.952143	0.96734	D	0.635846223663438	0.75456	6.30902	0.582837931148016	0.73710	6.01519	0.999999999931728	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.9	3.9	0.44240	7.299000	0.78160	9.651000	0.81171	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.402	0.83480	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1184.33	33	chr5	76954073	.	G	A	1184.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=760;ExcessHet=0;FS=4.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=-0.064;SOR=1.126	GT:AD:DP:GQ:PL	0/1:82,49:131:99:1198,0,1932	18	0	1	0
chr5	79730176	79730176	G	A	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.G1411A:p.A471T	.	427	1093	2	0	0	2	0.000914077	.	.	.	710028	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.014	.	0.0033	0.00339457	0.0011	0.0125	0.0003	0.0001	0	1.5e-05	0	0.0002	0.0010349	160	154602	rs114134827	0.0003	0.0003	0.0003	0.0003	0.0107	0.0003	0.0003	0.0098	0.0094	0.0107	0.0004	0	5.038e-05	0	0.0010	1.529e-05	0.0008	0.0002	0.0036	0.0036	0.0037	0.0035	0.0125	0.0033	0.0032	0.0116	0.0113	0.0125	0	0.0013	0	0	0	0	4.413e-05	0.0009	0	0.21	0.19639	T	0.304	0.20100	T	0.015	0.17086	B	0.003	0.08700	B	0.656691	0.10464	N	0.816531	1	0.08975	N	1.1	0.28011	L	1.2	0.37405	T	-0.34	0.12661	N	0.029	0.00666	-1.0429	0.16443	T	0.024	0.10058	T	10	0.0029824376	0.00048	T	.	.	.	0.014	0.01968	.	.	0.0666544352282	0.05500	0.08802788127704751	0.08735	0.0549236003361	0.06084	0.207399711013	0.00706	T	0.021115	0.16503	T	-0.677566	0.00050	T	-0.735022	0.04103	T	0.00118470931803227	0.00012	T	0.650635	0.26150	T	0.0397147	0.05534	0.051417917	0.08271	0.0397147	0.05533	0.051417917	0.08271	-3.367	0.14615	T	.	.	0.082	0.08512	B	.	.	1.607207	0.20540	14.80	0.94642733894554965	0.25241	0.06312	0.12308	N	AEFBI	0.057716	0.10774	N	-1.05028844382612	0.07582	0.352692	-1.0135903298489	0.09486	0.4722089	0.998457337744424	0.36996	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.49	2.49	0.29274	0.316000	0.19217	1.439000	0.26511	-0.106000	0.15538	0.000000	0.06391	0.004000	0.18990	0.073000	0.16832	0.3283:0.2464:0.4254:0.0	4.082	0.09407	422	0.81333	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1188.33	92	chr5	79730176	.	G	A	1188.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.266;DP=1363;ExcessHet=0;FS=1.511;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-0.6;SOR=0.558	GT:AD:DP:GQ:PL	0/1:69,46:115:99:1202,0,2005	18	0	1	0
chr5	80744572	80744572	C	T	exonic	MSH3	.	nonsynonymous SNV	MSH3:NM_002439:exon12:c.C1720T:p.R574W	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	634244	not_provided|Endometrial_carcinoma|Familial_adenomatous_polyposis_4|Hereditary_cancer-predisposing_syndrome	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|MONDO:MONDO:0044300,MedGen:C4310719,OMIM:617100,Orphanet:480536|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.885	0.324493768091	.	.	6.101e-05	0	0	0.0007	0	1.583e-05	0	0	4.53e-05	7	154602	rs771054581	1.847e-05	1.847e-05	1.498e-05	2.201e-05	0.0002	1.265e-05	1.084e-05	8.204e-05	5.788e-05	0	2.236e-05	0	0.0002	1.874e-05	0	1.349e-05	3.312e-05	1.16e-05	3.95e-05	3.943e-05	3.86e-05	4.044e-05	0.0001	1.718e-05	1.131e-05	4.749e-05	3.06e-05	0.0001	0	0	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.983026	0.39963	D	3.77	0.95173	H	-4.09	0.96627	D	-7.86	0.96085	D	0.953	0.96187	1.093	0.99374	D	0.951	0.98392	D	9	0.98348045	0.98486	D	0.324494	0.91572	D	0.885	0.96651	.	.	0.97876564875	0.97853	0.7802403447628053	0.77975	0.217162788132	0.24230	0.563206195831	0.47720	T	0.911097	0.98326	D	0.313508	0.84004	D	0.521424	0.95072	D	0.990942060947418	0.81186	D	0.987701	0.95793	D	0.92748785	0.93986	0.7463329	0.85006	0.92748785	0.93986	0.7463329	0.85007	-14.219	0.93746	D	.	.	0.548	0.66691	A	.	.	4.713166	0.75742	26.4	0.99914287706023341	0.98309	0.84724	0.43811	D	AEFDBI	0.343709	0.43943	N	0.618451143256694	0.74341	6.116419	0.521856118143974	0.69463	5.364003	0.521378417548095	0.21099	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.86	4.01	0.45821	1.169000	0.31480	2.847000	0.35116	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.4228:0.5771:0.0:0.0	13.507	0.60947	746	0.52331	DNA mismatch repair protein MutS, core|DNA mismatch repair protein MutS, core	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2411.33	33	chr5	80744572	.	C	T	2411.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.526;DP=865;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.641;SOR=0.719	GT:AD:DP:GQ:PL	0/1:118,102:220:99:2425,0,2732	18	0	1	0
chr5	90622643	90622643	T	C	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon5:c.T500C:p.M167T	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1517	5	0	0	5	0.00164528	.	.	.	1155226	ADGRV1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.109	0.0123590473518	8.3e-05	0.000399361	0.0011	0	0.0004	0	0	0.0002	0	0.0050	0.0004204	65	154602	rs201758835	0.0002	0.0003	0.0001	0.0003	0.0037	0.0002	0.0002	0.0033	0.0032	0	0	0	0	1.996e-05	0.0005	3.077e-05	0.0001	0.0037	0.0001	0.0001	5.14e-05	0.0002	0.0029	7.086e-05	5.743e-05	0.0018	0.0014	0	0	0	0	0	0	0	4.41e-05	0	0.0029	0.005	0.63226	D	0.12	0.69154	T	0.001	0.07471	B	0.012	0.16012	B	0.000001	0.62929	D	0.056320	0.874035	0.35619	D	.	.	.	0.92	0.44461	T	-0.62	0.18248	N	0.309	0.34874	-1.0849	0.06426	T	0.068	0.27913	T	10	0.009497881	0.00214	T	0.012359	0.30863	T	0.109	0.30843	.	.	0.535584383668	0.53208	0.5680420340445862	0.56732	0.0526653030617	0.05800	0.38083165884	0.22374	T	0.079986	0.36257	T	-0.487832	0.00668	T	-0.474669	0.25014	T	0.161857144073736	0.18008	T	0.19678	0.06490	T	0.29759622	0.52688	0.21308935	0.45805	0.29970396	0.52878	0.2199799	0.46756	-4.049	0.24534	T	.	.	0.272	0.50609	B	.;.;.	.;.;.	2.399188	0.30823	18.55	0.96638913245512037	0.30545	0.99065	0.90713	D	AEFBI	0.893014	0.83052	D	-0.147813536092463	0.35328	2.027793	0.0557143584712965	0.42349	2.559906	0.99999995856737	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.85	5.85	0.93663	7.604000	0.82059	4.931000	0.46129	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.204000	0.22012	0.0:0.0:0.0:1.0	16.234	0.82186	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	691.33	46	chr5	90622643	.	T	C	691.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.269;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=0.293;SOR=0.68	GT:AD:DP:GQ:PL	0/1:50,36:86:99:705,0,1247	18	0	1	0
chr5	95620930	95620930	G	A	exonic	GPR150	.	nonsynonymous SNV	GPR150:NM_199243:exon1:c.G655A:p.G219R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.945497234444	0.0008	0.000998403	0.0005	0.0082	0	0	0	0	0.0037	0	0.0002846	44	154602	rs201254414	0.0002	0.0002	0.0002	0.0001	0.0068	0.0001	0.0001	0.0060	0.0057	0.0068	0.0003	0	3.271e-05	0	0	2.806e-06	0.0002	0	0.0018	0.0018	0.0017	0.0019	0.0064	0.0017	0.0016	0.0058	0.0056	0.0064	0	0.0003	0	0	0	0	4.424e-05	0.0010	0	0.365	0.11732	T	0.125	0.35330	T	0.969	0.56768	D	0.787	0.57594	P	0.898049	0.08640	N	0.937130	1	0.08975	N	2.125	0.59049	M	-0.61	0.71779	T	-1.32	0.32991	N	0.086	0.06322	-0.6803	0.61359	T	0.330	0.69741	T	10	0.015836746	0.00333	T	0.945497	0.99620	D	0.217	0.51112	0.599	0.72984	0.648399854274	0.64548	0.26509246850282114	0.26422	.	.	0.79666274786	0.81455	T	0.008771	0.08027	T	-0.432542	0.01431	T	-0.391342	0.34395	T	0.0637231175858885	0.07741	T	0.555444	0.19245	T	0.294558	0.52413	0.23730558	0.49024	0.294558	0.52413	0.23730558	0.49023	-3.462	0.15904	T	.	.	0.291	0.52293	B	.	.	2.027267	0.25767	16.88	0.96922571562699245	0.31625	0.00687	0.02939	N	AEFDGBCIJ	0.030411	0.03058	N	-0.61302432490539	0.18552	0.9640867	-0.848938233342121	0.13313	0.6899479	0.999999999965442	0.74766	0.437478	0.07067	0	0.405561	0.06353	1	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.88	-1.56	0.08080	-0.822000	0.04555	0.707000	0.20898	-0.228000	0.07776	0.000000	0.06391	0.905000	0.28034	0.038000	0.14061	0.6883:0.0:0.3117:0.0	8.338	0.31389	608	0.67185	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	0.001576	0.005747	0.001359	0.003472	0.000000	0.000000	0.000000	0.000000	0.02632	774.33	37	chr5	95620930	.	G	A	774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.882;DP=727;ExcessHet=0;FS=1.179;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=-0.501;SOR=0.482	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,30:48:99:1|0:95620915_G_C:788,0,617:95620915	18	0	1	0
chr5	110746300	110746300	C	A	exonic	SLC25A46	.	nonsynonymous SNV	SLC25A46:NM_001303249:exon4:c.C416A:p.T139N,SLC25A46:NM_001303250:exon4:c.C143A:p.T48N,SLC25A46:NM_138773:exon4:c.C416A:p.T139N	Neuropathy, hereditary motor and sensory, type VIB, Autosomal recessive	509	1001	10	2	0	14	0.00694444	.	.	.	453904	Inborn_genetic_diseases|not_provided|SLC25A46-related_disorder|Neuropathy,_hereditary_motor_and_sensory,_type_6B	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.|MONDO:MONDO:0014671,MedGen:C4225302,OMIM:616505	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.365	0.0679875233712	0.0002	.	0.0010	9.737e-05	8.645e-05	0.0001	0	0.0006	0	0.0044	0.0008603	133	154602	rs202123515	0.0009	0.0009	0.0008	0.0011	0.0051	0.0009	0.0009	0.0042	0.0040	9.694e-05	0.0002	0	5.264e-05	3.758e-05	0.0051	0.0008	0.0013	0.0045	0.0005	0.0005	0.0005	0.0005	0.0029	0.0004	0.0004	0.0018	0.0014	7.22e-05	0	0.0003	0	0	0	0	0.0007	0.0005	0.0029	0.324	0.18000	T	0.335	0.22761	T	0.933	0.52105	P	0.307	0.41295	B	0.000002	0.62929	D	0.099352	0.999584	0.81001	D	2.425	0.70256	M	-1.18	0.78314	T	-1.42	0.36385	N	0.649	0.66016	-0.4248	0.71235	T	0.363	0.72445	T	10	0.026061535	0.00782	T	0.067988	0.70325	D	0.365	0.68495	.	.	0.717195132449	0.71470	0.6756709447670524	0.67505	0.18412230689	0.20704	0.753449440002	0.74956	T	0.041052	0.25731	T	-0.270872	0.11659	T	-0.162386	0.58135	T	0.0544598861202496	0.06267	T	0.876612	0.63821	D	0.20870507	0.43115	0.15778503	0.36877	0.17306611	0.38033	0.157684	0.36858	-5.994	0.53983	T	0.4101591673195406	0.50059	0.292	0.63143	B	.;.	.;.	3.832299	0.55402	23.6	0.98154900006729051	0.38722	0.98291	0.81318	D	AEFGBI	0.840990	0.75823	D	0.329452793941148	0.57664	3.934803	0.394569681238408	0.61228	4.320164	0.999988228630886	0.51787	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.7	4.83	0.61880	7.138000	0.76898	7.688000	0.65646	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9276:0.0:0.0724	14.252	0.65573	893	0.26510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.025862	0.000000	0.007576	0.02632	1537.33	33	chr5	110746300	.	C	A	1537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.103;DP=805;ExcessHet=0;FS=0.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=0.98;SOR=0.781	GT:AD:DP:GQ:PL	0/1:113,68:181:99:1551,0,3018	18	0	1	0
chr5	111092599	111092599	A	G	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon1:c.A143G:p.K48R	Glaucoma 1, open angle, G	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00380432740645	.	.	2.628e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs750936332	8.212e-06	8.209e-06	5.447e-06	1.101e-05	0.0001	4.38e-06	3.46e-06	5.398e-05	4.043e-05	0	0	0	0	0	0	1.799e-06	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.21947	T	0.008	0.14655	B	0.005	0.11217	B	0.004396	0.33795	N	0.320500	0.924404	0.36774	D	-0.33	0.03531	N	1.59	0.28836	T	-0.15	0.09297	N	0.148	0.25867	-1.0792	0.07504	T	0.040	0.17362	T	10	0.16992697	0.31628	T	0.003804	0.08868	T	0.072	0.21020	0.488	0.57257	0.321697908245	0.31786	0.2952328837540435	0.29436	0.0265662939867	0.02714	0.55449873209	0.46491	T	0.081709	0.36659	T	-0.387562	0.02789	T	-0.590882	0.13590	T	0.242239673491609	0.22522	T	0.810019	0.46084	T	0.26774132	0.49846	0.26629838	0.52473	0.26774132	0.49846	0.26629838	0.52472	-3.805	0.20879	T	0.12299648546655595	0.11859	0.070	0.03407	B	.;.;.	.;.;.	2.759766	0.36197	20.2	0.95961189524395074	0.28300	0.82929	0.42093	D	ALL	0.152326	0.27698	N	-0.295999304669272	0.29302	1.623779	-0.103169677990601	0.35262	2.037999	0.999999999999905	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.98	3.56	0.39892	2.758000	0.47245	5.844000	0.50275	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.7099:0.1427:0.1474:0.0	5.875	0.18070	843	0.36859	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	929.33	33	chr5	111092599	.	A	G	929.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.673;DP=731;ExcessHet=0;FS=2.768;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=-0.917;SOR=0.446	GT:AD:DP:GQ:PL	0/1:67,38:105:99:943,0,1952	18	0	1	0
chr5	113567666	113567666	A	G	exonic	YTHDC2	.	nonsynonymous SNV	YTHDC2:NM_001345976:exon21:c.A2161G:p.N721D,YTHDC2:NM_001345975:exon22:c.A2575G:p.N859D,YTHDC2:NM_022828:exon23:c.A3061G:p.N1021D	.	440	1076	6	0	0	6	0.00278035	.	.	.	3215976	YTHDC2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.065	0.00465682954189	0.0002	0.000399361	0.0006	0	0.0002	0	0	0.0003	0	0.0030	0.0004592	71	154602	rs376412303	0.0002	0.0003	0.0002	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	4.949e-05	0	2.557e-05	0	0.0010	0.0001	0.0003	0.0027	0.0002	0.0002	7.714e-05	0.0003	0.0033	0.0001	0.0001	0.0021	0.0017	2.407e-05	0	0	0	0	0	0	0.0001	0.0005	0.0033	0.323	0.13436	T	0.704	0.05642	T	0.012	0.16265	B	0.089	0.29769	B	0.007909	0.31126	N	0.349959	0.998541	0.45064	D	1.5	0.37844	L	4.22	0.02640	T	-0.98	0.25986	N	0.525	0.55453	-0.9267	0.44616	T	0.013	0.05033	T	10	0.01039058	0.00231	T	0.004657	0.11566	T	0.065	0.18881	.	.	0.082315109003	0.07666	0.334134623925305	0.33326	0.207573174993	0.23217	0.548744082451	0.45681	T	0.009249	0.08431	T	-0.557106	0.00264	T	-0.577636	0.14756	T	0.03045305441033	0.02060	T	0.877812	0.59215	D	0.15735008	0.35460	0.14383073	0.34169	0.15735008	0.35459	0.14383073	0.34168	-2.34	0.04779	T	.	.	0.191	0.40921	B	.	.	3.413038	0.47354	22.4	0.99104580660717545	0.52546	0.98925	0.88709	D	AEFBI	0.548203	0.56158	D	0.0133729334074716	0.42462	2.558945	0.190865042997714	0.49344	3.138825	0.999904808057492	0.45458	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	5.915000	0.69704	11.187000	0.88524	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.534	0.75727	894	0.26265	Domain of unknown function DUF1605	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	694.33	33	chr5	113567666	.	A	G	694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.303;DP=670;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.81;SOR=0.859	GT:AD:DP:GQ:PL	0/1:23,30:53:99:708,0,676	18	0	1	0
chr5	128990397	128990397	A	G	exonic	SLC27A6	.	nonsynonymous SNV	SLC27A6:NM_001017372:exon4:c.A902G:p.K301R,SLC27A6:NM_001317984:exon5:c.A902G:p.K301R,SLC27A6:NM_014031:exon5:c.A902G:p.K301R	.	435	1083	2	2	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	.	0.0111	0.0115815	0.0030	0.0316	0.0017	0	0	7.499e-05	0.0044	0	0.0030207	467	154602	rs61744871	0.0010	0.0010	0.0011	0.0009	0.0306	0.0009	0.0009	0.0290	0.0284	0.0306	0.0020	0.0007	0	0	0.0009	0.0001	0.0023	6.957e-05	0.0092	0.0092	0.0096	0.0089	0.0313	0.0088	0.0087	0.0299	0.0293	0.0313	0.0132	0.0037	0	0	0	0.0102	0.0002	0.0080	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.001897	0.37740	N	0.315706	0.845661	0.28569	N	-0.815	0.01551	N	0.98	0.42122	T	1.44	0.00794	N	0.214	0.23884	-1.0056	0.28277	T	0.007	0.02399	T	9	0.004643023	0.00097	T	.	.	.	0.092	0.26621	.	.	0.415690173769	0.41181	0.35797371676887574	0.35711	0.0449599093349	0.04864	0.275014191866	0.06806	T	0.00462	0.17437	T	-0.698453	0.00037	T	-0.751681	0.03421	T	0.00190122493026739	0.00019	T	0.880212	0.59782	D	0.05103713	0.09314	0.049675044	0.07639	0.05103713	0.09314	0.049675044	0.07638	-0.689	0.00713	T	.	.	0.063	0.01387	B	.;.;.;.	.;.;.;.	0.243403	0.06232	2.686	0.20795617225985236	0.00764	0.48261	0.28167	N	AEFI	0.055317	0.10132	N	-0.91088574604878	0.10586	0.5065998	-0.77241015204976	0.15173	0.7966433	3.86584058060519E-6	0.01202	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.59	-2.78	0.05512	0.533000	0.22791	-0.028000	0.12833	0.756000	0.94297	0.976000	0.34826	0.000000	0.08366	0.791000	0.37352	0.5505:0.0:0.4495:0.0	12.366	0.54554	562	0.71143	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.015152	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1710.33	33	chr5	128990397	.	A	G	1710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.537;DP=802;ExcessHet=0;FS=5.484;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-1.307;SOR=1.06	GT:AD:DP:GQ:PL	0/1:103,72:175:99:1724,0,2789	18	0	1	0
chr5	131430915	131430915	T	A	exonic	RAPGEF6	.	nonsynonymous SNV	RAPGEF6:NM_016340:exon26:c.A4409T:p.D1470V,RAPGEF6:NM_001164386:exon27:c.A4433T:p.D1478V,RAPGEF6:NM_001164388:exon27:c.A4433T:p.D1478V,RAPGEF6:NM_001164387:exon28:c.A4448T:p.D1483V	.	433	1086	3	0	0	3	0.00137931	.	.	.	3905450	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00744047134161	0.0004	.	9.175e-05	0.0003	0	0	0	0	0.0011	0.0005	7.12e-05	11	154602	rs150826816	2.19e-05	2.189e-05	1.09e-05	3.302e-05	0.0003	1.585e-05	1.357e-05	0.0002	0.0002	0	0	0	0	0	0.0003	0	4.973e-05	0.0003	0.0001	0.0001	0.0001	0.0001	0.0004	7.092e-05	5.748e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	0	0	0.0002	0.038	0.44358	D	0.271	0.32783	T	0.009	0.15093	B	0.017	0.24676	B	0.018202	0.27535	N	0.420432	0.726975	0.43752	D	0.69	0.16971	N	1.89	0.23688	T	-0.8	0.22078	N	0.227	0.36569	-1.0772	0.07901	T	0.052	0.21999	T	10	0.047703266	0.04123	T	0.00744	0.19739	T	0.027	0.05988	.	.	0.189391138174	0.18552	0.3406859732346725	0.33981	0.249926352338	0.27571	0.339904546738	0.16424	T	0.144203	0.48070	T	-0.368051	0.03694	T	-0.455938	0.27042	T	0.055423292447777	0.06428	T	0.89861	0.65631	D	0.13407764	0.31165	0.074578516	0.16329	0.13407764	0.31164	0.074578516	0.16329	-3.227	0.14074	T	.	.	0.072	0.11606	B	.;.;.;.;.	.;.;.;.;.	3.667312	0.52131	23.2	0.95979092879621164	0.28351	0.91512	0.53686	D	AEFDGBIJ	0.254658	0.37393	N	-0.133328776451992	0.35945	2.071312	0.00511071881310982	0.39952	2.376702	0.999953961747294	0.48110	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.0	3.79	0.42757	3.797000	0.55219	2.027000	0.30236	0.665000	0.62972	0.993000	0.37899	0.854000	0.27420	0.954000	0.50415	0.0:0.0:0.2514:0.7486	11.107	0.47429	392	0.83172	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1119.33	33	chr5	131430915	.	T	A	1119.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=0.626;SOR=0.784	GT:AD:DP:GQ:PL	0/1:38,37:75:99:1133,0,1116	18	0	1	0
chr5	132825930	132825930	C	G	exonic	SHROOM1	.	nonsynonymous SNV	SHROOM1:NM_133456:exon1:c.G211C:p.G71R,SHROOM1:NM_001172700:exon4:c.G211C:p.G71R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0046	0.00599042	0.0117	0.0619	0	0	0	0.0052	0	0	0.0011255	174	154602	rs201865788	0.0010	0.0012	0.0011	0.0010	0.0190	0.0010	0.0010	0.0176	0.0170	0.0190	0.0047	0.0124	0	0	0.0044	0.0003	0.0035	3.621e-05	0.0074	0.0074	0.0079	0.0069	0.0227	0.0071	0.0069	0.0215	0.0210	0.0227	0	0.0067	0.0104	0	0	0	0.0005	0.0100	0	0.003	0.68238	D	0.061	0.45530	T	0.838	0.49514	P	0.218	0.44145	B	0.973959	0.07797	N	1.015780	1	0.08975	N	1.04	0.26193	L	1.88	0.46028	T	-0.48	0.26422	N	0.133	0.13769	-1.0547	0.13119	T	0.045	0.19397	T	10	0.0053234994	0.00117	T	.	.	.	0.023	0.04649	.	.	0.601279251107	0.59809	0.2935695493563928	0.29269	1.75705472658	0.91076	0.731484830379	0.71723	T	0.009902	0.08979	T	-0.655494	0.00067	T	-0.697429	0.05967	T	0.00443382658404561	0.00047	T	0.712529	0.34485	T	0.100226425	0.23664	0.055669375	0.09807	0.100226425	0.23664	0.055669375	0.09807	-4.405	0.29625	T	.	.	0.147	0.42549	B	.;.;.;.;.	.;.;.;.;.	1.385141	0.17971	13.47	0.96089012131179241	0.28676	0.03681	0.08950	N	AEFDBCIJ	0.054012	0.09782	N	-0.736899366499802	0.14991	0.751616	-0.887839356590446	0.12381	0.6365739	0.999940939710863	0.47345	0.685219	0.55550	0	0.552344	0.17405	0	0.674405	0.61402	0	0.604944	0.38103	0	.	.	3.95	-0.277	0.12260	-0.229000	0.09106	0.771000	0.21396	0.504000	0.22967	0.000000	0.06391	0.000000	0.08366	0.297000	0.24428	0.2105:0.4294:0.0:0.3601	2.843	0.05194	909	0.22467	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005723	0.027778	0.009722	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1371.33	37	chr5	132825930	.	C	G	1371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.043;DP=780;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.172;SOR=0.662	GT:AD:DP:GQ:PL	0/1:54,66:120:99:1385,0,1295	18	0	1	0
chr5	132861704	132861704	G	A	exonic	GDF9	.	nonsynonymous SNV	GDF9:NM_005260:exon2:c.C1250T:p.P417L,GDF9:NM_001288824:exon3:c.C986T:p.P329L,GDF9:NM_001288825:exon4:c.C986T:p.P329L,GDF9:NM_001288826:exon4:c.C986T:p.P329L,GDF9:NM_001288827:exon4:c.C986T:p.P329L,GDF9:NM_001288828:exon4:c.C986T:p.P329L	.	.	.	.	.	.	.	.	.	.	.	3215372	GDF9-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.592	0.133492086806	0.0021	0.00219649	0.0007	0.0069	0.0004	0	0	5.993e-05	0	0	0.0006015	93	154602	rs140742945	0.0003	0.0003	0.0003	0.0002	0.0085	0.0002	0.0002	0.0077	0.0074	0.0085	0.0002	0	0	0	0.0012	4.862e-05	0.0004	0.0001	0.0019	0.0019	0.0021	0.0016	0.0065	0.0017	0.0016	0.0059	0.0057	0.0065	0	0.0005	0	0	0	0	4.41e-05	0.0014	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.049257	1	0.81001	D	2.535	0.73915	M	-2.21	0.86963	D	-8.64	0.97530	D	0.806	0.80180	0.550	0.91239	D	0.758	0.91756	D	10	0.021094859	0.00498	T	0.133492	0.81587	D	0.592	0.83747	.	.	0.996849210349	0.99681	0.899084303325983	0.89880	0.276455520114	0.30112	0.617004096508	0.55305	T	0.922048	0.98612	D	-0.0823617	0.39331	T	0.112782	0.77758	D	0.13260879299579	0.15621	T	0.927907	0.73422	D	0.745841	0.80627	0.7351307	0.84345	0.73465276	0.79989	0.6775539	0.81062	-12.408	0.86782	D	.	.	0.575	0.67852	P	.;.;.;.;.	.;.;.;.;.	4.585090	0.72471	25.8	0.99819879148165602	0.90326	0.99026	0.90144	D	AEFBI	0.930883	0.91888	D	0.680529245954429	0.78358	6.855205	0.557893046698221	0.71950	5.733284	1.0	0.98316	0.549168	0.22868	0	0.547309	0.14657	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.97	5.97	0.96935	9.522000	0.97082	11.755000	0.95496	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.604000	0.31488	0.0:0.0:1.0:0.0	20.096	0.97848	909	0.22467	Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2248.33	34	chr5	132861704	.	G	A	2248.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.17;DP=809;ExcessHet=0;FS=7.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.34;SOR=0.529	GT:AD:DP:GQ:PL	0/1:88,82:170:99:2262,0,2081	18	0	1	0
chr5	134559913	134559913	C	T	exonic	JADE2	.	nonsynonymous SNV	JADE2:NM_001289984:exon5:c.C395T:p.P132L,JADE2:NM_001289985:exon5:c.C443T:p.P148L,JADE2:NM_001308143:exon5:c.C395T:p.P132L,JADE2:NM_015288:exon5:c.C395T:p.P132L	.	412	1109	1	0	0	1	0.000450653	.	.	.	709628	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.028	.	0.0098	0.00858626	0.0026	0.0285	0.0012	0	0	0	0.0011	0.0001	0.0024385	377	154602	rs35545286	0.0007	0.0007	0.0009	0.0006	0.0281	0.0007	0.0007	0.0266	0.0260	0.0281	0.0008	0	0	0	0.0016	9.893e-06	0.0014	5.8e-05	0.0075	0.0075	0.0077	0.0073	0.0267	0.0072	0.0070	0.0254	0.0249	0.0267	0	0.0017	0	0	0	0	1.47e-05	0.0024	0.0004	0.278	0.19023	T	0.322	0.19304	T	0.001	0.17786	B	0.002	0.30857	B	0.208199	0.16431	N	0.614425	0.999525	0.47407	D	0.69	0.16971	N	1.02	0.40749	T	-0.86	0.27669	N	0.395	0.44857	-1.1011	0.03961	T	0.029	0.12278	T	10	0.003025204	0.00050	T	.	.	.	0.028	0.06331	.	.	0.143184338766	0.13958	0.4117899692501063	0.41094	0.852731849783	0.68618	0.466420382261	0.34190	T	0.017466	0.17198	T	-0.532443	0.00372	T	-0.516644	0.20636	T	0.00846570441895921	0.00103	T	0.837516	0.51030	T	0.04347316	0.06782	0.040990535	0.04556	0.04347316	0.06781	0.040990535	0.04556	-3.762	0.20238	T	.	.	0.071	0.04477	B	.;.;.;.;.;.	.;.;.;.;.;.	3.061605	0.41119	21.3	0.99754098599524588	0.84537	0.97299	0.73880	D	AEFBI	0.313612	0.41872	N	-0.0863258133977663	0.37992	2.218452	0.107132175130188	0.44911	2.763916	0.999984009268342	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.11	4.16	0.48138	2.756000	0.47228	.	.	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.994000	0.71098	0.3266:0.6734:0.0:0.0	10.822	0.45814	838	0.37812	.;Enhancer of polycomb-like, N-terminal;Enhancer of polycomb-like, N-terminal;Enhancer of polycomb-like, N-terminal;Enhancer of polycomb-like, N-terminal;Enhancer of polycomb-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001512	0.000000	0.001362	0.002924	0.000000	0.017241	0.000000	0.000000	0.02632	1539.33	35	chr5	134559913	.	C	T	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.11;DP=758;ExcessHet=0;FS=5.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-0.218;SOR=1.08	GT:AD:DP:GQ:PL	0/1:56,59:115:99:1553,0,1392	18	0	1	0
chr5	136049472	136049472	C	T	exonic	TGFBI	.	nonsynonymous SNV	TGFBI:NM_000358:exon7:c.C805T:p.L269F	Corneal dystrophy, Avellino type, Autosomal dominant;Corneal dystrophy, Groenouw type I, Autosomal dominant;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Thiel-Behnke type, Autosomal dominant;Corneal dystrophy, epithelial basement membrane, Autosomal dominant;Corneal dystrophy, lattice type I, Autosomal dominant;Corneal dystrophy, lattice type IIIA, Autosomal dominant	0	1488	30	4	0	38	0.0126078	.	.	.	749220	not_provided|TGFBI-related_disorder|Corneal_dystrophy	MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.332	.	0.0004	0.00239617	0.0018	0.0001	0.0005	0.0001	0	0.0006	0.0034	0.0100	0.0015782	244	154602	rs199852470	0.0010	0.0010	0.0007	0.0013	0.0098	0.0009	0.0009	0.0092	0.0090	8.961e-05	0.0006	0	2.519e-05	1.873e-05	0.0066	0.0004	0.0009	0.0098	0.0008	0.0008	0.0005	0.0012	0.0083	0.0007	0.0007	0.0063	0.0055	0.0002	0	0.0016	0.0003	0	0	0.0034	0.0007	0.0019	0.0083	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.565	0.93411	H	-3.67	0.95247	D	-3.34	0.66325	D	0.825	0.82057	1.000	0.97194	D	0.911	0.97039	D	10	0.011640012	0.00253	T	.	.	.	0.697	0.89053	.	.	0.988119808927	0.98799	0.9319671925485042	0.93175	0.315069041011	0.33789	0.5334623456	0.43522	T	0.849906	0.96575	D	0.0999566	0.64288	D	0.378766	0.91387	D	0.158747277795885	0.17779	T	0.913409	0.69158	D	0.6569642	0.75736	0.3904356	0.63839	0.71059954	0.78641	0.47896433	0.69820	-9.904	0.73334	D	0.5717359116076002	0.63888	0.449	0.67441	A	.;.	.;.	3.028649	0.40563	21.2	0.99836872543440758	0.91800	0.77442	0.38077	D	AEFBHCI	0.472013	0.51731	N	0.460775494352056	0.64816	4.74497	0.324843893063923	0.57004	3.864764	0.999999833384155	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.94	5.08	0.68373	1.008000	0.29475	2.757000	0.34577	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.786:0.0:0.214	9.221	0.36537	775	0.48401	FAS1 domain|FAS1 domain;FAS1 domain|FAS1 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	0.004532	0.000000	0.004076	0.002924	0.000000	0.008621	0.003049	0.007576	0.02632	1263.33	33	chr5	136049472	.	C	T	1263.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.07;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.731;SOR=0.755	GT:AD:DP:GQ:PL	0/1:56,50:106:99:1277,0,1424	18	0	1	0
chr5	139042705	139042705	G	A	exonic	SIL1	.	nonsynonymous SNV	SIL1:NM_022464:exon5:c.C368T:p.T123I,SIL1:NM_001037633:exon6:c.C368T:p.T123I	Marinesco-Sjogren syndrome, Autosomal recessive	0	1497	24	1	0	26	0.00860927	.	.	.	101980	Marinesco-Sjögren_syndrome|SIL1-related_disorder|not_specified|not_provided	MONDO:MONDO:0009567,MedGen:C0024814,OMIM:248800,Orphanet:559|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.251	0.022469175072	0.0063	0.00199681	0.0058	0.0021	0.0010	0	0.0017	0.0086	0.0033	0.0047	0.0058149	899	154602	rs115800498	0.0073	0.0073	0.0074	0.0072	0.0086	0.0072	0.0071	0.0084	0.0084	0.0011	0.0018	0.0013	2.519e-05	0.0019	0.0052	0.0086	0.0065	0.0053	0.0047	0.0047	0.0049	0.0046	0.0084	0.0044	0.0043	0.0078	0.0076	0.0013	0	0.0029	0.0003	0.0002	0.0006	0.0034	0.0084	0.0066	0.0050	0.032	0.72154	D	0.016	0.60972	D	0.216	0.30161	B	0.081	0.31843	B	0.099780	0.19918	N	0.530450	0.999894	0.19781	N	1.59	0.40313	L	-0.61	0.71779	T	-2.12	0.51319	N	0.282	0.32370	-0.8504	0.51940	T	0.209	0.56893	T	10	0.006200969	0.00174	T	0.022469	0.45362	T	0.251	0.56024	.	.	0.466059976078	0.46230	0.2802614282165687	0.27939	0.372858591364	0.38771	0.486942917109	0.37016	T	0.243797	0.61279	T	-0.30756	0.07964	T	-0.20517	0.54157	T	0.0149357539256162	0.00318	T	0.810819	0.46223	T	0.07017364	0.15436	0.11561561	0.27910	0.064821616	0.13792	0.11561561	0.27909	-5.027	0.37132	T	0.1939016132239977	0.25530	0.167	0.49255	B	.;.;.;.;.	.;.;.;.;.	2.571939	0.33327	19.31	0.99189030372839704	0.54906	0.78831	0.38954	D	AEFDBI	0.237679	0.35993	N	-0.166597482616396	0.34531	1.972092	-0.0870876997230101	0.35923	2.084157	0.00847338030882632	0.11683	0.706298	0.61202	0	0.724815	0.89359	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	4.97	3.16	0.35406	1.608000	0.36458	5.819000	0.50068	0.676000	0.76740	0.977000	0.34929	1.000000	0.68203	0.986000	0.61781	0.0:0.3675:0.6325:0.0	11.833	0.51579	602	0.67834	.;.;.;.;.	.	.	.	.	.	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	0.004532	0.000000	0.002717	0.002924	0.000000	0.008621	0.006098	0.015152	0.02632	1695.33	35	chr5	139042705	.	G	A	1695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.249;DP=793;ExcessHet=0;FS=0.615;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=1.6;SOR=0.775	GT:AD:DP:GQ:PL	0/1:80,71:151:99:1709,0,2123	18	0	1	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N,NRG2:NM_004883:exon2:c.G731A:p.S244N,NRG2:NM_013981:exon2:c.G731A:p.S244N,NRG2:NM_013982:exon2:c.G731A:p.S244N,NRG2:NM_013983:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2059	985.91	191	chr5	139887481	.	C	T	985.91	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-4.303;DP=2082;ExcessHet=2.9153;FS=241.35;InbreedingCoeff=-0.3001;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=0.942;SOR=11.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,29:110:99:0|1:139887481_C_T:228,0,2713:139887481	10	0	7	2
chr5	141173766	141173766	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931C:p.A311P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0073481168098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	1.163e-05	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.088	0.40586	T	0.758	0.43456	P	0.516	0.48072	P	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.57	0.01917	T	-1.9	0.44284	N	0.19	0.20793	-0.9688	0.37448	T	0.012	0.04463	T	9	0.14442283	0.27407	T	0.007348	0.19496	T	0.054	0.15330	0.24	0.17218	0.297718772494	0.29385	0.23022774839758178	0.22937	0.259062600134	0.28458	0.285979688168	0.08340	T	0.007225	0.06645	T	-0.192082	0.21952	T	-0.513689	0.20937	T	0.239479869604111	0.22395	T	0.0113989	0.00062	T	0.14268309	0.32824	0.21860704	0.46570	0.14268309	0.32824	0.21860704	0.46569	-8.191	0.62365	D	.	.	0.557	0.67107	A	.	.	1.047924	0.14288	10.87	0.99254472283569606	0.56989	0.18010	0.20081	N	AEFDBI	0.376982	0.46093	N	-0.355294400045894	0.27079	1.482807	-0.435194067126652	0.23971	1.310156	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1117.17	226	chr5	141173766	.	G	C	1117.17	.	AC=6;AF=0.25;AN=24;BaseQRankSum=-5.191;DP=3406;ExcessHet=4.0268;FS=229.301;InbreedingCoeff=-0.4104;MLEAC=7;MLEAF=0.292;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=0.731;SOR=12.262	GT:AD:DP:GQ:PL	0/1:146,44:190:93:93,0,3058	6	0	6	7
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4706	14014.1	269	chr5	141303079	.	C	G	14014.1	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-5.32;DP=3969;ExcessHet=25.4433;FS=253.579;InbreedingCoeff=-0.8095;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.54;SOR=13.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:141,59:217:99:.:.:1603,0,4425:.	1	0	16	2
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	19266.3	284	chr5	141303081	.	A	G	19266.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.62;DP=4066;ExcessHet=38.2876;FS=254.572;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=1.37;SOR=14.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:141,82:223:99:.:.:1792,0,4380:.	1	0	18	0
chr5	141319675	141319675	T	C	exonic	TAF7	.	nonsynonymous SNV	TAF7:NM_005642:exon1:c.A370G:p.K124E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.00773815326677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.128	0.34959	T	0.801	0.45051	P	0.192	0.36449	B	0.000000	0.84330	D	0.048158	0.99996	0.52935	D	1.415	0.35607	L	1.95	0.22474	T	-2.41	0.52938	N	0.456	0.49328	-1.1093	0.03130	T	0.036	0.15509	T	10	0.24390915	0.41613	T	0.007738	0.20536	T	0.242	0.54781	0.45	0.51121	0.202312658747	0.19855	0.41055294476633625	0.40971	1.00253147904	0.74463	0.614577114582	0.54962	T	0.091901	0.38892	T	-0.0265272	0.47920	T	-0.275881	0.47224	T	0.982288479804993	0.74401	D	0.906209	0.66975	D	0.47429624	0.65553	0.47791952	0.69755	0.47429624	0.65554	0.47791952	0.69755	-7.781	0.59567	D	.	.	0.689	0.72524	P	.	.	4.349949	0.66808	25.0	0.99773219977618521	0.86088	0.84271	0.43353	D	AEFBC	0.838737	0.75622	D	0.322051898759201	0.57281	3.894978	0.428214015228985	0.63329	4.564529	0.999999999966186	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.08	5.08	0.68373	7.178000	0.77202	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.147	0.58889	467	0.78285	TAFII55 protein, conserved region|TAFII55 protein, conserved region|TAFII55 protein, conserved region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2051.33	36	chr5	141319675	.	T	C	2051.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.072;DP=768;ExcessHet=0;FS=3.203;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=0.261;SOR=0.958	GT:AD:DP:GQ:PL	0/1:55,76:131:99:2065,0,1390	18	0	1	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	2841.21	42	chr5	141400463	.	A	G	2841.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-7.16;DP=3945;ExcessHet=8.9063;FS=248.932;InbreedingCoeff=-0.4075;MLEAC=11;MLEAF=0.289;MQ=59.99;MQRankSum=0;QD=0.91;ReadPosRankSum=0.68;SOR=13.863	GT:AD:DP:GQ:PL	0/1:197,88:285:99:297,0,4222	8	0	11	0
chr5	146013954	146013954	C	T	exonic	SH3RF2	.	nonsynonymous SNV	SH3RF2:NM_152550:exon5:c.C952T:p.R318C	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	.	.	0.00199681	0.0004	0	0	0.0001	0	1.5e-05	0.0011	0.0027	0.0003752	58	154602	rs563187260	0.0002	0.0002	9.256e-05	0.0002	0.0023	0.0001	0.0001	0.0021	0.0020	2.987e-05	0	0	0	0	0	1.799e-05	0.0002	0.0023	0.0002	0.0002	6.426e-05	0.0003	0.0044	0.0001	0.0001	0.0029	0.0025	2.408e-05	0	0	0	0	0	0	5.881e-05	0	0.0044	0.0	0.91255	D	0.001	0.83351	D	0.998	0.73220	D	0.661	0.52837	P	0.000192	0.48115	D	0.149558	0.999757	0.48800	D	2.92	0.84325	M	3.02	0.08986	T	-6.88	0.93217	D	0.658	0.67391	-1.1168	0.02545	T	0.030	0.12892	T	10	0.011615366	0.00253	T	.	.	.	0.240	0.54500	0.408	0.44230	0.680157959374	0.67743	0.6706399589755375	0.67001	0.592427251198	0.54633	0.268016815186	0.05883	T	0.397617	0.75594	T	-0.336196	0.05656	T	-0.260936	0.48731	T	0.309636138054752	0.25399	T	0.872513	0.57956	D	0.53195524	0.68942	0.38716376	0.63591	0.53195524	0.68943	0.38716376	0.63591	-4.839	0.35042	T	.	.	0.085	0.10014	B	.;.	.;.	4.729138	0.76146	26.5	0.99926649442289583	0.99103	0.96029	0.67212	D	AEFBI	0.746679	0.68897	D	0.434694804471161	0.63341	4.565899	0.495105522651378	0.67663	5.114546	0.999626377670151	0.41093	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.47	5.47	0.80345	3.907000	0.56061	1.818000	0.29017	0.549000	0.26987	1.000000	0.71638	0.004000	0.18990	0.969000	0.54022	0.0:1.0:0.0:0.0	19.683	0.95965	806	0.43582	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2895.33	37	chr5	146013954	.	C	T	2895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=932;ExcessHet=0;FS=0.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.745;SOR=0.648	GT:AD:DP:GQ:PL	0/1:110,107:217:99:2909,0,2720	18	0	1	0
chr5	149884554	149884554	T	C	exonic	PDE6A	.	nonsynonymous SNV	PDE6A:NM_000440:exon16:c.A1952G:p.N651S	Retinitis pigmentosa 43	0	1499	21	2	0	25	0.00826993	.	.	.	302142	not_provided|Retinitis_pigmentosa	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.205	0.0153810589377	0.0002	0.000998403	0.0014	0.0002	0.0010	0	0.0002	0.0005	0.0033	0.0072	0.0011643	180	154602	rs149380104	0.0008	0.0008	0.0006	0.0010	0.0068	0.0007	0.0007	0.0064	0.0062	0.0001	0.0005	0.0002	0.0001	0	0.0031	0.0004	0.0011	0.0068	0.0006	0.0006	0.0005	0.0006	0.0066	0.0005	0.0004	0.0048	0.0042	9.644e-05	0	0.0006	0	0.0002	0	0.0068	0.0005	0.0019	0.0066	0.675	0.04495	T	0.737	0.05398	T	0.553	0.38185	P	0.34	0.42389	B	0.000002	0.62929	N	0.096275	0.996839	0.43448	D	0.205	0.09354	N	-0.87	0.74583	T	-1.64	0.39314	N	0.264	0.31590	-0.8115	0.54460	T	0.204	0.56183	T	10	0.011482209	0.00251	T	0.015381	0.36078	T	0.205	0.49236	.	.	0.706766155188	0.70421	0.08502549280128813	0.08436	0.0791372595417	0.08904	0.506625831127	0.39750	T	0.264909	0.66212	T	-0.547104	0.00304	T	-0.555068	0.16843	T	0.0326612262952046	0.02415	T	0.919908	0.71037	D	0.12048073	0.28348	0.12484691	0.30087	0.12048073	0.28348	0.12484691	0.30087	-5.833	0.44861	T	0.14397161505066092	0.16411	0.142	0.31125	B	.;.;.	.;.;.	2.419969	0.31114	18.64	0.97492051901368348	0.34245	0.90674	0.52048	D	AEFDI	0.623784	0.60760	D	-0.161241600219064	0.34758	1.987857	-0.011555677328265	0.39191	2.320061	0.999999819325166	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.72	4.56	0.55644	3.963000	0.56480	3.518000	0.38882	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0815:0.0:0.9185	9.748	0.39624	781	0.47532	3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.015267	0.02632	1413.33	33	chr5	149884554	.	T	C	1413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.253;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.004;SOR=0.718	GT:AD:DP:GQ:PL	0/1:43,56:99:99:1427,0,1160	18	0	1	0
chr5	154802090	154802090	-	GAGCAA	exonic	LARP1	.	nonframeshift insertion	LARP1:NM_001367715:exon10:c.984_985insGAGCAA:p.E331_E332insQE,LARP1:NM_001367713:exon11:c.1185_1186insGAGCAA:p.E398_E399insQE,LARP1:NM_001367716:exon11:c.1086_1087insGAGCAA:p.E365_E366insQE,LARP1:NM_001367717:exon11:c.1491_1492insGAGCAA:p.E500_E501insQE,LARP1:NM_001367718:exon11:c.1701_1702insGAGCAA:p.E570_E571insQE,LARP1:NM_001367719:exon11:c.1185_1186insGAGCAA:p.E398_E399insQE,LARP1:NM_015315:exon11:c.1569_1570insGAGCAA:p.E526_E527insQE,LARP1:NM_033551:exon11:c.1800_1801insGAGCAA:p.E603_E604insQE,LARP1:NM_001367714:exon12:c.1185_1186insGAGCAA:p.E398_E399insQE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	3.84e-05	1	26028	rs756349552	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2191.29	35	chr5	154802090	.	T	TGAGCAA	2191.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.118;DP=791;ExcessHet=0;FS=1.316;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=0.16;SOR=0.57	GT:AD:DP:GQ:PL	0/1:91,60:151:99:2205,0,3529	18	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2926.77	122	chr5	154834880	.	G	C	2926.77	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-3.509;DP=2450;ExcessHet=17.0548;FS=265.035;InbreedingCoeff=-0.631;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.04;SOR=12.969	GT:AD:DP:GQ:PL	0/1:98,35:149:99:135,0,2063	4	0	14	1
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	128065.0	769	chr5	157052557	.	C	*	128065.0	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0.778;DP=10426;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.0434;MLEAC=21;MLEAF=0.583;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.521;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,488:488:99:.:.:21867,1480,0:.	5	7	6	1
chr5	157472712	157472712	G	A	exonic	NIPAL4	.	nonsynonymous SNV	NIPAL4:NM_001172292:exon5:c.G1096A:p.V366M,NIPAL4:NM_001099287:exon6:c.G967A:p.V323M	Ichthyosis, congenital, autosomal recessive 6, Autosomal recessive	1	1517	3	1	0	5	0.00164528	.	.	.	2825491	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.284	.	.	0.00279553	0.0021	0	8.64e-05	0	0	1.499e-05	0.0011	0.0149	0.0017464	270	154602	rs563737484	0.0009	0.0009	0.0005	0.0013	0.0146	0.0009	0.0009	0.0140	0.0137	5.974e-05	6.708e-05	0	0	0	0.0002	1.619e-05	0.0008	0.0146	0.0005	0.0005	0.0001	0.0009	0.0152	0.0004	0.0004	0.0124	0.0113	0	0	6.533e-05	0	0	0	0	0	0	0.0152	0.106	0.29688	T	0.108	0.37730	T	0.802	0.45105	P	0.146	0.38116	B	0.000109	0.50451	D	0.176633	1	0.81001	D	1.66	0.42513	L	-2.63	0.90083	D	-0.2	0.14390	N	0.113	0.10056	-0.1470	0.78989	T	0.533	0.82694	D	10	0.0085196495	0.00193	T	.	.	.	0.284	0.60219	0.358	0.36060	0.586602809486	0.58333	0.42644471853699395	0.42561	0.49260143027	0.47901	0.410073101521	0.26467	T	0.317578	0.68902	T	-0.351646	0.04624	T	-0.265568	0.48267	T	0.0320280690241991	0.02311	T	0.265773	0.04827	T	0.060895517	0.12548	0.07691106	0.17082	0.044466104	0.07113	0.0839176	0.19266	-4.686	0.33920	T	.	.	0.097	0.15743	B	.;.	.;.	1.431308	0.18497	13.77	0.98471588671829158	0.41861	0.77910	0.38364	D	AEFBCI	0.157773	0.28334	N	-0.0623199381743931	0.39054	2.29698	-0.0505050291044003	0.37467	2.19422	0.999971412620888	0.50053	0.554377	0.28877	0	0.588066	0.40923	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.93	3.21	0.35933	3.586000	0.53696	1.476000	0.26787	-0.123000	0.13640	1.000000	0.71638	0.899000	0.27943	0.051000	0.15275	0.207:0.1301:0.6629:0.0	6.556	0.21654	828	0.39726	.;.	.	.	.	.	.	Likely benign	0	0	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	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2861.33	35	chr5	157472712	.	G	A	2861.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.232;DP=1243;ExcessHet=0;FS=2.36;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.682;SOR=0.861	GT:AD:DP:GQ:PL	0/1:105,105:210:99:2875,0,2929	18	0	1	0
chr5	160349583	160349583	G	A	exonic	C1QTNF2	.	nonsynonymous SNV	C1QTNF2:NM_031908:exon3:c.C443T:p.T148I	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	.	.	0.00239617	0.0012	0	8.639e-05	0	0	0	0	0.0090	0.0010867	168	154602	rs201362816	0.0005	0.0005	0.0003	0.0007	0.0085	0.0005	0.0005	0.0080	0.0078	5.974e-05	0	0	2.519e-05	0	0.0005	3.597e-06	0.0007	0.0085	0.0002	0.0002	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0051	0	0	0	0	0.0002	0	0	0	0	0.0077	0.397	0.10588	T	0.295	0.20680	T	.	.	.	.	.	.	0.000008	0.62929	D	0.110201	0.984922	0.40212	D	.	.	.	-2.82	0.91192	D	0.5	0.02945	N	0.121	0.11197	-0.2787	0.75576	T	0.489	0.80584	T	10	0.0072993636	0.00166	T	.	.	.	0.365	0.68495	.	.	0.730030816842	0.72763	0.37726397527956096	0.37641	0.0737233776591	0.08266	0.480472505093	0.36121	T	.	.	.	-0.320021	0.06895	T	-0.224931	0.52262	T	0.14183958614199	0.16433	T	0.448855	0.12628	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23535	B	.	.	3.122502	0.42162	21.5	0.9907663949192812	0.51858	0.98814	0.87202	D	AEFDBI	0.939947	0.94123	D	-0.0776004974872635	0.38376	2.246723	0.156469677267723	0.47486	2.978065	0.999999999999686	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.6	5.6	0.84997	8.119000	0.89444	11.824000	0.97325	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.0:1.0:0.0	19.206	0.93717	933	0.16026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1310.33	37	chr5	160349583	.	G	A	1310.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.934;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.947;SOR=0.693	GT:AD:DP:GQ:PL	0/1:43,53:96:99:1324,0,1076	18	0	1	0
chr5	160565578	160565578	G	A	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366652:exon25:c.C4261T:p.L1421F,ATP10B:NM_001366655:exon25:c.C4261T:p.L1421F,ATP10B:NM_001366657:exon25:c.C4225T:p.L1409F,ATP10B:NM_025153:exon26:c.C4261T:p.L1421F	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0046	0.00998403	0.0043	0.0153	0.0011	0.0073	0	2.997e-05	0.0056	0.0177	0.0039133	605	154602	rs61734664	0.0018	0.0018	0.0014	0.0022	0.0182	0.0017	0.0017	0.0175	0.0172	0.0154	0.0007	0	0.0052	0	0.0012	6.385e-05	0.0028	0.0182	0.0047	0.0047	0.0045	0.0048	0.0158	0.0044	0.0043	0.0129	0.0123	0.0136	0	0.0008	0	0.0081	0	0	0.0001	0.0033	0.0158	0.24	0.17701	T	0.738	0.05018	T	0.001	0.07471	B	0.002	0.06944	B	0.079211	0.20998	N	0.442392	1	0.08975	N	0.46	0.12951	N	0.89	0.45636	T	-0.52	0.16187	N	0.035	0.01004	-1.0430	0.16413	T	0.044	0.18783	T	9	0.004099667	0.00080	T	.	.	.	0.064	0.18567	.	.	0.380223377699	0.37629	0.07079351427242406	0.07016	0.0846576647168	0.09566	0.228478685021	0.01857	T	0.004191	0.03601	T	-0.691058	0.00041	T	-0.751153	0.03441	T	0.00179444766714016	0.00018	T	0.607939	0.22935	T	0.055694077	0.10857	0.06809045	0.14173	0.055694077	0.10856	0.06809045	0.14172	-4.605	0.32234	T	.	.	0.068	0.02927	B	.;.	.;.	0.378158	0.07500	4.146	0.96907846392621111	0.31566	0.05978	0.11939	N	AEFDHIJ	0.049509	0.08561	N	-0.783032262373867	0.13752	0.679773	-0.741836468698896	0.15923	0.8398563	0.0550910044288657	0.15002	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.58	3.69	0.41483	0.651000	0.24559	1.445000	0.26559	0.676000	0.76740	0.116000	0.23103	0.798000	0.26924	0.693000	0.33928	0.2407:0.0:0.7593:0.0	6.741	0.22623	887	0.27948	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2461.33	37	chr5	160565578	.	G	A	2461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.036;DP=837;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.541;SOR=0.656	GT:AD:DP:GQ:PL	0/1:108,95:203:99:2475,0,2938	18	0	1	0
chr5	172339433	172339433	C	T	exonic	SH3PXD2B	.	nonsynonymous SNV	SH3PXD2B:NM_001017995:exon13:c.G1672A:p.G558S	Frank-ter Haar syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	893933	Inborn_genetic_diseases|not_provided|SH3PXD2B-related_disorder|Frank-Ter_Haar_syndrome	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.|MONDO:MONDO:0009579,MedGen:C1855305,OMIM:249420,Orphanet:1266,Orphanet:137834	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.165	0.0342575011409	.	0.00119808	0.0008	0	0.0003	0	0	0	0.0033	0.0051	0.0006274	97	154602	rs536952235	0.0004	0.0004	0.0002	0.0006	0.0065	0.0004	0.0004	0.0060	0.0058	0	0	0	0	0	0	8.993e-07	0.0004	0.0065	0.0002	0.0002	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	0	0	0	0	0	0	0	0	0	0.0077	0.139	0.25768	T	0.533	0.10000	T	0.264	0.31602	B	0.037	0.23121	B	0.009877	0.30165	N	0.350770	0.988197	0.81001	D	2.045	0.56016	M	0.02	0.62318	T	-0.82	0.22508	N	0.171	0.18239	-0.9935	0.31696	T	0.117	0.41363	T	9	0.005800277	0.00129	T	0.034258	0.55552	D	0.165	0.42395	0.149	0.05238	0.472102515431	0.46837	0.25723572152357327	0.25637	0.316987990756	0.33948	0.590140342712	0.51514	T	0.059286	0.31073	T	-0.369891	0.03599	T	-0.30218	0.44496	T	0.041753905222655	0.04010	T	0.830717	0.49671	T	0.046300776	0.07727	0.045479342	0.06130	0.040679295	0.05853	0.06507799	0.13136	-3.782	0.20536	T	0.19397313558426726	0.25541	0.097	0.15654	B	.	.	1.677358	0.21378	15.17	0.99470264548280007	0.66312	0.91297	0.53250	D	AEFDBI	0.389183	0.46850	N	-0.5562295239414	0.20289	1.06846	-0.473776192462472	0.22879	1.24491	0.994333173724758	0.33591	0.67177	0.52595	0	0.588015	0.36545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.83	4.97	0.65419	3.900000	0.56008	1.845000	0.29216	-0.173000	0.11020	0.993000	0.37899	0.929000	0.28499	0.001000	0.02609	0.1628:0.7572:0.0:0.08	7.834	0.28521	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2016.33	33	chr5	172339433	.	C	T	2016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.91;DP=763;ExcessHet=0;FS=0.677;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=-1.304;SOR=0.796	GT:AD:DP:GQ:PL	0/1:57,68:125:99:2030,0,1618	18	0	1	0
chr5	176103268	176103268	G	A	exonic	FAM153B	.	nonsynonymous SNV	FAM153B:NM_001265615:exon12:c.G475A:p.G159S	.	400	1121	1	0	0	1	0.000445831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00066170224445	.	.	0.0003	0.0018	0.0003	0	0	0.0002	0.0011	0.0001	0.0001153	3	26028	rs747117133	0.0005	0.0007	0.0005	0.0004	0.0048	0.0004	0.0004	0.0042	0.0039	0.0048	0.0010	0.0026	7.557e-05	1.872e-05	0.0005	0.0003	0.0011	2.319e-05	0.0066	0.0080	0.0068	0.0064	0.0196	0.0062	0.0061	0.0184	0.0180	0.0196	0	0.0074	0.0075	0	0	0.0136	0.0005	0.0076	0.0002	0.152	0.24468	T	0.375	0.16231	T	0.94	0.52768	P	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.5	0.36586	N	0.191	0.20925	-1.0485	0.14818	T	0.019	0.07893	T	8	0.0061403513	0.00138	T	6.62E-4	0.00367	T	0.125	0.34456	.	.	0.043077524339	0.03247	0.03153948349752216	0.03102	.	.	0.469973772764	0.34676	T	0.01034	0.09344	T	-0.596256	0.00154	T	-0.66979	0.07622	T	0.015575464088775	0.00355	T	0.416058	0.10924	T	0.036890816	0.04625	0.04473753	0.05862	0.036890816	0.04625	0.04473753	0.05862	-2.012	0.03226	T	.	.	0.224	0.45593	B	.;.;.	.;.;.	0.360950	0.07334	3.952	0.66556798729944366	0.08094	0.00063	0.00458	N	AEFDI	0.028522	0.02529	N	-1.47572551237598	0.02022	0.08887476	-1.66871200197649	0.01282	0.05782747	1.02567232814855E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.26	-2.53	0.05959	-0.219000	0.09233	-1.330000	0.05700	-1.427000	0.01120	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3181:0.193:0.2951:0.1938	0.341	0.00310	889	0.27310	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001672	0.005952	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	673.33	119	chr5	176103268	.	G	A	673.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.27;DP=1406;ExcessHet=0;FS=4.561;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.93;MQRankSum=-5.568;QD=2.61;ReadPosRankSum=-3.535;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,33:258:99:0|1:176103268_G_A:687,0,9291:176103268	18	0	1	0
chr5	176599096	176599096	C	T	exonic	GPRIN1	.	nonsynonymous SNV	GPRIN1:NM_052899:exon2:c.G739A:p.D247N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00502156739427	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438445001	1.437e-05	1.437e-05	1.225e-05	1.65e-05	8.963e-05	9.23e-06	7.84e-06	2.375e-05	1.258e-05	8.963e-05	2.236e-05	0	0	0	0	1.439e-05	1.656e-05	0	2.632e-05	2.628e-05	1.286e-05	4.041e-05	4.833e-05	8.15e-06	5.15e-06	8.01e-06	3e-06	4.833e-05	0	0	0	0	0	0	2.942e-05	0	0	0.198	0.20532	T	0.658	0.06554	T	0.001	0.07471	B	0.001	0.04355	B	0.317732	0.04055	N	1.577040	1	0.08975	N	0.665	0.16292	N	3.12	0.08106	T	-0.3	0.11913	N	0.046	0.01825	-0.9455	0.41731	T	0.020	0.08360	T	10	0.043355644	0.03176	T	0.005022	0.12690	T	0.024	0.04979	0.239	0.17065	0.0675242888579	0.06100	0.033115592162882256	0.03259	.	.	0.230962008238	0.02040	T	0.002008	0.01413	T	-0.411355	0.01947	T	-0.828659	0.01286	T	0.0503429733216763	0.05560	T	0.445455	0.12454	T	0.086246334	0.20039	0.049049832	0.07414	0.086246334	0.20039	0.049049832	0.07414	-4.942	0.36204	T	.	.	0.090	0.12750	B	.	.	1.940382	0.24643	16.47	0.99267681633471261	0.57457	0.05834	0.11776	N	AEFDBI	0.049347	0.08517	N	-0.923781332229678	0.10288	0.4908899	-0.914474306918353	0.11753	0.6006633	0.976736615578321	0.29753	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.18	2.31	0.27816	0.115000	0.15373	1.475000	0.26781	0.599000	0.40250	0.000000	0.06391	0.009000	0.19889	0.120000	0.19168	0.0:0.6229:0.0:0.3771	7.011	0.24044	374	0.84073	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1487.33	80	chr5	176599096	.	C	T	1487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=1422;ExcessHet=0;FS=0.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=1.91;SOR=0.572	GT:AD:DP:GQ:PL	0/1:48,49:97:99:1501,0,1485	18	0	1	0
chr5	177734892	177734892	C	T	exonic	FAM153A	.	nonsynonymous SNV	FAM153A:NM_173663:exon13:c.G475A:p.G159S	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	.	.	0.0044	0.0413	0.0033	0	0	0.0015	0.0029	0.0002	9.06e-05	14	154602	rs202156625	0.0012	0.0012	0.0012	0.0011	0.0259	0.0011	0.0011	0.0244	0.0238	0.0259	0.0020	0.0073	0	0	0.0043	0.0003	0.0032	0.0001	0.0029	0.0049	0.0028	0.0030	0.0102	0.0027	0.0026	0.0093	0.0089	0.0102	0	0.0026	0.0040	0	0	0.0037	0.0001	0.0035	0	0.171	0.22746	T	0.088	0.40586	T	0.998	0.73220	D	0.935	0.67021	D	.	.	.	.	1	0.08975	N	0.695	0.17993	N	.	.	.	-1.78	0.42001	N	0.157	0.17002	-1.0883	0.05821	T	0.003	0.00929	T	8	0.0038717687	0.00073	T	.	.	.	0.038	0.09825	.	.	0.0551355673512	0.04727	0.026419826015098066	0.02591	.	.	0.463420271873	0.33779	T	0.043367	0.26478	T	-0.281399	0.10520	T	-0.641987	0.09525	T	0.0120839184317135	0.00192	T	0.416058	0.10924	T	0.037562437	0.04840	0.043406144	0.05394	0.037562437	0.04840	0.043406144	0.05393	-2.112	0.03636	T	.	.	0.210	0.43815	B	.;.;.	.;.;.	1.186064	0.15772	12.09	0.68029161165668905	0.08533	0.00104	0.00666	N	AEFDI	0.041719	0.06380	N	-0.787827348449265	0.13626	0.6726485	-1.01580625129822	0.09438	0.4695303	1.11465189941432E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.27	0.349	0.15269	-0.140000	0.10323	-20.000000	0.00162	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7419:0.0:0.2581	3.768	0.08153	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019595	0.025862	0.037190	0.009804	0.000000	0.008772	0.004202	0.004310	0.02632	1655.33	38	chr5	177734892	.	C	T	1655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.673;DP=796;ExcessHet=0;FS=28.22;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=41.49;MQRankSum=3.15;QD=13.14;ReadPosRankSum=2.57;SOR=0.771	GT:AD:DP:GQ:PL	0/1:46,80:126:99:1669,0,1679	18	0	1	0
chr6	1313006	1313006	G	A	exonic	FOXQ1	.	nonsynonymous SNV	FOXQ1:NM_033260:exon1:c.G302A:p.G101D	.	314	1191	17	0	0	17	0.00708629	.	.	.	2825663	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	.	0.0039	0.00119808	0.0205	0.0095	0.0072	0.0008	0.0083	0.0285	0.0116	0.0163	0.0035963	556	154602	rs199626291	0.0088	0.0080	0.0089	0.0086	0.0099	0.0086	0.0086	0.0097	0.0097	0.0014	0.0023	0.0103	0.0001	0.0030	0.0022	0.0099	0.0066	0.0042	0.0051	0.0051	0.0056	0.0045	0.0087	0.0048	0.0047	0.0081	0.0079	0.0015	0	0.0014	0.0095	0	0.0033	0	0.0087	0.0043	0.0043	0.181	0.21884	T	0.199	0.27679	T	0.561	0.38362	P	0.166	0.35067	B	0.939196	0.08366	N	0.949192	0.99999	0.08975	N	0.695	0.17993	N	0.37	0.57729	T	-0.39	0.13611	N	0.194	0.21319	-1.0414	0.16890	T	0.042	0.17952	T	10	0.004980266	0.00107	T	.	.	.	0.055	0.15663	.	.	0.300784259202	0.29686	0.26413867288485793	0.26326	.	.	0.856463909149	0.90585	D	0.08505	0.37416	T	-0.490179	0.00648	T	-0.47232	0.25267	T	0.00629917079943835	0.00070	T	0.279272	0.04852	T	0.041404124	0.06089	0.10650694	0.25625	0.041404124	0.06089	0.10650694	0.25624	-7.799	0.59692	D	.	.	0.128	0.27373	B	.	.	2.417411	0.31083	18.63	0.99637282409545935	0.76449	0.19537	0.20699	N	AEFBCI	0.044780	0.07248	N	-0.801798800985491	0.13264	0.6522096	-0.873670911872064	0.12720	0.655933	0.999999922865585	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.38	2.5	0.29355	2.253000	0.42859	2.496000	0.33006	-0.439000	0.05178	0.021000	0.19753	0.973000	0.29867	0.018000	0.11154	0.1253:0.0:0.8747:0.0	8.375	0.31598	966	0.07191	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003568	0.000000	0.005450	0.005917	0.000000	0.000000	0.000000	0.003817	0.05263	2893.83	43	chr6	1313006	.	G	A	2893.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.05;DP=874;ExcessHet=0.119;FS=2.789;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.687;SOR=1.003	GT:AD:DP:GQ:PL	0/1:50,54:104:99:1650,0,1502	17	0	2	0
chr6	10775400	10775400	A	G	exonic	MAK	.	nonsynonymous SNV	MAK:NM_001377262:exon11:c.T1423C:p.W475R,MAK:NM_001242385:exon12:c.T1525C:p.W509R,MAK:NM_001242957:exon12:c.T1525C:p.W509R,MAK:NM_005906:exon12:c.T1525C:p.W509R	Retinitis pigmentosa 62, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1043864	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.564	0.0823915026507	.	.	4.942e-05	0	0	0	0	4.495e-05	0	0.0002	3.88e-05	6	154602	rs779951600	1.642e-05	1.642e-05	1.225e-05	2.063e-05	0.0010	1.111e-05	9.34e-06	0.0005	0.0003	0	2.236e-05	0	0	0	0.0010	5.396e-06	3.312e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.114	0.40747	T	0.97	0.56973	D	0.769	0.56777	P	0.000007	0.62929	D	0.117593	0.999598	0.81001	D	1.7	0.43825	L	-0.96	0.75553	T	-4.54	0.78472	D	0.872	0.86941	-0.1264	0.79485	T	0.438	0.77720	T	10	0.8181127	0.81034	D	0.082392	0.73890	D	0.564	0.82175	0.538	0.64874	0.922944265807	0.92215	0.5880204724605063	0.58732	0.650542140705	0.58328	0.604422211647	0.53529	T	0.154501	0.49582	T	0.100395	0.64334	D	0.109088	0.77513	D	0.295439061618627	0.24815	T	0.727127	0.34152	T	0.55842584	0.70422	0.49969977	0.71075	0.55842584	0.70423	0.49969977	0.71075	-2.186	0.03973	T	0.2644461659488616	0.35664	0.420	0.73633	A	.;.;.;.	.;.;.;.	3.706222	0.52884	23.3	0.98241288556274387	0.39485	0.93800	0.59227	D	AEFBI	0.528092	0.54977	D	0.543799659990124	0.69705	5.395122	0.507695080320028	0.68508	5.229627	0.929830660104292	0.26984	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.664235	0.64389	0	.	.	6.17	6.17	0.99707	5.535000	0.66885	11.046000	0.85237	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	1.0:0.0:0.0:0.0	15.052	0.71546	814	0.42100	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1057.33	35	chr6	10775400	.	A	G	1057.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.719;DP=807;ExcessHet=0;FS=1.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-1.738;SOR=0.866	GT:AD:DP:GQ:PL	0/1:60,48:108:99:1071,0,1411	18	0	1	0
chr6	10935094	10935094	G	A	exonic	SYCP2L	.	nonsynonymous SNV	SYCP2L:NM_001040274:exon21:c.G1720A:p.E574K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00190457744456	0.0031	0.000998403	0.0016	0.0027	0.0004	0	0.0015	0.0022	0.0034	0	0.00152	235	154602	rs139064836	0.0014	0.0014	0.0015	0.0014	0.0026	0.0014	0.0014	0.0021	0.0020	0.0026	0.0003	3.832e-05	0	0.0019	0	0.0016	0.0012	4.679e-05	0.0020	0.0020	0.0020	0.0019	0.0033	0.0018	0.0017	0.0028	0.0026	0.0033	0	0.0005	0	0	0.0020	0	0.0020	0.0009	0	0.493	0.07920	T	0.558	0.09236	T	0.001	0.07471	B	0.001	0.04355	B	0.830896	0.06941	N	1.080420	1	0.08975	N	-0.895	0.01383	N	2.11	0.19860	T	0.68	0.02228	N	0.078	0.05287	-0.9374	0.43025	T	0.006	0.02018	T	10	0.0065694153	0.00149	T	0.001905	0.03351	T	0.043	0.11576	.	.	0.0138822411134	0.00435	0.09647679650925209	0.09579	0.137419240527	0.15494	0.240717470646	0.02855	T	9.02E-4	0.00463	T	-0.687191	0.00043	T	-0.760717	0.03087	T	0.0036025822757857	0.00038	T	0.262274	0.04237	T	0.036689643	0.04563	0.043675374	0.05487	0.036689643	0.04562	0.043675374	0.05487	-4.379	0.29271	T	.	.	0.057	0.00876	B	.;.	.;.	0.692336	0.10608	7.313	0.53877969908757539	0.05026	0.00017	0.00201	N	AEFI	0.016463	0.00371	N	-1.49118602712578	0.01912	0.08390092	-1.39271329410161	0.03329	0.1550673	3.75328935713141E-5	0.03775	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.37	2.96	0.33383	1.029000	0.29747	0.863000	0.22246	-0.529000	0.04963	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.8277:0.0:0.1723:0.0	8.838	0.34282	819	0.41190	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1477.33	35	chr6	10935094	.	G	A	1477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.445;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-0.71;SOR=0.708	GT:AD:DP:GQ:PL	0/1:77,64:141:99:1491,0,1759	18	0	1	0
chr6	15520192	15520192	G	A	exonic	JARID2	.	nonsynonymous SNV	JARID2:NM_001267040:exon18:c.G3166A:p.V1056M,JARID2:NM_004973:exon18:c.G3682A:p.V1228M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.0282740554091	0.0002	.	6.594e-05	0	8.639e-05	0.0001	0	7.498e-05	0	6.063e-05	5.17e-05	8	154602	rs144053937	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	8.968e-05	0.0002	0	0	0	0	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	8.171e-05	6.727e-05	0.0001	0.0001	2.414e-05	0	0.0001	0	0	0	0	0.0002	0	0	0.001	0.78490	D	0.012	0.64786	D	0.669	0.41149	P	0.046	0.24676	B	0.000092	0.51296	D	0.132040	0.999854	0.49910	D	1.095	0.27400	L	-2.38	0.88298	D	-0.58	0.22294	N	0.512	0.57263	-0.2966	0.75079	T	0.291	0.66269	T	10	0.28945893	0.46527	T	0.028274	0.50978	D	0.439	0.74306	.	.	0.801641769357	0.79978	0.4746128776303399	0.47380	0.331932360807	0.35258	0.631737947464	0.57392	T	0.16486	0.51048	T	-0.0370029	0.46393	T	0.0107928	0.71033	D	0.0936066276105811	0.11639	T	0.885311	0.61048	D	0.20169923	0.42190	0.1736824	0.39711	0.20169923	0.42190	0.1736824	0.39710	-4.767	0.34204	T	.	.	0.194	0.47643	B	.;.	.;.	4.357687	0.66984	25.0	0.99826717399223341	0.90852	0.91147	0.52952	D	AEFDBCI	0.658228	0.62958	D	0.158242350071278	0.49202	3.123321	0.311651142769196	0.56222	3.785434	0.999990053998734	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.81	4.95	0.64894	6.884000	0.75403	10.001000	0.83042	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0684:0.0:0.9316:0.0	15.001	0.71127	763	0.50172	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2414.33	42	chr6	15520192	.	G	A	2414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=859;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.691;SOR=0.72	GT:AD:DP:GQ:PL	0/1:108,100:208:99:2428,0,2408	18	0	1	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	1943.2	34	chr6	24145554	.	C	T	1943.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.544;DP=1290;ExcessHet=11.1788;FS=190.289;InbreedingCoeff=-0.4869;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=-0.194;SOR=11.772	GT:AD:DP:GQ:PL	0/1:53,15:73:99:133,0,1037	7	0	12	0
chr6	26087508	26087508	G	A	exonic	HFE	.	nonsynonymous SNV	HFE:NM_000410:exon1:c.G68A:p.R23H,HFE:NM_001300749:exon1:c.G68A:p.R23H,HFE:NM_001384164:exon1:c.G68A:p.R23H,HFE:NM_139003:exon1:c.G68A:p.R23H,HFE:NM_139004:exon1:c.G68A:p.R23H,HFE:NM_139006:exon1:c.G68A:p.R23H,HFE:NM_139007:exon1:c.G68A:p.R23H,HFE:NM_139008:exon1:c.G68A:p.R23H,HFE:NM_139009:exon1:c.G68A:p.R23H,HFE:NM_139010:exon1:c.G68A:p.R23H,HFE:NM_139011:exon1:c.G68A:p.R23H	Hemochromatosis, Autosomal recessive	2	1501	18	1	0	20	0.00661813	.	.	.	299721	not_provided|Hemochromatosis_type_1|Hereditary_hemochromatosis	MedGen:C3661900|MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:139498,Orphanet:465508|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.051	0.295020248665	0.0005	0.000798722	0.0006	0.0002	0.0003	0	0.0002	0.0005	0.0011	0.0019	0.0005757	89	154602	rs148161858	0.0007	0.0007	0.0006	0.0007	0.0021	0.0006	0.0006	0.0018	0.0017	2.989e-05	0.0002	0.0001	0	0.0001	0.0016	0.0006	0.0013	0.0021	0.0004	0.0004	0.0003	0.0005	0.0029	0.0003	0.0003	0.0018	0.0014	0.0002	0	0.0003	0	0	0	0	0.0006	0	0.0029	0.001	0.91255	D	0.013	0.92824	D	0.998	0.90584	D	0.796	0.82059	P	0.164446	0.03064	N	2.113290	1	0.08975	N	0.295	0.10161	N	-2.59	0.89822	D	-2.32	0.51478	N	0.356	0.45142	-0.3476	0.73623	T	0.554	0.83696	D	10	0.0096851885	0.00218	T	0.29502	0.90693	D	0.051	0.14325	.	.	0.773747110012	0.77167	0.551466225450067	0.55072	0.953332268801	0.72727	0.53496837616	0.43734	T	0.186906	0.54035	T	-0.213234	0.18927	T	-0.0855476	0.64496	T	0.0786937886416988	0.09819	T	0.866813	0.67676	D	0.052739207	0.09880	0.05648044	0.10099	0.053234283	0.10044	0.06300366	0.12413	-6.218	0.48069	T	0.4947488435840709	0.57099	0.121	0.36574	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.886442	0.38214	20.7	0.99885710031840236	0.96126	0.11632	0.16761	N	ALL	0.073383	0.14677	N	-0.220729361420122	0.32284	1.819043	-0.358835959463576	0.26237	1.447881	0.999999999998666	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	4.75	2.85	0.32333	0.520000	0.22586	-0.954000	0.06803	0.674000	0.70861	0.023000	0.19925	0.000000	0.08366	0.378000	0.26290	0.0:0.1749:0.629:0.1961	7.596	0.27215	495	0.76383	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.000000	0.001362	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	994.33	35	chr6	26087508	.	G	A	994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.771;DP=708;ExcessHet=0;FS=3.102;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.323;SOR=1.039	GT:AD:DP:GQ:PL	0/1:35,41:76:99:1008,0,746	18	0	1	0
chr6	27957616	27957616	A	G	exonic	OR2B6	.	nonsynonymous SNV	OR2B6:NM_012367:exon1:c.A376G:p.I126V	.	424	1077	20	1	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	0.0005	0.00479233	0.0059	0.0010	0.0007	0.0003	0	0.0002	0.0033	0.0409	0.0048576	751	154602	rs143223456	0.0028	0.0028	0.0014	0.0042	0.0425	0.0027	0.0027	0.0413	0.0409	0.0013	0.0001	0.0007	0.0005	0	0.0102	0.0002	0.0015	0.0425	0.0014	0.0014	0.0009	0.0020	0.0344	0.0013	0.0012	0.0302	0.0285	0.0007	0	6.55e-05	0.0006	0.0019	0	0	8.825e-05	0.0005	0.0344	0.903	0.02407	T	1.0	0.01155	T	0.008	0.14655	B	0.05	0.25278	B	0.004577	0.33608	U	0.000000	0.638709	0.32856	D	0.57	0.15267	N	0.73	0.50721	T	-0.08	0.08187	N	0.508	0.53972	-1.0650	0.10549	T	0.042	0.17869	T	10	0.006839961	0.00155	T	.	.	.	0.105	0.29889	.	.	0.54456359225	0.54111	0.14947189597647004	0.14869	0.0639061766001	0.07121	0.325245440006	0.14215	T	0.005922	0.05364	T	-0.457479	0.01019	T	-0.431387	0.29779	T	0.0305732340930483	0.02079	T	0.622038	0.23930	T	0.06276232	0.13143	0.062467888	0.12226	0.06276232	0.13143	0.062467888	0.12225	-4.159	0.26155	T	.	.	0.097	0.15877	B	.	.	1.988445	0.25265	16.70	0.39403202385802433	0.02717	0.97488	0.75073	D	AEFGBI	0.466915	0.51436	N	-0.377714764813272	0.26264	1.432113	-0.258030348275566	0.29496	1.652963	0.998758606467048	0.37602	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.68	3.68	0.41359	6.849000	0.75212	0.068000	0.14222	0.752000	0.88150	1.000000	0.71638	0.000000	0.08366	0.996000	0.76049	1.0:0.0:0.0:0.0	10.916	0.46346	481	0.77356	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.000000	0.005435	0.035088	0.000000	0.008621	0.009146	0.037879	0.02632	1649.33	33	chr6	27957616	.	A	G	1649.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.059;DP=808;ExcessHet=0;FS=0.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=0.272;SOR=0.619	GT:AD:DP:GQ:PL	0/1:110,65:175:99:1663,0,3375	18	0	1	0
chr6	28260114	28260114	C	A	exonic	NKAPL	.	nonsynonymous SNV	NKAPL:NM_001007531:exon1:c.C743A:p.S248Y	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	7.7e-05	0.00239617	0.0043	0.0002	0.0005	0	0	6.959e-05	0.0037	0.0282	0.0030983	479	154602	rs377279849	0.0016	0.0017	0.0007	0.0026	0.0285	0.0016	0.0015	0.0275	0.0271	0	0	0	0	0	0.0012	9.051e-06	0.0006	0.0285	0.0007	0.0007	0.0003	0.0011	0.0220	0.0006	0.0005	0.0186	0.0174	0	0	0	0	0	0	0	0	0	0.0220	0.514	0.07401	T	0.03	0.54159	D	0.006	0.13644	B	0.005	0.11217	B	0.000082	0.00436	N	38.570000	0.966269	0.38519	D	1.5	0.37844	L	2.49	0.14531	T	-3.34	0.66325	D	0.139	0.13769	-0.9571	0.39717	T	0.012	0.04747	T	10	0.0026673973	0.00041	T	.	.	.	0.076	0.22200	.	.	0.0666544352282	0.05500	0.192862456312426	0.19204	0.555486334533	0.52246	0.312239766121	0.12245	T	0.053539	0.29470	T	-0.666268	0.00058	T	-0.708875	0.05353	T	0.0343689718998629	0.02701	T	0.316468	0.06291	T	0.13378544	0.31105	0.14381708	0.34165	0.13378544	0.31105	0.14381708	0.34164	-6.062	0.46795	T	.	.	0.086	0.10787	B	.	.	1.309856	0.17126	12.98	0.76940388349203215	0.11671	0.81260	0.40701	D	AEFDBI	0.154988	0.28011	N	-0.65836251679759	0.17217	0.8840706	-0.670536542136449	0.17700	0.9422749	0.355655533109289	0.19727	0.549168	0.22868	0	0.547309	0.14657	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.21	-0.281	0.12244	0.507000	0.22383	-0.216000	0.10808	0.599000	0.40250	0.268000	0.25027	0.000000	0.08366	0.642000	0.32476	0.3475:0.2971:0.2637:0.0917	2.436	0.04210	495	0.76383	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005040	0.000000	0.000000	0.008772	0.000000	0.000000	0.003049	0.022727	0.02632	1377.33	33	chr6	28260114	.	C	A	1377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.266;DP=1102;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.302;SOR=0.652	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1391,0,1610	18	0	1	0
chr6	29086320	29086320	A	G	exonic	OR2B3	.	nonsynonymous SNV	OR2B3:NM_001005226:exon1:c.T929C:p.F310S	.	436	1062	22	2	0	26	0.012093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	7.7e-05	0.00219649	0.0017	0.0001	8.783e-05	0.0008	0	0.0002	0.0037	0.0154	0.0014295	221	154602	rs191206751	0.0007	0.0008	0.0004	0.0010	0.0105	0.0007	0.0007	0.0099	0.0097	0	0.0001	0.0012	0.0005	0	0.0043	3.557e-05	0.0010	0.0105	0.0004	0.0004	0.0002	0.0006	0.0089	0.0003	0.0003	0.0068	0.0061	0	0	0.0001	0.0006	0.0012	0	0	4.41e-05	0	0.0089	0.503	0.07670	T	0.532	0.10034	T	0.0	0.02946	B	0.0	0.01387	B	0.140344	0.18312	N	0.391760	1	0.08975	N	0.525	0.13617	N	1.28	0.35960	T	0.83	0.01787	N	0.117	0.10626	-0.9585	0.39461	T	0.015	0.05897	T	10	0.004331231	0.00088	T	.	.	.	0.076	0.22200	.	.	0.285698343383	0.28168	0.18730789579061616	0.18648	0.0216671538295	0.02158	0.430683046579	0.29302	T	0.010033	0.09096	T	-0.616412	0.00116	T	-0.650248	0.08936	T	0.00737898477049242	0.00085	T	.	.	.	0.09837459	0.23202	0.12191434	0.29411	0.09837459	0.23202	0.12191434	0.29410	-2.801	0.08193	T	.	.	0.080	0.07937	B	.	.	0.644532	0.10131	6.875	0.57257919906128119	0.05730	0.16656	0.19489	N	AEFI	0.034108	0.04168	N	-0.914908192281828	0.10493	0.5016755	-0.891293770706276	0.12300	0.6318825	3.50000745799198E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.15	1.98	0.25351	0.641000	0.24411	.	.	0.582000	0.30178	0.027000	0.20232	0.000000	0.08366	0.302000	0.24547	0.7447:0.0:0.2553:0.0	5.252	0.14843	754	0.51307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005991	0.000000	0.001359	0.037234	0.000000	0.000000	0.009146	0.003788	0.02632	773.33	34	chr6	29086320	.	A	G	773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.262;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=2.43;SOR=0.567	GT:AD:DP:GQ:PL	0/1:30,30:60:99:787,0,831	18	0	1	0
chr6	29588710	29588710	G	A	exonic	OR2H2	.	nonsynonymous SNV	OR2H2:NM_007160:exon1:c.G766A:p.V256I	.	439	1058	25	0	0	25	0.0116768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	0.0001	0.00599042	0.0067	0.0001	0.0006	0.0005	0	0.0004	0.0034	0.0451	0.0052975	819	154602	rs147023039	0.0030	0.0029	0.0014	0.0046	0.0443	0.0029	0.0029	0.0432	0.0427	3.211e-05	8.969e-05	0.0007	0.0004	0	0.0094	0.0002	0.0012	0.0443	0.0014	0.0014	0.0008	0.0019	0.0365	0.0012	0.0011	0.0321	0.0304	2.406e-05	0	6.533e-05	0.0006	0.0023	0	0	0.0002	0.0005	0.0365	0.21	0.19639	T	0.205	0.27145	T	0.127	0.26966	B	0.122	0.32387	B	0.042437	0.23843	N	0.209202	0.999996	0.58761	D	-0.17	0.04298	N	8.74	0.00084	T	-0.33	0.12472	N	0.178	0.19190	-1.0256	0.21886	T	0.000	0.00039	T	10	0.0038820803	0.00074	T	.	.	.	0.103	0.29403	.	.	0.16115917748	0.15686	0.052412846359074824	0.05183	0.16524632657	0.18640	0.215086326003	0.01045	T	0.002115	0.01518	T	-0.513781	0.00478	T	-0.476479	0.24821	T	0.0367894765877239	0.03119	T	.	.	.	0.06785004	0.14732	0.2535041	0.50999	0.06785004	0.14732	0.2535041	0.50998	-3.542	0.17025	T	.	.	0.089	0.12938	B	.;.	.;.	2.122607	0.27015	17.32	0.97411633701978251	0.33825	0.11678	0.16791	N	AEFBI	0.063953	0.12390	N	-0.379795791006554	0.26189	1.427469	-0.288588738300988	0.28473	1.587876	0.195256041529539	0.18050	0.421363	0.06395	0	0.563428	0.19063	0	0.536957	0.11973	0	0.530356	0.10902	0	.	.	4.1	4.1	0.47196	1.328000	0.33364	.	.	0.618000	0.50648	0.001000	0.13787	0.000000	0.08366	0.995000	0.73285	0.2114:0.0:0.7885:0.0	6.149	0.19517	846	0.36215	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012527	0.000000	0.002717	0.053191	0.000000	0.008621	0.006098	0.034091	0.02632	2324.33	39	chr6	29588710	.	G	A	2324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.23;DP=935;ExcessHet=0;FS=1.245;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.6;MQRankSum=-0.593;QD=14.44;ReadPosRankSum=-1.113;SOR=0.58	GT:AD:DP:GQ:PL	0/1:81,80:161:99:2338,0,2446	18	0	1	0
chr6	31138459	31138459	G	A	exonic	PSORS1C1	.	nonsynonymous SNV	PSORS1C1:NM_014068:exon4:c.G43A:p.G15S	.	434	1012	71	5	0	81	0.0384798	0.8953	0.78	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0038	0.028155	0.0171	0.0062	0.0180	0.0502	0.0005	0.0018	0.0126	0.0719	0.0147152	2275	154602	rs79592231	0.0087	0.0087	0.0063	0.0111	0.0830	0.0086	0.0085	0.0806	0.0797	0.0068	0.0158	0.0020	0.0830	0.0005	0.0389	0.0014	0.0079	0.0711	0.0070	0.0070	0.0059	0.0080	0.0561	0.0066	0.0065	0.0506	0.0484	0.0057	0	0.0105	0.0014	0.0497	0.0006	0.0102	0.0015	0.0109	0.0561	0.596	0.05703	T	0.632	0.07150	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.30297	N	0	0.06538	N	2.93	0.09822	T	-2.0	0.46146	N	0.129	0.12341	-0.9064	0.47285	T	0.003	0.01059	T	9	0.0019145608	0.00026	T	0.005003	0.12629	T	0.014	0.01968	.	.	.	.	0.011174808878009649	0.01077	0.395066701546	0.40657	0.272165417671	0.06425	T	0.003193	0.02596	T	-0.758823	0.00015	T	-0.785295	0.02297	T	0.000963482096187824	0.00009	T	.	.	.	0.028497277	0.02197	0.06630027	0.13561	0.028497277	0.02196	0.06630027	0.13561	-3.309	0.13853	T	.	.	0.124	0.26042	B	.	.	1.916377	0.24341	16.36	0.6355789699833716	0.07255	0.00820	0.03314	N	AEFBI	0.054998	0.10047	N	-1.8206001834593	0.00497	0.0213779	-1.85822435189454	0.00590	0.02621353	0.964727559517347	0.28780	0.554377	0.28877	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	2.34	-2.07	0.06873	-1.162000	0.03252	.	.	-1.866000	0.00557	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4029:0.2015:0.3955	3.524	0.07308	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028403	0.010101	0.010870	0.086957	0.000000	0.035088	0.037037	0.041667	0.07895	5282.79	54	chr6	31138459	.	G	A	5282.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.83;DP=1719;ExcessHet=0.3672;FS=2.633;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.302;SOR=0.576	GT:AD:DP:GQ:PL	0/1:82,68:150:99:1928,0,1987	16	0	3	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	35598.0	224	chr6	31271153	.	A	*	35598.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=3489;ExcessHet=38.2876;FS=0.539;InbreedingCoeff=-0.9;MLEAC=1;MLEAF=0.026;MQ=52.46;MQRankSum=-2.612;QD=11.21;ReadPosRankSum=0.007;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,26:210:99:0|1:31271151_TCA_T:538,0,7627:31271151	18	0	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	28154.8	93	chr6	31356247	.	C	*	28154.8	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.65;DP=2188;ExcessHet=3.6106;FS=0.533;InbreedingCoeff=-0.1709;MLEAC=4;MLEAF=0.105;MQ=49.38;MQRankSum=-1.585;QD=15.54;ReadPosRankSum=-0.627;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,65:148:99:.:.:5107,2566,3289:.	15	0	4	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	3519.96	21	chr6	31356431	.	G	*	3519.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.34;DP=961;ExcessHet=2.8292;FS=1.184;InbreedingCoeff=-0.1474;MLEAC=14;MLEAF=0.368;MQ=56.06;MQRankSum=-1.664;QD=4.03;ReadPosRankSum=0.13;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,37:79:99:0|1:31356424_C_G:1427,0,1652:31356424	7	2	10	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8684	754.83	150	chr6	31356748	.	CCT	*	754.83	.	AC=33;AF=0.868;AN=38;DP=2092;ExcessHet=0.7564;FS=0.797;InbreedingCoeff=-0.1176;MLEAC=33;MLEAF=0.868;MQ=52.89;QD=0.36;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,137:137:99:1|1:31356739_C_A:6165,412,0:31356739	0	14	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	15088.7	61	chr6	31412384	.	G	*	15088.7	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.42;DP=1354;ExcessHet=5.6906;FS=0;InbreedingCoeff=-0.2828;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=0.242;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,35:70:99:.:.:1067,0,1093:.	7	1	11	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	9298.23	135	chr6	31625601	.	T	C	9298.23	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-2.715;DP=2550;ExcessHet=25.4433;FS=276.319;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=1.09;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,40:135:99:0|1:31625601_T_C:770,0,3059:31625601	1	0	16	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	10016.2	136	chr6	31625602	.	G	A	10016.2	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-3.692;DP=2549;ExcessHet=25.4433;FS=287.442;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=1.15;SOR=12.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,40:135:99:0|1:31625601_T_C:770,0,3059:31625601	1	0	16	2
chr6	31810376	31810376	C	G	exonic	HSPA1L	.	nonsynonymous SNV	HSPA1L:NM_005527:exon2:c.G1597C:p.V533L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00740654503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0021	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	0.0002	0	0	2.525e-05	0	0	0.0002	0.0001	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.10052	T	0.161	0.31326	T	0.013	0.16609	B	0.056	0.26147	B	0.185742	0.03214	N	1.966570	1	0.08975	N	-1.105	0.00963	N	5.53	0.00894	T	-0.49	0.15578	N	0.115	0.10340	-0.9371	0.43072	T	0.001	0.00222	T	10	0.03462872	0.01678	T	0.007407	0.19657	T	0.029	0.06676	0.357	0.35897	0.371718192555	0.36778	0.15855101505881897	0.15776	0.267744745311	0.29313	0.328189313412	0.14660	T	0.004791	0.04206	T	-0.333095	0.05880	T	-0.716245	0.04979	T	0.153081059455872	0.17347	T	.	.	.	0.05782822	0.11556	0.0916961	0.21573	0.05782822	0.11556	0.0916961	0.21572	-3.124	0.11574	T	.	.	0.079	0.07365	B	.	.	-0.100834	0.03638	0.723	0.73951968360265008	0.10515	0.09685	0.15385	N	AEFBI	0.130493	0.24906	N	-1.10104396103768	0.06625	0.305511	-1.06678862214965	0.08361	0.410748	0.988801212773729	0.31633	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.55	-0.647	0.10892	-0.207000	0.09388	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.140000	0.19946	0.0:0.3308:0.2673:0.4019	5.069	0.13935	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08824	324.25	143	chr6	31810376	.	C	G	324.25	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-4.257;DP=2402;ExcessHet=0.3672;FS=193.172;InbreedingCoeff=-0.1207;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=1.37;SOR=10.125	GT:AD:DP:GQ:PL	0/1:111,34:145:99:104,0,1970	14	0	3	2
chr6	31810463	31810463	T	C	exonic	HSPA1L	.	nonsynonymous SNV	HSPA1L:NM_005527:exon2:c.A1510G:p.T504A	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0143312323943	.	.	1.652e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs755419733	1.163e-05	1.231e-05	5.446e-06	1.788e-05	0.0002	7.09e-06	5.79e-06	0.0001	9.451e-05	0	0	0	0	0	0	0	1.656e-05	0.0002	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	0.005	0.63226	D	0.03	0.54159	D	0.943	0.53072	P	0.971	0.72444	D	0.002993	0.35606	N	0.000000	0.999998	0.58761	D	3.35	0.91085	M	5.38	0.01033	T	-3.17	0.64363	D	0.819	0.81459	-1.1854	0.00296	T	0.021	0.08686	T	10	0.8261435	0.81794	D	0.014331	0.34374	T	0.393	0.70844	0.657	0.79482	0.795191206146	0.79328	0.16562987761433795	0.16482	0.913928028628	0.71167	0.688356697559	0.65469	T	0.088931	0.38264	T	-0.0605375	0.42823	T	-0.0880659	0.64307	T	0.783038762493839	0.45241	D	.	.	.	0.23403813	0.46217	0.24778363	0.50316	0.23403813	0.46217	0.24778363	0.50315	-7.628	0.58506	D	.	.	0.133	0.28664	B	.	.	4.112968	0.61418	24.3	0.99811218399199864	0.89531	0.99138	0.91786	D	AEFBI	0.910071	0.86752	D	0.976953971306637	0.94991	13.21348	0.896101849767979	0.95400	13.58625	0.999999999865998	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.55	5.55	0.83298	8.017000	0.88732	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	13.687	0.61999	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	.	.	.	.	.	.	.	.	0.02632	2092.33	143	chr6	31810463	.	T	C	2092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.137;DP=2455;ExcessHet=0;FS=4.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.392;SOR=0.579	GT:AD:DP:GQ:PL	0/1:75,79:154:99:2106,0,2266	18	0	1	0
chr6	32181363	32181363	C	T	exonic	AGER	.	nonsynonymous SNV	AGER:NM_001136:exon10:c.G1106A:p.R369Q,AGER:NM_001206929:exon10:c.G1154A:p.R385Q,AGER:NM_001206932:exon10:c.G1064A:p.R355Q	.	415	1020	79	8	0	95	0.0444965	.	.	.	699532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.039	.	0.0024	0.00958466	0.0074	0.0015	0.0288	0.0080	0	0.0020	0.0067	0.0201	0.0068628	1061	154602	rs3176931	0.0035	0.0035	0.0029	0.0040	0.0236	0.0034	0.0034	0.0224	0.0219	0.0007	0.0236	7.677e-05	0.0061	0.0002	0.0167	0.0012	0.0085	0.0204	0.0034	0.0034	0.0036	0.0032	0.0184	0.0032	0.0031	0.0153	0.0142	0.0012	0	0.0113	0	0.0110	9.407e-05	0.0102	0.0019	0.0080	0.0184	0.532	0.91255	T	0.704	0.09052	T	0.007	0.14184	B	0.003	0.08700	B	0.375220	0.04386	N	1.379500	1	0.08975	N	.	.	.	1.19	0.37910	T	-0.47	0.52128	N	0.096	0.07811	-1.0536	0.13413	T	0.017	0.06902	T	10	0.002130419	0.00031	T	.	.	.	0.039	0.10176	.	.	0.0716867268079	0.06686	0.17818856528763435	0.17737	0.176059839668	0.19819	0.226081043482	0.01691	T	0.005723	0.24916	T	-0.636222	0.00088	T	-0.668412	0.07711	T	0.00302830581673903	0.00032	T	0.408059	0.10511	T	0.016678704	0.00214	0.035600707	0.02844	0.016678704	0.00214	0.035600707	0.02843	-4.933	0.37548	T	.	.	0.069	0.06024	B	.;.;.;.;.	.;.;.;.;.	-0.020336	0.04144	0.990	0.811079802221224	0.13523	0.01926	0.05878	N	AEFBCI	0.022353	0.01107	N	-2.21518179078559	0.00071	0.003031937	-2.27190542192637	0.00077	0.003372642	0.999999999933849	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.29	-8.51	0.00804	-2.400000	0.01127	.	.	-1.756000	0.00682	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.0:0.6835:0.1041:0.2124	14.712	0.68856	929	0.16858	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013072	0.005051	0.002717	0.047872	0.000000	0.000000	0.003049	0.045455	0.05263	4260.83	33	chr6	32181363	.	C	T	4260.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.51;DP=890;ExcessHet=0.119;FS=1.433;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=1.15;SOR=0.662	GT:AD:DP:GQ:PL	0/1:61,73:134:99:2083,0,1534	17	0	2	0
chr6	32220260	32220260	A	G	exonic	NOTCH4	.	nonsynonymous SNV	NOTCH4:NM_004557:exon7:c.T1184C:p.M395T	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.176709408394	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs779873838	1.095e-05	1.094e-05	5.447e-06	1.651e-05	0.0002	6.48e-06	5.25e-06	0.0001	8.646e-05	0	0	0	0	0	0	0	1.657e-05	0.0002	6.572e-06	6.563e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.028	0.46129	D	0.202	0.27414	T	0.199	0.29618	B	0.003	0.08700	B	0.004766	0.33407	N	0.136255	0.712206	0.30003	N	-0.32	0.03561	N	-2.16	0.86549	D	-0.87	0.23590	N	0.338	0.37923	-0.3727	0.72879	T	0.317	0.68664	T	10	0.33978435	0.51059	T	0.176709	0.85239	D	0.361	0.68141	0.38	0.39645	0.702675869028	0.70009	0.7140479947542274	0.71347	0.292063610931	0.31614	0.44973012805	0.31906	T	0.017118	0.14025	T	-0.142736	0.29456	T	-0.206139	0.54064	T	0.452609300613403	0.30893	T	0.789521	0.42989	T	0.095030166	0.22357	0.35966188	0.61421	0.095030166	0.22357	0.35966188	0.61421	-4.023	0.24147	T	.	.	0.140	0.30555	B	.	.	1.453085	0.18743	13.90	0.98348709051046068	0.40517	0.75141	0.36778	D	AEFDBI	0.230718	0.35405	N	-0.395392706955488	0.25631	1.392893	-0.353351526256185	0.26406	1.458295	0.533082350634125	0.21191	0.460665	0.09802	0	0.563428	0.19063	0	0.547309	0.15389	0	0.636168	0.56350	0	.	.	4.17	0.027	0.13471	3.308000	0.51605	.	.	0.691000	0.84096	1.000000	0.71638	0.009000	0.19889	0.992000	0.67800	0.3777:0.5249:0.0974:0.0	6.276	0.20190	934	0.15400	EGF-like domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	923.33	35	chr6	32220260	.	A	G	923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.74;DP=714;ExcessHet=0;FS=1.813;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.174;SOR=0.509	GT:AD:DP:GQ:PL	0/1:43,38:81:99:937,0,1301	18	0	1	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	1395.66	11	chr6	32521970	.	G	*	1395.66	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.94;DP=3885;ExcessHet=12.1646;FS=6.428;InbreedingCoeff=-0.5081;MLEAC=12;MLEAF=0.375;MQ=54.99;MQRankSum=-8.845;QD=0.55;ReadPosRankSum=-4.685;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,58:259:99:0|1:32521930_A_C:1951,0,6586:32521930	5	0	11	3
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	10871.8	10	chr6	32521978	.	GT	*	10871.8	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.86;DP=3693;ExcessHet=2.6076;FS=6.987;InbreedingCoeff=-0.1963;MLEAC=12;MLEAF=0.375;MQ=51.5;MQRankSum=-8.353;QD=4.27;ReadPosRankSum=-5.004;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,52:238:99:0|1:32521930_A_C:1727,0,6106:32521930	5	0	11	3
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	36204.6	117	chr6	32530184	.	T	*	36204.6	.	AC=24;AF=0.632;AN=38;BaseQRankSum=-1.048;DP=1952;ExcessHet=0.0506;FS=1.466;InbreedingCoeff=0.3091;MLEAC=24;MLEAF=0.632;MQ=55.76;MQRankSum=-11;QD=20.24;ReadPosRankSum=-1.33;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,12:115:99:0|1:32530184_T_*:4778,4111,4175:32530184	1	6	12	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	40557.0	113	chr6	32530185	.	T	*	40557.0	.	AC=21;AF=0.583;AN=36;DP=1897;ExcessHet=0.0015;FS=0.786;InbreedingCoeff=0.4685;MLEAC=22;MLEAF=0.611;MQ=55.19;QD=24.54;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,12:115:99:0|1:32530184_T_*:4778,4111,4175:32530184	2	5	11	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	26525.4	396	chr6	32584171	.	G	*	26525.4	.	AC=8;AF=0.25;AN=32;BaseQRankSum=2.71;DP=4029;ExcessHet=3.0446;FS=0;InbreedingCoeff=-0.0795;MLEAC=9;MLEAF=0.281;MQ=53.9;MQRankSum=3.91;QD=8.9;ReadPosRankSum=-0.971;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,130:250:99:0|1:32584162_G_T:5016,0,4648:32584162	8	0	8	3
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	8530.17	402	chr6	32584178	.	G	*	8530.17	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.31;DP=4315;ExcessHet=3.6106;FS=1.159;InbreedingCoeff=-0.1709;MLEAC=18;MLEAF=0.474;MQ=53.54;MQRankSum=-3.51;QD=2.37;ReadPosRankSum=0.706;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,136:258:99:0|1:32584162_G_T:5343,0,4713:32584162	3	2	14	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	53026.9	322	chr6	32584370	.	G	*	53026.9	.	AC=15;AF=0.417;AN=36;BaseQRankSum=3.39;DP=5457;ExcessHet=0.2833;FS=5.809;InbreedingCoeff=0.0877;MLEAC=15;MLEAF=0.417;MQ=53.43;MQRankSum=-13.94;QD=10.7;ReadPosRankSum=-1.02;SOR=1.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,88:430:99:0|1:32584366_C_T:3089,0,11099:32584366	3	0	15	1
chr6	32589652	32589652	C	T	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.G91A:p.D31N	.	1	1468	50	3	0	56	0.0187166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00201232087945	0.0001	0.000199681	0.0005	0.0001	0.0004	0.0004	0	9.232e-05	0	0.0026	0.0003687	57	154602	rs372634318	0.0004	0.0003	0.0002	0.0005	0.0166	0.0003	0.0003	0.0126	0.0112	0	0.0001	0	0.0004	2.422e-05	0.0166	2.577e-05	0.0005	0.0045	0.0001	0.0001	1.844e-05	0.0002	0.0037	7.345e-05	5.846e-05	0.0020	0.0015	0	0	0	0	0.0003	0	0	4.035e-05	0	0.0037	0.0	0.91255	D	0.071	0.43531	T	0.987	0.61912	D	0.914	0.64984	D	0.396439	0.04508	N	1.376800	1	0.08975	N	.	.	.	8.35	0.00252	T	-1.93	0.44852	N	0.438	0.47672	-0.8790	0.49840	T	0.001	0.00255	T	10	0.017746776	0.00381	T	0.002012	0.03642	T	0.089	0.25827	.	.	0.447901950027	0.44410	0.15851251124645957	0.15772	0.75651630784	0.64033	.	.	.	0.012023	0.10639	T	-0.46956	0.00855	T	-0.451571	0.27523	T	0.173749442671835	0.18832	T	0.757524	0.38090	T	0.31595802	0.54297	0.2519697	0.50818	0.31595802	0.54297	0.2519697	0.50817	-7.629	0.58513	D	.	.	0.100	0.16929	B	.	.	3.743977	0.53625	23.4	0.99823868945339478	0.90677	0.07660	0.13666	N	ALL	0.253131	0.37268	N	0.00761355807847777	0.42201	2.538276	-0.200087543572262	0.31534	1.785499	0.999999814549714	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.53	0.29594	0.909000	0.28180	.	.	0.595000	0.32841	0.785000	0.29533	0.000000	0.08366	0.010000	0.09038	0.0:0.7072:0.1881:0.1047	6.172	0.19638	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	0.005371	0.000000	0.000000	0.031250	0.000000	0.000000	0.000000	0.011450	0.02632	4281.33	281	chr6	32589652	.	C	T	4281.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.342;DP=3374;ExcessHet=0;FS=1.988;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.05;MQRankSum=12.64;QD=24.89;ReadPosRankSum=2.62;SOR=0.896	GT:AD:DP:GQ:PL	0/1:64,108:172:99:4295,0,2322	18	0	1	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8603.32	126	chr6	32641444	.	G	*	8603.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.16;DP=3608;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.46;MQRankSum=-11.23;QD=2.84;ReadPosRankSum=-3.962;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,75:271:99:0|1:32641430_C_T:2559,0,8004:32641430	4	4	11	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8744.32	123	chr6	32641445	.	A	*	8744.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.85;DP=3609;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.48;MQRankSum=-11.25;QD=2.89;ReadPosRankSum=-3.865;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,75:271:99:0|1:32641430_C_T:2559,0,8004:32641430	4	4	11	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8228.31	130	chr6	32641462	.	G	*	8228.31	.	AC=20;AF=0.526;AN=38;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=56.58;QD=2.65;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,73:287:99:0|1:32641430_C_T:2421,0,8716:32641430	3	4	12	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8147.31	129	chr6	32641464	.	T	*	8147.31	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.229;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=57.44;MQRankSum=-9.417;QD=2.64;ReadPosRankSum=-2.677;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,73:287:99:0|1:32641430_C_T:2421,0,8716:32641430	3	4	12	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	17426.3	154	chr6	32641501	.	G	*	17426.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.31;DP=3915;ExcessHet=1.7862;FS=1.137;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.28;MQRankSum=-6.588;QD=5.23;ReadPosRankSum=1.7;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,55:301:99:0|1:32641476_G_A:1569,0,10164:32641476	4	4	11	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18488.6	155	chr6	32641522	.	A	*	18488.6	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.13;DP=4106;ExcessHet=1.7862;FS=3.314;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.48;MQRankSum=-6.247;QD=5.33;ReadPosRankSum=2.42;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:258,51:309:99:0|1:32641476_G_A:1253,0,10605:32641476	4	4	11	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L,HLA-DQB1:NM_002123:exon2:c.G260T:p.R87L	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	103383.0	261	chr6	32664917	.	C	A	103383.0	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.913;DP=4733;ExcessHet=1.7862;FS=2.506;InbreedingCoeff=-0.0523;MLEAC=7;MLEAF=0.184;MQ=59.58;MQRankSum=-0.09;QD=25.85;ReadPosRankSum=0.279;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,19:174:99:0|1:32664917_C_A:331,0,6451:32664917	12	0	7	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L,HLA-DQB1:NM_002123:exon2:c.C251T:p.P84L	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	5027.38	268	chr6	32664926	.	G	A	5027.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=5.58;DP=4649;ExcessHet=2.9153;FS=1.642;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.8;MQRankSum=-9.658;QD=3.27;ReadPosRankSum=-3.733;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,26:190:99:0|1:32664917_C_A:598,0,6808:32664917	12	0	7	0
chr6	32745244	32745244	G	C	exonic	HLA-DQA2	.	nonsynonymous SNV	HLA-DQA2:NM_020056:exon2:c.G168C:p.E56D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0113176437646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.989	0.62824	D	0.957	0.69900	D	0.000155	0.49130	U	0.132552	0.999538	0.21028	N	3.885	0.96017	H	4.92	0.01404	T	-2.71	0.57762	D	0.629	0.64308	-1.0476	0.15073	T	0.012	0.04795	T	10	0.7818792	0.77922	D	0.011318	0.28825	T	0.156	0.40720	0.665	0.80300	0.319114376414	0.31517	0.25841224985294603	0.25755	1.17843841933	0.79943	0.536704182625	0.43980	T	0.009404	0.08568	T	-0.0890155	0.38240	T	-0.365641	0.37399	T	0.996204316616058	0.88872	D	.	.	.	0.086159885	0.20015	0.16626668	0.38420	0.086159885	0.20015	0.16626668	0.38420	-8.379	0.63625	D	.	.	0.586	0.68293	P	.	.	2.699106	0.35250	19.85	0.99717489428128669	0.81773	0.63791	0.32200	D	AEFBI	0.108430	0.21571	N	0.0160204800996947	0.42583	2.568538	-0.252715069046029	0.29678	1.664661	1.54554768306338E-5	0.02871	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.2	1.35	0.21078	1.012000	0.29527	.	.	0.320000	0.19365	0.865000	0.30702	0.000000	0.08366	0.114000	0.18915	0.3001:0.0:0.6999:0.0	4.843	0.12864	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha 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	.	.	.	.	.	.	.	.	0.02632	109.33	226	chr6	32745244	.	G	C	109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.809;DP=1964;ExcessHet=0;FS=149.394;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=3.13;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,38:206:99:0|1:32745244_G_C:123,0,5720:32745244	18	0	1	0
chr6	32745247	32745247	G	C	exonic	HLA-DQA2	.	nonsynonymous SNV	HLA-DQA2:NM_020056:exon2:c.G171C:p.E57D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00307650922884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.41915	D	0.026	0.55759	D	0.206	0.29860	B	0.151	0.34210	B	0.181230	0.03183	U	1.832950	0.999994	0.08975	N	3.135	0.88152	M	5.75	0.00703	T	-0.89	0.24026	N	0.182	0.19728	-0.9353	0.43349	T	0.002	0.00738	T	10	0.14395636	0.27326	T	0.003077	0.06666	T	0.051	0.14325	0.241	0.17371	0.176091768786	0.17195	0.3220455009851385	0.32117	0.460356281255	0.45595	0.380718648434	0.22358	T	0.001988	0.01394	T	-0.233951	0.16130	T	-0.573831	0.15099	T	0.146121993660927	0.16790	T	.	.	.	0.068053745	0.14793	0.13088901	0.31441	0.068053745	0.14792	0.13088901	0.31441	-9.824	0.72851	D	.	.	0.492	0.64229	A	.	.	1.310143	0.17132	12.98	0.98901956756681497	0.48199	0.02900	0.07694	N	AEFBI	0.071540	0.14246	N	-0.704532500048362	0.15894	0.8050661	-0.894210072119807	0.12230	0.6279142	1.29626801969239E-5	0.02871	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.2	-0.863	0.10129	-0.554000	0.06097	.	.	0.320000	0.19365	0.001000	0.13787	0.000000	0.08366	0.103000	0.18424	0.3687:0.0:0.4054:0.2259	2.399	0.04129	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha 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	.	.	.	.	.	.	.	.	0.02632	124.33	226	chr6	32745247	.	G	C	124.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.261;DP=1962;ExcessHet=0;FS=149.996;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.61;ReadPosRankSum=2.24;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,39:204:99:0|1:32745244_G_C:138,0,5682:32745244	18	0	1	0
chr6	33320438	33320438	A	G	exonic	DAXX	.	nonsynonymous SNV	DAXX:NM_001254717:exon3:c.T968C:p.L323P,DAXX:NM_001141969:exon4:c.T1193C:p.L398P,DAXX:NM_001141970:exon4:c.T1229C:p.L410P,DAXX:NM_001350:exon4:c.T1193C:p.L398P	.	422	1093	7	0	0	7	0.00319197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0170306294313	.	.	0.0002	0.0002	0	0	0	0	0	0.0012	0.0001423	22	154602	rs748061004	9.92e-05	9.919e-05	2.995e-05	0.0002	0.0016	8.579e-05	8.048e-05	0.0014	0.0013	0	0	0	0	0	0.0002	0	8.28e-05	0.0016	7.881e-05	7.874e-05	2.57e-05	0.0001	0.0025	4.495e-05	3.511e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.047	0.45393	D	0.273	0.22154	T	0.917	0.50750	P	0.666	0.52990	P	0.172257	0.17341	N	0.526348	0.999233	0.22281	N	2.015	0.55033	M	.	.	.	-0.7	0.23590	N	0.22	0.27077	-1.0688	0.09679	T	0.066	0.27330	T	9	0.022503704	0.00564	T	0.017031	0.38558	T	0.112	0.31546	0.568	0.69034	0.348910101417	0.34498	0.18455198128968106	0.18373	0.575530254115	0.53546	0.468195021152	0.34432	T	0.169661	0.51712	T	-0.343212	0.05169	T	-0.295856	0.45159	T	0.0452869766068372	0.04653	T	.	.	.	0.26742703	0.49815	0.24692124	0.50212	0.26742703	0.49814	0.24692124	0.50211	-3.238	0.16784	T	.	.	0.093	0.23848	B	.;.;.;.	.;.;.;.	2.943886	0.39146	20.9	0.98958304362728	0.49285	0.17608	0.19910	N	ALL	0.108402	0.21566	N	-0.102456968997665	0.37285	2.167064	-0.132144322526288	0.34103	1.957951	0.999999999997341	0.74766	0.730579	0.87903	0	0.581341	0.33841	0	0.696144	0.63334	0	0.648885	0.59868	0	.	.	4.56	2.08	0.26079	0.627000	0.24200	3.291000	0.37306	0.727000	0.85467	0.157000	0.23755	0.988000	0.31051	0.741000	0.35472	0.7359:0.0:0.0951:0.1689	4.655	0.11996	583	0.69484	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000545	0.000000	0.000000	0.005319	0.000000	0.000000	0.000000	0.000000	0.05263	2596.83	35	chr6	33320438	.	A	G	2596.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.374;DP=857;ExcessHet=0.119;FS=3.112;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=1.24;SOR=0.516	GT:AD:DP:GQ:PL	0/1:54,55:109:99:1312,0,1322	17	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3929	1348.65	63	chr6	34528878	.	G	C	1348.65	.	AC=11;AF=0.393;AN=28;BaseQRankSum=-0.071;DP=1240;ExcessHet=8.9063;FS=128.695;InbreedingCoeff=-0.5447;MLEAC=13;MLEAF=0.464;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=0.798;SOR=10.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:30,14:45:99:.:.:212,0,744:.	3	0	11	5
chr6	35233280	35233280	A	G	exonic	SCUBE3	.	nonsynonymous SNV	SCUBE3:NM_001303136:exon6:c.A688G:p.T230A,SCUBE3:NM_152753:exon6:c.A691G:p.T231A	.	431	1027	60	4	0	68	0.0320452	.	.	.	722010	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.166	.	0.0068	0.0091853	0.0090	0.0013	0.0065	0.0095	0.0033	0.0101	0.0113	0.0132	0.0085833	1327	154602	rs79753406	0.0092	0.0092	0.0090	0.0094	0.0347	0.0091	0.0090	0.0331	0.0325	0.0017	0.0074	0.0135	0.0347	0.0039	0.0294	0.0083	0.0094	0.0132	0.0072	0.0072	0.0069	0.0075	0.0143	0.0069	0.0067	0.0116	0.0107	0.0018	0.0011	0.0104	0.0104	0.0143	0.0034	0.0240	0.0092	0.0143	0.0105	0.373	0.11442	T	0.43	0.13713	T	0.083	0.24734	B	0.05	0.25278	B	0.000103	0.50451	D	0.133022	0.911284	0.27501	N	0.21	0.09513	N	-3.67	0.95247	D	-0.97	0.25770	N	0.23	0.25867	-0.6791	0.61414	T	0.307	0.67768	T	10	0.010085374	0.00226	T	.	.	.	0.166	0.42578	.	.	0.805243615292	0.80342	0.4329722714988088	0.43214	0.771633514388	0.64795	0.544402062893	0.45068	T	0.063282	0.32135	T	-0.369348	0.03627	T	-0.292288	0.45535	T	0.0198556633531013	0.00687	T	0.50295	0.15803	T	0.09223358	0.21633	0.088297546	0.20580	0.09223358	0.21633	0.088297546	0.20580	-3.328	0.14100	T	.	.	0.055	0.00412	B	.	.	2.792315	0.36707	20.3	0.94186847558303533	0.24411	0.84137	0.43221	D	AEFBI	0.410819	0.48154	N	-0.500490880925575	0.22065	1.175561	-0.282590628222039	0.28670	1.600411	0.983709014879107	0.30601	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.58	4.58	0.56077	1.627000	0.36661	4.166000	0.42242	0.754000	0.88378	0.963000	0.33788	0.997000	0.33255	0.981000	0.58702	0.6772:0.0:0.0:0.3228	8.145	0.30267	248	0.90287	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	0.022681	0.035714	0.024457	0.026316	0.000000	0.017241	0.012195	0.030303	0.05263	3998.83	35	chr6	35233280	.	A	G	3998.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.647;DP=1012;ExcessHet=0.119;FS=0.373;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=0.192;SOR=0.722	GT:AD:DP:GQ:PL	0/1:103,75:178:99:1839,0,2773	17	0	2	0
chr6	36743740	36743740	G	A	exonic	CPNE5	.	nonsynonymous SNV	CPNE5:NM_001376894:exon9:c.C782T:p.T261M	.	429	1079	14	0	0	14	0.00644567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	.	0.0004	0.0002	8.64e-05	0	0	0.0006	0.0011	0.0003	0.0003622	56	154602	rs149761685	0.0004	0.0004	0.0004	0.0004	0.0111	0.0004	0.0004	0.0089	0.0081	0.0002	0.0004	0.0006	0	5.792e-05	0.0111	0.0004	0.0007	0.0004	0.0005	0.0005	0.0006	0.0005	0.0005	0.0004	0.0004	0.0004	0.0003	0.0001	0.0318	0.0005	0.0012	0	0	0.0068	0.0005	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.005051	0.006793	0.020468	0.000000	0.034483	0.009146	0.007576	0.02632	1152.33	46	chr6	36743740	.	G	A	1152.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=900;ExcessHet=0;FS=0.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.106;SOR=0.82	GT:AD:DP:GQ:PL	0/1:58,45:103:99:1166,0,1382	18	0	1	0
chr6	41740500	41740500	C	T	exonic	PGC	.	nonsynonymous SNV	PGC:NM_002630:exon6:c.G758A:p.G253D	.	417	1080	24	1	0	26	0.0118939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	0.0021	0.00139776	0.0029	0.0004	0.0010	0.0001	0	0.0022	0.0146	0.0112	0.0024967	386	154602	rs146769097	0.0019	0.0019	0.0015	0.0022	0.0105	0.0018	0.0018	0.0099	0.0097	0.0001	0.0007	0.0081	5.078e-05	0	0.0068	0.0013	0.0026	0.0105	0.0014	0.0014	0.0013	0.0014	0.0068	0.0012	0.0012	0.0050	0.0044	0.0003	0	0.0012	0.0095	0	0	0.0034	0.0016	0.0024	0.0068	0.067	0.35918	T	0.61	0.07691	T	0.995	0.67487	D	0.887	0.62952	P	0.156595	0.17795	N	0.572523	1	0.08975	N	0.77	0.19370	N	0.44	0.56609	T	-1.77	0.41809	N	0.297	0.33578	-0.9958	0.31082	T	0.100	0.37290	T	10	0.008054823	0.00183	T	.	.	.	0.181	0.45247	.	.	0.468003879618	0.46428	0.612523108828657	0.61184	0.202384851127	0.22661	0.36427628994	0.20007	T	0.032225	0.22391	T	-0.478077	0.00759	T	-0.451539	0.27528	T	0.0154015321060609	0.00344	T	0.657934	0.26722	T	0.11558035	0.27272	0.12309866	0.29686	0.11558035	0.27272	0.12309866	0.29686	-7.998	0.61057	D	.	.	0.226	0.45750	B	.	.	1.557426	0.19955	14.52	0.98829675087421176	0.46936	0.10204	0.15775	N	AEFBCI	0.122361	0.23747	N	-0.656866268285708	0.17260	0.8866704	-0.79779014470838	0.14549	0.7607732	0.999771066895117	0.42865	0.487112	0.14033	0	0.563428	0.19063	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	5.08	2.17	0.26736	-0.307000	0.08206	-0.457000	0.09062	-0.924000	0.02182	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.4442:0.4811:0.0746	10.399	0.43404	579	0.69780	Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.007576	0.02632	2106.33	33	chr6	41740500	.	C	T	2106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.175;DP=868;ExcessHet=0;FS=3.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=0.749;SOR=0.951	GT:AD:DP:GQ:PL	0/1:138,92:230:99:2120,0,3513	18	0	1	0
chr6	56618125	56618125	A	G	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon23:c.T5909C:p.F1970S	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	1	1496	25	0	0	25	0.00828638	.	.	.	308288	Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.172	.	0.0029	0.00299521	0.0048	0.0005	0.0014	0	0.0024	0.0056	0.0044	0.0103	0.0045278	700	154602	rs141573097	0.0045	0.0045	0.0043	0.0047	0.0108	0.0044	0.0044	0.0102	0.0100	0.0006	0.0010	0.0007	2.519e-05	0.0034	0.0076	0.0046	0.0037	0.0108	0.0030	0.0030	0.0032	0.0028	0.0120	0.0028	0.0027	0.0096	0.0087	0.0007	0	0.0007	0.0009	0	0.0021	0.0034	0.0049	0.0019	0.0120	0.13	0.26740	T	0.407	0.14679	T	0.99	0.63424	D	0.858	0.61127	P	.	.	.	.	.	.	.	.	.	.	1.39	0.33842	T	-0.17	0.09627	N	0.679	0.68603	-1.0615	0.11385	T	0.086	0.33298	T	7	0.009896845	0.00222	T	.	.	.	0.172	0.43662	.	.	0.547936802839	0.54449	.	.	.	.	.	.	.	.	.	.	-0.479882	0.00740	T	-0.452698	0.27398	T	0.0369915285635896	0.03154	T	0.586841	0.21439	T	.	.	.	.	.	.	.	.	-2.129	0.03710	T	.	.	0.691	0.72581	P	.	.	3.190999	0.43354	21.7	0.99826548449264196	0.90852	0.95429	0.64685	D	AEFDBHCI	0.866895	0.78646	D	0.499655924641192	0.67070	5.032908	0.534680830707506	0.70339	5.490656	0.999999938283919	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.596874	0.31795	0	0.755437	0.99637	0	.	.	5.49	5.49	0.81022	4.382000	0.59360	11.261000	0.91078	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.586	0.76226	299	0.88026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.005051	0.006793	0.020468	0.000000	0.008621	0.009146	0.003788	0.02632	1942.33	33	chr6	56618125	.	A	G	1942.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.883;DP=1436;ExcessHet=0;FS=1.197;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.024;SOR=0.587	GT:AD:DP:GQ:PL	0/1:87,82:169:99:1956,0,2271	18	0	1	0
chr6	65304106	65304106	G	C	exonic	LOC441155	.	nonsynonymous SNV	LOC441155:NM_001271675:exon2:c.G1585C:p.V529L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.744e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	42.53	34	chr6	65304106	.	G	C	42.53	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.457;DP=1303;ExcessHet=0;FS=80.407;InbreedingCoeff=-0.0382;MLEAC=1;MLEAF=0.026;MQ=34.9;MQRankSum=1.29;QD=0.38;ReadPosRankSum=-0.119;SOR=6.932	GT:AD:DP:GQ:PL	0/1:82,31:113:56:56,0,1468	18	0	1	0
chr6	85572372	85572372	C	A	exonic;splicing	SNX14;SNX14	NM_001350543:exon3:c.106-1G>T;NM_001350537:exon3:c.262-1G>T;NM_001350533:exon3:c.262-1G>T;NM_001350535:exon3:c.262-1G>T;NM_001350539:exon3:c.106-1G>T;NM_001350534:exon3:c.262-1G>T	nonsynonymous SNV	SNX14:NM_001297614:exon3:c.G264T:p.Q88H,SNX14:NM_001304479:exon3:c.G108T:p.Q36H,SNX14:NM_001350536:exon3:c.G264T:p.Q88H,SNX14:NM_001350538:exon3:c.G264T:p.Q88H,SNX14:NM_001350540:exon3:c.G264T:p.Q88H,SNX14:NM_001350541:exon3:c.G264T:p.Q88H,SNX14:NM_001350542:exon3:c.G108T:p.Q36H,SNX14:NM_001350544:exon3:c.G108T:p.Q36H,SNX14:NM_020468:exon3:c.G264T:p.Q88H,SNX14:NM_153816:exon3:c.G264T:p.Q88H,SNX14:NM_001350532:exon4:c.G327T:p.Q109H	.	435	1073	11	3	0	17	0.00785945	.	.	.	722166	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.105	.	0.0023	0.00419329	0.0035	0.0005	0.0008	0	0.0005	0.0027	0.0022	0.0137	0.003454	534	154602	rs113111730	0.0038	0.0038	0.0034	0.0042	0.0133	0.0037	0.0037	0.0127	0.0124	0.0006	0.0005	3.841e-05	0	0.0011	0.0033	0.0036	0.0036	0.0133	0.0023	0.0023	0.0023	0.0023	0.0128	0.0021	0.0020	0.0103	0.0094	0.0006	0	0.0007	0	0	0.0007	0	0.0036	0.0005	0.0128	0.124	0.91255	T	0.138	0.66756	T	0.0	0.02946	B	0.001	0.06944	B	0.000913	0.41128	D	0.249576	0.820921	0.36417	D	1.59	0.40313	L	1.79	0.25509	T	-1.13	0.45042	N	0.314	0.39052	-1.0128	0.26038	T	0.012	0.04558	T	10	0.004627049	0.00115	T	.	.	.	0.105	0.29889	0.174	0.08014	0.190952846119	0.18690	0.5103356433509191	0.50955	0.246411805978	0.27178	0.570708274841	0.48777	T	0.02301	0.32983	T	-0.548533	0.00298	T	-0.54903	0.17418	T	0.00756468879931535	0.00088	T	0.828517	0.49290	T	0.034969274	0.04029	0.04319166	0.05317	0.038538292	0.05153	0.036629345	0.03148	-3.483	0.18248	T	0.2720765865937368	0.36586	0.109	0.34071	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.078615	0.26438	17.12	0.74036028627606099	0.10546	0.13527	0.17907	N	AEFBI	0.110712	0.21945	N	-0.816094770836041	0.12899	0.6318107	-0.745995959004667	0.15820	0.83395	0.83903065159484	0.24832	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.53	-1.8	0.07480	-0.490000	0.06562	-0.180000	0.11141	0.549000	0.26987	0.094000	0.22667	0.384000	0.24630	0.992000	0.67800	0.0948:0.3949:0.0936:0.4167	4.099	0.09477	712	0.56465	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.022727	0.02632	856.33	33	chr6	85572372	.	C	A	856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.727;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.356;SOR=0.765	GT:AD:DP:GQ:PL	0/1:51,35:86:99:870,0,1321	18	0	1	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	996.02	46	chr6	87418396	.	G	C	996.02	.	AC=9;AF=0.3;AN=30;BaseQRankSum=-1.179;DP=1225;ExcessHet=5.3738;FS=245.846;InbreedingCoeff=-0.41;MLEAC=10;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=1.97;SOR=11.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,23:70:70:.:.:70,0,627:.	6	0	9	4
chr6	89201251	89201251	C	T	exonic	GABRR1	.	nonsynonymous SNV	GABRR1:NM_001256703:exon2:c.G137A:p.R46Q,GABRR1:NM_002042:exon3:c.G188A:p.R63Q	.	411	1103	7	1	0	9	0.00406321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.0991215686085	0.0005	0.00119808	0.0006	9.61e-05	0	0	0	0.0002	0	0.0033	0.0005369	83	154602	rs146686910	0.0003	0.0003	0.0002	0.0003	0.0033	0.0003	0.0002	0.0024	0.0022	0	4.472e-05	0	5.038e-05	1.872e-05	0.0033	0.0001	0.0004	0.0026	0.0002	0.0002	0.0002	0.0003	0.0031	0.0002	0.0002	0.0019	0.0015	0.0001	0	6.535e-05	0	0	0	0	0.0002	0.0005	0.0031	0.049	0.45039	D	0.108	0.38305	T	0.343	0.33512	B	0.034	0.22741	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.905	0.50856	L	-1.41	0.81235	T	-0.52	0.16187	N	0.387	0.44952	-0.7129	0.59810	T	0.226	0.59007	T	9	0.008397967	0.00190	T	0.099122	0.77055	D	0.358	0.67872	.	.	0.882881467586	0.88173	0.544791983429149	0.54405	0.390474098581	0.40258	0.535864591599	0.43862	T	0.044673	0.26888	T	-0.137643	0.30264	T	0.0252048	0.71966	D	0.0791536852860436	0.09877	T	0.940606	0.77652	D	0.21910615	0.44435	0.21415694	0.45955	0.21910615	0.44434	0.21415694	0.45954	-3.922	0.24370	T	.	.	0.139	0.30502	B	.;.	.;.	3.660424	0.51996	23.2	0.99895651120305862	0.96895	0.95930	0.66770	D	AEFDI	0.754596	0.69442	D	0.102063328607325	0.46557	2.894403	0.290237437716933	0.54969	3.660478	0.999999999592019	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.77	5.77	0.91077	3.852000	0.55642	1.384000	0.26059	0.599000	0.40250	1.000000	0.71638	0.930000	0.28522	0.998000	0.85391	0.0:1.0:0.0:0.0	19.998	0.97395	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1914.33	34	chr6	89201251	.	C	T	1914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.881;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.399;SOR=0.742	GT:AD:DP:GQ:PL	0/1:65,76:141:99:1928,0,1437	18	0	1	0
chr6	98905596	98905596	G	C	exonic	FBXL4	.	nonsynonymous SNV	FBXL4:NM_012160:exon5:c.C933G:p.S311R,FBXL4:NM_001278716:exon6:c.C933G:p.S311R	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	431215	Mitochondrial_DNA_depletion_syndrome_13	MONDO:MONDO:0014198,MedGen:C3809592,OMIM:615471,Orphanet:369897	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0098791098875	.	.	3.3e-05	9.615e-05	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs778207313	4.789e-06	4.788e-06	4.084e-06	5.501e-06	8.116e-05	1.99e-06	1.28e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	0	0	8.116e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.15149	T	0.297	0.20551	T	0.005	0.12996	B	0.091	0.29943	B	0.002049	0.37364	N	0.346611	0.902101	0.27680	N	-0.61	0.02200	N	0.97	0.42502	T	-0.23	0.10656	N	0.441	0.47949	-0.9705	0.37094	T	0.015	0.06090	T	10	0.22981733	0.39918	T	0.009879	0.25743	T	0.059	0.16972	0.636	0.77251	0.455448229734	0.45171	0.48239128119452596	0.48159	0.0719830884204	0.08067	0.302910923958	0.10836	T	0.027272	0.20009	T	-0.236942	0.15742	T	-0.481273	0.24311	T	0.291244236129326	0.24641	T	0.79582	0.43907	T	0.08321806	0.19207	0.070602134	0.15022	0.08321806	0.19207	0.070602134	0.15021	-2.095	0.03562	T	0.05622221443371707	0.01294	0.196	0.41738	B	.;.	.;.	2.260744	0.28888	17.94	0.98444753417689801	0.41553	0.86405	0.45679	D	AEFDBCIJ	0.445234	0.50179	N	-0.419255822323602	0.24795	1.341317	-0.177864690575929	0.32351	1.839748	0.0274520520520445	0.13774	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.64	3.86	0.43689	3.637000	0.54065	4.509000	0.43640	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.3181:0.0:0.6819:0.0	7.046	0.24223	821	0.40814	F-box domain|F-box domain;F-box domain|F-box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2514.33	40	chr6	98905596	.	G	C	2514.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.311;DP=872;ExcessHet=0;FS=7.105;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.281;SOR=1.111	GT:AD:DP:GQ:PL	0/1:91,103:194:99:2528,0,2188	18	0	1	0
chr6	108953151	108953151	C	T	exonic	ARMC2	.	nonsynonymous SNV	ARMC2:NM_001286609:exon12:c.C1220T:p.T407M,ARMC2:NM_032131:exon13:c.C1715T:p.T572M	.	430	1091	1	0	0	1	0.000458085	.	.	.	3290185	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.109	0.00900435170622	7.7e-05	.	1.659e-05	0	0	0	0	3.016e-05	0	0	1.94e-05	3	154602	rs371652575	6.226e-05	6.225e-05	6.126e-05	6.326e-05	0.0005	5.162e-05	4.781e-05	0.0001	7.541e-05	2.987e-05	0	0	0	0	0.0005	7.735e-05	1.656e-05	0	2.627e-05	2.626e-05	2.568e-05	2.689e-05	5.878e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.878e-05	0	0	0.008	0.58626	D	0.016	0.60972	D	0.95	0.53885	P	0.636	0.51948	P	0.157016	0.17782	N	0.633514	1	0.08975	N	2.39	0.68882	M	1.42	0.33189	T	-1.35	0.33598	N	0.244	0.27554	-1.0403	0.17223	T	0.044	0.18906	T	10	0.14612544	0.27708	T	0.009004	0.23702	T	0.109	0.30843	.	.	0.478905595755	0.47518	0.17456035215068993	0.17375	0.192524880613	0.21581	0.282676875591	0.07868	T	0.069724	0.33781	T	-0.28172	0.10487	T	-0.53479	0.18812	T	0.169615626335144	0.18554	T	0.670133	0.28956	T	0.016980413	0.00236	0.03419769	0.02445	0.016980413	0.00236	0.03419769	0.02445	-6.76	0.58171	T	.	.	0.091	0.13268	B	.;.	.;.	2.184612	0.27852	17.60	0.9967139657743832	0.78587	0.06338	0.12336	N	AEFDBI	0.063979	0.12397	N	-0.26209867198314	0.30622	1.709257	-0.450024965045827	0.23548	1.284742	0.851187823047762	0.25047	0.553676	0.25195	0	0.563428	0.19063	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.81	2.3	0.27735	0.006000	0.13051	0.426000	0.18273	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2591:0.4309:0.1255:0.1845	1.621	0.02549	689	0.59000	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2261.33	33	chr6	108953151	.	C	T	2261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=803;ExcessHet=0;FS=1.936;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.761;SOR=0.533	GT:AD:DP:GQ:PL	0/1:82,85:167:99:2275,0,1959	18	0	1	0
chr6	112155660	112155660	C	T	exonic	LAMA4	.	nonsynonymous SNV	LAMA4:NM_001105206:exon15:c.G1864A:p.D622N,LAMA4:NM_001105207:exon15:c.G1843A:p.D615N,LAMA4:NM_002290:exon15:c.G1843A:p.D615N	Cardiomyopathy, dilated, 1JJ, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00276626894006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.126e-06	4.637e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.09866	T	0.722	0.05309	T	.	.	.	.	.	.	0.000166	0.48594	D	0.243129	0.679921	0.30288	N	.	.	.	2.64	0.12884	T	-2.46	0.53736	N	0.169	0.28264	-0.9518	0.40660	T	0.009	0.03359	T	10	0.12400848	0.23549	T	0.002766	0.05723	T	0.053	0.14996	0.379	0.39482	0.281381271821	0.27740	0.21207141063563983	0.21123	0.117325289946	0.13220	0.584312260151	0.50693	T	0.030531	0.21771	T	-0.352323	0.04582	T	-0.64701	0.09164	T	0.370287925004959	0.27808	T	0.815518	0.47040	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.23605	B	.;.;.;.	.;.;.;.	2.578267	0.33423	19.34	0.97673678972802747	0.35270	0.52528	0.29153	D	AEFGBCI	0.306334	0.41351	N	-0.173899033721635	0.34225	1.950878	0.0584392901630624	0.42481	2.570238	0.999999819587559	0.74766	0.730579	0.87903	0	0.59043	0.45803	0	0.602189	0.34648	0	0.648885	0.59868	0	.	.	5.42	5.42	0.78666	2.999000	0.49161	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9112:0.0:0.0888	10.034	0.41291	762	0.50290	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1510.33	37	chr6	112155660	.	C	T	1510.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.48;DP=763;ExcessHet=0;FS=5.067;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.463;SOR=1.099	GT:AD:DP:GQ:PL	0/1:80,62:142:99:1524,0,2082	18	0	1	0
chr6	116927515	116927515	A	G	exonic	RFX6	.	nonsynonymous SNV	RFX6:NM_173560:exon17:c.A2374G:p.T792A	Mitchell-Riley syndrome, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00783669002584	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210032442	6.158e-06	6.156e-06	4.085e-06	8.252e-06	0.0002	2.9e-06	2.1e-06	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	1.799e-06	3.312e-05	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.28646	T	0.137	0.33894	T	0.0	0.02946	B	0.0	0.01387	B	0.558399	0.05410	N	1.211670	0.992986	0.23791	N	0.755	0.19153	N	0.59	0.53943	T	-0.86	0.23372	N	0.049	0.02088	-1.0220	0.23063	T	0.032	0.13898	T	10	0.029738873	0.01100	T	0.007837	0.20798	T	0.046	0.12618	0.214	0.13354	0.0611884634855	0.05136	0.274707762811999	0.27383	0.0536063147559	0.05918	0.302188009024	0.10727	T	0.13867	0.47229	T	-0.298304	0.08821	T	-0.66627	0.07850	T	0.0106487342791685	0.00149	T	0.448455	0.12604	T	0.046236344	0.07704	0.04930894	0.07507	0.046236344	0.07704	0.04930894	0.07507	-2.915	0.09294	T	.	.	0.060	0.00890	B	.	.	-0.178203	0.03203	0.531	0.77175002357645772	0.11767	0.06014	0.11979	N	AEFBHI	0.078488	0.15837	N	-1.17963065022095	0.05308	0.2416867	-1.16027764242653	0.06585	0.3174695	0.00253478044811312	0.09511	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.17	-1.98	0.07070	-0.406000	0.07249	0.655000	0.20452	-0.104000	0.15758	0.000000	0.06391	0.000000	0.08366	0.426000	0.27362	0.3296:0.0:0.2408:0.4295	4.882	0.13044	381	0.83684	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	706.33	31	chr6	116927515	.	A	G	706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.28;DP=708;ExcessHet=0;FS=4.643;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.403;SOR=2.252	GT:AD:DP:GQ:PL	0/1:21,21:42:99:720,0,629	18	0	1	0
chr6	127447573	127447573	G	A	exonic	KIAA0408	.	nonsynonymous SNV	KIAA0408:NM_014702:exon5:c.C746T:p.T249M	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00727998706539	0.0008	0.00119808	0.0003	0.0016	0.0004	0	0.0002	0.0002	0	6.081e-05	0.0002781	43	154602	rs146595636	0.0002	0.0002	0.0002	0.0002	0.0029	0.0002	0.0002	0.0024	0.0023	0.0029	0.0007	0.0013	0	0	0.0005	7.021e-05	0.0004	7.03e-05	0.0007	0.0007	0.0008	0.0006	0.0022	0.0006	0.0006	0.0018	0.0017	0.0022	0	0.0005	0.0009	0	9.468e-05	0	8.829e-05	0.0014	0	0.217	0.19157	T	0.16	0.31427	T	0.0	0.02946	B	0.001	0.04355	B	0.013853	0.01375	N	6.349410	1	0.08975	N	-0.95	0.01262	N	1.5	0.31205	T	0.03	0.06612	N	0.05	0.02179	-1.0146	0.25464	T	0.009	0.03227	T	10	0.004981756	0.00107	T	0.00728	0.19307	T	0.093	0.26882	.	.	0.0846915920261	0.08053	0.13329917933172641	0.13253	0.0548166444233	0.06069	0.191293433309	0.00248	T	0.008551	0.07843	T	-0.671359	0.00054	T	-0.743304	0.03752	T	0.00451062101475603	0.00048	T	0.264674	0.04299	T	0.011644326	0.00020	0.020970143	0.00166	0.011644326	0.00020	0.020970143	0.00166	-4.35	0.28872	T	.	.	0.060	0.00949	B	.	.	-0.784086	0.01139	0.053	0.67355340474055458	0.08330	0.01810	0.05639	N	AEFBI	.	.	.	-1.3257398851145	0.03383	0.1510407	-1.29206190513524	0.04537	0.2142354	0.00456227411996216	0.10618	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.530356	0.10902	0	.	.	5.36	-0.614	0.11009	-0.071000	0.11465	0.248000	0.16392	-1.442000	0.01103	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.2965:0.1534:0.2121:0.3379	0.131	0.00068	619	0.66147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000518	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1421.33	37	chr6	127447573	.	G	A	1421.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.885;DP=891;ExcessHet=0;FS=11.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-2.436;SOR=1.202	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1435,0,1200	18	0	1	0
chr6	131877112	131877112	C	G	exonic	ENPP1	.	nonsynonymous SNV	ENPP1:NM_006208:exon18:c.C1844G:p.P615R	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.0388138269293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.31088	T	0.359	0.17014	T	0.378	0.34287	B	0.127	0.32738	B	0.029349	0.25467	N	0.449086	0.706215	0.30057	N	2.095	0.58118	M	-0.72	0.72994	T	-4.23	0.75935	D	0.591	0.61087	-0.7106	0.59923	T	0.264	0.63512	T	10	0.5348557	0.63389	D	0.038814	0.58447	D	0.347	0.66863	0.563	0.68364	0.802661295271	0.80082	0.5772090811819833	0.57649	0.503732087733	0.48681	0.32420194149	0.14057	T	0.741389	0.92840	D	0.0283268	0.55499	T	-0.197087	0.54922	T	0.918726444244385	0.57711	D	0.607939	0.22935	T	0.12677595	0.29684	0.14778535	0.34960	0.12677595	0.29684	0.14778535	0.34959	-10.31	0.75746	D	0.3173486256967082	0.41541	0.095	0.15115	B	.;.	.;.	3.009276	0.40238	21.1	0.96787395035097656	0.31098	0.76083	0.37289	D	AEFBI	0.575472	0.57785	D	0.0593019530347066	0.44572	2.728761	0.0590438520433336	0.42510	2.572513	0.754529619720516	0.23412	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.61	4.69	0.58546	3.331000	0.51790	4.804000	0.44991	0.599000	0.40250	0.188000	0.24163	0.984000	0.30665	0.109000	0.18697	0.1435:0.8564:0.0:0.0	14.959	0.70788	828	0.39726	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1056.33	33	chr6	131877112	.	C	G	1056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.663;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=-1.765;SOR=0.66	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1070,0,1168	18	0	1	0
chr6	138432919	138432919	C	T	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_020464:exon5:c.G1438A:p.A480T,NHSL1:NM_001144060:exon6:c.G1426A:p.A476T	.	427	1058	36	1	0	38	0.0176416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0074	0.00539137	0.0102	0.0009	0.0025	0	0.0037	0.0107	0.0083	0.0147	0.0031177	482	154602	rs150185209	0.0099	0.0094	0.0096	0.0101	0.0143	0.0097	0.0097	0.0136	0.0133	0.0021	0.0067	0.0112	2.798e-05	0.0034	0.0125	0.0104	0.0101	0.0143	0.0068	0.0068	0.0074	0.0061	0.0110	0.0064	0.0063	0.0099	0.0096	0.0019	0.0022	0.0064	0.0115	0	0.0015	0.0034	0.0105	0.0128	0.0110	0.38	0.13349	T	0.413	0.17064	T	0.0	0.02946	B	0.0	0.01387	B	0.867846	0.07157	N	1.059210	1	0.08975	N	0	0.06538	N	1.28	0.35960	T	0.15	0.05310	N	0.043	0.04913	-1.0299	0.20487	T	0.007	0.02439	T	10	0.0028977394	0.00046	T	.	.	.	0.030	0.07022	.	.	0.0138822411134	0.00435	0.0740470037905874	0.07341	.	.	0.252881109715	0.04077	T	0.003267	0.02667	T	-0.711784	0.00031	T	-0.783529	0.02348	T	0.00590756167066298	0.00065	T	0.256474	0.04006	T	0.023594005	0.01112	0.031968772	0.01862	0.023594005	0.01112	0.031968772	0.01862	-3.324	0.14537	T	.	.	0.068	0.02927	B	.;.	.;.	-1.418430	0.00347	0.006	0.76993707213963181	0.11693	0.02514	0.07011	N	AEFDBI	0.039203	0.05662	N	-2.21372838507277	0.00071	0.003053304	-2.28566539880462	0.00071	0.003139627	0.999999979122478	0.74766	0.706548	0.73137	0	0.546412	0.12157	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.88	-9.77	0.00416	-1.424000	0.02554	-2.938000	0.03211	-1.568000	0.00938	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.296:0.0896:0.2469:0.3675	1.197	0.01763	892	0.26670	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007371	0.000000	0.016949	0.004545	0.000000	0.000000	0.005882	0.034091	0.02632	1350.33	58	chr6	138432919	.	C	T	1350.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.085;DP=1308;ExcessHet=0;FS=4.747;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-1.453;SOR=0.733	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1364,0,1664	18	0	1	0
chr6	148543929	148543929	G	A	exonic	SASH1	.	nonsynonymous SNV	SASH1:NM_001346507:exon11:c.G1742A:p.R581Q,SASH1:NM_001346508:exon11:c.G2231A:p.R744Q,SASH1:NM_001346509:exon11:c.G2108A:p.R703Q,SASH1:NM_001346505:exon18:c.G2324A:p.R775Q,SASH1:NM_015278:exon18:c.G2459A:p.R820Q,SASH1:NM_001346506:exon19:c.G2087A:p.R696Q	.	418	1082	22	0	0	22	0.010064	.	.	.	710255	not_provided|Dyschromatosis_universalis_hereditaria_1|Cancer,_alopecia,_pigment_dyscrasia,_onychodystrophy,_and_keratoderma|not_specified	MedGen:C3661900|MONDO:MONDO:0024524,MedGen:C2675711,OMIM:127500|MedGen:C5193062,OMIM:618373|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.218	0.0172446337167	0.0013	0.00219649	0.0016	0.0004	0.0011	0.0001	0.0003	0.0012	0.0044	0.0053	0.0015071	233	154602	rs144633784	0.0016	0.0016	0.0015	0.0018	0.0062	0.0016	0.0015	0.0058	0.0056	0.0001	0.0015	0.0001	2.519e-05	0.0002	0.0052	0.0014	0.0018	0.0062	0.0013	0.0013	0.0012	0.0015	0.0077	0.0012	0.0011	0.0057	0.0051	0.0004	0	0.0016	0	0.0006	0.0003	0.0034	0.0017	0.0028	0.0077	0.002	0.72154	D	0.121	0.47581	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.053272	0.999772	0.48980	D	2.125	0.59049	M	0.96	0.42888	T	-1.05	0.27463	N	0.334	0.42443	-0.7446	0.58216	T	0.194	0.54782	T	10	0.0102826655	0.00229	T	0.017245	0.38871	T	0.218	0.51265	.	.	0.77987184126	0.77784	0.4749283720298943	0.47411	0.176476331138	0.19866	0.362321317196	0.19724	T	0.106191	0.41731	T	-0.228314	0.16874	T	-0.0985372	0.63511	T	0.0326058988812123	0.02405	T	0.877812	0.59215	D	0.34333792	0.56544	0.21063916	0.45459	0.32845256	0.55344	0.26970348	0.52853	-6.874	0.53107	T	0.1422885936812735	0.16079	0.089	0.29116	B	.;.	.;.	4.306935	0.65809	24.9	0.99960862353843405	0.99997	0.97960	0.78445	D	AEFBI	0.581725	0.58162	D	0.739948704742311	0.82251	7.716262	0.720014076574633	0.83901	8.144222	0.999999999995787	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	5.951000	0.69992	7.627000	0.62562	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	17.054	0.86402	957	0.09725	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.015152	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	2161.33	37	chr6	148543929	.	G	A	2161.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=792;ExcessHet=0;FS=1.887;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.452;SOR=0.551	GT:AD:DP:GQ:PL	0/1:89,82:171:99:2175,0,2227	18	0	1	0
chr6	155183335	155183335	G	A	exonic	TIAM2	.	nonsynonymous SNV	TIAM2:NM_001384547:exon13:c.G2899A:p.G967R,TIAM2:NM_001384546:exon14:c.G2899A:p.G967R,TIAM2:NM_012454:exon14:c.G2899A:p.G967R	.	436	1032	51	3	0	57	0.0268741	.	.	.	721834	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.111	.	0.0029	0.00539137	0.0056	0.0004	0.0007	0.0001	0.0002	0.0036	0.0077	0.0255	0.0051681	799	154602	rs150560357	0.0038	0.0038	0.0031	0.0045	0.0242	0.0037	0.0036	0.0233	0.0230	0.0006	0.0017	0.0154	0.0001	0.0003	0.0149	0.0023	0.0049	0.0242	0.0025	0.0025	0.0023	0.0028	0.0199	0.0023	0.0023	0.0167	0.0155	0.0004	0	0.0022	0.0127	0.0002	0.0002	0.0204	0.0026	0.0038	0.0199	0.116	0.31088	T	0.539	0.10173	T	0.026	0.20732	B	0.011	0.19653	B	0.065058	0.21909	N	0.500214	1	0.08975	N	0.69	0.16971	N	1.2	0.37405	T	-1.78	0.42957	N	0.196	0.24260	-1.0216	0.23195	T	0.012	0.04700	T	10	0.0063183606	0.00143	T	.	.	.	0.111	0.31313	0.552	0.66856	0.190952846119	0.18690	0.6469867475551525	0.64633	0.263161145302	0.28869	0.396466434002	0.24577	T	0.029083	0.20920	T	-0.475935	0.00782	T	-0.4375	0.29089	T	0.0139145377650393	0.00266	T	0.673133	0.29067	T	0.12168373	0.28610	0.10275124	0.24636	0.12168373	0.28610	0.10275124	0.24635	-8.994	0.67659	D	.	.	0.143	0.35288	B	.;.;.;.;.;.	.;.;.;.;.;.	2.318200	0.29679	18.20	0.9785813049849762	0.36445	0.12320	0.17196	N	ALL	0.091712	0.18575	N	-0.651287987956593	0.17423	0.8964142	-0.546228900401239	0.20905	1.128492	0.999999875409692	0.74766	0.566229	0.32551	0	0.093493	0.02558	3	0.658983	0.55881	0	0.674467	0.66132	0	.	.	5.48	1.97	0.25278	2.769000	0.47338	7.249000	0.57924	0.676000	0.76740	0.096000	0.22710	1.000000	0.68203	0.916000	0.45140	0.1669:0.2426:0.3435:0.247	0.810	0.01021	752	0.51611	PDZ domain|PDZ domain;PDZ domain|PDZ domain;.;.;.;PDZ domain|PDZ 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	0.017623	0.000000	0.009511	0.029240	0.000000	0.008621	0.024390	0.030303	0.02632	1532.33	35	chr6	155183335	.	G	A	1532.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.8;DP=754;ExcessHet=0;FS=2.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.877;SOR=0.955	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1546,0,1560	18	0	1	0
chr6	160139798	160139798	A	G	exonic	SLC22A1	.	nonsynonymous SNV	SLC22A1:NM_003057:exon7:c.A1207G:p.I403V,SLC22A1:NM_153187:exon7:c.A1207G:p.I403V	.	419	1095	8	0	0	8	0.00363967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	.	.	0.00499201	0.0030	0	8.643e-05	0	0	0.0001	0	0.0220	0.0026778	414	154602	rs188898744	0.0013	0.0014	0.0008	0.0019	0.0208	0.0013	0.0013	0.0200	0.0196	0	0.0002	0	0	1.878e-05	0.0023	8.492e-05	0.0012	0.0208	0.0008	0.0008	0.0004	0.0013	0.0237	0.0007	0.0007	0.0201	0.0188	2.41e-05	0	0.0001	0	0.0002	0	0	8.822e-05	0.0009	0.0237	0.191	0.29288	T	0.033	0.53072	D	0.001	0.11197	B	0.008	0.19048	B	0.020525	0.27020	N	0.408418	0.959119	0.26198	N	1.74	0.45129	L	-0.79	0.73739	T	-0.2	0.10136	N	0.146	0.15328	-0.9235	0.45070	T	0.135	0.44875	T	10	0.00610435	0.00137	T	.	.	.	0.110	0.31079	.	.	0.18274738541	0.17906	0.19491478112056174	0.19409	0.112006413373	0.12634	0.269620478153	0.06091	T	0.125552	0.45134	T	-0.499311	0.00577	T	-0.473746	0.25114	T	0.0218250349772305	0.00889	T	0.670533	0.27914	T	0.021282468	0.00722	0.04084549	0.04509	0.021282468	0.00722	0.04084549	0.04509	-4.049	0.24534	T	.	.	0.115	0.23465	B	.;.;.;.	.;.;.;.	0.627846	0.09964	6.719	0.73112172632511141	0.10211	0.33331	0.24802	N	AEFDBCI	0.886012	0.81703	D	-0.996703477929731	0.08673	0.4075935	-1.01720211331761	0.09407	0.4678425	0.999999739744348	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.08	-0.752	0.10514	1.525000	0.35560	-0.135000	0.11577	-0.145000	0.12313	0.054000	0.21560	0.000000	0.08366	0.003000	0.05239	0.5589:0.3502:0.091:0.0	11.101	0.47393	529	0.73716	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.015152	0.05263	2054.83	44	chr6	160139798	.	A	G	2054.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.2;DP=1025;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-1.011;SOR=0.676	GT:AD:DP:GQ:PL	0/1:44,36:80:99:861,0,1670	17	0	2	0
chr6	160594111	160594111	G	A	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon22:c.C3476T:p.T1159M	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.012638248412	8.1e-05	0.000399361	0.0004	0.0001	0	0.0026	0	8.997e-05	0.0011	0.0008	0.0003105	48	154602	rs187364344	0.0002	0.0002	0.0002	0.0002	0.0035	0.0002	0.0002	0.0031	0.0029	5.98e-05	2.236e-05	0.0010	0.0035	0	0	2.968e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0003	0.0019	0.0002	0.0002	0.0010	0.0008	0.0002	0	0.0002	0.0009	0.0019	0	0.0034	4.411e-05	0.0005	0.0015	0.012	0.54683	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.01	0.62459	T	-0.38	0.13418	N	0.181	0.19593	-1.0151	0.25304	T	0.133	0.44564	T	9	0.009816796	0.00220	T	0.012638	0.31390	T	0.078	0.22779	.	.	0.134241683229	0.13084	0.33418320813489155	0.33331	0.274628364558	0.29955	0.314181536436	0.12540	T	.	.	.	-0.476656	0.00774	T	-0.463318	0.26239	T	0.0342500900458331	0.02681	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40683	B	.;.	.;.	2.964258	0.39484	21.0	0.97861238126302519	0.36465	0.02520	0.07022	N	AEFI	0.056677	0.10498	N	-0.684194803548846	0.16471	0.8395313	-0.918250851814017	0.11664	0.5955951	1.69655172839829E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.56	0.503	0.16145	0.901000	0.28075	3.653000	0.39383	0.347000	0.19874	0.001000	0.13787	0.999000	0.35428	0.001000	0.02609	0.0:0.2374:0.5196:0.243	4.880	0.13033	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2383.33	41	chr6	160594111	.	G	A	2383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.836;DP=835;ExcessHet=0;FS=1.705;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=2.43;SOR=0.573	GT:AD:DP:GQ:PL	0/1:111,95:206:99:2397,0,2743	18	0	1	0
chr6	168308990	168308990	G	A	exonic	DACT2	.	nonsynonymous SNV	DACT2:NM_001286350:exon3:c.C257T:p.P86L,DACT2:NM_214462:exon4:c.C767T:p.P256L	.	385	1135	2	0	0	2	0.000880282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00625318443322	.	0.000199681	0.0002	0	0	0	0	0	0.0062	0.0003	2.59e-05	4	154602	rs557143737	2.72e-05	2.873e-05	1.13e-05	4.354e-05	0.0004	2.022e-05	1.771e-05	0.0003	0.0002	0	8.406e-05	0	5.596e-05	0	0	1.854e-06	0	0.0004	3.282e-05	3.281e-05	0	6.712e-05	0.0004	1.26e-05	7.97e-06	7.287e-05	3.028e-05	0	0	6.532e-05	0	0	0	0	2.94e-05	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.001	0.04355	B	0.104520	0.19700	N	0.464657	0.999909	0.29637	N	-1.975	0.00204	N	1.22	0.37052	T	1.89	0.00461	N	0.05	0.05287	-0.9440	0.41976	T	0.005	0.01688	T	10	0.015680939	0.00329	T	0.006253	0.16406	T	0.070	0.20419	0.336	0.32491	0.0138822411134	0.00435	0.058312770654189966	0.05772	.	.	0.259667128325	0.04852	T	0.044805	0.26927	T	-0.564216	0.00239	T	-0.752041	0.03407	T	0.00983956973385142	0.00130	T	0.470053	0.13899	T	0.028870532	0.02291	0.030175356	0.01442	0.028870532	0.02290	0.030175356	0.01442	-2.534	0.06018	T	.	.	0.072	0.04238	B	.;.	.;.	0.273434	0.06509	2.989	0.4548933884034112	0.03574	0.00719	0.03031	N	AEFDBI	.	.	.	-1.54073743668531	0.01589	0.06944841	-1.40673815638005	0.03184	0.1480131	0.95218938723758	0.28001	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.09	-0.444	0.11634	2.548000	0.45455	3.959000	0.40733	-0.865000	0.02600	0.359000	0.25834	0.092000	0.22550	0.000000	0.00833	0.7257:0.0:0.2743:0.0	7.248	0.25307	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	4072.81	37	chr6	168308990	.	G	A	4072.81	.	AC=2;AF=0.053;AN=38;DP=862;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.49;SOR=0.804	GT:AD:DP:GQ:PL	1/1:0,112:112:99:4100,337,0	18	1	0	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8158	949.0	153	chr6	170561952	.	A	*	949.0	.	AC=31;AF=0.816;AN=38;DP=3440;ExcessHet=2.0135;FS=1.339;InbreedingCoeff=-0.1874;MLEAC=31;MLEAF=0.816;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=3.29;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,57:59:92:1|1:170561949_GCAA_G:2255,92,0:170561949	0	12	7	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	9626.11	127	chr6	170561964	.	G	*	9626.11	.	AC=19;AF=0.528;AN=36;BaseQRankSum=-1.99;DP=3235;ExcessHet=0.2833;FS=3.053;InbreedingCoeff=0.0877;MLEAC=20;MLEAF=0.556;MQ=59.95;MQRankSum=0;QD=5.61;ReadPosRankSum=2.3;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,53:81:99:1|0:170561949_GCAA_G:4053,1095,890:170561949	5	6	7	1
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	2380.05	128	chr6	170561967	.	G	*	2380.05	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.939;DP=2816;ExcessHet=1.9883;FS=1.746;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=2.34;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,29:80:99:0|1:170561949_GCAA_G:1694,0,1673:170561949	6	5	8	0
chr6	170584569	170584569	C	T	exonic	PDCD2	.	nonsynonymous SNV	PDCD2:NM_001199461:exon1:c.G13A:p.G5R,PDCD2:NM_001199462:exon1:c.G13A:p.G5R,PDCD2:NM_001199463:exon1:c.G13A:p.G5R,PDCD2:NM_001199464:exon1:c.G13A:p.G5R,PDCD2:NM_001363655:exon1:c.G13A:p.G5R,PDCD2:NM_002598:exon1:c.G13A:p.G5R,PDCD2:NM_144781:exon1:c.G13A:p.G5R	.	.	.	.	.	.	.	.	.	.	.	3375092	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.004	0.00860162906217	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1041184596	2.391e-05	3.215e-05	2.39e-05	2.393e-05	0.0001	1.638e-05	1.403e-05	5.724e-05	3.675e-05	8.718e-05	0	0	0	0	0	1.896e-05	4.434e-05	0.0001	2.629e-05	2.627e-05	2.57e-05	2.691e-05	7.238e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.238e-05	0	0	0	0	0	0	1.471e-05	0	0	0.545	0.07330	T	0.557	0.10429	T	0.0	0.02946	B	0.0	0.01387	B	0.000692	0.00666	N	6.779990	1	0.08975	N	-0.895	0.01383	N	.	.	.	0.32	0.06253	N	0.064	0.17416	-1.0560	0.12776	T	0.010	0.03582	T	8	0.0351927	0.01757	T	0.008602	0.22730	T	0.004	0.00165	0.379	0.39482	0.202086224978	0.19791	0.32737827899691674	0.32650	2.05958384172	0.94402	0.76182615757	0.76201	T	0.067119	0.33119	T	-0.285833	0.10057	T	-0.648356	0.09069	T	0.0506940029672282	0.05621	T	0.341666	0.13651	T	0.031610146	0.03031	0.06716504	0.13859	0.031610146	0.03031	0.06716504	0.13859	-4.696	0.33355	T	.	.	0.182	0.61587	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.611232	0.01541	0.100	0.81789007613783882	0.13861	0.02366	0.06737	N	ALL	0.079188	0.15990	N	-1.70622712295976	0.00820	0.03544659	-1.71325370613269	0.01080	0.04848949	0.999999999999986	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	4.39	-3.08	0.05022	-1.114000	0.03404	-6.530000	0.01373	-0.150000	0.12128	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.169:0.4525:0.1657:0.2129	2.998	0.05640	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	228.35	20	chr6	170584569	.	C	T	228.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.489;DP=258;ExcessHet=0;FS=4.26;InbreedingCoeff=0.1733;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=28.54;ReadPosRankSum=-0.489;SOR=1.447	GT:AD:DP:GQ:PL	0/1:1,7:8:9:242,0,9	18	0	1	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	1206.95	21	chr7	290725	.	C	G	1206.95	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.395;DP=627;ExcessHet=25.4433;FS=271.165;InbreedingCoeff=-0.7777;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=1.14;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,11:26:63:0|1:290724_A_G:63,0,262:290724	2	0	16	1
chr7	729707	729707	C	G	exonic	DNAAF5	.	nonsynonymous SNV	DNAAF5:NM_017802:exon2:c.C640G:p.Q214E	Ciliary dyskinesia, primary, 18, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	522790	Primary_ciliary_dyskinesia_18|DNAAF5-related_disorder|Primary_ciliary_dyskinesia|not_provided	MONDO:MONDO:0013940,MedGen:C3543825,OMIM:614874,Orphanet:244|.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.086	0.00505424981264	0.0005	0.000599042	0.0006	0	0.0003	0	0.002	0.0009	0	6.097e-05	0.0005563	86	154602	rs149980915	0.0005	0.0005	0.0005	0.0005	0.0012	0.0005	0.0005	0.0006	0.0004	8.961e-05	0.0003	0.0031	0	0.0011	0.0012	0.0005	0.0008	0.0001	0.0006	0.0006	0.0005	0.0006	0.0007	0.0005	0.0005	0.0005	0.0005	0	0	0.0003	0.0040	0	0.0022	0	0.0007	0	0	0.358	0.11994	T	0.026	0.55759	D	0.704	0.41950	P	0.079	0.28749	B	0.016547	0.27949	N	0.285236	0.999976	0.53665	D	.	.	.	2.46	0.14907	T	-1.5	0.36586	N	0.508	0.53972	-1.0507	0.14203	T	0.039	0.16677	T	10	0.010944217	0.00241	T	0.005054	0.12784	T	0.086	0.25016	.	.	0.0482279557977	0.04254	0.2177555565917494	0.21691	0.231817869448	0.25732	0.646623671055	0.59506	T	0.282749	0.65549	T	-0.451995	0.01099	T	-0.496149	0.22748	T	0.0336057275283351	0.02571	T	0.90111	0.65631	D	0.18240637	0.39458	0.18276554	0.41225	0.18240637	0.39457	0.18276554	0.41224	-7.37	0.56693	T	0.7898115866822996	0.86842	0.102	0.17995	B	.	.	3.557188	0.50038	22.9	0.98293824308013056	0.39973	0.87935	0.47651	D	AEFBCI	0.546127	0.56035	D	0.135585993596401	0.48131	3.029261	0.233859878836481	0.51734	3.353595	0.999999999670092	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.06	5.06	0.67838	3.302000	0.51557	5.913000	0.51050	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.434	0.90586	946	0.12043	TOG domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2096.33	37	chr7	729707	.	C	G	2096.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.298;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-1.562;SOR=0.677	GT:AD:DP:GQ:PL	0/1:92,81:173:99:2110,0,2415	18	0	1	0
chr7	4800263	4800263	G	A	exonic	RADIL	.	nonsynonymous SNV	RADIL:NM_018059:exon13:c.C2890T:p.R964C	.	432	1053	37	0	0	37	0.0172655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0006	0.00199681	0.0034	0.0003	0.0011	0	0	0.0030	0.0158	0.0159	0.0015459	239	154602	rs200704658	0.0011	0.0012	0.0009	0.0013	0.0161	0.0011	0.0011	0.0134	0.0124	0.0005	0.0007	0.0070	2.722e-05	2.062e-05	0.0161	0.0007	0.0024	0.0052	0.0010	0.0010	0.0009	0.0010	0.0060	0.0008	0.0008	0.0043	0.0037	0.0003	0	0.0011	0.0049	0	9.409e-05	0.0102	0.0009	0.0028	0.0060	0.061	0.37118	T	0.193	0.28210	T	0.001	0.07471	B	0.0	0.01387	B	0.586789	0.11089	N	0.824423	0.999999	0.08975	N	-0.035	0.05024	N	1.08	0.39401	T	-1.42	0.34992	N	0.087	0.06454	-1.0439	0.16148	T	0.040	0.17404	T	10	0.004285276	0.00086	T	.	.	.	0.012	0.01476	.	.	0.159798565429	0.15598	0.3952173417645482	0.39436	0.0535115294369	0.05900	0.273139417171	0.06555	T	0.004797	0.04217	T	-0.602885	0.00140	T	-0.635611	0.09992	T	0.00588679547701272	0.00065	T	0.717528	0.33029	T	0.05840386	0.11744	0.042782318	0.05176	0.05840386	0.11744	0.042782318	0.05175	-5.97	0.46028	T	.	.	0.076	0.06024	B	.	.	1.010739	0.13896	10.46	0.94012572603210043	0.24115	0.05531	0.11423	N	AEFBCI	0.085644	0.17362	N	-1.33126222504903	0.03324	0.1482498	-1.33676038859087	0.03964	0.1860297	0.999248373678898	0.38873	0.646311	0.45356	0	0.514364	0.08380	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.02	-1.93	0.07180	0.072000	0.14482	-0.581000	0.08376	-0.712000	0.03928	0.410000	0.26249	0.000000	0.08366	0.112000	0.18829	0.3372:0.2701:0.3927:0.0	5.244	0.14806	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	0.011819	0.000000	0.019126	0.005917	0.000000	0.008621	0.009494	0.019231	0.05263	2158.83	48	chr7	4800263	.	G	A	2158.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.97;DP=794;ExcessHet=0.119;FS=0.596;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.787;SOR=0.63	GT:AD:DP:GQ:PL	0/1:31,45:76:99:1328,0,717	17	0	2	0
chr7	6330718	6330718	G	A	exonic	FAM220A	.	nonsynonymous SNV	FAM220A:NM_001037163:exon2:c.C437T:p.P146L	.	411	1097	14	0	0	14	0.00634058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00344751853347	0.0016	0.00139776	0.0010	0.0048	0.0005	0	0	0.0007	0.0022	0.0009	0.0009961	154	154602	rs75910050	0.0008	0.0008	0.0008	0.0008	0.0220	0.0008	0.0008	0.0189	0.0177	0.0066	0.0011	0.0005	2.519e-05	0	0.0220	0.0005	0.0022	0.0008	0.0021	0.0021	0.0021	0.0021	0.0053	0.0019	0.0018	0.0047	0.0045	0.0053	0	0.0012	0.0006	0	0	0.0034	0.0010	0.0028	0.0008	0.408	0.10212	T	0.468	0.12316	T	0.007	0.14184	B	0.005	0.11217	B	0.919104	0.08499	N	0.950055	1	0.08975	N	0.55	0.14455	N	3.23	0.06931	T	-2.74	0.58248	D	0.106	0.09066	-0.9274	0.44516	T	0.010	0.03765	T	10	0.0046599805	0.00098	T	0.003448	0.07786	T	0.049	0.13647	.	.	0.104622674875	0.10061	0.04310566517497903	0.04255	0.0417253464101	0.04484	0.242958009243	0.03063	T	0.001488	0.00934	T	-0.668667	0.00056	T	-0.732042	0.04236	T	0.00722983047872792	0.00083	T	0.548745	0.18852	T	0.027243165	0.01890	0.047713682	0.06934	0.027243165	0.01890	0.047713682	0.06933	-3.466	0.15959	T	.	.	0.125	0.26482	B	.;.	.;.	0.233142	0.06140	2.588	0.98839569530909077	0.47102	0.02741	0.07418	N	AEFBI	0.051587	0.09128	N	-1.23948508893055	0.04439	0.2003722	-1.23595987054278	0.05342	0.2543025	2.40447898683566E-4	0.06095	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	-3.22	0.04808	-1.862000	0.01745	.	.	0.654000	0.53741	0.000000	0.06391	0.000000	0.08366	0.516000	0.29383	0.0958:0.4499:0.1961:0.2582	4.092	0.09448	873	0.30802	SIPAR domain;SIPAR 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	0.010574	0.000000	0.009511	0.043860	0.000000	0.000000	0.003049	0.003788	0.02632	2673.33	34	chr7	6330718	.	G	A	2673.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.637;DP=2448;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.399;SOR=0.683	GT:AD:DP:GQ:PL	0/1:131,106:237:99:2687,0,3534	18	0	1	0
chr7	22731419	22731419	A	T	exonic	IL6	.	nonsynonymous SNV	IL6:NM_001318095:exon4:c.A257T:p.D86V,IL6:NM_000600:exon5:c.A485T:p.D162V,IL6:NM_001371096:exon5:c.A416T:p.D139V	.	0	1503	19	0	0	19	0.00628099	.	.	.	700001	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.020	.	0.0058	0.00279553	0.0062	0.0022	0.0009	0.0002	0.0083	0.0073	0.0067	0.0109	0.0060931	942	154602	rs2069860	0.0076	0.0076	0.0076	0.0077	0.0102	0.0075	0.0074	0.0097	0.0094	0.0009	0.0013	0.0003	2.566e-05	0.0080	0.0022	0.0083	0.0072	0.0102	0.0055	0.0055	0.0052	0.0058	0.0122	0.0052	0.0051	0.0097	0.0088	0.0016	0.0373	0.0014	0.0012	0	0.0064	0	0.0084	0.0038	0.0122	0.12	0.31235	T	0.083	0.41573	T	0.008	0.14655	B	0.014	0.16862	B	0.367792	0.04343	N	1.364740	0.999999	0.08975	N	0.28	0.10031	N	2.04	0.20808	T	-3.59	0.74821	D	0.174	0.19995	-1.0143	0.25561	T	0.027	0.11707	T	10	0.0041643977	0.00082	T	.	.	.	0.020	0.03691	.	.	0.252681307341	0.24864	0.34389171857635153	0.34303	0.254230594526	0.27993	0.233187764883	0.02212	T	0.217212	0.57960	T	-0.628139	0.00098	T	-0.66566	0.07889	T	0.00587453440975824	0.00064	T	0.675632	0.28413	T	0.5297624	0.68816	0.14002968	0.33391	0.5297624	0.68817	0.14002968	0.33390	-4.125	0.25658	T	.	.	0.140	0.30608	B	.;.;.;.	.;.;.;.	0.152254	0.05441	1.914	0.50400417520457252	0.04377	0.07023	0.13049	N	AEFDGBCIJ	0.075782	0.15228	N	-1.29959032119216	0.03681	0.1648611	-1.30987625810803	0.04302	0.2026087	0.999999999893954	0.74766	0.722319	0.85440	0	0.475579	0.06741	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	5.66	0.444	0.15803	-0.193000	0.09572	0.002000	0.13306	-0.737000	0.03687	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5529:0.1477:0.1577:0.1417	1.436	0.02202	901	0.24189	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.003788	0.05263	4043.81	33	chr7	22731419	.	A	T	4043.81	.	AC=2;AF=0.053;AN=38;DP=754;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.63;SOR=1.162	GT:AD:DP:GQ:PL	1/1:0,132:132:99:4071,396,0	18	1	0	0
chr7	27094575	27094578	ACCC	-	exonic	HOXA1	.	frameshift deletion	HOXA1:NM_005522:exon2:c.870_873del:p.E290Dfs*41	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1845.33	33	chr7	27094574	.	GACCC	G	1845.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.915;DP=1478;ExcessHet=1.3;FS=134.511;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=1.51;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,30:177:99:0|1:27094574_GACCC_G:163,0,5455:27094574	14	0	5	0
chr7	27094578	27094578	-	GGGG	exonic	HOXA1	.	frameshift insertion	HOXA1:NM_005522:exon2:c.869_870insCCCC:p.E290Dfs*128	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1783.33	33	chr7	27094578	.	C	CGGGG	1783.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.156;DP=1454;ExcessHet=1.3;FS=134.511;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=2.06;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,27:174:99:0|1:27094574_GACCC_G:142,0,5462:27094574	14	0	5	0
chr7	30446188	30446188	C	G	exonic	NOD1	.	nonsynonymous SNV	NOD1:NM_001354849:exon9:c.G2406C:p.K802N,NOD1:NM_006092:exon9:c.G2406C:p.K802N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0689500649545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0043	0.0008	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0007	4.479e-05	0.0003	2.536e-05	1.874e-05	0.0004	0.0008	0.0007	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.018	0.59732	D	0.942	0.52977	P	0.697	0.54061	P	0.000032	0.55875	D	0.190889	0.966891	0.38559	D	1.64	0.41913	L	-0.24	0.66834	T	-2.97	0.61865	D	0.635	0.64818	-0.5186	0.67966	T	0.323	0.69177	T	10	0.7050225	0.72683	D	0.06895	0.70595	D	0.177	0.44549	0.387	0.40788	0.894045435077	0.89299	0.4355661146951452	0.43473	0.617561874547	0.56189	0.462699949741	0.33681	T	0.14665	0.48435	T	-0.138881	0.30068	T	-0.43727	0.29114	T	0.985395491123199	0.76401	D	0.922508	0.71813	D	0.33777446	0.56102	0.20677517	0.44907	0.33777446	0.56102	0.20677517	0.44906	-7.6	0.58311	D	.	.	0.536	0.66190	A	.	.	4.080191	0.60688	24.2	0.99860283607025768	0.93911	0.38904	0.26093	N	AEFGBHCI	0.291813	0.40285	N	0.326417966070398	0.57508	3.918382	0.301145757670786	0.55606	3.724	0.999999999809702	0.74766	0.615465	0.37627	0	0.71359	0.82159	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.38	4.49	0.54177	1.026000	0.29708	1.366000	0.25918	0.599000	0.40250	0.992000	0.37556	0.999000	0.35428	0.998000	0.85391	0.0:0.7718:0.1502:0.078	8.934	0.34846	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	625.69	40	chr7	30446188	.	C	G	625.69	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.478;DP=1332;ExcessHet=0.3672;FS=244.78;InbreedingCoeff=-0.0996;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.61;ReadPosRankSum=2.27;SOR=10.163	GT:AD:DP:GQ:PL	0/1:78,44:122:99:538,0,1517	16	0	3	0
chr7	42048557	42048557	G	A	exonic	GLI3	.	nonsynonymous SNV	GLI3:NM_000168:exon5:c.C613T:p.R205C	Greig cephalopolysyndactyly syndrome, Autosomal dominant;Pallister-Hall syndrome, Autosomal dominant;Polydactyly, postaxial, types A1 and B, Autosomal dominant;Polydactyly, preaxial, type IV, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1583790	Inborn_genetic_diseases|Greig_cephalopolysyndactyly_syndrome|Pallister-Hall_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008287,MedGen:C0265306,OMIM:175700,Orphanet:380|MONDO:MONDO:0007804,MedGen:C0265220,OMIM:146510,Orphanet:672	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.459	0.246430408368	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs767832980	2.668e-05	2.668e-05	3.268e-05	2.063e-05	4.637e-05	1.998e-05	1.754e-05	2.201e-05	1.942e-05	2.987e-05	0	0	0	0	0	3.058e-05	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.14	0.59869	M	0.74	0.50459	T	-6.88	0.93217	D	0.924	0.92784	-0.4309	0.71037	T	0.291	0.66316	T	10	0.70039606	0.72406	D	0.24643	0.88927	D	0.459	0.75687	0.402	0.43245	0.865438082875	0.86413	0.7056391532323111	0.70505	0.722435390208	0.62276	0.840439081192	0.88162	D	0.85586	0.96760	D	0.245739	0.78201	D	0.130696	0.78937	D	0.946977317333221	0.62583	D	0.959804	0.84855	D	0.6713355	0.76504	0.39442566	0.64137	0.6713355	0.76506	0.39442566	0.64137	-10.321	0.75811	D	0.968081676469792	0.98997	0.503	0.64704	A	.;.	.;.	4.657355	0.74301	26.1	0.99891358274584563	0.96513	0.94708	0.62057	D	AEFBI	0.692527	0.65216	D	0.41459679585326	0.62224	4.43492	0.363389471216726	0.59317	4.108656	0.410786487379796	0.20210	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.55	4.65	0.57626	3.832000	0.55485	9.866000	0.82092	-0.247000	0.07223	1.000000	0.71638	1.000000	0.68203	0.891000	0.42908	0.0:0.0:0.6074:0.3926	13.874	0.63145	871	0.31377	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3887.33	127	chr7	42048557	.	G	A	3887.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=1555;ExcessHet=0;FS=4.654;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.347;SOR=0.962	GT:AD:DP:GQ:PL	0/1:144,141:285:99:3901,0,3609	18	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	510.68	118	chr7	43624718	.	C	G	510.68	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.361;DP=2084;ExcessHet=5.3738;FS=242.676;InbreedingCoeff=-0.3047;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=1.5;SOR=12.174	GT:AD:DP:GQ:PL	0/1:93,35:128:37:37,0,1929	10	0	9	0
chr7	45082362	45082362	G	A	exonic	NACAD	.	nonsynonymous SNV	NACAD:NM_001146334:exon2:c.C3818T:p.P1273L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0168751961378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.078	0.42261	T	0.997	0.70673	D	0.878	0.62312	P	0.100341	0.02541	U	16.722900	1	0.08975	N	1.245	0.31408	L	2.47	0.14783	T	-4.7	0.79829	D	0.162	0.17002	-1.0582	0.12209	T	0.063	0.26208	T	10	0.16849577	0.31404	T	0.016875	0.38341	T	0.036	0.09122	0.208	0.12497	0.33085137897	0.32697	0.10305493048065069	0.10235	0.00381333933618	0.00329	0.320897102356	0.13558	T	0.057561	0.30601	T	-0.306528	0.08057	T	-0.678082	0.07101	T	0.531422138214111	0.33786	D	0.582642	0.21138	T	0.054461285	0.10451	0.09503688	0.22522	0.054461285	0.10450	0.09503688	0.22522	-4.453	0.30269	T	.	.	0.076	0.05845	B	.	.	1.913349	0.24300	16.35	0.98711017464439688	0.45054	0.00593	0.02656	N	AEFDBI	0.035577	0.04603	N	-0.388245546096222	0.25887	1.408632	-0.592206172250763	0.19695	1.057862	0.660226795391123	0.22262	0.554377	0.28877	0	0.59043	0.45803	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	3.36	2.01	0.25568	0.133000	0.15736	1.642000	0.27798	0.665000	0.62972	0.000000	0.06391	0.003000	0.18671	0.619000	0.31870	0.406:0.0:0.594:0.0	4.025	0.09169	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1426.33	33	chr7	45082362	.	G	A	1426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=727;ExcessHet=0;FS=4.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.05;ReadPosRankSum=0.397;SOR=0.819	GT:AD:DP:GQ:PL	0/1:29,50:79:99:1440,0,658	18	0	1	0
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00127835857952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.161	0.31326	T	0.067	0.23653	B	0.015	0.17295	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.32	0.33002	L	2.05	0.20664	T	-0.76	0.21215	N	0.077	0.05162	-0.9874	0.33249	T	0.034	0.14683	T	10	0.047335982	0.04037	T	0.001278	0.01759	T	0.025	0.05312	0.437	0.48993	0.0884992946249	0.08302	0.058640025517176016	0.05805	0.097110365055	0.10970	0.267502307892	0.05817	T	0.053076	0.29342	T	-0.296889	0.08955	T	-0.664237	0.07983	T	0.0382535461650476	0.03377	T	0.442656	0.12286	T	0.04340317	0.06758	0.03085182	0.01594	0.04340317	0.06758	0.03085182	0.01594	-2.84	0.08557	T	0.18439717788962887	0.23915	0.085	0.10352	B	.	.	0.333476	0.07071	3.643	0.89928721472256545	0.19227	0.00981	0.03737	N	AEFDBI	0.033246	0.03905	N	-0.949154353178447	0.09711	0.4608325	-1.01287491586493	0.09502	0.4730853	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1923	628.94	36	chr7	47829595	.	G	C	628.94	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-3.169;DP=1751;ExcessHet=1.3;FS=181.294;InbreedingCoeff=-0.2531;MLEAC=6;MLEAF=0.231;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=-0.191;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,40:132:99:0|1:47829595_G_C:192,0,2013:47829595	8	0	5	6
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	4446.21	147	chr7	47829596	.	G	C	4446.21	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-0.867;DP=2277;ExcessHet=25.4433;FS=276.126;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.54;ReadPosRankSum=0.158;SOR=13.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,40:132:99:0|1:47829595_G_C:192,0,2013:47829595	4	0	15	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V,UPP1:NM_001287426:exon7:c.A334G:p.I112V,UPP1:NM_001362774:exon7:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	1133.83	136	chr7	48103309	.	A	G	1133.83	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.526;DP=1709;ExcessHet=11.1788;FS=109.594;InbreedingCoeff=-0.4559;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.783;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,20:96:99:0|1:48103308_C_G:125,0,2268:48103308	6	0	12	1
chr7	48278342	48278342	T	G	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon18:c.T7148G:p.I2383R	.	432	1052	38	0	0	38	0.0177404	.	.	.	2828473	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.057	0.00498755634318	0.0003	0.000998403	0.0020	0	0.0006	0	0	0.0009	0.0048	0.0100	0.0015718	243	154602	rs200243325	0.0011	0.0011	0.0008	0.0014	0.0100	0.0011	0.0010	0.0095	0.0093	2.988e-05	0.0004	0.0063	0	0	0.0069	0.0004	0.0014	0.0100	0.0008	0.0008	0.0007	0.0010	0.0081	0.0007	0.0007	0.0061	0.0054	7.216e-05	0	0.0010	0.0072	0	0	0.0068	0.0005	0.0009	0.0081	0.013	0.53900	D	0.05	0.48080	T	.	.	.	.	.	.	0.164925	0.03067	N	1.942520	1	0.08975	N	.	.	.	0.6	0.53731	T	-0.66	0.19085	N	0.391	0.43223	-1.0175	0.24528	T	0.091	0.34792	T	10	0.005479306	0.00121	T	0.004988	0.12598	T	0.057	0.16321	.	.	0.0846915920261	0.08053	0.10403520779788683	0.10333	0.0386635034883	0.04113	0.242333874106	0.03005	T	.	.	.	-0.546901	0.00305	T	-0.5504	0.17288	T	0.014010140954155	0.00270	T	0.254275	0.03911	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06250	B	.	.	-1.109950	0.00629	0.017	0.53413832604454525	0.04935	0.02346	0.06699	N	AEDBI	0.045459	0.07437	N	-1.62254898584142	0.01156	0.05024032	-1.76819471848401	0.00867	0.03873141	0.98170824009075	0.30299	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.57	-9.07	0.00619	-1.507000	0.02373	-2.078000	0.04246	-1.433000	0.01113	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2193:0.38:0.1118:0.2888	2.202	0.03687	674	0.60593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003525	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.003788	0.02632	1418.33	33	chr7	48278342	.	T	G	1418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.424;DP=716;ExcessHet=0;FS=2.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.699;SOR=0.462	GT:AD:DP:GQ:PL	0/1:52,53:105:99:1432,0,1489	18	0	1	0
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2353	1577.5	244	chr7	50368104	.	C	G	1577.5	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-4.459;DP=2555;ExcessHet=4.0268;FS=190.894;InbreedingCoeff=-0.3109;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=2.98;SOR=12.201	GT:AD:DP:GQ:PL	0/1:103,28:134:99:142,0,3403	9	0	8	2
chr7	73304007	73304007	C	T	exonic	NSUN5	.	nonsynonymous SNV	NSUN5:NM_001168347:exon8:c.G964A:p.G322R,NSUN5:NM_001168348:exon8:c.G850A:p.G284R,NSUN5:NM_018044:exon8:c.G964A:p.G322R,NSUN5:NM_148956:exon8:c.G964A:p.G322R	.	419	1102	1	0	0	1	0.000453515	.	.	.	2209927	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.00545376511657	.	0.000199681	3.32e-05	9.758e-05	0.0002	0	0	1.511e-05	0	0	3.23e-05	5	154602	.	3.968e-05	3.967e-05	3.403e-05	4.538e-05	0.0002	3.113e-05	2.847e-05	5.849e-05	3.758e-05	0.0001	6.709e-05	0	5.038e-05	0	0.0002	4.227e-05	0	0	1.313e-05	1.312e-05	2.57e-05	0	4.812e-05	2.18e-06	8.2e-07	7.97e-06	2.98e-06	4.812e-05	0	0	0	0	0	0	0	0	0	0.409	0.10588	T	0.413	0.14412	T	0.433	0.37766	B	0.187	0.36167	B	0.445433	0.12574	N	0.775886	0.78264	0.29315	N	-0.025	0.05070	N	3.03	0.08898	T	-0.92	0.24676	N	0.265	0.30004	-1.0549	0.13066	T	0.017	0.06998	T	10	0.071692586	0.10601	T	0.005454	0.14015	T	0.064	0.18567	0.424	0.46857	0.371718192555	0.36778	0.3488978476506601	0.34803	0.63320983695	0.57221	0.537895560265	0.44148	T	0.002907	0.02299	T	-0.435302	0.01378	T	-0.626389	0.10690	T	0.0367005243897438	0.03104	T	0.775222	0.40827	T	0.06708486	0.14496	0.07332465	0.15921	0.06708486	0.14495	0.07332465	0.15920	-5.854	0.45085	T	.	.	0.109	0.27998	B	.;.;.;.	.;.;.;.	1.993401	0.25328	16.72	0.80871326756949713	0.13409	0.23345	0.22046	N	AEFBCI	0.066472	0.13019	N	-0.598609221693546	0.18987	0.9902145	-0.648703500888558	0.18250	0.9740693	0.639871114025432	0.22043	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.668105	0.65232	0	.	.	4.28	3.4	0.38031	1.248000	0.32429	0.135000	0.15097	0.436000	0.21017	0.002000	0.15269	0.000000	0.08366	0.039000	0.14166	0.0:0.9096:0.0:0.0904	11.143	0.47637	888	0.27761	.;SAM-dependent methyltransferase RsmB/NOP2-type|SAM-dependent methyltransferase RsmB/NOP2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1802.33	37	chr7	73304007	.	C	T	1802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.663;DP=901;ExcessHet=0;FS=3.216;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.11;MQRankSum=0.795;QD=13.86;ReadPosRankSum=-0.126;SOR=0.443	GT:AD:DP:GQ:PL	0/1:60,70:130:99:1816,0,1559	18	0	1	0
chr7	75881969	75881969	G	A	exonic	RHBDD2	.	nonsynonymous SNV	RHBDD2:NM_001040456:exon2:c.G319A:p.A107T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00465810805836	.	.	4.14e-05	0	0	0	0	2.997e-05	0	0.0002	3.23e-05	5	154602	rs782706762	3.694e-05	3.694e-05	2.859e-05	4.538e-05	9.275e-05	2.894e-05	2.592e-05	4.578e-05	3.272e-05	0	0	0	2.519e-05	0	0	4.047e-05	0	9.275e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.479	0.08261	T	0.132	0.34477	T	0.019	0.17989	B	0.01	0.14941	B	0.083947	0.20724	N	0.496746	1	0.81001	D	0.405	0.12330	N	2.45	0.15028	T	-1.01	0.26639	N	0.184	0.19995	-1.0329	0.19522	T	0.025	0.10733	T	10	0.11686766	0.22057	T	0.004658	0.11566	T	0.092	0.26621	0.724	0.85850	0.231005064126	0.22704	0.40287268736477017	0.40203	0.264593747755	0.29004	0.365835487843	0.20233	T	0.057725	0.30645	T	-0.399975	0.02316	T	-0.609659	0.12013	T	0.02732558939236	0.01590	T	0.670833	0.27951	T	0.037215043	0.04729	0.05089632	0.08081	0.037215043	0.04729	0.05089632	0.08081	-3.208	0.12579	T	.	.	0.095	0.14888	B	.	.	1.591101	0.20349	14.71	0.95670852722404476	0.27516	0.50589	0.28698	D	AEFDGBCI	0.119453	0.23313	N	-0.928774659929672	0.10174	0.4848963	-0.850090449621935	0.13285	0.6883502	0.977285112094437	0.29806	0.722319	0.85440	0	0.697927	0.68747	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.63	-3.28	0.04721	0.570000	0.23357	0.162000	0.15417	-0.633000	0.04490	0.935000	0.32453	0.006000	0.19429	0.979000	0.57723	0.5367:0.0:0.3596:0.1037	7.880	0.28777	711	0.56613	Peptidase S54, rhomboid domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3300.33	40	chr7	75881969	.	G	A	3300.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.308;DP=896;ExcessHet=0;FS=2.26;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.709;SOR=0.877	GT:AD:DP:GQ:PL	0/1:104,126:230:99:3314,0,2522	18	0	1	0
chr7	82949821	82949821	G	C	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon6:c.C10767G:p.D3589E,PCLO:NM_033026:exon6:c.C10767G:p.D3589E	.	.	.	.	.	.	.	.	.	.	.	1652652	PCLO-related_disorder|not_specified|not_provided|Inborn_genetic_diseases	.|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.063	0.00261767153058	0.0021	0.00299521	0.0006	0.0062	0.0010	0	0	2.998e-05	0	0	0.0006274	97	154602	rs149879954	0.0002	0.0002	0.0003	0.0002	0.0063	0.0002	0.0002	0.0056	0.0053	0.0063	0.0011	0	0	5.618e-05	0.0002	8.095e-06	0.0006	2.319e-05	0.0021	0.0021	0.0021	0.0019	0.0069	0.0019	0.0018	0.0062	0.0060	0.0069	0	0.0012	0	0	0	0	4.411e-05	0.0024	0	0.496	0.07846	T	1.0	0.04603	T	0.75	0.43260	P	0.321	0.41760	B	.	.	.	.	0.547387	0.32104	D	.	.	.	2.66	0.12575	T	-1.2	0.30555	N	0.341	0.38232	-1.0565	0.12646	T	0.018	0.07234	T	9	0.008528382	0.00193	T	0.002618	0.05320	T	0.063	0.18251	.	.	0.239312915715	0.23560	0.2738981086117632	0.27302	0.0348790761822	0.03674	0.660168945789	0.61433	T	.	.	.	-0.524029	0.00417	T	-0.522479	0.20045	T	0.0178826791749702	0.00515	T	0.715328	0.56597	T	0.079063244	0.18042	0.090341285	0.21181	0.079063244	0.18042	0.090341285	0.21180	-3.126	0.11597	T	.	.	0.182	0.40295	B	.;.;.	.;.;.	2.983788	0.39815	21.0	0.45170909459622283	0.03526	0.92734	0.56415	D	AEFBI	0.576734	0.57861	D	0.0941232643451896	0.46187	2.863122	0.221404153343491	0.51035	3.289772	7.33231038183481E-4	0.07723	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.71	4.82	0.61641	2.582000	0.45751	9.869000	0.82114	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.178:0.0:0.6291:0.1929	4.478	0.11164	888	0.27761	.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2309.33	33	chr7	82949821	.	G	C	2309.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=863;ExcessHet=0;FS=1.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.488;SOR=0.829	GT:AD:DP:GQ:PL	0/1:137,92:229:99:2323,0,3679	18	0	1	0
chr7	87188223	87188223	G	T	exonic	DMTF1	.	nonsynonymous SNV	DMTF1:NM_001142326:exon12:c.G1069T:p.A357S,DMTF1:NM_001142327:exon13:c.G1333T:p.A445S,DMTF1:NM_021145:exon15:c.G1333T:p.A445S	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0190496322505	0.0009	0.00139776	0.0003	0.0028	0.0003	0	0	0	0	6.056e-05	0.0002587	40	154602	rs146399689	0.0001	0.0001	0.0001	9.764e-05	0.0034	9.116e-05	8.646e-05	0.0029	0.0027	0.0034	0.0002	0	0	0	0	8.994e-07	0.0004	5.797e-05	0.0008	0.0008	0.0009	0.0008	0.0029	0.0007	0.0007	0.0025	0.0023	0.0029	0	0.0003	0	0	0	0	1.47e-05	0	0.0004	0.004	0.78490	D	0.072	0.44702	T	0.787	0.44504	P	0.248	0.38946	B	0.000085	0.51296	D	0.196417	0.999487	0.81001	D	0.895	0.22405	L	0.74	0.50459	T	-0.1	0.08809	N	0.424	0.47949	-1.0955	0.04681	T	0.045	0.19397	T	10	0.006762713	0.00153	T	0.01905	0.41305	T	0.096	0.27654	.	.	0.182106788282	0.17826	0.306310345189432	0.30544	0.138138426082	0.15575	0.455259203911	0.32663	T	0.034875	0.23497	T	-0.378971	0.03162	T	-0.32238	0.42312	T	0.0372285358639343	0.03197	T	0.914708	0.69569	D	0.17460538	0.38274	0.16003174	0.37294	0.17460538	0.38274	0.16003174	0.37293	-3.566	0.18539	T	0.17748277437620932	0.22699	0.099	0.21691	B	.;.;.	.;.;.	3.168147	0.42956	21.6	0.9965066600601038	0.77254	0.96922	0.71675	D	AEFDBHCI	0.612000	0.60024	D	0.215925131014895	0.51970	3.374375	0.360495031026542	0.59142	4.08969	0.999997508297914	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.57	5.57	0.84021	5.191000	0.64948	11.900000	0.99328	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.910	0.92453	496	0.76301	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1729.33	39	chr7	87188223	.	G	T	1729.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.156;DP=771;ExcessHet=0;FS=4.097;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=1.05;SOR=0.413	GT:AD:DP:GQ:PL	0/1:66,71:137:99:1743,0,1725	18	0	1	0
chr7	87628893	87628893	C	A	exonic	RUNDC3B	.	nonsynonymous SNV	RUNDC3B:NM_001134405:exon1:c.C70A:p.L24M,RUNDC3B:NM_001134406:exon1:c.C70A:p.L24M,RUNDC3B:NM_138290:exon1:c.C70A:p.L24M	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0288607930194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.685e-07	4.104e-06	1.664e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	2.175e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.30656	T	0.232	0.24987	T	0.984	0.60733	D	0.969	0.72001	D	0.278191	0.14995	N	0.620433	1	0.81001	D	0	0.06538	N	2.43	0.15261	T	-0.12	0.08809	N	0.241	0.29889	-1.0661	0.10293	T	0.041	0.17785	T	10	0.14539555	0.27580	T	0.028861	0.51467	D	0.107	0.30369	0.258	0.20002	0.339793275041	0.33585	0.19487279323648313	0.19405	0.160014579541	0.18050	0.859219312668	0.90995	D	0.028227	0.20494	T	-0.195193	0.21501	T	-0.518158	0.20482	T	0.503414332866669	0.32754	D	0.637136	0.29438	T	0.10071139	0.23784	0.11534926	0.27846	0.10071139	0.23783	0.11534926	0.27845	-5.401	0.40996	T	.	.	0.115	0.24088	B	.;.;.	.;.;.	2.332871	0.29889	18.27	0.97688071450716529	0.35358	0.49119	0.28361	N	AEFDBCIJ	0.164869	0.29130	N	-0.0199432257900124	0.40954	2.441086	-0.0138987134207908	0.39085	2.312238	0.995179549355318	0.33988	0.437478	0.07067	0	0.475579	0.06741	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.23	2.43	0.28797	0.155000	0.16180	1.210000	0.24900	-0.182000	0.10109	0.995000	0.38783	1.000000	0.68203	0.995000	0.73285	0.0:0.7757:0.0:0.2243	6.390	0.20784	630	0.65016	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	565.33	24	chr7	87628893	.	C	A	565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=674;ExcessHet=0;FS=6.862;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=-0.35;SOR=1.277	GT:AD:DP:GQ:PL	0/1:42,25:67:99:579,0,1096	18	0	1	0
chr7	91973950	91973950	G	T	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_005751:exon2:c.G288T:p.E96D,AKAP9:NM_147185:exon2:c.G288T:p.E96D	.	0	1521	1	0	0	1	0.000328623	.	.	.	188432	Long_QT_syndrome_11|AKAP9-related_disorder|Long_QT_syndrome|not_specified|Cardiovascular_phenotype	MONDO:MONDO:0012738,MedGen:C2678483,OMIM:611820,Orphanet:101016,Orphanet:768|.|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN169374|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.007	0.00261936188278	0.0012	0.00139776	0.0002	0.0026	0.0002	0	0	0	0.0011	0	0.0002393	37	154602	rs34953651	8.278e-05	8.277e-05	0.0001	6.463e-05	0.0030	7.069e-05	6.618e-05	0.0025	0.0024	0.0030	0.0002	0	0	0	0	4.497e-06	9.935e-05	1.159e-05	0.0010	0.0010	0.0011	0.0009	0.0037	0.0009	0.0008	0.0033	0.0031	0.0037	0	6.539e-05	0	0	0	0	1.471e-05	0	0	1.0	0.00964	T	1.0	0.05939	T	0.0	0.02946	B	0.0	0.01387	B	0.773622	0.09527	N	0.861583	1	0.08975	N	.	.	.	2.57	0.15724	T	1.03	0.01350	N	0.065	0.10056	-0.9319	0.43859	T	0.009	0.03140	T	10	0.0051324964	0.00111	T	0.002619	0.05320	T	0.007	0.00512	0.253	0.19223	0.107399877778	0.10242	0.04221912728933464	0.04166	0.0494023955414	0.05411	0.271786630154	0.06375	T	0.222752	0.59126	T	-0.715696	0.00029	T	-0.802297	0.01845	T	0.00494998546037032	0.00053	T	0.574243	0.20591	T	0.036584087	0.04528	0.044111244	0.05641	0.0347752	0.03967	0.039853908	0.04173	-3.115	0.11469	T	.	.	0.072	0.06663	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.391316	0.02244	0.229	0.37050054196962318	0.02418	0.01630	0.05256	N	AEFDBI	0.032711	0.03746	N	-1.62843764256924	0.01129	0.04904524	-1.55762099013264	0.01924	0.08777849	0.0235114319707664	0.13513	0.706298	0.61202	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.26	-2.38	0.06243	-0.490000	0.06562	-0.554000	0.08512	-0.191000	0.09375	0.091000	0.22601	0.020000	0.20764	0.291000	0.24285	0.0:0.3496:0.4436:0.2068	7.642	0.27468	146	0.94180	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1061.33	33	chr7	91973950	.	G	T	1061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.88;DP=723;ExcessHet=0;FS=5.688;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.154;SOR=1.32	GT:AD:DP:GQ:PL	0/1:51,38:89:99:1075,0,1284	18	0	1	0
chr7	92040822	92040822	G	A	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_005751:exon18:c.G4841A:p.R1614Q,AKAP9:NM_147185:exon18:c.G4841A:p.R1614Q	.	1	1517	4	0	0	4	0.00131666	.	.	.	140033	Long_QT_syndrome|not_provided|Long_QT_syndrome_11|not_specified|Cardiovascular_phenotype|Congenital_long_QT_syndrome	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:C3661900|MONDO:MONDO:0012738,MedGen:C2678483,OMIM:611820,Orphanet:101016,Orphanet:768|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.021	.	0.0085	0.00898562	0.0023	0.0246	0.0012	0	0	0	0.0011	0.0002	0.0022121	342	154602	rs2230768	0.0007	0.0007	0.0008	0.0006	0.0240	0.0007	0.0007	0.0226	0.0220	0.0240	0.0011	0	0	0	0.0003	4.586e-05	0.0015	0.0004	0.0078	0.0078	0.0086	0.0069	0.0272	0.0074	0.0073	0.0259	0.0253	0.0272	0	0.0022	0	0	0	0	0.0001	0.0057	0.0002	0.61	0.05468	T	0.616	0.07543	T	.	.	.	.	.	.	0.051098	0.23013	N	0.221905	0.999999	0.08975	N	.	.	.	4.1	0.02944	T	0.13	0.05503	N	0.105	0.10198	-0.8902	0.48916	T	0.002	0.00676	T	10	0.0024280548	0.00036	T	.	.	.	0.021	0.04004	.	.	0.170165803431	0.16609	0.051017992049320796	0.05043	0.0657727267597	0.07340	0.284583806992	0.08141	T	0.226294	0.59128	T	-0.700711	0.00036	T	-0.757669	0.03196	T	0.00040348375715017	0.00003	T	0.884312	0.63622	D	0.02304902	0.01012	0.033941746	0.02375	0.037112333	0.04694	0.029517153	0.01298	-4.048	0.24519	T	.	.	0.096	0.20313	B	.;.;.;.	.;.;.;.	2.367652	0.30374	18.42	0.924192224954407	0.21835	0.11957	0.16970	N	AEFBI	0.029805	0.02881	N	-0.715390197206987	0.15590	0.7869578	-0.667323718859663	0.17780	0.9469289	0.908041633314627	0.26274	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	1.43	0.21585	0.527000	0.22695	0.989000	0.23179	0.613000	0.49114	0.505000	0.26994	0.355000	0.24491	0.764000	0.36293	0.5055:0.0:0.4945:0.0	7.685	0.27700	231	0.90996	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1754.33	38	chr7	92040822	.	G	A	1754.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.85;DP=1148;ExcessHet=0;FS=2.112;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.279;SOR=0.931	GT:AD:DP:GQ:PL	0/1:88,60:148:99:1768,0,2112	18	0	1	0
chr7	92469336	92469336	T	C	exonic	ERVW-1	.	nonsynonymous SNV	ERVW-1:NM_014590:exon1:c.A1046G:p.K349R,ERVW-1:NM_001130925:exon2:c.A1046G:p.K349R	.	531	986	4	1	0	6	0.00303337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0042	0.00439297	0.0011	0.0129	0.0003	0	0	0	0	0.0001	0.0010608	164	154602	rs148969166	0.0005	0.0005	0.0006	0.0004	0.0131	0.0004	0.0004	0.0117	0.0111	0.0131	0.0004	0	0	0	0.0008	2.858e-06	0.0010	5.739e-05	0.0038	0.0039	0.0040	0.0037	0.0138	0.0036	0.0035	0.0128	0.0125	0.0138	0	0.0006	0	0	0	0	0	0.0019	0	0.072	0.34982	T	0.293	0.20811	T	.	.	.	.	.	.	0.929324	0.08432	U	0.899723	0.999999	0.08975	N	.	.	.	2.13	0.19588	T	-1.07	0.27876	N	0.062	0.03841	-0.9843	0.33998	T	0.038	0.16290	T	7	0.013877869	0.00293	T	.	.	.	0.078	0.22779	.	.	0.259761712551	0.25597	0.36868641104340016	0.36782	0.329409374188	0.35053	0.530880212784	0.43159	T	0.002985	0.02381	T	-0.363128	0.03956	T	-0.759384	0.03135	T	0.00722816777664879	0.00083	T	0.417558	0.11011	T	0.10871068	0.25703	0.1605261	0.37385	0.10871068	0.25703	0.1605261	0.37384	-3.896	0.22243	T	.	.	0.093	0.14660	B	.;.	.;.	1.383783	0.17953	13.47	0.97800487967636074	0.36058	0.01015	0.03823	N	AEFI	0.039574	0.05768	N	-0.515249929023873	0.21586	1.147	-0.676570430657579	0.17547	0.9335177	2.73064998997894E-4	0.06300	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	0.147000	0.16021	0.282000	0.16777	0.168000	0.17747	0.462000	0.26659	0.348000	0.24457	0.558000	0.30364	.	.	.	610	0.67008	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1146.33	120	chr7	92469336	.	T	C	1146.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.274;DP=1351;ExcessHet=0;FS=5.461;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=1.57;SOR=0.472	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1160,0,1193	18	0	1	0
chr7	92532425	92532425	T	A	exonic	RBM48	.	nonsynonymous SNV	RBM48:NM_001363366:exon3:c.T324A:p.D108E,RBM48:NM_032120:exon3:c.T324A:p.D108E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.562	0.0534138037586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	2.965	0.85198	M	.	.	.	-3.99	0.73893	D	0.791	0.78737	-0.1736	0.78340	T	0.438	0.77695	T	9	0.7902355	0.78597	D	0.053414	0.65459	D	0.562	0.82061	0.713	0.84872	0.787037328628	0.78506	0.39073612321087753	0.38988	0.777397811741	0.65109	0.649977445602	0.59983	T	0.551408	0.84818	D	0.384973	0.89026	D	0.315211	0.88887	D	0.997321665287018	0.91287	D	0.947905	0.84340	D	0.7816089	0.82753	0.67916864	0.81152	0.7816089	0.82754	0.67916864	0.81153	-11.071	0.80393	D	0.8272468651233572	0.89890	0.976	0.90325	P	.;.;.	.;.;.	4.138632	0.61994	24.4	0.9967321859047702	0.78717	0.96822	0.71126	D	AEFBI	0.473076	0.51792	N	0.616080146843969	0.74191	6.090942	0.535632429504426	0.70403	5.50028	0.946317225955696	0.27700	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.34	4.18	0.48473	3.747000	0.54853	3.483000	0.38662	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1704:0.0:0.8296	8.285	0.31084	808	0.43318	RBM48, RNA recognition motif;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1217.33	34	chr7	92532425	.	T	A	1217.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.467;DP=736;ExcessHet=0;FS=2.436;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.303;SOR=0.592	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1231,0,1386	18	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	2467.21	234	chr7	93102964	.	C	G	2467.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.872;DP=2943;ExcessHet=11.1788;FS=134.431;InbreedingCoeff=-0.4896;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.682;SOR=12.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:125,37:163:99:.:.:224,0,4411:.	7	0	12	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	2997.96	237	chr7	93102965	.	C	G	2997.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-5.417;DP=3257;ExcessHet=17.0548;FS=143.104;InbreedingCoeff=-0.6131;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.833;SOR=12.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:121,37:163:99:.:.:228,0,4376:.	5	0	14	0
chr7	93135686	93135686	A	G	exonic	SAMD9L	.	nonsynonymous SNV	SAMD9L:NM_001303500:exon4:c.T286C:p.S96P,SAMD9L:NM_001350083:exon4:c.T286C:p.S96P,SAMD9L:NM_001303496:exon5:c.T286C:p.S96P,SAMD9L:NM_001303498:exon5:c.T286C:p.S96P,SAMD9L:NM_001350085:exon5:c.T286C:p.S96P,SAMD9L:NM_152703:exon5:c.T286C:p.S96P,SAMD9L:NM_001303497:exon6:c.T286C:p.S96P,SAMD9L:NM_001350082:exon6:c.T286C:p.S96P,SAMD9L:NM_001350084:exon6:c.T286C:p.S96P	Ataxia-pancytopenia syndrome, Autosomal dominant	436	1084	2	0	0	2	0.000921659	.	.	.	736348	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.012	.	0.0089	0.00838658	0.0023	0.0260	0.0007	0	0	2.998e-05	0.0011	0	0.002238	346	154602	rs60838691	0.0007	0.0007	0.0007	0.0006	0.0247	0.0006	0.0006	0.0233	0.0228	0.0247	0.0009	0	0	0	0.0005	1.709e-05	0.0015	1.159e-05	0.0075	0.0075	0.0080	0.0070	0.0260	0.0072	0.0070	0.0247	0.0241	0.0260	0	0.0031	0	0	0	0	0.0001	0.0062	0	0.077	0.34095	T	0.143	0.33219	T	0.001	0.22967	B	0.004	0.19653	B	0.283462	0.14901	N	0.555820	1	0.08975	N	1.735	0.44892	L	2.36	0.16089	T	-1.03	0.27052	N	0.099	0.13769	-1.0362	0.18481	T	0.013	0.05033	T	10	0.0043650866	0.00089	T	.	.	.	0.012	0.01476	.	.	0.270889551736	0.26708	0.18906859140192242	0.18824	0.41185196573	0.41935	0.297449052334	0.10022	T	0.004821	0.04238	T	-0.690157	0.00042	T	-0.745886	0.03649	T	0.000462337337337337	0.00004	T	0.291871	0.05709	T	0.0691692	0.15131	0.07761991	0.17308	0.061570685	0.12763	0.08594633	0.19880	-4.19	0.26607	T	.	.	0.079	0.11461	B	.;.;.;.	.;.;.;.	1.035471	0.14157	10.73	0.98762344551853176	0.45831	0.08750	0.14633	N	AEFBI	0.089220	0.18085	N	-0.885221126112405	0.11194	0.5388585	-0.945588944529364	0.11026	0.5591675	0.00295674901039246	0.09827	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.635551	0.53088	0	.	.	4.68	0.992	0.18937	-0.077000	0.11356	0.989000	0.23179	0.567000	0.28720	0.000000	0.06391	0.010000	0.20010	0.004000	0.06068	0.6538:0.0:0.3462:0.0	8.512	0.32385	812	0.42537	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001512	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1807.33	41	chr7	93135686	.	A	G	1807.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.433;DP=816;ExcessHet=0;FS=1.379;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.897;SOR=0.572	GT:AD:DP:GQ:PL	0/1:63,67:130:99:1821,0,1713	18	0	1	0
chr7	95592856	95592856	A	G	exonic	PDK4	.	nonsynonymous SNV	PDK4:NM_002612:exon4:c.T433C:p.C145R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00659785767961	.	0.000199681	1.649e-05	0	0	0	0	3e-05	0	0	1.94e-05	3	154602	rs538664118	2.055e-05	2.052e-05	1.5e-05	2.616e-05	3.482e-05	1.458e-05	1.265e-05	1.379e-05	1.152e-05	0	0	0	0	5.622e-05	0	2.072e-05	1.658e-05	3.482e-05	1.314e-05	1.312e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.471e-05	0	0	0.382	0.11120	T	0.37	0.16473	T	0.0	0.02946	B	0.0	0.01387	B	0.000008	0.62929	D	0.176222	0.992898	0.23807	N	-0.695	0.01866	N	1.67	0.27331	T	0.5	0.02945	N	0.616	0.63204	-1.0396	0.17434	T	0.028	0.11838	T	10	0.28617668	0.46200	T	0.006598	0.17415	T	0.143	0.38195	0.566	0.68768	0.389750110748	0.38591	0.5800062812442394	0.57929	0.192581990809	0.21586	0.51345038414	0.40705	T	0.061123	0.31569	T	-0.162166	0.26428	T	-0.455231	0.27120	T	0.403162717819214	0.29061	T	0.913709	0.69301	D	0.7402161	0.80305	0.39278656	0.64015	0.7402161	0.80306	0.39278656	0.64014	-4.071	0.24861	T	.	.	0.136	0.29642	B	.	.	3.711879	0.53000	23.3	0.93279466259188271	0.22982	0.82132	0.41407	D	AEFGBCI	0.933531	0.92556	D	-0.275238181170142	0.30107	1.675763	-0.000231536914673057	0.39707	2.358343	0.999999996388682	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.54	4.32	0.50899	6.259000	0.72455	6.745000	0.56495	0.756000	0.94297	0.995000	0.38783	0.962000	0.29361	0.993000	0.69303	0.8686:0.1314:0.0:0.0	13.251	0.59481	889	0.27310	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1793.33	35	chr7	95592856	.	A	G	1793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.637;DP=840;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.098;SOR=0.719	GT:AD:DP:GQ:PL	0/1:85,80:165:99:1807,0,2150	18	0	1	0
chr7	98231931	98231931	T	C	exonic	TECPR1	.	nonsynonymous SNV	TECPR1:NM_015395:exon13:c.A1847G:p.Q616R	.	415	1086	21	0	0	21	0.00957592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00881772081889	0.0006	0.000798722	0.0009	0.0001	0.0013	0.0001	0	0.0013	0.0047	0.0001	0.000815	126	154602	rs200666526	0.0008	0.0008	0.0007	0.0009	0.0328	0.0008	0.0007	0.0289	0.0275	0.0010	0.0018	0.0075	2.519e-05	0.0001	0.0328	0.0005	0.0019	0.0002	0.0009	0.0009	0.0007	0.0010	0.0022	0.0007	0.0007	0.0016	0.0014	0.0001	0	0.0022	0.0089	0	0	0.0340	0.0006	0.0024	0.0008	0.61	0.05468	T	0.619	0.07468	T	0.462	0.36386	P	0.065	0.27321	B	0.000001	0.84330	D	0.056675	0.828148	0.34877	D	1.425	0.35738	L	1.59	0.28836	T	-0.46	0.14978	N	0.662	0.67132	-1.0275	0.21266	T	0.062	0.25994	T	10	0.013862371	0.00293	T	0.008818	0.23269	T	0.100	0.28662	.	.	0.424313518543	0.42050	0.6212498546811588	0.62057	0.309223776046	0.33236	0.549592912197	0.45801	T	0.021553	0.16761	T	-0.368161	0.03688	T	-0.326241	0.41887	T	0.0416783035334119	0.03997	T	0.868113	0.56980	D	0.16995272	0.37541	0.165263	0.38241	0.16995272	0.37541	0.165263	0.38240	-8.864	0.66817	D	.	.	0.122	0.25560	B	.	.	2.874526	0.38022	20.6	0.79589494619206147	0.12810	0.81879	0.41197	D	AEFDBCI	0.424505	0.48965	N	0.00497638785586558	0.42082	2.52884	0.1456061152696	0.46910	2.929386	0.997809960966669	0.36050	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	4.082000	0.57357	4.889000	0.45745	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:0.0:0.0:1.0	14.933	0.70577	784	0.47045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019637	0.010101	0.024457	0.052632	0.000000	0.034483	0.003049	0.000000	0.02632	1277.33	40	chr7	98231931	.	T	C	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.48;DP=743;ExcessHet=0;FS=1.891;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-1.091;SOR=0.501	GT:AD:DP:GQ:PL	0/1:27,58:85:99:1291,0,597	18	0	1	0
chr7	99434948	99434948	G	A	exonic	ATP5MF-PTCD1;PTCD1	.	nonsynonymous SNV	PTCD1:NM_015545:exon2:c.C295T:p.R99W,ATP5MF-PTCD1:NM_001198879:exon3:c.C442T:p.R148W	.	400	1120	2	0	0	2	0.000892061	.	.	.	215373	not_specified	MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.638	0.262661937872	0.0002	.	0.0002	0	8.637e-05	0	0	0.0003	0	0	0.0001488	23	154602	rs201365604	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	0	0.0001	0.0013	7.557e-05	0	0.0014	0.0001	0.0004	5.797e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.152e-05	7.706e-05	0.0001	8.875e-05	4.827e-05	0	0.0001	0.0012	0	0	0	0.0002	0	0	0.001	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999894	0.50595	D	2.615	0.76484	M	-0.68	0.91019	T	-4.94	0.94958	D	0.761	0.75927	0.770	0.94038	D	0.832	0.94352	D	10	0.57133293	0.65336	D	0.262662	0.89570	D	0.638	0.86181	.	.	0.987173889608	0.98703	0.6688917812345584	0.66827	0.509973532832	0.49129	0.488442182541	0.37222	T	0.136792	0.46937	T	0.178501	0.71906	D	0.316188	0.88930	D	0.47744208574295	0.31804	T	0.910709	0.70760	D	0.40695307	0.61211	0.37428138	0.62597	0.40695307	0.61212	0.37428138	0.62597	-11.319	0.81378	D	.	.	0.285	0.60751	B	.;.;.;.;.	.;.;.;.;.	4.525665	0.71002	25.6	0.99907702742454452	0.97801	0.94654	0.61875	D	AEFBI	0.666696	0.63507	D	0.414182717814472	0.62200	4.432306	0.308640494426258	0.56046	3.76759	0.00194152590693704	0.09028	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.674467	0.66132	0	.	.	5.97	2.85	0.32333	2.193000	0.42291	4.494000	0.43583	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.758000	0.36073	0.0:0.0:0.3101:0.6899	14.107	0.64628	394	0.83065	.;.;.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1355.33	37	chr7	99434948	.	G	A	1355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.46;DP=811;ExcessHet=0;FS=1.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=1.21;SOR=0.833	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1369,0,1466	18	0	1	0
chr7	99665274	99665274	A	T	exonic	CYP3A5	.	nonsynonymous SNV	CYP3A5:NM_000777:exon7:c.T562A:p.S188T,CYP3A5:NM_001291829:exon8:c.T223A:p.S75T,CYP3A5:NM_001291830:exon8:c.T532A:p.S178T	.	560	961	1	0	0	1	0.000520021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0103023343054	0.0002	.	0.0002	0	8.646e-05	0	0	0.0004	0	0	0.0001876	29	154602	rs202148429	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0001	0.0012	0	0	0.0016	0.0001	0.0004	2.319e-05	9.856e-05	9.85e-05	0.0001	8.069e-05	0.0002	6.007e-05	4.88e-05	0.0001	7.894e-05	0	0	6.547e-05	0.0006	0	0	0	0.0002	0	0	0.03	0.45393	D	0.021	0.58089	D	0.038	0.21002	B	0.032	0.22131	B	0.000178	0.48594	D	0.183655	0.981021	0.81001	D	3.345	0.91022	M	-0.26	0.67187	T	-2.35	0.51968	N	0.273	0.30914	-0.7025	0.60318	T	0.259	0.63021	T	10	0.14477989	0.27471	T	0.010302	0.26676	T	0.175	0.44197	.	.	0.724680275035	0.72224	0.7609015571266714	0.76038	0.20624922112	0.23047	.	.	.	0.041681	0.25939	T	-0.267934	0.11989	T	-0.320924	0.42474	T	0.0815255383413506	0.10181	T	0.769823	0.39947	T	0.5144722	0.67941	0.5064981	0.71478	0.5144722	0.67942	0.5064981	0.71478	-10.986	0.79582	D	.	.	0.200	0.42390	B	.	.	2.334688	0.29912	18.27	0.9597973327737801	0.28354	0.74907	0.36656	D	AEFGBCIJ	0.435014	0.49583	N	-0.30503238458516	0.28955	1.601575	-0.286524330831977	0.28541	1.592208	0.999961042596158	0.48965	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.83	2.64	0.30504	2.107000	0.41468	-1.073000	0.06414	0.756000	0.94297	0.927000	0.32177	0.000000	0.08366	0.392000	0.26603	0.8068:0.1932:0.0:0.0	8.686	0.33398	78	0.96748	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	3434.33	33	chr7	99665274	.	A	T	3434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.91;DP=899;ExcessHet=0;FS=2.041;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=1.31;SOR=0.578	GT:AD:DP:GQ:PL	0/1:131,135:266:99:3448,0,3443	18	0	1	0
chr7	100095805	100095805	G	C	exonic	MCM7	.	nonsynonymous SNV	MCM7:NM_001278595:exon10:c.C1036G:p.Q346E,MCM7:NM_182776:exon10:c.C1036G:p.Q346E,MCM7:NM_005916:exon11:c.C1564G:p.Q522E	.	.	.	.	.	.	.	.	.	.	.	3288876	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.00448896011619	0.0006	0.000199681	6.876e-05	0.0006	0	0.0002	0	0	0	0	5.82e-05	9	154602	rs139765463	3.04e-05	3.215e-05	3.155e-05	2.923e-05	0.0010	2.304e-05	2.052e-05	0.0007	0.0006	0.0010	2.255e-05	3.884e-05	2.536e-05	0	0	9.047e-07	0.0001	0	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0005	0.0004	0.0006	0	0.0004	0	0	0	0	0	0.0005	0	0.014	0.59928	D	0.028	0.56192	D	0.96	0.55278	D	0.814	0.58796	P	0.000142	0.49130	D	0.148965	1	0.81001	D	2.265	0.64440	M	2.81	0.10975	T	-2.44	0.53420	N	0.493	0.54671	-1.2214	0.00049	T	0.063	0.26065	T	10	0.19689298	0.35599	T	0.004489	0.11031	T	0.188	0.46444	.	.	0.51721326083	0.51363	0.7016051214807674	0.70101	0.56785414273	0.53028	0.574732542038	0.49345	T	0.173458	0.52233	T	-0.238423	0.15550	T	-0.198287	0.54808	T	0.14235311911257	0.16475	T	0.979152	0.92959	D	0.80693775	0.84353	0.67920387	0.81154	0.80693775	0.84354	0.67920387	0.81155	-12.023	0.85967	D	0.5270819726202463	0.59848	0.198	0.50044	B	.;.;.	.;.;.	4.325122	0.66232	24.9	0.99498959862173908	0.67916	0.98989	0.89614	D	AEFDBCI	0.941955	0.94591	D	0.76190637916767	0.83676	8.080687	0.773872212671137	0.87922	9.393576	1.0	0.98316	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.43	5.43	0.79006	5.766000	0.68494	11.786000	0.96242	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	16.769	0.85392	176	0.93188	.;.;MCM domain|MCM domain|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	885.33	43	chr7	100095805	.	G	C	885.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=766;ExcessHet=0;FS=0.909;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-2.453;SOR=0.91	GT:AD:DP:GQ:PL	0/1:41,33:74:99:899,0,1065	18	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	18116.3	121	chr7	100175805	.	G	C	18116.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.889;DP=2073;ExcessHet=38.2876;FS=367.033;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.937;SOR=13.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:73,50:127:99:.:.:1502,0,2180:.	1	0	18	0
chr7	100180567	100180567	C	T	exonic	STAG3	.	nonsynonymous SNV	STAG3:NM_001282716:exon2:c.C11T:p.P4L,STAG3:NM_001282717:exon2:c.C11T:p.P4L,STAG3:NM_001282718:exon2:c.C11T:p.P4L,STAG3:NM_001375438:exon2:c.C11T:p.P4L,STAG3:NM_012447:exon2:c.C11T:p.P4L	Premature ovarian failure 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3186416	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.115	0.0122415012706	0.0007	0.000199681	0.0001	0.0010	0	0.0002	0	4.5e-05	0	0	0.0001035	16	154602	rs140021945	4.4e-05	4.857e-05	4.655e-05	4.142e-05	0.0012	3.526e-05	3.209e-05	0.0009	0.0008	0.0012	8.946e-05	0	0	0	0	1.086e-05	0.0001	0	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	0.0004	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.943	0.53072	P	0.276	0.40142	B	0.611521	0.10862	N	0.772552	0.999972	0.18612	N	1.79	0.46772	L	1.87	0.34452	T	-1.56	0.92605	N	0.213	0.29889	-0.9432	0.42105	T	0.102	0.37768	T	10	0.027985752	0.00936	T	0.012242	0.30635	T	0.115	0.32236	.	.	0.404453528171	0.40057	0.3122344651920992	0.31136	0.46583218784	0.46004	0.35994669795	0.19378	T	0.160089	0.50379	T	-0.427215	0.01541	T	-0.426974	0.30279	T	0.0691328216587927	0.08529	T	0.669833	0.27843	T	0.15994355	0.35901	0.20115946	0.44083	0.15994355	0.35900	0.20115946	0.44082	-2.719	0.07865	T	.	.	0.091	0.42007	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.098169	0.41745	21.4	0.97189959453006003	0.32762	0.15622	0.19001	N	AEFBCI	0.118563	0.23179	N	-0.164319893925543	0.34628	1.979	-0.293255476983981	0.28319	1.578192	0.999988079586775	0.51787	0.495158	0.18159	0	0.616935	0.53198	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	4.56	4.56	0.55644	1.758000	0.38039	2.805000	0.34874	0.465000	0.21702	0.035000	0.20724	0.895000	0.27885	0.046000	0.14843	0.0:1.0:0.0:0.0	13.042	0.58314	281	0.88893	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1718.33	36	chr7	100180567	.	C	T	1718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.534;DP=784;ExcessHet=0;FS=2.836;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.625;SOR=0.485	GT:AD:DP:GQ:PL	0/1:82,74:156:99:1732,0,1895	18	0	1	0
chr7	100416308	100416308	C	G	exonic	ZCWPW1	.	nonsynonymous SNV	ZCWPW1:NM_001258008:exon7:c.G628C:p.A210P,ZCWPW1:NM_017984:exon7:c.G628C:p.A210P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0139127086188	.	.	1.656e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs768069661	7.53e-06	8.688e-05	6.812e-06	8.256e-06	9.899e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.899e-06	0	0	6.579e-06	6.569e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.017	0.64786	D	0.981	0.68779	D	0.77	0.65999	P	0.126267	0.02769	N	1.915940	1	0.08975	N	2.295	0.65404	M	0.44	0.57575	T	-1.52	0.51157	N	0.105	0.18649	-0.9651	0.38191	T	0.211	0.57134	T	9	0.07359043	0.11990	T	0.013913	0.33663	T	0.160	0.41473	0.167	0.07186	0.0846915920261	0.08053	0.2553416396724554	0.25448	0.235566991127	0.26085	0.326068282127	0.14340	T	0.032045	0.22312	T	-0.244567	0.14771	T	-0.363378	0.37660	T	0.256688277327145	0.23170	T	0.49905	0.36376	T	0.28358757	0.51390	0.2510205	0.50705	0.28358757	0.51390	0.2510205	0.50704	-4.084	0.25054	T	.	.	0.131	0.29004	B	.;.;.	.;.;.	2.654947	0.34573	19.67	0.99736852657666464	0.83192	0.04517	0.10144	N	AEFDI	0.143022	0.26562	N	-0.221500259265149	0.32253	1.816927	-0.35189881764483	0.26449	1.461059	0.00411306419695172	0.10422	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.27	2.0	0.25495	-0.453000	0.06853	-0.115000	0.11785	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.958000	0.51230	0.2112:0.5376:0.0:0.2512	3.297	0.06560	453	0.79178	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	40.39	63	chr7	100416308	.	C	G	40.39	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-2.572;DP=1385;ExcessHet=0.3672;FS=206.453;InbreedingCoeff=-0.1037;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=0.813;SOR=10.876	GT:AD:DP:GQ:PL	0/1:52,22:74:25:25,0,986	15	0	3	1
chr7	100607979	100607979	G	A	exonic	PCOLCE	.	nonsynonymous SNV	PCOLCE:NM_002593:exon9:c.G1226A:p.G409D	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	.	0.0095	0.0107827	0.0028	0.0314	0.0009	0	0	1.5e-05	0.0022	0.0001	0.002749	425	154602	rs35142716	0.0010	0.0010	0.0011	0.0008	0.0363	0.0009	0.0009	0.0346	0.0339	0.0363	0.0015	0	0	0	0.0005	1.169e-05	0.0020	0.0001	0.0099	0.0099	0.0100	0.0098	0.0344	0.0095	0.0093	0.0329	0.0323	0.0344	0	0.0038	0	0	0	0.0034	4.41e-05	0.0062	0.0002	0.023	0.48186	D	0.024	0.56640	D	0.768	0.43819	P	0.548	0.49136	P	0.085985	0.20611	N	0.524166	0.989148	0.40895	D	1.79	0.46772	L	1.96	0.22270	T	-1.51	0.36787	N	0.142	0.14196	-1.1497	0.01034	T	0.016	0.06521	T	10	0.00378415	0.00071	T	.	.	.	0.093	0.26882	.	.	0.102598925029	0.09809	0.5138680927142056	0.51308	0.445717174749	0.44459	0.392895489931	0.24077	T	0.103416	0.41205	T	-0.53203	0.00374	T	-0.511933	0.21116	T	0.0187412111330693	0.00586	T	0.59644	0.22167	T	0.105177574	0.24866	0.17324157	0.39637	0.105177574	0.24865	0.17324157	0.39636	-3.533	0.16897	T	.	.	0.219	0.44986	B	.	.	2.784484	0.36587	20.3	0.99774652055633073	0.86174	0.77695	0.38231	D	AEFBI	0.637233	0.61609	D	0.14047457694591	0.48361	3.049367	0.161740776979056	0.47768	3.002052	0.997782888574112	0.36027	0.706298	0.61202	0	0.659912	0.62753	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.04	3.05	0.34272	1.943000	0.39880	7.425000	0.58746	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.339000	0.25409	0.0:0.0:0.6687:0.3313	11.207	0.48006	693	0.58582	Netrin module, non-TIMP type|Netrin domain|Netrin module, non-TIMP type|Procollagen C-endopeptidase enhancer, NTR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1565.33	34	chr7	100607979	.	G	A	1565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.063;DP=786;ExcessHet=0;FS=6.136;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.585;SOR=0.853	GT:AD:DP:GQ:PL	0/1:86,62:148:99:1579,0,2347	18	0	1	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	53133.8	110	chr7	100773854	.	G	*	53133.8	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.49;DP=2033;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=27;ReadPosRankSum=0.396;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,60:111:99:0|1:100773851_A_G:2355,0,1957:100773851	15	0	4	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7294.67	944	chr7	100952945	.	C	*	7294.67	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.282;DP=12658;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=14;MLEAF=0.368;MQ=57.98;MQRankSum=-8.296;QD=0.58;ReadPosRankSum=2.64;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:453,135:666:99:0|1:100952784_C_A:4305,0,18615:100952784	5	0	14	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	17482.0	771	chr7	100953156	.	C	*	17482.0	.	AC=12;AF=0.316;AN=38;BaseQRankSum=7.09;DP=10360;ExcessHet=48.2876;FS=8.453;InbreedingCoeff=-1;MLEAC=12;MLEAF=0.316;MQ=57.49;MQRankSum=-15.74;QD=1.71;ReadPosRankSum=0.097;SOR=1.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:447,103:612:99:0|1:100953098_G_C:2979,0,18459:100953098	7	0	12	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	1350.84	756	chr7	100953158	.	G	*	1350.84	.	AC=17;AF=0.447;AN=38;BaseQRankSum=3.94;DP=10155;ExcessHet=48.2876;FS=12.382;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.51;MQRankSum=-16.03;QD=0.14;ReadPosRankSum=0.292;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:446,100:604:99:.:.:2856,0,18426:.	2	0	17	0
chr7	100955762	100955762	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C3983A:p.T1328N	.	896	620	5	1	0	7	0.00561347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214958271	5.682e-05	0.0008	5.395e-05	5.961e-05	0.0004	3.408e-05	2.801e-05	6.753e-05	2.83e-05	0.0001	0.0002	0	0	0	0	4.124e-05	0.0002	0.0004	0.0001	0.0020	8.197e-05	0.0001	0.0003	5.702e-05	4.262e-05	8.522e-05	4.5e-05	0.0001	0	0.0003	0	0	0	0	6.966e-05	0.0008	0	.	.	.	0.261	0.22962	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05929	.	.	.	.	.	.	.	0.059814572	0.07250	T	.	.	.	.	.	.	.	.	.	0.014401527505176325	0.01397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266973	0.04402	T	.	.	.	.	.	.	.	.	-7.856	0.60085	D	.	.	0.136	0.29588	B	.;.	.;.	-0.671401	0.01388	0.080	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.660000	0.00449	-9.811000	0.00774	-0.395000	0.05324	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	1979.47	467	chr7	100955762	.	C	A	1979.47	.	AC=2;AF=0.111;AN=18;BaseQRankSum=5.71;DP=10134;ExcessHet=0.119;FS=8.212;InbreedingCoeff=-0.2258;MLEAC=3;MLEAF=0.167;MQ=59.21;MQRankSum=-18.51;QD=1.79;ReadPosRankSum=-2.775;SOR=1.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:466,65:531:99:0|1:100955740_G_A:1327,0,19321:100955740	7	0	2	10
chr7	100955779	100955779	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4000G:p.P1334A	.	1102	405	8	1	6	16	0.0121951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1313584776	0.0003	0.0013	0.0001	0.0005	0.0020	0.0002	0.0002	0.0002	0.0001	0.0004	0.0007	0	0	0.0007	0.0020	0.0003	0.0004	0	0.0007	0.0059	0.0005	0.0008	0.0013	0.0005	0.0004	0.0006	0.0004	0.0008	0.0032	0.0013	0.0008	0	0.0009	0	0.0004	0.0014	0	.	.	.	0.336	0.18449	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.031654388	0.01303	T	.	.	.	.	.	.	.	.	.	0.010190083516641869	0.00981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248875	0.04334	T	.	.	.	.	.	.	.	.	-2.749	0.07724	T	.	.	0.066	0.02065	B	.;.	.;.	-0.602833	0.01564	0.103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.412000	0.02582	-2.564000	0.03604	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3321.95	467	chr7	100955779	.	C	G	3321.95	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.098;DP=11451;ExcessHet=0.119;FS=12.89;InbreedingCoeff=-0.2881;MLEAC=4;MLEAF=0.333;MQ=58.94;MQRankSum=-20.51;QD=2.81;ReadPosRankSum=1.51;SOR=1.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:496,93:589:99:0|1:100955740_G_A:2412,0,20547:100955740	4	0	2	13
chr7	100955783	100955783	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4004A:p.T1335K	.	931	584	6	1	0	8	0.00680272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1353275951	8.032e-05	0.0016	5.446e-05	0.0001	0.0007	5.355e-05	4.472e-05	3.205e-05	2.39e-05	0.0001	0.0001	0	0	0.0003	0.0007	5.953e-05	5.806e-05	0.0002	0.0008	0.0049	0.0007	0.0009	0.0014	0.0006	0.0005	0.0008	0.0006	0.0010	0.0026	0.0014	0.0007	0	0.0009	0	0.0005	0.0012	0.0005	.	.	.	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.12055	.	.	.	.	.	.	.	0.047530502	0.04083	T	.	.	.	.	.	.	.	.	.	0.027707913494658065	0.02720	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214079	0.02639	T	.	.	.	.	.	.	.	.	-4.934	0.36115	T	.	.	0.159	0.35119	B	.;.	.;.	0.086628	0.04912	1.492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.529000	0.02327	-4.631000	0.02060	-2.911000	0.00159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3705.95	467	chr7	100955783	.	C	A	3705.95	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.64;DP=11803;ExcessHet=0.1259;FS=10.494;InbreedingCoeff=-0.2881;MLEAC=4;MLEAF=0.333;MQ=58.84;MQRankSum=-21.05;QD=3.08;ReadPosRankSum=2.26;SOR=1.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:501,102:603:99:0|1:100955740_G_A:2775,0,20730:100955740	4	0	2	13
chr7	100956781	100956781	T	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.T5002G:p.S1668A	.	860	661	1	0	0	1	0.000755858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs944543324	0.0015	0.0008	0.0016	0.0014	0.0313	0.0014	0.0013	0.0279	0.0267	0.0313	0.0038	0.0001	0	0	0.0029	0.0002	0.0053	0	0.0072	0.0097	0.0077	0.0067	0.0248	0.0069	0.0067	0.0235	0.0230	0.0248	0	0.0039	0	0	0	0	0.0002	0.0062	0	.	.	.	0.423	0.13993	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.07398	.	.	.	.	.	.	.	0.0055915117	0.00124	T	.	.	.	.	.	.	.	.	.	0.0036468178045043565	0.00341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167283	0.01556	T	.	.	.	.	.	.	.	.	-7.725	0.59699	D	.	.	0.095	0.14706	B	.;.	.;.	-0.269689	0.02752	0.369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.024000	0.00103	-20.000000	0.00162	-0.348000	0.05616	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2164.33	576	chr7	100956781	.	T	G	2164.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.34;DP=8862;ExcessHet=0;FS=1.364;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.8;MQRankSum=1.07;QD=5.02;ReadPosRankSum=-1.258;SOR=0.828	GT:AD:DP:GQ:PL	0/1:336,95:431:99:2178,0,10030	18	0	1	0
chr7	100956968	100956968	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C5189T:p.T1730I	.	856	664	2	0	0	2	0.00150376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs965754241	0.0014	0.0008	0.0015	0.0013	0.0307	0.0013	0.0013	0.0274	0.0261	0.0307	0.0036	0.0001	0	0	0.0032	0.0002	0.0050	0	0.0077	0.0097	0.0081	0.0074	0.0264	0.0074	0.0072	0.0251	0.0246	0.0264	0	0.0039	0	0	0	0	0.0002	0.0071	0.0002	.	.	.	0.05	0.48080	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	0.005089104	0.00110	T	.	.	.	.	.	.	.	.	.	0.030267163852422653	0.02975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248875	0.03843	T	.	.	.	.	.	.	.	.	-5.658	0.43800	T	.	.	0.193	0.41264	B	.;.	.;.	0.734185	0.11034	7.690	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.078000	0.30365	-2.045000	0.04296	0.431000	0.20936	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	.	.	.	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4587.33	718	chr7	100956968	.	C	T	4587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.119;DP=10530;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.1;ReadPosRankSum=0.359;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:533,219:752:99:0|1:100956968_C_T:4601,0,18857:100956968	18	0	1	0
chr7	100959905	100959905	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C8126A:p.S2709Y	.	404	1116	2	0	0	2	0.000895255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0087	0.0117812	0.0032	0.0316	0.0051	0	0	0.0003	0.0028	0.0001	0.0026455	409	154602	rs113556743	0.0012	0.0012	0.0013	0.0010	0.0334	0.0011	0.0011	0.0317	0.0310	0.0334	0.0038	0.0001	0	0	0.0059	0.0002	0.0036	6.886e-05	0.0078	0.0097	0.0080	0.0075	0.0266	0.0074	0.0073	0.0253	0.0248	0.0266	0	0.0039	0	0	0	0	0.0002	0.0071	0.0002	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.12484	-1.0035	0.28903	T	0.009	0.03271	T	8	0.0030370355	0.00050	T	.	.	.	.	.	.	.	0.262662153117	0.25859	0.023389138063516585	0.02290	.	.	0.23295289278	0.02194	T	.	.	.	-0.153333	0.27790	T	-0.458028	0.26813	T	0.0279380984340737	0.01680	T	0.483352	0.14674	T	0.07446282	0.16711	0.10281069	0.24652	0.07446282	0.16710	0.10281069	0.24651	-6.599	0.51045	T	.	.	0.171	0.37615	B	.;.	.;.	1.947074	0.24733	16.50	0.97520130776065195	0.34400	0.03257	0.08287	N	AEFBI	0.062263	0.11958	N	-0.502779552826535	0.21990	1.171032	-0.728327570768278	0.16257	0.8591508	0.998357177224182	0.36814	0.632932	0.41330	0	0.563428	0.19063	0	0.601832	0.32385	0	0.530356	0.10902	0	.	.	1.3	1.3	0.20778	0.065000	0.14336	0.061000	0.14131	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:1.0:0.0:0.0	8.477	0.32179	808	0.43318	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2121.33	567	chr7	100959905	.	C	A	2121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.051;DP=8218;ExcessHet=0;FS=2.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=-0.175;SOR=0.536	GT:AD:DP:GQ:PL	0/1:372,114:486:99:2135,0,13380	18	0	1	0
chr7	100960529	100960529	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C8750G:p.T2917S	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0089	0.0119808	0.0030	0.0315	0.0051	0	0	0.0002	0.0023	0.0001	0.0026649	412	154602	rs113201572	0.0012	0.0012	0.0014	0.0011	0.0342	0.0012	0.0012	0.0326	0.0319	0.0342	0.0037	0.0001	0	0	0.0059	0.0002	0.0039	6.956e-05	0.0078	0.0097	0.0079	0.0078	0.0267	0.0074	0.0073	0.0254	0.0249	0.0267	0	0.0040	0	0	0	0	0.0002	0.0071	0.0002	.	.	.	0.488	0.11621	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.01999	-1.0019	0.29372	T	0.006	0.02093	T	8	0.00398463	0.00077	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.17947220472306272	0.17866	.	.	0.196509823203	0.00362	T	.	.	.	-0.391596	0.02628	T	-0.800277	0.01896	T	0.00174899185581667	0.00018	T	0.205679	0.02432	T	0.027316174	0.01907	0.037953395	0.03559	0.027316174	0.01906	0.037953395	0.03559	-4.135	0.25804	T	.	.	0.104	0.18869	B	.;.	.;.	-0.521270	0.01799	0.140	0.82009776349709973	0.13972	0.01430	0.04814	N	AEFDBI	0.065931	0.12887	N	-1.0925312850489	0.06780	0.3130877	-1.23241554967857	0.05396	0.25703	0.00393243710651931	0.10346	0.569682	0.32691	0	0.563428	0.19063	0	0.657636	0.52715	0	0.530356	0.10902	0	.	.	1.79	-0.414	0.11743	-2.239000	0.01281	-9.963000	0.00755	-0.319000	0.05888	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2382:0.5976:0.0:0.1642	3.684	0.07855	808	0.43318	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3136.33	839	chr7	100960529	.	C	G	3136.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.281;DP=11034;ExcessHet=0;FS=2.057;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.85;ReadPosRankSum=1.72;SOR=0.911	GT:AD:DP:GQ:PL	0/1:484,163:647:99:3150,0,17589	18	0	1	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P,LRRC17:NM_005824:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	1131.3	125	chr7	102934283	.	G	C	1131.3	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-5.038;DP=2763;ExcessHet=4.0268;FS=178.434;InbreedingCoeff=-0.28;MLEAC=8;MLEAF=0.222;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=0.387;SOR=11.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:140,52:192:99:.:.:368,0,3409:.	10	0	8	1
chr7	108189677	108189677	G	T	exonic	NRCAM	.	nonsynonymous SNV	NRCAM:NM_001371182:exon15:c.C1898A:p.T633N,NRCAM:NM_001371137:exon16:c.C1046A:p.T349N,NRCAM:NM_001371180:exon16:c.C1685A:p.T562N,NRCAM:NM_001371148:exon17:c.C1685A:p.T562N,NRCAM:NM_001371151:exon17:c.C1955A:p.T652N,NRCAM:NM_001371164:exon17:c.C1658A:p.T553N,NRCAM:NM_001371170:exon17:c.C1685A:p.T562N,NRCAM:NM_001371176:exon17:c.C1955A:p.T652N,NRCAM:NM_001371178:exon17:c.C1955A:p.T652N,NRCAM:NM_001371181:exon17:c.C1946A:p.T649N,NRCAM:NM_001371125:exon18:c.C1658A:p.T553N,NRCAM:NM_001371134:exon18:c.C1952A:p.T651N,NRCAM:NM_001371136:exon18:c.C1955A:p.T652N,NRCAM:NM_001371143:exon18:c.C1658A:p.T553N,NRCAM:NM_001371152:exon18:c.C1955A:p.T652N,NRCAM:NM_001371157:exon18:c.C1955A:p.T652N,NRCAM:NM_001371175:exon18:c.C1955A:p.T652N,NRCAM:NM_001371177:exon18:c.C1946A:p.T649N,NRCAM:NM_001371179:exon18:c.C1685A:p.T562N,NRCAM:NM_005010:exon18:c.C1955A:p.T652N,NRCAM:NM_001193583:exon19:c.C1946A:p.T649N,NRCAM:NM_001193584:exon19:c.C1946A:p.T649N,NRCAM:NM_001371119:exon19:c.C1946A:p.T649N,NRCAM:NM_001371122:exon19:c.C1946A:p.T649N,NRCAM:NM_001371124:exon19:c.C1946A:p.T649N,NRCAM:NM_001371129:exon19:c.C1946A:p.T649N,NRCAM:NM_001371130:exon19:c.C1955A:p.T652N,NRCAM:NM_001371133:exon19:c.C1955A:p.T652N,NRCAM:NM_001371135:exon19:c.C1946A:p.T649N,NRCAM:NM_001371140:exon19:c.C1946A:p.T649N,NRCAM:NM_001371142:exon19:c.C1658A:p.T553N,NRCAM:NM_001371145:exon19:c.C1946A:p.T649N,NRCAM:NM_001371146:exon19:c.C1946A:p.T649N,NRCAM:NM_001371147:exon19:c.C1658A:p.T553N,NRCAM:NM_001371150:exon19:c.C1973A:p.T658N,NRCAM:NM_001371154:exon19:c.C1946A:p.T649N,NRCAM:NM_001371158:exon19:c.C1946A:p.T649N,NRCAM:NM_001371159:exon19:c.C1973A:p.T658N,NRCAM:NM_001371160:exon19:c.C1985A:p.T662N,NRCAM:NM_001371171:exon19:c.C1955A:p.T652N,NRCAM:NM_001371172:exon19:c.C1946A:p.T649N,NRCAM:NM_001371174:exon19:c.C1973A:p.T658N,NRCAM:NM_001037132:exon20:c.C2003A:p.T668N,NRCAM:NM_001193582:exon20:c.C2003A:p.T668N,NRCAM:NM_001371123:exon20:c.C2003A:p.T668N,NRCAM:NM_001371126:exon20:c.C1946A:p.T649N,NRCAM:NM_001371127:exon20:c.C2000A:p.T667N,NRCAM:NM_001371132:exon20:c.C1946A:p.T649N,NRCAM:NM_001371138:exon20:c.C2003A:p.T668N,NRCAM:NM_001371139:exon20:c.C1946A:p.T649N,NRCAM:NM_001371141:exon20:c.C1946A:p.T649N,NRCAM:NM_001371149:exon20:c.C2003A:p.T668N,NRCAM:NM_001371156:exon20:c.C2003A:p.T668N,NRCAM:NM_001371161:exon20:c.C2003A:p.T668N,NRCAM:NM_001371162:exon20:c.C1946A:p.T649N,NRCAM:NM_001371166:exon20:c.C1946A:p.T649N,NRCAM:NM_001371167:exon20:c.C1946A:p.T649N,NRCAM:NM_001371169:exon20:c.C2003A:p.T668N,NRCAM:NM_001371173:exon20:c.C2003A:p.T668N,NRCAM:NM_001371128:exon21:c.C2003A:p.T668N,NRCAM:NM_001371131:exon21:c.C2003A:p.T668N,NRCAM:NM_001371144:exon21:c.C2003A:p.T668N,NRCAM:NM_001371153:exon21:c.C2003A:p.T668N,NRCAM:NM_001371155:exon21:c.C1946A:p.T649N,NRCAM:NM_001371163:exon21:c.C1946A:p.T649N,NRCAM:NM_001371165:exon21:c.C1946A:p.T649N,NRCAM:NM_001371168:exon21:c.C2003A:p.T668N	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.0156689958831	.	0.000399361	9.074e-05	0	0	0	0	0	0	0.0007	8.41e-05	13	154602	rs544630338	3.627e-05	7.805e-05	2.616e-05	4.635e-05	0.0005	2.79e-05	2.518e-05	0.0004	0.0003	3.153e-05	0	0	0	0	0	3.852e-06	5.216e-05	0.0005	5.254e-05	5.25e-05	1.285e-05	9.401e-05	0.0015	2.556e-05	1.829e-05	0.0007	0.0005	0	0	0	0	0	0	0	1.47e-05	0	0.0015	0.16	0.34095	T	0.301	0.83351	T	0.029	0.42361	B	0.102	0.52749	B	0.002202	0.37012	N	0.318910	0.986267	0.40405	D	1.92	0.51302	L	0.35	0.58029	T	-2.44	0.55339	N	0.376	0.43899	-0.8051	0.54843	T	0.193	0.54652	T	10	0.09414357	0.16715	T	0.015669	0.36531	T	0.146	0.38789	0.396	0.42262	0.713903964261	0.71139	0.43443815680432457	0.43360	0.288365465645	0.31245	0.388576775789	0.23469	T	0.259413	0.63068	T	-0.394923	0.02499	T	-0.437464	0.29092	T	0.327694684267044	0.26132	T	0.921908	0.72135	D	0.093680754	0.22009	0.1178103	0.28439	0.093680754	0.22009	0.1178103	0.28439	-7.139	0.55093	T	.	.	0.16	0.36174	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.304150	0.65746	24.9	0.99319114551936016	0.59317	0.90350	0.51456	D	AEFGBCI	0.485377	0.52500	N	0.313917721948727	0.56863	3.85174	0.363173863201166	0.59304	4.107218	0.999930177992464	0.46732	0.706548	0.73137	0	0.576064	0.32778	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.18	4.18	0.48473	3.361000	0.52028	7.498000	0.59452	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.3871:0.0:0.6129:0.0	3.352	0.06738	680	0.59965	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1040.33	34	chr7	108189677	.	G	T	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.229;DP=742;ExcessHet=0;FS=2.403;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=0.764;SOR=0.91	GT:AD:DP:GQ:PL	0/1:77,45:122:99:1054,0,2135	18	0	1	0
chr7	116251764	116251764	G	A	exonic	TES	.	nonsynonymous SNV	TES:NM_015641:exon5:c.G707A:p.C236Y,TES:NM_152829:exon5:c.G680A:p.C227Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.975	0.600257099369	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1490374897	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.735	0.99541	H	-5.74	0.99311	D	-6.76	0.92736	D	0.836	0.96187	0.980	0.96855	D	0.988	0.99644	D	10	0.992793	0.99814	D	0.600257	0.96478	D	0.984	0.99918	0.957	0.99536	0.99310936875	0.99303	0.9178633397242868	0.91762	0.52805192639	0.50397	0.616737127304	0.55268	T	0.909799	0.98292	D	0.583388	0.97063	D	0.60022	0.97015	D	0.999000012874603	0.95858	D	0.890111	0.62362	D	0.88600963	0.90168	0.86841595	0.92756	0.88600963	0.90169	0.86841595	0.92756	-11.908	0.85703	D	.	.	0.996	0.95995	P	.;.	.;.	5.140066	0.86053	28.8	0.9567779986515792	0.27534	0.99689	0.98687	D	AEFBI	0.945836	0.95460	D	0.961212327174651	0.94421	12.74425	0.808947723895355	0.90408	10.39398	0.99999999999713	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	3.94	3.94	0.44807	9.248000	0.94623	8.840000	0.78299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	16.306	0.82679	722	0.55239	Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Testin, LIM domain 1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	939.33	35	chr7	116251764	.	G	A	939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.364;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=2.07;SOR=0.679	GT:AD:DP:GQ:PL	0/1:38,34:72:99:953,0,1049	18	0	1	0
chr7	123662148	123662148	G	C	exonic	LMOD2	.	nonsynonymous SNV	LMOD2:NM_207163:exon2:c.G562C:p.A188P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.130250022939	0.0005	0.00199681	0.0002	0.0026	0	0	0	0	0	6.862e-05	0.0002329	36	154602	rs190331368	5.611e-05	5.609e-05	6.536e-05	4.677e-05	0.0021	4.611e-05	4.238e-05	0.0017	0.0015	0.0021	0	0	0	0	0.0003	0	0.0001	2.322e-05	0.0005	0.0005	0.0005	0.0005	0.0018	0.0004	0.0004	0.0015	0.0013	0.0018	0	0	0	0	0	0	0	0.0005	0	0.087	0.32453	T	0.23	0.25135	T	0.612	0.39723	P	0.261	0.39516	B	.	.	.	.	0.99041	0.41154	D	1.245	0.31408	L	-3.15	0.92938	D	-0.61	0.18042	N	0.226	0.25377	-0.1886	0.77963	T	0.506	0.81387	D	9	0.007363498	0.00167	T	0.13025	0.81240	D	0.435	0.74022	.	.	0.623449827247	0.62038	0.2677174066949757	0.26684	0.230222229105	0.25573	0.32165646553	0.13673	T	0.002162	0.01566	T	-0.228708	0.16819	T	-0.108084	0.62763	T	0.0281890556210216	0.01716	T	0.734227	0.35027	T	0.07103386	0.15694	0.14208621	0.33814	0.07103386	0.15694	0.14208621	0.33813	-2.858	0.08730	T	.	.	0.133	0.28636	B	.	.	1.687561	0.21502	15.23	0.99030458054395321	0.50786	0.46719	0.27822	N	AEFGBCI	0.398028	0.47387	N	-0.594028870437228	0.19126	0.9985122	-0.593581522162109	0.19659	1.055783	0.993971065078956	0.33434	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.08	2.91	0.32903	2.560000	0.45559	5.721000	0.49471	-0.169000	0.11342	0.971000	0.34370	1.000000	0.68203	0.944000	0.48669	0.1197:0.0:0.7306:0.1497	9.012	0.35308	731	0.54177	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2474.33	38	chr7	123662148	.	G	C	2474.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.011;DP=822;ExcessHet=0;FS=5.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.231;SOR=0.424	GT:AD:DP:GQ:PL	0/1:85,98:183:99:2488,0,2298	18	0	1	0
chr7	124032233	124032233	G	C	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.C771G:p.F257L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0047950053786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497	0.07821	T	0.437	0.13441	T	0.183	0.29179	B	0.146	0.33945	B	.	.	.	.	0.568318	0.32272	D	0.8	0.19659	N	1.91	0.23283	T	0.19	0.04947	N	0.218	0.24385	-1.0411	0.16981	T	0.041	0.17785	T	9	0.13738275	0.26134	T	0.004795	0.11973	T	0.015	0.02232	0.289	0.24921	0.166414681773	0.16258	0.6202296138219102	0.61955	.	.	0.594847142696	0.52177	T	2.67E-4	0.00060	T	-0.19212	0.21947	T	-0.513744	0.20931	T	0.714289486408234	0.41411	D	0.711229	0.32236	T	0.16017962	0.35941	0.23218012	0.48370	0.16017962	0.35941	0.23218012	0.48369	-8.348	0.63418	D	.	.	0.787	0.76696	P	.	.	2.792649	0.36715	20.3	0.98503891405666033	0.42252	0.67896	0.33600	D	AEFBCI	0.275567	0.39050	N	-0.137778583365996	0.35756	2.057881	0.0436798405279419	0.41768	2.514843	0.991521895036836	0.32518	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.43	4.35	0.51454	0.130000	0.15676	6.391000	0.55559	0.676000	0.76740	0.976000	0.34826	1.000000	0.68203	0.999000	0.91618	0.1078:0.0:0.8922:0.0	9.959	0.40853	832	0.38914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	54.79	124	chr7	124032233	.	G	C	54.79	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.892;DP=1537;ExcessHet=0;FS=99.948;InbreedingCoeff=-0.0806;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=0.31;ReadPosRankSum=1.35;SOR=6.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,32:174:67:0|1:124032233_G_C:67,0,3611:124032233	15	0	1	3
chr7	124032238	124032238	T	C	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.A766G:p.I256V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00309682352866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.03280	T	0.592	0.08161	T	0.394	0.34702	B	0.12	0.32230	B	.	.	.	.	0.905131	0.27622	N	0.81	0.20779	L	1.18	0.37746	T	0.3	0.04091	N	0.102	0.08506	-1.0447	0.15913	T	0.043	0.18451	T	9	0.08238995	0.13593	T	0.003097	0.06726	T	0.028	0.06331	0.306	0.27646	0.0884992946249	0.08302	0.5384612323208492	0.53771	.	.	0.549685418606	0.45813	T	0.019	0.15464	T	-0.165	0.25994	T	-0.474787	0.25003	T	0.396950924387161	0.28827	T	0.730627	0.34608	T	0.09667316	0.22774	0.14163347	0.33721	0.09667316	0.22774	0.14163347	0.33720	-1.938	0.02956	T	.	.	0.222	0.45323	B	.	.	2.108335	0.26829	17.25	0.91703689414627898	0.20998	0.47574	0.28013	N	AEFBCI	0.167188	0.29384	N	-0.287457512271222	0.29631	1.644968	-0.111154528697024	0.34940	2.015554	0.999416261887452	0.39577	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.43	4.26	0.49832	2.136000	0.41744	4.125000	0.41997	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1789:0.8211	9.465	0.37973	832	0.38914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09375	177.33	129	chr7	124032238	.	T	C	177.33	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-4.117;DP=1728;ExcessHet=0.3672;FS=117.616;InbreedingCoeff=-0.1339;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=1.11;SOR=9.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,31:171:49:0|1:124032233_G_C:49,0,3629:124032233	13	0	3	3
chr7	128030354	128030354	C	T	exonic	LRRC4	.	nonsynonymous SNV	LRRC4:NM_022143:exon2:c.G287A:p.R96H	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.10976006283	.	.	6.604e-05	0	8.649e-05	0	0	1.502e-05	0	0.0004	5.17e-05	8	154602	rs746701145	3.284e-05	3.283e-05	1.089e-05	5.501e-05	0.0005	2.543e-05	2.249e-05	0.0004	0.0003	0	2.236e-05	0	0	1.878e-05	0	8.993e-07	3.312e-05	0.0005	5.913e-05	5.906e-05	6.425e-05	5.376e-05	0.0012	3.077e-05	2.21e-05	0.0005	0.0004	7.221e-05	0	0	0	0	0	0	0	0	0.0012	0.028	0.46129	D	0.009	0.66756	D	0.993	0.65571	D	0.805	0.58399	P	0.003325	0.35096	N	0.179258	1	0.81001	D	1.085	0.27262	L	-2.85	0.91363	D	-2.02	0.46503	N	0.354	0.39558	0.310	0.87722	D	0.664	0.88321	D	10	0.29379004	0.46952	T	0.10976	0.78686	D	0.491	0.77783	0.524	0.62818	0.830267681785	0.82865	0.5239092838062303	0.52314	1.4107314142	0.85442	0.732805132866	0.71916	T	0.181739	0.53351	T	-0.117919	0.33463	T	-0.0709002	0.65562	T	0.32429713010788	0.25995	T	0.957304	0.83911	D	0.32489923	0.55050	0.07498792	0.16460	0.32489923	0.55050	0.07498792	0.16460	-7.034	0.54281	T	.	.	0.128	0.27433	B	.;.	.;.	5.251680	0.88174	29.5	0.99913620999250408	0.98238	0.82096	0.41377	D	AEFDBCI	0.605923	0.59646	D	0.292362714074468	0.55761	3.740214	0.290316432693065	0.54972	3.660936	0.999999997722759	0.74766	0.789315	0.99827	0	0.519925	0.08708	0	0.768056	0.98339	0	0.56751	0.32155	0	.	.	4.66	3.75	0.42236	2.242000	0.42756	4.940000	0.46203	0.599000	0.40250	0.911000	0.31706	1.000000	0.68203	1.000000	0.97212	0.1797:0.8202:0.0:0.0	11.576	0.50119	704	0.57414	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2149.33	41	chr7	128030354	.	C	T	2149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.73;DP=817;ExcessHet=0;FS=0.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=2.37;SOR=0.791	GT:AD:DP:GQ:PL	0/1:64,73:137:99:2163,0,1541	18	0	1	0
chr7	134294915	134294915	A	G	exonic	SLC35B4	.	nonsynonymous SNV	SLC35B4:NM_032826:exon10:c.T914C:p.I305T	.	432	1089	0	1	0	2	0.000917431	.	.	.	3603102	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.0163874130358	7.7e-05	0.000199681	9.884e-05	0.0004	0	0	0	0	0	0.0005	8.41e-05	13	154602	rs200680990	5.267e-05	5.336e-05	3.675e-05	6.875e-05	0.0006	4.277e-05	3.952e-05	0.0005	0.0004	0.0004	0	0	0	0	0	6.295e-06	6.623e-05	0.0006	0.0001	0.0001	8.994e-05	0.0001	0.0010	7.573e-05	6.279e-05	0.0004	0.0003	0.0003	0	0	0	0.0002	0	0	0	0	0.0010	0.389	0.10874	T	0.338	0.18125	T	0.0	0.02946	B	0.001	0.04355	B	0.070247	0.21551	N	0.534254	0.99344	0.23712	N	0.6	0.15550	N	-0.45	0.69896	T	-0.72	0.20358	N	0.061	0.03283	-1.0154	0.25207	T	0.131	0.44208	T	10	0.045710802	0.03673	T	0.016387	0.37623	T	0.067	0.19503	.	.	0.345859378078	0.34197	0.4679568271459479	0.46714	0.311910992098	0.33496	0.344332158566	0.17083	T	0.023173	0.17738	T	-0.431517	0.01451	T	-0.52762	0.19526	T	0.0145938532879398	0.00300	T	0.851715	0.53598	D	0.051011592	0.09304	0.03759854	0.03447	0.051011592	0.09304	0.03759854	0.03447	-5.583	0.42637	T	.	.	0.060	0.00995	B	.	.	1.384512	0.17965	13.47	0.85012668745786857	0.15632	0.60133	0.31109	D	AEFDBI	0.109175	0.21694	N	-0.693922655268364	0.16194	0.8228762	-0.628578785001926	0.18760	1.003603	0.999347243765873	0.39222	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.79	0.33	0.15169	3.179000	0.50587	-0.262000	0.10418	0.756000	0.94297	0.229000	0.24633	0.000000	0.08366	0.964000	0.52637	0.6927:0.1141:0.1932:0.0	6.864	0.23266	899	0.25060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2776.33	90	chr7	134294915	.	A	G	2776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.5;DP=1532;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.075;SOR=0.746	GT:AD:DP:GQ:PL	0/1:95,108:203:99:2790,0,2637	18	0	1	0
chr7	138871176	138871176	C	G	exonic	KIAA1549	.	nonsynonymous SNV	KIAA1549:NM_001164665:exon13:c.G4532C:p.S1511T,KIAA1549:NM_020910:exon13:c.G4532C:p.S1511T	.	422	1098	2	0	0	2	0.000909918	.	.	.	710805	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.045	.	0.0062	0.00638978	0.0024	0.0225	0.0018	0	0	0.0008	0.0035	0.0004	0.0022574	349	154602	rs61744110	0.0012	0.0012	0.0012	0.0012	0.0197	0.0011	0.0011	0.0184	0.0179	0.0197	0.0021	3.827e-05	0	0	0.0062	0.0007	0.0019	0.0007	0.0058	0.0058	0.0060	0.0056	0.0189	0.0055	0.0054	0.0178	0.0174	0.0189	0	0.0023	0.0003	0	0	0.0068	0.0007	0.0052	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.005475	0.32770	N	0.355189	0.999999	0.08975	N	0.32	0.10341	N	1.86	0.24841	T	0.63	0.02404	N	0.232	0.29313	-0.9773	0.35616	T	0.013	0.04985	T	10	0.0048284233	0.00103	T	.	.	.	0.045	0.12272	.	.	0.043077524339	0.03247	0.31701907340603097	0.31614	0.0884479184041	0.10002	0.558503627777	0.47056	T	0.00803	0.07391	T	-0.660773	0.00062	T	-0.706336	0.05486	T	0.00501072861740914	0.00054	T	0.059994	0.00436	T	0.033828728	0.03680	0.05379807	0.09132	0.03416307	0.03779	0.04070703	0.04463	-4.585	0.31982	T	.	.	0.054	0.00328	B	.;.	.;.	1.987999	0.25258	16.70	0.83310096031002956	0.14656	0.12889	0.17541	N	AEFDBHCI	0.046557	0.07744	N	-0.690940295794031	0.16278	0.8279497	-0.456137941560102	0.23374	1.274401	0.99999999648916	0.74766	0.732398	0.92422	0	0.78372	0.99691	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.06	4.17	0.48303	2.604000	0.45938	7.491000	0.59369	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0765:0.2919:0.6316:0.0	8.686	0.33398	728	0.54609	.;.	.	.	.	.	.	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	0.005035	0.015152	0.004076	0.005848	0.000000	0.000000	0.003049	0.007576	0.02632	1046.33	40	chr7	138871176	.	C	G	1046.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.714;DP=742;ExcessHet=0;FS=3.304;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=0.094;SOR=1.179	GT:AD:DP:GQ:PL	0/1:33,40:73:99:1060,0,919	18	0	1	0
chr7	139524043	139524043	G	A	exonic	CLEC2L	.	nonsynonymous SNV	CLEC2L:NM_001080511:exon1:c.G116A:p.R39H,CLEC2L:NM_001353368:exon1:c.G116A:p.R39H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0272041293947	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1323624627	9.498e-07	6.84e-06	0	2.014e-06	1.11e-06	0	0	.	.	0	0	0	0	0	0	1.11e-06	0	0	1.326e-05	1.314e-05	0	2.716e-05	2.422e-05	2.2e-06	8.3e-07	.	.	2.422e-05	0	0	0	0	0	0	1.48e-05	0	0	0.019	0.50132	D	0.166	0.30828	T	0.878	0.48285	P	0.05	0.25278	B	.	.	.	.	0.949888	0.26523	N	0.345	0.11182	N	3.62	0.04399	T	-1.51	0.36787	N	0.138	0.13626	-0.9221	0.45265	T	0.005	0.01761	T	9	0.15259603	0.28820	T	0.027204	0.50045	D	0.058	0.16647	0.29	0.25081	0.215869574891	0.21205	0.18405805559658558	0.18324	0.0811337007811	0.09126	0.919360041618	0.98274	D	0.035616	0.23789	T	-0.220915	0.17869	T	-0.555106	0.16839	T	0.334722700884011	0.26414	T	0.639636	0.25265	T	0.11528963	0.27208	0.12600356	0.30352	0.11528963	0.27208	0.12600356	0.30351	-5.968	0.46011	T	.	.	0.253	0.48777	B	.	.	3.328140	0.45808	22.2	0.99479586138917631	0.66795	0.54915	0.29733	D	AEFDBI	0.086718	0.17583	N	-0.54855129195239	0.20529	1.082888	-0.529978496586328	0.21340	1.153981	0.970308963803062	0.29197	0.59774	0.34471	0	0.657636	0.61667	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	2.96	2.06	0.25932	0.022000	0.13402	6.875000	0.56798	0.504000	0.22967	0.018000	0.19461	1.000000	0.68203	0.636000	0.32315	0.0:0.2559:0.7441:0.0	7.855	0.28637	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	184.82	13	chr7	139524043	.	G	A	184.82	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.589;DP=196;ExcessHet=0;FS=0;InbreedingCoeff=-0.0348;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=20.54;ReadPosRankSum=1.44;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,5:9:99:0|1:139524043_G_A:198,0,153:139524043	17	0	1	1
chr7	140015766	140015766	C	T	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon10:c.C1087T:p.R363C,TBXAS1:NM_001061:exon11:c.C1270T:p.R424C,TBXAS1:NM_001314028:exon11:c.C1213T:p.R405C,TBXAS1:NM_030984:exon11:c.C1270T:p.R424C,TBXAS1:NM_001166253:exon12:c.C1408T:p.R470C,TBXAS1:NM_001166254:exon13:c.C1069T:p.R357C,TBXAS1:NM_001130966:exon15:c.C1270T:p.R424C	Ghosal hematodiaphyseal syndrome, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1613990	TBXAS1-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.216	0.0464478126371	0.0015	0.00159744	0.0008	0.0064	0.0007	0.0001	0	0.0003	0.0022	0	0.0007244	112	154602	rs5762	0.0003	0.0003	0.0003	0.0003	0.0067	0.0003	0.0003	0.0059	0.0057	0.0067	0.0006	0.0027	0.0001	0	0.0012	3.867e-05	0.0009	5.797e-05	0.0019	0.0019	0.0020	0.0019	0.0063	0.0018	0.0017	0.0057	0.0054	0.0063	0	0.0009	0.0035	0	0	0.0034	7.348e-05	0.0009	0	0.175	0.25055	T	0.127	0.35082	T	0.17	0.28703	B	0.073	0.28123	B	0.942128	0.08346	N	0.976407	0.998094	0.22354	N	.	.	.	-0.39	0.69158	T	-1.51	0.36787	N	0.227	0.29889	-0.8236	0.53708	T	0.227	0.59221	T	10	0.009269536	0.00209	T	0.046448	0.62461	D	0.216	0.50959	.	.	0.752477613949	0.75024	0.7426249018366236	0.74208	0.164649147638	0.18577	0.240315064788	0.02819	T	0.034464	0.23330	T	-0.358611	0.04208	T	-0.284868	0.46303	T	0.00866549920485869	0.00106	T	0.782522	0.47957	T	.	.	.	.	.	.	.	.	-8.314	0.63190	D	.	.	0.091	0.13221	B	.;.;.;.;.;.	.;.;.;.;.;.	2.128633	0.27101	17.35	0.98262797205748875	0.39685	0.17319	0.19785	N	AEFDBI	0.184551	0.31188	N	-0.450984526598893	0.23705	1.274953	-0.455550835554026	0.23391	1.275386	0.18326192160824	0.17901	0.517182	0.21443	0	0.693144	0.66847	0	0.478664	0.07449	1	0.567892	0.33627	0	.	.	4.52	3.64	0.40864	0.811000	0.26855	0.828000	0.21920	0.599000	0.40250	0.316000	0.25468	0.244000	0.23872	0.148000	0.20235	0.0:0.907:0.0:0.093	10.411	0.43479	934	0.15400	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001512	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1495.33	34	chr7	140015766	.	C	T	1495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=776;ExcessHet=0;FS=0.61;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=-0.081;SOR=0.637	GT:AD:DP:GQ:PL	0/1:86,63:149:99:1509,0,2026	18	0	1	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	2076.13	76	chr7	143478290	.	A	G	2076.13	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-3.068;DP=1751;ExcessHet=5.3738;FS=194.204;InbreedingCoeff=-0.3257;MLEAC=9;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.27;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:95,48:143:99:.:.:594,0,1910:.	9	0	9	1
chr7	149266498	149266498	G	A	exonic	ZNF783	.	nonsynonymous SNV	ZNF783:NM_001195220:exon2:c.G188A:p.R63H	.	426	1093	3	0	0	3	0.00137049	.	.	.	2679414	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.142	0.0137069171236	.	.	0.0002	0	8.684e-05	0	0	9.043e-05	0	0.0012	0.0001746	27	154602	rs778915004	0.0001	0.0001	7.626e-05	0.0001	0.0010	9.095e-05	8.601e-05	0.0009	0.0008	0	2.236e-05	0	0	0	0.0007	4.317e-05	0.0002	0.0010	3.286e-05	3.283e-05	3.855e-05	2.691e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0.0032	4.41e-05	0	0.0002	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.005287	0.32928	N	0.000000	0.983788	0.24856	N	1.575	0.39704	L	1.82	0.25018	T	-3.97	0.73684	D	0.651	0.66187	-1.0094	0.27105	T	0.111	0.39888	T	8	0.1761185	0.32579	T	0.013707	0.33318	T	0.142	0.37995	0.391	0.41443	0.0401082797425	0.02173	0.3532436280803842	0.35238	0.947956979236	0.72490	0.509351015091	0.40131	T	.	.	.	-0.384358	0.02924	T	-0.370432	0.36839	T	0.186706086226917	0.19648	T	0.591241	0.21771	T	.	.	.	.	.	.	.	.	-9.127	0.68510	D	.	.	0.305	0.53402	B	.	.	4.922941	0.81098	27.5	0.99940393680984629	0.99767	0.74249	0.36320	D	AEFBCI	0.164275	0.29065	N	0.259883155552847	0.54129	3.579333	0.289482101456636	0.54924	3.656176	0.995184375683774	0.33994	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.73	4.73	0.59485	1.875000	0.39214	8.515000	0.77403	0.676000	0.76740	0.807000	0.29812	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	13.205	0.59215	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1976.33	34	chr7	149266498	.	G	A	1976.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.634;DP=867;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.604;SOR=0.742	GT:AD:DP:GQ:PL	0/1:69,77:146:99:1990,0,1720	18	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.4737	21366.3	445	chr7	152229940	.	A	G	21366.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.758;DP=6155;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=44.67;MQRankSum=0.851;QD=3.8;ReadPosRankSum=0.116;SOR=0.691	GT:AD:DP:GQ:PL	0/1:272,99:371:99:1543,0,9327	1	0	18	0
chr7	157604048	157604048	G	A	exonic	PTPRN2	.	nonsynonymous SNV	PTPRN2:NM_001308267:exon15:c.C2258T:p.A753V,PTPRN2:NM_130842:exon15:c.C2321T:p.A774V,PTPRN2:NM_130843:exon15:c.C2285T:p.A762V,PTPRN2:NM_001308268:exon16:c.C2441T:p.A814V,PTPRN2:NM_002847:exon16:c.C2372T:p.A791V	.	423	1089	10	0	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0187896881572	.	0.000399361	0.0009	0	0.0010	0	0	0.0001	0.0034	0.0052	0.0008409	130	154602	rs146720941	0.0005	0.0005	0.0003	0.0007	0.0063	0.0004	0.0004	0.0059	0.0057	5.974e-05	0.0006	0.0002	7.557e-05	0	0.0031	5.306e-05	0.0005	0.0063	0.0003	0.0003	0.0002	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	2.406e-05	0	0.0006	0	0	0	0.0034	0.0001	0.0009	0.0050	0.473	0.12714	T	0.205	0.27145	T	0.157	0.29346	B	0.003	0.16460	B	0.140836	0.18296	N	0.516121	1	0.08975	N	-0.575	0.02294	N	4.18	0.02743	T	-2.18	0.49187	N	0.151	0.15609	-0.8770	0.49997	T	0.005	0.01688	T	10	0.0063737333	0.00144	T	0.01879	0.40966	T	0.057	0.16321	.	.	0.359763055319	0.35592	0.5286014057527064	0.52784	0.206737855118	0.23106	0.346403777599	0.17391	T	0.207026	0.56654	T	-0.538226	0.00343	T	-0.543428	0.17962	T	0.0187020719383918	0.00583	T	0.212779	0.03476	T	0.06369615	0.13438	0.05130058	0.08229	0.06369615	0.13438	0.05130058	0.08228	-4.872	0.35701	T	.	.	0.088	0.11749	B	.;.;.;.;.	.;.;.;.;.	1.204276	0.15965	12.23	0.7196691781180008	0.09810	0.22502	0.21768	N	AEFDBCI	0.160332	0.28625	N	-0.805910044446393	0.13159	0.6463118	-0.786447578764554	0.14827	0.7767897	0.0311315198264662	0.13984	0.676563	0.55306	0	0.573888	0.26702	0	0.673471	0.61138	0	0.613276	0.41899	0	.	.	5.28	3.48	0.38946	2.990000	0.49090	1.269000	0.25279	-0.110000	0.15115	0.125000	0.23262	0.001000	0.17328	0.061000	0.16044	0.1346:0.1223:0.7431:0.0	8.891	0.34596	994	0.00715	.;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1321.33	38	chr7	157604048	.	G	A	1321.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.383;DP=803;ExcessHet=0;FS=8.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-1.223;SOR=1.294	GT:AD:DP:GQ:PL	0/1:56,54:110:99:1335,0,1368	18	0	1	0
chr7	159034235	159034235	C	T	exonic	VIPR2	.	nonsynonymous SNV	VIPR2:NM_001308259:exon7:c.G901A:p.G301S,VIPR2:NM_001304522:exon8:c.G709A:p.G237S,VIPR2:NM_003382:exon10:c.G949A:p.G317S	.	406	1105	11	0	0	11	0.00495272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.0377106719027	.	0.000998403	0.0013	0	0.0003	0.0003	0	7.666e-05	0.0022	0.0086	0.0010996	170	154602	rs568217175	0.0006	0.0006	0.0004	0.0008	0.0079	0.0006	0.0006	0.0074	0.0072	2.987e-05	8.944e-05	0	0.0002	0	0.0017	0.0001	0.0006	0.0079	0.0003	0.0003	0.0001	0.0005	0.0072	0.0002	0.0002	0.0054	0.0047	2.406e-05	0	0	0	0	0	0	0.0001	0	0.0072	0.08	0.41096	T	0.08	0.41913	T	1.0	0.90584	D	1.0	0.97372	D	0.000129	0.49741	D	0.000000	1	0.81001	D	2.035	0.55589	M	1.39	0.33842	T	-4.23	0.78636	D	0.548	0.58287	-0.8555	0.51584	T	0.185	0.53421	T	9	0.011734426	0.00255	T	0.037711	0.57781	D	0.513	0.79156	.	.	0.713953179041	0.71144	0.4882033876028686	0.48740	0.722601246418	0.62293	0.630112946033	0.57161	T	0.30306	0.67543	T	-0.375707	0.03315	T	-0.306197	0.44067	T	0.0975964634608597	0.12090	T	0.950105	0.80888	D	0.3380305	0.56121	0.28150144	0.54132	0.3380305	0.56122	0.28150144	0.54131	-11.591	0.83186	D	.	.	0.121	0.27252	B	.;.;.	.;.;.	3.849965	0.55766	23.7	0.99826325574887831	0.90852	0.96317	0.68548	D	AEFDBI	0.908330	0.86350	D	0.489713512453256	0.66488	4.956548	0.411622505538091	0.62288	4.44171	0.999999999999939	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.66	4.66	0.57857	4.578000	0.60640	2.643000	0.33766	0.549000	0.26987	1.000000	0.71638	0.992000	0.31684	0.118000	0.19084	0.0:1.0:0.0:0.0	15.040	0.71448	982	0.03397	GPCR, family 2-like;.;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1116.33	38	chr7	159034235	.	C	T	1116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=706;ExcessHet=0;FS=2.848;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.896;SOR=1.07	GT:AD:DP:GQ:PL	0/1:45,42:87:99:1130,0,1118	18	0	1	0
chr8	7333620	7333620	C	T	exonic	USP17L1;USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.C1234T:p.H412Y,USP17L1:NM_001256873:exon1:c.C1234T:p.H412Y	.	436	1066	17	3	0	23	0.0106729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00239617	0.0079	0.0035	0.0062	0	0.0054	0.0120	0.0101	0.0035	0.001191	31	26028	rs201302491	0.0058	0.0060	0.0056	0.0059	0.0307	0.0057	0.0056	0.0264	0.0247	0.0025	0.0034	0.0111	5.18e-05	0.0069	0.0307	0.0059	0.0070	0.0041	0.0049	0.0048	0.0052	0.0045	0.0063	0.0046	0.0044	0.0058	0.0056	0.0021	0	0.0035	0.0116	0	0.0044	0.0368	0.0063	0.0074	0.0034	.	.	.	0.436	0.13480	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.204	0.22614	.	.	.	.	.	.	.	0.004554063	0.00094	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.01658367185519768	0.01613	.	.	0.545712947845	0.45253	T	0.023156	0.17727	T	-0.505776	0.00530	T	-0.496121	0.22751	T	.	.	.	0.541546	0.18382	T	0.12105584	0.28473	0.1154537	0.27869	0.12105584	0.28473	0.1154537	0.27869	-4.358	0.28982	T	.	.	0.071	0.04041	B	.	.	0.457832	0.08275	5.021	0.67168932098771628	0.08274	0.00210	0.01196	N	AEFI	.	.	.	.	.	.	.	.	.	1.09537333666636E-6	0.01202	0.074636	0.01641	0	0.063388	0.01293	0	0.063197	0.01477	0	0.101684	0.03063	0	0.0443366	0.03230	.	.	.	0.893000	0.27970	-0.106000	0.11884	0.055000	0.17525	0.008000	0.17931	0.000000	0.08366	0.011000	0.09372	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2499.33	34	chr8	7333620	.	C	T	2499.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.598;DP=828;ExcessHet=0;FS=8.272;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.62;MQRankSum=-1.465;QD=13.02;ReadPosRankSum=-1.91;SOR=0.433	GT:AD:DP:GQ:PL	0/1:92,100:192:99:2513,0,2375	18	0	1	0
chr8	8328402	8328402	C	T	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon5:c.G2380A:p.V794I,PRAG1:NM_001369759:exon5:c.G2380A:p.V794I	.	417	1102	2	1	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.00890788794536	8.1e-05	0.00159744	0.0008	0.0001	0.0002	0.0001	0	0.0002	0	0.0047	0.0006921	107	154602	rs202114232	0.0004	0.0004	0.0002	0.0005	0.0044	0.0003	0.0003	0.0040	0.0039	0	2.236e-05	0.0011	2.519e-05	0	0.0019	8.094e-05	0.0003	0.0044	0.0002	0.0002	0.0001	0.0003	0.0058	0.0002	0.0002	0.0041	0.0036	2.409e-05	0	0	0.0006	0	0	0	7.354e-05	0	0.0058	.	.	.	0.577	0.08594	T	.	.	.	.	.	.	0.000235	0.47286	D	0.000000	0.96736	0.25852	N	.	.	.	.	.	.	.	.	.	0.279	0.31590	-0.9988	0.30255	T	0.129	0.43787	T	10	0.0078550875	0.00178	T	0.008908	0.23487	T	.	.	.	.	0.0806252709748	0.07271	0.09650026235197756	0.09582	.	.	0.478297293186	0.35821	T	0.04315	0.26411	T	-0.359451	0.04161	T	-0.288974	0.45880	T	0.0584335504470382	0.06919	T	0.747125	0.36767	T	0.016736116	0.00218	0.043512616	0.05432	0.016736116	0.00218	0.043512616	0.05431	-3.88	0.22002	T	.	.	0.093	0.14155	B	.;.	.;.	2.979278	0.39734	21.0	0.97606978037481562	0.34881	0.49576	0.28464	N	AEFDBI	0.090539	0.18345	N	-0.0941172914403514	0.37649	2.193525	-0.115267178475584	0.34774	2.004124	0.999999475248285	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	1.838000	0.38851	1.342000	0.25744	0.596000	0.33519	0.014000	0.18986	0.937000	0.28687	0.029000	0.12982	0.0:0.9166:0.0:0.0834	11.634	0.50450	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1637.33	33	chr8	8328402	.	C	T	1637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.19;DP=748;ExcessHet=0;FS=9.517;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=1.38;SOR=0.237	GT:AD:DP:GQ:PL	0/1:46,59:105:99:1651,0,975	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	10774.2	70	chr8	10609944	.	A	G	10774.2	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-5.582;DP=4163;ExcessHet=4.0268;FS=203.216;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=5.3;ReadPosRankSum=1.08;SOR=12.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,72:259:99:0|1:10609943_C_T:1028,0,6493:10609943	6	0	8	5
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	.	.	.	.	.	.	.	.	0.045	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	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.3125	19088.4	307	chr8	10609948	.	C	G	19088.4	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.359;DP=4756;ExcessHet=20.8569;FS=294.975;InbreedingCoeff=-0.7674;MLEAC=11;MLEAF=0.344;MQ=60;MQRankSum=0;QD=4.95;ReadPosRankSum=2.02;SOR=14.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,73:262:99:0|1:10609943_C_T:1038,0,6526:10609943	6	0	10	3
chr8	12138384	12138384	C	T	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.G377A:p.C126Y	.	579	939	4	0	0	4	0.0021254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.00133937677492	0.0028	0.000599042	0.0024	0.0003	0.0006	0	0.0023	0.0031	0.0047	0.0027	0.0003458	9	26028	rs200055041	0.0029	0.0035	0.0029	0.0029	0.0033	0.0028	0.0028	0.0032	0.0032	0.0004	0.0010	0	0	0.0016	0	0.0033	0.0022	0.0027	0.0018	0.0021	0.0015	0.0020	0.0030	0.0016	0.0015	0.0025	0.0024	0.0007	0	0.0006	0	0	0.0014	0	0.0029	0.0015	0.0030	0.0	0.91255	D	0.001	0.83351	D	0.899	0.49514	P	0.914	0.64984	D	0.000000	0.84330	D	0.000000	0.956561	0.37980	D	2.77	0.80896	M	1.58	0.29085	T	-9.35	0.98346	D	0.294	0.33250	-0.8412	0.52567	T	0.154	0.48360	T	10	0.014803618	0.00311	T	0.001339	0.01910	T	0.163	0.42028	.	.	0.496036935653	0.49239	0.07919436859435168	0.07854	1.54876453167	0.87867	0.662284135818	0.61736	T	0.012946	0.11287	T	-0.473871	0.00804	T	-0.457763	0.26844	T	0.156386138625615	0.17600	T	0.962204	0.85735	D	0.8390349	0.86540	0.59535444	0.76508	0.8390349	0.86541	0.59535444	0.76509	-8.09	0.61682	D	.	.	0.597	0.68739	P	.	.	2.844318	0.37536	20.5	0.87330475525047502	0.17150	0.37639	0.25807	N	AEFBI	0.116983	0.22937	N	-0.0877945378619465	0.37927	2.213726	-0.375639455725426	0.25725	1.416495	9.03828231417938E-5	0.04703	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.745	0.745	0.17509	2.424000	0.44370	4.251000	0.42758	-0.746000	0.03629	0.723000	0.28851	0.735000	0.26442	0.005000	0.06747	0.0:0.9999:0.0:1.0E-4	7.438	0.26336	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000645	0.000000	0.001437	0.000000	0.000000	0.000000	0.000000	0.009524	0.02941	4333.24	58	chr8	12138384	.	C	T	4333.24	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.441;DP=2904;ExcessHet=0;FS=1.129;InbreedingCoeff=-0.0366;MLEAC=1;MLEAF=0.029;MQ=44.53;MQRankSum=-4.511;QD=8.75;ReadPosRankSum=0.417;SOR=0.664	GT:AD:DP:GQ:PL	0/1:306,189:495:99:4346,0,8186	16	0	1	2
chr8	17755227	17755227	C	A	exonic	MTUS1	.	nonsynonymous SNV	MTUS1:NM_001001924:exon2:c.G581T:p.G194V,MTUS1:NM_001001925:exon2:c.G581T:p.G194V,MTUS1:NM_001363057:exon2:c.G581T:p.G194V,MTUS1:NM_001363059:exon2:c.G581T:p.G194V,MTUS1:NM_001363060:exon2:c.G581T:p.G194V,MTUS1:NM_001363061:exon2:c.G581T:p.G194V,MTUS1:NM_001363062:exon2:c.G581T:p.G194V,MTUS1:NM_001363058:exon3:c.G581T:p.G194V	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0002	0.00239617	0.0014	0.0004	0	0	0.0002	5.994e-05	0.0022	0.0097	0.001229	190	154602	rs202123481	0.0007	0.0007	0.0004	0.0010	0.0103	0.0007	0.0007	0.0097	0.0095	0.0001	4.472e-05	0	0	0	0.0005	8.543e-05	0.0010	0.0103	0.0005	0.0005	0.0003	0.0006	0.0126	0.0004	0.0003	0.0101	0.0092	4.811e-05	0	0	0	0	0	0	0.0001	0	0.0126	0.328	0.13566	T	0.346	0.17696	T	0.037	0.20876	B	0.008	0.13708	B	0.066027	0.02195	N	2.165150	0.999999	0.08975	N	1.245	0.31408	L	3.18	0.07478	T	-1.68	0.40082	N	0.19	0.20793	-1.0369	0.18264	T	0.021	0.09101	T	9	0.003976643	0.00077	T	.	.	.	0.027	0.05988	.	.	0.238096912614	0.23440	0.06973377808633463	0.06911	.	.	0.186883121729	0.00175	T	0.019507	0.15531	T	-0.634148	0.00090	T	-0.675724	0.07247	T	0.0101351351177203	0.00137	T	0.693931	0.30359	T	0.08876896	0.20718	0.061836734	0.12003	0.086786516	0.20184	0.06519515	0.13178	-3.421	0.15340	T	.	.	0.105	0.25396	B	.;.;.	.;.;.	0.083338	0.04887	1.473	0.61143346239495011	0.06636	0.24391	0.22379	N	ALL	0.129637	0.24788	N	-1.05553781007281	0.07479	0.3475857	-1.09821572006125	0.07735	0.3774523	0.999999997656701	0.74766	0.608966	0.35542	0	0.681609	0.65952	0	0.505578	0.09266	0	0.691587	0.68394	0	.	.	4.05	0.148	0.14137	-0.363000	0.07645	-0.293000	0.10176	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4961:0.1859:0.3179	3.732	0.08023	559	0.71409	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2670.33	190	chr8	17755227	.	C	A	2670.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=2902;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=0.574;SOR=0.679	GT:AD:DP:GQ:PL	0/1:84,94:178:99:2684,0,2184	18	0	1	0
chr8	22138686	22138686	G	A	exonic	REEP4	.	nonsynonymous SNV	REEP4:NM_025232:exon7:c.C661T:p.R221C	.	418	1093	11	0	0	11	0.00500683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	.	0.0043	0.00359425	0.0055	0.0015	0.0033	0.0001	0.0014	0.0061	0.0044	0.0115	0.0055303	855	154602	rs117450750	0.0056	0.0056	0.0053	0.0058	0.0119	0.0055	0.0054	0.0113	0.0110	0.0007	0.0041	0.0026	5.038e-05	0.0015	0.0054	0.0058	0.0047	0.0119	0.0046	0.0046	0.0045	0.0047	0.0095	0.0043	0.0042	0.0073	0.0066	0.0015	0.0385	0.0073	0.0012	0	0.0005	0.0068	0.0062	0.0038	0.0095	0.001	0.78490	D	0.002	0.79402	D	0.004	0.12183	B	0.001	0.04355	B	0.000034	0.55875	D	0.000000	0.957518	0.51612	D	3.115	0.87836	M	-2.44	0.88767	D	-3.37	0.66665	D	0.609	0.62611	-0.1694	0.78443	T	0.478	0.80002	T	10	0.007106751	0.00162	T	.	.	.	0.332	0.65424	.	.	0.727179310058	0.72475	0.48868743946425386	0.48788	0.896211288583	0.70471	0.547908902168	0.45563	T	0.238315	0.60619	T	-0.218068	0.18257	T	-0.0756281	0.65221	T	0.0834535804151129	0.10423	T	0.910709	0.68343	D	0.42042944	0.62120	0.24099955	0.49487	0.42042944	0.62121	0.24099955	0.49486	-10.273	0.75530	D	.	.	0.324	0.54825	B	.	.	4.753819	0.76787	26.6	0.99890622921302064	0.96513	0.86785	0.46142	D	AEFBHCI	0.408690	0.48027	N	-0.210266376894166	0.32713	1.847808	-0.134069674508256	0.34026	1.952779	0.999971961124785	0.50053	0.722319	0.85440	0	0.702456	0.74545	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	5.0	4.13	0.47661	1.672000	0.37139	8.524000	0.77433	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.908000	0.44358	0.0932:0.0:0.7266:0.1802	6.406	0.20867	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	0.003021	0.000000	0.000000	0.002924	0.100000	0.000000	0.015244	0.000000	0.02632	2438.33	34	chr8	22138686	.	G	A	2438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=833;ExcessHet=0;FS=0.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.093;SOR=0.763	GT:AD:DP:GQ:PL	0/1:98,91:189:99:2452,0,2384	18	0	1	0
chr8	23529058	23529058	G	C	exonic	SLC25A37	.	nonsynonymous SNV	SLC25A37:NM_016612:exon1:c.G56C:p.G19A	.	389	1117	16	0	0	16	0.00711111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	.	.	.	0.0027	0.0005	0.0060	0	0	0.0040	0.0142	0.0010	0.0008603	133	154602	rs200459609	0.0009	0.0009	0.0009	0.0010	0.0257	0.0009	0.0009	0.0223	0.0210	0.0003	0.0016	0.0099	0	5.994e-05	0.0257	0.0006	0.0019	0.0014	0.0010	0.0010	0.0010	0.0009	0.0021	0.0009	0.0008	0.0015	0.0013	0.0002	0	0.0021	0.0101	0	0	0.0171	0.0009	0.0028	0.0006	0.13	0.26740	T	0.224	0.25591	T	0.734	0.42776	P	0.138	0.33406	B	0.003680	0.34636	N	0.246987	0.962674	0.38304	D	0.805	0.20218	L	-1.01	0.76168	T	-0.6	0.17834	N	0.373	0.41459	-0.7164	0.59639	T	0.255	0.62575	T	10	0.0068131685	0.00155	T	.	.	.	0.318	0.64008	.	.	0.745232050416	0.74294	0.17578501024551194	0.17497	0.936360437383	0.72034	0.768285036087	0.77169	T	0.045788	0.27230	T	-0.265721	0.12238	T	-0.184545	0.56100	T	0.102972446768267	0.12681	T	0.816218	0.47186	T	0.17310637	0.38040	0.27671754	0.53619	0.17310637	0.38040	0.27671754	0.53618	-4.198	0.26722	T	.	.	0.093	0.14201	B	.	.	3.904529	0.56897	23.8	0.98253269564361456	0.39594	0.72977	0.35704	D	ALL	0.554127	0.56510	D	0.0984579257895524	0.46391	2.880142	0.184301842967826	0.48985	3.107453	0.999999999999906	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.73	3.86	0.43689	5.090000	0.64332	6.436000	0.55643	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1013:0.0:0.8987:0.0	8.922	0.34778	820	0.40914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016700	0.005102	0.014986	0.041176	0.000000	0.017544	0.018519	0.003788	0.02632	889.33	33	chr8	23529058	.	G	C	889.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.269;DP=707;ExcessHet=0;FS=4.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.451;SOR=1.351	GT:AD:DP:GQ:PL	0/1:35,37:72:99:903,0,891	18	0	1	0
chr8	23702902	23702902	T	G	exonic	NKX2-6	.	nonsynonymous SNV	NKX2-6:NM_001136271:exon2:c.A455C:p.K152T	Conotruncal heart malformations;Persistent truncus arteriosus	0	1521	1	0	0	1	0.000328623	.	.	YES	1302282	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.571	0.438853424678	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751396105	1.07e-05	1.094e-05	1.127e-05	1.012e-05	0.0002	6.43e-06	5.1e-06	7.191e-05	4.929e-05	0	0.0002	0	0	0	0	5.554e-06	1.721e-05	2.52e-05	1.314e-05	1.313e-05	2.569e-05	0	0.0001	2.18e-06	8.2e-07	2.259e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.003	0.68238	D	0.005	0.72224	D	1.0	0.90584	D	0.996	0.84481	D	0.002746	0.36001	N	0.123256	0.706783	0.33477	D	0.885	0.21608	L	-4.0	0.96339	D	-5.49	0.85765	D	0.289	0.32701	0.406	0.89183	D	0.852	0.95073	D	10	0.5602324	0.64746	D	0.438853	0.94125	D	0.571	0.82573	0.496	0.58520	0.54173910141	0.53827	0.6040524078199315	0.60336	1.45438165439	0.86217	0.688649117947	0.65512	T	0.822504	0.95675	D	0.00238484	0.51984	T	-0.00864902	0.69772	D	0.904201090335846	0.55761	D	0.90421	0.66396	D	0.5348835	0.69108	0.4980513	0.70976	0.5348835	0.69109	0.4980513	0.70977	-11.006	0.79691	D	0.4612133284253029	0.54339	0.534	0.66099	A	.	.	4.408398	0.68175	25.2	0.99663428318346692	0.78074	0.91969	0.54656	D	AEFDBHCI	0.322394	0.42489	N	0.225161905769254	0.52421	3.41636	0.159278619819709	0.47637	2.990849	0.835046073646114	0.24763	0.603402	0.35316	0	0.563428	0.19063	0	0.606814	0.37721	0	0.663205	0.64265	0	.	.	4.35	1.9	0.24770	2.081000	0.41220	2.658000	0.33861	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1852:0.1117:0.0:0.7031	4.134	0.09630	635	0.64580	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2465.33	85	chr8	23702902	.	T	G	2465.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.675;DP=1075;ExcessHet=0;FS=4.395;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-0.369;SOR=0.448	GT:AD:DP:GQ:PL	0/1:80,98:178:99:2479,0,2234	18	0	1	0
chr8	27670947	27670947	G	A	exonic	SCARA3	.	nonsynonymous SNV	SCARA3:NM_016240:exon6:c.G1417A:p.V473M	.	415	1091	15	1	0	17	0.00773079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0331255153031	0.0012	0.000599042	0.0019	0.0001	0.0008	0.0001	0.0002	0.0025	0.0023	0.0034	0.0016753	259	154602	rs147324406	0.0013	0.0014	0.0012	0.0014	0.0022	0.0013	0.0013	0.0016	0.0016	9.496e-05	0.0009	0.0335	2.534e-05	0.0002	0.0022	0.0006	0.0029	0.0019	0.0013	0.0013	0.0015	0.0010	0.0010	0.0011	0.0011	0.0008	0.0007	7.213e-05	0	0.0005	0.0325	0	0	0	0.0010	0.0014	0.0008	0.286	0.15201	T	0.313	0.19539	T	0.016	0.17332	B	0.006	0.12133	B	0.633718	0.05827	N	1.165770	1	0.08975	N	1.245	0.31408	L	-3.4	0.94260	D	-0.11	0.08653	N	0.036	0.01068	-0.4275	0.71147	T	0.547	0.83364	D	10	0.005185157	0.00113	T	0.033126	0.54762	D	0.203	0.48915	.	.	0.798076512967	0.79619	0.10774969646574388	0.10703	0.162397982952	0.18320	0.334661066532	0.15637	T	0.208051	0.56787	T	-0.369997	0.03594	T	-0.309799	0.43681	T	0.00504043334217297	0.00054	T	0.667533	0.27667	T	0.08316424	0.19193	0.08295986	0.18974	0.08316424	0.19193	0.08295986	0.18974	-4.213	0.26939	T	.	.	0.090	0.12750	B	.	.	0.452082	0.08223	4.960	0.75929647117673771	0.11266	0.19069	0.20515	N	AEFDBCI	0.110472	0.21906	N	-1.00992305831001	0.08397	0.3935796	-0.979874274801805	0.10237	0.5143351	0.999998101058565	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.644132	0.48003	0	0.711	0.71501	0	.	.	5.61	0.661	0.17044	-3.568000	0.00478	-3.806000	0.02525	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.849000	0.40138	0.4071:0.0:0.4472:0.1457	4.467	0.11114	512	0.75040	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002028	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.011364	0.02632	1521.33	35	chr8	27670947	.	G	A	1521.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.725;DP=795;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.803;SOR=0.693	GT:AD:DP:GQ:PL	0/1:69,69:138:99:1535,0,1644	18	0	1	0
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q,INTS9:NM_001172562:exon12:c.C1149G:p.H383Q,INTS9:NM_001363038:exon12:c.C1221G:p.H407Q,INTS9:NM_018250:exon12:c.C1221G:p.H407Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.3056	808.56	107	chr8	28780872	.	G	C	808.56	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-3.658;DP=1552;ExcessHet=8.9063;FS=232.795;InbreedingCoeff=-0.3979;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=-0.439;SOR=11.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,22:86:5:.:.:5,0,1093:.	7	0	11	1
chr8	63186621	63186621	G	A	exonic	YTHDF3	.	nonsynonymous SNV	YTHDF3:NM_001277816:exon3:c.G457A:p.V153M,YTHDF3:NM_001277817:exon4:c.G457A:p.V153M,YTHDF3:NM_001277818:exon4:c.G457A:p.V153M,YTHDF3:NM_152758:exon4:c.G610A:p.V204M,YTHDF3:NM_001277813:exon5:c.G619A:p.V207M,YTHDF3:NM_001277814:exon5:c.G619A:p.V207M,YTHDF3:NM_001277815:exon5:c.G457A:p.V153M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0284944346617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.27056	T	0.965	0.56013	D	0.656	0.52685	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481	0.51583	.	.	.	.	.	.	.	0.28299952	0.45879	T	0.028494	0.51165	D	.	.	.	.	0.0675242888579	0.06100	0.42655970667476256	0.42572	1.46053770345	0.86340	0.75730407238	0.75528	T	0.025451	0.19026	T	0.124713	0.66842	D	-0.0586348	0.66428	T	.	.	.	0.963304	0.87416	D	0.22798337	0.45510	0.3949585	0.64176	0.22798337	0.45510	0.3949585	0.64176	-5.702	0.43712	T	.	.	0.111	0.30022	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.909069	0.80750	27.4	0.90831183174696462	0.20080	0.96384	0.68875	D	AEFDBCI	0.919377	0.88982	D	.	.	.	.	.	.	0.999999999999827	0.74766	0.295142	0.05270	0	0.278934	0.05175	0	0.320204	0.05785	0	0.322829	0.05601	0	.	.	5.56	5.56	0.83678	8.002000	0.88029	11.893000	0.99147	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.515	0.95155	868	0.31772	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2115.33	35	chr8	63186621	.	G	A	2115.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=759;ExcessHet=0;FS=1.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=-0.654;SOR=0.563	GT:AD:DP:GQ:PL	0/1:70,71:141:99:2129,0,1939	18	0	1	0
chr8	63187029	63187029	C	T	exonic	YTHDF3	.	nonsynonymous SNV	YTHDF3:NM_001277816:exon3:c.C865T:p.P289S,YTHDF3:NM_001277817:exon4:c.C865T:p.P289S,YTHDF3:NM_001277818:exon4:c.C865T:p.P289S,YTHDF3:NM_152758:exon4:c.C1018T:p.P340S,YTHDF3:NM_001277813:exon5:c.C1027T:p.P343S,YTHDF3:NM_001277814:exon5:c.C1027T:p.P343S,YTHDF3:NM_001277815:exon5:c.C865T:p.P289S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0299035880984	.	0.000998403	0.0005	0	0	0	0	0	0	0.0034	0.0003946	61	154602	rs568180760	0.0002	0.0002	8.442e-05	0.0003	0.0029	0.0002	0.0001	0.0026	0.0024	0	0	0	0	0	0.0002	0	9.94e-05	0.0029	0.0001	0.0001	7.71e-05	0.0002	0.0041	8.66e-05	7.253e-05	0.0027	0.0023	0	0	0	0	0	0	0	0	0	0.0041	.	.	.	0.32	0.21011	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	0.22870	.	.	.	.	.	.	.	0.0062336326	0.00140	T	0.029904	0.52327	D	.	.	.	.	0.043077524339	0.03247	0.17773639337103164	0.17692	0.578397025268	0.53743	0.47733142972	0.35690	T	0.073345	0.34674	T	-0.428125	0.01521	T	-0.391426	0.34385	T	.	.	.	0.765923	0.39853	T	0.082089	0.18893	0.28422394	0.54419	0.082089	0.18892	0.28422394	0.54418	-4.874	0.35442	T	.	.	0.064	0.02488	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.731617	0.35759	19.98	0.8845159302283071	0.17987	0.90676	0.52051	D	AEFDBHCI	0.498467	0.53256	N	.	.	.	.	.	.	0.999999992658821	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.375513	0.06772	0	.	.	5.68	4.81	0.61401	1.557000	0.35906	4.068000	0.41642	-0.804000	0.03133	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1365:0.8635:0.0:0.0	15.921	0.79356	868	0.31772	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2695.33	35	chr8	63187029	.	C	T	2695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.61;DP=813;ExcessHet=0;FS=0.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=2.28;SOR=0.751	GT:AD:DP:GQ:PL	0/1:97,100:197:99:2709,0,2515	18	0	1	0
chr8	67299229	67299229	C	T	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon4:c.G439A:p.V147I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.00485664365008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.144	0.33109	T	0.998	0.73220	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999944	0.51968	D	1.42	0.35681	L	1.82	0.25018	T	-0.83	0.22727	N	0.47	0.50598	-1.0588	0.12058	T	0.129	0.43867	T	10	0.44255733	0.58194	T	0.004857	0.12192	T	0.244	0.55061	0.419	0.46036	0.344740032716	0.34089	0.46458263451071363	0.46377	0.432702769526	0.43444	0.796535730362	0.81436	T	0.173112	0.52185	T	-0.0537433	0.43877	T	-0.314975	0.43122	T	0.922568202018738	0.58277	D	0.989121	0.96387	D	0.31868398	0.54528	0.16852483	0.38818	0.31868398	0.54528	0.16852483	0.38817	-7.853	0.60064	D	.	.	0.089	0.12276	B	.	.	4.127652	0.61742	24.4	0.99858364901069363	0.93729	0.99671	0.98530	D	AEFBI	0.844558	0.76151	D	0.691477747293272	0.79072	7.001596	0.703445623715783	0.82640	7.817407	0.999999999999729	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.003	0.92819	440	0.80101	Mon2, dimerisation and cyclophilin-binding domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1786	165.75	17	chr8	67299229	.	C	T	165.75	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-0.465;DP=388;ExcessHet=1.3;FS=182.949;InbreedingCoeff=-0.2845;MLEAC=6;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=0.447;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,5:20:81:0|1:67299227_A_G:81,0,314:67299227	9	0	5	5
chr8	73292779	73292782	AACC	-	exonic	RPL7	.	frameshift deletion	RPL7:NM_000971:exon2:c.30_33del:p.E10Dfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	926.75	91	chr8	73292778	.	GAACC	G	926.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.787;DP=1565;ExcessHet=0.3672;FS=235.638;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=1.26;SOR=7.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,22:98:99:.:.:327,0,2964:.	16	0	3	0
chr8	73292780	73292780	A	0	exonic	RPL7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09375	184.15	82	chr8	73292780	.	A	*	184.15	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.797;DP=1460;ExcessHet=0.7564;FS=164.808;InbreedingCoeff=-0.1854;MLEAC=4;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.1;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,22:98:99:.:.:327,0,2964:.	13	0	3	3
chr8	73292781	73292781	C	0	exonic	RPL7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1154	185.19	74	chr8	73292781	.	C	*	185.19	.	AC=3;AF=0.115;AN=26;BaseQRankSum=-2.771;DP=1425;ExcessHet=0.7564;FS=164.808;InbreedingCoeff=-0.2265;MLEAC=4;MLEAF=0.154;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.01;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,22:98:99:.:.:327,0,2964:.	10	0	3	6
chr8	73292782	73292782	-	GGGG	exonic	RPL7	.	frameshift insertion	RPL7:NM_000971:exon2:c.29_30insCCCC:p.E10Dfs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	1113.09	74	chr8	73292782	.	C	CGGGG	1113.09	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.799;DP=1397;ExcessHet=0.7564;FS=164.808;InbreedingCoeff=-0.1571;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=3.25;ReadPosRankSum=1.32;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,22:98:99:.:.:327,0,2964:.	14	0	3	2
chr8	90949839	90949839	G	A	exonic	NECAB1	.	nonsynonymous SNV	NECAB1:NM_022351:exon11:c.G893A:p.R298H	.	.	.	.	.	.	.	.	.	.	.	3555755	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.0122202122275	.	.	1.081e-05	0	0	0.0001	0	0	0	0	2.59e-05	4	154602	rs767867163	5.494e-05	5.678e-05	5.602e-05	5.385e-05	6.677e-05	4.494e-05	4.163e-05	5.441e-05	4.983e-05	0	2.251e-05	0	5.058e-05	0	0	6.677e-05	1.662e-05	2.341e-05	1.316e-05	1.314e-05	2.572e-05	0	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.042	0.41637	D	0.095	0.39492	T	0.013	0.16609	B	0.005	0.11217	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.435	0.12660	N	1.45	0.32482	T	-1.01	0.29114	N	0.322	0.36779	-1.0921	0.05191	T	0.063	0.26244	T	10	0.24881649	0.42184	T	0.01222	0.30597	T	0.045	0.12272	0.444	0.50139	0.321951552304	0.31805	0.44265490616651226	0.44182	0.496624975885	0.48164	0.393988251686	0.24230	T	0.021722	0.16866	T	-0.267108	0.12082	T	-0.449001	0.27806	T	0.421645939350128	0.29751	T	0.820618	0.50309	T	0.1252919	0.29375	0.10328728	0.24779	0.1252919	0.29375	0.10328728	0.24778	-6.26	0.48405	T	.	.	0.076	0.06024	B	.;.;.	.;.;.	3.053392	0.40982	21.3	0.99714522291468399	0.81563	0.84025	0.43112	D	AEFI	0.423053	0.48879	N	-0.0545869631669999	0.39397	2.322708	0.118802445639925	0.45512	2.812967	0.982547599569386	0.30416	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.72	4.85	0.62375	3.862000	0.55721	4.885000	0.45705	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1551:0.0:0.8449:0.0	10.597	0.44535	605	0.67457	Antibiotic biosynthesis monooxygenase domain|Antibiotic biosynthesis monooxygenase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1430.33	33	chr8	90949839	.	G	A	1430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.25;DP=733;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-1.119;SOR=0.728	GT:AD:DP:GQ:PL	0/1:65,64:129:99:1444,0,1514	18	0	1	0
chr8	98192995	98192995	C	T	exonic	NIPAL2	.	nonsynonymous SNV	NIPAL2:NM_001321635:exon11:c.G1135A:p.E379K	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.252172432661	.	0.00119808	0.0008	0	0.0002	0.0001	0	0	0	0.0055	0.0006533	101	154602	rs540816475	0.0004	0.0004	0.0002	0.0006	0.0060	0.0004	0.0003	0.0056	0.0054	2.99e-05	2.236e-05	0	2.52e-05	0	0.0009	9.008e-07	0.0003	0.0060	0.0002	0.0003	0.0001	0.0004	0.0079	0.0002	0.0002	0.0059	0.0052	0	0	0	0	0	0	0	0	0	0.0079	0.011	0.55530	D	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.75	0.90792	D	-0.91	0.24460	N	0.347	0.38848	-0.0362	0.81500	T	0.602	0.85859	D	8	0.008100033	0.00184	T	0.252172	0.89162	D	0.286	0.60456	0.266	0.21261	0.867755449348	0.86647	0.3290673790000483	0.32819	.	.	.	.	.	.	.	.	-0.217242	0.18370	T	-0.0824954	0.64720	T	0.0338127748412578	0.02606	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.06710	B	.	.	3.846372	0.55689	23.6	0.99786497496599857	0.87308	0.88304	0.48171	D	AEFDGBI	0.350786	0.44411	N	0.0924827931990651	0.46114	2.856743	0.273957999325908	0.54022	3.568701	0.999994904355394	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.579976	0.35079	0	.	.	5.81	5.81	0.92413	3.248000	0.51131	6.006000	0.52567	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9217:0.0:0.0783	12.522	0.55413	920	0.19381	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1757.33	37	chr8	98192995	.	C	T	1757.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.03;DP=793;ExcessHet=0;FS=4.058;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-0.128;SOR=0.431	GT:AD:DP:GQ:PL	0/1:66,72:138:99:1771,0,1762	18	0	1	0
chr8	112314049	112314049	G	C	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon45:c.C6953G:p.P2318R,CSMD3:NM_052900:exon48:c.C7241G:p.P2414R,CSMD3:NM_198123:exon49:c.C7553G:p.P2518R,CSMD3:NM_198124:exon50:c.C7433G:p.P2478R	.	.	.	.	.	.	.	.	.	.	.	3654632	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.522	0.0439731371488	7.7e-05	.	2.5e-05	0	0	0	0	4.541e-05	0	0	1.94e-05	3	154602	rs200501309	2.547e-05	2.6e-05	2.605e-05	2.488e-05	4.476e-05	1.879e-05	1.641e-05	2.011e-05	1.752e-05	0	4.476e-05	0	0	0	0	2.806e-05	4.995e-05	1.162e-05	1.317e-05	1.314e-05	2.573e-05	0	2.944e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.944e-05	0	0	0.004	0.78490	D	0.001	0.83351	D	0.996	0.90584	D	0.962	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	2.285	0.65182	M	2.29	0.17113	T	-5.75	0.87760	D	0.899	0.92901	-1.0398	0.17374	T	0.125	0.42883	T	10	0.82756615	0.81930	D	0.043973	0.61257	D	0.522	0.79704	.	.	0.535909150963	0.53241	0.7585111809645304	0.75799	0.664198230331	0.59059	0.752871751785	0.74870	T	0.142744	0.47849	T	0.0956598	0.63820	D	0.0754791	0.75277	D	0.927853226661682	0.59096	D	0.927407	0.73262	D	0.7434421	0.80490	0.74009186	0.84637	0.7434421	0.80491	0.74009186	0.84638	-7.951	0.64323	D	.	.	0.155	0.34205	B	.;.;.;.	.;.;.;.	4.751119	0.76717	26.6	0.99808365560694523	0.89264	0.99675	0.98566	D	AEFI	0.939171	0.93941	D	0.757772029004793	0.83411	8.010311	0.737362773619563	0.85208	8.513023	0.999999931362847	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	8.045000	0.89210	11.784000	0.96188	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.937	0.92562	854	0.34840	.;CUB domain|CUB domain|CUB domain|CUB domain;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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1150.33	37	chr8	112314049	.	G	C	1150.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.231;DP=726;ExcessHet=0;FS=3.181;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.443;SOR=1.083	GT:AD:DP:GQ:PL	0/1:42,50:92:99:1164,0,1122	18	0	1	0
chr8	112336775	112336775	T	A	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon40:c.A6296T:p.Y2099F,CSMD3:NM_052900:exon43:c.A6584T:p.Y2195F,CSMD3:NM_198123:exon44:c.A6896T:p.Y2299F,CSMD3:NM_198124:exon45:c.A6776T:p.Y2259F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00657786591523	.	.	0.0002	0	0	0	0	0	0	0.0017	0.0001811	28	154602	rs765598138	0.0001	0.0001	7.899e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	2.525e-05	0	0.0007	0	8.282e-05	0.0022	3.943e-05	3.94e-05	1.285e-05	6.728e-05	0.0010	1.716e-05	1.13e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	1.0	0.02489	T	1.0	0.01155	T	0.026	0.24389	B	0.063	0.30479	B	0.000068	0.52346	D	0.078785	0.997028	0.43577	D	0.415	0.12483	N	1.76	0.25996	T	-1.19	0.32590	N	0.4	0.45615	-1.1016	0.03903	T	0.045	0.19234	T	10	0.036373377	0.01932	T	0.006578	0.17358	T	0.116	0.32463	0.728	0.86198	0.376089632046	0.37223	0.3294693004118944	0.32859	0.52909541509	0.50476	0.657410681248	0.61038	T	0.04483	0.26936	T	-0.441739	0.01263	T	-0.420534	0.31014	T	0.0975454494202075	0.12084	T	0.855114	0.57669	D	0.22514439	0.45170	0.16649754	0.38461	0.22514439	0.45170	0.16649754	0.38460	-2.323	0.08444	T	.	.	0.114	0.22789	B	.;.;.;.	.;.;.;.	3.021601	0.40446	21.2	0.94562020770215782	0.25088	0.94260	0.60603	D	AEFI	0.655479	0.62780	D	-0.175695937885163	0.34149	1.945672	0.052495018698139	0.42194	2.547794	0.525092470884417	0.21129	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	5.64	0.86480	3.210000	0.50832	4.983000	0.46475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.024	0.80323	868	0.31772	.;CUB domain|CUB domain|CUB domain|CUB domain;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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1612.33	33	chr8	112336775	.	T	A	1612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.837;DP=750;ExcessHet=0;FS=1.387;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=1.14;SOR=0.842	GT:AD:DP:GQ:PL	0/1:64,67:131:99:1626,0,1614	18	0	1	0
chr8	118924739	118924739	C	T	exonic	TNFRSF11B	.	nonsynonymous SNV	TNFRSF11B:NM_002546:exon5:c.G841A:p.V281M	Paget disease of bone 5, juvenile-onset, Autosomal recessive	1	1472	46	3	0	52	0.0173565	.	.	.	722816	not_provided|Hyperphosphatasemia_with_bone_disease	MedGen:C3661900|MONDO:MONDO:0009394,MedGen:C0268414,OMIM:239000,Orphanet:2801	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.472	.	0.0014	0.00559105	0.0046	0.0003	0.0015	0	0	0.0029	0.0045	0.0204	0.0040038	619	154602	rs140782326	0.0024	0.0024	0.0018	0.0030	0.0193	0.0023	0.0023	0.0185	0.0182	0.0002	0.0009	0.0243	7.557e-05	7.492e-05	0.0102	0.0007	0.0044	0.0193	0.0019	0.0019	0.0018	0.0021	0.0207	0.0017	0.0017	0.0174	0.0162	0.0003	0	0.0007	0.0248	0	9.42e-05	0.0068	0.0011	0.0028	0.0207	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.032329	0.25044	N	0.399577	0.999828	0.49512	D	2.74	0.80084	M	-2.1	0.86146	D	-0.81	0.22294	N	0.425	0.46462	0.555	0.91305	D	0.787	0.92779	D	9	0.008188218	0.00186	T	.	.	.	0.472	0.76554	.	.	0.934968889816	0.93430	0.5702795241821156	0.56955	0.953379303456	0.72727	0.697351574898	0.66761	T	0.553543	0.84926	D	-0.124175	0.32441	T	0.0644495	0.74541	D	0.0583540863247519	0.06907	T	0.929807	0.74042	D	0.261359	0.49195	0.36491203	0.61850	0.261359	0.49195	0.36491203	0.61850	-4.498	0.30863	T	0.6293411542440486	0.69855	0.260	0.49451	B	.	.	4.420963	0.68469	25.2	0.99899081334545292	0.97124	0.94924	0.62804	D	AEFGBCI	0.681942	0.64512	D	0.614798432573511	0.74108	6.077311	0.574524435262093	0.73118	5.918601	0.999999999999912	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.74	5.74	0.90070	4.562000	0.60528	4.937000	0.46179	0.594000	0.32500	0.998000	0.41325	1.000000	0.68203	0.871000	0.41478	0.0:1.0:0.0:0.0	20.298	0.98571	891	0.26808	Death domain|Death 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	0.009063	0.000000	0.009511	0.002924	0.050000	0.017241	0.009146	0.015152	0.02632	1375.33	33	chr8	118924739	.	C	T	1375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=718;ExcessHet=0;FS=5.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.003;SOR=1.292	GT:AD:DP:GQ:PL	0/1:52,49:101:99:1389,0,1247	18	0	1	0
chr8	124010665	124010665	C	T	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon14:c.C1772T:p.T591I	.	428	1033	60	1	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	0.0071	0.0131789	0.0097	0.0134	0.0047	0	0.0036	0.0064	0.0078	0.0322	0.0087838	1358	154602	rs151336286	0.0064	0.0064	0.0055	0.0072	0.0290	0.0063	0.0062	0.0281	0.0277	0.0130	0.0047	0.0022	0	0.0041	0.0162	0.0048	0.0075	0.0290	0.0080	0.0080	0.0083	0.0078	0.0264	0.0077	0.0075	0.0227	0.0212	0.0118	0	0.0105	0.0012	0	0.0031	0.0034	0.0057	0.0076	0.0264	0.099	0.30656	T	0.235	0.24767	T	0.0	0.02946	B	0.002	0.06944	B	0.107533	0.19567	N	0.460944	0.850161	0.35209	D	0.995	0.25082	L	-1.51	0.81399	D	-2.99	0.62151	D	0.22	0.24634	-0.7965	0.55350	T	0.231	0.59645	T	10	0.0048378706	0.00103	T	.	.	.	0.205	0.49236	.	.	0.154104182512	0.14974	0.5477211513146669	0.54698	0.118479470376	0.13338	0.444607198238	0.31207	T	0.138948	0.47272	T	-0.459616	0.00988	T	-0.410671	0.32148	T	0.0392810590565205	0.03561	T	0.578142	0.20837	T	0.07896309	0.18014	0.13668564	0.32693	0.07896309	0.18013	0.13668564	0.32692	-7.946	0.60701	D	.	.	0.118	0.24123	B	.	.	1.098005	0.14821	11.36	0.99163655309847987	0.54184	0.09839	0.15503	N	AEFGBHCI	0.051628	0.09138	N	-0.756144786044258	0.14467	0.7208705	-0.739194585284678	0.15987	0.8436258	0.99998999448841	0.51787	0.525926	0.21836	0	0.547309	0.14657	0	0.547309	0.15389	0	0.584449	0.35598	0	.	.	5.33	-1.02	0.09618	0.083000	0.14718	0.166000	0.15462	0.599000	0.40250	0.028000	0.20300	0.006000	0.19429	0.997000	0.79791	0.0:0.5131:0.0:0.4869	9.710	0.39404	793	0.45818	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.000000	0.012228	0.026316	0.000000	0.008621	0.015244	0.037879	0.02632	729.33	35	chr8	124010665	.	C	T	729.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.134;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=0.839;SOR=0.691	GT:AD:DP:GQ:PL	0/1:44,33:77:99:743,0,1228	18	0	1	0
chr8	124060704	124060704	G	A	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon24:c.G3142A:p.E1048K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	0.0803387251677	.	0.000199681	1.65e-05	0	0	0	0.0002	0	0	6.089e-05	1.94e-05	3	154602	rs200333104	1.574e-05	1.573e-05	1.225e-05	1.926e-05	5.798e-05	1.048e-05	8.76e-06	2.194e-05	1.43e-05	2.988e-05	2.237e-05	0	0	1.872e-05	0	1.08e-05	4.969e-05	5.798e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.027	0.55341	D	0.991	0.64070	D	0.767	0.56720	P	0.000028	0.55875	U	0.117978	1	0.81001	D	1.46	0.36832	L	-1.54	0.81640	D	-3.21	0.64826	D	0.607	0.62442	-0.1138	0.79779	T	0.534	0.82762	D	10	0.5771131	0.65642	D	0.080339	0.73438	D	0.603	0.84345	.	.	0.55375338871	0.55033	0.5937736388413459	0.59307	0.506984617199	0.48887	0.629762232304	0.57111	T	0.177039	0.52719	T	0.127763	0.67141	D	0.127274	0.78715	D	0.96356588602066	0.66696	D	0.934107	0.75346	D	0.3324222	0.55668	0.34638762	0.60308	0.3324222	0.55669	0.34638762	0.60307	-11.821	0.83968	D	.	.	0.191	0.41031	B	.	.	5.513456	0.91708	32	0.99908842325921032	0.97875	0.99490	0.96665	D	AEFDGBI	0.934390	0.92769	D	0.616470605597726	0.74216	6.095104	0.63290438732045	0.77341	6.661077	0.999999999999854	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	6.06	6.06	0.98340	9.968000	0.99102	8.374000	0.77054	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.141000	0.19983	0.0:0.0:1.0:0.0	20.216	0.98298	746	0.52331	C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1192.33	33	chr8	124060704	.	G	A	1192.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.832;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.568;SOR=0.638	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1206,0,1079	18	0	1	0
chr8	138606392	138606392	G	C	exonic	COL22A1	.	nonsynonymous SNV	COL22A1:NM_152888:exon58:c.C4093G:p.R1365G	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.114871447703	.	.	0.0002	0	0.0001	0	0	1.849e-05	0	0.0011	0.0001164	18	154602	rs768909983	7.325e-05	7.388e-05	3.133e-05	0.0001	0.0011	6.186e-05	5.746e-05	0.0009	0.0009	0	0	0	0	0	0.0003	4.498e-06	6.634e-05	0.0011	3.944e-05	3.941e-05	2.57e-05	5.383e-05	0.0012	1.716e-05	1.13e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.163	0.23450	T	0.219	0.29153	T	0.037	0.20876	B	0.034	0.22546	B	0.006773	0.31811	N	0.145674	1	0.81001	D	2.22	0.62911	M	-3.32	0.93882	D	-2.18	0.49187	N	0.503	0.54059	0.233	0.86459	D	0.708	0.89944	D	10	0.119962215	0.22712	T	0.114871	0.79387	D	0.308	0.62947	0.407	0.44066	0.423954403188	0.42011	0.8100118202297213	0.80956	0.10884607698	0.12275	0.501184463501	0.38993	T	0.009642	0.08763	T	-0.195743	0.21420	T	-0.0994993	0.63437	T	0.126320918188953	0.15038	T	0.922808	0.72589	D	0.15230581	0.34580	0.14967641	0.35330	0.15230581	0.34580	0.14967641	0.35329	-8.162	0.64733	D	.	.	0.211	0.43842	B	.;.	.;.	4.241536	0.64305	24.7	0.98812862726489459	0.46655	0.96648	0.70202	D	AEFI	0.605530	0.59621	D	-0.0338203629532056	0.40327	2.393067	0.0796883200869347	0.43530	2.652747	0.00207284577182199	0.09135	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.39	4.51	0.54589	3.184000	0.50627	9.622000	0.81108	0.676000	0.76740	0.979000	0.35152	1.000000	0.68203	0.996000	0.76049	0.0:0.1464:0.7015:0.152	10.359	0.43167	992	0.01359	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1063.33	33	chr8	138606392	.	G	C	1063.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=721;ExcessHet=0;FS=1.752;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.589;SOR=0.652	GT:AD:DP:GQ:PL	0/1:39,48:87:99:1077,0,760	18	0	1	0
chr8	143296448	143296448	C	G	exonic	ZNF696	.	nonsynonymous SNV	ZNF696:NM_030895:exon3:c.C773G:p.T258S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00263570390052	.	.	9.874e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs774068714	1.375e-06	1.368e-06	0	2.762e-06	3e-05	2.3e-07	9e-08	.	.	3e-05	0	0	0	0	0	0	1.661e-05	0	6.635e-06	6.594e-06	1.297e-05	0	2.445e-05	0	0	.	.	2.445e-05	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.015	0.61642	D	0.077	0.24313	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	0.39	0.12200	N	5.29	0.01100	T	-2.02	0.46503	N	0.052	0.02366	-0.9337	0.43590	T	0.003	0.00961	T	8	0.06932706	0.09930	T	0.002636	0.05349	T	0.021	0.04004	0.438	0.49157	0.0846915920261	0.08053	0.04815414018026229	0.04758	0.409923173613	0.41795	0.591630935669	0.51724	T	0.035734	0.23835	T	-0.538005	0.00344	T	-0.82468	0.01360	T	0.0528676968617928	0.05998	T	0.352565	0.07917	T	0.076615125	0.17338	0.076339066	0.16897	0.076615125	0.17337	0.076339066	0.16897	-4.479	0.30613	T	.	.	0.282	0.51454	B	.	.	-0.055074	0.03916	0.865	0.74990961386661703	0.10904	0.01605	0.05203	N	AEFGBI	.	.	.	-1.63839908117963	0.01085	0.04708644	-1.77335484739583	0.00848	0.03790854	0.999991793531597	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	3.09	-6.05	0.01988	-4.419000	0.00271	.	.	-0.198000	0.09030	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0:0.6994:0.0:0.3006	11.996	0.52497	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2754.33	36	chr8	143296448	.	C	G	2754.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.423;DP=1130;ExcessHet=0;FS=1.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-0.286;SOR=0.606	GT:AD:DP:GQ:PL	0/1:98,102:200:99:2768,0,2637	18	0	1	0
chr8	143920658	143920658	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.G9121A:p.V3041M,PLEC:NM_201379:exon32:c.G9097A:p.V3033M,PLEC:NM_201380:exon32:c.G9574A:p.V3192M,PLEC:NM_201381:exon32:c.G9067A:p.V3023M,PLEC:NM_201382:exon32:c.G9163A:p.V3055M,PLEC:NM_201383:exon32:c.G9175A:p.V3059M,PLEC:NM_201384:exon32:c.G9163A:p.V3055M,PLEC:NM_000445:exon33:c.G9244A:p.V3082M	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	.	.	.	.	.	.	.	.	.	.	1028319	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia	MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.194	0.110416282478	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1281499416	1.929e-05	2.052e-05	1.92e-05	1.937e-05	2.159e-05	1.338e-05	1.151e-05	1.46e-05	1.227e-05	0	0	0	0	2.296e-05	0	2.159e-05	3.316e-05	1.159e-05	2.628e-05	2.627e-05	3.853e-05	1.345e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0.0005	0	0.095	0.37118	T	0.024	0.57587	D	0.93	0.53072	P	0.261	0.43814	B	0.188992	0.16897	U	0.475712	1	0.08975	N	1.175	0.29870	L	-0.75	0.73311	T	-0.08	0.10136	N	0.138	0.18920	-0.7584	0.57492	T	0.240	0.60762	T	10	0.18335289	0.33659	T	0.110416	0.78779	D	0.194	0.47447	0.543	0.65589	0.555788435936	0.55237	0.34153817993139984	0.34066	.	.	0.37684699893	0.21809	T	0.034071	0.23173	T	-0.142259	0.29530	T	-0.442122	0.28571	T	0.236784979701042	0.22270	T	0.839616	0.51418	T	0.04243262	0.06434	0.0691445	0.14531	0.04243262	0.06433	0.0691445	0.14531	-5.391	0.40833	T	0.14064699199625627	0.15758	0.105	0.19760	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.244337	0.16405	12.52	0.8335830561573998	0.14682	0.20858	0.21194	N	AEFDGBCI	0.186960	0.31426	N	-0.52145501395566	0.21388	1.134641	-0.623865000043341	0.18880	1.010584	0.999480925388053	0.39952	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.21	0.99	0.18926	-0.385000	0.07438	.	.	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4065:0.5935:0.0	15.157	0.72430	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3781.33	61	chr8	143920658	.	C	T	3781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=2039;ExcessHet=0;FS=0.386;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=2.14;SOR=0.658	GT:AD:DP:GQ:PL	0/1:202,156:358:99:3795,0,4860	18	0	1	0
chr8	144516364	144516364	G	A	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon5:c.C755T:p.P252L	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	YES	138904	Rapadilino_syndrome|Baller-Gerold_syndrome|not_provided|Rothmund-Thomson_syndrome_type_2|not_specified	MONDO:MONDO:0009955,MedGen:C1849453,OMIM:266280,Orphanet:3021|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|MedGen:C3661900|MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	0.0115815	0.0064	0	0.0002	0.0004	0	4.799e-05	0.0036	0.0452	0.0052781	816	154602	rs199773279	0.0025	0.0025	0.0014	0.0037	0.0400	0.0025	0.0024	0.0389	0.0384	2.987e-05	2.24e-05	0	0.0001	0	0.0017	4.768e-05	0.0032	0.0400	0.0014	0.0014	0.0007	0.0022	0.0435	0.0013	0.0012	0.0387	0.0368	4.81e-05	0	0	0	0.0004	0	0	5.88e-05	0	0.0435	.	.	.	0.281	0.21612	T	0.011	0.15914	B	0.009	0.14300	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.20925	.	.	.	.	.	.	.	0.005003482	0.00108	T	.	.	.	.	.	.	.	0.704728438482	0.70216	0.19770409038007036	0.19687	.	.	0.27358341217	0.06613	T	0.072523	0.34474	T	-0.384026	0.02938	T	-0.293703	0.45386	T	.	.	.	0.50325	0.15827	T	0.028072616	0.02090	0.060437925	0.11511	0.028262425	0.02136	0.058010142	0.10646	-4.036	0.24341	T	0.25009329278623943	0.33853	0.075	0.05404	B	.	.	0.771992	0.11419	8.029	0.73065840257512249	0.10194	0.08486	0.14409	N	AEFBHCI	0.080413	0.16259	N	.	.	.	.	.	.	0.999371142064224	0.39355	0.256867	0.04430	0	0.194	0.04241	0	0.320204	0.05785	0	0.186031	0.04203	0	.	.	5.04	-0.014	0.13306	0.618000	0.24068	1.953000	0.29896	-0.106000	0.15538	0.000000	0.06391	0.013000	0.20296	0.028000	0.12845	0.3206:0.1336:0.5458:0.0	5.574	0.16498	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005539	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.015152	0.02632	1229.33	127	chr8	144516364	.	G	A	1229.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=1843;ExcessHet=0;FS=0.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=-0.611;SOR=0.76	GT:AD:DP:GQ:PL	0/1:84,52:136:99:1243,0,2117	18	0	1	0
chr8	144516629	144516629	C	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon5:c.G490A:p.E164K	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	834498	Inborn_genetic_diseases|Baller-Gerold_syndrome|RECQL4-related_disorder	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.00441552648517	.	.	9.416e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs576735078	1.371e-06	1.368e-06	0	2.757e-06	3e-05	2.3e-07	9e-08	.	.	3e-05	0	0	0	0	0	0	1.66e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.92	0.02873	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.20660	.	.	.	.	.	.	.	0.07559669	0.11704	T	0.004416	0.10781	T	.	.	.	.	0.700418472154	0.69782	0.43195165882162967	0.43112	.	.	0.309955894947	0.11901	T	0.017879	0.14511	T	-0.27467	0.11242	T	-0.44893	0.27816	T	.	.	.	0.438556	0.12074	T	0.053513777	0.10138	0.119034976	0.28733	0.053513777	0.10137	0.119034976	0.28732	-4.282	0.27924	T	.	.	0.073	0.04806	B	.	.	0.203638	0.05883	2.321	0.59372116379862405	0.06209	0.06543	0.12556	N	AEFGBC	0.075528	0.15170	N	.	.	.	.	.	.	0.999998886231907	0.74766	0.287651	0.05010	1	0.194	0.04241	0	0.25417	0.05116	1	0.286311	0.05470	0	.	.	4.7	2.62	0.30337	0.046000	0.13919	-0.026000	0.12859	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.8447:0.0:0.1553	8.498	0.32302	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	0	0	0.000504	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1544.33	56	chr8	144516629	.	C	T	1544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=1175;ExcessHet=0;FS=3.303;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=1.28;SOR=0.572	GT:AD:DP:GQ:PL	0/1:66,56:122:99:1558,0,1670	18	0	1	0
chr9	5832840	5832840	C	T	exonic	ERMP1	.	nonsynonymous SNV	ERMP1:NM_024896:exon1:c.G188A:p.G63D	.	435	1038	47	2	0	51	0.0239774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.00439297	0.0159	0	0.0396	0	0.0526	0.0191	0.0172	0.0143	0.0043466	672	154602	rs62638713	0.0093	0.0090	0.0092	0.0094	0.0254	0.0092	0.0091	0.0217	0.0204	0.0016	0.0054	0.0009	3.25e-05	0.0047	0.0254	0.0100	0.0079	0.0121	0.0059	0.0059	0.0062	0.0056	0.0106	0.0056	0.0054	0.0089	0.0087	0.0017	0	0.0043	0.0014	0	0.0036	0.0171	0.0095	0.0066	0.0106	0.266	0.16251	T	0.69	0.05920	T	0.019	0.17989	B	0.01	0.14941	B	0.142589	0.18239	N	0.458821	0.999983	0.18198	N	0	0.06538	N	0.98	0.42122	T	-0.03	0.07444	N	0.183	0.19861	-1.0601	0.11731	T	0.019	0.07800	T	10	0.004243642	0.00085	T	.	.	.	0.021	0.04004	.	.	0.152612264143	0.14878	0.5784803817705325	0.57777	1.05125465116	0.76159	0.825586915016	0.85886	D	0.013723	0.11817	T	-0.604661	0.00136	T	-0.630299	0.10392	T	0.0105604246406136	0.00147	T	0.342666	0.07446	T	0.032854058	0.03392	0.061487466	0.11881	0.032854058	0.03391	0.061487466	0.11881	-5.847	0.44982	T	.	.	0.124	0.26106	B	.	.	1.773328	0.22548	15.67	0.98681839479498568	0.44624	0.40144	0.26371	N	ALL	0.041827	0.06411	N	-1.09074595480116	0.06812	0.314695	-1.08348989215683	0.08025	0.3928126	0.999999995902894	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.519653	0.09787	0	0.71	0.69187	0	.	.	3.39	-1.32	0.08721	-0.520000	0.06338	.	.	-0.375000	0.05424	0.719000	0.28811	0.000000	0.08366	0.007000	0.07825	0.2528:0.2195:0.4238:0.1039	2.659	0.04714	516	0.74704	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019027	0.000000	0.014577	0.039877	0.050000	0.034483	0.019355	0.000000	0.1053	4328.41	40	chr9	5832840	.	C	T	4328.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.166;DP=805;ExcessHet=0.0101;FS=1.301;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=21.86;ReadPosRankSum=0.495;SOR=0.869	GT:AD:DP:GQ:PL	0/1:30,28:58:99:802,0,807	16	1	2	0
chr9	12821696	12821696	T	C	exonic	LURAP1L	.	nonsynonymous SNV	LURAP1L:NM_203403:exon2:c.T623C:p.I208T	.	429	1067	26	0	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	0.0065	0.00658946	0.0067	0.0021	0.0056	0	0.0038	0.0081	0.0088	0.0096	0.0067011	1036	154602	rs61755264	0.0083	0.0083	0.0082	0.0085	0.0137	0.0082	0.0081	0.0113	0.0104	0.0012	0.0057	0.0159	2.519e-05	0.0040	0.0137	0.0089	0.0077	0.0092	0.0052	0.0052	0.0053	0.0050	0.0078	0.0049	0.0047	0.0072	0.0070	0.0015	0	0.0054	0.0127	0	0.0017	0.0068	0.0078	0.0099	0.0058	0.067	0.35918	T	0.253	0.23501	T	.	.	.	.	.	.	0.572551	0.05488	N	1.264020	1	0.08975	N	.	.	.	0.84	0.47477	T	0.16	0.05217	N	0.093	0.07262	-1.0354	0.18731	T	0.050	0.21182	T	10	0.005319059	0.00117	T	.	.	.	0.074	0.21613	.	.	0.3085936734	0.30458	0.07636395279697009	0.07572	0.0354923742789	0.03747	0.362109303474	0.19693	T	.	.	.	-0.629934	0.00096	T	-0.670526	0.07575	T	0.00269191200996451	0.00028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04889	B	.	.	0.878504	0.12517	9.046	0.93405647518646784	0.23166	0.14882	0.18634	N	AEFDBI	0.196794	0.32375	N	-0.566462906350943	0.19970	1.049335	-0.465356978719384	0.23114	1.258878	0.999961960060817	0.48965	0.533608	0.22052	0	0.573888	0.26702	0	0.618467	0.43123	0	0.638833	0.57524	0	.	.	5.59	4.45	0.53365	1.991000	0.40348	0.178000	0.15598	-0.115000	0.14600	0.345000	0.25717	0.208000	0.23622	0.818000	0.38543	0.0:0.1423:0.1354:0.7223	6.187	0.19718	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.025253	0.006793	0.014620	0.000000	0.000000	0.009146	0.000000	0.05263	6310.83	33	chr9	12821696	.	T	C	6310.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.877;DP=1095;ExcessHet=0.119;FS=1.131;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.85;SOR=0.578	GT:AD:DP:GQ:PL	0/1:121,128:249:99:3236,0,3342	17	0	2	0
chr9	15623351	15623351	C	T	exonic	CCDC171	.	stopgain	CCDC171:NM_001355547:exon6:c.C760T:p.R254X,CCDC171:NM_173550:exon7:c.C760T:p.R254X,CCDC171:NM_001348002:exon8:c.C481T:p.R161X	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000199681	0.0003	0.0002	8.661e-05	0	0	6.005e-05	0	0.0015	0.0002135	33	154602	rs202011112	0.0001	0.0001	8.864e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0.0002	2.245e-05	0	0	0	0.0003	4.773e-05	8.299e-05	0.0017	0.0001	0.0001	0.0001	9.411e-05	0.0002	7.093e-05	5.749e-05	0.0001	8.436e-05	0.0002	0	6.547e-05	0	0	0	0	8.824e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.008622	0.30747	N	0.343528	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.197	0.21710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237777	0.77451	D	0.544146	0.95508	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.660699	0.96738	36	0.99857454380484278	0.93639	0.11064	0.16383	N	AEFI	0.078313	0.15797	N	0.318780714668131	0.57111	3.87748	0.0784624962961335	0.43467	2.647861	1.26560192892708E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.4	3.45	0.38602	0.121000	0.15496	0.649000	0.20393	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.958000	0.51230	0.3158:0.6842:0.0:0.0	11.957	0.52272	604	0.67577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1048.33	35	chr9	15623351	.	C	T	1048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.681;DP=723;ExcessHet=0;FS=3.629;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=1.17;SOR=0.425	GT:AD:DP:GQ:PL	0/1:55,48:103:99:1062,0,1155	18	0	1	0
chr9	19126126	19126126	G	C	exonic	PLIN2	.	nonsynonymous SNV	PLIN2:NM_001122:exon3:c.C214G:p.L72V	.	432	1037	46	7	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	.	0.0048	0.00778754	0.0078	0.0007	0.0029	0	0.0003	0.0063	0.0100	0.0292	0.0069986	1082	154602	rs149124591	0.0049	0.0049	0.0040	0.0058	0.0279	0.0048	0.0048	0.0270	0.0266	0.0003	0.0032	0.0328	5.04e-05	0.0004	0.0206	0.0028	0.0072	0.0279	0.0039	0.0039	0.0037	0.0041	0.0269	0.0036	0.0035	0.0232	0.0218	0.0006	0	0.0041	0.0268	0	0.0003	0.0102	0.0039	0.0043	0.0269	0.003	0.78490	D	0.004	0.92824	D	0.974	0.57829	D	0.974	0.73157	D	0.001185	0.39899	N	0.221461	0.998758	0.45389	D	3.42	0.91902	M	2.47	0.14783	T	-2.37	0.61580	N	0.817	0.81261	-0.7969	0.55327	T	0.107	0.39051	T	10	0.010061443	0.00225	T	.	.	.	0.396	0.71084	.	.	0.659526208185	0.65667	0.7646046571490274	0.76409	0.252766109563	0.27842	0.538249135017	0.44198	T	0.349394	0.71725	T	-0.151012	0.28154	T	0.0305767	0.72315	D	0.0698357970993575	0.08628	T	0.978169	0.92312	D	0.2263921	0.45320	0.27991867	0.53964	0.2263921	0.45320	0.27991867	0.53963	-9.252	0.69305	D	.	.	0.193	0.46631	B	.;.;.;.	.;.;.;.	6.398484	0.95145	34	0.99827297879109511	0.90939	0.97207	0.73322	D	ALL	0.681205	0.64464	D	0.714991296709042	0.80615	7.333665	0.628639343559016	0.77029	6.601281	0.999999717361203	0.74766	0.645754	0.44609	0	0.672317	0.65289	0	0.696144	0.63334	0	0.638787	0.57140	0	.	.	5.54	3.37	0.37692	5.688000	0.67889	4.196000	0.42436	-0.198000	0.09030	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.152:0.0:0.848:0.0	13.145	0.58873	681	0.59854	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.005051	0.017663	0.002924	0.050000	0.017241	0.021341	0.034091	0.1316	6749.37	33	chr9	19126126	.	G	C	6749.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.803;DP=1092;ExcessHet=1.3;FS=1.104;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.99;SOR=0.789	GT:AD:DP:GQ:PL	0/1:75,45:120:99:1100,0,2160	14	0	5	0
chr9	19786272	19786272	C	T	exonic	SLC24A2	.	nonsynonymous SNV	SLC24A2:NM_001193288:exon2:c.G595A:p.A199T,SLC24A2:NM_001375850:exon2:c.G595A:p.A199T,SLC24A2:NM_001375851:exon2:c.G595A:p.A199T,SLC24A2:NM_020344:exon2:c.G595A:p.A199T	.	424	1097	1	0	0	1	0.000455581	.	.	.	3325375	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.0159884011707	0.0002	.	0.0001	0	0	0	0	0.0003	0	0	0.0001488	23	154602	rs139419786	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	4.472e-05	0	0	0	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	9.403e-05	0.0010	9.146e-05	7.702e-05	0.0004	0.0003	7.223e-05	0	6.538e-05	0	0	0	0	0.0002	0	0.0010	0.132	0.26965	T	0.405	0.14771	T	0.875	0.48103	P	0.481	0.47102	P	0.000000	0.84330	D	0.052011	0.999997	0.58761	D	0.555	0.15161	N	-0.01	0.62762	T	-1.42	0.34992	N	0.255	0.33030	-0.9294	0.44227	T	0.152	0.48049	T	9	0.20506805	0.36721	T	0.015988	0.37021	T	0.116	0.32463	.	.	0.859468037599	0.85810	0.6550622061037467	0.65442	0.229182428038	0.25482	0.848619937897	0.89405	D	0.328087	0.69853	T	-0.245973	0.14596	T	-0.300956	0.44623	T	0.0855192180600995	0.10678	T	0.892511	0.62902	D	0.17830838	0.38844	0.25664338	0.51368	0.17830838	0.38844	0.25664338	0.51367	-6.375	0.49688	T	.	.	0.791	0.76851	P	.;.	.;.	5.124501	0.85729	28.7	0.99855501363790278	0.93458	0.92185	0.55134	D	AEFBI	0.531744	0.55190	D	0.286991571270139	0.55488	3.712882	0.434247955618337	0.63713	4.610496	0.999999811508424	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.76	5.76	0.90726	5.570000	0.67098	5.952000	0.51667	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.2684:0.7316:0.0:0.0	12.958	0.57839	786	0.46839	Sodium/calcium exchanger membrane region;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2956.33	33	chr9	19786272	.	C	T	2956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.172;DP=886;ExcessHet=0;FS=1.013;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.919;SOR=0.667	GT:AD:DP:GQ:PL	0/1:118,112:230:99:2970,0,3053	18	0	1	0
chr9	20414312	20414312	-	CTG	exonic	MLLT3	.	nonframeshift insertion	MLLT3:NM_001286691:exon5:c.524_525insCAG:p.S187_T188insS,MLLT3:NM_004529:exon5:c.533_534insCAG:p.S190_T191insS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489057703	0.0011	0.0012	0.0010	0.0013	0.0066	0.0011	0.0011	0.0060	0.0057	0.0021	0.0018	0.0022	0.0066	0.0005	0.0018	0.0006	0.0017	0.0039	0.0034	0.0034	0.0035	0.0033	0.0063	0.0031	0.0030	0.0045	0.0039	0.0046	0	0.0037	0.0051	0.0024	0.0006	0.0070	0.0028	0.0049	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	5204.47	34	chr9	20414312	.	A	ACTG	5204.47	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.485;DP=871;ExcessHet=1.3;FS=0.512;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.053;MQ=59.88;MQRankSum=0;QD=18.33;ReadPosRankSum=0.17;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,22:43:99:0|1:20414312_A_ACTG:799,0,813:20414312	17	0	2	0
chr9	20758191	20758191	G	C	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375570:exon5:c.G389C:p.R130T,FOCAD:NM_001375567:exon6:c.G494C:p.R165T,FOCAD:NM_001375568:exon6:c.G494C:p.R165T,FOCAD:NM_017794:exon8:c.G494C:p.R165T	.	.	.	.	.	.	.	.	1.0000	0.998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	.	.	.	2.716e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs770297844	1.649e-05	1.642e-05	5.472e-06	2.762e-05	0.0005	1.116e-05	9.38e-06	0.0001	0.0001	0	0	0	0	0	0.0005	0	3.331e-05	0.0002	1.315e-05	1.313e-05	1.286e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.321e-05	3.04e-05	0	0	0	0	0	0	0	0	0	0.0004	0.006	0.61437	D	0.025	0.56192	D	.	.	.	.	.	.	0.000000	0.84330	D	0.046985	0.999973	0.53665	D	.	.	.	2.1	0.19990	T	-1.4	0.34596	N	0.723	0.72477	-1.1481	0.01083	T	0.063	0.26136	T	10	0.3145298	0.48894	T	0.022486	0.45384	T	0.191	0.46948	0.339	0.32979	0.332133492242	0.32818	0.5203331527216261	0.51956	0.0128615239235	0.01240	0.56930065155	0.48579	T	.	.	.	-0.145496	0.29019	T	-0.154623	0.58833	T	0.289241254329681	0.24558	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.31857	B	.;.	.;.	5.524360	0.91810	32	0.98041791792938049	0.37797	0.94715	0.62081	D	AEFBI	0.569055	0.57399	D	0.36229267939835	0.59392	4.118181	0.394002458159118	0.61194	4.316201	0.999998000742705	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	4.666000	0.61248	11.648000	0.93855	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	17.192	0.86762	629	0.65079	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1194.33	33	chr9	20758191	.	G	C	1194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.171;DP=777;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.852;SOR=0.746	GT:AD:DP:GQ:PL	0/1:49,51:100:99:1208,0,1347	18	0	1	0
chr9	21077768	21077768	G	C	exonic	IFNB1	.	nonsynonymous SNV	IFNB1:NM_002176:exon1:c.C102G:p.S34R	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00641865448437	0.0003	0.000998403	0.0008	0	8.754e-05	0.0001	0.0002	0.0004	0.0022	0.0037	0.0001229	19	154602	rs139262191	0.0005	0.0005	0.0004	0.0006	0.0042	0.0005	0.0004	0.0038	0.0037	2.989e-05	0.0003	0.0012	2.52e-05	0.0001	0.0014	0.0002	0.0008	0.0042	0.0004	0.0004	0.0002	0.0006	0.0054	0.0003	0.0003	0.0038	0.0032	2.406e-05	0	0.0002	0.0012	0	0	0.0034	0.0004	0	0.0054	0.004	0.65419	D	0.322	0.19016	T	0.99	0.63424	D	0.885	0.62825	P	0.125549	0.18838	N	0.585786	0.999987	0.18198	N	1.625	0.41611	L	2.26	0.17596	T	-2.72	0.57920	D	0.507	0.53884	-1.0818	0.07003	T	0.067	0.27434	T	10	0.011768788	0.00256	T	0.006419	0.16899	T	0.178	0.44724	0.71	0.84601	0.618380283371	0.61529	0.5497210084814975	0.54898	0.0310260877546	0.03212	0.33335223794	0.15439	T	0.124785	0.45005	T	-0.455132	0.01053	T	-0.428648	0.30089	T	0.0727125078825543	0.09027	T	0.522848	0.17081	T	0.69327134	0.77689	0.5606023	0.74577	0.69327134	0.77691	0.5606023	0.74578	-3.713	0.19510	T	.	.	0.392	0.59103	A	.	.	2.124693	0.27044	17.33	0.99166651550720797	0.54269	0.15375	0.18881	N	AEFGBI	0.059832	0.11329	N	-0.327488970590743	0.28107	1.547628	-0.485264577639745	0.22559	1.225869	0.993551061809221	0.33262	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.42	3.57	0.40014	1.775000	0.38213	.	.	-0.113000	0.14837	0.358000	0.25825	0.000000	0.08366	0.003000	0.05239	0.0805:0.0:0.7641:0.1554	8.210	0.30636	737	0.53483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1459.33	37	chr9	21077768	.	G	C	1459.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.674;DP=785;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.75;SOR=0.7	GT:AD:DP:GQ:PL	0/1:63,55:118:99:1473,0,1683	18	0	1	0
chr9	35649919	35649919	C	A	exonic	SIT1	.	nonsynonymous SNV	SIT1:NM_014450:exon5:c.G520T:p.A174S	.	362	1155	5	0	0	5	0.00215983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0055	0.00319489	0.0113	0.0025	0.0046	0	0.0549	0.0202	0.0127	0.0008	0.0048835	755	154602	rs138786883	0.0078	0.0078	0.0080	0.0076	0.0087	0.0077	0.0076	0.0085	0.0085	0.0009	0.0023	0.0053	2.582e-05	0.0188	0.0017	0.0087	0.0062	0.0006	0.0064	0.0064	0.0060	0.0069	0.0092	0.0061	0.0060	0.0087	0.0084	0.0010	0	0.0052	0.0046	0	0.0187	0.0034	0.0092	0.0057	0.0010	0.267	0.16198	T	0.363	0.16815	T	0.035	0.20614	B	0.015	0.17295	B	0.093225	0.20234	N	0.414784	0.80639	0.29054	N	0.55	0.14455	N	.	.	.	-1.23	0.31170	N	0.166	0.22998	-1.0706	0.09282	T	0.045	0.19397	T	9	0.0040133595	0.00078	T	.	.	.	0.016	0.02506	.	.	0.215869574891	0.21205	0.29357428659224816	0.29270	0.202293061456	0.22652	0.492101103067	0.37730	T	0.214163	0.57568	T	-0.422897	0.01640	T	-0.370844	0.36791	T	0.0343013272579602	0.02689	T	0.659534	0.26859	T	0.14101668	0.32510	0.12864642	0.30948	0.14101668	0.32510	0.12864642	0.30947	-2.974	0.09903	T	.	.	0.081	0.10304	B	.;.	.;.	1.796305	0.22833	15.78	0.93415614228595933	0.23180	0.30945	0.24212	N	AEFDBHCI	0.088458	0.17932	N	-0.452616629756348	0.23651	1.271589	-0.332515517491516	0.27055	1.498634	0.999999017874417	0.74766	0.205752	0.04085	2	0.52208	0.09955	0	0.459711	0.06710	0	0.542086	0.14980	0	.	.	5.15	1.28	0.20656	0.145000	0.15978	0.973000	0.23072	0.594000	0.32500	0.820000	0.29989	0.391000	0.24664	0.989000	0.64315	0.4443:0.4205:0.0:0.1352	4.285	0.10299	274	0.89249	.;.	.	.	.	.	rs138786883	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005584	0.010417	0.001366	0.002941	0.000000	0.034483	0.006211	0.007576	0.02632	1025.33	35	chr9	35649919	.	C	A	1025.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.42;DP=715;ExcessHet=0;FS=0.919;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-1.214;SOR=0.892	GT:AD:DP:GQ:PL	0/1:38,37:75:99:1039,0,1099	18	0	1	0
chr9	35906604	35906604	-	CCACCGCCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.317_318insCCACCGCCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA:p.H109_H110insPHHTPHHLHHHHHHHHRH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0018	0.0015	0.0015	0.0018	0.0015	0.0014	0.0017	0.0017	0.0006	0.0006	0.0002	0	0.0003	0.0003	0.0018	0.0014	0.0004	0.0009	0.0018	0.0007	0.0011	0.0015	0.0007	0.0007	0.0012	0.0011	5.76e-05	0	0.0007	0.0004	0	0	0.0056	0.0015	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	1788.73	15	chr9	35906604	.	C	CCCACCGCCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA	1788.73	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-0.516;DP=676;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.0853;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=22.36;ReadPosRankSum=-0.568;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:10,6:16:99:.:.:213,0,406:.	15	0	1	3
chr9	37541580	37541580	C	A	exonic	FBXO10	.	nonsynonymous SNV	FBXO10:NM_012166:exon2:c.G189T:p.Q63H	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0427210901321	8.1e-05	0.000399361	0.0003	0.0001	0.0002	0	0.0002	0.0003	0	0.0009	0.0002781	43	154602	rs181709089	0.0004	0.0004	0.0004	0.0004	0.0010	0.0004	0.0004	0.0009	0.0008	8.961e-05	0	0.0003	0	1.873e-05	0	0.0005	0.0003	0.0010	0.0002	0.0002	0.0003	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0001	0.0009	0	0	0	0.0003	0	0.0006	0.007	0.59928	D	0.029	0.54541	D	0.995	0.67487	D	0.854	0.60866	P	0.000001	0.62929	D	0.060564	0.999914	0.81001	D	1.935	0.51832	L	0.53	0.55090	T	-0.96	0.51157	N	0.412	0.45237	-0.7221	0.59359	T	0.200	0.55584	T	10	0.04618463	0.03778	T	0.042721	0.60614	D	0.175	0.44197	0.159	0.06287	0.783281269435	0.78128	0.6140809846443877	0.61340	0.964045552098	0.73106	0.638029098511	0.58284	T	0.04643	0.27422	T	-0.28436	0.10210	T	-0.237588	0.51034	T	0.0863505601882935	0.10779	T	0.865613	0.57909	D	0.2572649	0.48769	0.18737893	0.41967	0.2572649	0.48769	0.18737893	0.41966	-7.276	0.56024	T	.	.	0.180	0.39134	B	.;.	.;.	3.002693	0.40130	21.1	0.99714469118351468	0.81563	0.93527	0.58460	D	AEFBI	0.374853	0.45960	N	0.356776948534306	0.59098	4.086566	0.38089568692313	0.60387	4.225756	0.997639962564204	0.35843	0.719381	0.83141	0	0.709663	0.81188	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.7	4.8	0.61157	1.065000	0.30202	-0.208000	0.10880	0.599000	0.40250	1.000000	0.71638	0.234000	0.23804	0.997000	0.79791	0.0:0.9237:0.0:0.0762	13.540	0.61128	624	0.65661	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2234.33	34	chr9	37541580	.	C	A	2234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-1.207;SOR=0.703	GT:AD:DP:GQ:PL	0/1:86,80:166:99:2248,0,2140	18	0	1	0
chr9	77316185	77316185	G	A	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon38:c.G4525A:p.E1509K,VPS13A:NM_001018038:exon39:c.G4642A:p.E1548K,VPS13A:NM_015186:exon39:c.G4642A:p.E1548K,VPS13A:NM_033305:exon39:c.G4642A:p.E1548K	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	441348	VPS13A-related_disorder|Chorea-acanthocytosis|not_specified|not_provided	.|MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.00741771251295	0.0018	0.000798722	0.0021	0.0006	0.0010	0	0.0003	0.0035	0.0023	0.0002	0.0021798	337	154602	rs41289967	0.0025	0.0025	0.0026	0.0025	0.0061	0.0025	0.0024	0.0045	0.0040	0.0005	0.0017	0.0048	0	0.0003	0.0061	0.0029	0.0032	0.0002	0.0021	0.0021	0.0022	0.0020	0.0035	0.0019	0.0018	0.0028	0.0027	0.0004	0	0.0035	0.0061	0	0	0.0102	0.0032	0.0038	0.0004	0.44	0.10180	T	0.562	0.09298	T	0.127	0.26966	B	0.047	0.28435	B	0.527764	0.05239	N	1.279090	1	0.08975	N	2.08	0.57402	M	1.0	0.47815	T	-0.93	0.27052	N	0.199	0.23380	-1.0390	0.17617	T	0.067	0.27434	T	10	0.0038916469	0.00074	T	0.007418	0.19685	T	0.045	0.12272	.	.	0.238705975628	0.23479	0.29944684784188474	0.29857	0.154179888537	0.17409	0.307689607143	0.11558	T	0.180395	0.53171	T	-0.606244	0.00133	T	-0.642651	0.09477	T	0.00163735869035611	0.00017	T	0.909209	0.67884	D	0.08396974	0.19415	0.073441796	0.15960	0.0916046	0.21469	0.077185936	0.17170	-4.526	0.31227	T	.	.	0.082	0.08560	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.949406	0.13252	9.756	0.78432107585548716	0.12298	0.09622	0.15337	N	AEFHCI	0.091806	0.18592	N	-1.14401918918757	0.05878	0.2691698	-1.12167249919451	0.07287	0.353883	0.00160108730067787	0.08681	0.706298	0.61202	0	0.708844	0.79440	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.5	-0.509	0.11379	0.087000	0.14801	0.247000	0.16380	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.208000	0.22126	0.1372:0.4983:0.3645:0.0	11.823	0.51523	868	0.31772	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005040	0.000000	0.012228	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	834.33	28	chr9	77316185	.	G	A	834.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.75;DP=635;ExcessHet=0;FS=4.031;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=1.89;SOR=0.316	GT:AD:DP:GQ:PL	0/1:29,32:61:99:848,0,842	18	0	1	0
chr9	86046538	86046538	C	G	exonic	GOLM1	.	nonsynonymous SNV	GOLM1:NM_016548:exon5:c.G399C:p.R133S,GOLM1:NM_177937:exon5:c.G399C:p.R133S	.	430	1064	28	0	0	28	0.012987	.	.	.	2826181	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.081	.	0.0018	0.00299521	0.0045	0.0009	0.0044	0	0	0.0029	0.005	0.0174	0.003564	551	154602	rs140984957	0.0030	0.0031	0.0026	0.0035	0.0160	0.0030	0.0029	0.0153	0.0150	0.0006	0.0026	0.0079	0	1.873e-05	0.0090	0.0022	0.0033	0.0160	0.0022	0.0022	0.0024	0.0020	0.0122	0.0020	0.0019	0.0097	0.0088	0.0010	0	0.0036	0.0078	0.0006	0	0.0068	0.0021	0.0052	0.0122	0.15	0.24661	T	0.092	0.39954	T	0.01	0.15535	B	0.013	0.16460	B	0.112196	0.19368	N	0.554792	0.99983	0.20203	N	1.525	0.38595	L	1.05	0.39990	T	-2.86	0.60188	D	0.217	0.24260	-1.0431	0.16383	T	0.053	0.22307	T	10	0.006363988	0.00144	T	.	.	.	0.081	0.23632	0.18	0.08751	0.221734844693	0.21761	0.05271433561658003	0.05213	0.152621739343	0.17216	0.287026971579	0.08491	T	0.422817	0.77377	T	-0.561682	0.00248	T	-0.56662	0.15760	T	0.011707742043697	0.00179	T	0.722728	0.33613	T	0.13586207	0.31516	0.09560074	0.22681	0.13586207	0.31516	0.09560074	0.22680	-3.213	0.12640	T	.	.	0.253	0.48807	B	.;.	.;.	2.344900	0.30055	18.32	0.99020940272567248	0.50569	0.12262	0.17160	N	AEFDBHCI	0.150962	0.27535	N	-0.681197705656371	0.16558	0.8446677	-0.672908185262094	0.17640	0.9388459	0.951063994106124	0.27934	0.706548	0.73137	0	0.670034	0.63936	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.87	0.305	0.15048	-0.302000	0.08259	-0.128000	0.11649	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.980000	0.58198	0.1526:0.4128:0.1482:0.2864	1.122	0.01620	924	0.18029	.;.	.	.	.	.	.	Likely benign	0	0	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	0.006042	0.000000	0.001359	0.005848	0.000000	0.008621	0.006098	0.022727	0.02632	1462.33	35	chr9	86046538	.	C	G	1462.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.688;DP=729;ExcessHet=0;FS=5.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.923;SOR=0.85	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1476,0,1529	18	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	14305.3	565	chr9	92080918	.	G	C	14305.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.988;DP=7105;ExcessHet=38.2876;FS=417.684;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.11;SOR=15.946	GT:AD:DP:GQ:PL	0/1:228,174:416:99:801,0,3675	1	0	18	0
chr9	93308387	93308387	G	A	exonic	WNK2	.	nonsynonymous SNV	WNK2:NM_006648:exon27:c.G6319A:p.V2107I,WNK2:NM_001282394:exon28:c.G6430A:p.V2144I	.	422	1057	40	3	0	46	0.0212963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0052	0.00459265	0.0139	0.0154	0.0126	0	0.0018	0.0083	0.0177	0.0248	0.0041655	644	154602	rs61753907	0.0037	0.0037	0.0031	0.0043	0.0189	0.0036	0.0036	0.0181	0.0178	0.0093	0.0021	0.0040	0	0.0004	0.0181	0.0026	0.0041	0.0189	0.0051	0.0051	0.0049	0.0053	0.0159	0.0048	0.0047	0.0131	0.0120	0.0097	0.0044	0.0022	0.0052	0.0002	0.0004	0.0170	0.0032	0.0057	0.0159	0.225	0.18626	T	0.269	0.22426	T	0.68	0.41398	P	0.027	0.21085	B	0.001579	0.38612	N	0.176617	0.964912	0.81001	D	0.77	0.19370	N	-0.64	0.72125	T	-0.48	0.15782	N	0.066	0.08506	-0.9123	0.46569	T	0.142	0.46257	T	10	0.0041105747	0.00081	T	.	.	.	0.038	0.09825	.	.	0.284112513307	0.28011	0.07511304711046102	0.07447	0.111281827237	0.12551	0.329964995384	0.14929	T	0.042073	0.26065	T	-0.454325	0.01065	T	-0.410446	0.32173	T	0.00785497846881361	0.00092	T	0.776522	0.40920	T	0.051192675	0.09364	0.050252013	0.07850	0.047571544	0.08154	0.052882336	0.08800	-4.506	0.30967	T	.	.	0.080	0.07889	B	.;.	.;.	2.128572	0.27101	17.35	0.99328685768852176	0.59700	0.95908	0.66673	D	AEFBI	0.625359	0.60859	D	-0.0761293898034714	0.38442	2.251537	0.0413767641950699	0.41656	2.506365	0.99996638673327	0.48965	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	5.45	3.58	0.40133	3.571000	0.53586	2.039000	0.30291	0.676000	0.76740	1.000000	0.71638	0.969000	0.29651	0.988000	0.63387	0.1534:0.0:0.8466:0.0	11.070	0.47216	908	0.22609	.;.	.	.	.	.	.	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	0.011111	0.005102	0.004098	0.011765	0.000000	0.000000	0.015337	0.034091	0.05263	5176.81	40	chr9	93308387	.	G	A	5176.81	.	AC=2;AF=0.053;AN=38;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.76;SOR=0.798	GT:AD:DP:GQ:PL	1/1:0,158:158:99:5204,474,0	18	1	0	0
chr9	99218703	99218703	C	T	exonic	ALG2	.	stopgain	ALG2:NM_033087:exon2:c.G482A:p.W161X	Myasthenic syndrome, congenital, 14, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.828	0.82358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.458503	0.97591	37	0.99695024936768817	0.80180	0.97647	0.76137	D	AEFBCI	0.261998	0.37983	N	0.920796990238025	0.92741	11.601	0.789631596824565	0.89062	9.823793	0.999999999999992	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	7.503000	0.80474	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:1.0:0.0:0.0	19.019	0.92882	467	0.78285	Glycosyltransferase subfamily 4-like, N-terminal domain;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.0625	69.14	116	chr9	99218703	.	C	T	69.14	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-4.286;DP=1530;ExcessHet=0.119;FS=143.279;InbreedingCoeff=-0.105;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.26;ReadPosRankSum=0.665;SOR=9.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,38:153:78:.:.:78,0,2220:.	14	0	2	3
chr9	110407688	110407688	C	T	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon38:c.G7912A:p.D2638N	.	421	1062	36	3	0	42	0.0193906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	0.0009	0.00419329	0.0039	0.0002	0.0009	0	0	0.0016	0.0022	0.0211	0.0033699	521	154602	rs150389025	0.0022	0.0022	0.0016	0.0028	0.0190	0.0022	0.0021	0.0182	0.0179	8.961e-05	0.0012	0.0036	5.038e-05	0.0001	0.0088	0.0011	0.0027	0.0190	0.0016	0.0016	0.0013	0.0020	0.0188	0.0015	0.0014	0.0157	0.0146	7.216e-05	0.0175	0.0006	0.0023	0	0	0.0102	0.0017	0.0028	0.0188	.	.	.	0.156	0.31833	T	0.09	0.25173	B	0.051	0.25434	B	0.137757	0.18402	N	0.581714	1	0.08975	N	1.95	0.52479	M	.	.	.	.	.	.	0.179	0.19325	-0.8995	0.48044	T	0.210	0.56973	T	10	0.002509147	0.00038	T	.	.	.	0.184	0.45763	.	.	0.043077524339	0.03247	0.2620463983057441	0.26117	0.121745610629	0.13719	0.28997734189	0.08920	T	0.011709	0.10405	T	-0.438756	0.01315	T	-0.387424	0.34853	T	0.0170388723119597	0.00452	T	0.806319	0.45525	T	0.07042702	0.15511	0.064716496	0.13012	0.07042702	0.15511	0.064716496	0.13012	-4.035	0.24326	T	.	.	0.079	0.07318	B	.;.	.;.	1.640661	0.20938	14.98	0.9681063104756773	0.31187	0.29024	0.23712	N	AEFGBI	0.213469	0.33904	N	-0.524122409655037	0.21302	1.129493	-0.48544654266276	0.22554	1.225571	0.0590270227794336	0.15147	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	1.585000	0.36210	3.945000	0.40631	0.547000	0.25779	0.396000	0.26137	0.999000	0.35428	0.078000	0.17132	0.0:0.7881:0.1376:0.0743	10.073	0.41516	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.004076	0.008772	0.000000	0.008621	0.012195	0.015152	0.02632	1840.33	41	chr9	110407688	.	C	T	1840.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=1384;ExcessHet=0;FS=1.904;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-2.3;SOR=0.869	GT:AD:DP:GQ:PL	0/1:114,69:183:99:1854,0,3251	18	0	1	0
chr9	110411307	110411307	G	C	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon37:c.C6404G:p.S2135C	.	433	1061	23	5	0	33	0.0153132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.521	.	0.0009	0.00219649	0.0020	0	0.0005	0.0002	0.0002	0.0010	0.0067	0.0099	0.0017658	273	154602	rs201520602	0.0011	0.0011	0.0007	0.0014	0.0105	0.0010	0.0010	0.0100	0.0097	5.974e-05	0.0004	0.0003	5.038e-05	0.0001	0.0050	0.0004	0.0014	0.0105	0.0007	0.0007	0.0005	0.0009	0.0108	0.0006	0.0005	0.0084	0.0076	0	0	0.0004	0.0003	0	0.0002	0.0068	0.0005	0.0005	0.0108	0.018	0.50676	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	3.19	0.88972	M	0.75	0.66834	T	-2.13	0.52612	N	0.701	0.70527	-0.1106	0.79853	T	0.479	0.80047	T	10	0.011466593	0.00250	T	.	.	.	0.521	0.79643	.	.	0.284112513307	0.28011	0.5651406010224773	0.56441	0.475177538353	0.46692	0.497750043869	0.38514	T	0.035319	0.23671	T	-0.117525	0.33528	T	0.0663681	0.74668	D	0.0880394297841821	0.10983	T	0.787021	0.42574	T	0.34286007	0.56506	0.24555826	0.50047	0.34286007	0.56506	0.24555826	0.50046	-10.986	0.79582	D	.	.	0.470	0.63186	A	.;.	.;.	5.089267	0.84982	28.5	0.99257070197866881	0.57088	0.99565	0.97500	D	AEFBI	0.916904	0.88376	D	0.888241225313274	0.91171	10.75063	0.890068235185681	0.95124	13.33367	0.999999999443821	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.74	5.74	0.90070	9.756000	0.98104	11.791000	0.96374	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.931	0.97118	966	0.07191	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.022727	0.05263	3342.83	34	chr9	110411307	.	G	C	3342.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.59;DP=871;ExcessHet=0.119;FS=4.2;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.381;SOR=0.955	GT:AD:DP:GQ:PL	0/1:76,64:140:99:1921,0,2296	17	0	2	0
chr9	112143473	112143473	G	A	exonic	SUSD1	.	nonsynonymous SNV	SUSD1:NM_001282640:exon4:c.C524T:p.T175I,SUSD1:NM_001282643:exon4:c.C524T:p.T175I,SUSD1:NM_022486:exon4:c.C524T:p.T175I	.	437	1081	4	0	0	4	0.00184672	0.9901	0.796	.	711693	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.300	.	0.0049	0.00439297	0.0015	0.0163	0.0010	0	0	3.001e-05	0	6.077e-05	0.0014101	218	154602	rs143390223	0.0005	0.0005	0.0006	0.0004	0.0173	0.0005	0.0005	0.0162	0.0157	0.0173	0.0010	0	0	0	0.0012	2.609e-05	0.0011	2.325e-05	0.0046	0.0046	0.0049	0.0044	0.0157	0.0043	0.0042	0.0147	0.0143	0.0157	0	0.0027	0	0	0	0	1.47e-05	0.0047	0.0002	0.13	0.31987	T	0.015	0.61642	D	0.997	0.70673	D	0.859	0.61184	P	0.008874	0.30626	N	0.151391	0.507951	0.31795	D	2.635	0.77114	M	-0.81	0.74477	T	-3.09	0.63438	D	0.264	0.29889	-0.0945	0.80225	T	0.353	0.71650	T	10	0.009708136	0.00218	T	.	.	.	0.300	0.62068	.	.	0.693714523886	0.69107	0.4331451668364957	0.43231	0.221929053935	0.24731	0.332475095987	0.15308	T	0.218073	0.58069	T	-0.298629	0.08789	T	-0.18811	0.55768	T	0.0273748455466103	0.01597	T	0.720328	0.33319	T	0.1391478	0.32154	0.11396855	0.27508	0.1391478	0.32153	0.11396855	0.27507	-9.23	0.69165	D	.	.	0.137	0.29941	B	.;.;.	.;.;.	3.904666	0.56897	23.8	0.99865622052042591	0.94366	0.83328	0.42454	D	AEFGBI	0.288138	0.40010	N	0.378129221546389	0.60238	4.210636	0.383259301782389	0.60534	4.241869	0.99573448701443	0.34294	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.87	4.96	0.65153	0.993000	0.29281	3.172000	0.36616	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.788000	0.37229	0.0:0.0:0.7163:0.2837	13.476	0.60762	751	0.51694	EGF-like calcium-binding 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	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	1155.33	35	chr9	112143473	.	G	A	1155.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.601;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.728;SOR=0.646	GT:AD:DP:GQ:PL	0/1:65,46:111:99:1169,0,1789	18	0	1	0
chr9	113373937	113373937	G	A	exonic	HDHD3	.	nonsynonymous SNV	HDHD3:NM_001304511:exon2:c.C418T:p.R140W,HDHD3:NM_031219:exon2:c.C418T:p.R140W,HDHD3:NM_001304509:exon3:c.C418T:p.R140W,HDHD3:NM_001304510:exon3:c.C418T:p.R140W,HDHD3:NM_001371923:exon3:c.C418T:p.R140W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.0523525848532	0.0006	0.000599042	0.0003	0.0028	8.642e-05	0.0002	0.0002	4.499e-05	0	6.057e-05	0.0002652	41	154602	rs76975306	0.0001	0.0001	0.0002	0.0001	0.0032	0.0001	0.0001	0.0027	0.0025	0.0032	0.0002	0	5.038e-05	7.491e-05	0	6.025e-05	0.0004	4.637e-05	0.0009	0.0009	0.0009	0.0008	0.0030	0.0008	0.0007	0.0025	0.0024	0.0030	0	6.532e-05	0	0	9.407e-05	0	0.0001	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.94	0.96382	H	3.41	0.05574	T	-6.13	0.90100	D	0.868	0.88798	-0.9360	0.43241	T	0.080	0.31645	T	10	0.13039291	0.24815	T	0.052353	0.65037	D	0.355	0.67600	.	.	0.404034981753	0.40020	0.7403792867887609	0.73982	0.627442110425	0.56838	0.588320910931	0.51257	T	0.146456	0.48407	T	-0.112356	0.34379	T	0.0640428	0.74513	D	0.273257576309663	0.23886	T	0.920008	0.71084	D	0.91098595	0.92387	0.83915585	0.90783	0.91098595	0.92388	0.83915585	0.90783	-10.688	0.77919	D	.	.	0.435	0.62660	A	.;.	.;.	4.119003	0.61550	24.4	0.99904416660398432	0.97576	0.88308	0.48177	D	AEFDBCI	0.623763	0.60759	D	0.458904644509364	0.64710	4.731751	0.295183566673393	0.55258	3.688968	0.999999463652249	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.570548	0.19454	0	0.549297	0.17558	0	.	.	5.86	3.82	0.43153	3.124000	0.50155	1.919000	0.29697	0.676000	0.76740	1.000000	0.71638	0.982000	0.30508	0.367000	0.26044	0.0:0.0:0.7413:0.2587	15.758	0.77828	855	0.34697	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2032.33	42	chr9	113373937	.	G	A	2032.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.258;DP=874;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.022;SOR=0.733	GT:AD:DP:GQ:PL	0/1:99,81:180:99:2046,0,2573	18	0	1	0
chr9	114168631	114168631	T	C	exonic	COL27A1	.	nonsynonymous SNV	COL27A1:NM_032888:exon3:c.T1076C:p.I359T	.	.	.	.	.	.	.	.	.	.	.	1097528	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.260	0.0790538102245	0.0004	.	0.0002	0.0012	0.0002	0	0	7.496e-05	0	0	0.0001294	20	154602	rs145777803	7.867e-05	7.867e-05	7.895e-05	7.838e-05	0.0011	6.667e-05	6.201e-05	0.0008	0.0008	0.0011	0.0002	0.0015	0	0	0	9.892e-06	0.0003	2.319e-05	0.0004	0.0004	0.0003	0.0004	0.0011	0.0003	0.0003	0.0008	0.0007	0.0011	0	0.0001	0.0009	0	0	0.0034	4.412e-05	0.0005	0	0.709	0.18889	T	0.609	0.07716	T	0.0	0.21002	B	0.0	0.15521	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	-2.48	0.90735	D	0.19	0.08495	N	0.124	0.11626	-0.7444	0.58226	T	0.406	0.75600	T	9	0.010477424	0.00233	T	0.079054	0.73145	D	0.260	0.57221	.	.	0.400930682813	0.39710	0.02882939899928096	0.02832	0.141643471752	0.15964	0.301655381918	0.10647	T	0.001713	0.01442	T	-0.338668	0.05481	T	-0.304802	0.44214	T	0.00423411789082695	0.00045	T	0.69823	0.30825	T	0.023588305	0.01110	0.032588482	0.02018	0.023588305	0.01110	0.032588482	0.02018	-1.591	0.01961	T	.	.	0.124	0.54982	B	.;.	.;.	0.433469	0.08038	4.759	0.63926336416140195	0.07354	0.00732	0.03068	N	AEFDBI	0.038690	0.05512	N	-1.18956897433442	0.05157	0.2344315	-1.19575611847602	0.05980	0.2865158	0.998537631254754	0.37148	0.732398	0.92422	0	0.59043	0.45803	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.45	1.03	0.19161	-0.933000	0.04067	0.041000	0.13868	0.663000	0.56723	0.000000	0.06391	0.000000	0.08366	0.643000	0.32503	0.1634:0.1997:0.372:0.2649	0.761	0.00943	336	0.86165	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3620.33	36	chr9	114168631	.	T	C	3620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.469;DP=1113;ExcessHet=0;FS=13.04;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=0.688;SOR=0.292	GT:AD:DP:GQ:PL	0/1:105,137:242:99:3634,0,2873	18	0	1	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S,WHRN:NM_001083885:exon9:c.G1068C:p.R356S,WHRN:NM_001173425:exon9:c.G2217C:p.R739S,WHRN:NM_015404:exon9:c.G2217C:p.R739S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3824	7995.7	272	chr9	114406374	.	C	G	7995.7	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.035;DP=4089;ExcessHet=13.8672;FS=165.2;InbreedingCoeff=-0.5835;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=0.718;SOR=13.316	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:144,76:220:99:.:.:1545,0,4483:.	4	0	13	2
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T,WHRN:NM_001083885:exon9:c.G1067C:p.R356T,WHRN:NM_001173425:exon9:c.G2216C:p.R739T,WHRN:NM_015404:exon9:c.G2216C:p.R739T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	6730.11	112	chr9	114406375	.	C	G	6730.11	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-6.068;DP=3407;ExcessHet=6.9875;FS=164.626;InbreedingCoeff=-0.3828;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.3;ReadPosRankSum=0.637;SOR=12.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:144,50:219:99:.:.:1240,0,4492:.	8	0	10	1
chr9	122214297	122214297	C	T	exonic	LHX6	.	nonsynonymous SNV	LHX6:NM_001242335:exon3:c.G121A:p.A41T,LHX6:NM_001242334:exon5:c.G682A:p.A228T,LHX6:NM_001348190:exon5:c.G682A:p.A228T,LHX6:NM_001242333:exon6:c.G736A:p.A246T,LHX6:NM_014368:exon6:c.G769A:p.A257T,LHX6:NM_199160:exon6:c.G769A:p.A257T	.	372	1148	2	0	0	2	0.000870322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	.	0.0047	0.00499201	0.0015	0.0171	0.0006	0	0	1.817e-05	0	7.504e-05	0.0012419	192	154602	rs141012050	0.0004	0.0004	0.0004	0.0003	0.0144	0.0004	0.0004	0.0133	0.0128	0.0144	0.0006	3.901e-05	0	0	0.0010	8.128e-06	0.0011	8.248e-05	0.0040	0.0040	0.0040	0.0039	0.0134	0.0037	0.0036	0.0125	0.0121	0.0134	0	0.0024	0.0003	0	0	0	2.941e-05	0.0033	0.0004	0.084	0.42487	T	0.03	0.54159	D	1.0	0.90584	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0.68	0.16426	N	-3.91	0.96047	D	-1.75	0.44852	N	0.482	0.54409	0.389	0.88935	D	0.729	0.90715	D	10	0.008867353	0.00201	T	.	.	.	0.568	0.82403	.	.	0.711258371755	0.70873	0.7059164880953676	0.70533	2.76643379463	0.98772	0.782082915306	0.79242	T	0.564156	0.85461	D	-0.214922	0.18690	T	-0.0704665	0.65593	T	0.0488460848304539	0.05295	T	0.928407	0.73561	D	0.14779523	0.33770	0.15625481	0.36590	0.14779523	0.33770	0.15625481	0.36590	-9.477	0.72620	D	.	.	0.271	0.61470	B	.;.;.;.;.;.	.;.;.;.;.;.	5.639339	0.92730	33	0.99873550908518438	0.95076	0.93082	0.57281	D	ALL	0.574317	0.57715	D	0.380232242381178	0.60353	4.223155	0.381540853303743	0.60427	4.23018	0.999999999710882	0.74766	0.646311	0.45356	0	0.596491	0.49125	0	0.606814	0.37721	0	0.699875	0.68795	0	.	.	5.24	4.33	0.51083	5.664000	0.67715	7.625000	0.62478	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.764000	0.36293	0.0:0.9189:0.0:0.0811	12.618	0.55946	927	0.17636	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001521	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	955.33	43	chr9	122214297	.	C	T	955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.348;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.03;ReadPosRankSum=-0.41;SOR=0.815	GT:AD:DP:GQ:PL	0/1:17,36:53:99:969,0,350	18	0	1	0
chr9	122662610	122662610	G	C	exonic	OR1L1	.	nonsynonymous SNV	OR1L1:NM_001005236:exon1:c.G895C:p.G299R	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0106	0.0109824	0.0029	0.0324	0.0011	0	0	3.023e-05	0.0022	6.155e-05	0.0028137	435	154602	rs16912062	0.0010	0.0010	0.0012	0.0009	0.0368	0.0010	0.0009	0.0351	0.0344	0.0368	0.0011	0	0	0	0.0019	2.698e-05	0.0024	6.958e-05	0.0099	0.0099	0.0097	0.0102	0.0346	0.0095	0.0094	0.0332	0.0326	0.0346	0	0.0037	0	0	0	0	2.941e-05	0.0066	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.987	0.61912	D	0.839	0.60107	P	.	.	.	.	1	0.08975	N	0.91	0.23283	L	1.27	0.36146	T	-2.81	0.59389	D	0.603	0.62103	-1.0987	0.04252	T	0.032	0.13548	T	9	0.0039627254	0.00076	T	.	.	.	0.091	0.26358	.	.	0.16115917748	0.15686	0.3878819936921501	0.38703	0.184162317437	0.20708	0.231230124831	0.02060	T	0.019286	0.15396	T	-0.490043	0.00649	T	-0.449529	0.27749	T	0.0526285251107905	0.05956	T	0.960404	0.85096	D	0.65657634	0.75715	0.58835065	0.76120	0.65657634	0.75716	0.58835065	0.76121	-6.557	0.50724	T	.	.	0.578	0.67957	P	.;.	.;.	3.076678	0.41376	21.3	0.99580689654402343	0.72980	0.20109	0.20918	N	AEFBI	0.163897	0.29023	N	-0.191234486978056	0.33498	1.901151	-0.373795549451298	0.25781	1.419893	0.273133116892858	0.18913	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.26	2.35	0.28166	1.507000	0.35365	2.090000	0.30543	0.526000	0.24426	0.020000	0.19661	0.053000	0.21875	0.437000	0.27605	0.1124:0.0:0.6902:0.1975	5.381	0.15495	950	0.11238	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.015152	0.006793	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1916.33	33	chr9	122662610	.	G	C	1916.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.828;DP=843;ExcessHet=0;FS=4.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-2.35;SOR=1.077	GT:AD:DP:GQ:PL	0/1:76,82:158:99:1930,0,1916	18	0	1	0
chr9	122750665	122750665	G	A	exonic	OR1L6	.	nonsynonymous SNV	OR1L6:NM_001004453:exon2:c.G818A:p.R273Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00324895895741	7.7e-05	.	4.12e-05	0	0	0	0	7.494e-05	0	0	3.23e-05	5	154602	rs370417614	1.573e-05	1.573e-05	1.497e-05	1.65e-05	0.0001	1.048e-05	8.75e-06	3.348e-05	1.981e-05	5.974e-05	0	0	0.0001	1.872e-05	0	1.349e-05	0	1.159e-05	3.287e-05	3.284e-05	3.855e-05	2.692e-05	7.246e-05	1.261e-05	7.98e-06	1.921e-05	1.032e-05	7.246e-05	0	0	0	0	0	0	2.94e-05	0	0	0.219	0.23905	T	0.614	0.08624	T	0.969	0.56768	D	0.726	0.55126	P	0.021225	0.26875	N	0.261257	0.999728	0.20581	N	1.4	0.35362	L	8.75	0.00077	T	-1.28	0.34198	N	0.07	0.04307	-0.8946	0.48521	T	0.000	0.00152	T	10	0.13328052	0.25366	T	0.003249	0.07177	T	0.081	0.23632	.	.	0.5343833383	0.53088	0.026230873651227015	0.02573	0.366090419773	0.38189	0.192687392235	0.00276	T	0.00996	0.09029	T	-0.444766	0.01212	T	-0.720286	0.04782	T	0.359391152858734	0.27385	T	0.786321	0.42483	T	0.12391478	0.29086	0.12528087	0.30188	0.12391478	0.29085	0.12528087	0.30187	-1.237	0.01304	T	.	.	0.094	0.16054	B	.;.	.;.	3.138167	0.42432	21.5	0.99897434572815325	0.96971	0.00987	0.03753	N	AEFBI	0.035246	0.04504	N	-0.0249574567216218	0.40727	2.423679	-0.0886480910031286	0.35857	2.07961	0.123329706191377	0.16933	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.32	2.32	0.27895	-0.166000	0.09943	-11.167000	0.00629	-0.141000	0.12389	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.295:0.1927:0.5123:0.0	3.593	0.07543	927	0.17636	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2587.33	46	chr9	122750665	.	G	A	2587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=906;ExcessHet=0;FS=6.908;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=0.338;SOR=0.351	GT:AD:DP:GQ:PL	0/1:82,88:170:99:2601,0,2321	18	0	1	0
chr9	123034636	123034636	A	G	exonic	GPR21	.	nonsynonymous SNV	GPR21:NM_005294:exon2:c.A70G:p.T24A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	.	0.00359425	0.0012	0	0	0	0	1.501e-05	0	0.0090	0.0011061	171	154602	rs535225883	0.0005	0.0005	0.0003	0.0007	0.0073	0.0005	0.0004	0.0068	0.0066	2.988e-05	2.237e-05	0	0	0	0.0003	2.608e-05	0.0007	0.0073	0.0003	0.0003	0.0002	0.0004	0.0091	0.0002	0.0002	0.0070	0.0062	0	0	0	0	0	0	0	1.47e-05	0	0.0091	0.694	0.04251	T	0.834	0.03674	T	0.001	0.07471	B	0.001	0.04355	B	0.020971	0.26928	U	0.326375	1	0.81001	D	0.695	0.17993	N	1.25	0.36512	T	-0.19	0.09965	N	0.104	0.12341	-1.0690	0.09634	T	0.041	0.17785	T	10	0.0042392015	0.00085	T	.	.	.	0.111	0.31313	0.491	0.57732	0.187035705434	0.18338	0.11379438187513731	0.11307	0.198265135737	0.22201	0.415291637182	0.27188	T	0.013584	0.11722	T	-0.485325	0.00689	T	-0.464645	0.26095	T	0.102919201263208	0.12676	T	0.254375	0.03921	T	0.08963808	0.20951	0.10195523	0.24422	0.08963808	0.20951	0.10195523	0.24422	-4.136	0.25819	T	.	.	0.080	0.07937	B	.;.	.;.	2.066007	0.26268	17.06	0.873361382366589	0.17155	0.95203	0.63819	D	AEFBI	0.253642	0.37310	N	-0.418439179470542	0.24823	1.343065	-0.198735245123033	0.31584	1.788766	0.999974954854903	0.50053	0.0	0.00013	3	0.446627	0.06534	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	5.51	4.34	0.51267	4.292000	0.58826	9.346000	0.80257	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.7092:0.0:0.1461:0.1447	4.575	0.11625	883	0.28872	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2320.33	34	chr9	123034636	.	A	G	2320.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=802;ExcessHet=0;FS=2.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.026;SOR=0.805	GT:AD:DP:GQ:PL	0/1:86,84:170:99:2334,0,2245	18	0	1	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3529	3675.71	62	chr9	127707148	.	G	C	3675.71	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-1.183;DP=1556;ExcessHet=20.8569;FS=238.955;InbreedingCoeff=-0.7271;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=2.9;ReadPosRankSum=1.4;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,27:93:99:0|1:127707148_G_C:387,0,2224:127707148	5	0	12	2
chr9	127707149	127707149	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T118C:p.F40L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2059	1826.47	51	chr9	127707149	.	T	C	1826.47	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-1.879;DP=1323;ExcessHet=2.9153;FS=164.549;InbreedingCoeff=-0.2807;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=3.05;ReadPosRankSum=1.37;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,27:93:99:0|1:127707148_G_C:387,0,2224:127707148	10	0	7	2
chr9	127707150	127707150	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T119C:p.F40S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	1618.24	51	chr9	127707150	.	T	C	1618.24	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.516;DP=1273;ExcessHet=1.3;FS=159.969;InbreedingCoeff=-0.1413;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=3.56;ReadPosRankSum=0.952;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,27:93:99:0|1:127707148_G_C:387,0,2224:127707148	14	0	5	0
chr9	127733399	127733399	G	C	exonic	TOR2A	.	nonsynonymous SNV	TOR2A:NM_001252018:exon2:c.C93G:p.I31M,TOR2A:NM_001252021:exon2:c.C93G:p.I31M,TOR2A:NM_001252023:exon2:c.C93G:p.I31M,TOR2A:NM_001085347:exon3:c.C579G:p.I193M,TOR2A:NM_001134430:exon3:c.C579G:p.I193M,TOR2A:NM_130459:exon3:c.C579G:p.I193M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.142702111063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.53172	D	0.018	0.60337	D	0.999	0.90584	D	0.996	0.88582	D	0.000000	0.84330	D	0.046462	1	0.81001	D	2.8	0.81625	M	-1.16	0.78082	T	-2.68	0.60507	D	0.604	0.71321	0.305	0.87635	D	0.617	0.86464	D	10	0.8381007	0.82965	D	0.142702	0.82506	D	0.598	0.84074	0.817	0.93127	0.897662601008	0.89665	0.850651754141976	0.85027	0.701817640495	0.61187	0.715422093868	0.69380	T	0.249485	0.63064	T	0.196451	0.73561	D	0.0444113	0.73216	D	0.984585583209991	0.75845	D	0.810419	0.54093	T	0.5498772	0.69949	0.3398042	0.59740	0.5498772	0.69950	0.3398042	0.59740	-9.354	0.69946	D	.	.	0.393	0.59205	A	.;.;.	.;.;.	3.754247	0.53828	23.4	0.99427888359341721	0.64130	0.94690	0.61996	D	AEFDGBI	0.697191	0.65528	D	0.6015140496006	0.73271	5.93886	0.548472625366247	0.71289	5.632505	0.999999798118246	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.49	4.59	0.56297	2.977000	0.48988	2.622000	0.33640	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0743:0.0:0.9257:0.0	13.766	0.62478	286	0.88678	.;AAA+ ATPase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	78.33	41	chr9	127733399	.	G	C	78.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.486;DP=957;ExcessHet=0;FS=43.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=0.609;SOR=5.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,16:113:92:0|1:127733399_G_C:92,0,3683:127733399	18	0	1	0
chr9	127733401	127733401	T	C	exonic	TOR2A	.	nonsynonymous SNV	TOR2A:NM_001252018:exon2:c.A91G:p.I31V,TOR2A:NM_001252021:exon2:c.A91G:p.I31V,TOR2A:NM_001252023:exon2:c.A91G:p.I31V,TOR2A:NM_001085347:exon3:c.A577G:p.I193V,TOR2A:NM_001134430:exon3:c.A577G:p.I193V,TOR2A:NM_130459:exon3:c.A577G:p.I193V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	0.144735427078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.65419	D	0.008	0.69154	D	0.988	0.67487	D	0.965	0.76113	D	0.000000	0.84330	D	0.046462	1	0.81001	D	2.595	0.75868	M	-0.98	0.75789	T	-0.94	0.25770	N	0.314	0.36884	0.324	0.87936	D	0.599	0.85722	D	10	0.5827145	0.65939	D	0.144735	0.82697	D	0.429	0.73590	0.776	0.90157	0.849064490651	0.84761	0.6557392727841697	0.65509	0.329264048552	0.35035	0.663133621216	0.61857	T	0.073946	0.34821	T	0.0277072	0.55417	T	-0.197977	0.54839	T	0.854453265666962	0.50554	D	0.742826	0.57103	T	0.2507147	0.48075	0.21201196	0.45653	0.2507147	0.48075	0.21201196	0.45652	-5.471	0.48317	T	.	.	0.174	0.43869	B	.;.;.	.;.;.	4.466839	0.69576	25.4	0.99856125798024886	0.93458	0.94142	0.60239	D	AEFDGBI	0.542759	0.55836	D	0.712677403886688	0.80465	7.299849	0.668787338134111	0.80017	7.20631	0.999999998150523	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	3.678000	0.54361	6.197000	0.54843	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.805	0.69575	286	0.88678	.;AAA+ ATPase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	75.33	41	chr9	127733401	.	T	C	75.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.625;DP=903;ExcessHet=0;FS=46.576;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=0.474;SOR=5.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,16:114:89:0|1:127733399_G_C:89,0,3717:127733399	18	0	1	0
chr9	133432622	133432622	C	T	exonic	ADAMTS13	.	nonsynonymous SNV	ADAMTS13:NM_139025:exon9:c.C1022T:p.P341L,ADAMTS13:NM_139026:exon9:c.C929T:p.P310L,ADAMTS13:NM_139027:exon9:c.C1022T:p.P341L	Thrombotic thrombocytopenic purpura, familial, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	723417	not_provided|Upshaw-Schulman_syndrome	MedGen:C3661900|MONDO:MONDO:0010122,MedGen:C1268935,OMIM:274150,Orphanet:93583	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.239	.	0.0080	0.00579073	0.0044	0.0307	0.0022	0	0	0.0003	0	0.0004	0.0013907	215	154602	rs115943536	0.0008	0.0008	0.0009	0.0007	0.0243	0.0007	0.0007	0.0229	0.0223	0.0243	0.0025	0	0	0	0.0011	8.041e-05	0.0019	0.0001	0.0076	0.0076	0.0080	0.0071	0.0260	0.0072	0.0071	0.0248	0.0242	0.0260	0	0.0036	0	0	0	0	0.0001	0.0038	0	0.038	0.42783	D	0.004	0.74150	D	0.998	0.77913	D	0.379	0.50264	B	.	.	.	.	0.999979	0.58761	D	1.935	0.51832	L	-0.41	0.69536	T	-6.54	0.92217	D	0.503	0.53708	-0.5920	0.65140	T	0.261	0.63230	T	9	0.0063353777	0.00143	T	.	.	.	0.259	0.57090	.	.	0.855186993987	0.85378	0.7091305649128969	0.70855	0.406051081287	0.41486	0.36984360218	0.20809	T	0.433611	0.78099	T	-0.336934	0.05604	T	-0.236486	0.51141	T	0.069391058159247	0.08566	T	0.835416	0.54791	T	0.15741336	0.35470	0.17357942	0.39694	0.21991278	0.44534	0.19542222	0.43217	-9.14	0.68594	D	.	.	0.097	0.29004	B	.;.;.;.	.;.;.;.	4.277419	0.65129	24.8	0.99626161008341585	0.75716	0.89023	0.49246	D	AEFDBI	0.572417	0.57600	D	-0.0714330478663963	0.38650	2.266884	-0.0297283445908604	0.38378	2.26027	0.999278512988355	0.38974	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.35	4.45	0.53365	2.651000	0.46338	3.768000	0.39743	0.596000	0.33519	0.980000	0.35271	0.998000	0.33993	0.257000	0.23443	0.1568:0.7635:0.0:0.0797	8.096	0.29992	844	0.36711	ADAM, cysteine-rich;ADAM, cysteine-rich;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001025	0.010417	0.001377	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	723.33	33	chr9	133432622	.	C	T	723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.897;DP=696;ExcessHet=0;FS=0.939;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=1.41;SOR=0.546	GT:AD:DP:GQ:PL	0/1:40,29:69:99:737,0,1039	18	0	1	0
chr9	136362125	136362125	C	T	exonic	DNLZ	.	nonsynonymous SNV	DNLZ:NM_001080849:exon3:c.G424A:p.E142K	.	398	1112	11	1	0	13	0.00581135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0089	0.00219649	0.0070	0.0011	0.0026	0.0004	0.0041	0.0111	0.0049	0.0020	0.0067787	1048	154602	rs147703592	0.0090	0.0088	0.0091	0.0090	0.0104	0.0089	0.0088	0.0102	0.0102	0.0014	0.0039	0.0115	6.223e-05	0.0034	0.0066	0.0104	0.0080	0.0015	0.0079	0.0079	0.0084	0.0073	0.0132	0.0075	0.0073	0.0124	0.0122	0.0017	0.0220	0.0060	0.0164	0.0002	0.0037	0.0034	0.0132	0.0062	0.0014	0.069	0.35537	T	0.014	0.62352	D	0.138	0.27452	B	0.016	0.17743	B	0.083002	0.20777	U	0.511140	0.999999	0.08975	N	1.935	0.51832	L	1.36	0.34452	T	-2.59	0.55821	D	0.151	0.15469	-0.9419	0.42314	T	0.098	0.36625	T	10	0.00526312	0.00115	T	.	.	.	0.048	0.13305	.	.	0.136095386433	0.13204	0.3975602629419287	0.39671	0.22972423591	0.25525	0.470153927803	0.34701	T	0.077581	0.35688	T	-0.568007	0.00228	T	-0.57176	0.15288	T	0.0197675809484633	0.00678	T	0.840116	0.51512	T	0.1358145	0.31506	0.1271534	0.30614	0.1358145	0.31506	0.1271534	0.30613	-8.493	0.64383	D	.	.	0.117	0.23675	B	.	.	2.036393	0.25880	16.92	0.99695929006381323	0.80248	0.25870	0.22827	N	AEFGBCI	0.175292	0.30246	N	-0.506304372857282	0.21875	1.164149	-0.614733758531994	0.19114	1.024147	0.999990770488363	0.74766	0.706298	0.61202	0	0.643519	0.57511	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.15	2.29	0.27658	2.359000	0.43797	1.294000	0.25431	0.549000	0.26987	0.775000	0.29414	0.876000	0.27648	0.220000	0.22462	0.0:0.8178:0.0:0.1822	9.571	0.38591	895	0.25842	Zinc finger, DNL-type	.	.	PMPCA	Adipose_Visceral_Omentum	rs147703592	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007560	0.015306	0.005435	0.005848	0.000000	0.017241	0.009146	0.007576	0.05263	728.83	16	chr9	136362125	.	C	T	728.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.75;DP=591;ExcessHet=0.119;FS=2.027;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=-0.326;SOR=1.031	GT:AD:DP:GQ:PL	0/1:25,17:42:99:385,0,572	17	0	2	0
chr9	137022800	137022800	C	T	exonic	ABCA2	.	nonsynonymous SNV	ABCA2:NM_001606:exon5:c.G341A:p.R114Q,ABCA2:NM_212533:exon5:c.G431A:p.R144Q	.	423	1097	2	0	0	2	0.000910747	.	.	.	3512333	ABCA2-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.226	0.575949425692	.	.	0.0002	0	0.0005	0	0.0007	0.0001	0	0.0002	9.7e-05	15	154602	rs759220923	5.62e-05	5.814e-05	4.82e-05	6.432e-05	0.0011	4.608e-05	4.214e-05	0.0005	0.0003	6.034e-05	0.0002	0	0	0.0003	0.0011	3.534e-05	6.716e-05	7.23e-05	6.568e-05	6.562e-05	6.428e-05	6.714e-05	7.217e-05	3.515e-05	2.615e-05	1.973e-05	1.125e-05	7.217e-05	0	6.534e-05	0	0	0	0.0034	5.883e-05	0.0005	0	0.246	0.20988	T	0.333	0.18560	T	0.716	0.42206	P	0.085	0.29395	B	.	.	.	.	0.997482	0.43926	D	1.04	0.26193	L	-2.23	0.87116	D	-0.69	0.19933	N	0.435	0.47395	-0.0341	0.81544	T	0.552	0.83597	D	9	0.22045594	0.38743	T	0.575949	0.96183	D	0.226	0.52472	.	.	0.648076618867	0.64515	0.708650740759092	0.70807	0.262240623226	0.28788	0.742452383041	0.73334	T	0.298981	0.67153	T	-0.188455	0.22484	T	-0.21092	0.53608	T	0.0332360129120965	0.02510	T	0.950805	0.81197	D	0.11754622	0.27710	0.18254343	0.41188	0.11754622	0.27709	0.18254343	0.41187	-3.916	0.22542	T	.	.	0.100	0.26731	B	.;.;.;.	.;.;.;.	3.866145	0.56101	23.7	0.99811439259407875	0.89531	0.44747	0.27386	N	AEFGBI	0.569273	0.57412	D	-0.0613729917927657	0.39096	2.300133	-0.0572469360494168	0.37179	2.173336	0.999999999999976	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.459711	0.06710	0	0.562822	0.20929	0	.	.	4.25	4.25	0.49658	2.753000	0.47203	4.643000	0.44164	0.543000	0.25316	0.092000	0.22623	0.998000	0.33993	0.892000	0.42986	0.0:1.0:0.0:0.0	16.234	0.82186	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003046	0.005102	0.004076	0.002941	0.000000	0.000000	0.003125	0.000000	0.02632	2290.33	60	chr9	137022800	.	C	T	2290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=905;ExcessHet=0;FS=12.481;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.216;SOR=0.832	GT:AD:DP:GQ:PL	0/1:73,87:160:99:2304,0,1633	18	0	1	0
chr9	137497206	137497206	C	T	exonic	PNPLA7	.	nonsynonymous SNV	PNPLA7:NM_152286:exon17:c.G1919A:p.R640Q,PNPLA7:NM_001098537:exon18:c.G1994A:p.R665Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	0.280092052912	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs755074543	4.885e-06	1.026e-05	6.929e-06	2.812e-06	1.225e-05	2.03e-06	1.31e-06	1.33e-06	9.7e-07	0	0	0	0	0	0	4.548e-06	1.688e-05	1.225e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.006	0.70582	D	1.0	0.90584	D	0.996	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.06	0.26948	L	-3.07	0.92508	D	-2.89	0.60665	D	0.68	0.68690	0.682	0.92947	D	0.821	0.93994	D	10	0.88906217	0.88243	D	0.280092	0.90199	D	0.702	0.89284	0.538	0.64874	0.631521412514	0.62851	0.6483750606235364	0.64773	0.75264742166	0.63853	0.571888923645	0.48945	T	0.507143	0.82502	D	0.148023	0.69083	D	-0.0251522	0.68690	D	0.987282991409302	0.77810	D	0.994238	0.98092	D	0.4286079	0.62661	0.33260092	0.59106	0.4286079	0.62661	0.33260092	0.59106	-9.473	0.70840	D	.	.	0.245	0.59893	B	.;.	.;.	3.702871	0.52822	23.3	0.99928796478453707	0.99222	0.94805	0.62390	D	AEFDGB	0.791985	0.72041	D	0.439541694933995	0.63611	4.598383	0.368823932905209	0.59649	4.144638	0.999999999846372	0.74766	0.580535	0.33130	0	0.626922	0.53725	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.32	4.32	0.50899	5.806000	0.68817	5.565000	0.48927	0.530000	0.24713	1.000000	0.71638	1.000000	0.68203	0.131000	0.19607	0.0:1.0:0.0:0.0	16.135	0.81287	994	0.00715	Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	671.33	33	chr9	137497206	.	C	T	671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=673;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=1.1;SOR=0.709	GT:AD:DP:GQ:PL	0/1:32,28:60:99:685,0,704	18	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	3198.86	113	chr10	825249	.	T	C	3198.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.463;DP=2358;ExcessHet=31.086;FS=172.694;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.83;SOR=12.863	GT:AD:DP:GQ:PL	0/1:90,46:136:99:342,0,1608	2	0	17	0
chr10	3129913	3129913	-	G	exonic	PFKP	.	frameshift insertion	PFKP:NM_001323070:exon11:c.978dupG:p.L329Afs*6,PFKP:NM_001323074:exon12:c.1131dupG:p.L380Afs*6,PFKP:NM_001323073:exon13:c.1131dupG:p.L380Afs*6,PFKP:NM_001323068:exon16:c.1626dupG:p.L545Afs*6,PFKP:NM_001323067:exon17:c.1698dupG:p.L569Afs*6,PFKP:NM_001323069:exon17:c.1272dupG:p.L427Afs*6,PFKP:NM_001345944:exon17:c.1665dupG:p.L558Afs*6,PFKP:NM_002627:exon17:c.1779dupG:p.L596Afs*6,PFKP:NM_001323071:exon18:c.1665dupG:p.L558Afs*6,PFKP:NM_001323072:exon18:c.1665dupG:p.L558Afs*6,PFKP:NM_001242339:exon19:c.1755dupG:p.L588Afs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	9.932e-05	0.0002	0	0	0.0004	0	0	3.84e-05	1	26028	rs778076670	2.946e-05	0.0001	2.999e-05	2.893e-05	6.737e-05	2.22e-05	1.973e-05	1.787e-05	1.031e-05	2.991e-05	6.737e-05	0	2.524e-05	0.0003	0	1.89e-05	0	1.161e-05	4.605e-05	4.598e-05	5.144e-05	4.04e-05	0.0003	2.111e-05	1.528e-05	8.879e-05	5.388e-05	4.832e-05	0	0.0003	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1321.29	100	chr10	3129913	.	T	TG	1321.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=1445;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.405;SOR=0.651	GT:AD:DP:GQ:PL	0/1:67,63:130:99:1335,0,1672	18	0	1	0
chr10	15572324	15572324	C	T	exonic	ITGA8	.	nonsynonymous SNV	ITGA8:NM_001291494:exon24:c.G2479A:p.V827M,ITGA8:NM_003638:exon25:c.G2524A:p.V842M	Renal hypodysplasia/aplasia 1, Autosomal recessive	426	1088	8	0	0	8	0.003663	.	.	.	2092814	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.354	0.0403543211114	.	.	0.0003	0	0.0005	0	0	0.0001	0.0022	0.0014	0.0002781	43	154602	rs202138436	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	0	0.0004	0.0003	0	0	0.0010	4.586e-05	0.0003	0.0014	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	0	0	0.0006	0.0009	0	0	0	0.0001	0.0005	0.0008	0.009	0.57480	D	0.019	0.59159	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.1	0.87590	M	0.57	0.54347	T	-1.3	0.32590	N	0.751	0.75009	-0.3339	0.74020	T	0.367	0.72704	T	10	0.37797797	0.53977	T	0.040354	0.59331	D	0.354	0.67510	0.619	0.75347	0.676231033367	0.67348	0.725694626815019	0.72513	0.41740265209	0.42361	0.660179138184	0.61436	T	0.137438	0.47037	T	-0.0971636	0.36893	T	0.0575757	0.74084	D	0.191917636465701	0.19957	T	0.906109	0.66926	D	0.2030333	0.42367	0.3000984	0.56043	0.2030333	0.42367	0.3000984	0.56042	-7.745	0.59320	D	.	.	0.354	0.56838	A	.	.	4.753517	0.76787	26.6	0.99908217761632967	0.97801	0.95472	0.64857	D	AEFI	0.828834	0.74786	D	0.84229065314744	0.88664	9.664416	0.82643004534023	0.91569	10.95305	0.999999983766646	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.79	5.79	0.91751	6.347000	0.72953	7.652000	0.63756	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	18.808	0.92015	897	0.25382	Integrin alpha-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1464.33	33	chr10	15572324	.	C	T	1464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.473;DP=753;ExcessHet=0;FS=0.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=2.03;SOR=0.79	GT:AD:DP:GQ:PL	0/1:74,63:137:99:1478,0,1911	18	0	1	0
chr10	16505156	16505156	A	T	exonic	PTER	.	stopgain	PTER:NM_001261838:exon3:c.A388T:p.R130X,PTER:NM_001261836:exon4:c.A835T:p.R279X,PTER:NM_001001484:exon5:c.A835T:p.R279X,PTER:NM_030664:exon5:c.A835T:p.R279X	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.251e-06	0	0	0	0	0	0	6.086e-05	6.5e-06	1	154602	rs769620860	8.895e-06	8.893e-06	8.169e-06	9.628e-06	0.0001	4.96e-06	3.82e-06	8.001e-05	6.239e-05	0	0	0	0	0	0	8.994e-07	0	0.0001	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.006521	0.31983	N	0.399127	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380379	0.88733	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive	High;.;High	8.697595	0.97900	38	0.99805971105743763	0.88995	0.81551	0.40932	D	AEDGBI	0.217995	0.34305	N	0.821516688675654	0.87432	9.215971	0.67202448164649	0.80258	7.259596	0.998265856017645	0.36664	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.11	5.11	0.69188	2.334000	0.43579	4.424000	0.43326	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.7623:0.0:0.0862:0.1515	5.747	0.17392	892	0.26670	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	772.33	48	chr10	16505156	.	A	T	772.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.605;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-2.291;SOR=0.6	GT:AD:DP:GQ:PL	0/1:46,29:75:99:786,0,1243	18	0	1	0
chr10	24473904	24473904	G	A	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001282769:exon2:c.G677A:p.R226H,KIAA1217:NM_001282770:exon2:c.G677A:p.R226H,KIAA1217:NM_001321681:exon2:c.G677A:p.R226H,KIAA1217:NM_001282767:exon6:c.G1523A:p.R508H,KIAA1217:NM_001282768:exon6:c.G1523A:p.R508H,KIAA1217:NM_019590:exon6:c.G1523A:p.R508H,KIAA1217:NM_001098500:exon7:c.G1283A:p.R428H	.	435	1062	23	2	0	27	0.0125523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531	.	0.0042	0.00279553	0.0057	0.0011	0.0034	0.0003	0.0032	0.0069	0.0044	0.0098	0.0056532	874	154602	rs41279868	0.0067	0.0067	0.0066	0.0067	0.0102	0.0066	0.0065	0.0097	0.0095	0.0011	0.0023	0.0024	5.038e-05	0.0042	0.0080	0.0072	0.0061	0.0102	0.0039	0.0039	0.0042	0.0037	0.0108	0.0037	0.0036	0.0085	0.0076	0.0007	0.0088	0.0024	0.0023	0.0002	0.0030	0.0068	0.0061	0.0061	0.0108	0.0	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.047397	0.999999	0.81001	D	2.485	0.72352	M	0.67	0.52187	T	-4.21	0.78046	D	0.783	0.81261	-0.4162	0.71513	T	0.263	0.63361	T	10	0.007798493	0.00177	T	.	.	.	0.531	0.80247	.	.	0.731578513301	0.72918	0.4624375204723641	0.46161	0.633570060492	0.57251	0.573865771294	0.49224	T	0.261078	0.89468	T	-0.0933595	0.37521	T	0.100938	0.76970	D	0.0433894866553355	0.04310	T	0.973903	0.93484	D	0.6997425	0.78042	0.53233963	0.72977	0.6997425	0.78044	0.53233963	0.72978	-8.704	0.76230	D	.	.	0.378	0.65221	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.210104	0.87424	29.2	0.99955902370276051	0.99975	0.99064	0.90698	D	AEFBCI	0.930736	0.91849	D	0.866259133105656	0.90014	10.21514	0.827265161731744	0.91621	10.98079	0.999999999319612	0.74766	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.37	5.37	0.76949	9.211000	0.94222	9.905000	0.82381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:0.0:1.0:0.0	19.094	0.93225	943	0.12886	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.002924	0.000000	0.008621	0.003049	0.018939	0.02632	1597.33	38	chr10	24473904	.	G	A	1597.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.074;DP=797;ExcessHet=0;FS=0.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.067;SOR=0.631	GT:AD:DP:GQ:PL	0/1:91,64:155:99:1611,0,2386	18	0	1	0
chr10	25412396	25412396	A	G	exonic	GPR158	.	nonsynonymous SNV	GPR158:NM_020752:exon4:c.A1258G:p.I420V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.00580834291211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1399001129	2.053e-06	1.026e-05	2.724e-06	1.376e-06	2.236e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.236e-05	0	0	0	0	1.8e-06	0	0	6.57e-06	6.567e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.92	0.02309	T	1.0	0.01155	T	0.008	0.14655	B	0.009	0.14300	B	0.000003	0.62929	D	0.000000	0.999426	0.47006	D	0.6	0.15550	N	0.18	0.60361	T	0.44	0.03243	N	0.27	0.30574	-0.9792	0.35186	T	0.087	0.33662	T	10	0.1521804	0.28750	T	0.005808	0.15101	T	0.171	0.43483	0.448	0.50793	0.161926535498	0.15789	0.3829631867473734	0.38211	0.0840598745579	0.09481	0.538012385368	0.44165	T	0.017669	0.14377	T	-0.0274371	0.47788	T	-0.277188	0.47092	T	0.737176895141602	0.42586	D	0.822218	0.48193	T	0.105158724	0.24861	0.12171046	0.29365	0.105158724	0.24861	0.12171046	0.29364	-5.917	0.45579	T	.	.	0.067	0.04932	B	.;.	.;.	2.077376	0.26423	17.11	0.68464587669978927	0.08666	0.88581	0.48576	D	AEFI	0.384824	0.46580	N	-0.305378770948769	0.28943	1.600737	-0.0121809945739852	0.39164	2.317966	0.184655415091531	0.17919	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.16	6.16	0.99302	4.720000	0.61636	9.251000	0.79490	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.806	0.85530	832	0.38914	.;GPCR family 3, 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	.	.	.	.	.	.	.	.	0.07895	493.79	37	chr10	25412396	.	A	G	493.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.433;DP=1099;ExcessHet=0.3672;FS=177.802;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.3;ReadPosRankSum=0.806;SOR=9.507	GT:AD:DP:GQ:PL	0/1:82,27:109:80:80,0,1675	16	0	3	0
chr10	26153916	26153916	T	A	exonic	MYO3A	.	nonsynonymous SNV	MYO3A:NM_017433:exon24:c.T2702A:p.I901N	Deafness, autosomal recessive 30, Autosomal recessive	9	1509	3	1	0	5	0.00165399	.	.	.	1187573	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.187	0.0877569324189	.	.	0.0003	0	9.024e-05	0	0	4.759e-05	0.0012	0.0017	0.000207	32	154602	rs201572198	0.0001	0.0001	4.708e-05	0.0002	0.0015	9.956e-05	9.363e-05	0.0013	0.0012	0	4.48e-05	0	0	0	0.0002	2.106e-05	0.0001	0.0015	0.0002	0.0002	7.709e-05	0.0003	0.0048	0.0001	0.0001	0.0033	0.0028	2.405e-05	0	0	0	0	0	0	2.94e-05	0	0.0048	0.026	0.46910	D	0.48	0.11899	T	0.464	0.36423	P	0.219	0.37734	B	0.617288	0.05735	N	1.169820	1	0.08975	N	0.765	0.19305	N	-2.16	0.86549	D	-1.52	0.36980	N	0.479	0.51405	-0.6805	0.61349	T	0.428	0.77094	T	10	0.020038426	0.00456	T	0.087757	0.75000	D	0.187	0.46274	0.404	0.43573	0.675970969783	0.67322	0.37793496893378564	0.37708	0.159575760648	0.18006	0.391041517258	0.23817	T	0.232549	0.59914	T	-0.360446	0.04105	T	-0.331065	0.41350	T	0.0411437831546965	0.03898	T	0.690631	0.30012	T	0.12899847	0.30142	0.14977875	0.35351	0.18969378	0.40522	0.1897173	0.42332	-2.183	0.03959	T	.	.	0.076	0.05935	B	.;.	.;.	2.092374	0.26615	17.18	0.93529487529899791	0.23350	0.58835	0.30750	D	AEGI	0.161895	0.28801	N	-0.607299151877301	0.18723	0.9744044	-0.590975205133298	0.19727	1.059745	4.97661112905357E-5	0.03989	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.58	0.146	0.14129	0.403000	0.20706	0.071000	0.14262	0.665000	0.62972	0.953000	0.33222	0.000000	0.08366	0.925000	0.46118	0.0:0.4238:0.0:0.5762	9.601	0.38765	914	0.21048	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor 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	.	.	.	.	.	.	.	.	0.02632	1150.33	34	chr10	26153916	.	T	A	1150.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.181;DP=700;ExcessHet=0;FS=5.696;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-1.34;SOR=1.312	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1164,0,970	18	0	1	0
chr10	26709708	26709708	T	G	exonic	PDSS1	.	nonsynonymous SNV	PDSS1:NM_001321978:exon5:c.T407G:p.F136C,PDSS1:NM_014317:exon5:c.T407G:p.F136C	Coenzyme Q10 deficiency, primary, 2, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	142384	PDSS1-related_disorder|not_provided|not_specified|Deafness-encephaloneuropathy-obesity-valvulopathy_syndrome	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013837,MedGen:C3553354,OMIM:614651,Orphanet:254898	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.634	.	0.0008	0.013778	0.0090	0.0013	0.0626	0.0221	0	0.0002	0.0055	0.0090	0.0085769	1326	154602	rs77826284	0.0032	0.0032	0.0032	0.0032	0.0602	0.0031	0.0031	0.0583	0.0576	0.0006	0.0602	0	0.0236	0	0.0003	8.995e-05	0.0028	0.0090	0.0057	0.0057	0.0048	0.0068	0.0409	0.0054	0.0053	0.0383	0.0372	0.0013	0	0.0409	0	0.0253	0	0	0.0001	0.0033	0.0095	0.005	0.63226	D	0.01	0.65728	D	0.988	0.62325	D	0.886	0.62898	P	0.000002	0.62929	D	0.100250	0.999999	0.58761	D	3.155	0.88459	M	-0.03	0.63077	T	-4.24	0.76015	D	0.776	0.77319	-0.2788	0.75574	T	0.184	0.53225	T	10	0.016029805	0.00337	T	.	.	.	0.634	0.85975	.	.	.	.	0.8971605862087001	0.89687	1.48208250732	0.86723	0.515962660313	0.41058	T	0.845572	0.96437	D	-0.164683	0.26042	T	0.0377814	0.72782	D	0.0411972203824482	0.03907	T	0.952205	0.81731	D	0.93855476	0.95100	0.840415	0.90865	0.92850614	0.94088	0.840415	0.90866	-11.524	0.82456	D	0.7433915605781065	0.82547	0.708	0.73301	P	.	.	5.066377	0.84472	28.3	0.99550268473746251	0.71086	0.97863	0.77695	D	AEFDBI	0.930732	0.91847	D	0.831021594565277	0.88001	9.417777	0.781511075983812	0.88479	9.597732	0.999982022486272	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.525792	0.08840	0	.	.	5.26	5.26	0.73479	7.627000	0.82366	6.181000	0.54632	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.124	0.72149	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	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1022.33	34	chr10	26709708	.	T	G	1022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.452;DP=778;ExcessHet=0;FS=0.749;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-1.702;SOR=0.59	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1036,0,1253	18	0	1	0
chr10	29530647	29530647	C	T	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_001323600:exon10:c.G884A:p.R295Q,SVIL:NM_003174:exon10:c.G884A:p.R295Q,SVIL:NM_021738:exon11:c.G2066A:p.R689Q,SVIL:NM_001323599:exon12:c.G1136A:p.R379Q	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.037088609864	.	0.000199681	4.942e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs528457608	2.394e-05	2.394e-05	1.361e-05	3.438e-05	0.0003	1.739e-05	1.539e-05	0.0003	0.0002	5.975e-05	2.236e-05	0	0	0	0	1.799e-06	0	0.0003	1.313e-05	1.312e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0	0	0	0	0	0.0002	0.007	0.91255	D	0.008	0.67890	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999895	0.52935	D	1.845	0.48678	L	-0.19	0.65931	T	-2.33	0.54702	N	0.814	0.80964	-0.1888	0.77958	T	0.454	0.78697	T	9	0.3523305	0.52064	T	0.037089	0.57399	D	0.330	0.65226	0.218	0.13932	0.525714745541	0.52218	0.19749533526864108	0.19666	0.937855584435	0.72103	0.513355910778	0.40691	T	0.163101	0.50803	T	-0.0386358	0.46153	T	0.00704972	0.70793	D	0.558598935604095	0.34802	D	0.969603	0.89085	D	0.62788785	0.74185	0.54111	0.73478	0.62788785	0.74186	0.54111	0.73479	-11.882	0.84271	D	0.7360478524938738	0.81794	0.342	0.67428	A	.;.;.	.;.;.	4.853052	0.79340	27.1	0.99959555143618806	0.99994	0.97351	0.74201	D	AEFDBHCI	0.867796	0.78770	D	0.761676816128957	0.83662	8.076751	0.723566727596967	0.84169	8.217487	0.999999999993266	0.74766	0.743674	0.98306	0	0.588015	0.36545	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	7.343000	0.78559	7.705000	0.66497	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.887000	0.42601	0.0:1.0:0.0:0.0	19.571	0.95412	968	0.07033	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1526.33	35	chr10	29530647	.	C	T	1526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=789;ExcessHet=0;FS=3.929;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.26;SOR=0.438	GT:AD:DP:GQ:PL	0/1:87,64:151:99:1540,0,1994	18	0	1	0
chr10	35569106	35569106	G	T	exonic	CCNY	.	nonsynonymous SNV	CCNY:NM_001282854:exon8:c.G563T:p.R188M,CCNY:NM_001282852:exon9:c.G887T:p.R296M,CCNY:NM_145012:exon10:c.G962T:p.R321M,CCNY:NM_001282853:exon11:c.G800T:p.R267M,CCNY:NM_181698:exon12:c.G800T:p.R267M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.00882485530928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.375	0.16231	T	0.0	0.02946	B	0.001	0.08700	B	0.000000	0.84330	D	0.042650	0.98485	0.41244	D	0.36	0.11994	N	1.56	0.29602	T	1.39	0.00846	N	0.322	0.36254	-0.9867	0.33420	T	0.019	0.07753	T	10	0.12148544	0.23031	T	0.008825	0.23269	T	0.161	0.41658	0.246	0.18139	0.280987212366	0.27714	0.5361074457972772	0.53535	1.13560500153	0.78775	0.547749519348	0.45540	T	0.014821	0.12548	T	-0.137447	0.30297	T	-0.435209	0.29345	T	0.756519436836243	0.43652	D	0.693131	0.30283	T	0.10552424	0.24949	0.089434214	0.20914	0.10552424	0.24949	0.089434214	0.20914	-6.746	0.54703	T	.	.	0.299	0.52897	B	.;.;.;.	.;.;.;.	2.895400	0.38363	20.7	0.23060944698648969	0.00957	0.91600	0.53868	D	AEFBI	0.643116	0.61984	D	-0.546929793815462	0.20580	1.085937	-0.278871402341639	0.28795	1.608287	0.999994684887892	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.41	5.41	0.78313	5.133000	0.64605	9.882000	0.82206	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.103000	0.18424	0.2101:0.0:0.7899:0.0	7.057	0.24285	738	0.53389	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1819.33	34	chr10	35569106	.	G	T	1819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=808;ExcessHet=0;FS=3.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=1.2;SOR=0.886	GT:AD:DP:GQ:PL	0/1:88,76:164:99:1833,0,2050	18	0	1	0
chr10	37219328	37219328	G	C	exonic	ANKRD30A	.	nonsynonymous SNV	ANKRD30A:NM_052997:exon34:c.G3448C:p.V1150L	.	433	1085	4	0	0	4	0.00183993	.	.	.	2813105	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.035	.	0.0079	0.00239617	0.0049	0.0011	0.0024	0	0.0067	0.0075	0.0067	0.0005	0.005084	786	154602	rs141194244	0.0078	0.0078	0.0081	0.0075	0.0092	0.0076	0.0076	0.0091	0.0090	0.0011	0.0044	0.0002	2.524e-05	0.0084	0.0009	0.0092	0.0065	0.0003	0.0056	0.0057	0.0060	0.0053	0.0090	0.0053	0.0052	0.0084	0.0081	0.0016	0.0055	0.0062	0.0003	0	0.0061	0	0.0090	0.0062	0.0004	1.0	0.00964	T	0.606	0.08685	T	0.003	0.11197	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	-0.175	0.04276	N	2.6	0.13204	T	0.32	0.04947	N	0.06	0.04072	-1.0334	0.19363	T	0.005	0.01797	T	9	0.0032106042	0.00054	T	.	.	.	0.035	0.08770	0.099	0.01433	0.24896430686	0.24499	0.0037765409491487202	0.00353	0.0101513420452	0.00935	0.852703332901	0.90021	D	7.85E-4	0.01280	T	-0.778916	0.00011	T	-0.882241	0.00636	T	0.00158593337672642	0.00016	T	0.0606939	0.00442	T	0.02054487	0.00617	0.050194535	0.07829	0.02054487	0.00616	0.050194535	0.07828	-2.167	0.03883	T	.	.	0.122	0.28174	B	.;.;.;.	.;.;.;.	-1.771295	0.00167	0.002	0.095252430492617654	0.00099	0.01156	0.04174	N	AEFDGHCI	0.048171	0.08193	N	-2.64983901548805	0.00007	0.0003103052	-2.65668300258864	0.00010	0.000441523	0.999999980139621	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.81	-5.61	0.02291	-0.350000	0.07769	-20.000000	0.00162	-5.589000	0.00009	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.1614:0.2576:0.3258:0.2552	1.181	0.01733	934	0.15400	CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.010101	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1946.33	132	chr10	37219328	.	G	C	1946.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.73;DP=1229;ExcessHet=0;FS=4.311;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-1.355;SOR=1.017	GT:AD:DP:GQ:PL	0/1:114,74:188:99:1960,0,3005	18	0	1	0
chr10	50104143	50104143	G	C	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737C:p.E579D,WASHC2A:NM_001291398:exon18:c.G1737C:p.E579D,WASHC2A:NM_001330102:exon18:c.G1737C:p.E579D	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0028	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	0.0002	2.474e-05	0.0002	7.586e-05	0	0.0005	0.0006	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.37966	T	0.221	0.40110	T	0.99	0.68779	D	0.547	0.64423	P	0.000196	0.48115	D	0.177367	0.999984	0.54805	D	.	.	.	.	.	.	-1.59	0.38345	N	0.186	0.31027	-0.6951	0.60670	T	0.262	0.63350	T	9	0.10016841	0.18224	T	0.007039	0.18649	T	0.051	0.14325	0.155	0.05858	0.043077524339	0.03247	0.022149042639061214	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.02398	0.48284	T	-0.272222	0.47596	T	0.870236992835999	0.52015	D	0.754025	0.40374	T	0.065394446	0.13970	0.08041676	0.18189	0.065394446	0.13970	0.08041676	0.18189	-6.64	0.51357	T	.	.	0.173	0.37914	B	.;.;.;.;.	.;.;.;.;.	5.655948	0.92841	33	0.99770114452793413	0.85834	0.83358	0.42481	D	AEFI	0.285651	0.39823	N	0.0769491637248871	0.45389	2.796276	0.0072360960145605	0.40050	2.384071	7.07449565220211E-5	0.04366	0.706548	0.73137	0	0.670034	0.63936	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	3.2	0.35826	3.444000	0.52678	8.361000	0.77030	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2333	1477.75	133	chr10	50104143	.	G	C	1477.75	.	AC=7;AF=0.233;AN=30;BaseQRankSum=-1.885;DP=1275;ExcessHet=5.3738;FS=165.811;InbreedingCoeff=-0.429;MLEAC=8;MLEAF=0.267;MQ=56.17;MQRankSum=0.546;QD=2.07;ReadPosRankSum=1.01;SOR=10.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,20:62:99:0|1:50104141_G_C:124,0,1431:50104141	8	0	7	4
chr10	50104144	50104144	G	A	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>A;NM_001330102:exon18:c.1737+1G>A;NM_001005751:exon18:c.1737+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0463318	0.57869	T	-0.171224	0.57330	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.720867	0.93226	33	0.97432250228662731	0.33931	0.91899	0.54504	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	1433.55	133	chr10	50104144	.	G	A	1433.55	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-3.127;DP=1257;ExcessHet=5.3738;FS=151.293;InbreedingCoeff=-0.3711;MLEAC=3;MLEAF=0.088;MQ=55.97;MQRankSum=0.546;QD=2.01;ReadPosRankSum=0.853;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,20:62:99:0|1:50104141_G_C:124,0,1431:50104141	14	0	3	2
chr10	70730135	70730135	C	T	exonic	ADAMTS14	.	nonsynonymous SNV	ADAMTS14:NM_080722:exon6:c.C988T:p.R330C,ADAMTS14:NM_139155:exon6:c.C988T:p.R330C	.	405	1084	32	1	0	34	0.0154405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	.	0.0028	0.00279553	0.0039	0.0009	0.0007	0	0.0008	0.0036	0.0022	0.0127	0.0037516	580	154602	rs41307534	0.0038	0.0038	0.0035	0.0041	0.0122	0.0037	0.0037	0.0116	0.0114	0.0005	0.0009	0.0025	2.52e-05	0.0014	0.0089	0.0036	0.0028	0.0122	0.0025	0.0025	0.0026	0.0025	0.0099	0.0023	0.0022	0.0077	0.0069	0.0006	0.0242	0.0010	0.0032	0	0.0008	0.0102	0.0036	0.0033	0.0099	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.985	0.76457	D	0.000013	0.62929	D	0.065417	0.999946	0.51968	D	2.275	0.64647	M	-0.07	0.63738	T	-5.92	0.88963	D	0.905	0.91047	-0.3974	0.72109	T	0.286	0.65802	T	10	0.012337029	0.00265	T	.	.	.	0.406	0.71869	.	.	0.836419884851	0.83485	0.6708937866827652	0.67027	0.81188555165	0.66771	0.749727368355	0.74406	T	0.326422	0.69704	T	-0.0241255	0.48263	T	0.204	0.83325	D	0.0422191017684646	0.04096	T	0.976302	0.91743	D	0.7497674	0.80855	0.60920113	0.77271	0.7497674	0.80856	0.60920113	0.77272	-13.021	0.89451	D	.	.	0.353	0.56799	A	.;.	.;.	5.829889	0.93735	33	0.99937741511229405	0.99661	0.93661	0.58832	D	AEFDGBI	0.653893	0.62677	D	0.632925660855265	0.75266	6.276043	0.588476998448334	0.74112	6.082002	0.999988406298321	0.51787	0.600919	0.35232	0	0.573888	0.26702	0	0.640751	0.46059	0	0.564101	0.26826	0	.	.	4.7	3.73	0.41982	3.928000	0.56220	3.201000	0.36751	0.599000	0.40250	0.998000	0.41325	0.997000	0.33255	0.997000	0.79791	0.2573:0.7427:0.0:0.0	12.841	0.57185	324	0.86790	.;Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004040	0.000000	0.004076	0.000000	0.000000	0.000000	0.009259	0.007576	0.02632	1567.33	36	chr10	70730135	.	C	T	1567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=737;ExcessHet=0;FS=1.663;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=-0.777;SOR=0.943	GT:AD:DP:GQ:PL	0/1:43,57:100:99:1581,0,992	18	0	1	0
chr10	71344242	71344242	A	G	exonic	SLC29A3	.	nonsynonymous SNV	SLC29A3:NM_001174098:exon3:c.A334G:p.T112A,SLC29A3:NM_001363518:exon3:c.A100G:p.T34A,SLC29A3:NM_018344:exon3:c.A334G:p.T112A	Histiocytosis-lymphadenopathy plus syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	724048	H_syndrome	MONDO:MONDO:0011273,MedGen:C1864445,OMIM:602782,Orphanet:168569	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.217	0.027431685721	.	0.000998403	0.0007	0	0	0	0	0	0	0.0050	0.0005821	90	154602	rs374212391	0.0003	0.0003	0.0001	0.0005	0.0049	0.0003	0.0003	0.0045	0.0044	0	2.236e-05	0	0	0	0.0007	6.295e-06	0.0004	0.0049	0.0002	0.0002	0.0001	0.0002	0.0052	0.0001	0.0001	0.0036	0.0031	2.405e-05	0	0	0	0.0002	0	0	0	0.0005	0.0052	0.225	0.18626	T	.	.	.	0.113	0.26349	B	0.082	0.29098	B	0.000006	0.62929	D	0.108195	0.999936	0.51612	D	1.65	0.42232	L	0.3	0.58755	T	-1.51	0.36787	N	0.739	0.73916	-0.8451	0.52304	T	0.134	0.44720	T	9	0.009996265	0.00224	T	0.027432	0.50240	D	0.217	0.51112	.	.	0.75022782409	0.74797	0.48163511369214573	0.48083	0.075613997017	0.08487	0.512372612953	0.40554	T	0.034295	0.23266	T	-0.213021	0.18955	T	-0.0780886	0.65044	T	0.0533908166309095	0.06086	T	0.728927	0.37065	T	0.06247559	0.13051	0.06758331	0.14001	0.06960436	0.15262	0.0659479	0.13437	-6.402	0.49525	T	.	.	0.092	0.13690	B	.;.;.	.;.;.	3.124431	0.42199	21.5	0.97048663603718566	0.32142	0.95123	0.63522	D	AEFDBCI	0.665268	0.63414	D	-0.278623791612106	0.29976	1.667153	-0.0890588334334357	0.35841	2.078408	0.999999975544119	0.74766	0.714207	0.82060	0	0.633656	0.55848	0	0.648423	0.49468	0	0.655142	0.61905	0	.	.	5.89	4.74	0.59717	5.349000	0.65779	6.812000	0.56651	-0.819000	0.02980	1.000000	0.71638	1.000000	0.68203	0.760000	0.36145	0.8631:0.0:0.0:0.1369	11.192	0.47919	922	0.19044	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1039.33	139	chr10	71344242	.	A	G	1039.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=1575;ExcessHet=0;FS=0.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.02;ReadPosRankSum=0.912;SOR=0.778	GT:AD:DP:GQ:PL	0/1:100,48:148:99:1053,0,2584	18	0	1	0
chr10	71725421	71725421	G	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon29:c.G3480T:p.M1160I,CDH23:NM_022124:exon29:c.G3480T:p.M1160I	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1497	24	0	1	25	0.00795229	.	.	YES	55084	not_specified|not_provided|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_12	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.054	.	8e-05	0.00219649	0.0022	0.0001	0.0003	0.0002	0	0.0002	0.0011	0.0148	0.0018176	281	154602	rs111033519	0.0010	0.0010	0.0006	0.0015	0.0142	0.0010	0.0010	0.0136	0.0133	2.987e-05	2.236e-05	0.0003	2.519e-05	0	0.0029	0.0002	0.0011	0.0142	0.0005	0.0005	0.0003	0.0008	0.0133	0.0004	0.0004	0.0107	0.0097	2.406e-05	0	6.533e-05	0	0	0	0.0034	0.0002	0	0.0133	.	.	.	0.514	0.26306	T	0.004	0.12183	B	0.013	0.16460	B	0.001150	0.40056	N	0.208576	1	0.81001	D	-0.67	0.02046	N	.	.	.	.	.	.	0.509	0.54059	-1.0268	0.21494	T	0.112	0.40052	T	9	0.007078856	0.00161	T	.	.	.	0.054	0.15330	0.475	0.55182	0.779814296898	0.77778	0.2157758739904076	0.21493	.	.	0.341554939747	0.16671	T	0.002114	0.37696	T	-0.38314	0.02976	T	-0.310807	0.43571	T	0.0534730017488531	0.06100	T	0.888711	0.61924	D	0.5319244	0.68940	0.5611373	0.74607	0.53026617	0.68846	0.5982625	0.76669	-1.621	0.02031	T	.	.	0.282	0.51489	B	.;.;.;.	.;.;.;.	3.312176	0.45517	22.1	0.9708094472198836	0.32281	0.92845	0.56686	D	AEFDBI	0.550311	0.56283	D	-0.240729420628005	0.31474	1.765275	-0.0102873979785231	0.39250	2.324314	0.999999440875665	0.74766	0.403107	0.06075	0	0.491513	0.07743	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.16	5.16	0.70563	2.078000	0.41191	9.940000	0.82649	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.639	0.91347	826	0.39940	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.002924	0.050000	0.008621	0.003049	0.011364	0.02632	1569.33	38	chr10	71725421	.	G	T	1569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=827;ExcessHet=0;FS=0.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.282;SOR=0.625	GT:AD:DP:GQ:PL	0/1:82,62:144:99:1583,0,2128	18	0	1	0
chr10	87158132	87158132	A	G	exonic	SHLD2	.	nonsynonymous SNV	SHLD2:NM_001377158:exon3:c.A1610G:p.Y537C,SHLD2:NM_001330112:exon4:c.A1610G:p.Y537C,SHLD2:NM_001377161:exon4:c.A1610G:p.Y537C,SHLD2:NM_001377163:exon4:c.A1610G:p.Y537C,SHLD2:NM_001377166:exon4:c.A563G:p.Y188C,SHLD2:NM_001377169:exon4:c.A563G:p.Y188C,SHLD2:NM_001377170:exon4:c.A206G:p.Y69C,SHLD2:NM_001377171:exon4:c.A563G:p.Y188C,SHLD2:NM_001377172:exon4:c.A563G:p.Y188C,SHLD2:NM_019054:exon4:c.A1610G:p.Y537C,SHLD2:NM_001377159:exon5:c.A1610G:p.Y537C,SHLD2:NM_001377160:exon5:c.A1754G:p.Y585C,SHLD2:NM_001377167:exon5:c.A563G:p.Y188C,SHLD2:NM_001377168:exon5:c.A563G:p.Y188C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.0187426667437	0.0006	0.00219649	0.0003	0.0030	0	0	0	0	0	0	0.0002458	38	154602	rs146657981	8.5e-05	8.619e-05	8.866e-05	8.13e-05	0.0029	7.223e-05	6.81e-05	0.0024	0.0023	0.0029	2.238e-05	0	0	0	0.0005	0	0.0003	9.293e-05	0.0006	0.0006	0.0006	0.0006	0.0021	0.0005	0.0005	0.0018	0.0016	0.0021	0	0.0001	0	0	0	0	0	0.0005	0.0006	0.198	0.23271	T	0.143	0.33219	T	0.046	0.21875	B	0.019	0.18783	B	0.158030	0.17752	U	0.506557	0.709361	0.30028	N	.	.	.	-0.07	0.63738	T	-2.1	0.47852	N	0.447	0.48504	-1.0277	0.21200	T	0.051	0.21495	T	10	0.008651972	0.00196	T	0.018743	0.40901	T	0.195	0.47612	.	.	0.591260992463	0.58802	0.5553409401039047	0.55461	0.807762257892	0.66579	0.38012945652	0.22275	T	0.006969	0.06393	T	-0.357996	0.04244	T	-0.29194	0.45571	T	0.0164517690043455	0.00411	T	0.792521	0.49049	T	0.09205017	0.21584	0.10484334	0.25189	0.09205017	0.21584	0.10484334	0.25189	-3.535	0.16926	T	.	.	0.09	0.12607	B	.;.	.;.	2.188226	0.27896	17.62	0.98646983584494907	0.44137	0.36714	0.25597	N	AEFBI	0.083825	0.16985	N	-0.522601451431109	0.21351	1.132419	-0.473801708609597	0.22879	1.244867	1.02060797818286E-5	0.01202	0.608746	0.35421	0	0.627608	0.54475	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	3.47	1.1	0.19578	1.902000	0.39479	6.851000	0.56739	0.684000	0.82519	0.988000	0.36536	1.000000	0.68203	0.996000	0.76049	0.5726:0.0:0.2183:0.2091	2.719	0.04875	937	0.14592	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1708.33	35	chr10	87158132	.	A	G	1708.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.049;DP=779;ExcessHet=0;FS=1.289;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.46;MQRankSum=-0.549;QD=11.09;ReadPosRankSum=-1.507;SOR=0.576	GT:AD:DP:GQ:PL	0/1:87,67:154:99:1722,0,2383	18	0	1	0
chr10	87232887	87232887	G	C	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon5:c.G1636C:p.E546Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00513057634404	.	0.00239617	0.0013	0.0069	0	0	0	0	0	0	0.0006531	17	26028	rs2767117	0.0009	0.0012	0.0011	0.0007	0.0282	0.0008	0.0008	0.0266	0.0260	0.0282	0.0012	0	0	0	0.0011	1.531e-05	0.0020	0.0002	0.0094	0.0093	0.0093	0.0096	0.0314	0.0090	0.0088	0.0300	0.0294	0.0314	0	0.0024	0	0	0	0	3.348e-05	0.0092	0.0007	0.27	0.16038	T	0.275	0.22016	T	0.86	0.47373	P	0.551	0.49270	P	0.009155	0.01231	N	2.599710	1	0.08975	N	.	.	.	2.67	0.24085	T	-1.12	0.28906	N	0.049	0.02088	-0.9985	0.30339	T	0.090	0.34683	T	10	0.01280731	0.00274	T	0.005131	0.13032	T	0.128	0.35103	.	.	0.0934897674506	0.08844	0.0315000983389571	0.03099	.	.	0.522695422173	0.42006	T	0.006743	0.06169	T	-0.208362	0.19612	T	-0.537074	0.18585	T	0.0299554423302875	0.01982	T	0.552645	0.19087	T	0.099265106	0.23424	0.04743673	0.06833	0.099265106	0.23424	0.04743673	0.06833	-4.869	0.36414	T	.	.	0.108	0.21428	B	.;.	.;.	0.789012	0.11595	8.184	0.89125965080290714	0.18532	0.00155	0.00932	N	AEFI	0.028496	0.02521	N	-1.16353634151907	0.05560	0.253816	-1.3713855326731	0.03560	0.1663132	1.22751827298143E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.18	-0.372	0.11897	1.035000	0.29824	-3.127000	0.03038	-0.467000	0.05102	0.001000	0.13787	0.000000	0.08366	0.011000	0.09372	0.3941:0.0:0.6059:0.0	4.508	0.11307	922	0.19044	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	.	.	.	.	.	.	.	.	0.02632	3752.07	63	chr10	87232887	.	G	C	3752.07	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.18;DP=1026;ExcessHet=1.8686;FS=57.766;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=32.76;MQRankSum=-3.76;QD=7.09;ReadPosRankSum=0.594;SOR=2.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,48:112:99:.:.:941,0,1425:.	18	0	1	0
chr10	87365105	87365105	G	C	exonic	NUTM2D	.	nonsynonymous SNV	NUTM2D:NM_001009610:exon5:c.G1420C:p.E474Q,NUTM2D:NM_001382304:exon5:c.G1420C:p.E474Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.00778754	0.0004	0.0062	0	0	0	0	0	0	0.0004398	68	154602	rs200907148	0.0004	0.0006	0.0005	0.0003	0.0126	0.0004	0.0004	0.0114	0.0110	0.0126	0.0007	0	0	0	0.0007	4.738e-06	0.0013	0.0001	0.0056	0.0080	0.0057	0.0056	0.0181	0.0052	0.0051	0.0168	0.0163	0.0181	0	0.0013	0	0	0	0	4.46e-05	0.0078	0	0.337	0.12837	T	0.311	0.19660	T	0.444	0.35956	B	0.157	0.34536	B	0.009155	0.01231	N	2.599710	1	0.08975	N	.	.	.	2.68	0.24085	T	-1.22	0.30964	N	0.043	0.01577	-1.0092	0.27167	T	0.058	0.24279	T	8	0.009392202	0.00212	T	.	.	.	0.032	0.07718	.	.	0.0920862733494	0.08535	0.02733276297380862	0.02683	2.01292625865	0.93926	0.346210986376	0.17363	T	0.006869	0.06296	T	-0.198204	0.21063	T	-0.522483	0.20042	T	0.0184227227293791	0.00559	T	0.538446	0.18722	T	0.17563723	0.38434	0.09121277	0.21433	0.17563723	0.38433	0.09121277	0.21432	-4.636	0.32621	T	.	.	0.117	0.23570	B	.;.	.;.	0.186585	0.05734	2.178	0.96095005520447674	0.28694	0.00065	0.00468	N	AEFDI	0.028842	0.02616	N	-0.792576458366037	0.13502	0.6656267	-1.02830468106168	0.09165	0.4544762	8.44236124511699E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.628	-0.517	0.11350	0.503000	0.22318	-4.986000	0.01898	-0.943000	0.02073	0.001000	0.13787	0.000000	0.08366	0.037000	0.13953	.	.	.	683	0.59664	Nuclear Testis  protein, N-terminal;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	.	.	.	.	.	.	.	.	0.03125	560.65	10	chr10	87365105	.	G	C	560.65	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.88;DP=359;ExcessHet=0.0027;FS=0;InbreedingCoeff=0.5693;MLEAC=1;MLEAF=0.031;MQ=36.47;MQRankSum=0.674;QD=21.56;ReadPosRankSum=-0.1;SOR=1.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,4:7:73:.:.:104,0,73:.	15	0	1	3
chr10	87365166	87365166	C	T	exonic	NUTM2D	.	nonsynonymous SNV	NUTM2D:NM_001009610:exon5:c.C1481T:p.T494I,NUTM2D:NM_001382304:exon5:c.C1481T:p.T494I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00223446415924	.	.	0.0002	0.0005	0	0	0	9.204e-05	0	0.0007	3.84e-05	1	26028	rs202099769	0.0009	0.0011	0.0008	0.0011	0.0049	0.0009	0.0009	0.0043	0.0041	0.0009	0.0017	0	0.0049	0.0005	0.0008	0.0006	0.0014	0.0034	0.0020	0.0027	0.0019	0.0021	0.0046	0.0018	0.0017	0.0027	0.0022	0.0017	0	0.0030	0.0003	0.0046	0.0005	0	0.0020	0.0049	0.0033	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.559385	0.11352	N	0.786733	1	0.08975	N	.	.	.	3.41	0.14160	T	3.87	0.00062	N	0.08	0.05542	-0.9422	0.42266	T	0.012	0.04463	T	8	0.0038974881	0.00074	T	0.002234	0.04233	T	0.149	0.39377	.	.	0.0297737177859	0.01360	0.011141069843574544	0.01074	1.9025247855	0.92838	0.515417873859	0.40981	T	0.002252	0.01652	T	-0.226986	0.17050	T	-0.563826	0.16018	T	0.00121378364001231	0.00012	T	0.040196	0.00279	T	0.02891686	0.02304	0.06176681	0.11979	0.02891686	0.02303	0.06176681	0.11978	3.989	0.00009	T	.	.	0.054	0.00309	B	.;.	.;.	-0.802459	0.01102	0.050	0.076090067256528657	0.00046	0.00006	0.00120	N	AEFDI	0.015293	0.00284	N	-1.43597596059633	0.02329	0.1027233	-1.48379537463369	0.02477	0.1139815	8.70893701370907E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.628	0.628	0.16854	0.233000	0.17689	-0.954000	0.06803	-0.920000	0.02202	0.019000	0.19563	0.000000	0.08366	0.578000	0.30845	.	.	.	683	0.59664	Nuclear Testis  protein, N-terminal;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	.	.	.	.	.	.	.	.	0.02632	68.43	17	chr10	87365166	.	C	T	68.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=-0.0332;MLEAC=1;MLEAF=0.026;MQ=36.33;MQRankSum=-0.61;QD=6.84;ReadPosRankSum=-0.319;SOR=0.223	GT:AD:DP:GQ:PL	0/1:7,3:10:82:82,0,285	18	0	1	0
chr10	87366286	87366286	G	C	exonic	NUTM2D	.	nonsynonymous SNV	NUTM2D:NM_001382304:exon7:c.G1783C:p.V595L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0037	0.0233	0	0	0	0	0	0	0.0001229	19	154602	rs773299330	0.0003	0.0005	0.0004	0.0003	0.0129	0.0003	0.0003	0.0119	0.0115	0.0129	0.0004	0	0	0	0.0004	7.196e-06	0.0008	9.279e-05	0.0037	0.0053	0.0039	0.0035	0.0132	0.0034	0.0033	0.0122	0.0119	0.0132	0	0.0008	0	0	0	0	0	0.0014	0.0002	0.214	0.19361	T	0.456	0.12740	T	0.307	0.32716	B	0.03	0.21741	B	0.592695	0.05601	N	1.252190	1	0.08975	N	.	.	.	2.43	0.15261	T	-1.08	0.28084	N	0.105	0.08925	-1.0165	0.24852	T	0.022	0.09238	T	9	0.0055312216	0.00122	T	.	.	.	0.099	0.28413	.	.	0.0401082797425	0.02173	0.06507810806808279	0.06446	.	.	0.512233614922	0.40534	T	0.014054	0.12038	T	-0.562696	0.00245	T	-0.568077	0.15627	T	0.00208174931440979	0.00021	T	0.565243	0.19970	T	0.057399888	0.11417	0.04095589	0.04546	0.057399888	0.11417	0.04095589	0.04546	-2.978	0.09946	T	.	.	0.181	0.39356	B	.	.	1.106038	0.14907	11.43	0.57980491321951788	0.05889	0.00290	0.01555	N	AEFI	0.029279	0.02734	N	-1.33210717288695	0.03314	0.1478175	-1.5077068026954	0.02284	0.1048168	2.17238471373571E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	0.919	-1.84	0.07387	0.153000	0.16140	-3.757000	0.02557	0.241000	0.18245	0.002000	0.15269	0.000000	0.08366	0.015000	0.10482	0.2445:0.0:0.4421:0.3134	1.849	0.02972	681	0.59854	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	.	.	.	.	.	.	.	.	0.02632	1080.33	160	chr10	87366286	.	G	C	1080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=1085;ExcessHet=0;FS=1.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.92;MQRankSum=-2.358;QD=3.91;ReadPosRankSum=-1.229;SOR=0.584	GT:AD:DP:GQ:PL	0/1:206,70:276:99:1094,0,4812	18	0	1	0
chr10	87366360	87366360	G	A	exonic	NUTM2D	.	nonsynonymous SNV	NUTM2D:NM_001382304:exon7:c.G1857A:p.M619I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	.	0.0030	0.0161	0	0	0	0	0	0	0.0001153	3	26028	rs760629524	0.0004	0.0005	0.0005	0.0004	0.0164	0.0004	0.0004	0.0153	0.0148	0.0164	0.0005	0	0	0	0.0005	8.246e-06	0.0010	0.0001	0.0048	0.0053	0.0050	0.0045	0.0169	0.0045	0.0044	0.0159	0.0154	0.0169	0	0.0010	0	0	0	0	0	0.0029	0.0006	0.144	0.25255	T	0.288	0.21144	T	0.002	0.09854	B	0.001	0.04355	B	0.397677	0.04515	N	1.462170	1	0.08975	N	.	.	.	2.85	0.10578	T	-0.37	0.13226	N	0.113	0.10056	-0.9710	0.36988	T	0.017	0.06855	T	8	0.0053304136	0.00117	T	.	.	.	0.018	0.03083	0.177	0.08379	0.0611884634855	0.05136	0.05053819543758467	0.04996	.	.	0.541653752327	0.44680	T	0.00167	0.01102	T	-0.651535	0.00071	T	-0.695687	0.06065	T	0.000626387163128857	0.00006	T	0.547145	0.18749	T	0.09923289	0.23417	0.08134733	0.18479	0.09923289	0.23417	0.08134733	0.18478	-3.988	0.23624	T	.	.	0.376	0.58162	A	.	.	0.453688	0.08239	4.977	0.48657281574946087	0.04079	0.00538	0.02482	N	AEFI	0.026876	0.02097	N	-1.01243389889734	0.08345	0.3909616	-1.13334865069044	0.07070	0.3425755	1.79764718303329E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	0.919	0.919	0.18518	-0.118000	0.10665	-20.000000	0.00162	0.241000	0.18245	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	0.0:0.0:1.0:0.0	5.145	0.14309	680	0.59965	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	.	.	.	.	.	.	.	.	0.02632	487.33	160	chr10	87366360	.	G	A	487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=969;ExcessHet=0;FS=2.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.78;MQRankSum=0.402;QD=3.05;ReadPosRankSum=-0.068;SOR=0.992	GT:AD:DP:GQ:PL	0/1:128,32:160:99:501,0,3176	18	0	1	0
chr10	87727343	87727343	C	T	exonic	PAPSS2	.	nonsynonymous SNV	PAPSS2:NM_004670:exon8:c.C925T:p.R309W,PAPSS2:NM_001015880:exon9:c.C940T:p.R314W	Brachyolmia 4 with mild epiphyseal and metaphyseal changes, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	2095945	Inborn_genetic_diseases|Spondyloepimetaphyseal_dysplasia,_PAPSS2_type	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019666,MedGen:C2748516,OMIM:612847,Orphanet:93282	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.170	0.0378238662812	.	0.000399361	0.0002	9.612e-05	8.64e-05	0.0003	0.0005	0.0003	0	0	0.0001876	29	154602	rs199576612	8.756e-05	8.756e-05	9.257e-05	8.251e-05	0.0002	7.488e-05	7.035e-05	9.929e-05	7.225e-05	0.0002	0.0001	3.826e-05	0.0002	0.0001	0.0002	8.453e-05	3.312e-05	5.797e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.574e-05	6.279e-05	6.825e-05	2.856e-05	4.814e-05	0	0.0002	0	0.0004	0.0005	0	7.351e-05	0.0005	0	0.001	0.78490	D	0.068	0.44302	T	0.999	0.77913	D	0.951	0.68939	D	0.000478	0.44119	N	0.236983	0.999779	0.48980	D	3.045	0.86684	M	1.89	0.23688	T	-6.34	0.90937	D	0.353	0.39457	-0.8445	0.52345	T	0.162	0.49698	T	10	0.18120182	0.33341	T	0.037824	0.57854	D	0.170	0.43303	.	.	0.464870050199	0.46114	0.7531503375845159	0.75262	0.208046391582	0.23274	0.364390254021	0.20024	T	0.601356	0.87228	D	-0.33724	0.05581	T	-0.413331	0.31843	T	0.652930498123169	0.38588	D	0.972428	0.90119	D	0.8634861	0.88353	0.82595026	0.89922	0.8634861	0.88354	0.82595026	0.89922	-13.546	0.91487	D	0.6140810627221669	0.68190	0.169	0.37216	B	.;.	.;.	3.741897	0.53582	23.4	0.99907417635678297	0.97801	0.57927	0.30505	D	AEFGBI	0.562378	0.56999	D	0.208017551026514	0.51586	3.338774	0.0837730646150369	0.43733	2.668988	0.00271947446220935	0.09654	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.74	3.8	0.42887	0.635000	0.24318	0.525000	0.19198	0.599000	0.40250	0.130000	0.23345	0.068000	0.22166	0.862000	0.40904	0.1386:0.7855:0.0:0.076	9.739	0.39575	943	0.12886	ATP-sulfurylase PUA-like domain|Sulphate adenylyltransferase|Sulphate adenylyltransferase;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1356.33	33	chr10	87727343	.	C	T	1356.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.913;DP=711;ExcessHet=0;FS=2.951;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.818;SOR=0.43	GT:AD:DP:GQ:PL	0/1:33,54:87:99:1370,0,771	18	0	1	0
chr10	95684564	95684564	C	T	exonic	TCTN3	.	nonsynonymous SNV	TCTN3:NM_015631:exon9:c.G1030A:p.G344R	Joubert syndrome 18, Autosomal recessive;Orofaciodigital syndrome IV, Autosomal recessive	8	1407	104	3	0	110	0.0376197	.	.	.	207805	not_specified|Orofacial-digital_syndrome_IV|Joubert_syndrome_18|not_provided	MedGen:CN169374|MONDO:MONDO:0009794,MedGen:C0406727,OMIM:258860,Orphanet:2753|MONDO:MONDO:0013896,MedGen:C3553758,OMIM:614815,Orphanet:2754|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.375	.	0.0049	0.00359425	0.0072	0.0012	0.0033	0.0002	0.0070	0.0074	0.0066	0.0167	0.0067464	1043	154602	rs141088838	0.0065	0.0065	0.0062	0.0068	0.0152	0.0064	0.0064	0.0146	0.0143	0.0022	0.0037	0.0099	5.04e-05	0.0096	0.0151	0.0060	0.0074	0.0152	0.0045	0.0045	0.0048	0.0043	0.0133	0.0043	0.0041	0.0107	0.0097	0.0016	0.0088	0.0029	0.0069	0.0006	0.0057	0.0204	0.0059	0.0057	0.0133	0.484	0.08140	T	0.618	0.07741	T	0.006	0.16265	B	0.011	0.15521	B	0.248852	0.03633	N	1.421560	1	0.08975	N	0.675	0.16386	N	-1.51	0.81399	D	-1.25	0.31576	N	0.278	0.32370	-1.0118	0.26353	T	0.056	0.23677	T	10	0.009601146	0.00216	T	.	.	.	0.375	0.69358	0.476	0.55342	0.790772292906	0.78882	0.5454035550696645	0.54466	0.13614919438	0.15352	0.240530341864	0.02838	T	0.163459	0.50852	T	-0.328064	0.06259	T	-0.231693	0.51608	T	0.00183713152993083	0.00019	T	0.687031	0.29593	T	0.049764294	0.08885	0.06339117	0.12551	0.050919995	0.09274	0.058357354	0.10769	-3.4	0.18759	T	0.06951102923013433	0.02612	0.079	0.12750	B	.;.;.;.	.;.;.;.	0.943955	0.13196	9.698	0.79239687288419069	0.12652	0.02608	0.07182	N	AEFBI	0.040571	0.06054	N	-0.568814744440956	0.19897	1.04495	-0.618461886141582	0.19019	1.018611	6.80979325413761E-5	0.04366	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.59	-0.788	0.10387	-0.057000	0.11726	.	.	-0.182000	0.10109	0.059000	0.21734	0.003000	0.18671	0.955000	0.50612	0.0:0.4378:0.2572:0.3049	5.321	0.15186	712	0.56465	Domain of unknown function DUF1619;Domain of unknown function DUF1619;Domain of unknown function DUF1619;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.018649	0.020408	0.016304	0.017544	0.000000	0.000000	0.021341	0.034091	0.05263	1195.83	34	chr10	95684564	.	C	T	1195.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.01;DP=704;ExcessHet=0.119;FS=3.269;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=0.191;SOR=0.975	GT:AD:DP:GQ:PL	0/1:42,27:69:99:691,0,964	17	0	2	0
chr10	95693676	95693676	G	A	exonic	TCTN3	.	nonsynonymous SNV	TCTN3:NM_001143973:exon1:c.C224T:p.A75V,TCTN3:NM_015631:exon1:c.C224T:p.A75V	Joubert syndrome 18, Autosomal recessive;Orofaciodigital syndrome IV, Autosomal recessive	9	1406	104	3	0	110	0.0376454	.	.	.	207806	Orofacial-digital_syndrome_IV|Joubert_syndrome_18|not_specified|not_provided	MONDO:MONDO:0009794,MedGen:C0406727,OMIM:258860,Orphanet:2753|MONDO:MONDO:0013896,MedGen:C3553758,OMIM:614815,Orphanet:2754|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.029	.	0.0050	0.00359425	0.0104	0.0005	0.0025	0	0.0126	0.0070	0.0142	0.0174	0.0023544	364	154602	rs41291570	0.0065	0.0062	0.0062	0.0067	0.0151	0.0063	0.0063	0.0144	0.0141	0.0021	0.0038	0.0100	2.798e-05	0.0097	0.0146	0.0059	0.0073	0.0151	0.0045	0.0045	0.0048	0.0043	0.0133	0.0042	0.0041	0.0107	0.0097	0.0015	0.0088	0.0029	0.0069	0.0008	0.0056	0.0204	0.0059	0.0057	0.0133	0.135	0.26192	T	0.284	0.26631	T	0.002	0.12183	B	0.004	0.17743	B	0.695638	0.10137	N	0.851711	1	0.08975	N	1.2	0.30300	L	-1.72	0.83241	D	-1.18	0.30140	N	0.02	0.00445	-1.0142	0.25593	T	0.043	0.18576	T	10	0.00509724	0.00110	T	.	.	.	0.089	0.25827	.	.	0.853917324909	0.85251	0.27649445813637197	0.27562	0.112868008101	0.12739	0.290317267179	0.08968	T	0.003843	0.03252	T	-0.429777	0.01487	T	-0.377798	0.35981	T	0.00188038530215611	0.00019	T	0.70393	0.31793	T	0.027774865	0.02017	0.0480095	0.07041	0.028834157	0.02283	0.03944964	0.04039	-4.12	0.25877	T	0.20698699571383888	0.27655	0.069	0.09045	B	.;.;.;.;.	.;.;.;.;.	1.137991	0.15248	11.71	0.98272581091808886	0.39777	0.00594	0.02659	N	AEFDGBHCI	0.051049	0.08981	N	-0.671870877272385	0.16825	0.8606815	-0.823356092228878	0.13929	0.725252	0.999999999731661	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.54	-0.71	0.10668	0.271000	0.18390	.	.	0.662000	0.56354	0.001000	0.13787	0.001000	0.17328	0.076000	0.17014	0.3648:0.162:0.4732:0.0	4.443	0.11007	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	1	0	1	0	0.022837	0.015957	0.007937	0.026549	0.000000	0.000000	0.027473	0.036585	0.05263	3811.83	34	chr10	95693676	.	G	A	3811.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.17;DP=890;ExcessHet=0.119;FS=0.963;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.952;SOR=0.769	GT:AD:DP:GQ:PL	0/1:76,70:146:99:1793,0,2143	17	0	2	0
chr10	98490138	98490138	T	A	exonic	HPSE2	.	nonsynonymous SNV	HPSE2:NM_001166245:exon8:c.A1043T:p.H348L,HPSE2:NM_001166244:exon9:c.A1205T:p.H402L,HPSE2:NM_001166246:exon10:c.A1379T:p.H460L,HPSE2:NM_021828:exon10:c.A1379T:p.H460L	Urofacial syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0198211317659	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776630003	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.39575	T	0.238	0.43159	T	0.454	0.39027	P	0.078	0.34892	B	0.000003	0.62929	D	0.060464	0.999994	0.58761	D	1.7	0.43825	L	0.97	0.42502	T	-3.74	0.71042	D	0.705	0.70878	-1.0615	0.11385	T	0.090	0.34573	T	10	0.33014223	0.50257	T	0.019821	0.42278	T	0.103	0.29403	0.338	0.32816	0.292423486923	0.28857	0.6909384775454883	0.69033	0.288955871697	0.31300	0.753919363022	0.75025	T	0.450387	0.79152	T	-0.0712214	0.41131	T	-0.340081	0.40336	T	0.744033336639404	0.42956	D	0.855714	0.54342	D	0.3062042	0.53455	0.34872052	0.60508	0.3062042	0.53455	0.34872052	0.60507	-6.267	0.51007	T	.	.	0.256	0.55417	B	.;.;.;.;.	.;.;.;.;.	4.188267	0.63110	24.5	0.97520503793793123	0.34400	0.78142	0.38509	D	AEFDBCIJ	0.706416	0.66149	D	0.105266773562861	0.46708	2.907097	0.255400208393498	0.52956	3.467221	0.999994341426639	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.61	5.61	0.85347	4.556000	0.60483	7.904000	0.73702	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.800	0.78220	856	0.34373	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1824.33	33	chr10	98490138	.	T	A	1824.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=774;ExcessHet=0;FS=5.184;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=1.88;SOR=0.377	GT:AD:DP:GQ:PL	0/1:72,70:142:99:1838,0,1882	18	0	1	0
chr10	99898176	99898176	G	A	exonic	DNMBP	.	nonsynonymous SNV	DNMBP:NM_001318326:exon6:c.C1726T:p.H576Y,DNMBP:NM_001318327:exon6:c.C694T:p.H232Y,DNMBP:NM_015221:exon9:c.C2830T:p.H944Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.687	0.0842519476078	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs765817784	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	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.992	0.64738	D	0.847	0.60522	P	0.000171	0.48594	D	0.000000	1	0.81001	D	3.265	0.90016	M	-0.33	0.68329	T	-5.61	0.86686	D	0.776	0.77319	0.259	0.86888	D	0.569	0.84395	D	10	0.8250976	0.81693	D	0.084252	0.74287	D	0.687	0.88585	0.533	0.64148	0.880231576817	0.87905	0.7501361473322214	0.74960	0.651714769352	0.58392	0.603113293648	0.53343	T	0.391603	0.75149	T	0.259657	0.79498	D	0.232057	0.84771	D	0.985189378261566	0.76254	D	0.930707	0.74322	D	0.78674936	0.83071	0.77136254	0.86502	0.78674936	0.83073	0.77136254	0.86503	-10.725	0.78128	D	.	.	0.555	0.72931	A	.;.;.	.;.;.	4.968896	0.82213	27.7	0.99799930207321441	0.88461	0.99479	0.96535	D	AEFBI	0.911223	0.87020	D	0.958165840393507	0.94305	12.65503	0.922305860161398	0.96473	14.73964	0.999999999998343	0.74766	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	9.911000	0.98680	11.792000	0.96402	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.542	0.95271	487	0.76954	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1615.33	34	chr10	99898176	.	G	A	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.955;DP=849;ExcessHet=0;FS=4.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-1.057;SOR=0.864	GT:AD:DP:GQ:PL	0/1:74,61:135:99:1629,0,1987	18	0	1	0
chr10	101006660	101006660	C	A	exonic	LZTS2	.	nonsynonymous SNV	LZTS2:NM_001318101:exon3:c.C842A:p.A281D,LZTS2:NM_001318099:exon5:c.C1502A:p.A501D,LZTS2:NM_001318100:exon5:c.C1502A:p.A501D,LZTS2:NM_032429:exon5:c.C1502A:p.A501D	.	0	225	1	0	0	1	0.00221729	.	.	.	2677374	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	0.0159585853253	.	.	0.0002	0.0004	0	0	0	0.0002	0	0.0004	0.0001164	18	154602	rs370440218	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	2.468e-05	0	0	0.0001	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	8.055e-05	0.0002	6.506e-05	5.318e-05	9.046e-05	7.011e-05	7.216e-05	0	6.536e-05	0	0	0	0	0.0002	0	0.0002	0.028	0.46129	D	0.008	0.67890	D	0.389	0.34565	B	0.369	0.43514	B	0.000146	0.49130	D	0.181438	0.997475	0.43918	D	1.32	0.33002	L	0.84	0.47477	T	-1.87	0.43717	N	0.321	0.36359	-0.8940	0.48577	T	0.147	0.47183	T	10	0.1239557	0.23537	T	0.015959	0.36975	T	0.125	0.34456	.	.	0.143184338766	0.13958	0.24591759748990397	0.24505	0.419131271529	0.42472	0.765441119671	0.76741	T	0.087249	0.37901	T	-0.307904	0.07934	T	-0.375512	0.36247	T	0.625364780426025	0.37427	D	0.877512	0.59164	D	0.39158604	0.60144	0.40491134	0.64905	0.39158604	0.60145	0.40491134	0.64905	-5.11	0.38012	T	.	.	0.176	0.38462	B	.;.	.;.	3.734753	0.53444	23.4	0.99506506183463328	0.68381	0.84130	0.43214	D	AEFDBCI	0.442613	0.50027	N	-0.128383764911273	0.36160	2.086396	-0.0936166219637781	0.35653	2.06528	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	3.020000	0.49326	7.671000	0.64778	0.524000	0.24156	0.034000	0.20669	1.000000	0.68203	0.735000	0.35267	0.0:1.0:0.0:0.0	18.554	0.91028	554	0.71839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001019	0.000000	0.001366	0.002959	0.000000	0.000000	0.000000	0.003817	0.02632	397.33	33	chr10	101006660	.	C	A	397.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.168;DP=693;ExcessHet=0;FS=7.186;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=-0.637;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,12:43:99:0|1:101006660_C_A:411,0,1266:101006660	18	0	1	0
chr10	101131912	101131912	G	C	exonic	TLX1	.	nonsynonymous SNV	TLX1:NM_001195517:exon1:c.G371C:p.G124A,TLX1:NM_005521:exon1:c.G371C:p.G124A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.846172674262	.	.	0.0004	0	0	0	0	0	0	0.0007	6.5e-06	1	154602	rs773316235	2.404e-06	4.788e-06	1.569e-06	3.277e-06	3.594e-05	6.4e-07	1.8e-07	5.82e-06	2.18e-06	0	0	0	3.594e-05	0	0	0	0	3.508e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.23271	T	0.619	0.11115	T	0.231	0.30614	B	0.039	0.23607	B	0.034670	0.24740	N	0.403224	1	0.08975	N	0.345	0.11182	N	-2.79	0.92307	D	-0.1	0.11913	N	0.207	0.22998	-0.6029	0.64697	T	0.443	0.78051	T	10	0.22813687	0.39711	T	0.846173	0.98813	D	0.215	0.50805	0.332	0.31843	0.771538927918	0.76944	0.40737772980806236	0.40653	.	.	0.906008958817	0.97079	D	0.244527	0.61366	T	-0.140488	0.29812	T	-0.17515	0.56971	T	0.0603314736811094	0.07221	T	0.430857	0.11861	T	0.05238856	0.09765	0.08561906	0.19782	0.05238856	0.09764	0.08561906	0.19782	-3.965	0.23278	T	.	.	0.088	0.18164	B	.;.;.	.;.;.	0.680977	0.10493	7.210	0.70807408744618017	0.09417	0.43104	0.27024	N	AEFDBHCI	0.050754	0.08902	N	-0.660259980211579	0.17162	0.8807751	-0.573069263861301	0.20196	1.087025	0.999265433517958	0.38940	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.22	4.22	0.49153	1.955000	0.39997	0.710000	0.20927	0.562000	0.28470	0.949000	0.33028	0.477000	0.25082	0.081000	0.17303	0.1028:0.0:0.8972:0.0	9.284	0.36910	765	0.49814	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1061.33	36	chr10	101131912	.	G	C	1061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.987;DP=728;ExcessHet=0;FS=7.006;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-1.787;SOR=1.004	GT:AD:DP:GQ:PL	0/1:41,47:88:99:1075,0,1062	18	0	1	0
chr10	114465811	114465811	C	T	exonic	ABLIM1	.	nonsynonymous SNV	ABLIM1:NM_001322896:exon6:c.G302A:p.R101Q,ABLIM1:NM_001322897:exon6:c.G302A:p.R101Q,ABLIM1:NM_001322900:exon6:c.G302A:p.R101Q,ABLIM1:NM_001322888:exon7:c.G380A:p.R127Q,ABLIM1:NM_001322890:exon7:c.G380A:p.R127Q,ABLIM1:NM_001322891:exon7:c.G380A:p.R127Q,ABLIM1:NM_001322892:exon7:c.G380A:p.R127Q,ABLIM1:NM_001322893:exon7:c.G380A:p.R127Q,ABLIM1:NM_001322894:exon7:c.G380A:p.R127Q,ABLIM1:NM_001322895:exon7:c.G380A:p.R127Q,ABLIM1:NM_001322898:exon7:c.G380A:p.R127Q,ABLIM1:NM_001322899:exon7:c.G380A:p.R127Q,ABLIM1:NM_001352443:exon7:c.G380A:p.R127Q,ABLIM1:NM_001322889:exon8:c.G464A:p.R155Q,ABLIM1:NM_006720:exon8:c.G464A:p.R155Q,ABLIM1:NM_001003407:exon12:c.G1148A:p.R383Q,ABLIM1:NM_001322883:exon12:c.G1148A:p.R383Q,ABLIM1:NM_001322884:exon12:c.G1097A:p.R366Q,ABLIM1:NM_001322885:exon12:c.G1097A:p.R366Q,ABLIM1:NM_001322886:exon12:c.G1097A:p.R366Q,ABLIM1:NM_001322887:exon12:c.G1148A:p.R383Q,ABLIM1:NM_001352440:exon12:c.G1100A:p.R367Q,ABLIM1:NM_001352441:exon12:c.G1100A:p.R367Q,ABLIM1:NM_001352442:exon12:c.G872A:p.R291Q,ABLIM1:NM_002313:exon12:c.G1328A:p.R443Q,ABLIM1:NM_001322882:exon13:c.G1232A:p.R411Q	.	431	1090	1	0	0	1	0.000458505	.	.	.	3479011	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.265	0.0410112803198	0.0002	.	7.415e-05	9.61e-05	0	0	0	0.0001	0	6.06e-05	5.82e-05	9	154602	rs138601357	0.0001	0.0001	0.0001	0.0001	0.0007	9.199e-05	8.664e-05	0.0002	0.0001	8.961e-05	0.0002	0	0	0	0.0007	0.0001	6.623e-05	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.724e-05	0.0002	0.0002	2.415e-05	0	0.0001	0	0	0	0	0.0003	0	0	0.022	0.51248	D	0.019	0.63109	D	1.0	0.90584	D	0.973	0.86255	D	0.000283	0.46274	D	0.191119	1	0.81001	D	1.1	0.28011	L	-0.68	0.72568	T	-1.89	0.58896	N	0.884	0.90138	0.054	0.83312	D	0.538	0.82955	D	10	0.75485	0.75906	D	0.041011	0.59691	D	0.533	0.80367	.	.	0.843117472852	0.84161	0.5098057614868399	0.50902	1.15275571423	0.79265	0.584298491478	0.50691	T	0.069172	0.63841	T	0.0788717	0.61908	D	0.181494	0.82081	D	0.534127652645111	0.33886	D	0.983302	0.94559	D	0.19520293	0.41300	0.16299082	0.37833	0.19520293	0.41300	0.16299082	0.37832	-8.746	0.67581	D	.	.	0.195	0.41648	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.821324	0.93699	33	0.99938133052991818	0.99698	0.99770	0.99340	D	AEFBI	0.914403	0.87771	D	0.781825564779648	0.84956	8.435039	0.780864505503759	0.88432	9.580078	0.999999998607232	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	6.077000	0.70910	7.640000	0.63152	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.739	0.88311	782	0.47442	.;.;Putative adherens-junction anchoring domain;Putative adherens-junction anchoring domain;.;Putative adherens-junction anchoring domain;.;Putative adherens-junction anchoring domain;.;Putative adherens-junction anchoring domain;Putative adherens-junction anchoring domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	827.33	34	chr10	114465811	.	C	T	827.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-1.629;SOR=0.578	GT:AD:DP:GQ:PL	0/1:31,34:65:99:841,0,657	18	0	1	0
chr10	116906663	116906663	G	A	exonic	SHTN1	.	nonsynonymous SNV	SHTN1:NM_001258298:exon14:c.C1264T:p.R422C,SHTN1:NM_001127211:exon15:c.C1444T:p.R482C,SHTN1:NM_001258299:exon15:c.C1444T:p.R482C,SHTN1:NM_001258300:exon16:c.C1264T:p.R422C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0235504019544	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1379531577	4.107e-06	5.472e-06	2.724e-06	5.504e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.599e-06	1.657e-05	0	6.573e-06	1.313e-05	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.008	0.67890	D	1.0	0.90584	D	0.996	0.84481	D	0.004803	0.33369	N	0.291572	1	0.81001	D	1.895	0.50365	L	.	.	.	-2.69	0.57435	D	0.812	0.80767	-0.4060	0.71837	T	0.323	0.69177	T	9	0.63331413	0.68640	D	0.02355	0.46515	T	0.298	0.61843	0.234	0.16305	0.232442253697	0.22838	0.27210299918533315	0.27123	1.45812495012	0.86292	0.740429341793	0.73036	T	0.236281	0.60372	T	0.263258	0.79828	D	0.140375	0.79568	D	0.984401524066925	0.75724	D	0.954105	0.83814	D	0.20573868	0.42725	0.15958706	0.37212	0.20573868	0.42725	0.15958706	0.37211	-8.95	0.70354	D	.	.	0.302	0.56311	B	.;.;.;.	.;.;.;.	5.797404	0.93598	33	0.99926503292456081	0.99103	0.96048	0.67297	D	AEFBI	0.758727	0.69728	D	0.618596889376606	0.74352	6.118006	0.59950949310989	0.74907	6.217285	0.967772774542259	0.29002	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.49	4.58	0.56077	6.887000	0.75425	11.834000	0.97615	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0764:0.0:0.9236:0.0	12.694	0.56360	603	0.67726	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1659.33	33	chr10	116906663	.	G	A	1659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.336;DP=750;ExcessHet=0;FS=1.492;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=1.15;SOR=0.87	GT:AD:DP:GQ:PL	0/1:49,71:120:99:1673,0,1011	18	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1176	1457.48	127	chr10	117341050	.	C	T	1457.48	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-4.099;DP=1718;ExcessHet=4.0268;FS=278.265;InbreedingCoeff=-0.3117;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.31;SOR=9.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,41:134:99:0|1:117341048_C_T:501,0,2567:117341048	13	0	4	2
chr10	119898750	119898750	C	G	exonic	SEC23IP	.	nonsynonymous SNV	SEC23IP:NM_007190:exon2:c.C487G:p.L163V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.120769286184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.03e-05	0.0002	1.093e-05	9.654e-06	1.174e-05	6.18e-06	4.9e-06	6.55e-06	5.05e-06	0	0	0	0	0	0	1.174e-05	3.32e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.06461	T	0.821	0.12246	T	0.104	0.25941	B	0.062	0.26930	B	0.000005	0.62929	D	0.107180	1	0.81001	D	1.78	0.46185	L	-4.25	0.97054	D	0.01	0.06868	N	0.207	0.22998	0.479	0.90252	D	0.815	0.93762	D	10	0.15099514	0.28548	T	0.120769	0.80138	D	0.336	0.65816	0.186	0.09517	0.849074084723	0.84762	0.11778504863915601	0.11705	0.144110295782	0.16271	0.353825509548	0.18484	T	0.091547	0.38818	T	0.043976	0.57564	T	-0.174608	0.57021	T	0.556831955909729	0.34735	D	0.738826	0.35731	T	0.14919165	0.34025	0.09147891	0.21510	0.14919165	0.34024	0.09147891	0.21510	-3.167	0.12082	T	.	.	0.071	0.05274	B	.;.	.;.	1.155811	0.15440	11.85	0.95415677836796886	0.26887	0.98451	0.82913	D	AEFGBI	0.532298	0.55222	D	-0.292483383673774	0.29436	1.632456	-0.16913862766753	0.32679	1.861587	0.999999898467037	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	4.65	0.57626	2.670000	0.46499	2.509000	0.33065	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.518000	0.29429	0.0:0.9277:0.0:0.0723	14.037	0.64172	631	0.64944	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	179.35	180	chr10	119898750	.	C	G	179.35	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-5.428;DP=2753;ExcessHet=0.3672;FS=259.479;InbreedingCoeff=-0.3586;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=0.328;SOR=10.048	GT:AD:DP:GQ:PL	0/1:126,47:173:84:84,0,2952	2	0	3	14
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L,PSTK:NM_153336:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1062.87	83	chr10	122983003	.	G	C	1062.87	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.7;DP=2257;ExcessHet=11.1788;FS=178.411;InbreedingCoeff=-0.4627;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.593;SOR=13.029	GT:AD:DP:GQ:PL	0/1:74,24:121:80:80,0,1110	6	0	12	1
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	20592.3	168	chr10	124989543	.	T	C	20592.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.212;DP=2545;ExcessHet=38.2876;FS=17.974;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=49.65;MQRankSum=-8.998;QD=8.51;ReadPosRankSum=0.06;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,35:149:99:0|1:124989533_G_A:907,0,4594:124989533	1	0	18	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8765.83	174	chr10	124989564	.	TG	T	8765.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.94;DP=2670;ExcessHet=31.086;FS=16.933;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=51.59;MQRankSum=-8.373;QD=3.69;ReadPosRankSum=-1.813;SOR=0.178	GT:AD:DP:GQ:PL	0/1:132,23:155:99:395,0,4468	2	0	17	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	5963.25	35	chr10	124994489	.	T	G	5963.25	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.41;DP=2809;ExcessHet=25.4433;FS=26.988;InbreedingCoeff=-0.7286;MLEAC=16;MLEAF=0.421;MQ=58.25;MQRankSum=-7.677;QD=2.44;ReadPosRankSum=-3.639;SOR=3.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,23:197:99:0|1:124994489_T_G:442,0,7210:124994489	3	0	16	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8869.86	35	chr10	124994501	.	G	A	8869.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.103;DP=3037;ExcessHet=31.086;FS=31.76;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.66;MQRankSum=-6.926;QD=3.22;ReadPosRankSum=-2.916;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,29:211:99:0|1:124994489_T_G:650,0,7534:124994489	2	0	17	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	9100.86	35	chr10	124994505	.	A	T	9100.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.29;DP=3109;ExcessHet=31.086;FS=32.046;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.53;MQRankSum=-6.856;QD=3.31;ReadPosRankSum=-2.157;SOR=3.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,29:208:99:0|1:124994489_T_G:658,0,7400:124994489	2	0	17	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	13165.0	224	chr10	124994530	.	G	A	13165.0	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.518;DP=3717;ExcessHet=38.2876;FS=52.691;InbreedingCoeff=-0.9045;MLEAC=18;MLEAF=0.474;MQ=56.99;MQRankSum=-6.295;QD=4.31;ReadPosRankSum=1.03;SOR=4.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,40:216:99:0|1:124994523_G_A:1053,0,7148:124994523	1	0	18	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	6669.77	218	chr10	124994542	.	C	T	6669.77	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.167;DP=3803;ExcessHet=31.086;FS=61.277;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=56.82;MQRankSum=-6.243;QD=2.29;ReadPosRankSum=2.29;SOR=5.37	GT:AD:DP:GQ:PL	0/1:175,41:216:99:481,0,5072	1	0	17	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6662.69	214	chr10	124994563	.	A	T	6662.69	.	AC=18;AF=0.5;AN=36;BaseQRankSum=-2.888;DP=3853;ExcessHet=38.2876;FS=70.258;InbreedingCoeff=-0.9487;MLEAC=19;MLEAF=0.528;MQ=56.72;MQRankSum=-6.4;QD=2.12;ReadPosRankSum=3.59;SOR=5.482	GT:AD:DP:GQ:PL	0/1:178,45:223:99:448,0,5275	0	0	18	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18811.3	222	chr10	124994577	.	C	A	18811.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.155;DP=3962;ExcessHet=48.2876;FS=72.251;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.8;MQRankSum=-6.921;QD=5.38;ReadPosRankSum=2.92;SOR=5.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,50:226:99:0|1:124994577_C_A:1492,0,6997:124994577	0	0	19	0
chr10	125003006	125003006	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A516G:p.I172M,CTBP2:NM_022802:exon3:c.A1932G:p.I644M,CTBP2:NM_001321013:exon4:c.A312G:p.I104M,CTBP2:NM_001083914:exon5:c.A312G:p.I104M,CTBP2:NM_001290214:exon5:c.A312G:p.I104M,CTBP2:NM_001290215:exon5:c.A312G:p.I104M,CTBP2:NM_001321012:exon5:c.A312G:p.I104M,CTBP2:NM_001321014:exon5:c.A312G:p.I104M,CTBP2:NM_001329:exon5:c.A312G:p.I104M	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	446.39	235	chr10	125003006	.	T	C	446.39	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.486;DP=2698;ExcessHet=1.3;FS=2.263;InbreedingCoeff=-0.3337;MLEAC=7;MLEAF=0.35;MQ=57.24;MQRankSum=-5.097;QD=0.84;ReadPosRankSum=0.636;SOR=1.136	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,9:98:99:0|1:125003006_T_C:110,0,3689:125003006	5	0	5	9
chr10	125003008	125003008	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A514G:p.I172V,CTBP2:NM_022802:exon3:c.A1930G:p.I644V,CTBP2:NM_001321013:exon4:c.A310G:p.I104V,CTBP2:NM_001083914:exon5:c.A310G:p.I104V,CTBP2:NM_001290214:exon5:c.A310G:p.I104V,CTBP2:NM_001290215:exon5:c.A310G:p.I104V,CTBP2:NM_001321012:exon5:c.A310G:p.I104V,CTBP2:NM_001321014:exon5:c.A310G:p.I104V,CTBP2:NM_001329:exon5:c.A310G:p.I104V	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	419.35	233	chr10	125003008	.	T	C	419.35	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.65;DP=2690;ExcessHet=1.3;FS=2.263;InbreedingCoeff=-0.3337;MLEAC=7;MLEAF=0.35;MQ=57.21;MQRankSum=-5.097;QD=0.78;ReadPosRankSum=0.883;SOR=1.133	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,9:99:99:0|1:125003006_T_C:107,0,3723:125003006	5	0	5	9
chr10	125003010	125003010	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G512A:p.R171Q,CTBP2:NM_022802:exon3:c.G1928A:p.R643Q,CTBP2:NM_001321013:exon4:c.G308A:p.R103Q,CTBP2:NM_001083914:exon5:c.G308A:p.R103Q,CTBP2:NM_001290214:exon5:c.G308A:p.R103Q,CTBP2:NM_001290215:exon5:c.G308A:p.R103Q,CTBP2:NM_001321012:exon5:c.G308A:p.R103Q,CTBP2:NM_001321014:exon5:c.G308A:p.R103Q,CTBP2:NM_001329:exon5:c.G308A:p.R103Q	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	440.56	235	chr10	125003010	.	C	T	440.56	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.965;DP=2699;ExcessHet=1.3;FS=2.263;InbreedingCoeff=-0.3359;MLEAC=7;MLEAF=0.35;MQ=57.24;MQRankSum=-5.032;QD=0.83;ReadPosRankSum=0.743;SOR=1.156	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,9:98:99:0|1:125003006_T_C:110,0,3702:125003006	5	0	5	9
chr10	125003036	125003036	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G486T:p.K162N,CTBP2:NM_022802:exon3:c.G1902T:p.K634N,CTBP2:NM_001321013:exon4:c.G282T:p.K94N,CTBP2:NM_001083914:exon5:c.G282T:p.K94N,CTBP2:NM_001290214:exon5:c.G282T:p.K94N,CTBP2:NM_001290215:exon5:c.G282T:p.K94N,CTBP2:NM_001321012:exon5:c.G282T:p.K94N,CTBP2:NM_001321014:exon5:c.G282T:p.K94N,CTBP2:NM_001329:exon5:c.G282T:p.K94N	.	419	630	463	10	0	483	0.277108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2727	522.42	224	chr10	125003036	.	C	A	522.42	.	AC=6;AF=0.273;AN=22;BaseQRankSum=-2.179;DP=2686;ExcessHet=2.0135;FS=10.865;InbreedingCoeff=-0.3614;MLEAC=8;MLEAF=0.364;MQ=56.82;MQRankSum=-4.942;QD=0.84;ReadPosRankSum=0.899;SOR=1.951	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,9:88:13:0|1:125003036_C_A:13,0,3220:125003036	5	0	6	8
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S,CTBP2:NM_022802:exon3:c.A1876T:p.T626S,CTBP2:NM_001321013:exon4:c.A256T:p.T86S,CTBP2:NM_001083914:exon5:c.A256T:p.T86S,CTBP2:NM_001290214:exon5:c.A256T:p.T86S,CTBP2:NM_001290215:exon5:c.A256T:p.T86S,CTBP2:NM_001321012:exon5:c.A256T:p.T86S,CTBP2:NM_001321014:exon5:c.A256T:p.T86S,CTBP2:NM_001329:exon5:c.A256T:p.T86S	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3182	1099.74	206	chr10	125003062	.	T	A	1099.74	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.677;DP=2663;ExcessHet=2.9153;FS=12.857;InbreedingCoeff=-0.4087;MLEAC=10;MLEAF=0.455;MQ=56.84;MQRankSum=-5.566;QD=1.47;ReadPosRankSum=1.17;SOR=2.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,9:85:99:0|1:125003062_T_A:149,0,3141:125003062	4	0	7	8
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F,CTBP2:NM_022802:exon3:c.A1873T:p.I625F,CTBP2:NM_001321013:exon4:c.A253T:p.I85F,CTBP2:NM_001083914:exon5:c.A253T:p.I85F,CTBP2:NM_001290214:exon5:c.A253T:p.I85F,CTBP2:NM_001290215:exon5:c.A253T:p.I85F,CTBP2:NM_001321012:exon5:c.A253T:p.I85F,CTBP2:NM_001321014:exon5:c.A253T:p.I85F,CTBP2:NM_001329:exon5:c.A253T:p.I85F	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3182	1090.65	204	chr10	125003065	.	T	A	1090.65	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.972;DP=2662;ExcessHet=2.9153;FS=12.857;InbreedingCoeff=-0.408;MLEAC=10;MLEAF=0.455;MQ=56.85;MQRankSum=-5.599;QD=1.45;ReadPosRankSum=1.2;SOR=2.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,9:86:99:0|1:125003062_T_A:146,0,3174:125003062	4	0	7	8
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X,CTBP2:NM_001083914:exon3:c.A22T:p.K8X,CTBP2:NM_001290214:exon3:c.A22T:p.K8X,CTBP2:NM_001290215:exon3:c.A22T:p.K8X,CTBP2:NM_001321012:exon3:c.A22T:p.K8X,CTBP2:NM_001321014:exon3:c.A22T:p.K8X,CTBP2:NM_001329:exon3:c.A22T:p.K8X	.	432	1023	67	0	0	67	0.0317085	.	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1053	265.39	34	chr10	125039033	.	T	A	265.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.557;DP=1277;ExcessHet=0.7564;FS=2.405;InbreedingCoeff=-0.1167;MLEAC=4;MLEAF=0.105;MQ=58.85;MQRankSum=-11.94;QD=0.45;ReadPosRankSum=-0.955;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,10:143:20:0|1:125039033_T_A:20,0,5482:125039033	15	0	4	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R,CTBP2:NM_001083914:exon3:c.A20G:p.H7R,CTBP2:NM_001290214:exon3:c.A20G:p.H7R,CTBP2:NM_001290215:exon3:c.A20G:p.H7R,CTBP2:NM_001321012:exon3:c.A20G:p.H7R,CTBP2:NM_001321014:exon3:c.A20G:p.H7R,CTBP2:NM_001329:exon3:c.A20G:p.H7R	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	265.39	34	chr10	125039035	.	T	C	265.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.641;DP=1268;ExcessHet=0.7564;FS=2.405;InbreedingCoeff=-0.1167;MLEAC=4;MLEAF=0.105;MQ=58.84;MQRankSum=-11.94;QD=0.45;ReadPosRankSum=-0.658;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,10:143:20:0|1:125039033_T_A:20,0,5482:125039033	15	0	4	0
chr10	132324355	132324355	G	C	exonic	STK32C	.	nonsynonymous SNV	STK32C:NM_001318881:exon2:c.C320G:p.P107R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	.	3.041e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs768453958	3.989e-05	3.976e-05	7.009e-06	6.737e-05	0.0003	2.737e-05	2.312e-05	0.0002	0.0002	0	0	0	0	0	0.0002	2.86e-06	6.051e-05	0.0003	1.313e-05	1.312e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.072	0.04547	.	.	.	.	.	.	.	0.05529532	0.06020	T	.	.	.	.	.	.	.	0.132336055621	0.12781	.	.	.	.	.	.	.	.	.	.	-0.5103	0.00500	T	-0.674595	0.07317	T	0.0229897766611267	0.01023	T	0.211379	0.02567	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.17995	B	.	.	-1.407843	0.00354	0.006	0.37746838337563549	0.02505	0.00123	0.00769	N	AEFDBIJ	0.033569	0.04009	N	-1.060772695814	0.07377	0.3425444	-1.32655552718135	0.04090	0.1921962	0.999993228522661	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	1.24	-2.47	0.06070	-0.780000	0.04759	-3.282000	0.02909	-0.870000	0.02561	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2734:0.0:0.4381:0.2886	2.977	0.05580	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1041.33	34	chr10	132324355	.	G	C	1041.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.821;DP=725;ExcessHet=0;FS=0.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=1.21;SOR=0.546	GT:AD:DP:GQ:PL	0/1:42,43:85:99:1055,0,1152	18	0	1	0
chr10	133240280	133240280	A	G	exonic	VENTX	.	nonsynonymous SNV	VENTX:NM_014468:exon3:c.A751G:p.M251V	.	421	1040	61	0	0	61	0.0284914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0027	0.00559105	0.0065	0.0011	0.0042	0	0.0002	0.0053	0.0040	0.0235	0.0053298	824	154602	rs148086757	0.0049	0.0049	0.0043	0.0056	0.0441	0.0048	0.0048	0.0395	0.0378	0.0017	0.0062	0.0122	5.087e-05	0.0002	0.0441	0.0037	0.0069	0.0211	0.0049	0.0049	0.0046	0.0052	0.0150	0.0046	0.0045	0.0122	0.0112	0.0008	0.0650	0.0130	0.0161	0.0002	9.445e-05	0.0514	0.0043	0.0066	0.0150	0.006	0.61437	D	0.122	0.35710	T	0.0	0.02946	B	0.001	0.04355	B	0.176135	0.17233	U	0.369811	1	0.08975	N	0	0.06538	N	-2.59	0.89822	D	-0.17	0.09627	N	0.122	0.11340	-0.6701	0.61824	T	0.301	0.67232	T	10	0.0030415654	0.00050	T	.	.	.	0.141	0.37795	.	.	0.460085558651	0.45632	0.09206645746996407	0.09139	0.0854921300487	0.09661	0.353580713272	0.18448	T	0.001414	0.00874	T	-0.475129	0.00790	T	-0.43901	0.28920	T	0.00320643787163532	0.00034	T	0.207379	0.02472	T	0.23485649	0.46313	0.116778955	0.28192	0.23485649	0.46313	0.116778955	0.28191	-2.023	0.03269	T	.	.	0.070	0.03515	B	.	.	-0.060916	0.03882	0.846	0.44043438297786625	0.03358	0.00875	0.03461	N	AEFBI	0.026237	0.01933	N	-1.29613371137322	0.03722	0.1667575	-1.32367044325818	0.04126	0.1939608	0.315819230129744	0.19334	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	2.96	0.867	0.18222	-0.336000	0.07908	-0.342000	0.09808	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4764:0.5236:0.0:0.0	7.658	0.27555	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.039859	0.071429	0.047684	0.055556	0.000000	0.017241	0.015337	0.015152	0.07895	2021.79	40	chr10	133240280	.	A	G	2021.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.584;DP=742;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.655;SOR=0.739	GT:AD:DP:GQ:PL	0/1:20,31:51:99:729,0,501	16	0	3	0
chr11	198231	198231	G	A	exonic	ODF3	.	nonsynonymous SNV	ODF3:NM_001286136:exon4:c.G343A:p.V115M,ODF3:NM_053280:exon4:c.G343A:p.V115M	.	424	1087	9	2	0	13	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0146208026472	0.0002	0.000399361	0.0003	0.0003	0.0002	0	0	0.0002	0.0035	0.0013	0.0002975	46	154602	rs142184660	0.0003	0.0003	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0014	0.0005	8.946e-05	0	2.519e-05	0	0.0026	0.0001	0.0004	0.0017	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	0.0005	0	0	0	0	0	0	7.351e-05	0	0.0010	0.22	0.21550	T	0.257	0.23231	T	0.814	0.45487	P	0.162	0.34839	B	0.012066	0.29301	N	0.154112	0.999523	0.47407	D	0.695	0.17993	N	1.51	0.30937	T	-0.87	0.25770	N	0.222	0.30004	-1.0833	0.06720	T	0.034	0.14683	T	10	0.012446582	0.00267	T	0.014621	0.34856	T	0.029	0.06676	.	.	0.221890330934	0.21812	0.42164403952584345	0.42080	0.235603024687	0.26090	0.584132671356	0.50668	T	0.009567	0.08705	T	-0.549754	0.00293	T	-0.587088	0.13920	T	0.00196405383758247	0.00020	T	0.730627	0.34608	T	0.03826866	0.05067	0.059195966	0.11068	0.03826866	0.05066	0.059195966	0.11068	-5.792	0.44505	T	.	.	0.210	0.43788	B	.;.	.;.	2.433867	0.31314	18.70	0.95457931125752282	0.26987	0.12553	0.17339	N	AEFDBI	0.062097	0.11915	N	-0.565781415577253	0.19991	1.050596	-0.576394602262108	0.20109	1.081946	0.370688425995673	0.19867	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.74	1.62	0.22817	1.175000	0.31553	4.083000	0.41752	-0.208000	0.08445	0.013000	0.18845	1.000000	0.68203	0.149000	0.20271	0.1971:0.1762:0.6267:0.0	4.806	0.12688	779	0.47767	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2881.33	36	chr11	198231	.	G	A	2881.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.211;DP=881;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.067;SOR=0.693	GT:AD:DP:GQ:PL	0/1:120,122:242:99:2895,0,2805	18	0	1	0
chr11	562307	562307	C	T	exonic	RASSF7	.	nonsynonymous SNV	RASSF7:NM_001143993:exon3:c.C353T:p.A118V,RASSF7:NM_001143994:exon3:c.C353T:p.A118V,RASSF7:NM_003475:exon3:c.C353T:p.A118V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00585593202245	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs771302601	9.591e-06	1.026e-05	1.091e-05	8.262e-06	0.0007	5.57e-06	4.35e-06	0.0002	0.0001	5.977e-05	0	0	0	0	0.0007	3.598e-06	6.63e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.18	0.29442	T	0.0	0.02946	B	0.002	0.06944	B	0.588071	0.11076	N	0.815368	1	0.08975	N	0.41	0.12415	N	1.44	0.33189	T	-0.9	0.24244	N	0.04	0.02366	-1.0122	0.26228	T	0.041	0.17446	T	10	0.050146163	0.04704	T	0.005856	0.15221	T	0.018	0.03083	0.157	0.06070	0.210429274316	0.20668	0.20221881386059026	0.20138	0.0222179674918	0.02231	0.327541381121	0.14563	T	0.004329	0.03739	T	-0.355422	0.04396	T	-0.748316	0.03552	T	0.0276047851787208	0.01631	T	0.611639	0.23235	T	0.03148449	0.02998	0.04016738	0.04279	0.03148449	0.02997	0.04016738	0.04279	-3.968	0.24445	T	.	.	0.081	0.10062	B	.;.;.;.	.;.;.;.	0.419642	0.07901	4.607	0.97108374200398939	0.32400	0.14712	0.18546	N	AEFBCI	0.043898	0.06995	N	-1.18663307336957	0.05201	0.2365644	-1.20415930771982	0.05843	0.2795405	0.999874788577503	0.44625	0.660085	0.49399	0	0.662677	0.63036	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	2.95	1.08	0.19456	-0.076000	0.11374	0.509000	0.19063	-0.187000	0.09635	0.000000	0.06391	0.001000	0.17328	0.101000	0.18331	0.0:0.7226:0.0:0.2774	8.723	0.33613	917	0.20147	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1676.83	34	chr11	562307	.	C	T	1676.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.19;DP=751;ExcessHet=0.119;FS=7.675;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.575;SOR=0.921	GT:AD:DP:GQ:PL	0/1:40,30:70:99:830,0,1033	17	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	8543.31	218	chr11	1018290	.	G	A	8543.31	.	AC=14;AF=0.368;AN=38;BaseQRankSum=4.18;DP=5186;ExcessHet=31.086;FS=18.111;InbreedingCoeff=-0.8095;MLEAC=14;MLEAF=0.368;MQ=55.27;MQRankSum=-8.441;QD=1.76;ReadPosRankSum=1.38;SOR=1.969	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:243,36:302:99:.:.:780,0,10095:.	5	0	14	0
chr11	1096086	1096086	G	0	exonic	MUC2	.	.	.	.	566	673	252	7	24	290	0.165012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	25958.0	336	chr11	1096086	.	G	*	25958.0	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.243;DP=6216;ExcessHet=5.6906;FS=0;InbreedingCoeff=-0.2862;MLEAC=4;MLEAF=0.105;MQ=56.85;MQRankSum=0.894;QD=7.23;ReadPosRankSum=0;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:306,47:353:99:0|1:1096074_CGACACCCATCAGCACCACCACTACGGTGACCCCAACACCAACACCCACCGGCACACAGACCCCAACCCT_C:765,0,12045:1096074	15	0	4	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	1368.84	440	chr11	1096155	.	C	*	1368.84	.	AC=9;AF=0.265;AN=34;BaseQRankSum=2.27;DP=8782;ExcessHet=6.9875;FS=1.819;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.294;MQ=55.63;MQRankSum=-1.462;QD=0.48;ReadPosRankSum=-6.177;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:112,91:267:99:.:.:3129,0,6566:.	8	0	9	2
chr11	1096168	1096168	G	0	exonic	MUC2	.	.	.	.	1	110	14	0	101	115	0.0598291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2015.37	440	chr11	1096168	.	G	*	2015.37	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.61;DP=9016;ExcessHet=8.9063;FS=1.149;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.263;MQ=55.65;MQRankSum=2.2;QD=0.58;ReadPosRankSum=-1.711;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:112,91:267:99:.:.:3129,0,6566:.	9	0	10	0
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	685.62	440	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	685.62	.	AC=9;AF=0.25;AN=36;BaseQRankSum=2.47;DP=8861;ExcessHet=6.9875;FS=1.838;InbreedingCoeff=-0.3818;MLEAC=9;MLEAF=0.25;MQ=57.05;MQRankSum=-2.059;QD=0.2;ReadPosRankSum=1.49;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:112,91:267:99:.:.:3129,0,6566:.	9	0	9	1
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	5030.81	440	chr11	1096180	.	C	*	5030.81	.	AC=8;AF=0.333;AN=24;BaseQRankSum=0.917;DP=8171;ExcessHet=6.9875;FS=1.141;InbreedingCoeff=-0.551;MLEAC=10;MLEAF=0.417;MQ=55.72;MQRankSum=-4.128;QD=1.58;ReadPosRankSum=0.461;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,91:260:99:0|1:1096074_CGACACCCATCAGCACCACCACTACGGTGACCCCAACACCAACACCCACCGGCACACAGACCCCAACCCT_C:3238,0,4564:1096074	4	0	8	7
chr11	1096743	1096743	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0052	0.0026	0.0024	0.0059	0.0023	0.0023	0.0041	0.0038	0.0056	0.0031	0.0026	0.0059	0.0052	0.0046	0.0020	0.0024	0.0050	0	0.0010	0	0	.	0	0	.	.	0	.	0	0	0	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	164.8	27	chr11	1096743	.	T	C	164.8	.	AC=3;AF=0.167;AN=18;BaseQRankSum=2.11;DP=702;ExcessHet=2.9231;FS=42.244;InbreedingCoeff=-0.1675;MLEAC=5;MLEAF=0.278;MQ=41.83;MQRankSum=-1.147;QD=0.86;ReadPosRankSum=-1.775;SOR=2.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,3:25:60:0|1:1096650_C_T:60,0,717:1096650	6	0	3	10
chr11	1096745	1096745	T	G	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0002	0.0001	0.0022	0.0001	0.0001	0.0012	0.0009	0.0022	0.0002	0	0	0.0005	0.0014	9.592e-05	0.0002	0.0001	0	5.35e-05	0	0	.	0	0	.	.	0	.	0	0	0	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	49.9	24	chr11	1096745	.	T	G	49.9	.	AC=1;AF=0.063;AN=16;BaseQRankSum=2.41;DP=703;ExcessHet=1.0667;FS=27.507;InbreedingCoeff=-0.0625;MLEAC=2;MLEAF=0.125;MQ=42.18;MQRankSum=-1.406;QD=0.32;ReadPosRankSum=-1.624;SOR=1.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,3:26:57:0|1:1096650_C_T:57,0,734:1096650	7	0	1	11
chr11	1096746	1096746	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0002	0.0001	9.388e-05	0.0016	9.128e-05	8.14e-05	0.0009	0.0007	0.0016	0.0001	0	0	0.0001	0.0009	8.058e-05	0.0002	7.458e-05	0	9.879e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	48.36	27	chr11	1096746	.	C	G	48.36	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.48;DP=709;ExcessHet=0.1773;FS=8.399;InbreedingCoeff=0.2112;MLEAC=2;MLEAF=0.1;MQ=42.25;MQRankSum=-1.406;QD=0.68;ReadPosRankSum=-1.861;SOR=1.287	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,3:26:57:0|1:1096650_C_T:57,0,734:1096650	9	0	1	9
chr11	1097836	1097836	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	689	813	20	0	0	20	0.0121507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381655864	0.0037	0.0059	0.0036	0.0039	0.0058	0.0036	0.0036	0.0037	0.0036	0.0011	0.0028	0.0031	0.0002	0.0123	0.0058	0.0038	0.0035	0.0039	0.0072	0.0056	0.0067	0.0078	0.0117	0.0064	0.0061	0.0102	0.0096	0.0017	0	0.0056	0	0.0010	0.0117	0	0.0117	0.0082	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2308	583.2	75	chr11	1097836	.	A	C	583.2	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-2.723;DP=1901;ExcessHet=2.0135;FS=28.862;InbreedingCoeff=-0.31;MLEAC=8;MLEAF=0.308;MQ=35.49;MQRankSum=-1.272;QD=1.2;ReadPosRankSum=-1.828;SOR=2.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,7:66:47:0|1:1097750_G_A:47,0,2050:1097750	7	0	6	6
chr11	1098588	1098588	G	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372350616	2.267e-05	0.0001	1.733e-05	2.814e-05	0.0002	1.625e-05	1.416e-05	1.527e-05	1.283e-05	0	0	0	0	0.0001	0.0002	2.258e-05	1.752e-05	1.286e-05	4.962e-05	0.0002	4.81e-05	5.123e-05	0.0003	2.081e-05	1.469e-05	2.308e-05	1.383e-05	3.244e-05	0	0	0	0.0003	0	0	6.894e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	192.33	151	chr11	1098588	.	G	A	192.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.939;DP=4397;ExcessHet=0;FS=1.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.27;MQRankSum=0.603;QD=5.06;ReadPosRankSum=4.69;SOR=0.959	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,10:38:99:0|1:1098587_T_C:206,0,1146:1098587	18	0	1	0
chr11	1098597	1098597	G	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1429188136	0.0009	0.0016	0.0008	0.0010	0.0068	0.0008	0.0008	0.0059	0.0055	0.0007	0.0026	0.0012	0.0026	0.0025	0	0.0006	0.0014	0.0068	0.0055	0.0073	0.0057	0.0052	0.0112	0.0045	0.0042	0.0069	0.0056	0.0073	0	0.0112	0	0.0046	0.0054	0	0.0043	0.0046	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	157.14	151	chr11	1098597	.	G	A	157.14	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.897;DP=4787;ExcessHet=0;FS=1.398;InbreedingCoeff=-0.268;MLEAC=2;MLEAF=0.2;MQ=50.01;MQRankSum=-0.129;QD=2.96;ReadPosRankSum=4.77;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,10:53:99:0|1:1098587_T_C:161,0,1776:1098587	4	0	1	14
chr11	1098605	1098605	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.171e-06	1.642e-05	1.428e-06	2.934e-06	1.28e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.863e-06	0	1.28e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	108.33	151	chr11	1098605	.	C	A	108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.262;DP=4421;ExcessHet=0;FS=2.939;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.57;MQRankSum=-0.175;QD=1.64;ReadPosRankSum=4.22;SOR=1.193	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,10:66:99:0|1:1098587_T_C:122,0,2321:1098587	18	0	1	0
chr11	1098606	1098606	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.026e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.953e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	105.33	151	chr11	1098606	.	C	T	105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.361;DP=4422;ExcessHet=0;FS=2.989;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.49;MQRankSum=-0.154;QD=1.57;ReadPosRankSum=4.07;SOR=1.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,10:67:99:0|1:1098587_T_C:119,0,2363:1098587	18	0	1	0
chr11	1098608	1098608	A	G	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186298516	1.173e-05	9.455e-05	1.447e-05	8.912e-06	0.0001	6.94e-06	5.62e-06	3.866e-05	2.295e-05	0	0.0001	0	0	2.618e-05	0	9.418e-06	0	1.284e-05	2.437e-05	0.0002	3.136e-05	1.686e-05	3.339e-05	6.48e-06	2.8e-06	5.54e-06	2.07e-06	3.108e-05	0	0	0	0	0	0	3.339e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	102.33	151	chr11	1098608	.	A	G	102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.244;DP=4423;ExcessHet=0;FS=2.948;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.18;MQRankSum=-0.08;QD=1.5;ReadPosRankSum=3.8;SOR=1.206	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,10:68:99:0|1:1098587_T_C:116,0,2405:1098587	18	0	1	0
chr11	1098612	1098612	G	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1436789669	0.0001	0.0007	0.0001	0.0001	0.0003	0.0001	9.618e-05	0.0002	0.0002	0.0001	0.0001	0.0003	0.0002	0.0002	0.0002	8.532e-05	0.0002	0.0003	0.0005	0.0011	0.0004	0.0005	0.0012	0.0003	0.0003	0.0006	0.0004	0.0003	0	0.0012	0	0.0004	0.0006	0	0.0004	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	93.33	441	chr11	1098612	.	G	C	93.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.417;DP=4834;ExcessHet=0;FS=3.043;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.8;MQRankSum=-0.025;QD=1.31;ReadPosRankSum=3.49;SOR=1.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,10:71:99:0|1:1098587_T_C:107,0,2508:1098587	18	0	1	0
chr11	1098950	1098950	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	797	724	1	0	0	1	0.000690131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs62637244	0.0201	0.0078	0.0200	0.0202	0.0382	0.0196	0.0194	0.0357	0.0347	0.0239	0.0175	0.0200	0.0228	0.0208	0.0066	0.0179	0.0231	0.0382	0.0062	0.0072	0.0058	0.0067	0.0090	0.0052	0.0048	0.0052	0.0042	0.0078	0.0114	0.0090	0.0025	0	0.0079	0	0.0057	0.0061	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	.	.	.	.	.	.	.	.	0.05882	894.4	88	chr11	1098950	.	A	C	894.4	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.381;DP=1359;ExcessHet=0.1259;FS=0;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.059;MQ=29.37;MQRankSum=2.88;QD=7.45;ReadPosRankSum=0.383;SOR=0.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,15:32:99:0|1:1098950_A_C:553,0,669:1098950	15	0	2	2
chr11	1098957	1098957	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.961e-06	5.974e-06	0	3.706e-06	3.126e-06	0	0	.	.	0	0	0	0	0	0	3.126e-06	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	.	.	.	.	.	.	.	.	0.02941	470.14	70	chr11	1098957	.	C	G	470.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.785;DP=1288;ExcessHet=0;FS=1.412;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=31.88;MQRankSum=2.56;QD=15.17;ReadPosRankSum=-0.441;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,13:31:99:0|1:1098950_A_C:483,0,717:1098950	16	0	1	2
chr11	1098974	1098974	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs12573875	0.0007	0.0017	0.0007	0.0007	0.0012	0.0006	0.0006	0.0008	0.0007	0.0010	0.0009	0.0007	0.0012	0.0005	0.0012	0.0006	0.0008	0.0009	0.0002	0.0005	0.0002	9.752e-05	0.0003	7.834e-05	5.55e-05	5.527e-05	3.375e-05	0.0003	0	0	0.0008	0	0	0	0.0002	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	.	.	.	.	.	.	.	.	0.02778	142.71	71	chr11	1098974	.	C	T	142.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.5;DP=1214;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=31.06;MQRankSum=0;QD=6.2;ReadPosRankSum=0.588;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,5:23:99:0|1:1098950_A_C:156,0,741:1098950	17	0	1	1
chr11	1098983	1098983	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs766070868	3.072e-05	9.27e-05	3.561e-05	2.606e-05	3.591e-05	2.045e-05	1.708e-05	2.296e-05	1.949e-05	0	0	0.0001	0	3.451e-05	0	3.591e-05	2.866e-05	0	1.624e-05	5.462e-05	3.17e-05	0	0.0007	0	0	.	.	0	0	0	0	0.0007	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	136.71	63	chr11	1098983	.	C	A	136.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.222;DP=1065;ExcessHet=0;FS=2.241;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=31.46;MQRankSum=-0.316;QD=5.47;ReadPosRankSum=-0.32;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,5:25:99:0|1:1098950_A_C:150,0,779:1098950	17	0	1	1
chr11	1099046	1099046	G	0	exonic	MUC2	.	.	.	.	714	672	60	2	74	138	0.0454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4081.72	134	chr11	1099046	.	G	*	4081.72	.	AC=2;AF=0.071;AN=28;BaseQRankSum=2.15;DP=1672;ExcessHet=2.9153;FS=8.54;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.071;MQ=39.03;MQRankSum=1.89;QD=7.07;ReadPosRankSum=0.028;SOR=1.24	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,31:122:99:.:.:155,0,3506:.	12	0	2	5
chr11	1099065	1099065	C	0	exonic	MUC2	.	.	.	.	675	709	63	4	71	142	0.047683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	4992.6	184	chr11	1099065	.	C	*	4992.6	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-0.608;DP=2007;ExcessHet=2.9153;FS=8.491;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.036;MQ=39.24;MQRankSum=0.547;QD=7.15;ReadPosRankSum=-0.533;SOR=1.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,31:122:99:.:.:155,0,3506:.	13	0	1	5
chr11	1099089	1099089	A	0	exonic	MUC2	.	.	.	.	675	729	53	0	65	118	0.0350761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	3863.89	245	chr11	1099089	.	A	*	3863.89	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-2.03;DP=2644;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.045;MQ=41.85;MQRankSum=-0.516;QD=7.17;ReadPosRankSum=-0.131;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,31:122:99:.:.:155,0,3506:.	10	0	1	8
chr11	1099146	1099146	C	0	exonic	MUC2	.	.	.	.	548	884	30	2	58	92	0.0188679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	1287.08	379	chr11	1099146	.	C	*	1287.08	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-2.89;DP=3408;ExcessHet=0.119;FS=14.819;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.033;MQ=45.88;MQRankSum=2.95;QD=4.56;ReadPosRankSum=-3.026;SOR=1.15	GT:AD:DP:GQ:PL	0/1:91,31:122:99:155,0,3506	14	0	1	4
chr11	1099161	1099161	A	0	exonic	MUC2	.	.	.	.	562	844	61	0	55	116	0.0348771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	4001.13	438	chr11	1099161	.	A	*	4001.13	.	AC=1;AF=0.042;AN=24;BaseQRankSum=0.024;DP=4043;ExcessHet=1.3;FS=4.63;InbreedingCoeff=-0.2881;MLEAC=1;MLEAF=0.042;MQ=48.11;MQRankSum=-5.005;QD=4.3;ReadPosRankSum=3.45;SOR=1.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,31:122:99:.:.:155,0,3506:.	11	0	1	7
chr11	1185014	1185037	CCAGAACAACCTCTGCCTCTCCAG	-	exonic	MUC5AC	.	nonframeshift deletion	MUC5AC:NM_001304359:exon31:c.6869_6892del:p.R2291_A2298del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0042	0.0036	0.0032	0.0081	0.0032	0.0032	0.0069	0.0065	0.0081	0.0034	0.0027	0.0030	0.0027	0.0020	0.0035	0.0037	0.0021	0.0024	0.0028	0.0025	0.0022	0.0029	0.0022	0.0021	0.0025	0.0023	0.0029	0.0044	0.0017	0.0009	0.0021	0.0043	0.0035	0.0019	0.0033	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7572.29	624	chr11	1185013	.	ACCAGAACAACCTCTGCCTCTCCAG	A	7572.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.08;DP=10159;ExcessHet=0;FS=0.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.41;MQRankSum=-7.094;QD=8.84;ReadPosRankSum=5.52;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:626,231:857:99:0|1:1185013_ACCAGAACAACCTCTGCCTCTCCAG_A:7586,0,25314:1185013	18	0	1	0
chr11	1185018	1185018	A	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	50751.3	624	chr11	1185018	.	A	*	50751.3	.	AC=1;AF=0.036;AN=28;BaseQRankSum=4.15;DP=12218;ExcessHet=2.0135;FS=3.282;InbreedingCoeff=-0.2881;MLEAC=1;MLEAF=0.036;MQ=58.18;MQRankSum=-9.077;QD=12.06;ReadPosRankSum=4.89;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:626,231:857:99:0|1:1185013_ACCAGAACAACCTCTGCCTCTCCAG_A:7586,0,25314:1185013	13	0	1	5
chr11	1185024	1185024	C	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	48607.3	624	chr11	1185024	.	C	*	48607.3	.	AC=1;AF=0.036;AN=28;BaseQRankSum=2.84;DP=12265;ExcessHet=2.0135;FS=2.55;InbreedingCoeff=-0.2881;MLEAC=1;MLEAF=0.036;MQ=58.2;MQRankSum=-9.539;QD=11.39;ReadPosRankSum=5.45;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:626,231:857:99:0|1:1185013_ACCAGAACAACCTCTGCCTCTCCAG_A:7586,0,25314:1185013	13	0	1	5
chr11	1185029	1185029	C	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	45510.3	624	chr11	1185029	.	C	*	45510.3	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-1.667;DP=12278;ExcessHet=2.0135;FS=3.398;InbreedingCoeff=-0.2881;MLEAC=1;MLEAF=0.036;MQ=58.19;MQRankSum=-10.05;QD=10.71;ReadPosRankSum=5.14;SOR=0.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:626,231:857:99:0|1:1185013_ACCAGAACAACCTCTGCCTCTCCAG_A:7586,0,25314:1185013	13	0	1	5
chr11	1185031	1185031	T	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	44264.3	624	chr11	1185031	.	T	*	44264.3	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-2.102;DP=12255;ExcessHet=2.0135;FS=3.427;InbreedingCoeff=-0.2881;MLEAC=1;MLEAF=0.036;MQ=58.19;MQRankSum=-10.27;QD=10.41;ReadPosRankSum=4.63;SOR=0.927	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:626,231:857:99:0|1:1185013_ACCAGAACAACCTCTGCCTCTCCAG_A:7586,0,25314:1185013	13	0	1	5
chr11	1185033	1185033	T	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3688.43	624	chr11	1185033	.	T	*	3688.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.012;DP=11992;ExcessHet=0.119;FS=0.577;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=59.68;MQRankSum=-6.505;QD=2.49;ReadPosRankSum=-2.062;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:626,231:857:99:0|1:1185013_ACCAGAACAACCTCTGCCTCTCCAG_A:7586,0,25314:1185013	18	0	1	0
chr11	1185034	1185034	C	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	42678.0	624	chr11	1185034	.	C	*	42678.0	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-4.525;DP=12063;ExcessHet=2.0135;FS=3.459;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.033;MQ=58.18;MQRankSum=-10.77;QD=9.99;ReadPosRankSum=3.75;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:626,231:857:99:0|1:1185013_ACCAGAACAACCTCTGCCTCTCCAG_A:7586,0,25314:1185013	14	0	1	4
chr11	1185037	1185037	G	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	41204.0	624	chr11	1185037	.	G	*	41204.0	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-2.297;DP=12138;ExcessHet=2.0135;FS=3.496;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.033;MQ=58.2;MQRankSum=-10.85;QD=9.54;ReadPosRankSum=3.14;SOR=0.951	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:626,231:857:99:0|1:1185013_ACCAGAACAACCTCTGCCTCTCCAG_A:7586,0,25314:1185013	14	0	1	4
chr11	1185047	1185047	C	-	exonic	MUC5AC	.	frameshift deletion	MUC5AC:NM_001304359:exon31:c.6902delC:p.S2302Lfs*23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0027	0.0025	0.0021	0.0058	0.0022	0.0021	0.0048	0.0044	0.0058	0.0020	0.0021	0.0019	0.0022	0.0015	0.0024	0.0026	0.0012	0.0020	0.0023	0.0021	0.0019	0.0024	0.0018	0.0017	0.0020	0.0019	0.0024	0.0044	0.0012	0.0003	0.0021	0.0041	0.0068	0.0016	0.0024	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7517.29	624	chr11	1185046	.	AC	A	7517.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.452;DP=11972;ExcessHet=0;FS=1.22;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.33;MQRankSum=-7.404;QD=9.2;ReadPosRankSum=0.778;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:592,225:817:99:0|1:1185013_ACCAGAACAACCTCTGCCTCTCCAG_A:7531,0,24091:1185013	18	0	1	0
chr11	1185047	1185047	C	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	35179.0	624	chr11	1185047	.	C	*	35179.0	.	AC=1;AF=0.033;AN=30;BaseQRankSum=1.04;DP=12119;ExcessHet=2.0135;FS=3.611;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.033;MQ=58.21;MQRankSum=-11.45;QD=8.22;ReadPosRankSum=-0.667;SOR=0.983	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:592,225:817:99:0|1:1185013_ACCAGAACAACCTCTGCCTCTCCAG_A:7531,0,24091:1185013	14	0	1	4
chr11	1185050	1185120	CTGGTCCTGGAAATACTCCCAGCCCTGTTCCTACCACCAGCACAATCTCTGCTCCTACAACTAGCATAACC	-	exonic	MUC5AC	.	frameshift deletion	MUC5AC:NM_001304359:exon31:c.6905_6975del:p.S2302Ffs*68	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0025	0.0015	0.0014	0.0044	0.0014	0.0013	0.0036	0.0033	0.0044	0.0008	0.0012	0.0011	0.0018	0.0010	0.0015	0.0018	0.0005	0.0016	0.0022	0.0017	0.0014	0.0022	0.0014	0.0013	0.0018	0.0017	0.0022	0.0044	0.0009	0.0003	0.0016	0.0033	0.0034	0.0011	0.0019	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5929.29	624	chr11	1185049	.	TCTGGTCCTGGAAATACTCCCAGCCCTGTTCCTACCACCAGCACAATCTCTGCTCCTACAACTAGCATAACC	T	5929.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.241;DP=12491;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.47;MQRankSum=-9.714;QD=4.56;ReadPosRankSum=-0.049;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1080,221:1301:99:0|1:1185013_ACCAGAACAACCTCTGCCTCTCCAG_A:5943,0,44501:1185013	18	0	1	0
chr11	1185057	1185059	TGG	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	28735.8	624	chr11	1185057	.	TGG	*	28735.8	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.227;DP=12672;ExcessHet=2.0135;FS=5.022;InbreedingCoeff=-0.1875;MLEAC=1;MLEAF=0.026;MQ=58.25;MQRankSum=-12.74;QD=6;ReadPosRankSum=-2.47;SOR=1.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1080,221:1301:99:0|1:1185013_ACCAGAACAACCTCTGCCTCTCCAG_A:5943,0,44501:1185013	18	0	1	0
chr11	1185062	1185062	A	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	23152.9	624	chr11	1185062	.	A	*	23152.9	.	AC=1;AF=0.033;AN=30;BaseQRankSum=1.58;DP=14671;ExcessHet=2.0135;FS=4.853;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.033;MQ=58.95;MQRankSum=-11.16;QD=4.34;ReadPosRankSum=-3.575;SOR=0.997	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1177,382:1566:99:.:.:5538,0,50413:.	14	0	1	4
chr11	1185069	1185069	C	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	21253.0	624	chr11	1185069	.	C	*	21253.0	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-0.391;DP=13100;ExcessHet=2.0135;FS=2.898;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.033;MQ=58.29;MQRankSum=-14.52;QD=4.16;ReadPosRankSum=-7.401;SOR=0.973	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1177,382:1566:99:.:.:5538,0,50413:.	14	0	1	4
chr11	1185095	1185095	T	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4596.08	624	chr11	1185095	.	T	*	4596.08	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.77;DP=13305;ExcessHet=0.7564;FS=3.158;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=58.42;MQRankSum=-19.84;QD=1.12;ReadPosRankSum=-11.03;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1177,382:1566:99:.:.:5538,0,50413:.	18	0	1	0
chr11	1185103	1185103	C	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	1328.21	624	chr11	1185103	.	C	*	1328.21	.	AC=1;AF=0.029;AN=34;BaseQRankSum=4.09;DP=13231;ExcessHet=0.119;FS=3.193;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.029;MQ=58.15;MQRankSum=-26.17;QD=0.58;ReadPosRankSum=-9.95;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1177,382:1566:99:.:.:5538,0,50413:.	16	0	1	2
chr11	1185111	1185111	T	0	exonic	MUC5AC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	274.21	624	chr11	1185111	.	T	*	274.21	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.62;DP=13273;ExcessHet=0.119;FS=4.292;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.029;MQ=58.57;MQRankSum=-26.48;QD=0.12;ReadPosRankSum=-9.109;SOR=0.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1177,382:1566:99:.:.:5538,0,50413:.	16	0	1	2
chr11	1185125	1185125	C	T	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.C6980T:p.A2327V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0024	0.0016	0.0014	0.0045	0.0014	0.0014	0.0037	0.0034	0.0045	0.0009	0.0014	0.0011	0.0017	0.0010	0.0016	0.0020	0.0005	0.0017	0.0020	0.0018	0.0015	0.0022	0.0015	0.0014	0.0018	0.0017	0.0022	0.0044	0.0009	0.0003	0.0017	0.0034	0.0068	0.0012	0.0024	0.0015	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.01825	.	.	.	.	.	.	.	0.030103236	0.01137	T	.	.	.	.	.	.	.	.	.	0.08657609751082218	0.08591	.	.	.	.	.	0.049322	0.28273	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.66	0.51508	T	.	.	0.094	0.14568	B	.	.	0.071562	0.04796	1.408	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.225000	0.03066	-0.365000	0.09647	0.274000	0.18563	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	6018.71	624	chr11	1185125	.	C	T	6018.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.691;DP=12714;ExcessHet=0;FS=0.657;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=59.43;MQRankSum=-10.24;QD=5.72;ReadPosRankSum=-3.085;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:844,208:1064:99:0|1:1185013_ACCAGAACAACCTCTGCCTCTCCAG_A:6032,0,36900:1185013	17	0	1	1
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	57352.6	206	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	57352.6	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.38;DP=3777;ExcessHet=0.1504;FS=1.658;InbreedingCoeff=0.2083;MLEAC=13;MLEAF=0.342;MQ=58.69;MQRankSum=-5.209;QD=18.99;ReadPosRankSum=0.122;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,67:151:99:.:.:5746,2819,3647:.	8	2	9	0
chr11	1956322	1956322	G	A	exonic	MRPL23	.	nonsynonymous SNV	MRPL23:NM_021134:exon5:c.G364A:p.A122T	.	428	679	340	75	0	490	0.265152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.1153	0.142772	0.1731	0.0428	0.2377	0.1502	0.1645	0.1581	0.1944	0.2832	0.166764	25782	154602	rs12812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.06086	T	0.592	0.08161	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.19781	P	0	0.06538	N	2.52	0.14160	T	-0.23	0.10656	N	0.018	0.00279	-0.9925	0.31959	T	0.000	0.00011	T	8	0.0044080913	0.00090	T	.	.	.	0.008	0.00669	.	.	.	.	0.3396820372802284	0.33881	0.158737186331	0.17918	0.323130786419	0.13895	T	3.62E-4	0.00107	T	-0.856647	0.00002	T	-0.85947	0.00848	T	0.000831064513770241	0.00008	T	0.40486	0.10377	T	0.021729477	0.00791	0.044156004	0.05659	0.021729477	0.00791	0.044156004	0.05658	-3.8	0.20805	T	.	.	0.067	0.02428	B	.;.	.;.	-0.790885	0.01125	0.052	0.76585184520990723	0.11527	0.04910	0.10661	N	AEFDBCI	0.224046	0.34832	N	-2.24886597635347	0.00060	0.002550947	-2.33368636121022	0.00056	0.002449201	0.999997702142817	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.24	-6.48	0.01726	-1.253000	0.02987	-3.952000	0.02431	-1.233000	0.01324	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2037:0.1638:0.4707:0.1619	3.030	0.05732	964	0.07719	.;.	.	.	.	.	rs12812	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.184290	0.131313	0.144022	0.184211	0.150000	0.232759	0.243902	0.219697	0.2105	23862.2	50	chr11	1956322	.	G	A	23862.2	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.91;DP=1732;ExcessHet=0.0419;FS=0;InbreedingCoeff=0.3667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=1.84;SOR=0.676	GT:AD:DP:GQ:PL	0/1:97,132:229:99:3258,0,2048	13	2	4	0
chr11	2415181	2415181	G	T	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon9:c.C1419A:p.F473L	.	409	1105	8	0	0	8	0.00360685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260	0.0933959245341	0.0006	0.000998403	0.0019	0	0.0007	0	0.0025	0.0029	0	0.0013	0.0007115	110	154602	rs201638929	0.0006	0.0006	0.0006	0.0006	0.0014	0.0006	0.0006	0.0009	0.0008	6.077e-05	0.0002	0.0120	0	0.0006	0.0014	0.0003	0.0010	0.0011	0.0006	0.0006	0.0005	0.0006	0.0004	0.0005	0.0004	0.0003	0.0002	7.217e-05	0	0.0002	0.0121	0	0.0007	0	0.0004	0.0014	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.01	0.15535	B	0.013	0.17295	B	0.000000	0.84330	D	0.000000	0.995102	0.42546	D	0.69	0.16971	N	0.13	0.60973	T	0.6	0.02518	N	0.55	0.57604	-1.0278	0.21168	T	0.075	0.30117	T	10	0.009403288	0.00212	T	0.093396	0.76066	D	0.260	0.57221	0.394	0.41935	0.0551355673512	0.04727	0.45379199618112687	0.45297	0.357763952978	0.37491	0.926101922989	0.98752	D	0.118111	0.43868	T	-0.323625	0.06605	T	-0.295416	0.45207	T	0.027641850480558	0.01636	T	0.783522	0.42019	T	0.15281197	0.34670	0.1548644	0.36328	0.15281197	0.34669	0.1548644	0.36327	-7.611	0.58387	D	.	.	0.813	0.77883	P	.;.;.;.	.;.;.;.	1.937284	0.24609	16.46	0.97010533188149317	0.31981	0.91660	0.53993	D	AEFDBI	0.600262	0.59296	D	-0.582383874635545	0.19479	1.019851	-0.431075272461032	0.24090	1.317294	0.0166256165440514	0.12853	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.21	3.21	0.35933	1.762000	0.38080	1.709000	0.28183	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.1395:0.2412:0.6193:0.0	4.332	0.10507	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001015	0.000000	0.000000	0.000000	0.000000	0.000000	0.006211	0.000000	0.02632	1203.33	35	chr11	2415181	.	G	T	1203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.098;DP=807;ExcessHet=0;FS=0.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=1.32;SOR=0.518	GT:AD:DP:GQ:PL	0/1:29,42:71:99:1217,0,745	18	0	1	0
chr11	4545963	4545963	T	C	exonic	OR52M1	.	nonsynonymous SNV	OR52M1:NM_001004137:exon1:c.T773C:p.I258T	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0050	0.00359425	0.0012	0.0134	0.0004	0	0	0	0	0	0.0011125	172	154602	rs111748026	0.0004	0.0004	0.0005	0.0003	0.0140	0.0004	0.0004	0.0130	0.0125	0.0140	0.0004	0	0	0	0.0010	2.518e-05	0.0011	1.159e-05	0.0038	0.0038	0.0039	0.0036	0.0134	0.0035	0.0034	0.0125	0.0121	0.0134	0	0.0005	0	0	0	0	8.822e-05	0.0009	0	0.03	0.45393	D	0.043	0.49942	D	0.022	0.18677	B	0.02	0.19048	B	0.000198	0.48115	D	0.000000	0.995774	0.23204	N	1.8	0.47472	L	1.18	0.37746	T	0.08	0.06026	N	0.096	0.07673	-1.0499	0.14425	T	0.036	0.15683	T	10	0.004607916	0.00096	T	.	.	.	0.119	0.33137	.	.	0.373715746628	0.36985	0.1143361205998894	0.11361	.	.	0.220195114613	0.01321	T	0.002313	0.01710	T	-0.517681	0.00454	T	-0.504066	0.21926	T	0.017522945614658	0.00487	T	0.320668	0.06474	T	0.096516065	0.22734	0.0819402	0.18662	0.096516065	0.22734	0.0819402	0.18661	-4.564	0.31716	T	.	.	0.359	0.57136	A	.	.	1.852508	0.23531	16.05	0.98752869835112256	0.45694	0.09077	0.14904	N	AEFBI	0.056890	0.10553	N	-0.347247966392236	0.27374	1.501325	-0.256829266493838	0.29537	1.655595	0.00295229161137247	0.09827	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.91	3.8	0.42887	-2.392000	0.01134	.	.	0.661000	0.55757	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.156:0.0872:0.0:0.7569	5.524	0.16234	800	0.44535	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1591.33	33	chr11	4545963	.	T	C	1591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.169;DP=1322;ExcessHet=0;FS=3.044;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.947;SOR=0.968	GT:AD:DP:GQ:PL	0/1:83,58:141:99:1605,0,2354	18	0	1	0
chr11	4586900	4586900	C	A	exonic	OR52I2	.	nonsynonymous SNV	OR52I2:NM_001005170:exon1:c.C88A:p.P30T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00157636899361	0.0023	0.00159744	0.0005	0.0055	0.0003	0	0	0	0	0	0.0004528	70	154602	rs138816802	0.0002	0.0002	0.0002	0.0001	0.0058	0.0002	0.0001	0.0051	0.0049	0.0058	0.0002	0	0	0	0.0010	2.698e-06	0.0006	1.159e-05	0.0017	0.0017	0.0017	0.0016	0.0055	0.0015	0.0014	0.0049	0.0047	0.0055	0	0.0010	0	0	0	0	7.352e-05	0.0014	0	0.097	0.30943	T	0.215	0.26306	T	0.003	0.11197	B	0.003	0.08700	B	0.903875	0.07373	N	1.061420	1	0.08975	N	0.67	0.16346	N	1.15	0.38236	T	-0.33	0.12472	N	0.055	0.02658	-0.9973	0.30673	T	0.038	0.16419	T	10	0.005074322	0.00110	T	0.001576	0.02497	T	0.021	0.04004	.	.	0.0482279557977	0.04254	0.0887850127518402	0.08811	0.200644156169	0.22463	0.220126777887	0.01317	T	8.24E-4	0.00404	T	-0.592108	0.00163	T	-0.620825	0.11121	T	0.0120336990281662	0.00190	T	0.592541	0.22456	T	0.033336163	0.03532	0.036083065	0.02983	0.033336163	0.03532	0.036083065	0.02983	-3.653	0.18627	T	.	.	0.067	0.05535	B	.;.;.	.;.;.	0.220106	0.06026	2.467	0.27213487042815615	0.01340	0.01746	0.05505	N	AEFGBI	0.034590	0.04311	N	-1.14565970389825	0.05851	0.2678475	-1.19663585087306	0.05966	0.2857773	4.97367140149368E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.14	-0.355	0.11961	-0.533000	0.06245	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.176000	0.21171	0.1789:0.3124:0.1745:0.3342	0.52	0.00570	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.015152	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	5006.33	33	chr11	4586900	.	C	A	5006.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.358;DP=1251;ExcessHet=0;FS=1.908;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59;MQRankSum=4.52;QD=15.74;ReadPosRankSum=-0.559;SOR=0.821	GT:AD:DP:GQ:PL	0/1:136,182:318:99:5020,0,3717	18	0	1	0
chr11	4769334	4769334	C	T	exonic	OR51F1	.	nonsynonymous SNV	OR51F1:NM_001004752:exon1:c.G605A:p.R202Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0045	0.00359425	0.0013	0.0141	0.0003	0.0001	0	1.498e-05	0	6.057e-05	0.0012225	189	154602	rs16938368	0.0004	0.0004	0.0005	0.0003	0.0140	0.0004	0.0004	0.0129	0.0125	0.0140	0.0007	0	0.0002	0	0	4.679e-05	0.0007	4.638e-05	0.0041	0.0041	0.0044	0.0039	0.0140	0.0039	0.0038	0.0131	0.0127	0.0140	0	0.0022	0	0	0	0.0034	8.824e-05	0.0038	0	0.081	0.33418	T	.	.	.	0.126	0.26920	B	0.029	0.21540	B	0.530529	0.11643	N	0.722649	1	0.08975	N	1.82	0.47800	L	8.78	0.00058	T	-1.59	0.38345	N	0.058	0.02964	-1.0433	0.16324	T	0.000	0.00114	T	10	0.003645748	0.00067	T	.	.	.	0.020	0.03691	.	.	0.21279746466	0.20884	0.05900155648494125	0.05841	.	.	0.153796985745	0.00006	T	0.005421	0.04871	T	-0.74868	0.00018	T	-0.835229	0.01173	T	0.00935904503992739	0.00120	T	0.0389961	0.00280	T	0.0918455	0.21533	0.1516062	0.35705	0.0918455	0.21532	0.1516062	0.35704	-5.172	0.38656	T	.	.	0.087	0.11414	B	.;.	.;.	0.292293	0.06685	3.189	0.74472562937448017	0.10708	0.01765	0.05546	N	AEFI	0.059580	0.11263	N	-1.3211759227173	0.03433	0.1533606	-1.43940743252174	0.02867	0.1326976	6.30443221643867E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	-4.26	0.03497	-4.210000	0.00311	.	.	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.271000	0.23793	0.0:0.3071:0.2029:0.49	7.482	0.26577	848	0.35897	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2144.33	34	chr11	4769334	.	C	T	2144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.13;DP=1390;ExcessHet=0;FS=2.015;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=1.94;SOR=0.812	GT:AD:DP:GQ:PL	0/1:76,78:154:99:2158,0,1865	18	0	1	0
chr11	4999313	4999313	T	C	exonic	OR51L1	.	nonsynonymous SNV	OR51L1:NM_001004755:exon3:c.T331C:p.F111L	.	.	.	.	.	.	.	.	.	.	.	2764385	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.117	0.00343203194161	0.0006	.	9.062e-05	0.0011	0	0	0	0	0	0	7.12e-05	11	154602	rs138440814	2.326e-05	2.326e-05	2.722e-05	1.925e-05	0.0009	1.674e-05	1.477e-05	0.0007	0.0006	0.0009	0	0	0	0	0	0	3.311e-05	1.159e-05	0.0003	0.0003	0.0003	0.0002	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	0	0	0	0	0	0	0	0	0.352	0.12226	T	0.425	0.13912	T	0.007	0.14184	B	0.007	0.12992	B	0.019046	0.27344	N	0.175081	0.999962	0.18878	N	0.215	0.09537	N	4.11	0.02916	T	-0.88	0.23808	N	0.094	0.07398	-0.9241	0.44985	T	0.008	0.02926	T	10	0.019286186	0.00429	T	0.003432	0.07725	T	0.117	0.32689	0.231	0.15855	0.186928172975	0.18263	0.18983102472498348	0.18901	0.0377200124291	0.04003	0.420364558697	0.27886	T	0.003053	0.02453	T	-0.520638	0.00436	T	-0.576985	0.14815	T	0.0325589085718605	0.02399	T	0.410359	0.10588	T	0.27428803	0.50495	0.18489279	0.41569	0.27428803	0.50495	0.18489279	0.41568	-4.775	0.34298	T	.	.	0.843	0.80211	P	.;.	.;.	1.797569	0.22847	15.79	0.96891601614480116	0.31500	0.25935	0.22847	N	AEFI	0.131081	0.24988	N	-0.507129115871591	0.21848	1.162524	-0.352793698478478	0.26422	1.459364	0.00239001602540038	0.09378	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	-2.030000	0.01516	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.105000	0.18517	0.0:0.0:0.0:1.0	14.045	0.64221	882	0.29131	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2714.33	285	chr11	4999313	.	T	C	2714.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.323;DP=2591;ExcessHet=0;FS=2.291;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.606;SOR=0.534	GT:AD:DP:GQ:PL	0/1:121,102:223:99:2728,0,3320	18	0	1	0
chr11	5301945	5301945	A	G	exonic	OR51B4	.	startloss	OR51B4:NM_033179:exon1:c.T2C:p.M1?	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	.	0.0073	0.0061901	0.0026	0.0206	0.0011	0	0	0.0002	0.0013	0.0060	0.0023092	357	154602	rs113985785	0.0010	0.0010	0.0010	0.0010	0.0223	0.0010	0.0009	0.0210	0.0204	0.0223	0.0018	0	2.556e-05	0	0.0030	0.0001	0.0021	0.0049	0.0066	0.0066	0.0065	0.0066	0.0214	0.0063	0.0061	0.0202	0.0197	0.0214	0	0.0046	0	0	0	0	0.0001	0.0057	0.0052	0.001	0.78490	D	0.002	0.79402	D	0.948	0.53620	P	0.65	0.52463	P	0.002747	0.36001	N	0.130271	1	0.81001	D	.	.	.	9.85	0.00002	T	-0.98	0.25986	N	0.705	0.70878	0.513	0.90730	D	0.000	0.00039	T	9	0.009265542	0.00209	T	.	.	.	0.174	0.44019	.	.	0.384419519794	0.38055	0.2826597364945606	0.28178	.	.	.	.	.	0.00241	0.01807	T	-0.563692	0.00241	T	-0.565561	0.15858	T	0.0783418291289034	0.09774	T	0.9	0.65058	D	0.70559895	0.78364	0.5048777	0.71381	0.70559895	0.78366	0.5048777	0.71381	-7.83	0.59906	D	.	.	.	.	.	.	.	2.181826	0.27809	17.59	0.99066592529915898	0.51621	0.82543	0.41756	D	AEFBI	0.026063	0.01892	N	0.184109858644234	0.50437	3.233624	0.116001285247604	0.45367	2.801101	0.20268068041816	0.18143	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	4.29	0.50359	2.568000	0.45628	.	.	0.715000	0.85334	0.907000	0.31601	0.007000	0.19602	0.009000	0.08673	0.9023:0.0:0.0977:0.0	7.930	0.29057	821	0.40814	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	682.33	35	chr11	5301945	.	A	G	682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.222;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=-0.121;SOR=0.804	GT:AD:DP:GQ:PL	0/1:22,24:46:99:696,0,603	18	0	1	0
chr11	5544844	5544844	G	A	exonic	OR52H1	.	nonsynonymous SNV	OR52H1:NM_001005289:exon1:c.C680T:p.A227V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	0.0035	0.00519169	0.0012	0.0129	0.0005	0	0	9.004e-05	0	0.0002	0.0011902	184	154602	rs114706438	0.0004	0.0004	0.0004	0.0004	0.0115	0.0004	0.0004	0.0106	0.0102	0.0115	0.0008	0	7.557e-05	0	0.0014	9.263e-05	0.0007	0.0002	0.0035	0.0035	0.0039	0.0031	0.0125	0.0033	0.0032	0.0116	0.0112	0.0125	0	0.0009	0	0	0	0	1.47e-05	0.0019	0.0002	.	.	.	.	.	.	0.0	0.02946	B	0.005	0.11217	B	0.945420	0.08325	N	0.974151	1	0.08975	N	-0.72	0.01791	N	.	.	.	.	.	.	.	.	-1.0582	0.12209	T	0.000	0.00039	T	10	0.0032142997	0.00055	T	.	.	.	0.021	0.04004	.	.	0.0716867268079	0.06686	0.12707670986741165	0.12633	0.016936993713	0.01637	0.172985255718	0.00045	T	2.99E-4	0.00073	T	-0.776256	0.00012	T	-0.876138	0.00687	T	0.00323111843291435	0.00034	T	0.553245	0.19112	T	0.027736206	0.02008	0.04623317	0.06399	0.027736206	0.02007	0.04623317	0.06398	-3.235	0.12914	T	.	.	0.079	0.07460	B	.;.	.;.	-0.976792	0.00804	0.027	0.42333162764988241	0.03113	0.02864	0.07632	N	AEFGI	0.059954	0.11360	N	-1.49395068059523	0.01892	0.08303365	-1.41110112113972	0.03140	0.1459046	0.0028984487729005	0.09781	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.37	1.37	0.21200	-0.998000	0.03812	.	.	-0.702000	0.04048	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3033:0.1359:0.5607:0.0	5.357	0.15373	705	0.57330	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	3624.33	238	chr11	5544844	.	G	A	3624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.735;DP=3254;ExcessHet=0;FS=1.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.45;ReadPosRankSum=0.156;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,94:169:99:0|1:5544844_G_A:3638,0,2767:5544844	18	0	1	0
chr11	5544854	5544854	C	T	exonic	OR52H1	.	nonsynonymous SNV	OR52H1:NM_001005289:exon1:c.G670A:p.V224I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0035	0.00519169	0.0012	0.0129	0.0004	0	0	9.005e-05	0	0.0002	0.0011837	183	154602	rs116559175	0.0004	0.0004	0.0004	0.0004	0.0115	0.0004	0.0004	0.0106	0.0102	0.0115	0.0008	0	7.557e-05	0	0.0014	9.263e-05	0.0007	0.0002	0.0035	0.0035	0.0039	0.0031	0.0125	0.0033	0.0032	0.0116	0.0113	0.0125	0	0.0008	0	0	0	0	1.47e-05	0.0019	0.0002	.	.	.	.	.	.	0.001	0.07471	B	0.015	0.17295	B	0.287297	0.14834	N	0.623449	0.999971	0.18612	N	0.305	0.10234	N	.	.	.	.	.	.	.	.	-1.0345	0.19014	T	0.016	0.06664	T	10	0.0060061514	0.00135	T	.	.	.	0.010	0.01040	.	.	0.0611884634855	0.05136	0.12190030195196426	0.12117	0.0171711925401	0.01662	0.184940993786	0.00148	T	0.001	0.00865	T	-0.72011	0.00028	T	-0.795488	0.02017	T	0.00236271535413769	0.00024	T	0.686731	0.29555	T	0.06096948	0.12573	0.037267614	0.03343	0.06096948	0.12573	0.037267614	0.03342	-3.235	0.12914	T	.	.	0.070	0.03698	B	.;.	.;.	-0.273852	0.02733	0.363	0.67124997072851722	0.08261	0.02652	0.07260	N	AEFGI	0.068039	0.13403	N	-1.49901865907198	0.01857	0.08145481	-1.47131916230336	0.02582	0.1190151	0.00362918943852268	0.10207	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.37	-1.66	0.07824	-4.064000	0.00342	.	.	-0.855000	0.02678	0.000000	0.06391	0.000000	0.08366	0.196000	0.21779	0.2217:0.3712:0.1128:0.2943	0.907	0.01206	705	0.57330	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	3533.33	238	chr11	5544854	.	C	T	3533.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=3251;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.03;ReadPosRankSum=0.278;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,92:168:99:0|1:5544844_G_A:3547,0,2816:5544844	18	0	1	0
chr11	5545321	5545321	A	-	exonic	OR52H1	.	frameshift deletion	OR52H1:NM_001005289:exon1:c.203delT:p.F68Sfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.00519169	0.0012	0.0128	0.0004	0	0	8.999e-05	0	0.0002	0.0009767	151	154602	rs374926660	0.0004	0.0004	0.0004	0.0004	0.0116	0.0004	0.0004	0.0106	0.0102	0.0116	0.0008	0	7.557e-05	0	0.0014	9.262e-05	0.0007	0.0002	0.0035	0.0035	0.0039	0.0031	0.0125	0.0033	0.0032	0.0116	0.0112	0.0125	0	0.0008	0	0	0	0	1.47e-05	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2150.29	40	chr11	5545320	.	GA	G	2150.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.584;DP=834;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=0.13;SOR=0.755	GT:AD:DP:GQ:PL	0/1:58,68:126:99:2164,0,1789	18	0	1	0
chr11	5777665	5777665	C	T	exonic	OR52N5	.	nonsynonymous SNV	OR52N5:NM_001001922:exon1:c.G970A:p.G324S,OR52N5:NM_001385662:exon3:c.G970A:p.G324S	.	511	1010	1	0	0	1	0.000494805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0019	0.000998403	0.0005	0.0052	9.377e-05	0	0	0	0	0	0.0003946	61	154602	rs147305913	0.0001	0.0001	0.0002	0.0001	0.0059	0.0001	0.0001	0.0052	0.0049	0.0059	5.928e-05	0	0	0	0.0006	9.797e-07	0.0002	1.406e-05	0.0014	0.0015	0.0016	0.0012	0.0050	0.0013	0.0012	0.0044	0.0042	0.0050	0	0.0004	0	0	0	0	0	0.0027	0	0.399	0.10517	T	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	9.78	0.00004	T	0.53	0.02808	N	0.138	0.13626	-1.1785	0.00392	T	0.000	0.00039	T	9	0.008258641	0.00187	T	.	.	.	0.013	0.01715	.	.	0.0297737177859	0.01360	0.07434725365499091	0.07370	0.0649631059418	0.07257	0.266180694103	0.05649	T	0.001532	0.00977	T	-0.425643	0.01576	T	-0.729202	0.04363	T	0.00308808715877155	0.00032	T	0.407759	0.10493	T	0.026498744	0.01716	0.03813575	0.03616	0.026498744	0.01715	0.03813575	0.03616	-2.564	0.06235	T	.	.	0.078	0.06896	B	.;.	.;.	-0.883472	0.00954	0.037	0.61898360862486335	0.06825	0.00218	0.01233	N	AEFBI	0.013759	0.00194	N	-1.54406228503962	0.01569	0.06857768	-1.58561769260732	0.01743	0.07927051	4.45662311743646E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.26	-2.28	0.06438	-0.815000	0.04588	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1967:0.3727:0.0:0.4307	3.186	0.06206	732	0.54084	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	1627.13	.	chr11	5777665	.	C	T	1627.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.12;DP=705;ExcessHet=0;FS=2.151;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.219;SOR=0.519	GT:AD:DP:GQ:PL	0/1:80,64:144:99:1640,0,2129	16	0	1	2
chr11	6200107	6200107	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C884G:p.P295R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	0.0539634185351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0021	0.0008	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	0.0007	2.238e-05	0.0002	0.0002	1.93e-05	0.0005	0.0008	0.0004	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.977	0.58535	D	0.689	0.53736	P	0.034271	0.24791	N	0.198413	0.569916	0.32285	D	5.07	0.99906	H	-0.08	0.63911	T	-8.12	0.96707	D	0.8	0.79599	0.418	0.89363	D	0.499	0.81057	T	10	0.9466181	0.93989	D	0.053963	0.65674	D	0.400	0.71401	0.737	0.86978	0.756562400578	0.75435	0.47455396514490583	0.47374	0.062343724922	0.06938	0.315678536892	0.12767	T	0.146888	0.48470	T	0.167539	0.70898	D	0.00288233	0.70523	D	0.995080590248108	0.86803	D	0.934707	0.75503	D	0.9610508	0.97386	0.9567188	0.98791	0.9610508	0.97386	0.9567188	0.98791	-12.124	0.85450	D	.	.	0.505	0.64808	A	.	.	2.707812	0.35383	19.88	0.97301537367121227	0.33280	0.95966	0.66930	D	AEFBI	0.511260	0.53997	D	0.208503100090119	0.51610	3.340933	0.082639564659092	0.43676	2.664457	0.99944430790802	0.39736	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	3.23	0.36150	4.053000	0.57139	3.151000	0.36525	-0.172000	0.11096	0.999000	0.42656	0.986000	0.30841	0.667000	0.33166	0.0:0.8582:0.0:0.1418	13.827	0.62847	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2105	690.21	161	chr11	6200107	.	C	G	690.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-6.451;DP=2311;ExcessHet=4.0268;FS=110.401;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.63;SOR=10.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:156,16:177:64:.:.:64,0,6156:.	11	0	8	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0114858743224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.419	0.14158	T	0.911	0.50336	P	0.158	0.34617	B	0.003626	0.34687	N	0.000000	0.905535	0.36277	D	0.41	0.12415	N	1.07	0.39586	T	0.43	0.03297	N	0.052	0.02366	-0.9765	0.35794	T	0.081	0.32090	T	10	0.1060805	0.19639	T	0.011486	0.29167	T	0.088	0.25558	0.397	0.42426	0.207176502487	0.20327	0.04900367529630378	0.04843	0.0233216950399	0.02366	0.204009205103	0.00582	T	5.16E-4	0.00194	T	-0.253739	0.13642	T	-0.602255	0.12622	T	0.502938449382782	0.32737	D	0.70483	0.31518	T	0.12892555	0.30127	0.11809379	0.28508	0.12892555	0.30127	0.11809379	0.28508	-3.839	0.21388	T	.	.	0.096	0.15385	B	.	.	2.102681	0.26757	17.23	0.99468787433388461	0.66207	0.36052	0.25444	N	AEFBI	0.406343	0.47887	N	-0.0291148856449301	0.40540	2.409298	-0.00557001676917808	0.39462	2.340232	0.999715313907442	0.42101	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	-0.358000	0.07692	0.729000	0.21072	0.599000	0.40250	0.000000	0.06391	0.185000	0.23452	0.633000	0.32236	0.1663:0.8337:0.0:0.0	13.517	0.61000	665	0.61472	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	.	.	.	.	.	.	.	.	0.2368	1154.82	35	chr11	6200109	.	C	G	1154.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-6.448;DP=2227;ExcessHet=5.3738;FS=120.687;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.45;SOR=10.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,24:180:99:0|1:6200108_C_G:108,0,6153:6200108	10	0	9	0
chr11	6437619	6437619	C	G	exonic	HPX	.	nonsynonymous SNV	HPX:NM_000613:exon6:c.G524C:p.G175A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0058	0.00599042	0.0019	0.0215	0.0004	0	0	0	0.0011	6.083e-05	0.0018499	286	154602	rs138248087	0.0006	0.0006	0.0007	0.0005	0.0229	0.0006	0.0006	0.0216	0.0211	0.0229	0.0010	0	0	0	0.0010	1.079e-05	0.0012	3.478e-05	0.0060	0.0060	0.0059	0.0061	0.0215	0.0057	0.0056	0.0203	0.0198	0.0215	0	0.0008	0	0	0	0.0068	4.41e-05	0.0028	0.0002	0.056	0.38185	T	0.144	0.40747	T	0.088	0.25022	B	0.008	0.13708	B	0.418357	0.12904	N	0.758847	1	0.08975	N	1.355	0.33814	L	2.01	0.21291	T	0.26	0.04380	N	0.191	0.20925	-1.0399	0.17343	T	0.020	0.08407	T	10	0.004314363	0.00087	T	.	.	.	0.019	0.03383	.	.	0.258283824007	0.25425	0.49236812024250354	0.49157	0.2404587666	0.26586	0.278572142124	0.07294	T	0.165587	0.51149	T	-0.688652	0.00043	T	-0.745057	0.03682	T	0.00124802136733373	0.00012	T	0.756024	0.37907	T	0.06920964	0.15142	0.07337503	0.15937	0.06920964	0.15142	0.07337503	0.15937	-4.777	0.34322	T	.	.	0.138	0.33755	B	.;.	.;.	-0.091540	0.03692	0.750	0.84607490525756601	0.15391	0.06633	0.12650	N	AEFDBI	0.292717	0.40352	N	-0.844285290614716	0.12190	0.5927313	-0.895956324885359	0.12189	0.6255686	0.996915015927855	0.35113	0.554377	0.28877	0	0.624146	0.53433	0	0.602189	0.34648	0	0.836244	0.99985	0	.	.	4.85	0.835	0.18020	0.231000	0.17651	-1.509000	0.05279	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.070000	0.16646	0.0:0.6095:0.0:0.3905	6.963	0.23787	754	0.51307	Hemopexin-like domain;Hemopexin-like 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	0.005035	0.005051	0.010870	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1372.33	34	chr11	6437619	.	C	G	1372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.804;DP=727;ExcessHet=0;FS=0.899;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.37;ReadPosRankSum=0.604;SOR=0.858	GT:AD:DP:GQ:PL	0/1:32,47:79:99:1386,0,832	18	0	1	0
chr11	6546556	6546556	C	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon21:c.C5617A:p.R1873S	.	.	.	.	.	.	.	.	.	.	.	818139	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.139	0.0100174180859	.	0.00259585	0.0004	0.0042	0.0026	0	0	0	0	0	0.000207	32	154602	rs575635539	0.0002	0.0002	0.0002	0.0002	0.0062	0.0002	0.0001	0.0055	0.0052	0.0062	0.0004	0	0	0	0.0011	4.634e-06	0.0004	1.262e-05	0.0017	0.0017	0.0017	0.0018	0.0060	0.0016	0.0015	0.0054	0.0052	0.0060	0	0.0004	0	0	0	0	2.941e-05	0.0024	0.0002	0.321	0.13522	T	0.0	0.92824	D	1.0	0.90584	D	0.98	0.74843	D	0.000885	0.41231	D	0.249826	0.96683	0.38555	D	2.085	0.57729	M	1.77	0.25841	T	-0.29	0.11728	N	0.54	0.56748	-1.0414	0.16890	T	0.104	0.38144	T	10	0.010085642	0.00226	T	0.010017	0.26057	T	0.139	0.37390	.	.	0.44770609447	0.44391	0.45003670393815504	0.44921	0.54139767128	0.51296	0.346514225006	0.17407	T	0.005288	0.04740	T	-0.32806	0.06259	T	-0.241677	0.50636	T	0.0309033203552553	0.02130	T	0.675632	0.28413	T	0.1385388	0.32037	0.09220038	0.21717	0.1385388	0.32037	0.09220038	0.21717	-3.764	0.20268	T	.	.	0.446	0.61993	A	.;.	.;.	3.008343	0.40220	21.1	0.99746910167431146	0.83927	0.86647	0.45972	D	AEFDBI	0.240997	0.36269	N	0.49155588314917	0.66594	4.970554	0.475135452408494	0.66345	4.94023	0.583733499170471	0.21591	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	4.96	4.96	0.65153	2.282000	0.43122	5.966000	0.51911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.831000	0.39176	0.0:0.8238:0.0:0.1762	7.345	0.25833	473	0.77910	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004246	0.005319	0.015957	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1699.33	33	chr11	6546556	.	C	A	1699.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=792;ExcessHet=0;FS=5.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.806;SOR=0.834	GT:AD:DP:GQ:PL	0/1:54,62:116:99:1713,0,1355	18	0	1	0
chr11	6571721	6571721	T	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon43:c.T13997C:p.I4666T	.	426	1064	32	0	0	32	0.0148148	.	.	.	612918	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00242048950287	0.0059	0.00199681	0.0061	0.0018	0.0051	0	0.0017	0.0091	0.0054	0.0019	0.005181	801	154602	rs11604362	0.0062	0.0062	0.0062	0.0062	0.0253	0.0061	0.0061	0.0220	0.0207	0.0016	0.0058	0.0083	0	0.0016	0.0253	0.0070	0.0066	0.0016	0.0046	0.0046	0.0052	0.0040	0.0068	0.0043	0.0042	0.0063	0.0061	0.0016	0.0340	0.0050	0.0072	0	0.0007	0.0308	0.0068	0.0086	0.0010	0.328	0.13219	T	0.217	0.26145	T	0.0	0.02946	B	0.001	0.04355	B	0.286257	0.03865	N	1.500610	1	0.08975	N	1.04	0.26193	L	3.19	0.07353	T	0.85	0.01736	N	0.108	0.09914	-0.9586	0.39442	T	0.005	0.01578	T	10	0.0035536885	0.00064	T	0.00242	0.04757	T	0.021	0.04004	.	.	0.0401082797425	0.02173	0.2379967463452294	0.23713	0.148820726089	0.16780	0.2791274786	0.07370	T	0.004595	0.03998	T	-0.689082	0.00042	T	-0.757749	0.03194	T	6.56141346553341e-05	0.00001	T	0.382862	0.09330	T	0.025150282	0.01421	0.037576307	0.03441	0.025150282	0.01421	0.037576307	0.03440	-1.741	0.02339	T	.	.	0.092	0.13644	B	.;.	.;.	-0.464050	0.01986	0.174	0.63889802075881286	0.07344	0.02995	0.07855	N	AEFDGBHCI	0.017310	0.00445	N	-1.45185825977806	0.02202	0.09697423	-1.37140251439273	0.03560	0.166304	0.999925422565124	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.505578	0.09266	0	0.664235	0.64389	0	.	.	4.75	-0.827	0.10256	-0.708000	0.05138	-0.500000	0.08808	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.061000	0.16044	0.3386:0.1861:0.0:0.4753	3.778	0.08189	425	0.81160	Dynein heavy chain domain;Dynein heavy chain 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	0.023666	0.015152	0.020380	0.064327	0.050000	0.017241	0.009146	0.003788	0.05263	3188.83	128	chr11	6571721	.	T	C	3188.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.945;DP=886;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.908;SOR=0.685	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1577,0,1582	17	0	2	0
chr11	6616033	6616033	G	C	exonic	TPP1	.	nonsynonymous SNV	TPP1:NM_000391:exon9:c.C1117G:p.Q373E	Ceroid lipofuscinosis, neuronal, 2, Autosomal recessive;Spinocerebellar ataxia, autosomal recessive 7, Autosomal recessive	3	1518	1	0	0	1	0.000329272	.	.	YES	141404	not_provided|Neuronal_ceroid_lipofuscinosis_2|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MONDO:MONDO:0008769,MedGen:C1876161,OMIM:204500,Orphanet:168491,Orphanet:228349,Orphanet:79264|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.201	.	0.0088	0.00678914	0.0025	0.0261	0.0013	0	0	0.0002	0	6.056e-05	0.0023156	358	154602	rs112812685	0.0008	0.0008	0.0010	0.0007	0.0274	0.0008	0.0008	0.0259	0.0254	0.0274	0.0019	3.826e-05	0	0	0.0012	8.543e-05	0.0022	4.637e-05	0.0075	0.0075	0.0077	0.0072	0.0258	0.0071	0.0069	0.0245	0.0240	0.0258	0	0.0024	0	0.0002	0	0	0.0002	0.0076	0	0.731	0.03799	T	0.793	0.04155	T	0.012	0.16265	B	0.039	0.23607	B	0.002079	0.37317	N	0.287070	0.997301	0.22713	N	0.84	0.21119	L	-3.16	0.92996	D	-0.62	0.20145	N	0.343	0.40164	-0.4317	0.71011	T	0.301	0.67195	T	10	0.0070130825	0.00160	T	.	.	.	0.201	0.48592	.	.	0.84571844758	0.84423	0.686070898848915	0.68547	0.206544020678	0.23080	0.35550686717	0.18730	T	0.261488	0.63298	T	-0.416057	0.01813	T	-0.350141	0.39189	T	0.00178748379606541	0.00018	T	0.840516	0.52967	T	0.12177822	0.28630	0.049348347	0.07522	0.10444599	0.24691	0.058982152	0.10991	-6.777	0.52388	T	0.1251852374538952	0.12404	0.091	0.13597	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.879955	0.23878	16.19	0.73115098429518366	0.10212	0.63529	0.32118	D	AEFBI	0.182760	0.31009	N	-0.348447875861179	0.27330	1.498554	-0.196630076343217	0.31659	1.793839	0.989071415143852	0.31715	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.56	0.792	0.17769	1.264000	0.32618	2.443000	0.32780	-0.154000	0.11915	0.987000	0.36337	1.000000	0.68203	0.993000	0.69303	0.0746:0.1105:0.3928:0.4221	4.755	0.12454	513	0.74941	Sedolisin domain|Sedolisin domain;.;Sedolisin domain|Sedolisin domain;.;Sedolisin domain|Sedolisin 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	0.005035	0.005051	0.009511	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1282.33	35	chr11	6616033	.	G	C	1282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.798;DP=781;ExcessHet=0;FS=1.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=-0.287;SOR=0.584	GT:AD:DP:GQ:PL	0/1:86,58:144:99:1296,0,2304	18	0	1	0
chr11	6632964	6632964	G	A	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon6:c.C2548T:p.R850C	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	424	1095	3	0	0	3	0.00136799	.	.	.	1187771	not_provided|Inborn_genetic_diseases|DCHS1-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.177	0.0492234256531	0.0003	0.00179712	0.0012	0.0024	8.667e-05	0.0003	0	1.505e-05	0.0011	0.0069	0.0010479	162	154602	rs79559386	0.0005	0.0005	0.0003	0.0007	0.0066	0.0005	0.0005	0.0061	0.0059	0.0027	6.708e-05	0	0	0	0.0010	1.619e-05	0.0007	0.0066	0.0009	0.0010	0.0008	0.0011	0.0079	0.0008	0.0008	0.0059	0.0052	0.0025	0	6.533e-05	0	0.0002	0	0	0	0.0009	0.0079	0.034	0.44029	D	0.044	0.49663	D	0.002	0.09854	B	0.001	0.04355	B	0.004185	0.34013	N	0.135740	0.991154	0.41320	D	2.825	0.82220	M	0.56	0.54540	T	-3.09	0.63438	D	0.294	0.33250	-0.6439	0.62979	T	0.237	0.60487	T	10	0.011422902	0.00250	T	0.049223	0.63719	D	0.177	0.44549	.	.	0.391520894214	0.38767	0.40940102527554945	0.40856	0.392951953292	0.40477	0.403489172459	0.25554	T	0.370323	0.73488	T	-0.474293	0.00799	T	-0.450759	0.27613	T	0.0661522035845533	0.08100	T	0.80392	0.45144	T	0.2043984	0.42548	0.15819551	0.36955	0.2043984	0.42548	0.15819551	0.36954	-9.492	0.70809	D	.	.	0.309	0.53671	B	.	.	3.805950	0.54866	23.5	0.94475344268276951	0.24927	0.96566	0.69781	D	AEFBI	0.406362	0.47888	N	-0.286009887344789	0.29688	1.648595	-0.270336427048827	0.29081	1.626442	0.901071023559853	0.26092	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.71	2.85	0.32333	2.398000	0.44140	8.558000	0.77555	-0.127000	0.13314	1.000000	0.71638	1.000000	0.68203	0.611000	0.31665	0.1608:0.0:0.8392:0.0	10.299	0.42823	231	0.90996	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2298.33	49	chr11	6632964	.	G	A	2298.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.589;DP=921;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.195;SOR=0.693	GT:AD:DP:GQ:PL	0/1:93,93:186:99:2312,0,2396	18	0	1	0
chr11	6768261	6768261	C	T	exonic	OR2AG2	.	nonsynonymous SNV	OR2AG2:NM_001004490:exon1:c.G697A:p.G233R	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00144634529571	0.0016	0.00159744	0.0016	0.0010	0.0014	0	0	0.0023	0.0033	0.0005	0.0016041	248	154602	rs143018775	0.0022	0.0022	0.0022	0.0022	0.0081	0.0021	0.0021	0.0063	0.0056	0.0004	0.0017	0.0015	0	0.0001	0.0081	0.0025	0.0026	0.0005	0.0019	0.0019	0.0020	0.0018	0.0057	0.0017	0.0017	0.0047	0.0044	0.0005	0	0.0057	0.0023	0	0	0.0204	0.0023	0.0043	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000084	0.51296	D	0.000000	1	0.08975	N	2.66	0.77858	M	8.25	0.00271	T	-7.04	0.93833	D	0.307	0.34659	-1.0040	0.28755	T	0.002	0.00526	T	10	0.010412455	0.00232	T	0.001446	0.02164	T	0.068	0.19811	0.584	0.71118	0.45553875121	0.45177	0.2119157015489632	0.21107	0.05690108089	0.06292	0.215650826693	0.01074	T	0.008477	0.07783	T	-0.530015	0.00384	T	-0.539964	0.18300	T	0.0602325163226866	0.07206	T	0.891311	0.62583	D	0.87381077	0.89166	0.76935583	0.86381	0.87381077	0.89167	0.76935583	0.86382	-9.395	0.70204	D	.	.	0.362	0.60630	A	.;.;.	.;.;.	3.953177	0.57923	23.9	0.9985118727065555	0.93013	0.08069	0.14042	N	AEFGBI	0.070082	0.13899	N	0.150399072860873	0.48831	3.090569	-0.0673493762495646	0.36749	2.142636	2.88814230646248E-4	0.06355	0.516011	0.20929	0	0.59043	0.45803	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.47	3.55	0.39770	-0.022000	0.12424	0.424000	0.18252	0.596000	0.33519	0.000000	0.06391	0.029000	0.21193	0.003000	0.05239	0.0:0.9061:0.0:0.0939	10.793	0.45648	496	0.76301	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2740.33	229	chr11	6768261	.	C	T	2740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=2121;ExcessHet=0;FS=0.502;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=1.17;SOR=0.65	GT:AD:DP:GQ:PL	0/1:113,101:214:99:2754,0,3145	18	0	1	0
chr11	8126754	8126754	C	T	exonic	RIC3	.	nonsynonymous SNV	RIC3:NM_001206671:exon5:c.G575A:p.R192Q,RIC3:NM_024557:exon5:c.G572A:p.R191Q,RIC3:NM_001346690:exon6:c.G89A:p.R30Q,RIC3:NM_001346692:exon6:c.G425A:p.R142Q,RIC3:NM_001346693:exon6:c.G512A:p.R171Q,RIC3:NM_001346694:exon6:c.G428A:p.R143Q	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	.	0.0055	0.00519169	0.0015	0.0163	0.0007	0	0	4.495e-05	0.0011	0	0.0014101	218	154602	rs144870134	0.0004	0.0004	0.0005	0.0004	0.0147	0.0004	0.0004	0.0136	0.0132	0.0147	0.0009	0	0	0	0.0005	3.597e-05	0.0008	5.797e-05	0.0048	0.0048	0.0049	0.0047	0.0170	0.0045	0.0044	0.0160	0.0156	0.0170	0	0.0007	0	0	0	0	8.822e-05	0.0047	0.0004	0.086	0.32769	T	0.136	0.34009	T	0.266	0.31648	B	0.027	0.21085	B	0.048062	0.23286	N	0.357928	0.855423	0.81001	D	1.965	0.53209	M	1.37	0.36512	T	-0.47	0.31778	N	0.282	0.33250	-1.0203	0.23616	T	0.035	0.14987	T	10	0.0065300167	0.00148	T	.	.	.	0.046	0.12618	.	.	0.591584461224	0.58835	0.21525698141183014	0.21441	0.0840217456617	0.09476	0.381259441376	0.22435	T	0.017486	0.14257	T	-0.534664	0.00360	T	-0.527158	0.19571	T	0.0175412668354215	0.00488	T	0.889911	0.63970	D	0.1015298	0.23983	0.08191014	0.18652	0.1015298	0.23983	0.08191014	0.18652	-5.779	0.45324	T	.	.	0.09	0.23113	B	.;.;.	.;.;.	3.299827	0.45293	22.1	0.99853944512690063	0.93279	0.74004	0.36197	D	AEFBI	0.177573	0.30482	N	0.0391164557061656	0.43643	2.653238	0.142148788769828	0.46729	2.914066	2.07281780614803E-4	0.05948	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.66	3.78	0.42629	2.102000	0.41421	1.790000	0.28791	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.7857:0.0:0.2143	9.387	0.37515	757	0.50970	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2157.33	33	chr11	8126754	.	C	T	2157.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.409;DP=820;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=0.197;SOR=0.71	GT:AD:DP:GQ:PL	0/1:103,87:190:99:2171,0,2653	18	0	1	0
chr11	8126885	8126885	C	G	exonic	RIC3	.	nonsynonymous SNV	RIC3:NM_001346693:exon6:c.G381C:p.Q127H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	0.00519169	0.0020	0.0210	0.0008	0	0	2.149e-05	0.0014	0	0.0013583	210	154602	rs140788261	0.0004	0.0004	0.0005	0.0004	0.0147	0.0004	0.0004	0.0136	0.0131	0.0147	0.0009	0	0	0	0.0005	1.035e-05	0.0008	7.125e-05	0.0048	0.0048	0.0050	0.0047	0.0171	0.0046	0.0044	0.0161	0.0156	0.0171	0	0.0007	0	0	0	0	7.351e-05	0.0047	0.0004	0.161	0.23631	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	1.4	0.33630	T	-0.3	0.11913	N	.	.	-1.0635	0.10902	T	0.047	0.20275	T	7	0.0043251514	0.00087	T	.	.	.	0.037	0.09474	0.167	0.07186	0.371718192555	0.36778	.	.	.	.	.	.	.	.	.	.	-0.637348	0.00086	T	-0.674657	0.07313	T	0.00708741225382092	0.00081	T	0.516848	0.16688	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.34094	B	.	.	0.764911	0.11347	7.965	0.95857293010056388	0.28008	0.23193	0.21996	N	AEFGBI	.	.	.	-0.463703479249093	0.23277	1.248884	-0.544595362626803	0.20948	1.131032	3.36591149583597E-4	0.06583	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.02	3.57	0.40014	0.439000	0.21293	-0.800000	0.07378	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.299000	0.24476	0.1628:0.6919:0.0:0.1453	5.918	0.18302	757	0.50970	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1165.33	33	chr11	8126885	.	C	G	1165.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.65;DP=738;ExcessHet=0;FS=2.764;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=1.4;SOR=0.988	GT:AD:DP:GQ:PL	0/1:68,44:112:99:1179,0,1896	18	0	1	0
chr11	9434945	9434945	C	G	exonic	IPO7	.	nonsynonymous SNV	IPO7:NM_006391:exon19:c.C2086G:p.L696V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00890553581119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.912	0.02355	T	0.551	0.09393	T	0.98	0.59353	D	0.744	0.55835	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.305	0.32671	L	-0.38	0.69027	T	-0.45	0.14782	N	0.537	0.56489	-0.7094	0.59982	T	0.275	0.64691	T	10	0.4405745	0.58074	T	0.008906	0.23487	T	0.267	0.58126	0.602	0.73346	0.519533312159	0.51597	0.2428668726831784	0.24200	0.765090174014	0.64454	0.765576481819	0.76761	T	0.176901	0.52701	T	-0.0172598	0.49243	T	-0.262569	0.48566	T	0.788419961929321	0.45586	D	0.953205	0.82144	D	0.13758926	0.31852	0.11843174	0.28588	0.13758926	0.31851	0.11843174	0.28588	-8.163	0.62175	D	.	.	0.202	0.42650	B	.	.	3.700081	0.52769	23.3	0.99396190414402674	0.62565	0.97493	0.75105	D	AEFBI	0.794525	0.72221	D	0.304114767905728	0.56361	3.800538	0.344747646619535	0.58193	3.988322	0.985300711556583	0.30864	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.63	4.72	0.59248	4.867000	0.62709	3.960000	0.40741	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9289:0.0:0.0711	14.424	0.66772	379	0.83778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	35.33	33	chr11	9434945	.	C	G	35.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.937;DP=865;ExcessHet=0;FS=120.451;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=-0.118;SOR=7.428	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,40:211:49:0|1:9434944_C_G:49,0,5674:9434944	18	0	1	0
chr11	10559867	10559867	G	A	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731T:p.A244V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0316624712336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1011426411	1.382e-05	1.372e-05	1.79e-05	9.716e-06	0.0009	9.03e-06	7.34e-06	0.0003	0.0002	3.015e-05	0	0	0	0	0.0009	1.184e-05	0	1.164e-05	1.322e-05	1.316e-05	1.291e-05	1.354e-05	1.473e-05	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.473e-05	0	0	0.116	0.91255	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999982	0.54805	D	1.995	0.54099	M	2.74	0.57100	T	-1.72	0.74051	N	0.743	0.83371	-0.4509	0.70370	T	0.344	0.70940	T	10	0.7525157	0.75742	D	0.031662	0.53686	D	0.222	0.51872	0.383	0.40134	0.752590173691	0.75035	0.5316431793870309	0.53089	0.438298358417	0.43869	0.586091697216	0.50943	T	0.380784	0.74325	T	0.128026	0.67169	D	-0.0538753	0.66757	D	0.953589856624603	0.64061	D	0.849515	0.57326	T	0.22611228	0.45285	0.23588851	0.48845	0.22611228	0.45285	0.23588851	0.48844	-4.267	0.27712	T	.	.	0.576	0.75037	P	.;.	.;.	4.864352	0.79626	27.1	0.99869083234187406	0.94726	0.94107	0.60133	D	AEFI	0.863055	0.78149	D	0.767749876461228	0.84054	8.182144	0.746411232723111	0.85890	8.717017	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	254.36	33	chr11	10559867	.	G	A	254.36	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-3.18;DP=1302;ExcessHet=0.119;FS=423.277;InbreedingCoeff=-0.1692;MLEAC=3;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=1.24;SOR=9.472	GT:AD:DP:GQ:PL	0/1:65,36:101:99:135,0,1056	10	0	2	7
chr11	12294842	12294842	A	0	exonic	MICALCL	.	.	.	.	612	397	355	151	7	664	0.452791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	21836.4	77	chr11	12294842	.	A	*	21836.4	.	AC=2;AF=0.059;AN=34;BaseQRankSum=2.54;DP=1679;ExcessHet=0.0541;FS=3.862;InbreedingCoeff=0.2629;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=22.35;ReadPosRankSum=1.31;SOR=0.461	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,7:78:55:1|0:12294839_CCTA_C:3517,2438,2675:12294839	15	0	2	2
chr11	18707044	18707046	GAA	-	exonic	IGSF22	.	nonframeshift deletion	IGSF22:NM_173588:exon21:c.3448_3450del:p.F1150del	.	427	1082	12	1	0	14	0.00642792	.	.	.	2816511	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0035	0.000599042	0.0023	0	0.0025	0	0	0.0035	0.0053	0.0018	0.0005757	89	154602	rs543347161	0.0026	0.0025	0.0026	0.0026	0.0056	0.0025	0.0025	0.0041	0.0036	0.0004	0.0017	0.0069	0	0.0004	0.0056	0.0028	0.0030	0.0017	0.0018	0.0018	0.0019	0.0018	0.0028	0.0017	0.0016	0.0025	0.0024	0.0004	0	0.0016	0.0066	0.0002	0.0005	0.0034	0.0028	0.0033	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001266	0.000000	0.000000	0.000000	0.000000	0.000000	0.006410	0.000000	0.05263	4621.77	33	chr11	18707043	.	TGAA	T	4621.77	.	AC=2;AF=0.053;AN=38;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.58;SOR=0.921	GT:AD:DP:GQ:PL	1/1:0,105:105:99:4649,316,0	18	1	0	0
chr11	22625254	22625254	G	A	exonic	FANCF	.	nonsynonymous SNV	FANCF:NM_022725:exon1:c.C557T:p.A186V	Fanconi anemia, complementation group F	0	1443	79	0	0	79	0.0266442	.	.	.	138088	not_specified|Fanconi_anemia_complementation_group_F|Malignant_tumor_of_breast|Fanconi_anemia|not_provided|Hereditary_cancer-predisposing_syndrome|Ovarian_cancer	MedGen:CN169374|MONDO:MONDO:0011325,MedGen:C3469526,OMIM:603467,Orphanet:84|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0057	0.00519169	0.0091	0.0011	0.0056	0.0002	0.0051	0.0103	0.0189	0.0175	0.0087256	1349	154602	rs113910234	0.0088	0.0088	0.0083	0.0092	0.0201	0.0086	0.0086	0.0171	0.0160	0.0010	0.0049	0.0038	2.519e-05	0.0056	0.0201	0.0091	0.0086	0.0167	0.0062	0.0062	0.0066	0.0059	0.0153	0.0059	0.0058	0.0125	0.0115	0.0015	0	0.0048	0.0055	0.0002	0.0039	0.0238	0.0097	0.0071	0.0153	0.446	0.09101	T	0.188	0.28669	T	0.04	0.21238	B	0.062	0.26930	B	0.033578	0.01773	N	2.075460	1	0.08975	N	0.345	0.11182	N	1.5	0.31205	T	-1.19	0.30346	N	0.078	0.05287	-1.0265	0.21593	T	0.037	0.15856	T	10	0.0028169155	0.00045	T	.	.	.	0.041	0.10877	.	.	0.162503812791	0.15892	0.12238860906299871	0.12165	0.248819774216	0.27451	0.349070757627	0.17785	T	0.071258	0.34164	T	-0.650317	0.00072	T	-0.693286	0.06201	T	0.00244706665336393	0.00025	T	0.450155	0.12692	T	0.047262046	0.08048	0.051013313	0.08125	0.042552084	0.06473	0.051013313	0.08124	-4.121	0.25599	T	0.22404178093100105	0.30252	0.098	0.16231	B	.	.	0.895746	0.12696	9.216	0.94939303724773183	0.25832	0.43237	0.27054	N	ALL	0.084762	0.17181	N	-1.31958861353704	0.03451	0.1541903	-1.28871962557727	0.04582	0.2164664	0.999999999986908	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	4.87	1.82	0.24209	0.252000	0.18046	0.114000	0.14823	-0.926000	0.02173	0.000000	0.06391	0.002000	0.18203	0.002000	0.04165	0.0:0.503:0.4183:0.0787	9.497	0.38162	899	0.25060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.017120	0.000000	0.020380	0.020468	0.000000	0.008621	0.024390	0.022727	0.05263	6453.83	33	chr11	22625254	.	G	A	6453.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.51;DP=1068;ExcessHet=0.119;FS=3.221;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.807;SOR=0.938	GT:AD:DP:GQ:PL	0/1:97,131:228:99:3559,0,2648	17	0	2	0
chr11	34108323	34108323	-	AAA	exonic	NAT10	.	nonframeshift insertion	NAT10:NM_024662:exon2:c.98_99insAAA:p.K34_D35insK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00219649	0.0004	0.0040	8.639e-05	0	0	0	0	0	0.0003558	55	154602	rs139367378	0.0001	0.0001	0.0001	0.0001	0.0044	0.0001	0.0001	0.0038	0.0036	0.0044	0.0001	0	0	0	0.0005	1.8e-06	0.0003	2.319e-05	0.0011	0.0011	0.0012	0.0009	0.0037	0.0009	0.0009	0.0032	0.0030	0.0037	0	0.0006	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.001359	0.011696	0.000000	0.000000	0.000000	0.000000	0.02632	1254.29	34	chr11	34108323	.	G	GAAA	1254.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.786;DP=716;ExcessHet=0;FS=0.815;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=1.63;SOR=0.59	GT:AD:DP:GQ:PL	0/1:53,34:87:99:1268,0,2103	18	0	1	0
chr11	35619747	35619747	A	G	exonic	FJX1	.	nonsynonymous SNV	FJX1:NM_014344:exon1:c.A1111G:p.T371A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	.	0.0012	0.00279553	0.0004	0.0057	0.0014	0	0	0	0	0	0.0003752	58	154602	rs202089278	0.0002	0.0002	0.0003	0.0002	0.0090	0.0002	0.0002	0.0082	0.0078	0.0090	0.0003	0	0	0	0	9.199e-06	0.0005	2.478e-05	0.0025	0.0024	0.0026	0.0023	0.0087	0.0022	0.0022	0.0080	0.0077	0.0087	0	0.0007	0	0	0	0	0	0.0005	0.0002	0.007	0.59928	D	0.021	0.58089	D	0.996	0.68779	D	0.936	0.67150	D	.	.	.	.	0.954037	0.37858	D	1.79	0.46772	L	-1.52	0.81478	D	-4.41	0.77391	D	0.733	0.73375	0.102	0.84204	D	0.429	0.77134	T	9	0.007925361	0.00180	T	.	.	.	0.654	0.86986	.	.	0.231005064126	0.22704	0.8341295286425536	0.83371	.	.	0.80544501543	0.82793	D	0.690789	0.91007	D	-0.101261	0.36216	T	0.0870373	0.76047	D	0.0796741839000353	0.09944	T	0.675032	0.28342	T	0.3001229	0.52915	0.23552375	0.48799	0.3001229	0.52915	0.23552375	0.48798	-8.885	0.66953	D	.	.	0.661	0.71354	P	.	.	4.841730	0.79050	27.0	0.99284816343678317	0.58043	0.41844	0.26747	N	ALL	0.493105	0.52946	N	0.660381602451078	0.77043	6.599184	0.628559744204323	0.77020	6.600151	0.999999999999972	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	5.21	5.21	0.72005	8.051000	0.89228	10.831000	0.83876	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.9184:0.0:0.0816:0.0	9.336	0.37211	936	0.14734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1199.33	36	chr11	35619747	.	A	G	1199.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.47;SOR=0.669	GT:AD:DP:GQ:PL	0/1:69,47:116:99:1213,0,1896	18	0	1	0
chr11	36592939	36592939	C	G	exonic	RAG2	.	nonsynonymous SNV	RAG2:NM_000536:exon2:c.G1230C:p.E410D,RAG2:NM_001243785:exon3:c.G1230C:p.E410D,RAG2:NM_001243786:exon3:c.G1230C:p.E410D	Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.184111845529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.989	0.62824	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.997921	0.44325	D	3.045	0.86684	M	-4.39	0.97394	D	-1.34	0.33401	N	0.61	0.62696	0.981	0.96875	D	0.932	0.97744	D	10	0.74751085	0.75395	D	0.184112	0.85729	D	0.724	0.90280	0.655	0.79276	0.949606292796	0.94907	0.5783541702396763	0.57764	0.416349650705	0.42283	0.691780388355	0.65962	T	0.535211	0.83987	D	0.262356	0.79746	D	0.13908	0.79483	D	0.982266187667847	0.74389	D	0.935806	0.75965	D	0.4970505	0.66921	0.42633614	0.66414	0.4970505	0.66922	0.42633614	0.66414	-3.527	0.16812	T	0.4996836790850691	0.57511	0.344	0.59611	A	.;.	.;.	2.759110	0.36189	20.2	0.99754016305850435	0.84460	0.84979	0.44077	D	AEFBI	0.598256	0.59172	D	0.347464662238875	0.58605	4.033851	0.215856993075376	0.50725	3.261712	0.99959847292894	0.40745	0.497415	0.19182	0	0.59043	0.45803	0	0.408882	0.06424	0	0.530356	0.10902	0	.	.	5.23	-0.634	0.10937	0.385000	0.20413	-0.476000	0.08948	0.599000	0.40250	0.997000	0.40164	0.036000	0.21445	1.000000	0.97212	0.0:0.5159:0.0:0.4841	10.518	0.44088	374	0.84073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1538	162.23	33	chr11	36592939	.	C	G	162.23	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-4.758;DP=2093;ExcessHet=0.7564;FS=197.593;InbreedingCoeff=-0.2301;MLEAC=5;MLEAF=0.192;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.28;SOR=10.175	GT:AD:DP:GQ:PL	0/1:118,21:152:30:30,0,2872	9	0	4	6
chr11	46703229	46703229	C	T	exonic	ZNF408	.	nonsynonymous SNV	ZNF408:NM_001184751:exon4:c.C614T:p.A205V,ZNF408:NM_024741:exon4:c.C638T:p.A213V	Retinitis pigmentosa 72, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00376630896946	.	.	9.405e-06	0	0	0	0	1.661e-05	0	0	6.5e-06	1	154602	rs771510716	4.792e-06	4.788e-06	1.362e-06	8.259e-06	0.0003	1.99e-06	1.28e-06	6.101e-05	2.525e-05	8.963e-05	0	0	0	0	0.0003	8.996e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.17526	T	0.074	0.42976	T	0.07	0.23866	B	0.021	0.19346	B	0.673243	0.06048	N	1.212850	1	0.08975	N	2.075	0.57047	M	2.89	0.10196	T	0.03	0.06612	N	0.205	0.22742	-0.9884	0.33002	T	0.023	0.09923	T	10	0.06943789	0.09962	T	0.003766	0.08744	T	0.101	0.28911	0.463	0.53242	0.0297737177859	0.01360	0.09114680024643541	0.09047	0.229182428038	0.25482	0.279387921095	0.07407	T	0.013633	0.11757	T	-0.24787	0.14362	T	-0.593824	0.13337	T	0.28911167383194	0.24553	T	0.735226	0.35154	T	0.029299948	0.02403	0.04838817	0.07176	0.029299948	0.02403	0.04838817	0.07175	-4.179	0.26447	T	.	.	0.119	0.24396	B	.	.	1.709866	0.21777	15.34	0.99504943073246344	0.68264	0.18949	0.20467	N	AEFDBI	0.065889	0.12874	N	-0.572772942570749	0.19776	1.037613	-0.500103690748259	0.22151	1.201753	0.999998568158768	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.88	4.96	0.65153	1.437000	0.34601	-0.348000	0.09765	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.762000	0.36218	0.1646:0.7537:0.0:0.0817	7.669	0.27616	26	0.98304	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	412.33	33	chr11	46703229	.	C	T	412.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.27;DP=627;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.237;SOR=0.567	GT:AD:DP:GQ:PL	0/1:23,18:41:99:426,0,576	18	0	1	0
chr11	47237933	47237933	G	A	exonic	DDB2	.	nonsynonymous SNV	DDB2:NM_001300734:exon4:c.G553A:p.V185M,DDB2:NM_000107:exon8:c.G1120A:p.V374M	Xeroderma pigmentosum, group E, DDB-negative subtype, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1684584	Xeroderma_pigmentosum	MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.0294067871312	0.0003	0.000599042	8.237e-05	0.0010	0	0	0	0	0	0	8.41e-05	13	154602	rs148299549	4.583e-05	4.583e-05	5.173e-05	3.988e-05	0.0010	3.661e-05	3.347e-05	0.0007	0.0007	0.0010	8.944e-05	0	0	0	0.0002	8.093e-06	0.0003	1.159e-05	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0007	0.0006	0.0010	0	6.548e-05	0	0	0	0	0	0	0.0002	0.13	0.32141	T	0.127	0.37872	T	0.601	0.49848	P	0.054	0.41327	B	0.080468	0.20922	N	0.551776	1	0.81001	D	1.735	0.44892	L	-0.5	0.70480	T	-0.92	0.24676	N	0.29	0.51851	-0.8160	0.54183	T	0.170	0.51036	T	10	0.03231749	0.01381	T	0.029407	0.51922	D	0.045	0.12272	.	.	0.808182242251	0.80638	0.5334863084106345	0.53273	0.450847767521	0.44848	0.500459432602	0.38893	T	0.204586	0.56339	T	-0.381962	0.03028	T	-0.377787	0.35981	T	0.0159116566759486	0.00376	T	0.882612	0.62120	D	0.08056569	0.18467	0.055125155	0.09611	0.08056569	0.18467	0.055125155	0.09610	-4.982	0.39993	T	.	.	0.157	0.45786	B	.;.;.	.;.;.	2.001268	0.25425	16.76	0.98231180277338148	0.39396	0.27164	0.23200	N	AEFGBCI	0.093038	0.18830	N	-0.182452684818295	0.33867	1.926252	-0.196914154084052	0.31649	1.793146	0.998895903617003	0.37915	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.08	0.352	0.15287	0.209000	0.17231	0.553000	0.19438	0.676000	0.76740	0.578000	0.27570	0.878000	0.27671	0.972000	0.54974	0.3528:0.0:0.5442:0.1031	8.352	0.31471	33	0.98110	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2969.33	33	chr11	47237933	.	G	A	2969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=834;ExcessHet=0;FS=4.837;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0.033;SOR=0.449	GT:AD:DP:GQ:PL	0/1:95,112:207:99:2983,0,2183	18	0	1	0
chr11	47587769	47587769	C	G	exonic	FAM180B	.	nonsynonymous SNV	FAM180B:NM_001164379:exon2:c.C104G:p.T35S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00386068031807	0.0002	0.00139776	0.0003	0.0023	0	0	0	0	0	0	8.41e-05	13	154602	rs141304714	8.978e-05	8.482e-05	9.575e-05	8.365e-05	0.0029	7.629e-05	7.193e-05	0.0024	0.0022	0.0029	0.0001	0	0	0	0.0002	3.715e-06	0.0004	1.272e-05	0.0006	0.0006	0.0006	0.0006	0.0021	0.0005	0.0005	0.0017	0.0016	0.0021	0	0.0003	0	0	0	0	0	0	0.0002	0.142	0.25457	T	0.132	0.34477	T	.	.	.	.	.	.	0.923852	0.07493	N	1.048350	1	0.08975	N	.	.	.	1.48	0.31731	T	0.57	0.02638	N	0.252	0.28498	-1.0249	0.22116	T	0.028	0.11795	T	10	0.0046453476	0.00097	T	0.003861	0.09055	T	0.063	0.18251	.	.	0.0297737177859	0.01360	.	.	.	.	0.364943683147	0.20103	T	0.018993	0.15211	T	-0.521541	0.00431	T	-0.529198	0.19367	T	0.023229335050109	0.01051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.593589	0.20381	14.72	0.96784611229637807	0.31087	0.21774	0.21519	N	ALL	0.143714	0.26649	N	-0.482374296605139	0.22658	1.211435	-0.380283072639077	0.25586	1.407929	0.999999089697438	0.74766	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.11	4.17	0.48303	1.202000	0.31878	2.098000	0.30587	0.599000	0.40250	0.401000	0.26178	0.501000	0.25205	0.973000	0.55318	0.2118:0.6919:0.0:0.0963	6.149	0.19519	10	0.99061	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	610.33	33	chr11	47587769	.	C	G	610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.471;DP=721;ExcessHet=0;FS=4.364;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.78;ReadPosRankSum=-2.617;SOR=0.711	GT:AD:DP:GQ:PL	0/1:61,29:90:99:624,0,1681	18	0	1	0
chr11	49952672	49952672	C	A	exonic	OR4C13	.	nonsynonymous SNV	OR4C13:NM_001001955:exon1:c.C250A:p.L84I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00101307032507	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781828575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.092	0.39954	T	0.005	0.12996	B	0.039	0.23607	B	0.091152	0.20340	N	0.356468	1	0.08975	N	2.475	0.71894	M	5.59	0.00834	T	-1.45	0.35597	N	0.093	0.07262	-0.9389	0.42790	T	0.004	0.01400	T	9	0.070384234	0.10231	T	0.001013	0.01096	T	0.018	0.03083	0.421	0.46365	0.178374595973	0.17440	0.014486949231952225	0.01405	9.22648080292E-4	0.00079	0.467525362968	0.34341	T	0.005457	0.04911	T	-0.287597	0.09879	T	-0.650889	0.08893	T	0.102099448442459	0.12587	T	0.771423	0.40183	T	0.06897675	0.15073	0.10497502	0.25225	0.06897675	0.15073	0.10497502	0.25225	-6.324	0.48912	T	.	.	0.078	0.06710	B	.	.	2.343346	0.30033	18.31	0.93827749863634891	0.23813	0.08067	0.14040	N	AEFI	0.054020	0.09785	N	-0.84955933833849	0.12060	0.5856209	-0.931850112655923	0.11344	0.5773741	4.92769673023654E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.95	2.02	0.25641	-0.229000	0.09106	.	.	-0.760000	0.03515	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7099:0.0:0.2901	4.987	0.13540	224	0.91330	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2703.33	35	chr11	49952672	.	C	A	2703.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.437;DP=958;ExcessHet=0;FS=1.096;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=1.02;QD=13.65;ReadPosRankSum=-0.326;SOR=0.613	GT:AD:DP:GQ:PL	0/1:98,100:198:99:2717,0,2756	18	0	1	0
chr11	49981809	49981809	C	G	exonic	OR4C12	.	nonsynonymous SNV	OR4C12:NM_001005270:exon1:c.G693C:p.R231S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00101041932848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	7.527e-06	1.367e-06	1.382e-06	1.807e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.807e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.319	0.32965	B	0.513	0.47989	P	0.000281	0.46590	U	0.000000	0.999892	0.19781	N	3.385	0.91502	M	8.15	0.00286	T	-5.47	0.85617	D	0.443	0.48134	-1.0201	0.23682	T	0.001	0.00467	T	10	0.2346729	0.40512	T	0.00101	0.01096	T	0.082	0.23913	0.546	0.66015	0.208816687407	0.20498	0.25538346230412046	0.25452	0.0143582820659	0.01365	0.280902445316	0.07618	T	0.00991	0.08988	T	-0.164013	0.26145	T	-0.47337	0.25154	T	0.979287505149841	0.72753	D	.	.	.	0.73349935	0.79921	0.5844385	0.75904	0.73349935	0.79923	0.5844385	0.75904	-7.463	0.57350	T	.	.	0.227	0.45966	B	.	.	2.022533	0.25704	16.86	0.99082414752547343	0.52002	0.03228	0.08240	N	AEFI	0.047257	0.07937	N	-0.277187101321075	0.30032	1.670798	-0.409429265658249	0.24720	1.355288	1.23947310401179E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.98	1.05	0.19280	-1.007000	0.03777	.	.	0.260000	0.18395	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.0:0.574:0.0:0.426	4.568	0.11590	224	0.91330	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	.	.	.	.	.	.	.	.	0.08824	103.77	102	chr11	49981809	.	C	G	103.77	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-2.788;DP=1506;ExcessHet=0.3672;FS=171.973;InbreedingCoeff=-0.1206;MLEAC=3;MLEAF=0.088;MQ=59.99;MQRankSum=0;QD=0.38;ReadPosRankSum=2.6;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:77,13:93:23:.:.:23,0,2868:.	14	0	3	2
chr11	49982483	49982483	C	T	exonic	OR4C12	.	nonsynonymous SNV	OR4C12:NM_001005270:exon1:c.G19A:p.V7M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00223370222462	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs112929537	2.758e-06	3.421e-06	2.746e-06	2.771e-06	6.025e-05	6.5e-07	4.4e-07	9.98e-06	3.73e-06	6.025e-05	0	0	0	0	0	0	3.335e-05	0	6.568e-06	6.562e-06	0	1.343e-05	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	0.017	0.51248	D	0.034	0.52727	D	0.883	0.48537	P	0.573	0.49966	P	0.201351	0.16592	U	0.425883	0.643916	0.30592	N	2.96	0.85114	M	5.57	0.00853	T	-2.63	0.56466	D	0.179	0.19325	-1.1281	0.01875	T	0.009	0.03448	T	10	0.22046617	0.38744	T	0.002234	0.04233	T	0.097	0.27909	0.626	0.76141	0.203808441222	0.19973	0.11833606904113636	0.11760	0.0126781612516	0.01211	0.535866260529	0.43862	T	0.04352	0.26528	T	-0.149638	0.28367	T	-0.452721	0.27396	T	0.975770115852356	0.71078	D	.	.	.	0.20054024	0.42033	0.25887722	0.51627	0.20054024	0.42032	0.25887722	0.51626	-6.72	0.51961	T	.	.	0.131	0.28116	B	.	.	2.489507	0.32114	18.95	0.99741584485727564	0.83555	0.10527	0.16009	N	AEFI	0.104701	0.20942	N	0.111302736477227	0.46989	2.931062	-0.0195110980102624	0.38834	2.293703	0.0337064751386126	0.14118	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.31	3.31	0.37025	1.142000	0.31152	.	.	0.250000	0.18327	0.407000	0.26226	0.000000	0.08366	0.030000	0.13115	0.0:1.0:0.0:0.0	12.618	0.55944	224	0.91330	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	980.33	37	chr11	49982483	.	C	T	980.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=765;ExcessHet=0;FS=7.266;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-1.001;SOR=1.7	GT:AD:DP:GQ:PL	0/1:36,35:71:99:994,0,848	18	0	1	0
chr11	50032939	50032939	G	A	exonic	OR4C45	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252683884	0.0004	0.0003	0.0004	0.0004	0.0179	0.0004	0.0004	0.0164	0.0158	0.0179	0.0004	0	8.102e-05	0	0	1.196e-06	0.0008	4.469e-05	0.0037	0.0038	0.0037	0.0038	0.0133	0.0035	0.0034	0.0124	0.0120	0.0133	0	0.0009	0	0	0	0	0	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1865.33	40	chr11	50032939	.	G	A	1865.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.875;DP=1183;ExcessHet=0;FS=2.463;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.84;MQRankSum=-0.771;QD=15.54;ReadPosRankSum=-0.383;SOR=0.491	GT:AD:DP:GQ:PL	0/1:46,74:120:99:1879,0,1160	18	0	1	0
chr11	55343560	55343571	CTATGTGGCTAT	-	exonic	OR4A16	.	nonframeshift deletion	OR4A16:NM_001005274:exon1:c.360_371del:p.Y121_I124del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374379880	2.737e-06	2.736e-06	2.723e-06	2.75e-06	5.976e-05	6.4e-07	4.3e-07	9.9e-06	3.7e-06	5.976e-05	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4519.29	275	chr11	55343559	.	GCTATGTGGCTAT	G	4519.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=1867;ExcessHet=0;FS=2.139;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.22;ReadPosRankSum=0.673;SOR=0.617	GT:AD:DP:GQ:PL	0/1:130,118:248:99:4533,0,5014	18	0	1	0
chr11	55343569	55343569	T	0	exonic	OR4A16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5642.02	275	chr11	55343569	.	T	*	5642.02	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.86;DP=1884;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=59.88;MQRankSum=-4.038;QD=6.05;ReadPosRankSum=1.15;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:130,118:248:99:.:.:4533,0,5014:.	18	0	1	0
chr11	55651541	55651541	T	A	exonic	OR4S2	.	nonsynonymous SNV	OR4S2:NM_001004059:exon1:c.T638A:p.L213Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	0.0061	0.00479233	0.0017	0.0172	0.0004	0	0	3.237e-05	0	6.483e-05	0.0014489	224	154602	rs78077484	0.0006	0.0005	0.0006	0.0005	0.0197	0.0005	0.0005	0.0184	0.0179	0.0197	0.0007	0	5.788e-05	0	0.0014	4.832e-06	0.0011	7.437e-05	0.0049	0.0049	0.0050	0.0047	0.0164	0.0046	0.0044	0.0153	0.0149	0.0164	0	0.0012	0	0	0	0	0	0.0022	0	0.0	0.91255	D	0.001	0.83351	D	0.953	0.54283	P	0.863	0.61398	P	0.013049	0.28968	N	0.161095	0.999999	0.08975	N	4.185	0.97748	H	8.34	0.00254	T	-4.08	0.74742	D	0.377	0.41853	-1.0576	0.12362	T	0.002	0.00585	T	10	0.004522443	0.00093	T	.	.	.	0.101	0.28911	.	.	0.50024110626	0.49660	0.31817064862095623	0.31730	0.260787108543	0.28638	0.20374506712	0.00573	T	0.039645	0.25260	T	-0.497832	0.00588	T	-0.472941	0.25200	T	0.0980893544472458	0.12146	T	0.583942	0.21221	T	0.9028335	0.91638	0.9043453	0.95285	0.9028335	0.91639	0.9043453	0.95285	-12.841	0.88697	D	.	.	0.398	0.59466	A	.;.	.;.	3.842409	0.55612	23.6	0.99187897915290413	0.54877	0.24604	0.22445	N	AEFI	0.083653	0.16950	N	0.412075627092182	0.62085	4.418808	0.224144239203452	0.51191	3.303746	0.0102194031806701	0.11986	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.35	5.35	0.76297	3.049000	0.49560	0.812000	0.21762	0.554000	0.28208	0.107000	0.22934	0.001000	0.17328	0.910000	0.44547	0.0:0.0:0.0:1.0	14.162	0.64986	151	0.94052	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001088	0.000000	0.002907	0.006369	0.000000	0.000000	0.000000	0.000000	0.02941	2394.13	34	chr11	55651541	.	T	A	2394.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.78;DP=785;ExcessHet=0;FS=1.169;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.137;SOR=0.605	GT:AD:DP:GQ:PL	0/1:92,85:177:99:2407,0,2414	16	0	1	2
chr11	55665738	55665738	A	T	exonic	OR4C6	.	nonsynonymous SNV	OR4C6:NM_001004704:exon1:c.A572T:p.H191L	.	.	.	.	.	.	.	.	.	.	.	4005181	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00172569771517	.	0.000199681	8.241e-06	9.615e-05	0	0	0	0	0	0	1.94e-05	3	154602	rs112579144	7.525e-06	7.524e-06	8.168e-06	6.876e-06	0.0001	4.04e-06	2.95e-06	5.852e-05	3.76e-05	0.0001	2.237e-05	0	0	0	0	0	4.968e-05	2.319e-05	2.629e-05	2.625e-05	1.286e-05	4.032e-05	9.655e-05	8.14e-06	5.14e-06	3.25e-05	1.915e-05	9.655e-05	0	0	0	0	0	0	0	0	0	0.056	0.38185	T	0.039	0.51112	D	0.001	0.07471	B	0.012	0.16012	B	0.734413	0.09827	N	0.838847	1	0.08975	N	1.555	0.39373	L	8.74	0.00084	T	-5.59	0.86527	D	0.153	0.15749	-0.9950	0.31299	T	0.001	0.00188	T	10	0.061587423	0.07744	T	0.001726	0.02882	T	0.041	0.10877	.	.	0.242825505644	0.23883	0.09946311418779279	0.09877	0.00172631857531	0.00144	0.215545326471	0.01069	T	0.018315	0.14784	T	-0.401376	0.02268	T	-0.632797	0.10203	T	0.0427444651722908	0.04190	T	0.488051	0.14953	T	0.19128488	0.40749	0.19795796	0.43605	0.19128488	0.40749	0.19795796	0.43604	-6.376	0.49322	T	.	.	0.096	0.17657	B	.;.	.;.	1.389815	0.18026	13.50	0.68064726076175719	0.08544	0.05454	0.11332	N	AEFI	0.057485	0.10712	N	-1.03066547397134	0.07972	0.3721996	-1.09109764339325	0.07874	0.3848245	1.38003023615016E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.07	1.43	0.21585	0.148000	0.16042	-5.849000	0.01575	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.5303:0.3158:0.0:0.1539	5.764	0.17483	145	0.94217	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2639.33	37	chr11	55665738	.	A	T	2639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=849;ExcessHet=0;FS=0.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.584;SOR=0.783	GT:AD:DP:GQ:PL	0/1:85,94:179:99:2653,0,2307	18	0	1	0
chr11	55811887	55811887	C	G	exonic	OR5L1	.	nonsynonymous SNV	OR5L1:NM_001004738:exon1:c.C421G:p.R141G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0169280019912	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372180673	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.36423	P	0.425	0.45259	B	0.038975	0.24223	N	0.359275	1	0.08975	N	0.46	0.12951	N	.	.	.	.	.	.	.	.	-0.9942	0.31512	T	0.096	0.36029	T	10	0.09323755	0.16485	T	0.016928	0.38413	T	.	.	0.375	0.38830	.	.	0.32136225111024147	0.32049	.	.	0.197783902287	0.00395	T	0.004787	0.04206	T	-0.222204	0.17695	T	-0.556957	0.16663	T	0.230394721031189	0.21970	T	0.244976	0.03588	T	0.08967133	0.20959	0.091841474	0.21612	0.08967133	0.20959	0.091841474	0.21612	-2.328	0.04711	T	.	.	0.122	0.25429	B	.	.	1.521985	0.19539	14.31	0.90205242394330143	0.19479	0.06564	0.12577	N	AEFGI	0.056185	0.10365	N	-0.974377675990792	0.09153	0.4320412	-1.08863266806146	0.07923	0.3873897	6.36326099761863E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.98	1.61	0.22752	0.016000	0.13272	-3.518000	0.02726	-2.529000	0.00254	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0985:0.0:0.9015	9.876	0.40371	155	0.93937	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3245.33	34	chr11	55811887	.	C	G	3245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=2342;ExcessHet=0;FS=1.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-1.227;SOR=0.836	GT:AD:DP:GQ:PL	0/1:115,117:232:99:3259,0,2829	18	0	1	0
chr11	56105790	56105790	A	T	exonic	OR8H2	.	nonsynonymous SNV	OR8H2:NM_001005200:exon1:c.A748T:p.I250F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00218784312769	.	0.000599042	2.476e-05	0.0003	0	0	0	0	0	0	4.53e-05	7	154602	rs113551376	1.095e-05	1.094e-05	1.225e-05	9.627e-06	0.0003	6.48e-06	5.25e-06	0.0001	0.0001	0.0003	2.237e-05	0	0	0	0	0	8.281e-05	1.159e-05	3.939e-05	3.937e-05	2.57e-05	5.37e-05	0.0001	1.714e-05	1.129e-05	6.267e-05	4.289e-05	0.0001	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	0.74	0.42962	P	0.457	0.46318	P	0.223461	0.16084	N	0.561686	1	0.08975	N	0.955	0.23872	L	8.59	0.00172	T	-3.32	0.66085	D	0.359	0.40063	-0.9468	0.41515	T	0.000	0.00114	T	10	0.04423225	0.03357	T	0.002188	0.04124	T	0.062	0.17934	.	.	0.148003135375	0.14442	0.13796935024926812	0.13720	0.668546190933	0.59301	0.209987193346	0.00811	T	0.004216	0.03621	T	-0.456186	0.01038	T	-0.613621	0.11692	T	0.199145974686596	0.20369	T	0.834017	0.50309	T	0.5004323	0.67120	0.4858045	0.70238	0.5004323	0.67121	0.4858045	0.70238	-5.357	0.40504	T	.	.	0.176	0.44948	B	.;.;.	.;.;.	2.355001	0.30199	18.36	0.95964767979775334	0.28312	0.02425	0.06847	N	AEFI	0.039328	0.05696	N	-0.843607199474546	0.12208	0.5936631	-1.09625243785486	0.07773	0.3794528	0.00133401064335633	0.08454	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.58	-7.11	0.01389	-1.196000	0.03149	.	.	0.516000	0.23499	0.000000	0.06391	0.000000	0.08366	0.721000	0.34804	0.2788:0.3817:0.2442:0.0954	3.130	0.06033	150	0.94078	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2707.33	143	chr11	56105790	.	A	T	2707.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=3177;ExcessHet=0;FS=2.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0.891;QD=11.62;ReadPosRankSum=0.073;SOR=0.894	GT:AD:DP:GQ:PL	0/1:131,102:233:99:2721,0,3777	18	0	1	0
chr11	56137097	56137097	C	A	exonic	OR8J3	.	nonsynonymous SNV	OR8J3:NM_001004064:exon1:c.G622T:p.V208F	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0041	0.00419329	0.0012	0.0129	0.0003	0	0	7.503e-05	0.0011	6.078e-05	0.0011643	180	154602	rs1384094	0.0005	0.0005	0.0005	0.0005	0.0133	0.0004	0.0004	0.0123	0.0119	0.0133	0.0003	0	0.0001	0.0001	0.0026	9.804e-05	0.0011	0.0002	0.0037	0.0037	0.0038	0.0035	0.0126	0.0034	0.0033	0.0117	0.0113	0.0126	0	0.0007	0	0	0	0.0034	0.0002	0.0028	0.0012	0.242	0.17584	T	0.301	0.20293	T	0.001	0.07471	B	0.006	0.12133	B	0.142469	0.18242	N	0.537129	1	0.08975	N	0.38	0.12130	N	1.22	0.37052	T	-1.59	0.38345	N	0.095	0.07535	-1.0427	0.16503	T	0.013	0.05225	T	10	0.0044235587	0.00090	T	.	.	.	0.015	0.02232	.	.	0.0551355673512	0.04727	0.2682534028983566	0.26738	0.00925169347496	0.00840	0.213921129704	0.00989	T	0.005043	0.04473	T	-0.70746	0.00033	T	-0.777317	0.02535	T	0.00878362377458252	0.00108	T	0.0984901	0.00732	T	0.07205621	0.15999	0.06526403	0.13202	0.07205621	0.15999	0.06526403	0.13201	-4.134	0.25789	T	.	.	0.083	0.09530	B	.;.;.	.;.;.	-1.515205	0.00286	0.005	0.79838437344825552	0.12924	0.01602	0.05196	N	AEFI	0.057519	0.10720	N	-1.76125981855104	0.00647	0.02791591	-1.82685521292029	0.00677	0.03011425	0.00105080133110562	0.08159	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.27	-6.55	0.01686	-7.588000	0.00043	.	.	-0.407000	0.05276	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.2336:0.2404:0.3556:0.1704	1.678	0.02655	158	0.93861	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.008152	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	2668.33	40	chr11	56137097	.	C	A	2668.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=1471;ExcessHet=0;FS=4.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-0.016;SOR=0.921	GT:AD:DP:GQ:PL	0/1:92,93:185:99:2682,0,2447	18	0	1	0
chr11	56275658	56275658	A	G	exonic	OR5T1	.	nonsynonymous SNV	OR5T1:NM_001004745:exon3:c.A20G:p.D7G	.	.	.	.	.	.	.	.	.	.	.	4001802	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.00336166923547	.	0.000599042	7.093e-05	0.0006	0	0	0	0	0	0.0002	9.06e-05	14	154602	rs112452716	2.512e-05	2.736e-05	2.355e-05	2.67e-05	0.0005	1.839e-05	1.632e-05	0.0003	0.0002	0.0005	2.561e-05	0	0	1.905e-05	0	0	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0004	7.572e-05	6.277e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.000025	0.00348	N	11.022400	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	.	.	-1.0636	0.10878	T	0.034	0.14552	T	10	0.014890552	0.00313	T	0.003362	0.07512	T	.	.	.	.	.	.	0.2663401379962313	0.26547	.	.	0.379129290581	0.22134	T	0.011537	0.10280	T	-0.628906	0.00097	T	-0.782575	0.02376	T	0.0107962271428904	0.00153	T	.	.	.	0.037598684	0.04850	0.05439186	0.09347	0.037598684	0.04849	0.05439186	0.09347	-2.935	0.09497	T	.	.	0.088	0.11654	B	.;.	.;.	0.473785	0.08434	5.190	0.10998575475135751	0.00154	0.00236	0.01316	N	AEFI	0.020517	0.00818	N	-1.62442004946281	0.01148	0.04985947	-1.72903984974598	0.01015	0.04549886	1.26857012954557E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.89	-5.78	0.02169	-1.751000	0.01920	.	.	-0.995000	0.01833	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3275:0.4185:0.254:0.0	5.639	0.16829	190	0.92594	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1123.33	33	chr11	56275658	.	A	G	1123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.637;DP=712;ExcessHet=0;FS=1.695;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.443;SOR=0.483	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1137,0,1290	18	0	1	0
chr11	56276253	56276253	C	A	exonic	OR5T1	.	nonsynonymous SNV	OR5T1:NM_001004745:exon3:c.C615A:p.H205Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00161913624684	.	0.000599042	2.471e-05	0.0003	0	0	0	0	0	0	4.53e-05	7	154602	rs112370265	1.231e-05	1.231e-05	1.225e-05	1.238e-05	0.0003	7.7e-06	6.35e-06	0.0002	0.0001	0.0003	2.236e-05	0	0	0	0	8.993e-07	8.279e-05	1.159e-05	3.941e-05	3.937e-05	2.57e-05	5.373e-05	0.0001	1.715e-05	1.129e-05	6.269e-05	4.29e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	0.358	0.33818	B	0.287	0.40572	B	0.002044	0.37364	N	0.118188	1	0.08975	N	-0.525	0.02545	N	.	.	.	.	.	.	.	.	-0.9431	0.42121	T	0.000	0.00075	T	10	0.020596504	0.00477	T	0.001619	0.02625	T	.	.	0.194	0.10571	.	.	0.06162908363157492	0.06102	.	.	0.240920811892	0.02873	T	0.115537	0.43420	T	-0.599157	0.00147	T	-0.818989	0.01473	T	0.162088751792908	0.18024	T	.	.	.	0.19358	0.41073	0.1765563	0.40198	0.19358	0.41073	0.1765563	0.40197	-4.89	0.35622	T	.	.	0.134	0.29311	B	.;.	.;.	1.086578	0.14700	11.25	0.67869322184000525	0.08484	0.01010	0.03813	N	AEFI	0.029468	0.02785	N	-1.25405470401565	0.04246	0.1912774	-1.42876134273051	0.02968	0.1375589	0.00232688259561571	0.09325	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.35	-6.3	0.01832	-5.572000	0.00134	.	.	0.506000	0.23061	0.000000	0.06391	0.000000	0.08366	0.045000	0.14751	0.4382:0.2757:0.0:0.2861	4.349	0.10585	190	0.92594	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5439.33	46	chr11	56276253	.	C	A	5439.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.57;DP=1254;ExcessHet=0;FS=3.194;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.87;MQRankSum=2.27;QD=14.02;ReadPosRankSum=0.266;SOR=0.641	GT:AD:DP:GQ:PL	0/1:192,196:388:99:5453,0,4727	18	0	1	0
chr11	56290519	56290519	G	A	exonic	OR8H1	.	nonsynonymous SNV	OR8H1:NM_001005199:exon1:c.C544T:p.P182S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0030161700066	0.0002	0.000599042	5.767e-05	0.0007	0	0	0	0	0	0	7.76e-05	12	154602	rs113911443	2.052e-05	2.052e-05	2.45e-05	1.65e-05	0.0006	1.456e-05	1.264e-05	0.0004	0.0003	0.0006	2.236e-05	0	0	0	0	8.993e-07	0.0001	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.573e-05	6.278e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.016	0.60972	D	0.988	0.62325	D	0.86	0.61233	P	0.002274	0.36887	N	0.125962	1	0.08975	N	1.695	0.43389	L	8.56	0.00185	T	-6.68	0.92391	D	0.118	0.10769	-0.9263	0.44673	T	0.001	0.00318	T	10	0.048878253	0.04399	T	0.003016	0.06457	T	0.092	0.26621	.	.	0.375861065471	0.37200	0.10934694366900514	0.10863	0.141766843651	0.15974	0.171019047499	0.00036	T	0.014584	0.12389	T	-0.515447	0.00467	T	-0.605916	0.12319	T	0.252123767802397	0.22967	T	0.840116	0.51562	T	0.524061	0.68492	0.5364493	0.73213	0.524061	0.68493	0.5364493	0.73214	-7.124	0.54933	T	.	.	0.235	0.47912	B	.;.;.	.;.;.	2.492799	0.32161	18.96	0.99773305587269667	0.86088	0.08011	0.13990	N	AEFI	0.039900	0.05858	N	-0.177507415099262	0.34073	1.940459	-0.414907454577084	0.24559	1.345549	1.38983405297374E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.81	2.87	0.32523	-0.291000	0.08379	.	.	0.447000	0.21209	0.000000	0.06391	0.000000	0.08366	0.490000	0.28791	0.0:0.0:0.8379:0.1621	13.056	0.58390	187	0.92701	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2257.33	107	chr11	56290519	.	G	A	2257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.176;DP=1796;ExcessHet=0;FS=3.485;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.4;SOR=0.754	GT:AD:DP:GQ:PL	0/1:89,84:173:99:2271,0,2547	18	0	1	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	775.27	278	chr11	56375950	.	A	*	775.27	.	AC=16;AF=0.421;AN=38;BaseQRankSum=5.68;DP=4836;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9009;MLEAC=16;MLEAF=0.421;MQ=59.99;MQRankSum=0;QD=0.17;ReadPosRankSum=0.109;SOR=1.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:247,36:283:99:0|1:56375918_A_G:768,0,10263:56375918	3	0	16	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	490.26	278	chr11	56375951	.	T	*	490.26	.	AC=16;AF=0.444;AN=36;BaseQRankSum=4.1;DP=4828;ExcessHet=38.2876;FS=6.951;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.11;ReadPosRankSum=0.061;SOR=1.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:247,36:283:99:0|1:56375918_A_G:768,0,10263:56375918	2	0	16	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	797.75	278	chr11	56375953	.	A	*	797.75	.	AC=16;AF=0.444;AN=36;BaseQRankSum=3.15;DP=4825;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.18;ReadPosRankSum=0.371;SOR=1.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:247,36:283:99:0|1:56375918_A_G:768,0,10263:56375918	2	0	16	1
chr11	56490694	56490694	T	A	exonic	OR5M8	.	nonsynonymous SNV	OR5M8:NM_001005282:exon1:c.A677T:p.K226M	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0048	0.00479233	0.0014	0.0158	0.0007	0	0	3.012e-05	0	6.056e-05	0.0014036	217	154602	rs112896959	0.0004	0.0004	0.0005	0.0004	0.0161	0.0004	0.0004	0.0150	0.0145	0.0161	0.0008	0	2.519e-05	0	0.0007	7.194e-06	0.0009	0.0001	0.0044	0.0044	0.0043	0.0044	0.0153	0.0041	0.0040	0.0143	0.0139	0.0153	0	0.0016	0	0	0	0	2.94e-05	0.0024	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.949	0.53761	P	0.704	0.54300	P	0.266004	0.15220	N	0.531595	1	0.08975	N	2.555	0.74557	M	8.56	0.00185	T	-3.24	0.65171	D	0.216	0.24135	-0.9080	0.47097	T	0.001	0.00222	T	10	0.0047613382	0.00101	T	.	.	.	0.032	0.07718	.	.	0.356690202451	0.35275	0.2433908880865762	0.24253	0.0121285372821	0.01151	0.216411963105	0.01113	T	0.025605	0.19114	T	-0.62294	0.00105	T	-0.653961	0.08679	T	0.0826605157976357	0.10325	T	0.268373	0.04464	T	0.24905697	0.47898	0.13016315	0.31281	0.24905697	0.47897	0.13016315	0.31281	-9.103	0.68356	D	.	.	0.159	0.35204	B	.	.	1.793166	0.22793	15.76	0.98046760286067791	0.37835	0.06273	0.12265	N	AEFI	0.104800	0.20959	N	-0.571610096002946	0.19811	1.039784	-0.805821559548793	0.14355	0.7496009	1.65085303152409E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.35	0.112	0.13929	-2.522000	0.01026	.	.	-1.045000	0.01654	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5239:0.0:0.4761	7.974	0.29304	259	0.89842	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	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1619.33	33	chr11	56490694	.	T	A	1619.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.974;DP=735;ExcessHet=0;FS=3.252;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.837;SOR=1.001	GT:AD:DP:GQ:PL	0/1:61,64:125:99:1633,0,1739	18	0	1	0
chr11	56542897	56542897	G	A	exonic	OR5M11	.	nonsynonymous SNV	OR5M11:NM_001005245:exon1:c.C361T:p.R121C	.	431	1090	0	1	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	.	0.0044	0.00499201	0.0014	0.0152	0.0013	0.0001	0	3.001e-05	0	0.0001	0.0014101	218	154602	rs116068549	0.0005	0.0005	0.0006	0.0004	0.0158	0.0005	0.0004	0.0147	0.0142	0.0158	0.0014	0	5.039e-05	0	0.0005	3.777e-05	0.0009	0.0002	0.0043	0.0043	0.0043	0.0044	0.0148	0.0040	0.0039	0.0138	0.0135	0.0148	0	0.0022	0	0	0	0	2.94e-05	0.0024	0.0002	0.006	0.61437	D	0.016	0.60972	D	0.72	0.42342	P	0.117	0.32014	B	.	.	.	.	0.98855	0.40785	D	2.62	0.76659	M	-1.09	0.77206	T	-7.21	0.94249	D	0.319	0.35938	-0.4572	0.70161	T	0.278	0.64997	T	9	0.0097364485	0.00219	T	.	.	.	0.268	0.58254	.	.	0.821544516766	0.81986	0.5549406161320563	0.55421	0.0303404334318	0.03129	0.236268147826	0.02464	T	0.108376	0.42136	T	-0.432045	0.01441	T	-0.379753	0.35751	T	0.0760336565287063	0.09472	T	0.89721	0.64041	D	0.31971076	0.54616	0.2817648	0.54160	0.31971076	0.54616	0.2817648	0.54159	-8.002	0.61084	D	.	.	0.127	0.26947	B	.	.	3.649505	0.51790	23.1	0.98579652641999793	0.43219	0.85766	0.44935	D	AEFI	0.271513	0.38734	N	-0.019722909099759	0.40964	2.441864	-0.0308941371439077	0.38327	2.256494	3.73650098846346E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.1	2.18	0.26813	2.106000	0.41459	.	.	-0.285000	0.06363	1.000000	0.71638	0.000000	0.08366	0.004000	0.06068	0.2382:0.0:0.6182:0.1436	5.162	0.14394	294	0.88270	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	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2960.33	34	chr11	56542897	.	G	A	2960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.55;DP=1541;ExcessHet=0;FS=1.11;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=0.398;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,104:194:99:1|0:56542880_A_T:2974,0,3234:56542880	18	0	1	0
chr11	59087137	59087137	A	G	exonic	GLYATL1B	.	nonsynonymous SNV	GLYATL1B:NM_001355566:exon2:c.A152G:p.E51G	.	434	1065	22	1	0	24	0.0111421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0115815	.	.	.	.	.	.	.	.	0.0056093	146	26028	rs371929838	0.0054	0.0075	0.0048	0.0059	0.0222	0.0053	0.0052	0.0210	0.0205	0.0105	0.0039	0.0090	0.0067	0.0020	0.0129	0.0030	0.0063	0.0222	0.0064	0.0091	0.0062	0.0066	0.0304	0.0060	0.0059	0.0263	0.0247	0.0101	0.0011	0.0033	0.0107	0.0054	0.0020	0.0068	0.0038	0.0077	0.0304	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.23125	.	.	.	.	.	.	.	0.0076552927	0.00174	T	.	.	.	.	.	.	.	.	.	0.06532608308566358	0.06471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.588241	0.21547	T	0.11397161	0.26911	0.30475253	0.56503	0.11397161	0.26911	0.30475253	0.56502	-6.036	0.46580	T	.	.	0.113	0.22208	B	.	.	1.979036	0.25141	16.65	0.74871709088921856	0.10859	0.05064	0.10856	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.00281901235436436	0.09726	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.0518458	0.10732	2.57	2.57	0.29928	4.056000	0.57161	4.681000	0.44321	0.375000	0.20354	0.315000	0.25459	0.965000	0.29475	0.058000	0.15825	1.0:0.0:0.0:0.0	6.877	0.23335	628	0.65206	Glycine N-acyltransferase, 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	.	.	.	.	.	.	.	.	0.05263	3155.83	40	chr11	59087137	.	A	G	3155.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.91;DP=978;ExcessHet=0.119;FS=3.135;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=52.37;MQRankSum=-8.875;QD=9.89;ReadPosRankSum=-0.172;SOR=0.895	GT:AD:DP:GQ:PL	0/1:90,70:160:99:1922,0,2324	17	0	2	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	5859.65	112	chr11	61740527	.	G	C	5859.65	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.763;DP=1817;ExcessHet=17.0548;FS=279.402;InbreedingCoeff=-0.5834;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=0.839;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,45:114:99:0|1:61740527_G_C:848,0,1761:61740527	6	0	13	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	7196.89	114	chr11	61740531	.	T	C	7196.89	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.001;DP=1904;ExcessHet=31.086;FS=256.929;InbreedingCoeff=-0.8097;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=0.515;SOR=12.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,46:113:99:0|1:61740527_G_C:869,0,1729:61740527	2	0	17	0
chr11	62298966	62298966	G	C	exonic	SCGB1D4	.	nonsynonymous SNV	SCGB1D4:NM_206998:exon1:c.C45G:p.C15W	.	420	1096	5	1	0	7	0.00318327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	.	.	0.00199681	0.0009	0	0.0002	0	0	4.505e-05	0	0.0061	0.0007633	118	154602	rs552294907	0.0004	0.0004	0.0002	0.0006	0.0056	0.0003	0.0003	0.0052	0.0050	0	0	0	0	0	0.0007	3.058e-05	0.0003	0.0056	0.0002	0.0002	0.0001	0.0003	0.0068	0.0002	0.0001	0.0050	0.0044	0	0	0	0	0	0	0.0034	1.47e-05	0	0.0068	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.995	0.83170	D	0.315211	0.14365	U	0.498628	0.597792	0.32512	D	.	.	.	1.11	0.38883	T	-8.38	0.97104	D	0.406	0.44666	-0.7127	0.59820	T	0.187	0.53782	T	9	0.034885556	0.01713	T	.	.	.	0.142	0.37995	0.865	0.96050	0.128392430309	0.12331	0.34922787049157333	0.34836	0.401354669239	0.41119	0.412497580051	0.26803	T	0.326154	0.69680	T	-0.42229	0.01654	T	-0.377309	0.36036	T	0.358458636948981	0.27349	T	0.567543	0.20130	T	0.6598306	0.75890	0.48794204	0.70368	0.6598306	0.75891	0.48794204	0.70369	-8.423	0.63918	D	.	.	0.323	0.54696	B	.	.	3.308079	0.45438	22.1	0.97454596145231909	0.34048	0.32510	0.24603	N	AEFDBI	0.180267	0.30757	N	0.03681826264206	0.43537	2.644701	-0.137943927483515	0.33875	1.942458	8.20889928437106E-5	0.04703	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.27	0.238	0.14741	0.649000	0.24529	.	.	0.604000	0.46097	0.927000	0.32177	0.017000	0.20586	0.006000	0.07323	0.1741:0.28:0.5459:0.0	3.276	0.06491	385	0.83500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1408.33	34	chr11	62298966	.	G	C	1408.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.427;DP=754;ExcessHet=0;FS=1.496;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-1.392;SOR=0.559	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1422,0,1292	18	0	1	0
chr11	64836428	64836428	C	T	exonic	CDC42BPG	.	nonsynonymous SNV	CDC42BPG:NM_017525:exon12:c.G1487A:p.R496Q	.	.	.	.	.	.	.	.	0	0.024	.	3644865	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.00814575739198	.	.	6.635e-05	9.677e-05	0	0.0001	0	0	0	0.0004	5.82e-05	9	154602	rs768977915	4.791e-05	4.857e-05	3.949e-05	5.64e-05	0.0003	3.862e-05	3.542e-05	0.0002	0.0002	0.0001	4.473e-05	0	0.0001	0	0	2.518e-05	9.937e-05	0.0003	5.258e-05	5.907e-05	2.571e-05	8.068e-05	0.0004	2.558e-05	1.83e-05	8.877e-05	5.386e-05	0	0	0.0003	0	0.0002	0	0	1.472e-05	0	0.0004	0.285	0.15251	T	0.177	0.29740	T	0.0	0.02946	B	0.0	0.01387	B	0.055776	0.22615	N	0.313045	0.948202	0.26576	N	-1.92	0.00231	N	1.98	0.21865	T	-0.18	0.09796	N	0.153	0.15749	-0.9927	0.31906	T	0.014	0.05465	T	10	0.027538419	0.00898	T	0.008146	0.21598	T	0.022	0.04323	0.272	0.22210	0.183819452728	0.17975	0.021707680984512187	0.02122	0.27387013259	0.29889	0.37955981493	0.22195	T	0.011961	0.10589	T	-0.577933	0.00198	T	-0.767614	0.02847	T	0.0318876069432993	0.02287	T	0.49875	0.15541	T	0.034299806	0.03822	0.03212224	0.01901	0.034299806	0.03822	0.03212224	0.01901	-3.467	0.15973	T	.	.	0.058	0.00658	B	.	.	0.948807	0.13246	9.749	0.92484842303916981	0.21917	0.08207	0.14165	N	AEFGBI	0.055482	0.10178	N	-1.05360675368426	0.07516	0.3494509	-0.864168979414357	0.12947	0.6689682	0.99847104680272	0.37033	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.41	2.03	0.25714	-0.844000	0.04453	1.375000	0.25987	-0.126000	0.13398	0.000000	0.06391	1.000000	0.68203	0.058000	0.15825	0.0:0.2035:0.0:0.7965	6.703	0.22421	307	0.87649	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1662.33	38	chr11	64836428	.	C	T	1662.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.475;DP=896;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=0.12;SOR=0.622	GT:AD:DP:GQ:PL	0/1:36,61:97:99:1676,0,827	18	0	1	0
chr11	64905621	64905621	C	T	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon24:c.G3382A:p.A1128T,ATG2A:NM_001367972:exon24:c.G3382A:p.A1128T,ATG2A:NM_015104:exon24:c.G3406A:p.A1136T	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.016526267159	0.0002	0.00199681	0.0014	0	0.0001	0	0	0.0003	0.0038	0.0087	0.0011449	177	154602	rs374586580	0.0008	0.0008	0.0007	0.0009	0.0063	0.0007	0.0007	0.0058	0.0057	0.0001	0.0001	0	5.04e-05	7.502e-05	0.0005	0.0005	0.0006	0.0063	0.0004	0.0004	0.0003	0.0005	0.0064	0.0003	0.0003	0.0046	0.0040	0.0001	0	0.0001	0	0	0	0	0.0004	0.0009	0.0064	0.13	0.26740	T	0.128	0.34959	T	0.087	0.24971	B	0.013	0.16460	B	0.000001	0.84330	D	0.000000	0.999791	0.49177	D	2.48	0.72069	M	3.19	0.07353	T	-1.2	0.30555	N	0.432	0.47115	-0.7707	0.56820	T	0.230	0.59608	T	10	0.008916557	0.00202	T	0.016526	0.37830	T	0.050	0.13987	.	.	0.102598925029	0.09809	0.5603068715286148	0.55957	0.149477780584	0.16849	0.525762081146	0.42437	T	0.029814	0.21277	T	-0.50646	0.00526	T	-0.495284	0.22838	T	0.0402178715161687	0.03731	T	0.783822	0.42110	T	0.06670891	0.14380	0.08212884	0.18719	0.06670891	0.14380	0.08212884	0.18719	-7.298	0.56181	T	.	.	0.118	0.24020	B	.	.	3.386394	0.46868	22.4	0.99290528908054276	0.58255	0.95090	0.63401	D	AEFDGBI	0.511343	0.54001	D	0.0112684498191239	0.42368	2.551381	-0.0262579861003195	0.38532	2.271555	0.999865191705542	0.44398	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.85	3.94	0.44807	4.614000	0.60886	3.255000	0.37052	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.041000	0.14368	0.0:0.909:0.0:0.091	11.092	0.47344	284	0.88763	Autophagy-related protein 2 CAD motif	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003817	0.02632	1028.33	34	chr11	64905621	.	C	T	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.209;DP=721;ExcessHet=0;FS=9.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.047;SOR=0.2	GT:AD:DP:GQ:PL	0/1:47,40:87:99:1042,0,1442	18	0	1	0
chr11	65794101	65794101	C	G	exonic	OVOL1	.	nonsynonymous SNV	OVOL1:NM_004561:exon2:c.C171G:p.C57W	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0116529228944	.	0.000599042	0.0005	0	0	0	0	0	0	0.0034	0.0003816	59	154602	rs546254917	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0034	0.0032	5.974e-05	0	0	2.519e-05	0	0.0009	4.317e-05	0.0002	0.0037	0.0001	0.0001	0.0001	0.0002	0.0031	9.141e-05	7.698e-05	0.0019	0.0015	0	0	0	0	0	0	0	7.349e-05	0.0005	0.0031	0.012	0.54683	D	0.034	0.52727	D	0.997	0.70673	D	0.844	0.60373	P	0.098413	0.19982	N	0.480672	0.999138	0.81001	D	2.08	0.57402	M	3.09	0.08371	T	-2.23	0.50012	N	0.525	0.55453	-0.9858	0.33639	T	0.021	0.08870	T	10	0.0058167577	0.00130	T	0.011653	0.29486	T	0.122	0.33800	0.204	0.11936	0.28494636882	0.28116	0.35929546065666407	0.35843	1.20699924719	0.80728	0.620200097561	0.55757	T	0.507328	0.82512	D	-0.489255	0.00656	T	-0.475839	0.24890	T	0.0897866894625359	0.11193	T	0.662434	0.27137	T	0.294753	0.52430	0.1815004	0.41018	0.294753	0.52430	0.1815004	0.41017	-5.25	0.39445	T	.	.	0.492	0.64206	A	.	.	2.731845	0.35759	19.98	0.98941740500311126	0.48959	0.64676	0.32485	D	AEFDBI	0.706286	0.66140	D	-0.00721069881489632	0.41528	2.485592	-0.0277718871503972	0.38465	2.266634	0.999901048747032	0.45458	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.95	1.99	0.25423	-1.116000	0.03397	0.220000	0.16063	0.599000	0.40250	0.000000	0.06391	0.969000	0.29651	0.977000	0.56843	0.0:0.7196:0.0:0.2804	7.712	0.27851	248	0.90287	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1752.33	43	chr11	65794101	.	C	G	1752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.258;DP=862;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=1.49;SOR=0.656	GT:AD:DP:GQ:PL	0/1:66,74:140:99:1766,0,1628	18	0	1	0
chr11	65962042	65962042	C	G	exonic	SART1	.	nonsynonymous SNV	SART1:NM_005146:exon1:c.C262G:p.P88A	.	378	1101	40	3	0	46	0.0204626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0014	0.00319489	0.0170	0.0030	0.0357	0	.	0.0221	0	0.0162	0.0016235	251	154602	rs200247501	0.0061	0.0058	0.0058	0.0065	0.0165	0.0060	0.0060	0.0157	0.0154	0.0009	0.0022	0.0224	0	0.0009	0.0139	0.0056	0.0067	0.0165	0.0044	0.0044	0.0046	0.0041	0.0147	0.0041	0.0040	0.0120	0.0110	0.0011	0	0.0026	0.0286	0	0.0007	0.0068	0.0057	0.0067	0.0147	0.033	0.44358	D	0.708	0.05563	T	0.557	0.38282	P	0.31	0.41396	B	0.000043	0.53742	D	0.074589	0.78246	0.34284	D	0.345	0.11182	N	1.88	0.23884	T	-1.47	0.35991	N	0.147	0.14905	-0.9705	0.37094	T	0.059	0.24612	T	10	0.0041353405	0.00081	T	.	.	.	0.096	0.27654	.	.	0.394236971158	0.39037	0.16397195523323133	0.16317	1.36751619527	0.84468	0.82925593853	0.86448	D	0.018581	0.14954	T	-0.475857	0.00782	T	-0.443988	0.28361	T	0.0257445643164212	0.01371	T	0.693931	0.30359	T	0.1616277	0.36185	0.08255757	0.18852	0.1616277	0.36185	0.08255757	0.18852	-3.592	0.17742	T	.	.	0.051	0.00187	B	.	.	2.156030	0.27469	17.47	0.99168744947273746	0.54326	0.39653	0.26261	N	AEFDGBHCI	0.055179	0.10095	N	-0.101039697550983	0.37347	2.171556	-0.0787453825877827	0.36269	2.108645	0.999999999991621	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.12	3.19	0.35720	0.448000	0.21443	0.618000	0.20101	0.524000	0.24156	0.995000	0.38783	0.998000	0.33993	0.986000	0.61781	0.2209:0.7791:0.0:0.0	8.988	0.35169	229	0.91079	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015652	0.000000	0.003289	0.008000	0.000000	0.016667	0.024752	0.033333	0.02632	248.34	9	chr11	65962042	.	C	G	248.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=381;ExcessHet=0;FS=3.992;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-1.77;SOR=1.911	GT:AD:DP:GQ:PL	0/1:16,10:26:99:262,0,406	18	0	1	0
chr11	66070569	66070569	C	G	exonic	PACS1	.	nonsynonymous SNV	PACS1:NM_018026:exon1:c.C83G:p.S28C	Schuurs-Hoeijmakers syndrome, Autosomal dominant	385	1136	1	0	0	1	0.000439947	.	.	.	207888	not_specified|Inborn_genetic_diseases|PACS1-related_disorder	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	0.1477733243	.	.	0.0026	0	0	0	0	0	0	0.0037	0.0001552	24	154602	rs763294619	0.0002	0.0002	0.0002	0.0003	0.0034	0.0002	0.0002	0.0030	0.0029	3.726e-05	0	0	3.488e-05	0	0.0007	4.366e-05	0.0002	0.0034	0.0001	0.0001	0.0001	0.0001	0.0031	8.198e-05	6.749e-05	0.0019	0.0016	0	0	0	0	0	0	0	4.429e-05	0.0005	0.0031	0.0	0.91255	D	0.085	0.41074	T	0.9	0.49598	P	0.089	0.29769	B	0.112124	0.19371	N	0.277584	0.986256	0.24634	N	0.895	0.22405	L	1.88	0.23884	T	-0.27	0.11366	N	0.236	0.26596	-1.0977	0.04380	T	0.045	0.19234	T	10	0.008917958	0.00202	T	0.147773	0.82976	D	0.053	0.14996	0.188	0.09776	0.151262610727	0.14761	0.17392962500123596	0.17312	1.36435413803	0.84409	0.914445996284	0.97872	D	0.022775	0.17502	T	-0.462334	0.00951	T	-0.439623	0.28852	T	0.191782791393195	0.19949	T	0.484552	0.14745	T	0.24131316	0.47045	0.2851111	0.54512	0.24131316	0.47045	0.2851111	0.54511	-7.557	0.58010	D	.	.	0.137	0.29779	B	.	.	3.490317	0.48778	22.7	0.96282798081611931	0.29286	0.29298	0.23785	N	AEFDGBHCI	0.075207	0.15097	N	-0.23768387067811	0.31598	1.77339	-0.245793043928377	0.29917	1.68003	0.999999952709011	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.391439	0.06340	0	0.249971	0.05119	0	.	.	2.94	2.94	0.33188	2.935000	0.48657	5.213000	0.47973	0.219000	0.18061	0.469000	0.26714	1.000000	0.68203	0.507000	0.29175	0.0:1.0:0.0:0.0	9.466	0.37980	319	0.87030	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001091	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007752	0.05263	574.83	35	chr11	66070569	.	C	G	574.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.98;DP=464;ExcessHet=0.119;FS=6.032;InbreedingCoeff=-0.0557;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.704;SOR=1.569	GT:AD:DP:GQ:PL	0/1:11,10:21:99:254,0,291	17	0	2	0
chr11	70354410	70354410	C	T	exonic	PPFIA1	.	nonsynonymous SNV	PPFIA1:NM_003626:exon17:c.C2273T:p.A758V,PPFIA1:NM_177423:exon17:c.C2273T:p.A758V,PPFIA1:NM_001378006:exon19:c.C2378T:p.A793V	.	.	.	.	.	.	.	.	.	.	.	713121	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.025	.	0.0091	0.00998403	0.0026	0.0275	0.0006	0	0	0.0002	0.0044	0	0.0024579	380	154602	rs139448605	0.0009	0.0009	0.0009	0.0008	0.0270	0.0008	0.0008	0.0256	0.0250	0.0270	0.0016	0	0	1.873e-05	0.0026	0.0001	0.0019	0.0002	0.0080	0.0080	0.0085	0.0075	0.0275	0.0076	0.0075	0.0262	0.0256	0.0275	0	0.0027	0	0	0	0.0102	0.0002	0.0085	0	0.071	0.35165	T	0.081	0.41742	T	0.012	0.24799	B	0.004	0.16862	B	0.011941	0.29350	N	0.314716	0.64121	0.30614	N	2.215	0.62545	M	1.62	0.28189	T	-2.19	0.49352	N	0.099	0.08088	-0.7363	0.58642	T	0.097	0.36471	T	10	0.0026628375	0.00041	T	.	.	.	0.025	0.05312	.	.	0.274431252636	0.27063	0.42823316278274376	0.42740	0.207269236385	0.23175	0.391059875488	0.23819	T	0.031642	0.22134	T	-0.540713	0.00332	T	-0.529201	0.19365	T	0.0244417466004927	0.01201	T	0.936106	0.78893	D	0.06788686	0.14741	0.10590737	0.25468	0.06788686	0.14741	0.10590737	0.25467	-7.495	0.57575	T	.	.	0.087	0.13221	B	.;.	.;.	2.076961	0.26416	17.11	0.99745232365062719	0.83852	0.92756	0.56469	D	AEFDBI	0.264789	0.38205	N	-0.0453413794841677	0.39811	2.353813	-0.0869473213609779	0.35929	2.084571	0.979978702535308	0.30084	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	4.45	0.53365	2.177000	0.42138	0.382000	0.17791	0.599000	0.40250	0.919000	0.31930	0.024000	0.20971	0.585000	0.31016	0.0:0.9277:0.0:0.0723	14.198	0.65225	764	0.49969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.005051	0.006793	0.005848	0.000000	0.008621	0.003049	0.000000	0.02632	1857.33	37	chr11	70354410	.	C	T	1857.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=778;ExcessHet=0;FS=2.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=1.24;SOR=0.946	GT:AD:DP:GQ:PL	0/1:59,71:130:99:1871,0,1279	18	0	1	0
chr11	70798550	70798550	C	T	exonic	SHANK2	.	nonsynonymous SNV	SHANK2:NM_001379226:exon4:c.G533A:p.S178N,SHANK2:NM_012309:exon14:c.G1670A:p.S557N	.	0	1508	14	0	0	14	0.00462046	.	.	.	2813475	not_provided|SHANK2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.145	0.0309722428644	0.0028	0.00339457	0.0039	0.0033	0.0073	0	0	0.0054	0.0052	0.0029	0.0009573	148	154602	rs141184740	0.0027	0.0024	0.0027	0.0027	0.0093	0.0026	0.0025	0.0075	0.0070	0.0087	0.0049	0.0123	0	4.082e-05	0.0093	0.0018	0.0060	0.0028	0.0037	0.0037	0.0037	0.0038	0.0069	0.0035	0.0034	0.0059	0.0055	0.0062	0	0.0069	0.0124	0	0	0.0068	0.0019	0.0114	0.0021	.	.	.	0.042	0.50226	D	0.997	0.70673	D	0.99	0.78936	D	0.000066	0.52346	U	0.073330	0.969965	0.38764	D	.	.	.	3.0	0.09167	T	.	.	.	0.686	0.69213	-1.1491	0.01052	T	0.054	0.22883	T	10	0.01044476	0.00232	T	0.030972	0.53161	D	.	.	.	.	0.353785824208	0.34994	.	.	.	.	0.851025700569	0.89770	D	.	.	.	-0.543089	0.00321	T	-0.549439	0.17381	T	0.0192810455869317	0.00634	T	0.90091	0.65583	D	.	.	.	.	.	.	.	.	-7.302	0.56210	T	.	.	0.889	0.82028	P	.	.	4.483212	0.69966	25.5	0.99492766276178901	0.67573	0.90012	0.50864	D	AEFDBI	0.721112	0.67146	D	0.603761567431857	0.73412	5.961941	0.554669799547695	0.71721	5.698465	0.523376809360585	0.21115	0.562547	0.31514	0	0.547309	0.14657	0	0.608884	0.39905	0	0.613276	0.41899	0	.	.	4.44	4.44	0.53164	5.394000	0.66031	7.254000	0.57939	0.539000	0.25131	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	14.004	0.63967	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020227	0.062500	0.023256	0.003676	0.000000	0.017857	0.000000	0.000000	0.02632	1968.33	33	chr11	70798550	.	C	T	1968.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.305;DP=821;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-2.315;SOR=0.676	GT:AD:DP:GQ:PL	0/1:113,84:197:99:1982,0,2883	18	0	1	0
chr11	74844254	74844254	G	C	exonic	XRRA1	.	nonsynonymous SNV	XRRA1:NM_001378171:exon8:c.C973G:p.Q325E,XRRA1:NM_001378167:exon10:c.C802G:p.Q268E,XRRA1:NM_001378168:exon10:c.C1108G:p.Q370E,XRRA1:NM_001378172:exon12:c.C898G:p.Q300E,XRRA1:NM_001378173:exon12:c.C898G:p.Q300E,XRRA1:NM_001378176:exon12:c.C802G:p.Q268E,XRRA1:NM_001378162:exon13:c.C973G:p.Q325E,XRRA1:NM_001378163:exon13:c.C898G:p.Q300E,XRRA1:NM_001378164:exon13:c.C898G:p.Q300E,XRRA1:NM_001378166:exon13:c.C802G:p.Q268E,XRRA1:NM_001378169:exon13:c.C757G:p.Q253E,XRRA1:NM_001378170:exon13:c.C973G:p.Q325E,XRRA1:NM_001378175:exon13:c.C802G:p.Q268E,XRRA1:NM_001270380:exon14:c.C1672G:p.Q558E,XRRA1:NM_001270381:exon14:c.C1108G:p.Q370E,XRRA1:NM_001378159:exon14:c.C1621G:p.Q541E,XRRA1:NM_001378160:exon14:c.C1621G:p.Q541E,XRRA1:NM_001378165:exon14:c.C802G:p.Q268E,XRRA1:NM_001378174:exon14:c.C802G:p.Q268E,XRRA1:NM_001378161:exon15:c.C1063G:p.Q355E,XRRA1:NM_001378158:exon16:c.C1912G:p.Q638E,XRRA1:NM_001378157:exon17:c.C1957G:p.Q653E,XRRA1:NM_182969:exon17:c.C1933G:p.Q645E	.	404	1116	2	0	0	2	0.000895255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0079	0.00898562	0.0021	0.0242	0.0010	0	0	3.001e-05	0	0	0.0019922	308	154602	rs76814368	0.0008	0.0008	0.0010	0.0006	0.0283	0.0008	0.0007	0.0268	0.0262	0.0283	0.0015	0	0	0	0.0015	1.799e-05	0.0018	1.16e-05	0.0078	0.0078	0.0081	0.0075	0.0269	0.0074	0.0073	0.0256	0.0251	0.0269	0	0.0029	0	0	0	0	5.882e-05	0.0076	0.0002	0.239	0.17761	T	0.166	0.32675	T	0.003	0.11197	B	0.002	0.06944	B	0.746933	0.09731	N	0.885835	0.999977	0.18612	N	0.345	0.11182	N	0.85	0.47477	T	-0.75	0.22294	N	0.173	0.19055	-1.0320	0.19809	T	0.030	0.12717	T	10	0.0027483702	0.00043	T	.	.	.	0.028	0.06331	.	.	0.146414634003	0.14194	0.10453585375580039	0.10383	0.046134700615	0.05010	0.259015291929	0.04774	T	0.002988	0.02391	T	-0.637843	0.00086	T	-0.668721	0.07690	T	0.00179090411417954	0.00018	T	0.0950905	0.00784	T	0.05813854	0.11661	0.07750799	0.17274	0.05813854	0.11660	0.07750799	0.17274	-2.328	0.04894	T	.	.	0.098	0.16054	B	.;.;.	.;.;.	0.528858	0.08976	5.757	0.92257041600877154	0.21638	0.26320	0.22959	N	AEFDBCI	0.135792	0.25625	N	-0.96260388273269	0.09411	0.445308	-0.835034139739382	0.13647	0.7091168	0.997705054035123	0.35927	0.460665	0.09802	0	0.550933	0.16991	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	5.0	1.94	0.25058	0.433000	0.21196	0.867000	0.22280	-0.858000	0.02657	0.013000	0.18845	0.017000	0.20586	0.735000	0.35267	0.0875:0.0:0.485:0.4275	6.225	0.19915	644	0.63734	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1221.33	34	chr11	74844254	.	G	C	1221.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.564;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=1.1;SOR=0.66	GT:AD:DP:GQ:PL	0/1:38,47:85:99:1235,0,1010	18	0	1	0
chr11	75851976	75851976	T	C	exonic	UVRAG	.	nonsynonymous SNV	UVRAG:NM_003369:exon2:c.T211C:p.C71R	.	.	.	.	.	.	.	.	.	.	.	2332431	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.273	0.0249458354824	0.0005	0.000798722	0.0002	0.0012	0.0005	0	0	7.496e-05	0	0	0.0002005	31	154602	rs141406262	0.0001	0.0001	9.682e-05	0.0001	0.0015	8.93e-05	8.413e-05	0.0011	0.0010	0.0015	0.0005	0	0	0	0.0002	5.584e-05	0.0002	1.165e-05	0.0005	0.0005	0.0003	0.0006	0.0014	0.0004	0.0004	0.0011	0.0010	0.0014	0	0.0004	0	0	0	0.0068	0.0001	0	0	0.021	0.49117	D	0.016	0.60972	D	0.999	0.77913	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	1.05	0.39990	T	-2.36	0.52128	N	0.926	0.93018	-0.6928	0.60778	T	0.225	0.58894	T	10	0.22265464	0.39023	T	0.024946	0.47933	T	0.273	0.58883	.	.	0.134007934775	0.12933	0.8719439630167302	0.87160	1.10976883986	0.78015	0.742980003357	0.73412	T	0.237872	0.60565	T	-0.0681115	0.41629	T	0.123219	0.78448	D	0.0296963262299213	0.01942	T	0.814119	0.46793	T	0.54357153	0.69596	0.50687534	0.71500	0.54357153	0.69597	0.50687534	0.71500	-3.941	0.22918	T	.	.	0.545	0.66588	A	.	.	5.048747	0.84074	28.2	0.99744890303452594	0.83778	0.93402	0.58121	D	AEFBI	0.783255	0.71429	D	0.732373999320106	0.81754	7.596928	0.743040099590349	0.85637	8.640151	0.999997377660451	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.631631	0.49550	0	.	.	6.06	6.06	0.98340	6.365000	0.73028	7.836000	0.70319	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	14.568	0.67780	684	0.59539	C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.010101	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	980.33	33	chr11	75851976	.	T	C	980.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.801;DP=726;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.046;SOR=0.58	GT:AD:DP:GQ:PL	0/1:47,46:93:99:994,0,1142	18	0	1	0
chr11	76496253	76496253	C	G	exonic	EMSY	.	nonsynonymous SNV	EMSY:NM_001300943:exon9:c.C1150G:p.L384V,EMSY:NM_020193:exon9:c.C1147G:p.L383V,EMSY:NM_001300942:exon10:c.C1192G:p.L398V,EMSY:NM_001300944:exon10:c.C1192G:p.L398V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.00453261117237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.56456	D	1.0	0.01155	T	0.997	0.70673	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.895	0.22405	L	.	.	.	-0.65	0.18877	N	0.564	0.71765	-0.7531	0.57773	T	0.280	0.65159	T	9	0.24627647	0.41889	T	0.004533	0.11157	T	0.251	0.56024	0.179	0.08626	0.161926535498	0.15789	0.24888415373398984	0.24802	1.06807590383	0.76700	.	.	.	0.047385	0.27706	T	0.160681	0.70264	D	-0.00696975	0.69883	D	0.726653091053459	0.42037	D	0.973803	0.91380	D	0.17019881	0.37581	0.21170264	0.45610	0.17019881	0.37581	0.21170264	0.45609	-8.834	0.66622	D	.	.	0.174	0.48807	B	.;.;.;.;.;.	.;.;.;.;.;.	4.457012	0.69330	25.4	0.99597549711436872	0.73983	0.98681	0.85513	D	AEFGBI	0.752831	0.69321	D	0.6031989030994	0.73378	5.956139	0.660773827867368	0.79417	7.077691	0.999999997739998	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.82	5.82	0.92740	7.156000	0.77041	7.656000	0.63963	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.109	0.97902	867	0.32089	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	170.3	139	chr11	76496253	.	C	G	170.3	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-2.783;DP=2046;ExcessHet=0.3672;FS=176.329;InbreedingCoeff=-0.1218;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=0.479;SOR=11.387	GT:AD:DP:GQ:PL	0/1:94,41:141:48:48,0,1346	14	0	3	2
chr11	78200178	78200178	T	C	exonic	USP35	.	nonsynonymous SNV	USP35:NM_020798:exon5:c.T982C:p.S328P	.	391	1130	1	0	0	1	0.000442282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	.	0.0037	0.00559105	0.0014	0.0157	0.0008	0	0	0	0	6.056e-05	0.001313	203	154602	rs115848453	0.0005	0.0005	0.0005	0.0004	0.0176	0.0004	0.0004	0.0164	0.0159	0.0176	0.0007	0	0	0	0.0014	3.597e-06	0.0008	4.637e-05	0.0044	0.0044	0.0048	0.0041	0.0156	0.0042	0.0041	0.0146	0.0142	0.0156	0	0.0013	0	0	0	0	5.881e-05	0.0028	0	0.51	0.47745	T	0.295	0.76473	T	0.963	0.55692	D	0.577	0.50090	P	0.016373	0.27995	N	0.253449	1	0.81001	D	1.61	0.41143	L	-0.34	0.68474	T	-0.08	0.14193	N	0.884	0.88246	-0.8764	0.50044	T	0.110	0.39723	T	10	0.007999897	0.00182	T	.	.	.	0.164	0.42212	.	.	0.682937691258	0.68023	0.6874874425379488	0.68688	0.103616128581	0.11724	0.713123500347	0.69046	T	0.006668	0.06097	T	-0.306589	0.08052	T	-0.200847	0.54566	T	0.0525235622650483	0.05937	T	0.912709	0.68911	D	0.26333392	0.49397	0.39942986	0.64507	0.26333392	0.49397	0.39942986	0.64507	-4.312	0.28344	T	.	.	0.302	0.66129	B	.;.;.	.;.;.	3.781226	0.54365	23.5	0.80581313775034991	0.13271	0.93172	0.57513	D	AEFDGBI	0.322053	0.42466	N	0.217164314146093	0.52031	3.379957	0.295603816860881	0.55281	3.691416	0.99970954172933	0.41986	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	2.079000	0.41201	3.976000	0.40865	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.827	0.69746	616	0.66398	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1602.33	34	chr11	78200178	.	T	C	1602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.356;DP=786;ExcessHet=0;FS=0.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-0.311;SOR=0.78	GT:AD:DP:GQ:PL	0/1:84,66:150:99:1616,0,2167	18	0	1	0
chr11	89968594	89968594	G	C	exonic	TRIM64	.	nonsynonymous SNV	TRIM64:NM_001136486:exon2:c.G91C:p.G31R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0018	0.0213	0	0	0	0	0	0	0.0001153	3	26028	rs540057745	0.0001	0.0002	8.32e-05	0.0001	0.0084	8.201e-05	7.357e-05	0.0064	0.0057	0.0084	0.0001	0	0	0	0	7.545e-06	0.0002	6.783e-05	0	9.336e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.001	0.83351	D	0.998	0.73220	D	0.993	0.81110	D	.	.	.	.	.	.	.	2.99	0.85699	M	.	.	.	.	.	.	0.494	0.52740	.	.	.	.	.	.	.	0.015367538	0.00322	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.04535406197180337	0.04479	.	.	0.738936662674	0.72816	T	0.668497	0.90134	D	-0.154041	0.27683	T	0.00732045	0.70809	D	.	.	.	0.946005	0.79398	D	0.093665734	0.22004	0.27284545	0.53199	0.093665734	0.22004	0.27284545	0.53198	-8.406	0.63805	D	.	.	0.527	0.65807	A	.	.	3.330979	0.45857	22.2	0.70554668525978792	0.09334	0.62111	0.31683	D	AEFI	.	.	.	.	.	.	.	.	.	6.60723711728495E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.132552	0.26023	1.72	1.72	0.23498	2.451000	0.44610	4.585000	0.43935	0.324000	0.19419	1.000000	0.71638	1.000000	0.68203	0.140000	0.19946	0.0:0.0:1.0:0.0	9.119	0.35939	856	0.34373	Zinc finger, C3HC4 RING-type|Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004902	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	108.17	45	chr11	89968594	.	G	C	108.17	.	AC=2;AF=0.083;AN=24;DP=342;ExcessHet=0;FS=0;InbreedingCoeff=0.9293;MLEAC=2;MLEAF=0.083;MQ=45.4;QD=30.15;SOR=2.833	GT:AD:DP:GQ:PL	1/1:0,3:3:9:126,9,0	11	1	0	7
chr11	92969763	92969763	C	T	exonic	MTNR1B	.	nonsynonymous SNV	MTNR1B:NM_005959:exon1:c.C38T:p.A13V	.	434	1079	9	0	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	0.00479233	0.0031	0	0.0001	0	0	6.763e-05	0.0021	0.0332	0.0021669	335	154602	rs377415898	0.0012	0.0012	0.0007	0.0017	0.0202	0.0011	0.0011	0.0193	0.0190	0	2.839e-05	0	2.858e-05	0	0.0009	1.226e-05	0.0012	0.0202	0.0006	0.0006	0.0003	0.0009	0.0185	0.0005	0.0005	0.0154	0.0142	2.405e-05	0	0	0	0	0	0.0034	0	0	0.0185	0.61	0.05468	T	0.395	0.15255	T	0.033	0.20350	B	0.004	0.10090	B	0.996923	0.07992	N	0.998364	1	0.08975	N	1.555	0.39373	L	-0.73	0.73100	T	-0.24	0.10833	N	0.166	0.17553	-0.9821	0.34515	T	0.174	0.51785	T	10	0.0037346184	0.00069	T	.	.	.	0.029	0.06676	.	.	0.604813161365	0.60165	0.5945592625864432	0.59385	0.15656143693	0.17672	0.565447151661	0.48035	T	0.062511	0.31935	T	-0.500718	0.00566	T	-0.475767	0.24897	T	0.0180812720496033	0.00531	T	0.642236	0.25428	T	0.024912335	0.01372	0.044776496	0.05876	0.024912335	0.01371	0.044776496	0.05875	-5.534	0.42185	T	.	.	0.112	0.21987	B	.	.	1.535091	0.19691	14.39	0.88003844708474355	0.17643	0.06508	0.12519	N	AEFDBHI	0.078349	0.15806	N	-0.987735893407713	0.08865	0.4173099	-1.00471132068037	0.09681	0.4830688	0.991392181199328	0.32474	0.455138	0.09556	0	0.563428	0.19063	0	0.606884	0.38211	0	0.530356	0.10902	0	.	.	4.19	1.76	0.23776	0.050000	0.14004	-1.254000	0.05898	-0.222000	0.07959	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.521:0.3038:0.1752	6.380	0.20733	803	0.44167	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006091	0.000000	0.002717	0.002924	0.000000	0.000000	0.003086	0.011364	0.02632	1220.33	33	chr11	92969763	.	C	T	1220.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.874;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=1.09;SOR=0.773	GT:AD:DP:GQ:PL	0/1:42,44:86:99:1234,0,1211	18	0	1	0
chr11	93415089	93415089	T	A	exonic	DEUP1	.	nonsynonymous SNV	DEUP1:NM_181645:exon13:c.T1613A:p.V538D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0056	0.0061901	0.0017	0.0190	0.0016	0	0	4.498e-05	0.0022	0	0.0016753	259	154602	rs192892352	0.0005	0.0005	0.0006	0.0005	0.0175	0.0005	0.0005	0.0164	0.0159	0.0175	0.0017	0	0	0	0.0005	1.982e-05	0.0013	1.171e-05	0.0059	0.0059	0.0059	0.0059	0.0194	0.0056	0.0055	0.0183	0.0178	0.0194	0	0.0048	0	0	0	0.0034	2.94e-05	0.0085	0	0.184	0.25873	T	0.091	0.40110	T	0.02	0.18235	B	0.023	0.19966	B	0.398723	0.04521	N	1.443640	0.999996	0.08975	N	1.79	0.46772	L	2.09	0.20122	T	-0.87	0.30140	N	0.403	0.44379	-1.0177	0.24463	T	0.016	0.06425	T	10	0.0036657453	0.00067	T	.	.	.	0.048	0.13305	.	.	0.104622674875	0.10061	0.2576660525795172	0.25680	0.0240295556062	0.02436	0.3212197721	0.13606	T	0.00221	0.19978	T	-0.563323	0.00242	T	-0.567015	0.15724	T	0.00682713037466728	0.00077	T	0.837116	0.50934	T	0.0958803	0.22573	0.07983601	0.18007	0.0958803	0.22573	0.07983601	0.18007	-2.714	0.07421	T	.	.	0.115	0.22861	B	.;.;.	.;.;.	-0.385061	0.02269	0.235	0.40091472388063659	0.02808	0.01070	0.03963	N	AEFIJ	0.042432	0.06582	N	-1.31278568280308	0.03528	0.1577521	-1.37305888609546	0.03541	0.1654103	8.57594770784085E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.73	-3.8	0.04025	-1.914000	0.01670	-0.486000	0.08890	-0.128000	0.13240	0.000000	0.06391	0.000000	0.08366	0.139000	0.19909	0.1127:0.2248:0.2836:0.3789	1.638	0.02580	390	0.83257	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	978.33	33	chr11	93415089	.	T	A	978.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.393;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.856;SOR=0.728	GT:AD:DP:GQ:PL	0/1:55,41:96:99:992,0,1466	18	0	1	0
chr11	94129374	94129374	C	G	exonic	PANX1	.	nonsynonymous SNV	PANX1:NM_015368:exon1:c.C62G:p.T21R	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00838094158356	.	0.00159744	0.0008	0	8.681e-05	0	0	0	0	0.0058	0.0006792	105	154602	rs558951523	0.0003	0.0003	0.0002	0.0005	0.0058	0.0003	0.0003	0.0053	0.0052	0	4.475e-05	0	0	0	0.0002	8.994e-07	0.0002	0.0058	0.0002	0.0002	8.993e-05	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	0	0.0005	0.0058	0.635	0.05076	T	0.502	0.11115	T	0.199	0.29618	B	0.03	0.27542	B	0.174421	0.17280	N	0.603639	0.510093	0.31812	D	0.915	0.23335	L	1.57	0.29342	T	-0.7	0.19933	N	0.088	0.06587	-1.0378	0.17985	T	0.039	0.16935	T	10	0.0034027994	0.00060	T	0.008381	0.22181	T	0.039	0.10176	0.232	0.16005	0.152612264143	0.14878	0.5145145739270857	0.51373	0.0949741167654	0.10722	0.426400989294	0.28717	T	0.047004	0.27593	T	-0.590842	0.00166	T	-0.61873	0.11285	T	0.0528781307209104	0.05999	T	0.70163	0.31127	T	0.19160259	0.40794	0.1102491	0.26582	0.19160259	0.40794	0.1102491	0.26581	-5.324	0.40180	T	.	.	0.146	0.32128	B	.;.	.;.	2.110383	0.26858	17.26	0.90757391932121845	0.20007	0.27073	0.23175	N	ALL	0.263208	0.38080	N	-0.891090224080159	0.11054	0.5313971	-0.771615162106367	0.15193	0.7977614	0.999999999999904	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.11	3.17	0.35510	0.722000	0.25595	3.725000	0.39599	-0.456000	0.05128	0.000000	0.06391	0.175000	0.23375	0.976000	0.56436	0.1666:0.8334:0.0:0.0	12.697	0.56376	698	0.58074	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	623.33	44	chr11	94129374	.	C	G	623.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=781;ExcessHet=0;FS=4.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=0.819;SOR=1	GT:AD:DP:GQ:PL	0/1:57,27:84:99:637,0,1408	18	0	1	0
chr11	94528131	94528131	G	A	exonic	C11orf97	.	nonsynonymous SNV	C11orf97:NM_001190462:exon3:c.G298A:p.G100S	.	438	944	131	9	0	149	0.0731468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107827	0.0327	0.0054	0.0106	0	0	0.0239	0.0379	0.0402	0.0043337	670	154602	rs12802057	0.0088	0.0084	0.0077	0.0099	0.0687	0.0087	0.0086	0.0631	0.0608	0.0066	0.0086	0.0279	0.0002	0.0008	0.0687	0.0062	0.0150	0.0377	0.0082	0.0082	0.0075	0.0090	0.0321	0.0079	0.0077	0.0280	0.0264	0.0056	0.0011	0.0098	0.0268	0.0002	0.0002	0.0442	0.0083	0.0194	0.0321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038235784	0.00072	T	.	.	.	.	.	.	.	.	.	0.09051444811491477	0.08984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.520648	0.16939	T	0.046739276	0.07874	0.13153316	0.31583	0.046739276	0.07874	0.13153316	0.31582	-3.12	0.11527	T	.	.	0.066	0.02228	B	.	.	1.111347	0.14965	11.48	0.78473321330434909	0.12316	0.48366	0.28191	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929341479701201	0.26965	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.340229	0.35942	5.56	0.771	0.17648	0.488000	0.22080	0.510000	0.19072	0.654000	0.53741	0.995000	0.38783	0.969000	0.29651	0.948000	0.49324	0.3869:0.0:0.6131:0.0	9.309	0.37057	859	0.33891	.	.	.	.	.	rs12802057	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.060317	0.046667	0.130952	0.086420	0.000000	0.000000	0.047945	0.121622	0.05263	3973.83	38	chr11	94528131	.	G	A	3973.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.08;DP=991;ExcessHet=0.119;FS=3.861;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=1.75;SOR=0.934	GT:AD:DP:GQ:PL	0/1:75,76:151:99:2056,0,1931	17	0	2	0
chr11	94593554	94593554	A	G	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon9:c.A1063G:p.M355V	.	436	1043	42	1	0	44	0.0206573	.	.	.	702038	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.117	.	0.0067	0.00459265	0.0047	0.0129	0.0055	0	0.0003	0.0037	0.0088	0.0074	0.004586	709	154602	rs34492831	0.0039	0.0039	0.0037	0.0041	0.0189	0.0038	0.0037	0.0160	0.0150	0.0120	0.0049	0.0040	2.519e-05	0.0003	0.0189	0.0033	0.0059	0.0089	0.0061	0.0061	0.0060	0.0061	0.0129	0.0058	0.0056	0.0120	0.0116	0.0129	0.0011	0.0048	0.0032	0	0	0.0068	0.0036	0.0118	0.0066	0.791	0.03192	T	0.474	0.12107	T	0.0	0.02946	B	0.001	0.04355	B	0.087059	0.20554	N	0.422160	0.999746	0.20516	N	0.25	0.09762	N	2.62	0.12988	T	-0.62	0.18248	N	0.072	0.04547	-0.9581	0.39534	T	0.008	0.02884	T	10	0.008027405	0.00182	T	.	.	.	0.117	0.32689	.	.	0.15556083564	0.15200	0.33646312682960244	0.33559	0.292844032975	0.31705	0.303213775158	0.10881	T	0.049508	0.28327	T	-0.733065	0.00023	T	-0.814097	0.01575	T	0.000791278126423152	0.00007	T	0.668933	0.27772	T	0.054207113	0.10369	0.08011389	0.18094	0.054207113	0.10369	0.08011389	0.18093	-4.999	0.36829	T	.	.	0.050	0.00136	B	.	.	0.207442	0.05916	2.354	0.53700198470870886	0.04991	0.01050	0.03913	N	AEFI	0.025181	0.01684	N	-1.02090349749187	0.08170	0.3821699	-0.986236603951907	0.10094	0.5062335	0.74418407930807	0.23259	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.77	-0.778	0.10423	-0.376000	0.07522	1.074000	0.23831	-0.582000	0.04700	0.000000	0.06391	0.254000	0.23938	0.559000	0.30388	0.7495:0.0:0.2505:0.0	8.814	0.34144	793	0.45818	PAZ domain|PAZ domain|PAZ 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	0.016616	0.020202	0.016304	0.023392	0.000000	0.000000	0.024390	0.022727	0.02632	1480.33	38	chr11	94593554	.	A	G	1480.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=837;ExcessHet=0;FS=3.611;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.92;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,41:110:99:0|1:94593544_G_A:1494,0,2741:94593544	18	0	1	0
chr11	104887276	104887276	C	T	exonic	CASP12	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	3199217	CASP12-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.119	0.0362342575953	.	0.000798722	0.0001	0.0018	0	0	0	0	0	0.0001	8.41e-05	13	154602	rs146027803	0.0001	0.0001	0.0001	9.376e-05	0.0037	0.0001	9.472e-05	0.0031	0.0029	0.0037	0.0004	0	0.0001	0	0	9.381e-07	0.0004	3.956e-05	0.0013	0.0013	0.0013	0.0013	0.0043	0.0011	0.0011	0.0038	0.0036	0.0043	0	0.0005	0	0	0	0	0	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999464	0.81001	D	.	.	.	.	.	.	.	.	.	0.747	0.74644	-0.2922	0.75204	T	0.268	0.63960	T	10	0.033200294	0.01490	T	0.036234	0.56862	D	0.300	0.62068	.	.	0.0666544352282	0.05500	.	.	0.149884323032	0.16908	0.437442570925	0.30228	T	.	.	.	-0.130182	0.31467	T	0.0414553	0.73022	D	0.199674361160327	0.20398	T	0.940606	0.77652	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32851	B	.	.	2.929478	0.38917	20.8	0.99626865327597536	0.75776	0.48195	0.28152	N	AEFI	0.421860	0.48810	N	0.1011501266012	0.46517	2.890801	-0.0387076077146675	0.37982	2.231443	0.987469915027173	0.31271	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.31	4.31	0.50718	3.094000	0.49919	4.589000	0.43950	0.599000	0.40250	0.166000	0.23880	0.976000	0.30059	0.011000	0.09372	0.0:1.0:0.0:0.0	14.664	0.68504	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1176.33	33	chr11	104887276	.	C	T	1176.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.834;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=0.587;SOR=0.703	GT:AD:DP:GQ:PL	0/1:69,51:120:99:1190,0,1678	18	0	1	0
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P,MSANTD4:NM_001318748:exon2:c.G259C:p.A87P,MSANTD4:NM_001318749:exon2:c.G259C:p.A87P,MSANTD4:NM_001318750:exon2:c.G259C:p.A87P,MSANTD4:NM_032424:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	3117.7	222	chr11	106010659	.	C	G	3117.7	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-4.746;DP=2726;ExcessHet=6.9875;FS=256.706;InbreedingCoeff=-0.5491;MLEAC=6;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.03;ReadPosRankSum=1.72;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,46:158:99:.:.:1217,0,4255:.	7	0	5	7
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4545	3929.56	223	chr11	106010660	.	C	G	3929.56	.	AC=10;AF=0.455;AN=22;BaseQRankSum=-2.836;DP=2688;ExcessHet=6.9875;FS=275.458;InbreedingCoeff=-0.5813;MLEAC=13;MLEAF=0.591;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=1.63;SOR=11.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,65:171:99:0|1:106010660_C_G:1352,0,3171:106010660	1	0	10	8
chr11	106010663	106010663	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255C:p.M85I,MSANTD4:NM_001318748:exon2:c.G255C:p.M85I,MSANTD4:NM_001318749:exon2:c.G255C:p.M85I,MSANTD4:NM_001318750:exon2:c.G255C:p.M85I,MSANTD4:NM_032424:exon2:c.G255C:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0028274219259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.905747	0.36282	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9883	0.33027	T	0.104	0.38218	T	9	0.11421201	0.21482	T	0.002827	0.05927	T	0.043	0.11576	0.294	0.25720	0.256793551483	0.25290	0.12417172391841125	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923564	0.37687	T	-0.37044	0.36836	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.013320	0.40302	21.1	0.9790952007803857	0.36801	0.97322	0.74021	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1364	1642.33	203	chr11	106010663	.	C	G	1642.33	.	AC=3;AF=0.136;AN=22;BaseQRankSum=-4.095;DP=2463;ExcessHet=0.3672;FS=251.882;InbreedingCoeff=-0.2258;MLEAC=4;MLEAF=0.182;MQ=60;MQRankSum=0;QD=3.73;ReadPosRankSum=2.04;SOR=9.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,47:168:99:0|1:106010660_C_G:622,0,4397:106010660	8	0	3	8
chr11	106010664	106010664	A	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.T254C:p.M85T,MSANTD4:NM_001318748:exon2:c.T254C:p.M85T,MSANTD4:NM_001318749:exon2:c.T254C:p.M85T,MSANTD4:NM_001318750:exon2:c.T254C:p.M85T,MSANTD4:NM_032424:exon2:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00433488665054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.369e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.019	0.69154	D	0.007	0.14184	B	0.034	0.22546	B	0.000001	0.84330	D	0.055431	0.974346	0.39097	D	0	0.06538	N	.	.	.	-0.98	0.25986	N	0.258	0.29197	-0.9720	0.36776	T	0.117	0.41209	T	9	0.18700442	0.34192	T	0.004335	0.10529	T	0.101	0.28911	0.307	0.27806	0.379881503574	0.37595	0.25955710480305316	0.25869	0.399169766946	0.40951	0.666570842266	0.62349	T	0.035133	0.23597	T	0.00410563	0.52221	T	-0.231879	0.51589	T	0.783289670944214	0.45256	D	0.79692	0.44048	T	0.42211768	0.62233	0.30941108	0.56956	0.42211768	0.62233	0.30941108	0.56955	-1.765	0.02407	T	.	.	0.407	0.59964	A	.;.;.	.;.;.	3.510524	0.49159	22.7	0.97899140483582825	0.36731	0.98220	0.80657	D	AEFGBI	0.640959	0.61847	D	-0.0622681486623968	0.39056	2.297149	0.183205801398182	0.48926	3.102239	0.999999972724126	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	6.214000	0.72143	11.169000	0.87908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.275	0.82465	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1643.52	203	chr11	106010664	.	A	G	1643.52	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-1.742;DP=2434;ExcessHet=0.3672;FS=249.098;InbreedingCoeff=-0.2683;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.73;ReadPosRankSum=2.14;SOR=9.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,47:168:99:0|1:106010660_C_G:622,0,4397:106010660	6	0	3	10
chr11	107439126	107439126	G	T	exonic	CWF19L2	.	nonsynonymous SNV	CWF19L2:NM_152434:exon6:c.C628A:p.P210T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	.	0.0066	0.00658946	0.0021	0.0226	0.0012	0	0	0	0.0024	6.894e-05	0.001824	282	154602	rs608634	0.0006	0.0006	0.0007	0.0005	0.0208	0.0005	0.0005	0.0196	0.0190	0.0208	0.0009	0	0	0	0.0005	6.316e-06	0.0014	0.0001	0.0052	0.0052	0.0053	0.0051	0.0180	0.0049	0.0048	0.0169	0.0165	0.0180	0	0.0025	0	0	0	0	0	0.0043	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999863	0.50061	D	2.965	0.85198	M	2.01	0.21291	T	-4.78	0.80510	D	0.628	0.64223	-0.8311	0.53231	T	0.104	0.38316	T	10	0.008489549	0.00192	T	.	.	.	0.399	0.71321	.	.	0.540835050783	0.53735	0.3401947053512284	0.33932	0.117737145212	0.13261	0.533866941929	0.43580	T	0.069748	0.33786	T	-0.31253	0.07527	T	-0.204785	0.54193	T	0.0607051904911149	0.07279	T	0.941006	0.77964	D	0.7571886	0.81288	0.6281088	0.78313	0.7571886	0.81289	0.6281088	0.78314	-9.898	0.73298	D	.	.	0.736	0.74447	P	.	.	4.624411	0.73463	26.0	0.99748428553001867	0.84077	0.98668	0.85355	D	AEFBI	0.804119	0.72907	D	0.937852763014062	0.93487	12.07199	0.894057597333644	0.95310	13.50061	0.997267986236029	0.35436	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.75	5.75	0.90390	7.628000	0.82379	11.286000	0.91899	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.862000	0.40904	0.0:0.0:1.0:0.0	18.945	0.92591	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.002924	0.000000	0.017241	0.000000	0.000000	0.02632	425.33	30	chr11	107439126	.	G	T	425.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.706;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.717;SOR=0.784	GT:AD:DP:GQ:PL	0/1:22,21:43:99:439,0,552	18	0	1	0
chr11	113803210	113803210	C	T	exonic	USP28	.	nonsynonymous SNV	USP28:NM_001346268:exon19:c.G1811A:p.R604H,USP28:NM_001301029:exon20:c.G2339A:p.R780H,USP28:NM_001346259:exon21:c.G2636A:p.R879H,USP28:NM_001346260:exon21:c.G2438A:p.R813H,USP28:NM_001346261:exon21:c.G2435A:p.R812H,USP28:NM_001346262:exon21:c.G2339A:p.R780H,USP28:NM_001346267:exon21:c.G1811A:p.R604H,USP28:NM_001346272:exon21:c.G1658A:p.R553H,USP28:NM_001346257:exon22:c.G2732A:p.R911H,USP28:NM_001346258:exon22:c.G2714A:p.R905H,USP28:NM_001346264:exon22:c.G1997A:p.R666H,USP28:NM_001346269:exon22:c.G1754A:p.R585H,USP28:NM_001346253:exon23:c.G2918A:p.R973H,USP28:NM_001346254:exon23:c.G2813A:p.R938H,USP28:NM_001346263:exon23:c.G2135A:p.R712H,USP28:NM_020886:exon23:c.G2810A:p.R937H,USP28:NM_001346252:exon24:c.G2996A:p.R999H,USP28:NM_001346255:exon24:c.G2801A:p.R934H,USP28:NM_001346271:exon24:c.G1754A:p.R585H,USP28:NM_001346265:exon25:c.G1940A:p.R647H,USP28:NM_001346270:exon25:c.G1754A:p.R585H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00759026409893	.	.	2.481e-05	0	0	0	0	4.518e-05	0	0	1.94e-05	3	154602	rs772711679	7.525e-06	7.524e-06	1.225e-05	2.75e-06	2.519e-05	4.04e-06	2.95e-06	2.62e-06	1.68e-06	0	0	0	2.519e-05	3.744e-05	0	6.295e-06	0	1.16e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.829e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.829e-05	0	0	0	0	0	0	0	0	0	0.574	0.14207	T	0.164	0.31026	T	0.003	0.19556	B	0.002	0.11217	B	0.008594	0.30766	N	0.387157	1	0.08975	N	0.345	0.11182	N	1.52	0.43672	T	0.16	0.05217	N	0.334	0.45047	-1.0489	0.14705	T	0.051	0.21650	T	10	0.04018125	0.02566	T	0.00759	0.20139	T	0.016	0.02506	0.379	0.39482	0.362960570912	0.35913	0.11083709353724526	0.11012	0.296746577044	0.32059	0.27142482996	0.06327	T	0.020378	0.16057	T	-0.372025	0.03493	T	-0.590636	0.13610	T	0.113385209440588	0.13771	T	0.772623	0.52235	T	0.028114174	0.02100	0.023605624	0.00374	0.028114174	0.02099	0.023605624	0.00374	-6.079	0.46936	T	.	.	0.069	0.03266	B	.;.;.	.;.;.	2.969639	0.39573	21.0	0.985348896130118	0.42645	0.06736	0.12758	N	AEFDBI	0.051730	0.09168	N	-0.614950813816937	0.18495	0.9606371	-0.473690968939052	0.22882	1.245046	0.179903681887063	0.17856	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.28	3.43	0.38372	0.291000	0.18748	1.062000	0.23729	0.599000	0.40250	0.036000	0.20778	0.997000	0.33255	0.899000	0.43558	0.0:0.7004:0.0:0.2996	8.028	0.29609	615	0.66512	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1188.33	33	chr11	113803210	.	C	T	1188.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=743;ExcessHet=0;FS=3.312;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.013;SOR=0.58	GT:AD:DP:GQ:PL	0/1:68,54:122:99:1202,0,1412	18	0	1	0
chr11	116821087	116821087	T	C	exonic	APOA4	.	nonsynonymous SNV	APOA4:NM_000482:exon3:c.A971G:p.Q324R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0715158976929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs977366818	1.779e-05	1.847e-05	1.497e-05	2.063e-05	6.708e-05	1.237e-05	1.051e-05	1.779e-05	9.55e-06	0	6.708e-05	0	0	0	0	1.799e-05	3.311e-05	1.159e-05	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.01	0.56456	D	0.25	0.23707	T	.	.	.	.	.	.	0.262827	0.15280	N	0.640446	0.997115	0.22786	N	.	.	.	-0.85	0.74371	T	-1.45	0.35597	N	0.126	0.11912	-0.7457	0.58159	T	0.282	0.65428	T	10	0.25124267	0.42461	T	0.071516	0.71288	D	0.087	0.25287	0.297	0.26202	0.507213507908	0.50361	0.08287507691467023	0.08222	0.0875372861277	0.09878	0.258933782578	0.04764	T	.	.	.	-0.209656	0.19426	T	-0.456067	0.27028	T	0.283807039260864	0.24331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25034	B	.	.	1.510139	0.19401	14.24	0.97072547584946656	0.32243	0.48842	0.28298	N	AEFDBI	0.575733	0.57801	D	-0.448131298307671	0.23804	1.280881	-0.527837713495458	0.21398	1.157409	0.999472445079993	0.39898	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.39	1.8	0.24069	1.440000	0.34634	1.690000	0.28065	-0.123000	0.13640	0.008000	0.17931	0.225000	0.23742	0.023000	0.12082	0.0:0.1469:0.138:0.7151	6.101	0.19271	492	0.76569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3904.33	204	chr11	116821087	.	T	C	3904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.951;DP=2116;ExcessHet=0;FS=0.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-1.372;SOR=0.743	GT:AD:DP:GQ:PL	0/1:184,162:346:99:3918,0,4790	18	0	1	0
chr11	126005946	126005946	G	A	exonic	CDON	.	nonsynonymous SNV	CDON:NM_001243597:exon9:c.C1664T:p.P555L,CDON:NM_001378964:exon9:c.C1664T:p.P555L,CDON:NM_016952:exon9:c.C1664T:p.P555L	Holoprosencephaly 11, Autosomal dominant, Isolated cases	.	.	.	.	.	.	.	.	.	.	1411527	Holoprosencephaly_11	MONDO:MONDO:0013642,MedGen:C3280215,OMIM:614226,Orphanet:2162	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.306	0.0190611980934	7.7e-05	.	9.08e-05	0	0.0002	0	0	0.0001	0	6.06e-05	7.12e-05	11	154602	rs143213791	4.857e-05	4.857e-05	5.037e-05	4.675e-05	0.0001	3.926e-05	3.604e-05	5.804e-05	4.042e-05	8.961e-05	0.0001	0	5.039e-05	0	0	4.317e-05	4.967e-05	0.0001	2.63e-05	2.627e-05	2.571e-05	2.692e-05	7.246e-05	8.15e-06	5.14e-06	1.921e-05	1.032e-05	7.246e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	0.959	0.58310	D	0.359	0.43123	B	0.000059	0.53742	D	0.000000	0.997592	0.44019	D	2.6	0.76081	M	-0.43	0.69657	T	-2.89	0.60827	D	0.444	0.48227	-0.6381	0.63226	T	0.248	0.61681	T	10	0.39939043	0.55459	T	0.019061	0.41318	T	0.306	0.62729	.	.	0.796847187164	0.79495	0.50956905117545	0.50878	0.43967976743	0.43992	0.398383170366	0.24843	T	0.559303	0.85219	D	-0.154408	0.27624	T	-0.190273	0.55564	T	0.570356547832489	0.35248	D	0.755224	0.37818	T	0.1643675	0.36640	0.1840921	0.41440	0.1643675	0.36639	0.1840921	0.41439	-5.708	0.43924	T	0.18866542291941368	0.24649	0.224	0.51540	B	.;.	.;.	2.612221	0.33929	19.48	0.99577732839898658	0.72802	0.92154	0.55065	D	AEFBI	0.251741	0.37156	N	0.107038755894381	0.46790	2.914	0.0489468271934641	0.42019	2.534454	0.76321816655824	0.23545	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	6.03	5.13	0.69729	3.133000	0.50225	1.952000	0.29891	0.676000	0.76740	0.998000	0.41325	0.982000	0.30508	0.014000	0.10232	0.0678:0.0:0.7968:0.1354	10.188	0.42186	870	0.31527	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1756.33	34	chr11	126005946	.	G	A	1756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.053;DP=767;ExcessHet=0;FS=1.32;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=1.06;SOR=0.584	GT:AD:DP:GQ:PL	0/1:69,71:140:99:1770,0,1790	18	0	1	0
chr11	126277604	126277604	G	A	exonic	FOXRED1	.	nonsynonymous SNV	FOXRED1:NM_017547:exon11:c.G1376A:p.G459D	Leigh syndrome due to mitochondrial complex I deficiency, Autosomal recessive, Mitochondrial;Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.640	0.310525627567	.	.	4.162e-05	0	0	0	0	1.521e-05	0	0.0002	3.23e-05	5	154602	rs771056060	2.395e-05	2.394e-05	9.531e-06	3.852e-05	0.0003	1.739e-05	1.539e-05	0.0002	0.0002	0	0	0	0	0	0.0002	4.497e-06	1.656e-05	0.0003	1.314e-05	1.313e-05	1.284e-05	1.344e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.031	0.45039	D	0.059	0.45961	T	0.939	0.55854	P	0.38	0.59784	B	0.000000	0.84330	D	0.048268	1	0.81001	D	3.31	0.90591	M	-2.29	0.87591	D	-4.5	0.79915	D	0.562	0.62273	0.738	0.93640	D	0.803	0.93326	D	10	0.6563709	0.69897	D	0.310526	0.91170	D	0.640	0.86283	0.52	0.62217	0.874533139501	0.87330	0.9415130670729526	0.94132	0.373452143324	0.38813	0.536688566208	0.43978	T	0.145485	0.48264	T	0.071971	0.61088	D	0.125284	0.78583	D	0.687136054039001	0.40115	D	0.846715	0.52677	T	0.6646964	0.76150	0.66096354	0.80134	0.6646964	0.76151	0.66096354	0.80135	-5.617	0.45281	T	0.2988502335461535	0.39607	0.180	0.46505	B	.;.	.;.	3.617607	0.51181	23.1	0.99754818575409965	0.84537	0.94278	0.60659	D	AEFDBHCI	0.799295	0.72560	D	0.464121441844759	0.65008	4.768794	0.374590065066587	0.60001	4.183226	0.999999999999999	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	5.654000	0.67646	9.904000	0.82373	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.316000	0.24877	0.0:0.0:1.0:0.0	19.117	0.93327	776	0.48302	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2208.33	36	chr11	126277604	.	G	A	2208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.797;DP=830;ExcessHet=0;FS=0.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=2.12;SOR=0.759	GT:AD:DP:GQ:PL	0/1:89,90:179:99:2222,0,2435	18	0	1	0
chr11	129869651	129869651	T	C	exonic	NFRKB	.	nonsynonymous SNV	NFRKB:NM_006165:exon22:c.A3449G:p.H1150R,NFRKB:NM_001143835:exon24:c.A3374G:p.H1125R	.	430	1072	20	0	0	20	0.00924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	0.0058	0.00359425	0.0063	0.0008	0.0038	0	0.0005	0.0067	0.0055	0.0155	0.0061125	945	154602	rs143202036	0.0066	0.0066	0.0063	0.0069	0.0155	0.0065	0.0064	0.0148	0.0145	0.0005	0.0029	0.0093	2.519e-05	0.0010	0.0042	0.0067	0.0064	0.0155	0.0046	0.0046	0.0047	0.0044	0.0164	0.0043	0.0042	0.0135	0.0124	0.0008	0.0164	0.0019	0.0084	0.0002	0.0010	0.0068	0.0071	0.0062	0.0164	0.01	0.57480	D	0.508	0.10893	T	0.396	0.37720	B	0.188	0.42645	B	0.006808	0.31785	N	0.335919	0.949579	0.37658	D	0.55	0.14455	N	.	.	.	-0.42	0.14193	N	0.463	0.50146	-0.9703	0.37136	T	0.091	0.34928	T	9	0.0060894787	0.00137	T	.	.	.	0.049	0.13647	.	.	0.206203607746	0.20212	0.28339736818455324	0.28252	1.11301743458	0.78100	0.608667194843	0.54127	T	0.050658	0.28658	T	-0.342275	0.05232	T	-0.252755	0.49545	T	0.0142478194160461	0.00282	T	0.849515	0.53247	T	0.06090459	0.12551	0.079372644	0.17862	0.06090459	0.12551	0.079372644	0.17861	-1.752	0.02370	T	.	.	0.129	0.28948	B	.;.;.	.;.;.	3.256655	0.44521	22.0	0.98687578020027289	0.44709	0.97844	0.77553	D	AEFDBI	0.154217	0.27921	N	0.101069758424067	0.46512	2.890484	0.215569261615967	0.50710	3.260317	0.996963282248949	0.35156	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	4.647000	0.61115	7.937000	0.75328	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.1389:0.0:0.0:0.8611	11.058	0.47145	824	0.40336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.006793	0.002924	0.000000	0.000000	0.009146	0.022727	0.02632	2003.33	34	chr11	129869651	.	T	C	2003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.422;DP=848;ExcessHet=0;FS=3.22;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=0.775;SOR=0.947	GT:AD:DP:GQ:PL	0/1:122,83:205:99:2017,0,3445	18	0	1	0
chr12	2115283	2115283	G	A	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_000719:exon2:c.G109A:p.G37R,CACNA1C:NM_001129827:exon2:c.G109A:p.G37R,CACNA1C:NM_001129829:exon2:c.G109A:p.G37R,CACNA1C:NM_001129830:exon2:c.G109A:p.G37R,CACNA1C:NM_001129831:exon2:c.G109A:p.G37R,CACNA1C:NM_001129832:exon2:c.G109A:p.G37R,CACNA1C:NM_001129833:exon2:c.G109A:p.G37R,CACNA1C:NM_001129834:exon2:c.G109A:p.G37R,CACNA1C:NM_001129835:exon2:c.G109A:p.G37R,CACNA1C:NM_001129836:exon2:c.G109A:p.G37R,CACNA1C:NM_001129837:exon2:c.G109A:p.G37R,CACNA1C:NM_001129838:exon2:c.G109A:p.G37R,CACNA1C:NM_001129839:exon2:c.G109A:p.G37R,CACNA1C:NM_001129840:exon2:c.G109A:p.G37R,CACNA1C:NM_001129841:exon2:c.G109A:p.G37R,CACNA1C:NM_001129842:exon2:c.G109A:p.G37R,CACNA1C:NM_001129843:exon2:c.G109A:p.G37R,CACNA1C:NM_001129844:exon2:c.G109A:p.G37R,CACNA1C:NM_001129846:exon2:c.G109A:p.G37R,CACNA1C:NM_001167623:exon2:c.G109A:p.G37R,CACNA1C:NM_001167624:exon2:c.G109A:p.G37R,CACNA1C:NM_001167625:exon2:c.G109A:p.G37R,CACNA1C:NM_199460:exon2:c.G109A:p.G37R	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	99298	not_provided|Long_QT_syndrome|Timothy_syndrome|Brugada_syndrome_3|Long_qt_syndrome_8|Cardiovascular_phenotype|not_specified|CACNA1C-related_disorder	MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0010979,MeSH:C536962,MedGen:C1832916,OMIM:601005,Orphanet:65283|MONDO:MONDO:0012742,MedGen:C2678478,OMIM:611875,Orphanet:130|MONDO:MONDO:0032756,MedGen:CN260585,OMIM:618447|MedGen:CN230736|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.655	.	0.0023	0.000399361	0.0074	0.0012	0.0029	0	0.0138	0.0117	0.0085	0.0003	0.0031112	481	154602	rs34534613	0.0040	0.0040	0.0041	0.0040	0.0045	0.0039	0.0039	0.0044	0.0044	0.0005	0.0021	0.0012	0	0.0095	0.0021	0.0045	0.0030	0.0004	0.0033	0.0033	0.0033	0.0032	0.0046	0.0030	0.0030	0.0042	0.0041	0.0009	0	0.0020	0.0017	0	0.0094	0	0.0046	0.0038	0.0006	0.0	0.91255	D	0.0	0.92824	D	0.999	0.90584	D	0.967	0.92359	D	0.135284	0.18486	N	0.513281	1	0.81001	D	1.445	0.36358	L	-3.84	0.95953	D	-6.57	0.91912	D	0.762	0.84713	0.998	0.97153	D	0.903	0.96775	D	10	0.011658281	0.00254	T	.	.	.	0.655	0.87035	0.365	0.37199	0.982930901542	0.98275	0.7641679914172304	0.76364	1.95920376204	0.93432	0.863642573357	0.91647	D	0.057648	0.33047	T	0.149164	0.69190	D	0.446615	0.93494	D	0.0352199957162357	0.02846	T	.	.	.	.	.	.	.	.	.	.	.	-4.74	0.33884	T	.	.	0.942	0.86088	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.940665	0.81535	27.6	0.99924626237331449	0.98980	0.99853	0.99842	D	AEFDBI	0.966063	0.98845	D	0.635900726724593	0.75460	6.309638	0.605399473608799	0.75332	6.291744	0.999999999999953	0.74766	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.77	5.77	0.91077	9.757000	0.98114	11.800000	0.96626	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.228000	0.22680	0.0:0.0:1.0:0.0	19.979	0.97318	880	0.29376	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1566.33	34	chr12	2115283	.	G	A	1566.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=739;ExcessHet=0;FS=1.503;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.257;SOR=0.55	GT:AD:DP:GQ:PL	0/1:59,56:115:99:1580,0,1599	18	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	3193.35	94	chr12	4591261	.	G	C	3193.35	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.805;DP=1547;ExcessHet=17.0548;FS=274.024;InbreedingCoeff=-0.5842;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=2.94;ReadPosRankSum=1.24;SOR=12.301	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,34:92:99:.:.:345,0,666:.	5	0	14	0
chr12	4772572	4772572	A	G	exonic	GALNT8	.	nonsynonymous SNV	GALNT8:NM_017417:exon11:c.A1889G:p.D630G	.	428	1080	14	0	0	14	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.0229357241757	0.0005	0.000399361	0.0015	9.617e-05	0.0011	0	0.0002	0.0012	0.0066	0.0049	0.0012807	198	154602	rs16931692	0.0009	0.0009	0.0006	0.0011	0.0060	0.0008	0.0008	0.0046	0.0044	8.961e-05	0.0011	0.0016	0	0.0004	0.0060	0.0006	0.0011	0.0050	0.0007	0.0007	0.0006	0.0007	0.0031	0.0006	0.0005	0.0019	0.0016	0.0002	0	0.0013	0.0017	0	0.0004	0.0034	0.0007	0.0009	0.0031	0.018	0.50676	D	0.043	0.49942	D	0.146	0.27821	B	0.038	0.23361	B	0.297485	0.03934	N	1.565220	0.999996	0.08975	N	1.1	0.28011	L	0.53	0.55090	T	-1.46	0.35792	N	0.098	0.07949	-1.0423	0.16621	T	0.096	0.36055	T	10	0.016783774	0.00355	T	0.022936	0.45870	T	0.011	0.01250	.	.	0.3085936734	0.30458	0.34497380515137493	0.34411	0.123760321579	0.13926	0.297297388315	0.09998	T	0.002731	0.02125	T	-0.519147	0.00445	T	-0.517404	0.20559	T	0.011571435639183	0.00175	T	0.40256	0.10281	T	0.09416991	0.22135	0.08650799	0.20048	0.09416991	0.22134	0.08650799	0.20048	-2.684	0.07170	T	.	.	0.297	0.52784	B	.;.	.;.	0.886887	0.12600	9.129	0.97037121622427391	0.32093	0.05499	0.11386	N	AEFDGBI	0.059337	0.11199	N	-0.909165914732136	0.10627	0.5087249	-0.927687417280739	0.11442	0.5829333	0.0131371476669435	0.12421	0.553676	0.25195	0	0.588015	0.36545	0	0.49644	0.08281	0	0.542086	0.14980	0	.	.	4.23	1.83	0.24279	0.190000	0.16864	0.104000	0.14688	0.756000	0.94297	0.018000	0.19461	0.000000	0.08366	0.028000	0.12845	0.6801:0.2104:0.1096:0.0	4.125	0.09590	793	0.45818	.;Ricin B, lectin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.008621	0.009146	0.000000	0.05263	7143.83	43	chr12	4772572	.	A	G	7143.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.5;DP=1078;ExcessHet=0.119;FS=1.753;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=0.883;SOR=0.861	GT:AD:DP:GQ:PL	0/1:87,107:194:99:2916,0,2410	17	0	2	0
chr12	6578526	6578526	C	G	exonic	CHD4	.	nonsynonymous SNV	CHD4:NM_001297553:exon34:c.G4981C:p.E1661Q,CHD4:NM_001273:exon35:c.G5002C:p.E1668Q,CHD4:NM_001363606:exon35:c.G4969C:p.E1657Q	Sifrim-Hitz-Weiss syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1038175	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	0.0141837589628	.	0.000798722	0.0005	9.899e-05	8.693e-05	0	0	0	0	0.0034	0.0003946	61	154602	rs201047688	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0029	0	0	0	2.521e-05	0	0	9e-07	0.0002	0.0033	0.0001	0.0001	5.142e-05	0.0002	0.0039	8.168e-05	6.724e-05	0.0026	0.0021	0	0	0	0	0	0	0	0	0	0.0039	0.382	0.11120	T	0.219	0.25987	T	0.0	0.02946	B	0.001	0.04355	B	0.111597	0.19393	N	0.541939	0.723437	0.29900	N	1.67	0.42885	L	-2.71	0.90566	D	-1.0	0.26422	N	0.209	0.23253	-0.3659	0.73086	T	0.571	0.84481	D	10	0.0061585605	0.00139	T	0.014184	0.34122	T	0.183	0.45592	0.136	0.04008	0.58681671947	0.58357	0.2664334229836858	0.26556	0.0398787629884	0.04262	0.465456843376	0.34058	T	0.059243	0.63350	T	-0.334659	0.05767	T	-0.255281	0.49294	T	0.0575907398562265	0.06784	T	0.847115	0.59601	T	0.07177996	0.15916	0.056539614	0.10120	0.085492894	0.19832	0.06796307	0.14129	-6.444	0.50140	T	0.2271810084724772	0.30710	0.164	0.38977	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.221084	0.63852	24.6	0.99236485321950463	0.56405	0.94689	0.61993	D	AEFBCI	0.452206	0.50586	N	-0.0378795881618971	0.40145	2.379194	0.147338129590966	0.47001	2.937037	0.998874183194677	0.37868	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	4.009000	0.56822	7.554000	0.60334	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.0:0.8797:0.0:0.1203	10.289	0.42764	377	0.83897	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1222.33	34	chr12	6578526	.	C	G	1222.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.489;DP=704;ExcessHet=0;FS=4.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.099;SOR=0.368	GT:AD:DP:GQ:PL	0/1:38,46:84:99:1236,0,980	18	0	1	0
chr12	7306539	7306539	G	A	exonic	ACSM4	.	nonsynonymous SNV	ACSM4:NM_001080454:exon2:c.G208A:p.E70K	.	425	1091	5	1	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00553647566486	.	0.000399361	0.0013	0	0	0	0	0	0.0027	0.0062	0.000401	62	154602	rs374650478	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0043	0	0	0	0	0	0.0002	9.078e-07	0.0004	0.0048	0.0002	0.0002	0.0001	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	2.407e-05	0	0	0	0	0	0	0	0	0.0058	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.151484	0.17953	U	0.395490	0.619892	0.32696	D	-0.185	0.04235	N	1.12	0.38718	T	1.92	0.00446	N	0.235	0.26475	-0.9945	0.31432	T	0.029	0.12278	T	10	0.0059690475	0.00134	T	0.005536	0.14258	T	0.071	0.20720	.	.	0.151104730317	0.14643	0.601269460778345	0.60057	0.0829935287975	0.09363	0.458443790674	0.33097	T	0.005254	0.04698	T	-0.555805	0.00269	T	-0.569785	0.15470	T	0.0120176397091891	0.00189	T	0.525248	0.17252	T	0.06909028	0.15106	0.074232124	0.16217	0.06909028	0.15106	0.074232124	0.16217	-6.978	0.53873	T	.	.	0.078	0.06663	B	.	.	1.137665	0.15248	11.70	0.099796595188311771	0.00115	0.67371	0.33409	D	AEFGBI	0.187795	0.31509	N	-0.993388137029605	0.08745	0.4111764	-0.765210569381469	0.15349	0.8068178	3.13548131591045E-4	0.06498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.13	3.31	0.37025	1.896000	0.39421	2.949000	0.35703	-0.134000	0.12905	0.997000	0.40164	1.000000	0.68203	0.035000	0.13729	0.1694:0.0:0.8306:0.0	9.959	0.40853	670	0.60992	AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	667.33	33	chr12	7306539	.	G	A	667.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.057;SOR=0.657	GT:AD:DP:GQ:PL	0/1:35,22:57:99:681,0,977	18	0	1	0
chr12	8177348	8177348	C	A	exonic	ZNF705A	.	nonsynonymous SNV	ZNF705A:NM_001004328:exon5:c.C668A:p.T223K	.	441	1067	12	2	0	16	0.00744186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.003442605786	.	0.000998403	0.0011	0.0002	0.0004	0	0	0.0014	0.0024	0.0017	0.0006916	18	26028	rs150478104	0.0010	0.0010	0.0009	0.0011	0.0142	0.0009	0.0009	0.0113	0.0103	0.0003	0.0014	0.0063	0	0	0.0142	0.0008	0.0018	0.0023	0.0012	0.0012	0.0011	0.0013	0.0041	0.0011	0.0010	0.0033	0.0030	0.0002	0	0.0041	0.0063	0	0	0.0068	0.0011	0.0019	0.0021	0.001	0.78490	D	0.004	0.74150	D	0.986	0.61523	D	0.849	0.60615	P	.	.	.	.	0.959791	0.26172	N	1.84	0.48285	L	1.85	0.24472	T	-5.52	0.85994	D	0.122	0.11769	-1.0293	0.20681	T	0.111	0.39841	T	8	0.014437795	0.00304	T	0.003443	0.07755	T	0.049	0.13647	.	.	0.442363741745	0.43858	0.04311538752531013	0.04256	1.58547644005	0.88456	0.592045068741	0.51783	T	0.143	0.47904	T	-0.481878	0.00721	T	-0.472225	0.25277	T	0.0769960724014129	0.09598	T	0.713629	0.32527	T	0.20417237	0.42518	0.27787933	0.53744	0.20417237	0.42518	0.27787933	0.53743	-7.898	0.60373	D	.	.	0.330	0.55699	B	.;.	.;.	-0.666574	0.01400	0.082	0.6651946755522925	0.08083	0.06043	0.12012	N	AEFI	0.095910	0.19371	N	-0.606489360491596	0.18748	0.9758661	-0.906060440889935	0.11950	0.6119693	4.09385800405276E-5	0.03775	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.35	0.427	0.15704	-0.153000	0.10130	-6.904000	0.01277	-3.591000	0.00073	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.0:0.8078:0.0:0.1922	5.957	0.18512	830	0.39242	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	0.007320	0.012500	0.008174	0.016807	0.000000	0.008772	0.003268	0.000000	0.02632	3058.33	175	chr12	8177348	.	C	A	3058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.18;DP=1948;ExcessHet=0;FS=3.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.41;MQRankSum=-6.631;QD=13.01;ReadPosRankSum=0.375;SOR=0.685	GT:AD:DP:GQ:PL	0/1:128,107:235:99:3072,0,3251	18	0	1	0
chr12	11353720	11353720	-	TGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon5:c.1368_1369insAACCTCAGGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACA:p.D457delinsNLRVPHLQESHKDHPHKETSPKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATD	.	540	935	7	29	11	76	0.0335917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0088	0.0081	0.0089	0.0159	0.0083	0.0083	0.0146	0.0141	0.0033	0.0083	0.0191	0.0159	0.0281	0.0146	0.0072	0.0123	0.0121	0.0005	0.0008	0.0005	0.0005	0.0004	0.0003	0.0002	0.0001	8.372e-05	0	0	0	0.0033	0	0.0067	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	22281.8	162	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	22281.8	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.9;DP=5175;ExcessHet=0.0003;FS=2.74;InbreedingCoeff=0.226;MLEAC=11;MLEAF=0.55;MQ=48.16;MQRankSum=-0.585;QD=23.73;ReadPosRankSum=-3.175;SOR=0.801	GT:AD:DP:GQ:PL	0/1:133,144:277:99:3053,0,2902	5	3	2	9
chr12	11393389	11393389	T	C	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.A689G:p.N230S,PRB2:NM_006248:exon3:c.A689G:p.N230S	.	435	1073	12	2	0	16	0.00740056	.	.	.	3907984	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.005	0.000486918617216	.	.	0.0004	0.0002	0.0002	0	0	0.0004	0.0011	0.0012	0.0001921	5	26028	rs775513569	1.371e-06	3.902e-05	1.364e-06	1.378e-06	2.334e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.334e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02742	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.6	0.04494	T	-0.07	0.08033	N	0.035	0.01004	-0.8923	0.48731	T	0.009	0.03227	T	9	0.028829008	0.01012	T	4.87E-4	0.00143	T	0.005	0.00259	.	.	0.0297737177859	0.01360	0.04384037740566545	0.04328	0.0547928800193	0.06069	.	.	.	.	.	.	-0.439859	0.01296	T	-0.869604	0.00746	T	0.0317482109287821	0.02266	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25364	B	.	.	-0.605176	0.01558	0.102	0.26337058837095856	0.01257	0.00108	0.00689	N	AEFBI	0.022613	0.01153	N	-1.78002062978341	0.00596	0.02567627	-1.88998809501248	0.00512	0.02270753	2.60052130758384E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.892	-1.78	0.07527	-0.048000	0.11898	-5.098000	0.01850	-0.625000	0.04531	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.247:0.0:0.753	4.582	0.11658	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	0.001587	0.000000	0.001359	0.000000	0.000000	0.008772	0.003049	0.000000	0.05263	431.83	102	chr12	11393389	.	T	C	431.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.675;DP=3190;ExcessHet=0.119;FS=13.624;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=53.08;MQRankSum=-5.051;QD=1.39;ReadPosRankSum=-2.98;SOR=1.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,19:209:99:0|1:11393380_T_C:178,0,7870:11393380	17	0	2	0
chr12	11393392	11393392	T	C	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.A686G:p.D229G,PRB2:NM_006248:exon3:c.A686G:p.D229G	.	434	1074	12	2	0	16	0.00739372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000385675308946	.	.	0.0001	0.0001	8.637e-05	0	0	0.0001	0	0.0005	0.0001537	4	26028	rs1244336640	1.387e-06	2.806e-05	2.76e-06	0	2.581e-05	2.3e-07	9e-08	.	.	0	0	0	2.581e-05	0	0	0	0	1.178e-05	1.007e-05	1.55e-05	0	2.083e-05	4.47e-05	0	0	.	.	4.47e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.898	0.03065	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.56	0.01933	T	-1.32	0.32991	N	0.059	0.03069	-0.9246	0.44915	T	0.003	0.00832	T	9	0.038134128	0.02212	T	3.86E-4	0.00059	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.09402591042167927	0.09334	0.0850906221602	0.09619	.	.	.	.	.	.	-0.434416	0.01395	T	-0.861785	0.00824	T	0.0382967305688353	0.03384	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08512	B	.	.	-0.980155	0.00800	0.026	0.34512470894480179	0.02115	0.00032	0.00291	N	AEFBI	0.017448	0.00458	N	-1.90524634732558	0.00335	0.01438476	-1.94847417651649	0.00391	0.01730527	1.96888064785958E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.23	-2.46	0.06089	-2.277000	0.01242	-1.127000	0.06250	-1.882000	0.00541	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4527:0.1986:0.3487	3.875	0.08559	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	.	.	.	.	.	.	.	.	0.05263	354.83	99	chr12	11393392	.	T	C	354.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.27;DP=3187;ExcessHet=0.119;FS=12.704;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=52.9;MQRankSum=-4.918;QD=1.17;ReadPosRankSum=-2.714;SOR=1.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,17:204:99:0|1:11393380_T_C:116,0,7780:11393380	17	0	2	0
chr12	20862414	20862414	T	G	exonic	SLCO1B3;SLCO1B3-SLCO1B7	.	nonsynonymous SNV	SLCO1B3:NM_001349920:exon5:c.T400G:p.C134G,SLCO1B3-SLCO1B7:NM_001371097:exon5:c.T484G:p.C162G,SLCO1B3:NM_019844:exon7:c.T484G:p.C162G	.	267	1242	11	2	0	15	0.0060024	.	.	.	609824	not_provided|Rotor_syndrome	MedGen:C3661900|MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.216	0.0403578984814	0.0002	0.00139776	0.0015	0.0002	0.0003	0	0	0.0005	0.0055	0.0085	0.0013001	201	154602	rs140353351	0.0009	0.0010	0.0006	0.0012	0.0092	0.0009	0.0009	0.0086	0.0084	6.03e-05	0.0002	0.0001	0	0	0.0045	0.0004	0.0008	0.0092	0.0005	0.0005	0.0003	0.0007	0.0085	0.0004	0.0004	0.0064	0.0057	7.216e-05	0	0.0002	0.0003	0	0	0.0136	0.0004	0	0.0085	0.002	0.72154	D	0.003	0.76473	D	0.999	0.77913	D	0.993	0.81110	D	0.058082	0.22430	N	0.463335	0.998294	0.81001	D	3.125	0.87999	M	1.11	0.38883	T	-10.75	0.99178	D	0.494	0.57604	-0.5462	0.66930	T	0.286	0.65821	T	10	0.010039598	0.00225	T	0.040358	0.59331	D	0.216	0.50959	.	.	0.446913017954	0.44314	0.6056558106755978	0.60496	0.0274802582531	0.03518	0.265899002552	0.05614	T	0.504018	0.82328	D	-0.375173	0.03341	T	-0.304722	0.44223	T	0.230741636406172	0.21987	T	0.731327	0.34859	T	0.78773934	0.83132	0.7530491	0.85404	0.78773934	0.83133	0.7530491	0.85405	-11.407	0.81843	D	0.6090045325812301	0.67647	0.305	0.53417	B	.;.;.;.	.;.;.;.	3.016421	0.40355	21.2	0.87251177246554401	0.17094	0.93555	0.58537	D	AEFI	0.871192	0.79246	D	0.190699559100681	0.50753	3.262355	-0.055353308416971	0.37258	2.179165	0.0015351721224606	0.08622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.79	2.63	0.30420	3.711000	0.54596	1.784000	0.28742	0.500000	0.22704	1.000000	0.71638	0.987000	0.30940	0.009000	0.08673	0.0:0.0928:0.0:0.9072	8.801	0.34069	906	0.23090	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.001359	0.005848	0.000000	0.017241	0.003049	0.015152	0.02632	3009.33	49	chr12	20862414	.	T	G	3009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.338;DP=1468;ExcessHet=0;FS=0.982;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-1.107;SOR=0.79	GT:AD:DP:GQ:PL	0/1:145,114:259:99:3023,0,3956	18	0	1	0
chr12	21043363	21043363	C	G	exonic	SLCO1B7	.	nonsynonymous SNV	SLCO1B7:NM_001009562:exon6:c.C616G:p.R206G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.0285448385551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000004	0.62929	D	0.108837	1	0.81001	D	3.805	0.95442	H	0.64	0.52867	T	-6.82	0.92980	D	0.88	0.87808	-0.1699	0.78431	T	0.350	0.71399	T	10	0.8803731	0.87345	D	0.028545	0.51207	D	0.470	0.76421	0.655	0.79276	0.613844073566	0.61072	0.724379286458256	0.72381	0.0284688338621	0.02927	.	.	.	0.119629	0.44129	T	0.21176	0.74996	D	0.0664027	0.74669	D	0.99315345287323	0.83844	D	0.937606	0.76517	D	0.7867848	0.83073	0.6706114	0.80673	0.7867848	0.83074	0.6706114	0.80674	-9.574	0.71319	D	.	.	0.634	0.73157	P	.;.	.;.	1.981534	0.25175	16.67	0.99668763860333653	0.78458	0.88626	0.48642	D	AEFBI	0.575784	0.57804	D	0.494912321697385	0.66790	4.996158	0.312297906702409	0.56261	3.789252	0.00103519058070715	0.08148	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.03	3.03	0.34070	4.181000	0.58100	4.791000	0.44900	0.385000	0.20450	0.998000	0.41325	1.000000	0.68203	0.625000	0.32026	0.0:1.0:0.0:0.0	11.320	0.48651	923	0.18507	.;Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1555.33	33	chr12	21043363	.	C	G	1555.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.559;DP=748;ExcessHet=0;FS=0.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=1.31;SOR=0.776	GT:AD:DP:GQ:PL	0/1:68,61:129:99:1569,0,1692	18	0	1	0
chr12	27380272	27380272	C	G	exonic	ARNTL2	.	nonsynonymous SNV	ARNTL2:NM_001248003:exon3:c.C241G:p.R81G,ARNTL2:NM_001248004:exon3:c.C208G:p.R70G,ARNTL2:NM_001248005:exon3:c.C241G:p.R81G,ARNTL2:NM_001248002:exon4:c.C310G:p.R104G,ARNTL2:NM_020183:exon5:c.C352G:p.R118G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.160482007439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.84481	D	0.000317	0.45977	D	0.088650	0.999784	0.50225	D	4.175	0.97701	H	-4.9	0.98333	D	-6.3	0.90771	D	0.818	0.84090	0.135	0.84801	D	0.533	0.82699	D	10	0.8773408	0.87030	D	0.160482	0.84047	D	0.796	0.93306	0.723	0.85761	0.969305030499	0.96897	0.6702769958201881	0.66965	0.609965696646	0.55699	0.807231545448	0.83067	D	0.784612	0.94345	D	0.340183	0.85844	D	0.250873	0.85658	D	0.996184527873993	0.88832	D	0.989838	0.97571	D	0.8810728	0.89755	0.8198246	0.89527	0.8810728	0.89756	0.8198246	0.89528	-11.937	0.84542	D	.	.	0.86	0.80310	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.025977	0.59491	24.1	0.99806750195997374	0.89085	0.67088	0.33306	D	AEFBI	0.356944	0.44815	N	0.151247285397562	0.48873	3.09409	0.051990828183271	0.42167	2.545896	2.71438730457273E-4	0.06300	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.33	2.39	0.28492	-0.048000	0.11898	2.687000	0.34060	0.575000	0.29119	0.912000	0.31733	1.000000	0.68203	0.995000	0.73285	0.4551:0.5449:0.0:0.0	10.233	0.42441	780	0.47616	.;.;.;.;.;Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1507.33	34	chr12	27380272	.	C	G	1507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.441;DP=767;ExcessHet=0;FS=1.413;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.417;SOR=0.843	GT:AD:DP:GQ:PL	0/1:69,62:131:99:1521,0,1713	18	0	1	0
chr12	31091767	31091767	G	A	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon10:c.G1138A:p.A380T,DDX11:NM_001257145:exon10:c.G1060A:p.A354T,DDX11:NM_004399:exon10:c.G1138A:p.A380T,DDX11:NM_030653:exon10:c.G1138A:p.A380T,DDX11:NM_152438:exon10:c.G1138A:p.A380T	Warsaw breakage syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.451	0.0701062670989	.	0.000599042	8.482e-05	0	0	0.0012	0	0	0	0	8.41e-05	13	154602	rs192257386	3.079e-05	3.078e-05	3.949e-05	2.201e-05	0.0010	2.348e-05	2.095e-05	0.0007	0.0006	0	0	0	0.0010	0	0	5.397e-06	1.656e-05	0	4.594e-05	4.593e-05	3.853e-05	5.369e-05	0.0014	2.107e-05	1.525e-05	0.0006	0.0005	0	0	0	0	0.0014	0	0	0	0	0	0.005	0.65419	D	0.095	0.41405	T	0.999	0.90584	D	0.977	0.83170	D	0.000163	0.48594	D	0.179711	1	0.81001	D	.	.	.	-0.53	0.71307	T	-2.51	0.56630	D	0.741	0.75650	-0.1509	0.78894	T	0.440	0.77859	T	10	0.29578292	0.47146	T	0.070106	0.70912	D	0.451	0.75143	.	.	0.78629844457	0.78432	0.48790238033156963	0.48710	.	.	0.582599639893	0.50451	T	0.34517	0.71359	T	-0.225186	0.17291	T	-0.152588	0.59013	T	0.293244172465064	0.24725	T	0.952805	0.82030	D	0.14240049	0.32773	0.2054365	0.44712	0.14240049	0.32772	0.2054365	0.44711	-7.938	0.61744	D	.	.	0.151	0.41402	B	.;.;.;.	.;.;.;.	4.255030	0.64624	24.7	0.99832791781545138	0.91456	0.97883	0.77847	D	AEFDBI	0.672076	0.63860	D	0.370267100002267	0.59818	4.164425	0.223253512988771	0.51139	3.299197	0.987997503511257	0.31392	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.05	3.05	0.34272	9.078000	0.93430	8.317000	0.76957	0.553000	0.28181	1.000000	0.71638	1.000000	0.68203	0.121000	0.19209	0.0:0.0:1.0:0.0	11.616	0.50348	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1435.33	179	chr12	31091767	.	G	A	1435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.81;DP=2026;ExcessHet=0;FS=5.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.9;MQRankSum=2.69;QD=7.36;ReadPosRankSum=0.044;SOR=1.131	GT:AD:DP:GQ:PL	0/1:133,62:195:99:1449,0,3621	18	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3192.41	61	chr12	39764776	.	G	C	3192.41	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.323;DP=1223;ExcessHet=28.6262;FS=348.508;InbreedingCoeff=-0.7653;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.27;ReadPosRankSum=0.863;SOR=12.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,31:71:99:.:.:379,0,526:.	2	0	16	1
chr12	40486404	40486404	-	ATCA	exonic	MUC19	.	unknown	UNKNOWN	.	549	963	8	0	2	10	0.0041365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303231972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	0.0002	6.792e-05	0.0002	7.163e-05	5.806e-05	7.974e-05	5.64e-05	0.0002	0	6.592e-05	0.0003	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	9441.75	1246	chr12	40486404	.	T	TATCA	9441.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=7.82;DP=18290;ExcessHet=0.3672;FS=54.284;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=57.38;MQRankSum=-29.47;QD=3.04;ReadPosRankSum=-9.184;SOR=5.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:899,140:1039:99:0|1:40486404_T_TATCA:3168,0,36752:40486404	16	0	3	0
chr12	40486405	40486405	-	CTAGGGTGACAGAGAGTACTGGACTA	exonic	MUC19	.	unknown	UNKNOWN	.	561	947	5	0	9	14	0.00263296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215974695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0062	0.0010	0.0005	0.0033	0.0005	0.0005	0.0006	0.0003	0.0007	0	0.0013	0.0017	0	0	0	0.0008	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10221.9	1299	chr12	40486405	.	G	GCTAGGGTGACAGAGAGTACTGGACTA	10221.9	.	AC=3;AF=0.25;AN=12;BaseQRankSum=6.72;DP=19206;ExcessHet=0.3672;FS=49.592;InbreedingCoeff=-0.3333;MLEAC=6;MLEAF=0.5;MQ=57.31;MQRankSum=-29.22;QD=3.29;ReadPosRankSum=-14.88;SOR=4.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:904,144:1048:99:0|1:40486404_T_TATCA:3323,0,36948:40486404	3	0	3	13
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	55498.9	1319	chr12	40487424	.	T	TTGG	55498.9	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.81;DP=21295;ExcessHet=25.4433;FS=1.658;InbreedingCoeff=-0.7273;MLEAC=5;MLEAF=0.132;MQ=56.74;MQRankSum=-28.9;QD=5.62;ReadPosRankSum=-0.745;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1020,0:1020:99:.:.:5373,0,42216:.	14	0	5	0
chr12	40487433	40487433	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	533	931	32	0	26	58	0.0168955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489428232	1.207e-06	4.11e-06	2.243e-06	0	1.32e-06	0	0	.	.	0	0	0	0	0	0	1.32e-06	0	0	7.447e-05	0.0018	9.648e-05	5.114e-05	0.0001	3.796e-05	2.83e-05	4.787e-05	3.216e-05	5.844e-05	0	0	0	0	0.0001	0	0.0001	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	.	.	.	.	.	.	.	.	0.04167	58.68	1387	chr12	40487433	.	A	G	58.68	.	AC=1;AF=0.042;AN=24;DP=20138;ExcessHet=0;FS=0;InbreedingCoeff=-0.1343;MLEAC=1;MLEAF=0.042;MQ=56.08;QD=0.06;SOR=0.646	GT:AD:DP:GQ:PL	0/1:1033,0:1033:69:69,0,43025	11	0	1	7
chr12	40488645	40488645	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	696	810	15	0	1	16	0.00917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs879525667	4.364e-06	4.772e-05	5.408e-06	3.148e-06	4.774e-06	1.16e-06	3.2e-07	1.27e-06	3.5e-07	0	0	0	0	0	0	4.774e-06	0	0	0.0024	0.0055	0.0023	0.0024	0.0057	0.0020	0.0019	0.0030	0.0022	0.0020	0.0078	0.0038	0.0007	0.0057	0.0049	0	0.0020	0.0026	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	.	.	.	.	.	.	.	.	0.05556	4264.89	544	chr12	40488645	.	T	C	4264.89	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.491;DP=11200;ExcessHet=0;FS=8.412;InbreedingCoeff=-0.1875;MLEAC=2;MLEAF=0.111;MQ=57.34;MQRankSum=-13.02;QD=7.91;ReadPosRankSum=-3.911;SOR=1.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:399,140:539:99:0|1:40488645_T_C:4273,0,15753:40488645	8	0	1	10
chr12	40488647	40488647	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	895	611	15	0	1	16	0.0121261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1270620408	4.395e-06	0.0001	5.449e-06	3.169e-06	4.809e-06	1.17e-06	3.2e-07	1.28e-06	3.6e-07	0	0	0	0	0	0	4.809e-06	0	0	0.0016	0.0039	0.0016	0.0017	0.0043	0.0014	0.0013	0.0023	0.0020	0.0009	0.0031	0.0035	0	0.0043	0.0042	0	0.0014	0.0024	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	4473.98	544	chr12	40488647	.	G	A	4473.98	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.455;DP=11246;ExcessHet=0;FS=8.398;InbreedingCoeff=0.0077;MLEAC=2;MLEAF=0.111;MQ=57.33;MQRankSum=-12.75;QD=8.11;ReadPosRankSum=-3.436;SOR=1.288	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:405,147:552:99:0|1:40488645_T_C:4482,0,15908:40488645	8	0	1	10
chr12	40488655	40488655	C	A	exonic	MUC19	.	unknown	UNKNOWN	.	683	815	24	0	0	24	0.0145103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006531	17	26028	rs55798248	3.791e-05	0.0003	3.383e-05	4.266e-05	3.816e-05	2.601e-05	2.198e-05	2.54e-05	2.121e-05	0	0	0	0	0	0	3.816e-05	9.246e-05	0	0.0056	0.0092	0.0058	0.0054	0.0100	0.0051	0.0049	0.0070	0.0062	0.0038	0.0134	0.0093	0.0024	0.0100	0.0104	0.0132	0.0055	0.0085	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	4964.58	493	chr12	40488655	.	C	A	4964.58	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-1.876;DP=10397;ExcessHet=0;FS=6.779;InbreedingCoeff=-0.1014;MLEAC=1;MLEAF=0.036;MQ=57.22;MQRankSum=-11.6;QD=8.56;ReadPosRankSum=-2.034;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:407,173:580:99:0|1:40488645_T_C:4976,0,15739:40488645	13	0	1	5
chr12	41573083	41573083	T	G	exonic	PDZRN4	.	nonsynonymous SNV	PDZRN4:NM_013377:exon8:c.T1530G:p.N510K,PDZRN4:NM_001164595:exon10:c.T2304G:p.N768K	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	.	.	0.00678914	0.0044	0.0002	0	0	0	3.003e-05	0	0.0321	0.0037968	587	154602	rs577990545	0.0020	0.0020	0.0011	0.0028	0.0315	0.0019	0.0019	0.0305	0.0301	2.987e-05	2.236e-05	0	0	0	0.0010	9.892e-06	0.0020	0.0315	0.0010	0.0010	0.0005	0.0015	0.0313	0.0009	0.0008	0.0272	0.0256	0	0	0	0	0	0	0	0	0	0.0313	0.053	0.38863	T	0.175	0.31125	T	1.0	0.90584	D	0.973	0.72923	D	0.000414	0.44736	D	0.193469	0.99991	0.51042	D	2.275	0.64647	M	-0.61	0.71779	T	-1.91	0.44471	N	0.527	0.55626	-0.1992	0.77692	T	0.465	0.79295	T	10	0.0047870874	0.00101	T	.	.	.	0.122	0.33800	0.228	0.15406	0.657421573829	0.65455	0.381811666616586	0.38096	0.604602005228	0.55391	0.533141970634	0.43478	T	0.024092	0.18267	T	-0.384912	0.02900	T	-0.300608	0.44659	T	0.106651302305366	0.13073	T	0.933407	0.75038	D	0.09599029	0.22601	0.13603622	0.32555	0.09599029	0.22601	0.13603622	0.32554	-4.988	0.36709	T	.	.	0.712	0.76236	P	.;.;.;.	.;.;.;.	1.568843	0.20088	14.58	0.9660675384185522	0.30427	0.94976	0.62988	D	AEFBI	0.701047	0.65786	D	-0.210593960815514	0.32700	1.846919	-0.221104616302431	0.30781	1.73608	2.14914265241805E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.34	-0.844	0.10197	0.649000	0.24529	-0.884000	0.07053	-0.692000	0.04118	0.999000	0.42656	0.009000	0.19889	0.986000	0.61781	0.0:0.6905:0.0:0.3095	11.265	0.48336	789	0.46346	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	3937.33	33	chr12	41573083	.	T	G	3937.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.475;DP=1050;ExcessHet=0;FS=0.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.362;SOR=0.774	GT:AD:DP:GQ:PL	0/1:123,147:270:99:3951,0,3216	18	0	1	0
chr12	43795599	43795599	C	G	exonic	TWF1	.	nonsynonymous SNV	TWF1:NM_002822:exon9:c.G1039C:p.A347P,TWF1:NM_001242397:exon10:c.G1060C:p.A354P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0144312544856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.43708	D	0.117	0.37037	T	0.337	0.48047	B	0.062	0.46637	B	0.000683	0.42383	D	0.265516	0.639358	0.32861	D	0.69	0.16971	N	1.43	0.32958	T	-0.49	0.16187	N	0.149	0.18920	-1.0276	0.21233	T	0.049	0.20987	T	10	0.12374139	0.23494	T	0.014431	0.34542	T	0.104	0.29647	0.084	0.00795	0.585747170787	0.58248	0.23576959825458196	0.23491	0.817697198664	0.67010	0.534688055515	0.43694	T	0.075626	0.35223	T	-0.107292	0.35216	T	-0.391894	0.34330	T	0.621706008911133	0.37276	D	0.871313	0.57716	D	0.070835754	0.15635	0.13977225	0.33339	0.070835754	0.15634	0.13977225	0.33338	-2.734	0.07593	T	.	.	0.091	0.13080	B	.;.;.	.;.;.	3.367160	0.46514	22.3	0.99639446999657821	0.76571	0.97889	0.77893	D	AEFDGBI	0.576261	0.57832	D	-0.035313430903305	0.40260	2.387949	0.0870892113881607	0.43898	2.682109	0.999123301601903	0.38507	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	4.34	0.51267	1.347000	0.33580	3.360000	0.37852	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.719:0.0:0.281	8.911	0.34714	595	0.68488	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1923	164.42	118	chr12	43795599	.	C	G	164.42	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-2.95;DP=2476;ExcessHet=1.3;FS=200.31;InbreedingCoeff=-0.2578;MLEAC=5;MLEAF=0.192;MQ=57.86;MQRankSum=-0.659;QD=0.28;ReadPosRankSum=1.47;SOR=12.301	GT:AD:DP:GQ:PL	0/1:77,30:127:11:11,0,1476	8	0	5	6
chr12	49648294	49648294	G	A	exonic	FMNL3	.	nonsynonymous SNV	FMNL3:NM_198900:exon21:c.C2422T:p.R808W,FMNL3:NM_001367835:exon22:c.C2575T:p.R859W,FMNL3:NM_175736:exon22:c.C2575T:p.R859W	.	422	1099	1	0	0	1	0.000454752	.	.	.	4144310	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.00966890913271	7.8e-05	.	4.978e-05	0.0002	0	0	0	0	0	0.0002	3.88e-05	6	154602	rs371810582	2.053e-05	2.121e-05	2.315e-05	1.788e-05	0.0002	1.456e-05	1.264e-05	3.767e-05	2.663e-05	2.989e-05	0	0	0	0	0.0002	1.349e-05	9.939e-05	8.121e-05	1.315e-05	1.313e-05	1.286e-05	1.345e-05	2.41e-05	2.18e-06	8.2e-07	.	.	2.41e-05	0	0	0	0	0	0	0	0.0005	0	0.04	0.43085	D	0.145	0.34009	T	0.994	0.66517	D	0.653	0.52567	P	0.000011	0.62929	N	0.064498	0.999999	0.58761	D	1.205	0.30389	L	2.23	0.18083	T	-3.89	0.72932	D	0.535	0.61764	-1.1042	0.03620	T	0.083	0.32614	T	10	0.3671947	0.53194	T	0.009669	0.25267	T	0.107	0.30369	.	.	0.499921029546	0.49629	0.6198020507438934	0.61913	1.23893096804	0.81535	0.577918827534	0.49793	T	0.024336	0.18409	T	-0.273969	0.11317	T	-0.394645	0.34009	T	0.437232226133347	0.30327	T	0.963804	0.88706	D	.	.	.	.	.	.	.	.	-11.784	0.83782	D	.	.	0.383	0.58588	A	.;.;.	.;.;.	5.496065	0.91532	32	0.99928247441539664	0.99222	0.93959	0.59690	D	AEFDGBI	0.815757	0.73766	D	0.358737637983148	0.59202	4.097746	0.359200637096758	0.59062	4.081178	0.99999998784403	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.79	4.79	0.60909	1.328000	0.33364	6.735000	0.56468	0.676000	0.76740	0.221000	0.24547	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	17.139	0.86625	297	0.88113	.;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	913.33	42	chr12	49648294	.	G	A	913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.06;DP=769;ExcessHet=0;FS=3.731;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=-0.479;SOR=0.394	GT:AD:DP:GQ:PL	0/1:65,42:107:99:927,0,1676	18	0	1	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N,SCN8A:NM_001330260:exon11:c.G1581C:p.K527N,SCN8A:NM_001369788:exon11:c.G1581C:p.K527N,SCN8A:NM_014191:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0719142025239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	3.968e-05	1.38e-06	1.404e-06	3.092e-05	2.3e-07	9e-08	.	.	3.092e-05	0	0	0	0	0	9.097e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.223	0.33109	T	0.431	0.35606	B	0.315	0.41566	B	0.000179	0.48594	D	0.184301	0.816986	0.28930	N	2.195	0.61839	M	-2.82	0.91192	D	-2.89	0.62747	D	0.442	0.53445	0.033	0.82901	D	0.626	0.86854	D	10	0.24059924	0.41222	T	0.071914	0.71394	D	0.252	0.56159	0.33	0.31519	0.902646408154	0.90167	0.5674523308067984	0.56673	1.41807407564	0.85568	0.605724453926	0.53712	T	0.703665	0.91489	D	-0.0247068	0.48179	T	-0.273266	0.47488	T	0.927446901798248	0.59031	D	0.789921	0.45664	T	0.2993846	0.52850	0.29699904	0.55732	0.2993846	0.52850	0.29699904	0.55732	-3.007	0.12177	T	.	.	0.476	0.68156	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.650273	0.34508	19.65	0.9983572789978995	0.91714	0.18883	0.20441	N	AEFBI	0.095722	0.19336	N	-0.290515847983622	0.29512	1.637351	-0.293922467393298	0.28298	1.576831	0.186781275037378	0.17948	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	0.104000	0.15148	1.189000	0.24752	0.676000	0.76740	0.600000	0.27747	1.000000	0.68203	0.996000	0.76049	0.4379:0.0:0.5621:0.0	7.062	0.24310	579	0.69780	Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;.;.;.;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	1136.65	43	chr12	51706661	.	G	C	1136.65	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.366;DP=1341;ExcessHet=6.9875;FS=163.767;InbreedingCoeff=-0.4405;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=1.93;SOR=11.652	GT:AD:DP:GQ:PL	0/1:55,34:100:99:178,0,925	7	0	10	2
chr12	52302070	52302070	G	C	exonic	KRT86	.	nonsynonymous SNV	KRT86:NM_001320198:exon3:c.G154C:p.G52R	Monilethrix, Autosomal dominant	4	1490	27	1	0	29	0.00963775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.678	0.146648324515	.	0.00279553	0.0042	0.0002	0.0030	0.0064	0.0003	0.0036	0.0058	0.0077	0.001191	31	26028	rs376835872	0.0020	0.0026	0.0018	0.0022	0.0079	0.0019	0.0019	0.0063	0.0061	0.0002	0.0016	0.0283	0.0042	0.0002	0.0079	0.0009	0.0044	0.0068	0.0020	0.0021	0.0018	0.0021	0.0078	0.0018	0.0017	0.0058	0.0051	0.0003	0	0.0017	0.0272	0.0062	0.0006	0.0034	0.0012	0.0033	0.0078	0.004	0.65419	D	0.013	0.63109	D	0.99	0.63424	D	0.928	0.66279	D	0.003547	0.34793	U	0.000000	0.962343	0.38285	D	2.53	0.73802	M	-3.22	0.93352	D	-3.94	0.73378	D	0.567	0.59053	0.958	0.96514	D	0.875	0.95850	D	10	0.009016246	0.00204	T	0.146648	0.82875	D	0.678	0.88157	0.402	0.43245	0.907128477934	0.90620	0.10990278393304766	0.10919	2.01890163659	0.93980	0.691939294338	0.65984	T	0.120638	0.57973	T	-0.0406634	0.45850	T	0.17226	0.81543	D	0.026200499663735	0.01433	T	0.761924	0.39120	T	0.12913589	0.30170	0.23273379	0.48443	0.12467664	0.29247	0.20505106	0.44655	-7.39	0.56834	T	0.21499002269076986	0.28896	0.231	0.46389	B	.;.;.	.;.;.	4.280824	0.65203	24.8	0.99916154193803342	0.98449	0.97414	0.74598	D	AEFDBI	0.450871	0.50509	N	0.669673838016625	0.77645	6.715113	0.603116068978264	0.75167	6.262736	0.999992520991363	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.0	5.0	0.66209	3.430000	0.52575	.	.	0.640000	0.52149	1.000000	0.71638	1.000000	0.68203	0.227000	0.22653	0.0901:0.0:0.9099:0.0	11.014	0.46892	722	0.55239	Keratin type II head;Keratin type II head;Keratin type II head	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009150	0.000000	0.010929	0.012397	0.000000	0.017241	0.012579	0.003788	0.05263	1990.83	35	chr12	52302070	.	G	C	1990.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.007;DP=776;ExcessHet=0.119;FS=4.496;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=47.76;MQRankSum=-0.48;QD=12.37;ReadPosRankSum=1.54;SOR=0.346	GT:AD:DP:GQ:PL	0/1:45,37:82:99:862,0,1469	17	0	2	0
chr12	53531805	53531805	C	T	exonic	ATF7;ATF7-NPFF	.	nonsynonymous SNV	ATF7:NM_001366561:exon8:c.G701A:p.R234H,ATF7:NM_001130060:exon9:c.G803A:p.R268H,ATF7:NM_001366555:exon9:c.G899A:p.R300H,ATF7:NM_001366556:exon9:c.G866A:p.R289H,ATF7:NM_001366558:exon9:c.G866A:p.R289H,ATF7-NPFF:NM_001366559:exon9:c.G866A:p.R289H,ATF7-NPFF:NM_001366560:exon9:c.G866A:p.R289H,ATF7:NM_006856:exon9:c.G866A:p.R289H	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00678451120123	8e-05	0.000599042	0.0006	0	0.0001	0	0.0015	0.0002	0.0051	0.0027	0.0004722	73	154602	rs199777559	0.0003	0.0003	0.0003	0.0004	0.0026	0.0003	0.0003	0.0023	0.0022	2.988e-05	4.489e-05	0	0	0.0024	0.0014	8.817e-05	0.0003	0.0026	0.0003	0.0003	0.0002	0.0003	0.0029	0.0002	0.0002	0.0018	0.0014	4.817e-05	0	6.548e-05	0	0.0002	0.0011	0	0.0001	0.0005	0.0029	0.039	0.42783	D	0.092	0.39954	T	0.005	0.12996	B	0.004	0.10090	B	0.000000	0.84330	D	0.052195	0.999958	0.52935	D	1.545	0.39105	L	0.82	0.48142	T	-0.84	0.26422	N	0.331	0.37197	-1.0290	0.20778	T	0.118	0.41538	T	10	0.010108054	0.00226	T	0.006785	0.17925	T	0.105	0.29889	.	.	0.36076525451	0.35686	0.49081080903918584	0.49001	0.280772341152	0.30555	0.583838105202	0.50626	T	0.330737	0.70090	T	-0.448785	0.01148	T	-0.422352	0.30805	T	0.0491581015353019	0.05352	T	0.915108	0.69728	D	0.13874973	0.32077	0.09276749	0.21878	0.13874973	0.32077	0.09276749	0.21878	.	.	.	.	.	0.133	0.32299	B	.;.;.;.	.;.;.;.	3.913250	0.57078	23.8	0.99688023892592492	0.79708	0.94143	0.60242	D	AEFDBI	0.384734	0.46575	N	-0.0212385157539786	0.40895	2.436568	0.160045640125492	0.47677	2.994321	0.999662936898814	0.41534	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	3.563000	0.53529	4.047000	0.41475	0.545000	0.25583	0.998000	0.41325	1.000000	0.68203	0.988000	0.63387	0.0:0.9186:0.0:0.0814	12.426	0.54884	489	0.76795	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.007576	0.02632	1882.33	34	chr12	53531805	.	C	T	1882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=773;ExcessHet=0;FS=0.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.909;SOR=0.751	GT:AD:DP:GQ:PL	0/1:83,73:156:99:1896,0,1997	18	0	1	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1562	209.59	144	chr12	54363394	.	G	A	209.59	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-4.23;DP=1750;ExcessHet=1.3;FS=194.631;InbreedingCoeff=-0.21;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.681;SOR=9.84	GT:AD:DP:GQ:PL	0/1:71,32:103:99:102,0,1424	11	0	5	3
chr12	55221535	55221535	C	T	exonic	OR10A7	.	nonsynonymous SNV	OR10A7:NM_001005280:exon1:c.C511T:p.P171S	.	428	1073	20	1	0	22	0.0101476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00150530038139	0.0002	0.000798722	0.0012	0	0.0003	0	0	0.0002	0.0022	0.0075	0.0009508	147	154602	rs367838102	0.0006	0.0006	0.0003	0.0008	0.0076	0.0005	0.0005	0.0071	0.0069	2.989e-05	6.716e-05	0	0	0	0.0031	0.0001	0.0007	0.0076	0.0003	0.0003	9.005e-05	0.0004	0.0056	0.0002	0.0002	0.0040	0.0034	2.411e-05	0	6.555e-05	0	0	0	0	0.0001	0	0.0056	1.0	0.00964	T	1.0	0.01155	T	0.005	0.12996	B	0.021	0.19346	B	0.198540	0.16660	N	0.436240	1	0.08975	N	0.285	0.10073	N	1.26	0.36330	T	-1.83	0.42957	N	0.06	0.03175	-0.9826	0.34398	T	0.032	0.13592	T	10	0.004301727	0.00087	T	0.001505	0.02318	T	0.030	0.07022	.	.	0.154104182512	0.14974	0.11984255135624997	0.11911	0.00681914297256	0.00599	0.213614076376	0.00974	T	0.005473	0.04921	T	-0.650012	0.00072	T	-0.702608	0.05684	T	0.0133116029544729	0.00239	T	0.265873	0.04359	T	0.05275046	0.09883	0.06471085	0.13009	0.05275046	0.09883	0.06471085	0.13008	-5.319	0.40131	T	.	.	0.113	0.22428	B	.	.	-0.252960	0.02830	0.394	0.33655348795752271	0.02016	0.00809	0.03284	N	AEFBI	0.021484	0.00961	N	-1.4426566734646	0.02275	0.1002911	-1.40663507546003	0.03185	0.1480628	1.8843351164111E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.55	-0.0317	0.13235	-4.069000	0.00341	.	.	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.775000	0.36711	0.0:0.3655:0.0:0.6345	7.704	0.27805	862	0.33134	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	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	2792.33	41	chr12	55221535	.	C	T	2792.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.648;DP=843;ExcessHet=0;FS=2.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-1.65;SOR=0.823	GT:AD:DP:GQ:PL	0/1:105,101:206:99:2806,0,2910	18	0	1	0
chr12	56720806	56720806	C	T	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001113203:exon3:c.G724A:p.A242T,NACA:NM_001365896:exon3:c.G724A:p.A242T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00573844219729	.	0.000199681	0.0003	0.0002	8.639e-05	0	0	0	0	0.0022	0.0002846	44	154602	rs547750565	0.0001	0.0001	7.624e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0.0001	0.0001	0	0	0	0.0003	7.195e-06	0.0001	0.0019	0.0001	0.0001	7.714e-05	0.0002	0.0023	8.168e-05	6.724e-05	0.0013	0.0010	0.0002	0	6.548e-05	0	0	0	0	0	0	0.0023	1.0	0.00964	T	0.154	0.32040	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.805	0.01590	N	1.39	0.33842	T	0.65	0.05917	N	0.021	0.00571	-0.9793	0.35162	T	0.030	0.13067	T	9	0.0048423707	0.00103	T	0.005738	0.14892	T	0.007	0.00512	0.225	0.14960	0.0297737177859	0.01360	0.027724948264289177	0.02722	0.0202767068331	0.01990	0.272259116173	0.06438	T	0.049146	0.28223	T	-0.723921	0.00026	T	-0.819423	0.01464	T	0.0028254545219868	0.00029	T	0.394561	0.09893	T	0.020774586	0.00649	0.04763409	0.06905	0.020774586	0.00648	0.04763409	0.06905	-3.506	0.17568	T	.	.	0.061	0.01026	B	.;.	.;.	-0.148461	0.03363	0.598	0.10430562423004196	0.00131	0.01253	0.04406	N	AEFDBCIJ	0.019250	0.00652	N	-1.66423336530477	0.00976	0.04231813	-1.70115655629059	0.01132	0.05090966	0.999980995899251	0.51787	0.489673	0.17934	0	0.516746	0.08562	0	0.633826	0.45126	0	0.662433	0.64102	0	.	.	2.99	-3.69	0.04162	-0.052000	0.11821	0.581000	0.19707	-0.210000	0.08370	0.009000	0.18154	0.990000	0.31317	0.003000	0.05239	0.0:0.1485:0.5399:0.3116	5.017	0.13685	45	0.97767	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1545.33	38	chr12	56720806	.	C	T	1545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=923;ExcessHet=0;FS=5.308;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.343;SOR=0.866	GT:AD:DP:GQ:PL	0/1:73,57:130:99:1559,0,1876	18	0	1	0
chr12	57471154	57471154	G	T	exonic	GLI1	.	nonsynonymous SNV	GLI1:NM_001160045:exon10:c.G2030T:p.R677L,GLI1:NM_001167609:exon11:c.G2291T:p.R764L,GLI1:NM_005269:exon12:c.G2414T:p.R805L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00924339289839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.341	0.17964	T	0.931	0.51899	P	0.248	0.38946	B	0.001870	0.37789	N	0.000000	0.652337	0.30522	N	0.55	0.14455	N	2.59	0.14531	T	-1.09	0.28290	N	0.486	0.63459	-1.0677	0.09926	T	0.019	0.08079	T	10	0.21450686	0.37974	T	0.009243	0.24272	T	0.092	0.26621	0.463	0.53242	0.546044812627	0.54260	0.28271560558137826	0.28184	0.496001013045	0.48122	0.427303493023	0.28840	T	0.349519	0.71736	T	-0.0823169	0.39337	T	-0.356019	0.38513	T	0.794777810573578	0.46003	D	0.850615	0.53448	D	0.14253344	0.32797	0.10637085	0.25589	0.14253344	0.32796	0.10637085	0.25588	-2.76	0.08730	T	.	.	0.187	0.48071	B	.;.;.;.	.;.;.;.	2.961672	0.39448	21.0	0.99654060295104308	0.77505	0.77796	0.38294	D	AEFDBCI	0.522881	0.54671	D	0.0661935267682316	0.44892	2.754992	0.133591709209223	0.46276	2.876	0.999999920952643	0.74766	0.634777	0.41761	0	0.379588	0.06130	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	4.62	3.72	0.41857	1.654000	0.36950	0.309000	0.17063	0.618000	0.50648	0.364000	0.25875	0.849000	0.27373	0.998000	0.85391	0.097:0.0:0.903:0.0	10.533	0.44174	308	0.87611	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1615.33	43	chr12	57471154	.	G	T	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.9;DP=793;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.302;SOR=0.665	GT:AD:DP:GQ:PL	0/1:69,60:129:99:1629,0,1615	18	0	1	0
chr12	57765390	57765390	C	G	exonic	CYP27B1	.	nonsynonymous SNV	CYP27B1:NM_000785:exon3:c.G496C:p.V166L	Vitamin D-dependent rickets, type I, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	870243	Vitamin_D-dependent_rickets,_type_1A|not_provided|Vitamin_D-dependent_rickets,_type_1	MONDO:MONDO:0020723,MedGen:CN283242,OMIM:264700|MedGen:C3661900|MONDO:MONDO:0009924,MedGen:C0268689,Orphanet:289157	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0017	0.0145767	0.0117	0.0005	0.0038	0.0032	0.0002	0.0019	0.0241	0.0678	0.0093142	1440	154602	rs8176344	0.0060	0.0060	0.0044	0.0077	0.0631	0.0059	0.0059	0.0616	0.0611	0.0008	0.0032	3.832e-05	0.0015	0.0005	0.0023	0.0023	0.0085	0.0631	0.0039	0.0039	0.0031	0.0047	0.0674	0.0036	0.0035	0.0614	0.0591	0.0011	0	0.0024	0	0.0040	0.0008	0	0.0020	0.0104	0.0674	0.569	0.06204	T	0.45	0.12957	T	0.015	0.17086	B	0.071	0.27960	B	0.000222	0.47286	D	0.164208	0.760797	0.29541	N	1.2	0.30300	L	-0.2	0.66113	T	0.04	0.06488	N	0.148	0.15046	-0.9125	0.46543	T	0.151	0.47944	T	10	0.002989173	0.00049	T	.	.	.	0.101	0.28911	0.262	0.20631	.	.	0.4677598049558813	0.46694	0.467334885354	0.46115	0.685787141323	0.65100	T	0.135799	0.46781	T	-0.391921	0.02614	T	-0.28863	0.45916	T	0.0355887090034149	0.02910	T	0.825917	0.48908	T	0.1344374	0.31235	0.15843023	0.36997	0.16172789	0.36201	0.23358274	0.48550	-4.927	0.36037	T	0.1796851102065633	0.23089	0.159	0.35204	B	.	.	2.319049	0.29694	18.20	0.68859940478482518	0.08789	0.82424	0.41654	D	ALL	0.453646	0.50669	N	-0.275588801861829	0.30094	1.674845	-0.142707017944204	0.33690	1.929773	0.99999999974257	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	5.06	5.06	0.67838	2.594000	0.45853	5.975000	0.52067	0.596000	0.33519	0.993000	0.37899	1.000000	0.68203	0.057000	0.15750	0.0:0.9127:0.0:0.0873	10.861	0.46034	182	0.92924	.	.	.	.	.	.	Likely benign	0	0	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	0.008577	0.005102	0.000000	0.005882	0.000000	0.000000	0.006135	0.034091	0.05263	4197.83	34	chr12	57765390	.	C	G	4197.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.13;DP=945;ExcessHet=0.119;FS=1.321;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.36;SOR=0.787	GT:AD:DP:GQ:PL	0/1:81,85:166:99:2231,0,2019	17	0	2	0
chr12	70329447	70329447	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G263A:p.G88E,CNOT2:NM_014515:exon5:c.G263A:p.G88E,CNOT2:NM_001199302:exon6:c.G263A:p.G88E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0249699400883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.056	0.60337	T	0.18	0.29046	B	0.016	0.17743	B	0.000092	0.51296	D	0.205934	1	0.81001	D	1.955	0.52871	M	0.61	0.53516	T	-2.61	0.87063	D	0.894	0.89465	-1.0689	0.09657	T	0.091	0.34928	T	10	0.44669622	0.58441	T	0.02497	0.47953	T	0.243	0.54921	0.295	0.25881	0.630911567125	0.62789	0.5893526410213833	0.58865	1.45052255294	0.86148	0.870351672173	0.92618	D	0.084226	0.37982	T	0.199477	0.73844	D	0.0487582	0.73503	D	0.943937063217163	0.61959	D	0.970003	0.92760	D	0.19678634	0.41519	0.35423598	0.60971	0.19678634	0.41519	0.35423598	0.60971	-8.645	0.65385	D	.	.	0.823	0.78641	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.601265	0.72877	25.9	0.99396539979002119	0.62610	0.98182	0.80315	D	AEFBI	0.939378	0.93989	D	0.0518739367113106	0.44228	2.700752	0.259013200612053	0.53164	3.486706	0.999999998541904	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.754000	0.84040	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	88.22	34	chr12	70329447	.	G	A	88.22	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.759;DP=865;ExcessHet=0.119;FS=143.341;InbreedingCoeff=-0.0507;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=1.14;SOR=5.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,7:93:7:0|1:70329447_G_A:7,0,3466:70329447	17	0	2	0
chr12	70329450	70329450	T	C	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.T266C:p.M89T,CNOT2:NM_014515:exon5:c.T266C:p.M89T,CNOT2:NM_001199302:exon6:c.T266C:p.M89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.0131236657606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.366e-05	0	0	2.54e-05	0	0	0.0002	0.0001	5.893e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.72154	T	0.373	0.58613	T	0.089	0.25085	B	0.015	0.17295	B	0.000002	0.62929	D	0.156649	0.999987	0.54805	D	1.39	0.34934	L	0.75	0.50192	T	-1.37	0.73151	N	0.791	0.78737	-1.0546	0.13145	T	0.070	0.28609	T	10	0.3466993	0.51619	T	0.013124	0.32271	T	0.286	0.60456	0.221	0.14371	0.702063244252	0.69947	0.5511041298698888	0.55036	1.14100540041	0.78923	0.857781887054	0.90783	D	0.084111	0.37206	T	0.247529	0.78369	D	0.117782	0.78087	D	0.656853437423706	0.38758	D	0.789921	0.45805	T	0.21835071	0.44341	0.21838577	0.46539	0.21835071	0.44341	0.21838577	0.46538	-4.093	0.25187	T	.	.	0.581	0.70259	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.987872	0.58674	24.0	0.9772757362070762	0.35598	0.97687	0.76416	D	AEFBI	0.932963	0.92412	D	-0.161537160210571	0.34744	1.986992	0.0781611403978821	0.43451	2.64668	0.999999326455377	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.674000	0.83146	7.864000	0.71599	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.188	0.65156	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	1087.65	68	chr12	70329450	.	T	C	1087.65	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.25;DP=1266;ExcessHet=1.3;FS=238.943;InbreedingCoeff=-0.3919;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.57;ReadPosRankSum=0.577;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,8:96:27:0|1:70329447_G_A:27,0,3547:70329447	3	0	5	11
chr12	70329451	70329451	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G267A:p.M89I,CNOT2:NM_014515:exon5:c.G267A:p.M89I,CNOT2:NM_001199302:exon6:c.G267A:p.M89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0103649765516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.043e-07	6.894e-07	1.406e-06	0	9.311e-07	0	0	.	.	0	0	0	0	0	0	9.311e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.41364	T	0.74	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	0.000002	0.62929	D	0.156649	0.999898	0.50595	D	1.735	0.44892	L	0.94	0.43672	T	-0.39	0.57599	N	0.48	0.51851	-1.0708	0.09238	T	0.062	0.25708	T	10	0.23940006	0.41079	T	0.010365	0.26807	T	0.130	0.35528	0.277	0.23004	0.369524611565	0.36568	0.44334245260416183	0.44252	1.09812664247	0.77639	0.794959783554	0.81196	T	0.070289	0.33924	T	-0.0695512	0.41400	T	-0.337682	0.40607	T	0.759007751941681	0.43794	D	0.931607	0.77964	D	0.2108132	0.43389	0.21262307	0.45739	0.2108132	0.43389	0.21262307	0.45738	-3.813	0.20999	T	.	.	0.372	0.61506	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.889866	0.56592	23.8	0.97936597058958741	0.36999	0.97640	0.76089	D	AEFBI	0.924572	0.90281	D	-0.117543626066413	0.36629	2.119811	0.139756337599154	0.46603	2.903537	0.999961322651884	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.758000	0.84076	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	1175.06	68	chr12	70329451	.	G	A	1175.06	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.043;DP=1317;ExcessHet=2.0135;FS=255.631;InbreedingCoeff=-0.4337;MLEAC=10;MLEAF=0.625;MQ=60;MQRankSum=0;QD=2.32;ReadPosRankSum=0.613;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,8:97:24:0|1:70329447_G_A:24,0,3579:70329447	2	0	6	11
chr12	101355074	101355074	A	G	exonic	UTP20	.	nonsynonymous SNV	UTP20:NM_014503:exon41:c.A5350G:p.T1784A	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	.	0.00199681	0.0013	0	8.666e-05	0	0	4.541e-05	0.0044	0.0089	0.0010802	167	154602	rs202007555	0.0005	0.0005	0.0003	0.0008	0.0080	0.0005	0.0005	0.0075	0.0073	2.987e-05	2.236e-05	0	0	1.872e-05	0.0003	4.407e-05	0.0004	0.0080	0.0002	0.0002	0.0001	0.0003	0.0056	0.0001	0.0001	0.0040	0.0034	0	0	0	0	0	0	0	2.941e-05	0.0005	0.0056	0.218	0.19090	T	0.069	0.43913	T	0.209	0.29944	B	0.03	0.21741	B	0.000192	0.48115	D	0.213139	0.989883	0.41043	D	1.61	0.41143	L	2.27	0.17431	T	-1.01	0.26639	N	0.462	0.49874	-1.0908	0.05400	T	0.041	0.17785	T	10	0.00807789	0.00183	T	.	.	.	0.115	0.32236	0.514	0.61307	0.352910780287	0.34901	0.13511141992502884	0.13435	0.117181232826	0.13205	0.514178693295	0.40808	T	0.011606	0.10331	T	-0.473194	0.00812	T	-0.446089	0.28129	T	0.0293114062125024	0.01885	T	0.709529	0.32034	T	0.05748669	0.11447	0.07376759	0.16066	0.05748669	0.11446	0.07376759	0.16066	-6.344	0.49071	T	.	.	0.091	0.13127	B	.	.	2.530047	0.32712	19.12	0.97837945403431104	0.36305	0.91561	0.53787	D	AEFBI	0.336662	0.43471	N	-0.0772866656637128	0.38391	2.247741	0.0573131547523606	0.42425	2.565948	0.953184110105393	0.28059	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	5.79	0.91751	4.701000	0.61496	9.296000	0.79833	0.756000	0.94297	0.867000	0.30739	1.000000	0.68203	0.879000	0.42020	1.0:0.0:0.0:0.0	14.088	0.64494	844	0.36711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	780.33	39	chr12	101355074	.	A	G	780.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.365;DP=691;ExcessHet=0;FS=3.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.329;SOR=0.342	GT:AD:DP:GQ:PL	0/1:38,33:71:99:794,0,1012	18	0	1	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCTGTTAA	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCTGTTAA:p.E188Gfs*8,TDG:NM_003211:exon8:c.964_965insAGGATGCAAAGAAGATGGCTGTTAA:p.E331Gfs*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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	2004.32	46	chr12	103984920	.	G	GAGGATGCAAAGAAGATGGCTGTTAA	2004.32	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.31;DP=2233;ExcessHet=5.3738;FS=11.033;InbreedingCoeff=-0.3104;MLEAC=3;MLEAF=0.079;MQ=58.71;MQRankSum=-9.421;QD=1.62;ReadPosRankSum=-4.38;SOR=1.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:150,14:164:99:.:.:134,0,6208:.	16	0	3	0
chr12	108788383	108788383	T	C	exonic	SSH1	.	nonsynonymous SNV	SSH1:NM_018984:exon15:c.A2755G:p.I919V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00334898760555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.84e-07	0	1.377e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.14546	T	0.644	0.06881	T	0.001	0.07471	B	0.002	0.06944	B	0.076118	0.21182	N	0.515626	0.999353	0.21317	N	1.78	0.46185	L	2.68	0.12371	T	-0.1	0.08495	N	0.039	0.01274	-0.9766	0.35772	T	0.021	0.09009	T	10	0.06969142	0.10036	T	0.003349	0.07482	T	0.021	0.04004	0.229	0.15556	0.128874641272	0.12493	0.0994705780884719	0.09878	0.204015260203	0.22813	0.346592843533	0.17419	T	0.044739	0.26909	T	-0.320195	0.06882	T	-0.697715	0.05951	T	0.0734191089868546	0.09123	T	0.742826	0.36203	T	0.029248659	0.02388	0.03367834	0.02303	0.029248659	0.02388	0.03367834	0.02302	-3.661	0.18744	T	.	.	0.066	0.02200	B	.	.	1.631291	0.20829	14.93	0.89362508875963598	0.18732	0.67116	0.33316	D	AEFDBCI	0.138842	0.26025	N	-0.502733793775818	0.21992	1.171123	-0.371189020430652	0.25860	1.424775	0.929456022933376	0.26969	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.41	0.014	0.13419	0.491000	0.22128	1.347000	0.25779	0.665000	0.62972	0.997000	0.40164	0.998000	0.33993	1.000000	0.97212	0.0:0.3545:0.0:0.6455	8.881	0.34533	872	0.31118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1582.33	33	chr12	108788383	.	T	C	1582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.424;DP=987;ExcessHet=0;FS=1.439;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.033;SOR=0.718	GT:AD:DP:GQ:PL	0/1:54,69:123:99:1596,0,1518	18	0	1	0
chr12	111598975	111598975	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	3	208	8	0	7	15	0.0188679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1288.21	33	chr12	111598975	.	C	*	1288.21	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.823;DP=822;ExcessHet=0.0101;FS=5.564;InbreedingCoeff=0.4409;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-1.12;SOR=0.461	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,6:32:99:0|1:111598974_GC_G:124,0,968:111598974	17	0	2	0
chr12	111598977	111598981	GTTGC	-	exonic	ATXN2	.	frameshift deletion	ATXN2:NM_001372574:exon1:c.54_58del:p.Q19Afs*69,ATXN2:NM_002973:exon1:c.54_58del:p.Q19Afs*69	Spinocerebellar ataxia 2, Autosomal dominant	79	1408	23	0	12	35	0.00810144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0	0.0111	0	0	0.0015	0	0.0024	0.0001153	3	26028	rs767766545	0.0012	0.0064	0.0012	0.0012	0.0037	0.0011	0.0011	0.0029	0.0027	0.0014	0.0027	0.0040	0.0034	0.0006	0.0037	0.0009	0.0017	0.0019	0.0013	0.0016	0.0013	0.0013	0.0026	0.0012	0.0011	0.0016	0.0012	0.0010	0	0.0014	0.0087	0.0026	0	0	0.0012	0.0024	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	588.78	33	chr12	111598976	.	TGTTGC	T	588.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.029;DP=829;ExcessHet=0.119;FS=4.208;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=0.997;SOR=0.38	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,6:32:99:0|1:111598974_GC_G:124,0,968:111598974	18	0	1	0
chr12	111598978	111598978	T	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2343.5	33	chr12	111598978	.	T	*	2343.5	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.248;DP=853;ExcessHet=0.3441;FS=3.441;InbreedingCoeff=0.1244;MLEAC=2;MLEAF=0.053;MQ=59.94;MQRankSum=0;QD=12.53;ReadPosRankSum=0.74;SOR=0.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,6:32:99:.:.:181,0,965:.	17	0	2	0
chr12	111702254	111702254	G	C	exonic	ACAD10	.	nonsynonymous SNV	ACAD10:NM_001136538:exon3:c.G280C:p.A94P,ACAD10:NM_025247:exon3:c.G280C:p.A94P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0373141519834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	2.24e-05	7.732e-05	0	0	0.0004	0.0002	0.0001	5.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.72154	D	0.029	0.79402	D	0.963	0.55692	D	0.602	0.50862	P	0.007397	0.31425	N	0.222822	1	0.81001	D	0.695	0.17993	N	2.95	0.09635	T	-2.42	0.53096	N	0.442	0.60410	-1.1983	0.00163	T	0.042	0.18202	T	10	0.47138333	0.59883	T	0.037314	0.57541	D	0.254	0.56428	0.727	0.86111	0.530852358449	0.52733	0.7634971630154191	0.76297	0.607455808728	0.55555	0.344899773598	0.17168	T	0.271746	0.64409	T	-0.108354	0.35039	T	-0.393419	0.34152	T	0.738627551699252	0.42663	D	0.732227	0.45757	T	0.33670285	0.56016	0.38002715	0.63044	0.33670285	0.56016	0.38002715	0.63044	-10.061	0.74276	D	.	.	0.844	0.79432	P	.;.;.;.	.;.;.;.	4.899048	0.80508	27.3	0.99731050189706616	0.82761	0.97118	0.72795	D	AEFBI	0.814060	0.73638	D	0.420087935551001	0.62526	4.470066	0.4971641940229	0.67801	5.133027	0.993659247621036	0.33302	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	6.689000	0.74392	9.809000	0.81737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:0.0:1.0:0.0	18.426	0.90554	533	0.73433	.;Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal;.;Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, 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	.	.	.	.	.	.	.	.	0.1071	99.78	52	chr12	111702254	.	G	C	99.78	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-1.271;DP=966;ExcessHet=0.3672;FS=437.102;InbreedingCoeff=-0.1794;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=0.741;SOR=9.19	GT:AD:DP:GQ:PL	0/1:58,31:89:60:60,0,794	11	0	3	5
chr12	111729836	111729836	G	A	exonic	ACAD10	.	stopgain	ACAD10:NM_025247:exon10:c.G1274A:p.W425X,ACAD10:NM_001136538:exon11:c.G1367A:p.W456X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	9.076e-05	0	0	0	0	7.508e-05	0	0.0004	7.12e-05	11	154602	rs199879065	6.02e-05	6.02e-05	3.948e-05	8.113e-05	0.0004	4.961e-05	4.626e-05	0.0003	0.0003	0	4.472e-05	0	0	0	0.0002	3.777e-05	9.935e-05	0.0004	1.972e-05	1.97e-05	0	4.036e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.554e-05	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.84330	D	0.059699	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.345	0.40864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387397	0.89171	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	9.305369	0.98750	40	0.99364516249098822	0.61155	0.94985	0.63021	D	AEFBI	0.061599	0.11787	N	0.776700428194037	0.84631	8.341643	0.61920134202971	0.76333	6.472086	0.993850986966993	0.33383	0.706548	0.73137	0	0.724815	0.89359	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	5.37	5.37	0.76949	5.666000	0.67729	9.532000	0.80949	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.528000	0.29660	0.0:0.0:1.0:0.0	18.685	0.91519	485	0.77085	Aminoglycoside phosphotransferase;.;Aminoglycoside phosphotransferase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1913.33	34	chr12	111729836	.	G	A	1913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.536;DP=779;ExcessHet=0;FS=1.366;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-2.544;SOR=0.863	GT:AD:DP:GQ:PL	0/1:65,74:139:99:1927,0,1704	18	0	1	0
chr12	113437894	113437894	C	T	exonic	SDSL	.	nonsynonymous SNV	SDSL:NM_001304993:exon8:c.C805T:p.R269C,SDSL:NM_138432:exon9:c.C805T:p.R269C	.	.	.	.	.	.	.	.	.	.	.	3310553	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.804	0.403040390525	7.7e-05	.	6.078e-05	9.794e-05	0	0	0	9.215e-05	0	0	5.17e-05	8	154602	rs201500836	3.441e-05	3.489e-05	3.422e-05	3.459e-05	9.066e-05	2.647e-05	2.389e-05	2.837e-05	2.515e-05	9.066e-05	0	0	2.528e-05	0	0	3.789e-05	3.335e-05	2.353e-05	3.941e-05	3.94e-05	2.568e-05	5.379e-05	7.236e-05	1.715e-05	1.129e-05	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	4.409e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.977	0.73820	D	0.000311	0.45977	D	0.147724	0.99999	0.58761	D	3.885	0.96017	H	-4.16	0.96826	D	-6.32	0.90852	D	0.696	0.73826	1.067	0.98522	D	0.952	0.98429	D	10	0.97514284	0.97253	D	0.40304	0.93438	D	0.804	0.93621	.	.	0.854971528788	0.85356	0.6046161801998249	0.60392	0.198190742643	0.22196	0.514321923256	0.40828	T	0.779089	0.94152	D	0.0884539	0.63014	D	0.12595	0.78627	D	0.993161082267761	0.83858	D	0.959004	0.84537	D	0.90415365	0.91757	0.8068393	0.88700	0.90415365	0.91758	0.8068393	0.88701	-9.086	0.68248	D	.	.	0.217	0.46061	B	.;.	.;.	5.235224	0.87878	29.4	0.9992364556025275	0.98917	0.85017	0.44117	D	AEFDBI	0.789560	0.71871	D	0.576425273647234	0.71705	5.69167	0.406699117087261	0.61980	4.40624	4.92382484656185E-4	0.07150	0.693126	0.56070	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.12	3.15	0.35301	0.212000	0.17289	1.420000	0.26356	0.576000	0.29215	0.932000	0.32345	1.000000	0.68203	0.654000	0.32802	0.1685:0.8315:0.0:0.0	12.43	0.54905	889	0.27310	Pyridoxal-phosphate dependent enzyme;Pyridoxal-phosphate dependent enzyme	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	755.33	35	chr12	113437894	.	C	T	755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.835;DP=692;ExcessHet=0;FS=1.218;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.537;SOR=0.954	GT:AD:DP:GQ:PL	0/1:25,26:51:99:769,0,726	18	0	1	0
chr12	117024188	117024188	C	T	exonic	FBXW8	.	nonsynonymous SNV	FBXW8:NM_012174:exon9:c.C1211T:p.S404L,FBXW8:NM_153348:exon9:c.C1409T:p.S470L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.0923423773475	.	.	3.296e-05	9.612e-05	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs770239908	1.642e-05	1.642e-05	1.633e-05	1.65e-05	0.0002	1.111e-05	9.33e-06	9.791e-05	7.838e-05	5.974e-05	0	0	0	0	0	6.295e-06	1.656e-05	0.0002	3.285e-05	3.283e-05	2.569e-05	4.035e-05	0.0004	1.261e-05	7.98e-06	7.287e-05	3.028e-05	4.826e-05	0	0	0	0	0	0	0	0.0005	0.0004	0.001	0.78490	D	0.0	0.92824	D	0.994	0.90584	D	0.6	0.73362	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.57	0.75187	M	3.46	0.05249	T	-3.65	0.69950	D	0.745	0.79503	-1.1957	0.00185	T	0.064	0.26349	T	10	0.8160344	0.80842	D	0.092342	0.75873	D	0.347	0.66863	0.568	0.69034	0.412064437402	0.40821	.	.	0.484376826454	0.47346	0.57191824913	0.48950	T	0.697765	0.91270	D	-0.0516262	0.44199	T	-0.0197852	0.69042	D	0.937397181987762	0.60714	D	0.867113	0.56785	D	0.611861	0.73328	0.46592066	0.69009	0.611861	0.73329	0.46592066	0.69009	-8.115	0.61852	D	.	.	0.198	0.42126	B	.;.	.;.	4.344243	0.66670	25.0	0.99880651526454889	0.95653	0.99267	0.93693	D	AEFDGBI	0.735429	0.68124	D	0.606289650473127	0.73571	5.988075	0.555198718953126	0.71759	5.704149	0.999999999999831	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	5.168000	0.64817	5.869000	0.50514	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	0.0:1.0:0.0:0.0	19.312	0.94184	959	0.08690	WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1045.33	33	chr12	117024188	.	C	T	1045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.514;DP=717;ExcessHet=0;FS=0.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-1.189;SOR=0.556	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1059,0,1072	18	0	1	0
chr12	123853300	123853300	C	T	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon35:c.C6032T:p.S2011L,DNAH10:NM_001372106:exon36:c.C6386T:p.S2129L	.	426	1094	2	0	0	2	0.000913242	.	.	.	2248403	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.636	0.235921408532	.	.	0	0	0	0	0	0	0	0	.	.	.	rs774732784	1.164e-05	1.231e-05	9.537e-06	1.377e-05	0.0009	7.09e-06	5.8e-06	0.0003	0.0002	0	2.245e-05	0	0	0	0.0009	5.4e-06	3.315e-05	3.5e-05	1.972e-05	1.97e-05	0	4.038e-05	0.0004	5.24e-06	2.45e-06	7.296e-05	3.031e-05	2.415e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	1.0	0.90584	D	0.99	0.78936	D	0.000005	0.62929	U	0.000000	1	0.81001	D	3.36	0.91202	M	.	.	.	.	.	.	.	.	0.030	0.82858	D	0.417	0.76333	T	10	0.8540195	0.84591	D	0.235921	0.88477	D	0.636	0.86078	.	.	0.407357902709	0.40350	0.7544805231164302	0.75395	0.596564890784	0.54890	0.869318246841	0.92471	D	0.182741	0.53486	T	0.208552	0.74693	D	0.14466	0.79844	D	0.973719185660883	0.70209	D	0.989814	0.96735	D	0.89252096	0.90724	0.7738875	0.86656	0.89252096	0.90725	0.7738875	0.86657	-15.519	0.96949	D	.	.	0.802	0.77385	P	.;.	.;.	5.469181	0.91256	32	0.99887583822775261	0.96204	0.98770	0.86628	D	AEFDBI	0.928077	0.91173	D	1.04237256726394	0.96906	15.30927	0.963181801052983	0.97779	16.75093	0.999999999999996	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	7.893000	0.85877	7.619000	0.62229	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:1.0:0.0:0.0	20.422	0.99051	553	0.71930	Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1;Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1	.	.	.	.	.	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	0.001512	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1494.33	34	chr12	123853300	.	C	T	1494.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=738;ExcessHet=0;FS=2.483;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-1.297;SOR=0.941	GT:AD:DP:GQ:PL	0/1:46,61:107:99:1508,0,905	18	0	1	0
chr12	131756617	131756617	A	G	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_001261411:exon11:c.A1693G:p.T565A,SFSWAP:NM_004592:exon11:c.A1693G:p.T565A	.	429	1049	43	1	0	45	0.0209986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0036	0.00658946	0.0081	0.0008	0.0040	0.0001	0.0002	0.0068	0.0097	0.0310	0.0069792	1079	154602	rs145713017	0.0068	0.0067	0.0060	0.0075	0.0267	0.0066	0.0066	0.0257	0.0254	0.0009	0.0035	0.0129	5.067e-05	0.0003	0.0131	0.0059	0.0077	0.0267	0.0043	0.0043	0.0041	0.0045	0.0232	0.0040	0.0039	0.0198	0.0184	0.0010	0	0.0024	0.0147	0	0.0004	0.0102	0.0057	0.0057	0.0232	0.649	0.06779	T	0.784	0.05488	T	0.0	0.02946	B	0.0	0.01387	B	0.543757	0.05329	N	1.222960	1	0.08975	N	0.55	0.14455	N	2.98	0.09356	T	-0.82	0.22508	N	0.057	0.02861	-0.9893	0.32778	T	0.018	0.07565	T	10	0.003207326	0.00054	T	.	.	.	0.009	0.00846	.	.	0.246926113748	0.24311	0.06098012363249152	0.06038	0.433426700291	0.43500	0.341311901808	0.16635	T	0.045552	0.27157	T	-0.663629	0.00060	T	-0.706436	0.05481	T	0.00248593843203346	0.00026	T	0.407159	0.12198	T	0.021300873	0.00725	0.019259317	0.00083	0.021300873	0.00725	0.019259317	0.00083	-2.676	0.07103	T	.	.	0.057	0.01143	B	.;.	.;.	-0.337826	0.02456	0.282	0.50248361701415034	0.04351	0.01620	0.05236	N	AEFDBI	0.018817	0.00600	N	-1.52238196200166	0.01703	0.07453626	-1.55110784914675	0.01968	0.08988614	0.0111596481021623	0.12139	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	-3.66	0.04200	-0.421000	0.07118	1.784000	0.28742	-0.057000	0.16691	0.000000	0.06391	0.009000	0.19889	0.008000	0.08271	0.2274:0.0973:0.5789:0.0964	5.562	0.16433	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008595	0.000000	0.006793	0.000000	0.000000	0.017241	0.012346	0.019084	0.07895	3712.77	33	chr12	131756617	.	A	G	3712.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.88;DP=788;ExcessHet=0;FS=0.656;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.59;ReadPosRankSum=-1.121;SOR=0.817	GT:AD:DP:GQ:PL	0/1:50,38:88:99:1040,0,1384	17	1	1	0
chr12	131986623	131986623	C	A	exonic	EP400	.	nonsynonymous SNV	EP400:NM_015409:exon6:c.C2039A:p.P680H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.115347263363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.974	0.57829	D	0.724	0.55036	P	0.000036	0.55875	D	0.165060	0.999972	0.19599	N	.	.	.	-2.72	0.90848	D	-3.45	0.69357	D	0.49	0.55886	0.155	0.85142	D	0.763	0.91932	D	10	0.6372287	0.68851	D	0.115347	0.79449	D	0.419	0.72855	.	.	0.701248488981	0.69865	0.27884371398960556	0.27797	0.174476109187	0.19649	0.379848241806	0.22235	T	.	.	.	0.0803606	0.62083	D	-0.122344	0.61609	T	0.924089193344116	0.58508	D	0.79822	0.44280	T	.	.	.	.	.	.	.	.	-5.812	0.44679	T	.	.	0.120	0.31608	B	.;.;.;.	.;.;.;.	2.833109	0.37356	20.5	0.74350277865889469	0.10663	0.97648	0.76144	D	AEFDBI	0.379902	0.46275	N	0.205480389063578	0.51465	3.327454	0.0918570512725766	0.44137	2.701412	0.999999952407902	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	4.5	0.54382	2.424000	0.44370	4.306000	0.42955	0.549000	0.26987	0.852000	0.30477	0.990000	0.31317	0.095000	0.18041	0.0:0.7874:0.1388:0.0738	9.853	0.40234	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2453.33	35	chr12	131986623	.	C	A	2453.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.158;DP=800;ExcessHet=0;FS=1.948;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-0.102;SOR=0.88	GT:AD:DP:GQ:PL	0/1:76,88:164:99:2467,0,2139	18	0	1	0
chr12	132139895	132139895	G	A	exonic	DDX51	.	nonsynonymous SNV	DDX51:NM_175066:exon13:c.C1805T:p.T602I	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	.	0.00399361	0.0026	0.0001	0.0002	0	0	0	0.0011	0.0183	0.0021798	337	154602	rs373307850	0.0013	0.0013	0.0007	0.0018	0.0202	0.0012	0.0012	0.0194	0.0191	0	0	0	0	0	0.0007	2.788e-05	0.0015	0.0202	0.0006	0.0006	0.0004	0.0009	0.0192	0.0005	0.0005	0.0161	0.0149	2.405e-05	0	0	0	0.0002	0	0	4.41e-05	0	0.0192	0.014	0.53172	D	0.169	0.30534	T	0.154	0.28120	B	0.096	0.30313	B	0.090368	0.20379	N	0.528189	1	0.08975	N	1.64	0.41913	L	4.52	0.01997	T	-2.35	0.51968	N	0.381	0.42247	-0.9927	0.31906	T	0.010	0.03811	T	10	0.01399985	0.00295	T	.	.	.	0.024	0.04979	0.378	0.39319	0.173771789658	0.16945	0.5066355591851106	0.50585	0.0522811991183	0.05748	0.367331445217	0.20448	T	0.097554	0.40049	T	-0.572745	0.00213	T	-0.579229	0.14613	T	0.0363768430400009	0.03046	T	0.962304	0.85835	D	0.07026668	0.15463	0.077966206	0.17419	0.07026668	0.15463	0.077966206	0.17418	-9.369	0.70041	D	.	.	0.093	0.14015	B	.	.	1.495567	0.19233	14.16	0.93376277425863308	0.23122	0.43215	0.27049	N	AEFBCI	0.142757	0.26528	N	-0.783173443084045	0.13748	0.6795659	-0.840740646392144	0.13510	0.7012357	0.0098092879823785	0.11916	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.77	2.95	0.33285	2.233000	0.42672	3.223000	0.36864	-0.106000	0.15538	0.045000	0.21207	0.789000	0.26847	0.002000	0.04165	0.1814:0.0:0.8186:0.0	9.055	0.35564	912	0.21483	Helicase, C-terminal|Helicase, 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	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1922.33	33	chr12	132139895	.	G	A	1922.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.68;DP=880;ExcessHet=0;FS=1.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-1.095;SOR=0.576	GT:AD:DP:GQ:PL	0/1:105,79:184:99:1936,0,2732	18	0	1	0
chr12	132717541	132717541	A	C	exonic	PGAM5	.	nonsynonymous SNV	PGAM5:NM_001170543:exon3:c.A473C:p.D158A,PGAM5:NM_001170544:exon3:c.A473C:p.D158A,PGAM5:NM_138575:exon3:c.A473C:p.D158A	.	415	1093	13	1	0	15	0.00681508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0624698735008	7.7e-05	0.00139776	0.0008	0	0	0	0	0.0002	0.0023	0.0049	0.000705	109	154602	rs374753399	0.0004	0.0004	0.0003	0.0006	0.0047	0.0004	0.0004	0.0043	0.0042	0	8.946e-05	0	5.038e-05	3.977e-05	0.0016	0.0002	0.0006	0.0047	0.0003	0.0003	0.0002	0.0004	0.0052	0.0002	0.0002	0.0036	0.0031	2.407e-05	0	0	0	0	0	0	0.0002	0.0005	0.0052	0.043	0.41364	D	0.277	0.21880	T	0.45	0.36066	B	0.081	0.28987	B	0.003676	0.34636	N	0.342032	0.999266	0.81001	D	0.475	0.13142	N	-0.57	0.71307	T	-2.69	0.57435	D	0.492	0.55453	-0.8772	0.49981	T	0.143	0.46440	T	10	0.01709047	0.00363	T	0.06247	0.68663	D	0.240	0.54500	.	.	0.80841635367	0.80661	0.6628291246251903	0.66219	0.53481705204	0.50869	0.400355875492	0.25118	T	0.13452	0.46581	T	-0.307887	0.07936	T	-0.215179	0.53198	T	0.031879049923245	0.02287	T	0.892211	0.62852	D	0.34753865	0.56875	0.31396988	0.57391	0.34753865	0.56876	0.31396988	0.57390	-8.984	0.67594	D	.	.	0.167	0.36772	B	.;.;.;.	.;.;.;.	2.392805	0.30731	18.53	0.96570464025732572	0.30293	0.98523	0.83690	D	AEFDBI	0.782367	0.71367	D	-0.2192095742632	0.32345	1.823192	-0.0225821244070074	0.38698	2.283605	0.999999999948139	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.6	5.6	0.84997	6.878000	0.75368	6.953000	0.57030	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.377000	0.26268	1.0:0.0:0.0:0.0	15.803	0.78247	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.004076	0.002924	0.000000	0.008621	0.003049	0.007576	0.02632	1110.33	36	chr12	132717541	.	A	C	1110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.48;DP=813;ExcessHet=0;FS=1.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=-0.043;SOR=0.84	GT:AD:DP:GQ:PL	0/1:86,42:128:99:1124,0,2252	18	0	1	0
chr13	20591006	20591006	A	G	exonic	IFT88	.	nonsynonymous SNV	IFT88:NM_001318491:exon4:c.A193G:p.T65A,IFT88:NM_001353573:exon4:c.A193G:p.T65A,IFT88:NM_001353574:exon4:c.A193G:p.T65A,IFT88:NM_001353575:exon4:c.A193G:p.T65A,IFT88:NM_001353571:exon5:c.A250G:p.T84A,IFT88:NM_001353572:exon5:c.A250G:p.T84A,IFT88:NM_001353578:exon5:c.A250G:p.T84A,IFT88:NM_006531:exon5:c.A250G:p.T84A,IFT88:NM_001318493:exon6:c.A277G:p.T93A,IFT88:NM_001353565:exon6:c.A277G:p.T93A,IFT88:NM_001353567:exon6:c.A277G:p.T93A,IFT88:NM_001353569:exon6:c.A277G:p.T93A,IFT88:NM_001353566:exon7:c.A277G:p.T93A,IFT88:NM_001353570:exon7:c.A277G:p.T93A,IFT88:NM_001353576:exon7:c.A277G:p.T93A,IFT88:NM_001353577:exon7:c.A277G:p.T93A,IFT88:NM_175605:exon7:c.A277G:p.T93A,IFT88:NM_001353568:exon8:c.A250G:p.T84A	.	.	.	.	.	.	.	.	.	.	.	1655186	not_provided|IFT88-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.131	0.0233042393531	0.0014	0.00179712	0.0005	0.0055	0.0003	0.0001	0	1.499e-05	0	6.059e-05	0.0004916	76	154602	rs148678288	0.0002	0.0002	0.0002	0.0002	0.0058	0.0002	0.0002	0.0051	0.0049	0.0058	0.0004	0	0	0	0.0016	4.237e-05	0.0008	1.168e-05	0.0014	0.0015	0.0014	0.0015	0.0048	0.0013	0.0012	0.0042	0.0040	0.0048	0	0.0009	0	0	0	0.0034	2.942e-05	0.0024	0	0.16	0.23813	T	0.355	0.18071	T	0.994	0.66517	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.14	0.59869	M	1.46	0.32482	T	-2.53	0.54864	D	0.736	0.73645	-0.8961	0.48380	T	0.173	0.51579	T	10	0.01053673	0.00234	T	0.023304	0.46264	T	0.131	0.35738	.	.	0.553307244281	0.54988	0.5182235679521918	0.51745	0.0440779985786	0.04745	0.58797121048	0.51208	T	0.263729	0.63544	T	-0.248009	0.14343	T	-0.127243	0.61202	T	0.0528821559847102	0.05999	T	0.913209	0.69058	D	0.2507732	0.48082	0.19941637	0.43822	0.2507732	0.48082	0.19941637	0.43821	.	.	.	.	.	0.130	0.30291	B	.;.	.;.	4.464379	0.69511	25.4	0.99719806139915546	0.81984	0.99047	0.90450	D	AEFI	0.873359	0.79568	D	0.651174638933031	0.76447	6.487821	0.664342512566872	0.79682	7.134444	0.999994640925726	0.74766	0.651	0.46895	0	0.588015	0.36545	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.43	5.43	0.79006	7.573000	0.81745	11.115000	0.86412	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.950	0.70713	564	0.70960	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.015152	0.008152	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	1561.33	34	chr13	20591006	.	A	G	1561.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.685;DP=758;ExcessHet=0;FS=2.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.314;SOR=0.526	GT:AD:DP:GQ:PL	0/1:66,73:139:99:1575,0,1513	18	0	1	0
chr13	25096807	25096807	T	G	exonic	PABPC3	.	nonsynonymous SNV	PABPC3:NM_030979:exon1:c.T609G:p.D203E	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.00241669620859	.	.	9.884e-05	9.61e-05	8.637e-05	0	0	0.0001	0	6.056e-05	8.41e-05	13	154602	rs779683088	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	9.766e-05	0.0011	0.0008	2.987e-05	0.0002	0	0	1.872e-05	0.0019	0.0001	0.0001	4.637e-05	8.53e-05	9.185e-05	8.989e-05	8.05e-05	0.0001	4.95e-05	3.957e-05	5.841e-05	4.238e-05	0	0	6.531e-05	0	0	0	0.0068	0.0001	0.0009	0	0.004	0.65419	D	0.088	0.40586	T	0.91	0.50240	P	0.783	0.57419	P	0.000182	0.48115	U	0.000000	0.962667	0.38303	D	1.325	0.33218	L	2.34	0.16351	T	-2.93	0.61284	D	0.381	0.42247	-1.1137	0.02770	T	0.049	0.21026	T	10	0.21123943	0.37545	T	0.002417	0.04757	T	0.165	0.42395	0.493	0.58048	0.349647731962	0.34572	0.18151320974086962	0.18070	0.227216289415	0.25271	0.500553309917	0.38905	T	0.05823	0.30786	T	-0.20151	0.20586	T	-0.527232	0.19565	T	0.18815690279007	0.19736	T	0.910909	0.68443	D	0.5260519	0.68606	0.38841578	0.63686	0.5260519	0.68607	0.38841578	0.63686	-7.488	0.57526	T	.	.	0.267	0.50091	B	.	.	1.461453	0.18842	13.95	0.99000872863756118	0.50148	0.44487	0.27329	N	AEFGBCI	0.080606	0.16300	N	-0.697240329643403	0.16100	0.8173146	-0.851797080682896	0.13245	0.6860047	0.00242389478265349	0.09418	0.706298	0.61202	0	0.383324	0.06291	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	1.27	-2.55	0.05922	0.852000	0.27417	0.512000	0.19089	-2.394000	0.00296	1.000000	0.71638	0.999000	0.35428	0.800000	0.37734	0.0:0.3186:0.0:0.6814	6.901	0.23461	929	0.16858	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	2512.33	243	chr13	25096807	.	T	G	2512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=3394;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.47;MQRankSum=4.66;QD=10.13;ReadPosRankSum=0.183;SOR=0.681	GT:AD:DP:GQ:PL	0/1:151,97:248:99:2526,0,4643	18	0	1	0
chr13	25097021	25097021	G	0	exonic	PABPC3	.	.	.	.	424	831	13	0	254	267	0.00776119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	1961.21	262	chr13	25097021	.	G	*	1961.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.31;DP=4417;ExcessHet=25.4433;FS=7.047;InbreedingCoeff=-0.7273;MLEAC=12;MLEAF=0.316;MQ=59.32;MQRankSum=-8.053;QD=0.46;ReadPosRankSum=-0.802;SOR=1.348	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,38:283:99:0|1:25096924_A_G:858,0,10173:25096924	7	0	12	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	1939.17	262	chr13	25097025	.	TTAAGC	*	1939.17	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.93;DP=4472;ExcessHet=25.4433;FS=5.818;InbreedingCoeff=-0.7273;MLEAC=12;MLEAF=0.316;MQ=59.31;MQRankSum=-8.049;QD=0.45;ReadPosRankSum=-0.761;SOR=1.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,38:283:99:0|1:25096924_A_G:858,0,10173:25096924	7	0	12	0
chr13	27440324	27440324	G	A	exonic	MTIF3	.	nonsynonymous SNV	MTIF3:NM_001166261:exon3:c.C125T:p.S42F,MTIF3:NM_001166262:exon3:c.C125T:p.S42F,MTIF3:NM_152912:exon3:c.C125T:p.S42F,MTIF3:NM_001166263:exon4:c.C125T:p.S42F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0153063112214	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs768292785	1.094e-05	1.094e-05	0	2.2e-05	0.0002	6.48e-06	5.24e-06	9.791e-05	7.838e-05	0	0	0	0	0	0	0	3.311e-05	0.0002	1.969e-05	1.968e-05	0	4.027e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.045	0.40832	D	0.118	0.36233	T	0.744	0.43069	P	0.31	0.41396	B	0.416907	0.04624	N	1.328460	1	0.08975	N	2.075	0.57047	M	1.34	0.34841	T	-1.83	0.42957	N	0.254	0.31027	-1.0026	0.29168	T	0.095	0.36003	T	10	0.12001258	0.22723	T	0.015306	0.35967	T	0.042	0.11227	0.249	0.18602	0.526892676112	0.52336	0.314905481265568	0.31403	0.494575833261	0.48015	0.275910198689	0.06928	T	0.035069	0.23573	T	-0.296915	0.08954	T	-0.461621	0.26422	T	0.141182392835617	0.16377	T	0.627137	0.24302	T	0.03272103	0.03351	0.061491728	0.11881	0.03272103	0.03351	0.061491728	0.11881	-4.128	0.25701	T	.	.	0.118	0.25166	B	.;.;.	.;.;.	1.512965	0.19433	14.26	0.55399648032757731	0.05334	0.12383	0.17235	N	AEFBI	0.141197	0.26331	N	-0.329856999218913	0.28019	1.542006	-0.444134175930706	0.23715	1.294773	0.999814587454066	0.43459	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.82	2.7	0.31007	1.054000	0.30064	1.840000	0.29181	0.676000	0.76740	0.001000	0.13787	0.007000	0.19602	0.016000	0.10718	0.0761:0.2339:0.4616:0.2284	4.445	0.11014	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1861.33	34	chr13	27440324	.	G	A	1861.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.93;DP=761;ExcessHet=0;FS=4.031;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.694;SOR=1.028	GT:AD:DP:GQ:PL	0/1:73,66:139:99:1875,0,1994	18	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5180.53	132	chr13	42303097	.	G	C	5180.53	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.864;DP=2672;ExcessHet=20.8569;FS=361.789;InbreedingCoeff=-0.6834;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=0.708;SOR=13.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,34:133:99:.:.:110,0,2584:.	3	0	15	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	487.46	49	chr13	48459808	.	T	C	487.46	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-4.073;DP=1639;ExcessHet=4.0268;FS=118.507;InbreedingCoeff=-0.2619;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.426;SOR=11.168	GT:AD:DP:GQ:PL	0/1:96,37:133:89:89,0,1770	11	0	8	0
chr13	49630893	49630893	G	A	exonic	ARL11	.	stopgain	ARL11:NM_138450:exon2:c.G446A:p.W149X	.	416	1056	49	1	0	51	0.0235784	.	.	.	702719	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0080	0.00579073	0.0099	0.0011	0.0073	0	0.0068	0.0133	0.0165	0.0100	0.0096894	1498	154602	rs34301344	0.0097	0.0097	0.0095	0.0098	0.0225	0.0095	0.0095	0.0193	0.0181	0.0017	0.0078	0.0214	0	0.0062	0.0225	0.0101	0.0097	0.0107	0.0080	0.0080	0.0080	0.0079	0.0112	0.0076	0.0074	0.0106	0.0103	0.0016	0.0329	0.0097	0.0187	0.0004	0.0063	0.0238	0.0112	0.0104	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.259	0.29313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275648	0.80940	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.128608	0.98504	39	0.99204731995395834	0.55381	0.95789	0.66160	D	AEFDBI	0.082690	0.16746	N	0.707159327269664	0.80103	7.220512	0.539516920279059	0.70672	5.53964	0.999999996113154	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.550183	0.17644	0	.	.	5.32	5.32	0.75377	3.180000	0.50595	11.047000	0.85249	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.527000	0.29637	0.0:0.0:1.0:0.0	17.994	0.89101	414	0.81871	.	.	.	.	.	rs34301344	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.018630	0.005051	0.017663	0.014620	0.000000	0.017241	0.027439	0.018939	0.02632	2393.33	39	chr13	49630893	.	G	A	2393.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.712;DP=823;ExcessHet=0;FS=6.16;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=1.09;SOR=1.171	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,86:148:99:1|0:49630889_T_C:2407,0,2306:49630889	18	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	830.1	154	chr13	69882456	.	G	A	830.1	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.494;DP=2397;ExcessHet=13.8672;FS=177.744;InbreedingCoeff=-0.5332;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=0.578;SOR=13.216	GT:AD:DP:GQ:PL	0/1:99,38:149:33:33,0,1398	6	0	13	0
chr13	77698400	77698400	G	T	exonic	SLAIN1	.	nonsynonymous SNV	SLAIN1:NM_001242868:exon1:c.G487T:p.G163W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.127909111297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.472e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	.	.	.	.	.	.	0.951605	0.08283	N	0.977000	1	0.81001	D	0.805	0.20218	L	.	.	.	-1.49	0.36385	N	0.396	0.43706	-1.0268	0.21494	T	0.114	0.40672	T	7	0.17253211	0.32032	T	0.127909	0.80978	D	0.064	0.18567	0.206	0.12216	0.043077524339	0.03247	0.23083842492085718	0.22998	.	.	0.900897026062	0.96539	D	0.018187	0.14708	T	-0.0537872	0.43872	T	-0.315038	0.43115	T	0.18932327521826	0.19804	T	0.544846	0.18617	T	0.10902851	0.25777	0.07904426	0.17760	0.10902851	0.25777	0.07904426	0.17759	-7.741	0.59292	D	.	.	0.268	0.50250	B	.;.	.;.	3.361630	0.46415	22.3	0.98404790172089418	0.41105	0.45815	0.27621	N	AEFDBHCIJ	0.324981	0.42670	N	-0.148566166162444	0.35295	2.025524	-0.114730583157251	0.34796	2.005615	0.99999996577964	0.74766	0.495885	0.18260	0	0.298843	0.05288	2	0.519653	0.09787	0	0.554799	0.18163	0	.	.	4.35	2.57	0.29928	1.374000	0.33889	4.197000	0.42443	0.566000	0.28629	0.980000	0.35271	1.000000	0.68203	0.633000	0.32236	0.2183:0.0:0.7817:0.0	6.502	0.21373	136	0.94604	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	566.33	38	chr13	77698400	.	G	T	566.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.014;DP=614;ExcessHet=0;FS=12.078;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=-1.55;SOR=0.763	GT:AD:DP:GQ:PL	0/1:18,22:40:99:580,0,428	18	0	1	0
chr13	87677246	87677246	G	A	exonic	SLITRK5	.	nonsynonymous SNV	SLITRK5:NM_001384609:exon2:c.G1858A:p.V620I,SLITRK5:NM_001384610:exon2:c.G1858A:p.V620I,SLITRK5:NM_015567:exon2:c.G1858A:p.V620I	.	430	1070	22	0	0	22	0.0101758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00947684562837	0.0010	0.000798722	0.0017	9.612e-05	0.0011	0.0001	0	0.0020	0.0011	0.0035	0.0015459	239	154602	rs77465795	0.0012	0.0012	0.0010	0.0014	0.0071	0.0012	0.0011	0.0054	0.0048	0.0005	0.0015	0.0124	2.519e-05	5.616e-05	0.0071	0.0007	0.0023	0.0043	0.0012	0.0012	0.0011	0.0012	0.0037	0.0010	0.0010	0.0024	0.0020	0.0001	0.0099	0.0022	0.0121	0.0002	9.416e-05	0.0034	0.0009	0.0019	0.0037	0.271	0.15984	T	0.505	0.11004	T	0.01	0.15535	B	0.005	0.11217	B	0.004255	0.33945	N	0.237331	0.976071	0.40286	D	1.04	0.26193	L	0.36	0.57880	T	-0.13	0.08971	N	0.111	0.09772	-1.0452	0.15767	T	0.080	0.31795	T	9	0.004166156	0.00082	T	0.009477	0.24832	T	0.074	0.21613	.	.	0.102598925029	0.09809	0.37218762770052394	0.37132	0.321641541564	0.34361	0.492257088423	0.37752	T	0.102631	0.41054	T	-0.450531	0.01122	T	-0.420077	0.31065	T	0.0210491029008831	0.00806	T	0.738226	0.35599	T	0.0831083	0.19177	0.091754	0.21590	0.0831083	0.19176	0.091754	0.21589	-3.537	0.16954	T	.	.	0.088	0.11845	B	.	.	2.962593	0.39457	21.0	0.90769178803517658	0.20018	0.94180	0.60355	D	AEFDBCI	0.708795	0.66309	D	-0.0559442934036441	0.39336	2.318135	0.144068693584193	0.46829	2.922546	0.999999997920561	0.74766	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	5.47	5.47	0.80345	5.432000	0.66256	10.016000	0.83115	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.809000	0.38129	0.0:0.0:1.0:0.0	16.804	0.85483	927	0.17636	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.009511	0.000000	0.000000	0.000000	0.006098	0.015152	0.02632	2156.33	35	chr13	87677246	.	G	A	2156.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.593;DP=758;ExcessHet=0;FS=0.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=0.685;SOR=0.612	GT:AD:DP:GQ:PL	0/1:69,80:149:99:2170,0,2088	18	0	1	0
chr13	94286354	94286354	A	G	exonic	GPC6	.	nonsynonymous SNV	GPC6:NM_005708:exon5:c.A883G:p.M295V	Omodysplasia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.0287180941684	.	.	1.657e-05	9.649e-05	0	0	0	1.505e-05	0	0	1.29e-05	2	154602	rs776069396	8.211e-06	8.209e-06	8.169e-06	8.252e-06	5.977e-05	4.38e-06	3.46e-06	9.9e-06	3.7e-06	5.977e-05	2.238e-05	0	0	0	0	7.196e-06	1.656e-05	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.008	0.67890	D	0.372	0.34134	B	0.392	0.44215	B	0.000000	0.84330	D	0.000000	0.999962	0.52935	D	2.215	0.62545	M	0.65	0.52642	T	-3.22	0.64939	D	0.843	0.83885	-0.8027	0.54985	T	0.204	0.56183	T	10	0.7624525	0.76450	D	0.028718	0.51350	D	0.334	0.65620	0.632	0.76810	0.764459265346	0.76231	0.8294630070491447	0.82904	0.486265971205	0.47492	0.817727088928	0.84680	D	0.235626	0.72571	T	0.00331634	0.52110	T	0.00365577	0.70573	D	0.813459157943726	0.47294	D	0.854315	0.85550	D	0.58346015	0.71797	0.7223829	0.83606	0.58346015	0.71798	0.7223829	0.83607	-11.595	0.82822	D	.	.	0.474	0.65181	A	.;.	.;.	3.885537	0.56503	23.7	0.99074344652871638	0.51810	0.98319	0.81588	D	AEFBI	0.923270	0.89948	D	0.412843991083931	0.62127	4.423701	0.511058932574749	0.68734	5.261025	0.999999999999817	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.64	5.64	0.86480	7.119000	0.76770	11.231000	0.90101	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	1.0:0.0:0.0:0.0	15.865	0.78836	961	0.08552	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	574.33	37	chr13	94286354	.	A	G	574.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.102;DP=677;ExcessHet=0;FS=1.058;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=-0.919;SOR=0.917	GT:AD:DP:GQ:PL	0/1:39,23:62:99:588,0,1049	18	0	1	0
chr13	99970414	99970434	GGCGGCGGCGGCGGCGGCGGC	-	exonic	ZIC5	.	nonframeshift deletion	ZIC5:NM_033132:exon1:c.1242_1262del:p.P418_P424del	.	146	836	5	0	535	540	0.00298151	.	.	.	725540	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0130	.	0.0092	0	0.0043	0	0.0015	0.0092	0.0167	0.0153	0.0001153	3	26028	rs774118755	0.0091	0.0066	0.0079	0.0104	0.0476	0.0089	0.0089	0.0455	0.0447	0.0018	0.0298	0.0343	0.0005	0.0085	0.0165	0.0074	0.0106	0.0476	0.0052	0.0048	0.0057	0.0047	0.0130	0.0049	0.0048	0.0100	0.0090	0.0010	0	0.0059	0.0121	0.0006	0.0027	0.0290	0.0075	0.0061	0.0130	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	9738.05	34	chr13	99970413	.	TGGCGGCGGCGGCGGCGGCGGC	T	9738.05	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.135;DP=1133;ExcessHet=0.6689;FS=0;InbreedingCoeff=0.05;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=24.59;ReadPosRankSum=0.249;SOR=0.718	GT:AD:DP:GQ:PL	0/1:19,69:88:99:2796,0,532	17	0	2	0
chr13	99970422	99970422	C	0	exonic	ZIC5	.	.	.	.	80	1344	34	1	63	99	0.0132159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	697.52	34	chr13	99970422	.	C	*	697.52	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.919;DP=909;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=3.83;ReadPosRankSum=1.5;SOR=0.68	GT:AD:DP:GQ:PL	0/1:19,69:88:99:2796,0,532	17	0	2	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2667	1262.59	138	chr13	102737670	.	C	G	1262.59	.	AC=8;AF=0.267;AN=30;BaseQRankSum=-5.507;DP=3002;ExcessHet=4.0268;FS=282.115;InbreedingCoeff=-0.3588;MLEAC=9;MLEAF=0.3;MQ=59.98;MQRankSum=0;QD=0.86;ReadPosRankSum=2.02;SOR=12.288	GT:AD:DP:GQ:PL	0/1:114,52:175:99:291,0,2666	7	0	8	4
chr13	113044858	113044858	C	G	exonic	MCF2L	.	nonsynonymous SNV	MCF2L:NM_001366645:exon1:c.C134G:p.T45R,MCF2L:NM_001366646:exon1:c.C134G:p.T45R	.	429	1080	11	2	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00253447750239	.	0.00119808	0.0013	0	0.0006	0	0	0.0005	0	0.0066	0.0010414	161	154602	rs200111582	0.0006	0.0006	0.0004	0.0008	0.0068	0.0006	0.0005	0.0063	0.0061	2.987e-05	0.0006	0.0035	2.519e-05	0.0002	0.0033	7.645e-05	0.0008	0.0068	0.0004	0.0004	0.0003	0.0004	0.0054	0.0003	0.0003	0.0038	0.0032	7.216e-05	0	0.0004	0.0029	0	9.42e-05	0	0.0001	0.0005	0.0054	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.24	0.36691	T	-1.27	0.36189	N	0.18	0.19459	-1.0190	0.24041	T	0.051	0.21533	T	8	0.0039972663	0.00077	T	0.002534	0.05065	T	0.025	0.05312	0.16	0.06396	0.179529687257	0.17594	.	.	.	.	.	.	.	.	.	.	-0.658608	0.00064	T	-0.715654	0.05008	T	0.00932054833725134	0.00119	T	0.39556	0.09932	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11510	B	.;.	.;.	-0.163453	0.03281	0.563	0.40551858735703439	0.02869	0.04407	0.09994	N	AEFDGBCI	0.107016	0.21334	N	-1.16372843866563	0.05558	0.253669	-1.27815412306527	0.04727	0.2236351	0.999999745764187	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.28	-0.89	0.10041	-2.486000	0.01054	-2.921000	0.03228	-0.929000	0.02155	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2084:0.4165:0.0:0.3751	2.711	0.04855	994	0.00715	.;CRAL-TRIO lipid binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	3672.83	37	chr13	113044858	.	C	G	3672.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.05;DP=887;ExcessHet=0.119;FS=0.926;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.751;SOR=0.759	GT:AD:DP:GQ:PL	0/1:66,66:132:99:1619,0,1485	17	0	2	0
chr13	113404796	113404796	C	T	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.G3394A:p.D1132N,LOC101928841:NM_001375393:exon2:c.G3394A:p.D1132N	.	783	738	1	0	0	1	0.000677048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.39492	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.02559	.	.	.	.	.	.	.	0.07025936	0.10197	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006884	0.06306	T	.	.	.	.	.	.	.	.	.	0.442056	0.12263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.21315	B	.	.	0.705175	0.10739	7.429	0.74573257084148314	0.10746	0.00272	0.01477	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999932096726322	0.46732	0.080785	0.02172	0	0.096583	0.02683	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0577867	0.13796	2.03	-0.0172	0.13294	-0.976000	0.03896	-3.712000	0.02587	-1.174000	0.01395	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7123:0.0:0.2877	6.385	0.20759	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2424.33	69	chr13	113404796	.	C	T	2424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.025;DP=1641;ExcessHet=0;FS=2.309;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=2.69;SOR=0.544	GT:AD:DP:GQ:PL	0/1:124,97:221:99:2438,0,3398	18	0	1	0
chr13	114301925	114301925	G	A	exonic	UPF3A	.	nonsynonymous SNV	UPF3A:NM_001353644:exon7:c.G599A:p.S200N,UPF3A:NM_001353646:exon7:c.G599A:p.S200N,UPF3A:NM_001353649:exon7:c.G587A:p.S196N,UPF3A:NM_001353647:exon8:c.G599A:p.S200N,UPF3A:NM_001353648:exon8:c.G599A:p.S200N,UPF3A:NM_080687:exon8:c.G1103A:p.S368N,UPF3A:NM_001353645:exon9:c.G599A:p.S200N,UPF3A:NM_001353650:exon9:c.G587A:p.S196N,UPF3A:NM_023011:exon9:c.G1202A:p.S401N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0131570505153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.393	0.10730	T	0.789	0.05707	T	0.002	0.15535	B	0.003	0.12133	B	0.608642	0.10888	N	0.847047	0.995395	0.23301	N	1.01	0.25309	L	-1.42	0.80645	T	-0.42	0.14193	N	0.106	0.12198	-0.9209	0.45431	T	0.248	0.61704	T	9	0.08412802	0.14067	T	0.013157	0.32344	T	0.077	0.22490	0.218	0.13932	0.826173596387	0.82452	0.028771188836604556	0.02827	0.161903528534	0.18264	0.361519306898	0.19607	T	0.001425	0.00883	T	-0.199017	0.20947	T	-0.52365	0.19925	T	0.0504586418347531	0.05581	T	0.519248	0.16884	T	0.019892972	0.00530	0.033765323	0.02327	0.019892972	0.00530	0.033765323	0.02326	-5.504	0.41905	T	.	.	0.086	0.17700	B	.;.	.;.	0.211766	0.05954	2.392	0.75584978553886684	0.11132	0.71590	0.35079	D	AEFBI	0.084446	0.17114	N	-0.564472322985564	0.20031	1.053027	-0.470573285432233	0.22969	1.250237	0.809908035207129	0.24336	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.94	1.66	0.23081	0.580000	0.23505	0.289000	0.16851	0.676000	0.76740	1.000000	0.71638	0.000000	0.08366	0.027000	0.12703	0.3857:0.0:0.4205:0.1938	3.160	0.06128	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	121.62	54	chr13	114301925	.	G	A	121.62	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.096;DP=1152;ExcessHet=0.119;FS=111.238;InbreedingCoeff=-0.1107;MLEAC=2;MLEAF=0.063;MQ=52.91;MQRankSum=-0.783;QD=0.92;ReadPosRankSum=0.896;SOR=7.327	GT:AD:DP:GQ:PL	0/1:58,23:81:40:40,0,1106	14	0	2	3
chr13	114301961	114301961	G	A	exonic	UPF3A	.	nonsynonymous SNV	UPF3A:NM_001353644:exon7:c.G635A:p.R212K,UPF3A:NM_001353646:exon7:c.G635A:p.R212K,UPF3A:NM_001353649:exon7:c.G623A:p.R208K,UPF3A:NM_001353647:exon8:c.G635A:p.R212K,UPF3A:NM_001353648:exon8:c.G635A:p.R212K,UPF3A:NM_080687:exon8:c.G1139A:p.R380K,UPF3A:NM_001353645:exon9:c.G635A:p.R212K,UPF3A:NM_001353650:exon9:c.G623A:p.R208K,UPF3A:NM_023011:exon9:c.G1238A:p.R413K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00234821491854	.	.	9.863e-06	0	0.0001	0	0	0	0	0	3.84e-05	1	26028	rs759100983	4.12e-06	4.788e-06	1.366e-06	6.906e-06	3.499e-05	1.48e-06	9.7e-07	9.29e-06	4.58e-06	0	0	0	0	0	0	0	4.994e-05	3.499e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.703	0.04134	T	1.0	0.01155	T	0.006	0.14655	B	0.003	0.12992	B	0.012620	0.29115	N	0.394400	1	0.08975	N	0.48	0.13178	N	1.51	0.30937	T	0.38	0.04776	N	0.151	0.23125	-1.0434	0.16294	T	0.039	0.16849	T	9	0.046508998	0.03852	T	0.002348	0.04562	T	0.078	0.22779	0.356	0.35734	0.401612077098	0.39776	0.06311413821706362	0.06250	0.17504778122	0.19705	0.287961244583	0.08626	T	3.09E-4	0.00078	T	-0.355202	0.04409	T	-0.748	0.03564	T	0.0395424161502822	0.03608	T	0.532847	0.17838	T	0.024213558	0.01230	0.028235402	0.01041	0.024213558	0.01230	0.028235402	0.01041	-4.139	0.26882	T	.	.	0.099	0.16756	B	.;.	.;.	0.084081	0.04895	1.477	0.50291753468666611	0.04358	0.10697	0.16129	N	AEFBI	0.057523	0.10724	N	-0.938258798303083	0.09957	0.4736444	-0.986646340486607	0.10085	0.5057153	0.817823663889522	0.24470	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.85	-2.11	0.06787	1.111000	0.30773	1.072000	0.23814	0.676000	0.76740	0.734000	0.28964	0.037000	0.21475	0.003000	0.05239	0.5026:0.281:0.2165:0.0	5.401	0.15593	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1070.33	41	chr13	114301961	.	G	A	1070.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=801;ExcessHet=0;FS=0.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.07;MQRankSum=-1.731;QD=12.9;ReadPosRankSum=0.631;SOR=0.586	GT:AD:DP:GQ:PL	0/1:45,38:83:99:1084,0,1292	18	0	1	0
chr14	20460843	20460843	A	G	exonic	PIP4P1	.	nonsynonymous SNV	PIP4P1:NM_001100814:exon2:c.T166C:p.F56L,PIP4P1:NM_144568:exon2:c.T145C:p.F49L	.	431	1087	4	0	0	4	0.00183655	.	.	.	3368794	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.00565257763652	.	.	0.0002	0	0	0	0	0.0001	0	0.0008	0.0001294	20	154602	rs140952087	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	0.0001	0.0006	0.0005	0	0	0	0	0	0.0008	0.0001	0.0002	0.0007	7.883e-05	7.874e-05	0.0001	5.374e-05	0.0006	4.496e-05	3.511e-05	0.0002	8.996e-05	2.408e-05	0	6.538e-05	0	0	0	0.0102	5.883e-05	0	0.0006	0.416	0.09958	T	0.681	0.06690	T	0.006	0.15535	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	0.999959	0.52396	D	.	.	.	.	.	.	0.17	0.10136	N	0.322	0.40765	-1.0699	0.09436	T	0.071	0.28871	T	9	0.038879633	0.02343	T	0.005653	0.14621	T	0.067	0.19503	0.378	0.39319	0.043077524339	0.03247	0.28668810835093983	0.28581	0.688937941176	0.60465	0.860193371773	0.91139	D	0.047593	0.27768	T	-0.338513	0.05491	T	-0.350577	0.39139	T	0.0964620133771349	0.11963	T	0.39716	0.25952	T	0.23022433	0.45773	0.18409641	0.41440	0.23022433	0.45773	0.18409641	0.41439	-2.715	0.07759	T	.	.	0.858	0.80194	P	.;.	.;.	3.159903	0.42806	21.6	0.97731876784667826	0.35622	0.92092	0.54927	D	AEFDGBCI	0.664998	0.63397	D	-0.334302106270216	0.27853	1.531528	-0.129038461335731	0.34225	1.966331	0.999999999538087	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	4.36	4.36	0.51643	4.426000	0.59629	11.170000	0.87939	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.776000	0.36750	1.0:0.0:0.0:0.0	12.723	0.56523	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	579.33	37	chr14	20460843	.	A	G	579.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.732;DP=690;ExcessHet=0;FS=5.796;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=0.013;SOR=0.237	GT:AD:DP:GQ:PL	0/1:43,24:67:99:593,0,1295	18	0	1	0
chr14	20640964	20640964	G	C	exonic	OR6S1	.	nonsynonymous SNV	OR6S1:NM_001001968:exon1:c.C728G:p.T243S	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.0084174518343	0.0003	.	7.414e-05	9.61e-05	0	0	0	8.993e-05	0.0022	0	5.82e-05	9	154602	rs146063086	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	9.9e-05	0.0002	0.0001	0	2.236e-05	0	0	0	0.0007	0.0001	8.279e-05	5.797e-05	7.228e-05	7.224e-05	7.709e-05	6.725e-05	0.0001	3.971e-05	3.127e-05	4.764e-05	3.338e-05	9.654e-05	0	0	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000103	0.50451	D	0.000000	0.998154	0.44569	D	3.255	0.89877	M	1.03	0.40469	T	-3.89	0.72820	D	0.716	0.71854	-0.0575	0.81046	T	0.377	0.73498	T	10	0.82145846	0.81348	D	0.008417	0.22282	T	0.498	0.78226	0.672	0.81002	0.813005471371	0.81125	0.18732797395886366	0.18650	0.108671175235	0.12253	0.264645278454	0.05457	T	0.008886	0.08127	T	-0.0436402	0.45408	T	-0.10878	0.62708	T	0.704077264210549	0.40913	D	0.728627	0.34357	T	0.9294395	0.94181	0.90759754	0.95517	0.9294395	0.94182	0.90759754	0.95518	-9.658	0.71839	D	.	.	0.448	0.62083	A	.	.	4.125437	0.61694	24.4	0.99725309728973455	0.82336	0.99479	0.96535	D	AEFGBI	0.819329	0.74038	D	1.00510971242637	0.95899	14.08313	0.931822759064233	0.96816	15.18462	0.999999999871656	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.62	5.62	0.85714	7.946000	0.87231	5.984000	0.52218	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	17.150	0.86654	940	0.13648	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1768.33	156	chr14	20640964	.	G	C	1768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.687;DP=1843;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.637;SOR=0.667	GT:AD:DP:GQ:PL	0/1:64,63:127:99:1782,0,1835	18	0	1	0
chr14	23955153	23955153	G	A	exonic	DHRS4	.	nonsynonymous SNV	DHRS4:NM_001282987:exon2:c.G247A:p.V83M,DHRS4:NM_001282988:exon2:c.G247A:p.V83M,DHRS4:NM_001282989:exon2:c.G247A:p.V83M,DHRS4:NM_001282990:exon2:c.G247A:p.V83M,DHRS4:NM_001282991:exon2:c.G247A:p.V83M,DHRS4:NM_021004:exon2:c.G247A:p.V83M	.	392	1126	3	1	0	5	0.00221533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.710	0.143895341407	.	0.00119808	0.0006	0	8.67e-05	0	0	0	0	0.0045	0.0002305	6	26028	rs566393352	0.0002	0.0002	8.987e-05	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0.0002	4.475e-05	0	0	0	0.0003	5.396e-06	0.0002	0.0030	0.0001	0.0001	8.991e-05	0.0002	0.0029	8.655e-05	7.249e-05	0.0018	0.0014	9.617e-05	0	0.0001	0	0	0	0	0	0	0.0029	0.028	0.48642	D	0.073	0.52389	T	0.979	0.90584	D	0.795	0.68536	P	0.000000	0.84330	D	0.000000	0.999845	0.49770	D	2.615	0.76484	M	0.49	0.90451	T	-2.51	0.57275	D	0.667	0.74462	0.698	0.93155	D	0.790	0.92889	D	10	0.030568749	0.01184	T	0.143895	0.82618	D	0.710	0.89650	0.781	0.90541	0.982328220797	0.98213	0.7038510119493194	0.70327	0.662870960301	0.58999	0.747107505798	0.74020	T	0.233511	0.93617	T	0.238286	0.77499	D	0.104505	0.77206	D	0.139137863310056	0.16201	T	.	.	.	0.8836937	0.89974	0.72215885	0.83593	0.8836937	0.89975	0.72215885	0.83593	-12.053	0.85773	D	.	.	0.652	0.72336	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.962571	0.82058	27.7	0.99757557141698328	0.84772	0.96834	0.71191	D	AEFDBI	0.896888	0.83845	D	0.486643055603548	0.66308	4.93356	0.411007873915376	0.62250	4.43726	0.999999999999757	0.74766	0.722319	0.85440	0	0.658105	0.61773	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	3.31	3.31	0.37025	8.826000	0.91659	6.769000	0.56555	0.361000	0.20101	1.000000	0.71638	1.000000	0.68203	0.188000	0.21541	0.0:0.0:1.0:0.0	12.196	0.53608	683	0.59664	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1421.33	33	chr14	23955153	.	G	A	1421.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.908;DP=740;ExcessHet=0;FS=7.407;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.68;MQRankSum=-7.4;QD=13.28;ReadPosRankSum=-2.719;SOR=1.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,42:107:99:0|1:23955153_G_A:1435,0,2431:23955153	18	0	1	0
chr14	23990300	23990300	G	A	exonic	DHRS4;DHRS4L2	.	nonsynonymous SNV	DHRS4:NM_001282989:exon2:c.G247A:p.V83M,DHRS4L2:NM_198083:exon2:c.G247A:p.V83M,DHRS4L2:NM_001193635:exon4:c.G163A:p.V55M	.	407	1112	3	0	0	3	0.0013471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.0528192301587	.	.	0.0004	0	8.693e-05	0	0	1.517e-05	0	0.0031	3.84e-05	1	26028	rs749227142	0.0002	0.0003	0.0001	0.0002	0.0019	0.0002	0.0002	0.0017	0.0016	2.99e-05	4.479e-05	0	7.56e-05	0	0	7.56e-05	0.0002	0.0019	7.899e-05	0.0001	6.435e-05	9.432e-05	0.0021	4.504e-05	3.518e-05	0.0011	0.0009	0	0	0	0	0	0	0	2.945e-05	0	0.0021	0.033	0.45039	D	0.04	0.50809	D	0.988	0.62325	D	0.814	0.58796	P	0.000000	0.84330	D	0.000000	0.999183	0.28917	N	.	.	.	-2.69	0.90451	D	-2.6	0.56301	D	0.554	0.57946	0.096	0.84101	D	0.699	0.89624	D	10	0.028217882	0.00957	T	0.052819	0.65221	D	0.449	0.75004	.	.	0.833830589278	0.83225	0.6631239900151187	0.66249	0.194413493711	0.21778	.	.	.	0.101827	0.90013	T	0.121258	0.66497	D	-0.063598	0.66080	T	0.151262298226357	0.17203	T	0.768523	0.39993	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.64559	B	.;.;.;.;.;.	.;.;.;.;.;.	3.227313	0.43993	21.8	0.95378234895911362	0.26800	0.79511	0.39414	D	AEFDBI	0.450208	0.50470	N	-0.516520065533862	0.21546	1.144228	-0.692394095694174	0.17151	0.910646	0.999817407935251	0.43459	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.669	0.65921	0	.	.	3.5	0.236	0.14733	5.562000	0.67049	7.553000	0.60314	-0.215000	0.08222	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.2084:0.0:0.6313:0.1603	5.221	0.14689	744	0.52588	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	297.33	34	chr14	23990300	.	G	A	297.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.425;DP=898;ExcessHet=0;FS=15.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.12;MQRankSum=-8.65;QD=1.67;ReadPosRankSum=1.89;SOR=0.552	GT:AD:DP:GQ:PL	0/1:151,27:178:99:311,0,4401	18	0	1	0
chr14	24507429	24507429	C	G	exonic	CMA1	.	nonsynonymous SNV	CMA1:NM_001836:exon2:c.G136C:p.G46R	.	424	1064	32	2	0	36	0.0166359	.	.	.	725649	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.152	0.0772632775056	0.0043	0.00279553	0.0045	0.0010	0.0041	0	0.0085	0.0058	0.0077	0.0023	0.0043078	666	154602	rs5246	0.0041	0.0041	0.0040	0.0042	0.0160	0.0040	0.0040	0.0133	0.0123	0.0009	0.0031	0.0085	0	0.0106	0.0160	0.0040	0.0040	0.0032	0.0038	0.0039	0.0037	0.0040	0.0052	0.0036	0.0035	0.0048	0.0046	0.0009	0.0022	0.0024	0.0078	0	0.0087	0.0204	0.0052	0.0081	0.0023	0.022	0.48642	D	0.124	0.35455	T	0.96	0.55278	D	0.54	0.48825	P	0.727327	0.06349	N	1.155740	1	0.08975	N	1.62	0.41497	L	0.22	0.59851	T	-4.26	0.76174	D	0.279	0.31590	-0.9096	0.46904	T	0.121	0.42187	T	10	0.0063990355	0.00145	T	0.077263	0.72728	D	0.152	0.39956	.	.	0.747323469624	0.74504	0.6557552196420782	0.65511	0.0036760046655	0.00316	0.349411666393	0.17835	T	0.490062	0.81502	T	-0.461918	0.00956	T	-0.434509	0.29423	T	0.0694968769853934	0.08580	T	0.465653	0.13651	T	0.44510096	0.63730	0.2611371	0.51887	0.44510096	0.63730	0.2611371	0.51886	-6.875	0.53114	T	.	.	0.269	0.50306	B	.	.	1.191773	0.15830	12.13	0.94053190833927425	0.24183	0.04018	0.09450	N	AEFBI	0.056840	0.10539	N	-0.545693039121945	0.20618	1.088279	-0.739930919868381	0.15970	0.8425658	0.00271298208751002	0.09654	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.9	-1.23	0.08977	0.250000	0.18007	-0.238000	0.10617	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4815:0.0:0.5185	8.535	0.32521	754	0.51307	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin 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	0.011581	0.015152	0.009511	0.017544	0.000000	0.008621	0.009146	0.011364	0.05263	2762.83	33	chr14	24507429	.	C	G	2762.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.837;DP=910;ExcessHet=0.119;FS=3.182;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.688;SOR=0.533	GT:AD:DP:GQ:PL	0/1:89,65:154:99:1412,0,2102	17	0	2	0
chr14	35870416	35870416	G	C	exonic	BRMS1L	.	nonsynonymous SNV	BRMS1L:NM_032352:exon10:c.G911C:p.S304T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.00221248419424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.313e-05	6.57e-05	1.238e-05	1.388e-05	1.451e-05	8.4e-06	6.77e-06	8.59e-06	6.95e-06	0	0	3.886e-05	0	1.89e-05	0	1.451e-05	1.675e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.07594	T	0.398	0.15109	T	0.004	0.12183	B	0.004	0.10090	B	0.000000	0.84330	D	0.111584	0.999994	0.58761	D	1.715	0.44382	L	.	.	.	-0.49	0.15578	N	0.145	0.14622	-0.9386	0.42837	T	0.178	0.52318	T	9	0.1481382	0.28058	T	0.002212	0.04178	T	0.166	0.42578	0.175	0.08135	0.307966526162	0.30417	0.5061039972548269	0.50532	0.566790619123	0.52959	0.7530849576	0.74902	T	0.012464	0.10952	T	0.020254	0.54415	T	-0.208683	0.53821	T	0.805031061172485	0.46699	D	0.820118	0.47860	T	0.18230602	0.39443	0.20176247	0.44172	0.18230602	0.39442	0.20176247	0.44171	-3.018	0.10376	T	.	.	0.077	0.06433	B	.	.	3.178248	0.43127	21.7	0.83697020226144336	0.14869	0.95612	0.65420	D	AEFGI	0.748629	0.69032	D	0.0557396435389112	0.44408	2.71533	0.285975852205076	0.54718	3.636153	0.999998355966963	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.86	5.86	0.93936	7.140000	0.76912	11.907000	0.99503	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.202	0.98265	732	0.54084	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	138.23	34	chr14	35870416	.	G	C	138.23	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-2.816;DP=1899;ExcessHet=0.119;FS=216.881;InbreedingCoeff=-0.1362;MLEAC=3;MLEAF=0.107;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=0.202;SOR=10.525	GT:AD:DP:GQ:PL	0/1:92,33:125:94:94,0,1792	12	0	2	5
chr14	39432136	39432136	C	A	exonic	FBXO33	.	nonsynonymous SNV	FBXO33:NM_203301:exon1:c.G27T:p.Q9H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0014	0.00299521	0.0074	0.0404	0	0	0	0	0	0	0.0002652	41	154602	rs201896398	0.0002	0.0001	0.0002	0.0002	0.0068	0.0001	0.0001	0.0060	0.0056	0.0068	0.0001	0	0	0	0.0004	3.241e-06	0.0003	4.759e-05	0.0021	0.0021	0.0021	0.0021	0.0074	0.0019	0.0018	0.0067	0.0064	0.0074	0	0.0003	0	0	0	0	1.472e-05	0.0009	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.000957	0.40932	D	0.000000	0.967372	0.25851	N	0	0.06538	N	1.31	0.35405	T	-0.22	0.10480	N	0.176	0.18920	-1.0701	0.09391	T	0.036	0.15465	T	9	0.0033266544	0.00057	T	.	.	.	0.080	0.23350	0.169	0.07419	0.043077524339	0.03247	0.30635438495764566	0.30548	1.37926964747	0.84740	0.832785308361	0.86990	D	0.007934	0.07302	T	-0.47082	0.00840	T	-0.443949	0.28366	T	0.232988119130867	0.22093	T	0.506949	0.16072	T	0.20364408	0.42449	0.15316026	0.36003	0.20364408	0.42449	0.15316026	0.36002	-3.726	0.19703	T	.	.	0.206	0.43172	B	.	.	2.814743	0.37065	20.4	0.98561708796124103	0.42986	0.56965	0.30253	D	ALL	.	.	.	-0.6425347401657	0.17678	0.9117109	-0.524701947018052	0.21483	1.162392	0.999999999826477	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	4.08	-0.37	0.11906	0.343000	0.19686	0.309000	0.17063	0.547000	0.25779	1.000000	0.71638	0.988000	0.31051	0.958000	0.51230	0.3343:0.4627:0.0:0.203	3.572	0.07472	547	0.72440	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1414.33	33	chr14	39432136	.	C	A	1414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.981;DP=790;ExcessHet=0;FS=1.51;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.846;SOR=0.561	GT:AD:DP:GQ:PL	0/1:49,66:115:99:1428,0,1108	18	0	1	0
chr14	45247130	45247132	AGG	-	exonic	MIS18BP1	.	nonframeshift deletion	MIS18BP1:NM_018353:exon2:c.155_157del:p.S52del	.	432	1080	9	1	0	11	0.00506679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0082	0.00279553	0.0052	0.0005	0.0137	0.0001	0.0091	0.0046	0.0066	0.0059	0.0006147	16	26028	rs573451535	0.0048	0.0048	0.0049	0.0047	0.0107	0.0047	0.0046	0.0099	0.0096	0.0006	0.0107	0.0063	5.043e-05	0.0094	0.0028	0.0045	0.0042	0.0059	0.0038	0.0038	0.0036	0.0040	0.0052	0.0036	0.0035	0.0043	0.0041	0.0010	0	0.0041	0.0061	0.0002	0.0096	0.0034	0.0047	0.0014	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	2060.29	33	chr14	45247129	.	AAGG	A	2060.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.041;DP=735;ExcessHet=0;FS=1.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.6;ReadPosRankSum=-0.716;SOR=0.706	GT:AD:DP:GQ:PL	0/1:47,53:100:99:2074,0,1814	18	0	1	0
chr14	52268578	52268578	C	T	exonic	PTGDR	.	nonsynonymous SNV	PTGDR:NM_000953:exon1:c.C764T:p.P255L,PTGDR:NM_001281469:exon1:c.C764T:p.P255L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00904908787485	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1293562434	1.37e-06	1.368e-06	1.363e-06	1.377e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.161e-05	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	0.705	0.04379	T	0.799	0.04539	T	0.0	0.02946	B	0.001	0.04355	B	0.995303	0.07929	N	1.002520	1	0.08975	N	0.49	0.13296	N	-0.48	0.70249	T	0.67	0.03297	N	0.161	0.19055	-0.9407	0.42505	T	0.226	0.59007	T	10	0.074781775	0.11474	T	0.009049	0.23821	T	0.050	0.13987	0.464	0.53404	0.399159426805	0.39527	0.2067759245851882	0.20593	0.329700171431	0.35074	0.429813146591	0.29183	T	0.055026	0.29890	T	-0.221858	0.17740	T	-0.55646	0.16710	T	0.0904271975159645	0.11268	T	0.531147	0.17633	T	0.019589897	0.00493	0.036885113	0.03227	0.019589897	0.00492	0.036885113	0.03226	-3.349	0.14378	T	.	.	0.075	0.05711	B	.;.	.;.	0.468472	0.08381	5.134	0.93947952851966354	0.24007	0.07795	0.13792	N	AEFDBHCI	0.055756	0.10250	N	-1.02751101330484	0.08036	0.3753895	-1.04137938217368	0.08887	0.4392352	0.999989855744301	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	4.38	1.54	0.22290	-0.095000	0.11043	-0.223000	0.10745	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.6644:0.0:0.3356	8.269	0.30993	913	0.21160	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	919.33	35	chr14	52268578	.	C	T	919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=705;ExcessHet=0;FS=0.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.336;SOR=0.586	GT:AD:DP:GQ:PL	0/1:46,34:80:99:933,0,1313	18	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2170.86	43	chr14	58213644	.	T	C	2170.86	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.448;DP=1186;ExcessHet=25.4433;FS=260.724;InbreedingCoeff=-0.7123;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.37;SOR=11.67	GT:AD:DP:GQ:PL	0/1:45,28:73:99:309,0,897	3	0	16	0
chr14	58645723	58645723	C	A	exonic	DACT1	.	nonsynonymous SNV	DACT1:NM_001079520:exon4:c.C989A:p.T330K,DACT1:NM_016651:exon4:c.C1100A:p.T367K	.	9	1501	12	0	0	12	0.00398142	.	.	.	754090	Townes-Brocks_syndrome_2|not_specified|not_provided	MONDO:MONDO:0054582,MedGen:C4479534,OMIM:617466|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.074	0.0140035735463	.	0.000399361	0.0002	0	0.0003	0	0	0.0001	0	0.0012	0.000207	32	154602	rs564164674	0.0001	0.0001	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0008	0	0.0009	0	0	0	0.0017	4.227e-05	0.0001	0.0010	0.0001	0.0001	0.0001	0.0001	0.0008	8.656e-05	7.25e-05	0.0004	0.0003	0	0	0.0007	0	0	0	0	7.348e-05	0	0.0008	0.034	0.47745	D	0.251	0.47581	T	0.759	0.43487	P	0.438	0.45631	B	0.012976	0.28994	N	0.378995	0.569963	0.31186	N	2.35	0.67516	M	0.91	0.44856	T	-3.12	0.79915	D	0.565	0.58968	-0.9428	0.42169	T	0.105	0.38415	T	10	0.02031061	0.00466	T	0.014004	0.33816	T	0.074	0.21613	.	.	0.357630699053	0.35373	0.39941391303586227	0.39856	0.515104095024	0.49428	0.481018781662	0.36196	T	0.038856	0.50540	T	-0.392158	0.02605	T	-0.381636	0.35531	T	0.0908666578497794	0.11320	T	0.845515	0.56350	T	0.16896327	0.37385	0.19213082	0.42711	0.16896327	0.37385	0.19213082	0.42710	-3.462	0.15904	T	.	.	0.429	0.63694	A	.;.;.;.;.	.;.;.;.;.	2.668518	0.34787	19.72	0.9832694821084631	0.40300	0.43778	0.27173	N	AEFDGBI	0.253129	0.37268	N	-0.269107675553677	0.30347	1.691326	-0.299019192149437	0.28130	1.566067	0.999999671060516	0.74766	0.700653	0.57754	0	0.546412	0.12157	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	5.46	3.55	0.39770	1.017000	0.29591	4.045000	0.41458	0.599000	0.40250	0.002000	0.15269	0.999000	0.35428	0.991000	0.66497	0.0:0.6314:0.2876:0.081	8.575	0.32753	474	0.77851	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2404.33	42	chr14	58645723	.	C	A	2404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.17;DP=789;ExcessHet=0;FS=2.07;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.36;ReadPosRankSum=-2.91;SOR=0.721	GT:AD:DP:GQ:PL	0/1:67,80:147:99:2418,0,1587	18	0	1	0
chr14	63599585	63599585	T	G	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.A358C:p.S120R,WDR89:NM_080666:exon3:c.A358C:p.S120R,WDR89:NM_001008726:exon4:c.A358C:p.S120R,WDR89:NM_001382423:exon4:c.A358C:p.S120R,WDR89:NM_001382424:exon4:c.A358C:p.S120R,WDR89:NM_001382425:exon4:c.A358C:p.S120R,WDR89:NM_001382426:exon4:c.A358C:p.S120R,WDR89:NM_001382427:exon4:c.A358C:p.S120R,WDR89:NM_001382428:exon5:c.A358C:p.S120R,WDR89:NM_001382429:exon5:c.A358C:p.S120R	.	436	1070	16	0	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.079113870758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889833191	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0079	0.0002	0.0003	0.0009	0.0002	0.0001	0.0003	0.0002	0.0004	0	0.0001	0.0003	0	9.696e-05	0	0.0001	0	0.0009	0.003	0.68238	D	0.04	0.50809	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999942	0.51968	D	2.965	0.85198	M	-0.44	0.69777	T	-3.76	0.71276	D	0.929	0.96758	0.036	0.82979	D	0.492	0.80698	T	10	0.849964	0.84171	D	0.079114	0.73159	D	0.636	0.86078	0.731	0.86460	0.915439794578	0.91458	0.8468957044921087	0.84650	0.578397025268	0.53743	0.607123553753	0.53909	T	0.217029	0.57935	T	0.339169	0.85780	D	0.249416	0.85593	D	0.985822659318314	0.76706	D	0.857114	0.55085	D	0.7603168	0.81472	0.71975005	0.83454	0.7603168	0.81473	0.71975005	0.83455	-12.65	0.87870	D	.	.	0.973	0.91683	P	.;.;.;.	.;.;.;.	4.634787	0.73723	26.0	0.99807925437057288	0.89174	0.97372	0.74333	D	AEFGBI	0.609297	0.59855	D	0.730345460544241	0.81622	7.565515	0.701598012198421	0.82500	7.782416	0.99988785508351	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	4.180000	0.58093	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.132	0.81260	854	0.34840	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	449.76	33	chr14	63599585	.	T	G	449.76	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.539;DP=1456;ExcessHet=0.7564;FS=10.068;InbreedingCoeff=-0.1171;MLEAC=4;MLEAF=0.105;MQ=59.14;MQRankSum=-10.98;QD=0.6;ReadPosRankSum=-2.477;SOR=2.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,12:176:10:0|1:63599584_C_T:10,0,6740:63599584	15	0	4	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4412	2933.03	148	chr14	64158707	.	T	C	2933.03	.	AC=15;AF=0.441;AN=34;BaseQRankSum=-3.339;DP=2339;ExcessHet=20.8569;FS=186.487;InbreedingCoeff=-0.7246;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=0.532;SOR=11.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:104,32:136:53:.:.:53,0,2168:.	2	0	15	2
chr14	67587182	67587182	C	T	exonic	PLEKHH1	.	stopgain	PLEKHH1:NM_020715:exon29:c.C4042T:p.R1348X	.	430	1052	37	3	0	43	0.0200279	.	.	.	702955	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.144	.	0.0086	0.00359425	0.0076	0.0013	0.0048	0.0001	0.0024	0.0115	0.0100	0.0033	0.0074255	1148	154602	rs111462449	0.0081	0.0081	0.0083	0.0080	0.0248	0.0080	0.0079	0.0215	0.0202	0.0012	0.0053	0.0403	2.519e-05	0.0019	0.0248	0.0085	0.0090	0.0034	0.0061	0.0061	0.0063	0.0058	0.0084	0.0058	0.0056	0.0079	0.0076	0.0013	0	0.0057	0.0423	0.0006	0.0020	0.0136	0.0084	0.0109	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	0.062110	0.22121	N	0.477844	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.029	0.00666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210287	0.74857	D	0.536677	0.95345	D	0.0940689564391577	0.11692	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.533679	0.96614	36	0.99597489037825016	0.73983	0.24847	0.22519	N	AEFGBI	0.615946	0.60269	D	0.519486289193855	0.68242	5.190	0.270601044546819	0.53831	3.550164	0.660484157857556	0.22265	0.706548	0.73137	0	0.550933	0.16991	0	0.724815	0.87919	0	0.528226	0.09195	0	.	.	5.07	3.11	0.34883	0.294000	0.18803	0.424000	0.18252	0.599000	0.40250	0.025000	0.20085	0.001000	0.17328	0.586000	0.31041	0.2081:0.7072:0.0:0.0846	8.376	0.31604	274	0.89249	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019134	0.015152	0.019022	0.023392	0.050000	0.060345	0.024390	0.007576	0.05263	5190.83	34	chr14	67587182	.	C	T	5190.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.37;DP=2729;ExcessHet=0.119;FS=1.738;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.842;SOR=0.862	GT:AD:DP:GQ:PL	0/1:123,105:228:99:2448,0,3140	17	0	2	0
chr14	69572725	69572725	C	T	exonic	CCDC177	.	nonsynonymous SNV	CCDC177:NM_001271507:exon2:c.G898A:p.G300S	.	489	1019	14	0	0	14	0.00682261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0081869	0.1667	0.25	.	.	.	0	.	.	0.0009444	146	154602	rs112597196	0.0057	0.0044	0.0057	0.0058	0.0191	0.0056	0.0056	0.0176	0.0170	0.0191	0.0057	0.0038	3.772e-05	0.0128	0.0165	0.0054	0.0066	0.0031	0.0098	0.0099	0.0099	0.0097	0.0175	0.0094	0.0092	0.0165	0.0160	0.0175	0.0011	0.0082	0.0055	0	0.0127	0.0170	0.0066	0.0104	0.0025	.	.	.	0.379	0.16037	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.095	0.27400	L	1.85	0.24472	T	.	.	.	0.112	0.09914	.	.	.	.	.	.	.	0.0028022528	0.00044	T	.	.	.	.	.	.	.	.	.	0.08548746969442873	0.08482	.	.	0.782288968563	0.79273	T	0.015139	0.12759	T	-0.585505	0.00178	T	-0.598877	0.12906	T	.	.	.	0.582642	0.21138	T	0.090948656	0.21298	0.15418081	0.36196	0.090948656	0.21298	0.15418081	0.36196	-4.213	0.26939	T	.	.	0.219	0.44948	B	.	.	3.430428	0.47670	22.5	0.97456485833148221	0.34058	0.91475	0.53609	D	AEFDGBCI	0.349290	0.44313	N	.	.	.	.	.	.	0.999552068343067	0.40362	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.554799	0.18163	0	.	.	3.75	0.84	0.18047	5.149000	0.64707	2.542000	0.33220	0.515000	0.23462	1.000000	0.71638	0.990000	0.31317	0.374000	0.26200	0.0:0.7333:0.0:0.2667	8.369	0.31567	409	0.82198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3222.83	36	chr14	69572725	.	C	T	3222.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.81;DP=877;ExcessHet=0.119;FS=3.13;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.132;SOR=0.499	GT:AD:DP:GQ:PL	0/1:49,63:112:99:1822,0,1179	17	0	2	0
chr14	74503338	74503338	A	G	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon33:c.T4769C:p.V1590A	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	702982	not_provided|Weill-Marchesani_syndrome|not_specified|Glaucoma_3,_primary_congenital,_D	MedGen:C3661900|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449|MedGen:CN169374|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.478	.	0.0072	0.00519169	0.0078	0.0037	0.0029	0.0016	0.0231	0.0101	0.0059	0.0025	0.0073996	1144	154602	rs139932140	0.0077	0.0078	0.0077	0.0078	0.0079	0.0076	0.0076	0.0078	0.0077	0.0027	0.0042	0.0143	0.0017	0.0197	0.0061	0.0079	0.0083	0.0024	0.0076	0.0076	0.0074	0.0077	0.0089	0.0072	0.0070	0.0083	0.0081	0.0035	0	0.0046	0.0181	0.0019	0.0204	0	0.0089	0.0085	0.0044	0.306	0.59928	T	0.004	0.74150	D	0.998	0.73220	D	0.984	0.76113	D	0.035284	0.24662	N	0.196582	0.751255	0.33931	D	2.75	0.80375	M	-2.78	0.90962	D	-3.08	0.63438	D	0.26	0.40063	0.493	0.90452	D	0.712	0.90097	D	10	0.007753551	0.00176	T	.	.	.	0.478	0.76946	.	.	0.854277263187	0.85287	0.6727523117228988	0.67213	0.185492764599	0.20855	0.51385974884	0.40762	T	0.625113	0.88306	D	-0.256432	0.13320	T	-0.133161	0.60704	T	0.0393886729870514	0.03581	T	0.49835	0.15781	T	0.19108286	0.40721	0.22328903	0.47203	0.15769148	0.35517	0.22328903	0.47202	-7.72	0.59147	D	.	.	0.300	0.64803	B	.;.	.;.	4.231892	0.64097	24.7	0.99790704479422643	0.87661	0.98868	0.87925	D	AEFGBI	0.893035	0.83056	D	0.524530978042677	0.68544	5.231956	0.496666300645407	0.67768	5.128522	0.999999667672732	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.527494	0.11647	0	0.711	0.71501	0	.	.	5.38	4.25	0.49658	7.306000	0.78218	9.331000	0.80131	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.9265:0.0:0.0735:0.0	10.895	0.46224	279	0.89001	TB domain;TB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.040404	0.009511	0.002924	0.000000	0.000000	0.003067	0.000000	0.02632	3483.33	33	chr14	74503338	.	A	G	3483.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.76;DP=938;ExcessHet=0;FS=0.436;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.25;SOR=0.736	GT:AD:DP:GQ:PL	0/1:155,127:282:99:3497,0,4018	18	0	1	0
chr14	74809473	74809473	G	C	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon7:c.G4615C:p.V1539L	.	431	1049	41	1	0	43	0.0200841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	0.0042	0.00219649	0.0062	0.0016	0.0046	0	0.0046	0.0079	0.0114	0.0065	0.0041655	644	154602	rs139645102	0.0054	0.0054	0.0055	0.0054	0.0247	0.0053	0.0053	0.0214	0.0202	0.0014	0.0039	0.0040	2.578e-05	0.0044	0.0247	0.0058	0.0056	0.0055	0.0039	0.0039	0.0041	0.0037	0.0059	0.0036	0.0035	0.0054	0.0052	0.0010	0	0.0030	0.0066	0.0002	0.0034	0.0170	0.0059	0.0066	0.0056	0.369	0.11586	T	0.685	0.13634	T	.	.	.	.	.	.	0.428077	0.12784	N	0.712848	0.999986	0.21372	N	.	.	.	.	.	.	0.12	0.05917	N	0.202	0.22357	-0.9815	0.34655	T	0.018	0.07706	T	9	0.0050153434	0.00108	T	.	.	.	0.099	0.28413	0.246	0.18139	0.043077524339	0.03247	0.3544232962056145	0.35356	0.114460003441	0.12903	0.421121537685	0.27990	T	0.002439	0.01836	T	-0.629407	0.00096	T	-0.670337	0.07586	T	0.0014493992208708	0.00015	T	0.756024	0.37907	T	0.08233242	0.18962	0.07522694	0.16541	0.08233242	0.18961	0.07522694	0.16541	-2.789	0.08082	T	.	.	0.099	0.22282	B	.;.	.;.	1.066790	0.14488	11.06	0.90336484123853977	0.19601	0.67940	0.33616	D	AEFGBI	0.145081	0.26821	N	-0.930382740093858	0.10136	0.4829762	-0.779091164806651	0.15007	0.787145	0.418820137012474	0.20274	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	-3.3	0.04692	-0.159000	0.10043	0.795000	0.21604	0.618000	0.50648	0.781000	0.29485	0.996000	0.32793	0.997000	0.79791	0.5994:0.2743:0.1263:0.0	6.547	0.21609	707	0.57054	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022155	0.020202	0.017663	0.038012	0.000000	0.086207	0.009146	0.007576	0.07895	4187.79	34	chr14	74809473	.	G	C	4187.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.69;DP=967;ExcessHet=0.3672;FS=0.393;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.035;SOR=0.729	GT:AD:DP:GQ:PL	0/1:73,55:128:99:1569,0,2103	16	0	3	0
chr14	76177923	76177923	C	T	exonic	GPATCH2L	.	stopgain	GPATCH2L:NM_017972:exon6:c.C1084T:p.R362X,GPATCH2L:NM_001322026:exon7:c.C1084T:p.R362X	.	469	1019	30	4	0	38	0.0183044	.	.	.	2810561	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0035	0.00359425	0.0045	0.0017	0.0049	0	0.0003	0.0053	0.0166	0.0061	0.0043855	678	154602	rs117516637	0.0042	0.0043	0.0040	0.0044	0.0327	0.0041	0.0041	0.0288	0.0273	0.0013	0.0062	0.0080	0	0.0005	0.0327	0.0040	0.0062	0.0060	0.0038	0.0038	0.0040	0.0037	0.0077	0.0036	0.0035	0.0066	0.0062	0.0011	0	0.0077	0.0095	0.0002	0	0.0306	0.0049	0.0061	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.408	0.44857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.303757	0.08310	T	-0.206491	0.54031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.767942	0.54107	23.4	0.9969627417015734	0.80316	0.92029	0.54788	D	AEFGBI	0.113998	0.22470	N	-0.146814314135127	0.35369	2.030754	-0.0591147514923771	0.37098	2.167655	0.999986360647847	0.51787	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	5.2	4.32	0.50899	2.830000	0.47837	4.035000	0.41373	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.9213:0.0:0.0787	12.347	0.54450	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.022659	0.030303	0.023098	0.023392	0.050000	0.008621	0.027439	0.015152	0.05263	1918.83	34	chr14	76177923	.	C	T	1918.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.246;DP=785;ExcessHet=0.119;FS=3.862;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.71;SOR=0.439	GT:AD:DP:GQ:PL	0/1:46,36:82:99:862,0,1178	17	0	2	0
chr14	77027437	77027472	TGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGT	-	exonic	IRF2BPL	.	nonframeshift deletion	IRF2BPL:NM_024496:exon1:c.321_356del:p.Q116_Q127del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.667e-07	1.385e-06	0	1.554e-06	9.722e-07	0	0	.	.	0	0	0	0	0	0	9.722e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	617.29	50	chr14	77027436	.	CTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGT	C	617.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=798;ExcessHet=0;FS=3.461;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-1.78;SOR=1.609	GT:AD:DP:GQ:PL	0/1:28,17:45:99:631,0,1123	18	0	1	0
chr14	77027445	77027445	C	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	11972.7	48	chr14	77027445	.	C	*	11972.7	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.061;DP=779;ExcessHet=2.8292;FS=0.667;InbreedingCoeff=-0.2723;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=27.59;ReadPosRankSum=-0.128;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,17:31:99:0|1:77027445_C_*:1257,587,1123:77027445	16	0	1	2
chr14	77027448	77027451	CTGT	0	exonic	IRF2BPL	.	.	.	.	513	390	392	223	4	842	0.517923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	12134.0	43	chr14	77027448	.	CTGT	*	12134.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.541;DP=750;ExcessHet=1.7862;FS=0.675;InbreedingCoeff=-0.0523;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=27.83;ReadPosRankSum=-0.128;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,17:31:99:0|1:77027445_C_*:1257,587,1123:77027445	18	0	1	0
chr14	77027472	77027472	T	0	exonic	IRF2BPL	.	.	.	.	430	1009	45	5	33	88	0.0265316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	578.96	31	chr14	77027472	.	T	*	578.96	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.094;DP=448;ExcessHet=0.3672;FS=2.396;InbreedingCoeff=-0.0863;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=0.026;SOR=1.118	GT:AD:DP:GQ:PL	0/1:15,13:28:99:477,0,926	18	0	1	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N,NRXN3:NM_001366425:exon4:c.G749A:p.S250N,NRXN3:NM_001366426:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	459.9	207	chr14	78297852	.	G	A	459.9	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.965;DP=2827;ExcessHet=5.3738;FS=251.731;InbreedingCoeff=-0.327;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.61;SOR=13.567	GT:AD:DP:GQ:PL	0/1:93,44:154:77:77,0,1430	10	0	9	0
chr14	81142975	81142975	T	C	exonic	TSHR	.	nonsynonymous SNV	TSHR:NM_000369:exon10:c.T917C:p.M306T	Hyperthyroidism, familial gestational;Hyperthyroidism, nonautoimmune, Autosomal dominant, Isolated cases;Hypothyroidism, congenital, nongoitrous, 1, Autosomal recessive;Thyroid adenoma, hyperfunctioning, somatic (3);Thyroid carcinoma with thyrotoxicosis (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0100611740753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.17821	T	0.41	0.14544	T	.	.	.	.	.	.	0.027278	0.25783	N	0.474778	0.999777	0.20412	N	.	.	.	-0.82	0.74053	T	-0.42	0.14193	N	0.065	0.03726	-1.0041	0.28725	T	0.144	0.46678	T	10	0.12166849	0.23068	T	0.010061	0.26146	T	0.124	0.34239	0.398	0.42590	0.922305557511	0.92152	0.5340314348098646	0.53328	0.175392714489	0.19744	0.34564614296	0.17279	T	.	.	.	-0.131476	0.31259	T	-0.426633	0.30318	T	0.159987360239029	0.17871	T	0.358764	0.08201	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.13409	B	.;.	.;.	1.557713	0.19955	14.52	0.79299342367129699	0.12679	0.66196	0.32995	D	AEFDIJ	0.250369	0.37043	N	-0.469883090608924	0.23071	1.236397	-0.245108583968842	0.29939	1.681554	0.888896469303304	0.25800	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	1.978000	0.40221	3.364000	0.37882	0.665000	0.62972	0.369000	0.25916	0.710000	0.26286	0.808000	0.38083	0.1255:0.0:0.1465:0.728	8.105	0.30042	798	0.45050	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2174.81	37	chr14	81142975	.	T	C	2174.81	.	AC=2;AF=0.053;AN=38;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.46;SOR=1.508	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2202,201,0	18	1	0	0
chr14	88840883	88840883	A	G	exonic	TTC8	.	nonsynonymous SNV	TTC8:NM_001366535:exon3:c.A254G:p.K85R,TTC8:NM_001366536:exon3:c.A254G:p.K85R,TTC8:NM_001288781:exon4:c.A254G:p.K85R,TTC8:NM_144596:exon4:c.A284G:p.K95R,TTC8:NM_198309:exon4:c.A254G:p.K85R,TTC8:NM_198310:exon4:c.A254G:p.K85R	Bardet-Biedl syndrome 8, Autosomal recessive	0	1473	45	4	0	53	0.0176726	.	.	.	193761	not_provided|Bardet-Biedl_syndrome_8|not_specified|Retinitis_pigmentosa|Bardet-Biedl_syndrome	MedGen:C3661900|MONDO:MONDO:0014436,MedGen:C1859566,OMIM:615985,Orphanet:110|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.138	.	0.0032	0.0071885	0.0059	0.0006	0.0030	0	0.0005	0.0040	0.0122	0.0240	0.005595	865	154602	rs150880478	0.0047	0.0047	0.0040	0.0053	0.0232	0.0046	0.0045	0.0223	0.0220	0.0005	0.0035	0.0008	0	0.0006	0.0177	0.0038	0.0050	0.0232	0.0035	0.0035	0.0034	0.0036	0.0263	0.0033	0.0032	0.0226	0.0212	0.0007	0	0.0042	0.0014	0	0.0006	0.0238	0.0042	0.0057	0.0263	0.574	0.08660	T	1.0	0.08808	T	0.003	0.12996	B	0.003	0.16862	B	0.000000	0.84330	D	0.048705	0.998721	0.81001	D	0.63	0.15941	N	-1.07	0.76948	T	-0.35	0.17210	N	0.13	0.24135	-0.9675	0.37713	T	0.106	0.38734	T	10	0.007837504	0.00178	T	.	.	.	0.349	0.67049	.	.	0.815756240397	0.81402	0.32855384335387705	0.32768	0.469398045918	0.46249	0.551525473595	0.46072	T	0.04129	0.25811	T	-0.327425	0.06309	T	-0.225514	0.52205	T	0.0430550078249923	0.04247	T	0.871513	0.70013	D	.	.	.	.	.	.	.	.	-3.003	0.10213	T	.	.	0.066	0.04002	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.496810	0.32224	18.98	0.98253644681263119	0.39594	0.87280	0.46771	D	AEFDGBI	0.523395	0.54702	D	0.121874717811164	0.47484	2.973543	0.232126589072069	0.51640	3.344667	0.999999556930636	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.09	5.09	0.68647	4.991000	0.63616	9.335000	0.80166	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	14.859	0.69997	410	0.82135	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.025253	0.012228	0.017544	0.050000	0.000000	0.006098	0.022727	0.07895	16866.8	33	chr14	88840883	.	A	G	16866.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.69;DP=1409;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.35;ReadPosRankSum=-0.412;SOR=0.714	GT:AD:DP:GQ:PL	1/1:0,397:397:99:12245,1191,0	17	1	1	0
chr14	91273331	91273331	G	C	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon30:c.C5381G:p.P1794R	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	739374	CCDC88C-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.096	.	8.4e-05	0.00159744	0.0042	0	0.0053	0	0	0.0013	0	0.0121	0.0008797	136	154602	rs200077683	0.0005	0.0005	0.0004	0.0007	0.0059	0.0005	0.0005	0.0055	0.0053	3.141e-05	0.0012	0.0006	2.678e-05	0	0.0011	0.0001	0.0009	0.0059	0.0007	0.0007	0.0006	0.0009	0.0054	0.0006	0.0006	0.0038	0.0032	4.808e-05	0	0.0039	0.0009	0	0	0.0034	0.0001	0.0033	0.0054	0.527	0.07093	T	0.491	0.11515	T	0.528	0.37661	P	0.277	0.40197	B	0.043659	0.23718	U	0.300464	1	0.08975	N	2.44	0.70756	M	2.52	0.14160	T	-1.88	0.43906	N	0.209	0.23253	-0.9611	0.38974	T	0.149	0.47610	T	10	0.004674226	0.00098	T	.	.	.	0.096	0.27654	.	.	0.501874446873	0.49824	0.20276624002257568	0.20193	0.30571589573	0.32879	0.423363089561	0.28300	T	0.029139	0.20950	T	-0.594125	0.00158	T	-0.622331	0.11003	T	0.0244717706613991	0.01205	T	0.735226	0.35154	T	0.04033894	0.05739	0.07398957	0.16137	0.042450864	0.06440	0.04998176	0.07749	-5.201	0.38952	T	.	.	0.143	0.31381	B	.	.	1.814704	0.23060	15.87	0.90902478556864141	0.20151	0.75200	0.36809	D	AEFDBCI	0.267172	0.38393	N	-0.0153756271211116	0.41160	2.457021	-0.119785351367804	0.34593	1.991618	0.997731176467018	0.35965	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.14	4.24	0.49486	2.164000	0.42013	5.678000	0.49283	0.618000	0.50648	0.024000	0.20007	0.996000	0.32793	0.450000	0.27895	0.1905:0.0:0.8095:0.0	8.604	0.32924	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001515	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.05263	3128.81	36	chr14	91273331	.	G	C	3128.81	.	AC=2;AF=0.053;AN=38;DP=845;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.29;SOR=1.473	GT:AD:DP:GQ:PL	1/1:0,100:100:99:3156,300,0	18	1	0	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	10250.8	91	chr14	94497802	.	C	T	10250.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.403;DP=2518;ExcessHet=31.086;FS=244.116;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.62;ReadPosRankSum=0.296;SOR=13.49	GT:AD:DP:GQ:PL	0/1:85,55:140:99:715,0,1595	1	0	17	1
chr14	95221756	95221756	A	C	exonic	CLMN	.	nonsynonymous SNV	CLMN:NM_024734:exon4:c.T259G:p.S87A	.	430	1091	1	0	0	1	0.000458085	.	.	.	2377338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.406	0.0368872147134	.	.	3.298e-05	0	0	0	0	3e-05	0	0.0001	2.59e-05	4	154602	rs756412157	1.163e-05	1.163e-05	6.806e-06	1.65e-05	0.0002	7.08e-06	5.79e-06	2.995e-05	2.038e-05	5.974e-05	0	0	0	0	0.0002	5.396e-06	3.312e-05	6.957e-05	6.567e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.008	0.58626	D	0.105	0.38016	T	1.0	0.90584	D	0.992	0.80445	D	0.003557	0.34793	N	0.000000	0.997908	0.44305	D	1.1	0.28011	L	0.19	0.60236	T	-1.88	0.43906	N	0.679	0.68603	-0.5382	0.67232	T	0.234	0.60112	T	10	0.5656942	0.65037	D	0.036887	0.57273	D	0.406	0.71869	0.61	0.74300	0.812916816524	0.81116	0.2946995040472106	0.29382	0.494870314576	0.48037	0.566336810589	0.48161	T	0.477583	0.82495	T	-0.0962263	0.37050	T	-0.173345	0.57136	T	0.539857089519501	0.34098	D	0.824718	0.48720	T	0.1276602	0.29866	0.12917846	0.31066	0.1276602	0.29866	0.12917846	0.31065	-9.35	0.69921	D	.	.	0.342	0.56038	A	.;.;.	.;.;.	4.670838	0.74647	26.2	0.99262581176382059	0.57255	0.98624	0.84831	D	AEFBIJ	0.886748	0.81841	D	0.574387460544338	0.71580	5.672383	0.610377699474355	0.75691	6.355807	0.999999999978164	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.675528	0.61593	0	0.668105	0.65232	0	.	.	5.19	5.19	0.71428	8.187000	0.89659	11.052000	0.85313	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.365000	0.25999	1.0:0.0:0.0:0.0	15.378	0.74348	957	0.09725	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07895	2979.77	33	chr14	95221756	.	A	C	2979.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.677;DP=766;ExcessHet=0;FS=0.646;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.95;ReadPosRankSum=-1.522;SOR=0.595	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2304,246,0	17	1	1	0
chr14	95455663	95455663	G	A	exonic	SYNE3	.	nonsynonymous SNV	SYNE3:NM_001363692:exon6:c.C851T:p.A284V,SYNE3:NM_001384281:exon6:c.C851T:p.A284V,SYNE3:NM_001384282:exon6:c.C851T:p.A284V,SYNE3:NM_001384284:exon6:c.C851T:p.A284V,SYNE3:NM_152592:exon6:c.C851T:p.A284V,SYNE3:NM_001384283:exon7:c.C875T:p.A292V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00313406598917	7.7e-05	.	6.601e-05	0.0002	0.0002	0	0	1.502e-05	0	0.0002	5.17e-05	8	154602	rs143391386	2.531e-05	2.531e-05	1.634e-05	3.438e-05	0.0003	1.868e-05	1.631e-05	0.0002	0.0002	5.974e-05	4.472e-05	0	0	3.747e-05	0	5.396e-06	0	0.0003	1.314e-05	1.313e-05	0	2.689e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.002	0.06944	B	0.498534	0.11976	N	0.676502	1	0.08975	N	-0.905	0.01334	N	3.48	0.35405	T	-0.26	0.11185	N	0.061	0.03283	-0.9968	0.30810	T	0.016	0.06569	T	10	0.019228846	0.00427	T	0.003134	0.06815	T	0.006	0.00375	.	.	0.167679373172	0.16340	0.03700334798635665	0.03647	0.110443629434	0.12463	0.247046798468	0.03463	T	0.005521	0.08746	T	-0.546171	0.00308	T	-0.762634	0.03018	T	0.00568478554487228	0.00062	T	0.106589	0.00797	T	0.012150994	0.00028	0.02418371	0.00434	0.012150994	0.00028	0.02418371	0.00434	-6.43	0.49782	T	.	.	0.070	0.08368	B	.;.;.;.	.;.;.;.	-1.033805	0.00724	0.022	0.16228201298136261	0.00427	0.00562	0.02559	N	AEFDBI	0.028078	0.02407	N	-1.89174190125743	0.00357	0.01533619	-1.90250315823305	0.00484	0.02144597	0.999999844896309	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	4.99	-7.67	0.01133	-1.018000	0.03737	-4.857000	0.01954	-0.546000	0.04920	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.352:0.0843:0.3967:0.1669	3.850	0.08460	953	0.10115	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	5801.81	39	chr14	95455663	.	G	A	5801.81	.	AC=2;AF=0.053;AN=38;DP=870;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.19;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,186:186:99:5829,558,0	18	1	0	0
chr14	104943471	104943471	T	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A11680T:p.T3894S,AHNAK2:NM_138420:exon7:c.A11980T:p.T3994S	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00539137	0.0021	0.0006	0.0003	0.0103	0	0.0001	0.0078	0.0086	0.0011526	30	26028	rs200747295	0.0010	0.0011	0.0008	0.0012	0.0090	0.0010	0.0010	0.0085	0.0083	0.0003	0.0002	3.828e-05	0.0051	5.627e-05	0.0014	0.0002	0.0045	0.0090	0.0013	0.0014	0.0009	0.0017	0.0174	0.0011	0.0011	0.0143	0.0132	0.0006	0	0.0001	0	0.0131	9.52e-05	0	0.0002	0.0044	0.0174	1.0	0.00964	T	1.0	0.01155	T	0.033	0.20350	B	0.051	0.25434	B	.	.	.	.	1	0.08975	N	-1.195	0.00846	N	5.79	0.00674	T	1.33	0.00912	N	0.035	0.01004	-0.9453	0.41764	T	0.001	0.00222	T	9	0.00428766	0.00086	T	.	.	.	0.030	0.07022	0.113	0.02240	0.0138822411134	0.00435	0.010286315505471466	0.00989	.	.	0.222926497459	0.01486	T	0.016224	0.13452	T	-0.710354	0.00032	T	-0.78212	0.02390	T	0.00218717536415347	0.00023	T	0.185981	0.01934	T	0.016578494	0.00207	0.022815857	0.00300	0.016578494	0.00207	0.022815857	0.00300	2.293	0.00039	T	.	.	0.079	0.07130	B	.	.	-1.824141	0.00149	0.002	0.16891457384060568	0.00471	0.00470	0.02253	N	AEFBI	.	.	.	-2.45546062015118	0.00020	0.0008736942	-2.38746393680055	0.00042	0.001844221	0.00411138777418775	0.10422	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.19	-4.77	0.02985	-3.735000	0.00426	-20.000000	0.00162	-0.677000	0.04263	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.233:0.0979:0.0754:0.5937	4.038	0.09220	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	0.001119	0.005882	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	24410.8	288	chr14	104943471	.	T	A	24410.8	.	AC=2;AF=0.053;AN=38;DP=5301;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=56.84;QD=31.32;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,547:547:99:1|1:104943463_T_C:24438,1646,0:104943463	18	1	0	0
chr14	104944175	104944175	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10976T:p.A3659V,AHNAK2:NM_138420:exon7:c.C11276T:p.A3759V	.	433	1058	31	0	0	31	0.0144388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.024738690492	.	.	4.977e-05	0.0001	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs762470858	3.971e-05	7.868e-05	3.542e-05	4.404e-05	0.0002	3.115e-05	2.849e-05	3.767e-05	2.755e-05	2.992e-05	0	0	0	0	0.0002	4.049e-05	6.632e-05	8.12e-05	4.058e-05	0.0014	5.287e-05	2.77e-05	0.0001	1.757e-05	1.157e-05	4.944e-05	3.19e-05	0.0001	0	0	0	0	0	0	1.489e-05	0	0	0.028	0.46129	D	0.063	0.45110	T	0.012	0.16265	B	0.01	0.14941	B	0.299966	0.03948	U	1.840710	1	0.08975	N	0.205	0.09354	N	5.83	0.00652	T	-2.56	0.55339	D	0.069	0.04188	-0.9045	0.47504	T	0.003	0.00929	T	10	0.06377372	0.08357	T	0.024739	0.47726	T	0.037	0.09474	.	.	0.0138822411134	0.00435	0.004746779182261101	0.00447	.	.	0.167820572853	0.00025	T	0.024804	0.18673	T	-0.539558	0.00337	T	-0.738514	0.03953	T	0.0586531829207644	0.06954	T	0.236476	0.03296	T	0.04050458	0.05794	0.058473505	0.10811	0.04050458	0.05794	0.058473505	0.10811	-1.868	0.02720	T	.	.	0.092	0.13362	B	.	.	-0.717969	0.01279	0.067	0.97329653179763331	0.33418	0.02806	0.07531	N	AEFBI	.	.	.	-1.08578588282399	0.06905	0.319191	-1.17118712972313	0.06395	0.3077083	1.61262701251638E-4	0.05721	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.13	-1.91	0.07225	-0.804000	0.04641	-20.000000	0.00162	-1.927000	0.00502	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5597:0.1748:0.2655:0.0	4.779	0.12563	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1181.33	282	chr14	104944175	.	G	A	1181.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.397;DP=5899;ExcessHet=0;FS=27.909;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.72;MQRankSum=-20.44;QD=2.44;ReadPosRankSum=-5.138;SOR=3.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:426,59:485:99:0|1:104944098_G_A:1195,0,17710:104944098	18	0	1	0
chr14	104944178	104944178	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10973G:p.T3658R,AHNAK2:NM_138420:exon7:c.C11273G:p.T3758R	.	433	1072	17	0	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00946792399026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183612492	2.053e-06	3.215e-05	1.362e-06	2.752e-06	2.32e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.996e-07	0	2.32e-05	6.766e-06	0.0012	1.322e-05	0	2.543e-05	0	0	.	.	2.543e-05	0	0	0	0	0	0	0	0	0	0.556	0.06461	T	0.654	0.06643	T	0.017	0.17573	B	0.008	0.13708	B	0.045649	0.01949	U	4.017220	1	0.08975	N	1.095	0.27400	L	4.71	0.01655	T	-0.41	0.14000	N	0.087	0.06454	-0.8847	0.49382	T	0.008	0.02679	T	10	0.055714905	0.06134	T	0.009468	0.24809	T	0.032	0.07718	0.229	0.15556	0.0138822411134	0.00435	0.004878085995868745	0.00459	.	.	0.215819358826	0.01082	T	0.020774	0.16293	T	-0.314783	0.07334	T	-0.689941	0.06392	T	0.0369846471797902	0.03153	T	0.308469	0.05950	T	0.026394365	0.01691	0.034579005	0.02549	0.026394365	0.01691	0.034579005	0.02549	-6.347	0.49094	T	.	.	0.087	0.11172	B	.	.	-0.339081	0.02450	0.281	0.62540945077157595	0.06989	0.01830	0.05681	N	AEFBI	.	.	.	-1.28187589143296	0.03893	0.1747631	-1.36185924592355	0.03668	0.1715764	1.3216691354537E-4	0.05486	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.4	-1.33	0.08693	-1.086000	0.03497	-20.000000	0.00162	-1.018000	0.01743	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0856:0.3845:0.4154:0.1145	5.487	0.16046	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	986.33	282	chr14	104944178	.	G	C	986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.11;DP=5889;ExcessHet=0;FS=23.012;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.78;MQRankSum=-20.11;QD=2.08;ReadPosRankSum=-4.751;SOR=3.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:421,54:475:99:0|1:104944098_G_A:1000,0,17515:104944098	18	0	1	0
chr14	104944187	104944187	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10964T:p.A3655V,AHNAK2:NM_138420:exon7:c.C11264T:p.A3755V	.	432	1078	12	0	0	12	0.00553506	.	.	.	2371904	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.00404983418982	.	0.000199681	0.0003	0.0002	0.0009	0	0	0.0004	0	6.056e-05	0.0002846	44	154602	rs201313753	0.0006	0.0006	0.0006	0.0006	0.0008	0.0005	0.0005	0.0007	0.0006	8.969e-05	0.0008	3.827e-05	0	0	0	0.0007	0.0004	6.957e-05	0.0004	0.0012	0.0004	0.0004	0.0014	0.0003	0.0003	0.0009	0.0008	0.0003	0	0.0014	0	0.0002	0	0	0.0004	0	0	0.181	0.21884	T	0.199	0.27679	T	0.012	0.16265	B	0.005	0.11217	B	0.002864	0.35804	U	0.000000	1	0.08975	N	-0.345	0.03330	N	5.63	0.00800	T	0.37	0.03639	N	0.06	0.03175	-0.9647	0.38270	T	0.003	0.00800	T	10	0.008428931	0.00191	T	0.00405	0.09650	T	0.057	0.16321	.	.	0.0138822411134	0.00435	0.0037587487726221257	0.00351	.	.	0.184906214476	0.00148	T	0.015985	0.13301	T	-0.680879	0.00047	T	-0.801253	0.01872	T	0.0283894649983659	0.01745	T	0.533547	0.17787	T	0.014713073	0.00105	0.038435727	0.03713	0.014713073	0.00105	0.038435727	0.03713	-4.635	0.32608	T	.	.	0.108	0.20508	B	.	.	-0.017385	0.04162	1.002	0.26437583856384472	0.01266	0.01340	0.04609	N	AEFBI	.	.	.	-2.26900927051647	0.00054	0.002296346	-2.36564161484216	0.00047	0.002074123	0.925817267205096	0.26829	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.42	-6.83	0.01532	-0.839000	0.04475	0.000000	0.13247	-1.245000	0.01309	0.000000	0.06391	0.134000	0.23028	0.000000	0.00833	0.3732:0.0958:0.531:0.0	14.090	0.64511	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	0.001067	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.02632	368.33	282	chr14	104944187	.	G	A	368.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.3;DP=5870;ExcessHet=0;FS=29.279;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.9;MQRankSum=-19.78;QD=0.81;ReadPosRankSum=-5.324;SOR=3.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:417,39:456:99:0|1:104944098_G_A:382,0,17392:104944098	18	0	1	0
chr14	104946840	104946840	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8311A:p.E2771K,AHNAK2:NM_138420:exon7:c.G8611A:p.E2871K	.	425	1031	66	0	0	66	0.031015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00516765144614	.	.	0.0001	0.0011	0	0.0001	0	1.501e-05	0	0.0001	3.84e-05	1	26028	rs765833389	5.301e-05	0.0026	3.01e-05	7.62e-05	0.0005	4.305e-05	3.978e-05	0.0003	0.0003	0.0003	2.248e-05	0	0.0005	0	0.0005	1.804e-05	0.0003	7.087e-05	0.0003	0.0066	0.0003	0.0003	0.0012	0.0002	0.0002	0.0009	0.0008	0.0012	0	0	0	0	0	0	1.491e-05	0	0.0002	0.35	0.12305	T	0.304	0.20100	T	0.003	0.11197	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.395	0.35261	L	5.72	0.00726	T	-1.82	0.42763	N	0.042	0.01498	-0.9083	0.47061	T	0.003	0.00897	T	9	0.02272144	0.00575	T	0.005168	0.13156	T	0.053	0.14996	.	.	0.0138822411134	0.00435	0.01070317848971027	0.01031	.	.	0.231759011745	0.02101	T	0.021887	0.16970	T	-0.38292	0.02986	T	-0.787815	0.02225	T	0.0484263979648418	0.05219	T	0.553645	0.19140	T	0.027281942	0.01897	0.058093388	0.10674	0.027281942	0.01897	0.058093388	0.10674	-8.163	0.62175	D	.	.	0.151	0.33365	B	.	.	0.952869	0.13291	9.792	0.63652803078570641	0.07281	0.04330	0.09889	N	AEFBI	.	.	.	-1.56462695524314	0.01451	0.06330527	-1.61025239373678	0.01594	0.07229178	1.11558074033666E-4	0.05269	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	1.0	0.18999	-0.219000	0.09233	-2.557000	0.03611	-2.359000	0.00306	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7292:0.0:0.2708	7.453	0.26421	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	0.002041	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.003876	0.05263	1585.83	182	chr14	104946840	.	C	T	1585.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.189;DP=4432;ExcessHet=0.119;FS=13.576;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=56.75;MQRankSum=-9.129;QD=2.1;ReadPosRankSum=-3.925;SOR=1.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:358,58:416:99:0|1:104946840_C_T:1294,0,14717:104946840	17	0	2	0
chr14	104946844	104946844	T	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A8307C:p.Q2769H,AHNAK2:NM_138420:exon7:c.A8607C:p.Q2869H	.	426	1042	54	0	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00456934809247	.	0.00199681	0.0013	0.0014	8.639e-05	0.0001	0.0036	0.0017	0	0.0001	0.0001035	16	154602	rs549959692	0.0010	0.0031	0.0010	0.0009	0.0010	0.0009	0.0009	0.0009	0.0009	0.0003	6.734e-05	0.0007	0.0003	0.0049	0.0002	0.0010	0.0009	0.0001	0.0009	0.0062	0.0008	0.0010	0.0009	0.0008	0.0007	0.0008	0.0007	0.0007	0	0.0001	0.0012	0	0.0031	0	0.0009	0.0005	0	0.199	0.20456	T	0.044	0.49663	D	0.222	0.30359	B	0.126	0.32692	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	5.72	0.00726	T	-1.02	0.26843	N	0.054	0.02559	-0.9209	0.45431	T	0.001	0.00467	T	9	0.009157479	0.00207	T	0.004569	0.11283	T	0.008	0.00669	0.25	0.18757	0.0138822411134	0.00435	0.006695173993302265	0.00637	.	.	0.236160099506	0.02455	T	0.021859	0.16951	T	-0.663042	0.00060	T	-0.765724	0.02911	T	0.0259420974383474	0.01398	T	0.327667	0.06803	T	0.02251858	0.00921	0.035413582	0.02789	0.02251858	0.00921	0.035413582	0.02789	-4.563	0.31703	T	.	.	0.164	0.36234	B	.	.	-0.466991	0.01975	0.172	0.80392660186174825	0.13181	0.00383	0.01935	N	AEFBI	.	.	.	-1.48234254240428	0.01974	0.08670879	-1.54650334495513	0.02000	0.09137707	2.74653825623093E-4	0.06300	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	-2.7	0.05651	-1.316000	0.02818	-20.000000	0.00162	-4.377000	0.00031	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5322:0.2016:0.2662	7.447	0.26386	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	0.001020	0.000000	0.001359	0.000000	0.000000	0.000000	0.003185	0.000000	0.05263	1417.83	182	chr14	104946844	.	T	G	1417.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.736;DP=4405;ExcessHet=0.119;FS=11.656;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.6;MQRankSum=-9.179;QD=1.85;ReadPosRankSum=-3.824;SOR=1.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:364,56:420:99:0|1:104946840_C_T:1212,0,15050:104946840	17	0	2	0
chr14	104946846	104946846	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C8305G:p.Q2769E,AHNAK2:NM_138420:exon7:c.C8605G:p.Q2869E	.	423	1048	51	0	0	51	0.0237541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00601287222755	.	.	0.0013	0.0014	8.639e-05	0.0001	0.0036	0.0017	0	0.0001	2.59e-05	4	154602	rs765081436	0.0010	0.0027	0.0010	0.0009	0.0010	0.0009	0.0009	0.0009	0.0009	0.0002	6.728e-05	0.0007	0.0002	0.0049	0.0002	0.0010	0.0007	9.387e-05	0.0009	0.0051	0.0008	0.0009	0.0009	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0001	0.0012	0	0.0030	0	0.0009	0.0005	0	0.83	0.02884	T	0.617	0.07518	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.115	0.04602	N	5.84	0.00647	T	0.89	0.01641	N	0.02	0.00308	-0.9529	0.40468	T	0.001	0.00255	T	9	0.009065419	0.00205	T	0.006013	0.15698	T	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0016092417742788088	0.00148	.	.	0.228061407804	0.01827	T	0.016132	0.13395	T	-0.648084	0.00074	T	-0.744237	0.03715	T	0.00364170349492424	0.00039	T	0.339966	0.07337	T	0.02530059	0.01453	0.03273809	0.02056	0.02530059	0.01453	0.03273809	0.02056	-2.714	0.07421	T	.	.	0.060	0.01011	B	.	.	-0.105849	0.03606	0.709	0.30481252660818753	0.01669	0.00077	0.00530	N	AEFBI	.	.	.	-1.80290082682248	0.00538	0.02316779	-1.74440261055854	0.00955	0.04273961	1.08048917805001E-4	0.05123	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	-0.215	0.12510	0.146000	0.16000	-10.489000	0.00696	-0.266000	0.06809	0.237000	0.24716	0.000000	0.08366	0.000000	0.00833	0.0:0.5285:0.3634:0.1081	6.202	0.19793	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	0.000510	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003846	0.05263	1199.83	182	chr14	104946846	.	G	C	1199.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.192;DP=4401;ExcessHet=0.119;FS=15.603;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.76;MQRankSum=-8.204;QD=1.58;ReadPosRankSum=-4.039;SOR=1.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:371,52:423:99:0|1:104946840_C_T:1068,0,15383:104946840	17	0	2	0
chr14	104946849	104946849	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8302A:p.A2768T,AHNAK2:NM_138420:exon7:c.G8602A:p.A2868T	.	422	1059	41	0	0	41	0.0189903	.	.	.	3409374	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.040	0.0032799704562	.	.	0.0002	0.0010	8.639e-05	0.0005	0	9.003e-05	0.0011	0.0003	0.000207	32	154602	rs781609751	0.0001	0.0012	8.323e-05	0.0001	0.0047	8.739e-05	8.224e-05	0.0033	0.0029	9.104e-05	4.479e-05	7.66e-05	0.0002	0	0.0047	6.395e-05	0.0003	0.0002	0.0002	0.0037	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0.0001	0.0003	0.0004	0	0.0070	8.894e-05	0.0005	0.0002	0.048	0.40068	D	0.231	0.25061	T	0.028	0.19712	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	2.395	0.69210	M	5.55	0.00874	T	-0.82	0.22508	N	0.065	0.03726	-0.8556	0.51577	T	0.004	0.01400	T	9	0.026404798	0.00808	T	0.00328	0.07268	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.002754179350592718	0.00256	.	.	0.210492774844	0.00832	T	0.022204	0.17162	T	-0.324054	0.06571	T	-0.703257	0.05649	T	0.0342946946823724	0.02687	T	0.329367	0.06881	T	0.02186054	0.00812	0.049946822	0.07739	0.02186054	0.00811	0.049946822	0.07738	-7.621	0.58457	D	.	.	0.101	0.17445	B	.	.	0.282115	0.06588	3.080	0.90699426532362137	0.19950	0.01201	0.04282	N	AEFBI	.	.	.	-1.17912363358261	0.05316	0.2420568	-1.34729888941916	0.03838	0.1798289	1.51879746510354E-4	0.05650	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	-2.0	0.07024	-1.956000	0.01613	-14.507000	0.00400	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3038:0.3553:0.1498:0.191	0.865	0.01125	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006122	0.000000	0.001359	0.026627	0.000000	0.017241	0.000000	0.000000	0.05263	888.83	182	chr14	104946849	.	C	T	888.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.82;DP=4414;ExcessHet=0.119;FS=15.93;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.83;MQRankSum=-8.605;QD=1.15;ReadPosRankSum=-4.102;SOR=1.822	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:377,47:424:99:0|1:104946840_C_T:839,0,15689:104946840	17	0	2	0
chr14	104949074	104949074	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C6077G:p.P2026R,AHNAK2:NM_138420:exon7:c.C6377G:p.P2126R	.	838	683	1	0	0	1	0.000731529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	0.00399361	0.0347	0.0464	0.0173	0.0541	0.0137	0.0229	0.0459	0.0748	0.0008068	21	26028	rs545833279	0.0007	0.0010	0.0007	0.0008	0.0032	0.0007	0.0007	0.0028	0.0026	0.0016	0.0009	0.0011	0.0029	0.0004	0.0006	0.0003	0.0014	0.0032	0.0005	0.0008	0.0006	0.0004	0.0011	0.0004	0.0003	0.0008	0.0006	0.0011	0.0017	0.0005	0	0.0008	0	0	0.0002	0.0010	0.0011	0.004	0.65419	D	0.017	0.60337	D	0.485	0.36856	P	0.261	0.39516	B	.	.	.	.	1	0.08975	N	1.47	0.36993	L	3.6	0.04494	T	-5.76	0.87835	D	0.094	0.07398	-1.0816	0.07041	T	0.036	0.15509	T	9	0.0035232008	0.00063	T	.	.	.	0.098	0.28162	.	.	.	.	0.009788836885484457	0.00940	.	.	0.221396118402	0.01392	T	0.156222	0.49830	T	-0.235321	0.15950	T	-0.575799	0.14921	T	0.0605766607648034	0.07258	T	0.371363	0.08780	T	0.08241573	0.18984	0.16221161	0.37691	0.08241573	0.18984	0.16221161	0.37690	-7.718	0.59133	D	.	.	0.130	0.27880	B	.	.	1.022998	0.14027	10.59	0.99597670973215935	0.73983	0.75923	0.37200	D	AEFBI	.	.	.	-0.146980122350168	0.35362	2.030258	-0.285692830019549	0.28568	1.593936	6.08133509168249E-4	0.07437	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.16	3.24	0.36257	1.017000	0.29591	0.261000	0.16544	-2.030000	0.00430	0.718000	0.28801	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.6085:0.3915	9.245	0.36682	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5922.69	.	chr14	104949074	.	G	C	5922.69	.	AC=2;AF=0.1;AN=20;DP=2040;ExcessHet=0;FS=0;InbreedingCoeff=0.7744;MLEAC=3;MLEAF=0.15;MQ=49.18;QD=31.32;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,132:132:99:1|1:104948996_T_C:5940,397,0:104948996	9	1	0	9
chr14	104949094	104949094	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G6057C:p.M2019I,AHNAK2:NM_138420:exon7:c.G6357C:p.M2119I	.	826	695	1	0	0	1	0.000718907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	.	0.0368	0.0484	0.0183	0.0610	0.0142	0.0240	0.0466	0.0793	3.84e-05	1	26028	rs199873247	0.0009	0.0010	0.0008	0.0009	0.0042	0.0008	0.0008	0.0036	0.0034	0.0016	0.0010	0.0010	0.0042	0.0005	0.0006	0.0004	0.0015	0.0034	0.0006	0.0008	0.0007	0.0005	0.0016	0.0005	0.0004	0.0008	0.0006	0.0011	0.0017	0.0005	0	0.0016	0	0	0.0003	0.0010	0.0016	0.208	0.19782	T	0.558	0.09175	T	0.003	0.11197	B	0.01	0.14941	B	.	.	.	.	1	0.21028	N	0.55	0.14455	N	5.89	0.00629	T	0.03	0.06612	N	0.027	0.00571	-0.9084	0.47049	T	0.002	0.00738	T	9	0.0030561388	0.00050	T	.	.	.	0.020	0.03691	0.255	0.19533	.	.	0.005157390116853562	0.00486	.	.	0.178342416883	0.00079	T	0.015128	0.12745	T	-0.376966	0.03256	T	-0.779262	0.02476	T	0.00239159522359801	0.00025	T	0.480552	0.14510	T	0.13128155	0.30606	0.12269506	0.29593	0.13128155	0.30605	0.12269506	0.29592	-5.577	0.42582	T	.	.	0.253	0.48736	B	.	.	0.092124	0.04957	1.523	0.58574301978269405	0.06024	0.02166	0.06356	N	AEFBI	.	.	.	-0.990019499376126	0.08816	0.4148285	-1.00662784791001	0.09639	0.4807123	2.38740922418111E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.31	2.38	0.28415	-2.219000	0.01301	-20.000000	0.00162	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.205:0.4504:0.2466:0.0979	3.163	0.06135	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.098684	0.081250	0.122642	0.074468	0.000000	0.074468	0.076577	0.136792	0.09091	7945.16	.	chr14	104949094	.	C	G	7945.16	.	AC=2;AF=0.091;AN=22;DP=1963;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=3;MLEAF=0.136;MQ=50.52;QD=30.63;SOR=0.811	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,178:178:99:1|1:104948996_T_C:7964,536,0:104948996	10	1	0	8
chr14	104949096	104949096	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A6055G:p.M2019V,AHNAK2:NM_138420:exon7:c.A6355G:p.M2119V	.	829	690	1	2	0	5	0.00361011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	.	0.0393	0.0626	0.0205	0.0640	0.0145	0.0246	0.0502	0.0813	0.0002689	7	26028	rs199970974	0.0016	0.0076	0.0016	0.0016	0.0113	0.0015	0.0015	0.0103	0.0099	0.0113	0.0024	0.0015	0.0050	0.0006	0.0021	0.0006	0.0032	0.0047	0.0055	0.0093	0.0057	0.0052	0.0170	0.0050	0.0049	0.0155	0.0149	0.0170	0.0035	0.0036	0	0.0034	0	0	0.0008	0.0080	0.0035	1.0	0.00964	T	0.444	0.13177	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.005	0.01165	N	5.91	0.00623	T	0.22	0.04694	N	0.017	0.00226	-0.9653	0.38151	T	0.001	0.00348	T	9	0.0026950836	0.00042	T	.	.	.	0.008	0.00669	.	.	.	.	0.005194985040938393	0.00490	.	.	0.186300992966	0.00166	T	0.015031	0.12687	T	-0.454455	0.01063	T	-0.89057	0.00571	T	0.000298728606434334	0.00002	T	0.363264	0.08416	T	0.034015387	0.03734	0.057699602	0.10537	0.034015387	0.03734	0.057699602	0.10536	-1.675	0.02164	T	.	.	0.056	0.00428	B	.	.	-2.264818	0.00055	0.001	0.31825851185022491	0.01813	0.00319	0.01677	N	AEFBI	.	.	.	-2.08229068781637	0.00140	0.00599041	-2.05838207092252	0.00229	0.01010856	3.56203564765778E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.31	-2.8	0.05477	-3.781000	0.00414	-20.000000	0.00162	-3.188000	0.00112	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1064:0.1654:0.2303:0.4979	3.036	0.05753	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	0.109354	0.113924	0.130094	0.075269	0.000000	0.076087	0.076577	0.154206	0.09091	7945.16	.	chr14	104949096	.	T	C	7945.16	.	AC=2;AF=0.091;AN=22;DP=1969;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=3;MLEAF=0.136;MQ=50.86;QD=29.51;SOR=0.811	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,178:178:99:1|1:104948996_T_C:7964,536,0:104948996	10	1	0	8
chr14	104949281	104949281	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C5870T:p.P1957L,AHNAK2:NM_138420:exon7:c.C6170T:p.P2057L	.	842	668	11	1	0	13	0.00963677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	0.0670927	0.0002	0.0004	0.0001	0.0001	0	0.0002	0	8.326e-05	0.0033247	514	154602	rs561933027	7.826e-05	0.0005	7.26e-05	8.398e-05	0.0011	6.392e-05	5.83e-05	0.0004	0.0003	0.0005	0.0001	0	0.0001	0	0.0011	1.443e-05	0.0001	0.0005	7.749e-05	0.0011	5.681e-05	9.914e-05	0.0001	3.825e-05	2.801e-05	5.417e-05	3.537e-05	0.0001	0	0	0	0	0	0	5.148e-05	0.0007	0	0.007	0.59928	D	0.006	0.70582	D	0.029	0.19866	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	1.535	0.38868	L	4.88	0.01439	T	-6.02	0.89684	D	0.08	0.05542	-0.9927	0.31906	T	0.009	0.03227	T	9	0.0025387108	0.00038	T	.	.	.	0.081	0.23632	.	.	0.0611884634855	0.05136	0.03771500750535149	0.03717	.	.	0.19974796474	0.00449	T	0.050646	0.28655	T	-0.668646	0.00056	T	-0.740025	0.03889	T	0.0220577902218616	0.00915	T	0.49705	0.15447	T	0.05052777	0.09141	0.0893155	0.20880	0.05052777	0.09141	0.0893155	0.20879	-6.587	0.50953	T	.	.	0.092	0.13737	B	.	.	1.220310	0.16140	12.34	0.43822318891268208	0.03326	0.12080	0.17047	N	AEFBI	.	.	.	-1.62279424807614	0.01155	0.05018956	-1.68153671317487	0.01221	0.05500561	9.65762816530308E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	4.25	0.194	0.14424	0.826000	0.27061	-2.857000	0.03290	-1.837000	0.00584	0.010000	0.18352	0.000000	0.08366	0.000000	0.00833	0.2283:0.0:0.6512:0.1204	7.173	0.24907	982	0.03397	.	.	.	.	.	.	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	0.003026	0.000000	0.000000	0.011905	0.000000	0.000000	0.010309	0.000000	0.04545	338.5	.	chr14	104949281	.	G	A	338.5	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-4.592;DP=1802;ExcessHet=0;FS=17.302;InbreedingCoeff=-0.0476;MLEAC=2;MLEAF=0.091;MQ=43.83;MQRankSum=-0.314;QD=6.91;ReadPosRankSum=4.36;SOR=0.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,11:49:99:0|1:104949256_A_G:348,0,1563:104949256	10	0	1	8
chr14	104949302	104949302	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5849A:p.G1950D,AHNAK2:NM_138420:exon7:c.G6149A:p.G2050D	.	.	.	.	.	.	.	.	.	.	.	3255090	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.00204880542899	.	.	2.331e-05	0	0	0	0	2.43e-05	0	8.322e-05	3.84e-05	1	26028	rs781128485	7.506e-05	0.0004	3.524e-05	0.0001	0.0007	6.083e-05	5.59e-05	0.0005	0.0005	0.0002	0	0	7.628e-05	0	0	1.442e-05	0.0002	0.0007	0.0001	0.0004	0.0001	7.772e-05	0.0003	5.769e-05	4.466e-05	0.0001	9.43e-05	0.0002	0	0	0	0	0	0	2.51e-05	0	0.0003	0.087	0.32453	T	0.098	0.39040	T	0.998	0.73220	D	0.897	0.63631	P	.	.	.	.	1	0.08975	N	2.295	0.65404	M	4.13	0.02865	T	-1.2	0.30555	N	0.139	0.13769	-1.0751	0.08328	T	0.018	0.07423	T	9	0.14253703	0.27071	T	0.002049	0.03748	T	0.079	0.23065	0.338	0.32816	0.0297737177859	0.01360	0.010330589381271002	0.00994	.	.	0.217171877623	0.01153	T	0.022347	0.17246	T	-0.299869	0.08672	T	-0.668518	0.07704	T	0.244044899940491	0.22604	T	0.274073	0.04660	T	0.04568146	0.07518	0.05429044	0.09308	0.04568146	0.07518	0.05429044	0.09308	-8.36	0.63498	D	.	.	0.173	0.38025	B	.	.	0.536375	0.09050	5.833	0.71242507928752474	0.09563	0.02673	0.07298	N	AEFBI	.	.	.	-0.831010570298139	0.12523	0.610909	-1.15739752751733	0.06635	0.3200831	0.0231572066422917	0.13486	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.55	-6.01	0.02015	-1.814000	0.01817	-10.848000	0.00659	-1.994000	0.00453	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2469:0.2332:0.4415:0.0783	5.067	0.13923	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	367.37	8	chr14	104949302	.	C	T	367.37	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.04;DP=1849;ExcessHet=0;FS=18.623;InbreedingCoeff=-0.0298;MLEAC=1;MLEAF=0.026;MQ=37.79;MQRankSum=-1.412;QD=15.97;ReadPosRankSum=-3.792;SOR=4.977	GT:AD:DP:GQ:PL	0/1:12,11:23:99:381,0,471	18	0	1	0
chr14	104949306	104949306	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A5845G:p.T1949A,AHNAK2:NM_138420:exon7:c.A6145G:p.T2049A	.	890	610	19	3	0	25	0.0200803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	0.165136	0.0004	0.0006	0	0.0001	0	0.0003	0	0.0010	0.0069598	1076	154602	rs201406401	0.0004	0.0031	0.0003	0.0005	0.0018	0.0004	0.0004	0.0015	0.0014	0.0014	0.0003	0.0006	0.0005	2.672e-05	0.0003	0.0002	0.0006	0.0018	0.0005	0.0027	0.0005	0.0005	0.0010	0.0004	0.0003	0.0007	0.0006	0.0010	0	0.0002	0	0	0	0	0.0003	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.64	0.02118	N	5.92	0.00621	T	0.87	0.01688	N	0.022	0.00372	-0.9740	0.36344	T	0.001	0.00287	T	9	0.0027029812	0.00042	T	.	.	.	0.016	0.02506	.	.	0.0138822411134	0.00435	0.00708365487551219	0.00675	.	.	0.196304097772	0.00357	T	0.015964	0.13288	T	-0.459638	0.00988	T	-0.898015	0.00517	T	0.000721562574598981	0.00007	T	0.190681	0.02037	T	0.02292779	0.00991	0.037992395	0.03572	0.02292779	0.00991	0.037992395	0.03571	0.421	0.00230	T	.	.	0.056	0.00470	B	.	.	-1.055756	0.00696	0.020	0.36831802887168441	0.02392	0.00115	0.00727	N	AEFBI	.	.	.	-2.08686289980388	0.00137	0.005858008	-2.06374372785095	0.00223	0.009847368	5.71204682153802E-4	0.07363	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.87	-3.46	0.04465	-0.796000	0.04680	-15.353000	0.00361	-0.939000	0.02101	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3694:0.2156:0.415	6.357	0.20613	982	0.03397	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.027982	0.093220	0.009967	0.024096	0.000000	0.038462	0.000000	0.025253	0.1	927.69	14	chr14	104949306	.	T	C	927.69	.	AC=2;AF=0.1;AN=20;DP=2030;ExcessHet=0;FS=0;InbreedingCoeff=0.5833;MLEAC=3;MLEAF=0.15;MQ=37.47;QD=31.34;SOR=1.828	GT:AD:DP:GQ:PL	1/1:0,21:21:63:945,63,0	9	1	0	9
chr14	104949324	104949324	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5827A:p.A1943T,AHNAK2:NM_138420:exon7:c.G6127A:p.A2043T	.	455	1049	14	4	0	22	0.0103774	.	.	.	2807471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.021	.	.	0.0163738	0.0002	0.0009	0	0.0002	0	0.0001	0	0.0002	0.0005498	85	154602	rs200010377	5.587e-05	0.0005	5.654e-05	5.519e-05	0.0006	4.516e-05	4.146e-05	0.0004	0.0004	0.0006	0.0002	0	5.066e-05	0	0.0002	1.882e-05	0.0002	0.0001	0.0002	0.0008	0.0002	0.0003	0.0005	0.0002	0.0001	0.0004	0.0003	0.0005	0	9.124e-05	0	0.0002	0	0	4.935e-05	0.0007	0	0.34	0.12714	T	0.41	0.14544	T	0.999	0.77913	D	0.958	0.70027	D	.	.	.	.	1	0.08975	N	1.04	0.26193	L	5.55	0.00874	T	-1.07	0.27876	N	0.079	0.05414	-0.9307	0.44036	T	0.008	0.02720	T	9	0.0046064258	0.00096	T	.	.	.	0.021	0.04004	.	.	0.0401082797425	0.02173	0.00525549496637017	0.00496	.	.	0.213303595781	0.00959	T	0.020106	0.15893	T	-0.567867	0.00228	T	-0.755918	0.03260	T	0.0209839604794979	0.00799	T	0.377062	0.09013	T	0.015034415	0.00119	0.036937363	0.03242	0.015034415	0.00119	0.036937363	0.03241	-6.702	0.51825	T	.	.	0.077	0.06479	B	.	.	0.220959	0.06035	2.475	0.9947742150937795	0.66687	0.01841	0.05704	N	AEFBI	.	.	.	-0.425225448838182	0.24588	1.328673	-0.675545245549276	0.17572	0.9350048	1.65893175846788E-4	0.05721	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.87	0.935	0.18608	-1.254000	0.02984	-8.576000	0.00947	-0.944000	0.02069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1662:0.6467:0.0:0.1871	5.083	0.14002	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.029447	0.113636	0.019284	0.018182	0.000000	0.017241	0.008000	0.016667	0.05263	512.81	48	chr14	104949324	.	C	T	512.81	.	AC=2;AF=0.053;AN=38;DP=2389;ExcessHet=0;FS=0;InbreedingCoeff=0.9999;MLEAC=2;MLEAF=0.053;MQ=37.8;QD=28.69;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,12:12:36:1|1:104949256_A_G:540,36,0:104949256	18	1	0	0
chr14	104949354	104949354	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A5797G:p.T1933A,AHNAK2:NM_138420:exon7:c.A6097G:p.T2033A	.	449	1071	2	0	0	2	0.000932836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00530944409628	.	.	0.0003	0.0019	0.0003	0.0003	0	6.254e-05	0	0.0004	0.000304	47	154602	rs199921891	5.22e-05	0.0003	5.404e-05	5.035e-05	0.0008	4.265e-05	3.89e-05	0.0005	0.0004	0.0008	6.982e-05	0	5.047e-05	1.941e-05	0	1.371e-05	0.0002	0.0002	9.433e-05	0.0005	0.0001	4.859e-05	0.0002	5.419e-05	4.261e-05	8.75e-05	6.174e-05	0.0002	0	0	0	0	0	0	7.261e-05	0.0006	0	0.779	0.03298	T	1.0	0.01155	T	0.012	0.16265	B	0.034	0.22546	B	.	.	.	.	1	0.20482	N	0.66	0.16226	N	4.11	0.02916	T	-0.62	0.18248	N	0.154	0.15888	-0.8953	0.48455	T	0.005	0.01725	T	9	0.013001382	0.00277	T	0.005309	0.13587	T	0.026	0.05648	.	.	0.0138822411134	0.00435	0.00816948717190958	0.00781	.	.	0.236769318581	0.02507	T	0.016676	0.13737	T	-0.290814	0.09555	T	-0.655511	0.08573	T	0.00312814630424437	0.00033	T	0.418758	0.11073	T	0.015926229	0.00166	0.02038706	0.00133	0.015926229	0.00165	0.02038706	0.00133	-3.04	0.10618	T	.	.	0.096	0.15160	B	.	.	0.365243	0.07376	4.000	0.55594911356506382	0.05375	0.01237	0.04368	N	AEFBI	.	.	.	-1.08201176734525	0.06975	0.322639	-1.06478520896596	0.08402	0.4129391	1.42626948549438E-4	0.05573	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.87	1.35	0.21078	-0.308000	0.08196	-20.000000	0.00162	0.607000	0.46521	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.2131:0.2467:0.5403	3.059	0.05821	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	0.023563	0.073333	0.016438	0.016949	0.000000	0.034483	0.000000	0.016129	0.05263	261.81	94	chr14	104949354	.	T	C	261.81	.	AC=2;AF=0.053;AN=38;DP=2801;ExcessHet=0;FS=0;InbreedingCoeff=0.9997;MLEAC=2;MLEAF=0.053;MQ=37.69;QD=23.8;SOR=0.859	GT:AD:DP:GQ:PL	1/1:0,11:11:33:289,33,0	18	1	0	0
chr14	104950538	104950538	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C4613T:p.A1538V,AHNAK2:NM_138420:exon7:c.C4913T:p.A1638V	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0032	0.0179712	0.0066	0.0113	0.0028	0.0447	0.0008	0.0019	0.0068	0.0077	0.0068004	177	26028	rs185154010	0.0038	0.0039	0.0038	0.0038	0.0311	0.0037	0.0037	0.0296	0.0290	0.0096	0.0026	0.0009	0.0311	0.0008	0.0026	0.0022	0.0096	0.0087	0.0065	0.0068	0.0062	0.0067	0.0490	0.0061	0.0060	0.0439	0.0420	0.0098	0	0.0029	0.0003	0.0490	0.0009	0.0035	0.0023	0.0100	0.0200	0.174	0.22486	T	0.273	0.22154	T	0.486	0.36871	P	0.23	0.38212	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	6.54	0.00525	T	-1.38	0.34198	N	0.05	0.02179	-0.9705	0.37094	T	0.000	0.00114	T	9	0.003598839	0.00065	T	.	.	.	0.028	0.06331	.	.	0.0297737177859	0.01360	0.0014970766985751634	0.00138	.	.	0.216862082481	0.01137	T	0.020729	0.16269	T	-0.699695	0.00037	T	-0.73686	0.04024	T	0.00540246813598207	0.00059	T	0.343166	0.07474	T	0.027432075	0.01935	0.038549893	0.03748	0.027432075	0.01935	0.038549893	0.03747	-5.533	0.42176	T	.	.	0.074	0.05274	B	.	.	-0.790880	0.01125	0.052	0.9503705482766367	0.26039	0.01896	0.05817	N	AEFBI	.	.	.	-1.33397493956742	0.03294	0.146895	-1.45999011727532	0.02681	0.1237557	2.62773855013347E-4	0.06244	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	2.59	-2.85	0.05392	0.636000	0.24333	-11.791000	0.00575	-0.566000	0.04804	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3492:0.0:0.4924:0.1584	4.426	0.10931	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	0.004881	0.005435	0.002732	0.000000	0.000000	0.008621	0.006410	0.000000	0.07895	16116.8	316	chr14	104950538	.	G	A	16116.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=5.39;DP=5937;ExcessHet=0;FS=0.563;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=51.18;MQRankSum=-17.92;QD=22.32;ReadPosRankSum=-3.889;SOR=0.771	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,377:377:99:.:.:12345,1130,0:.	17	1	1	0
chr14	104952240	104952240	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C2911G:p.L971V,AHNAK2:NM_138420:exon7:c.C3211G:p.L1071V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	0.0263578	0.0090	0.0298	0.0034	0.0361	0.0021	0.0017	0.0112	0.0183	0.0008732	135	154602	rs201871830	6.524e-05	0.0015	6.97e-05	6.075e-05	0.0009	5.45e-05	5.061e-05	0.0005	0.0004	0.0007	0.0001	0	0.0003	1.88e-05	0.0009	1.801e-05	0.0003	0.0001	0.0005	0.0078	0.0006	0.0005	0.0025	0.0004	0.0004	0.0014	0.0011	0.0014	0	0.0003	0	0.0025	9.535e-05	0.0074	4.485e-05	0	0.0013	0.603	0.05584	T	0.589	0.08245	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.16	0.08945	N	5.76	0.00695	T	-0.41	0.14000	N	0.093	0.07262	-0.8568	0.51491	T	0.001	0.00408	T	9	0.0031139255	0.00052	T	.	.	.	0.044	0.11924	0.26	0.20315	0.0297737177859	0.01360	0.0025048685426689856	0.00232	.	.	0.181649789214	0.00110	T	0.020324	0.16021	T	-0.374297	0.03383	T	-0.775428	0.02594	T	0.000253335798148228	0.00002	T	0.279272	0.04852	T	0.014677103	0.00103	0.024301512	0.00448	0.014677103	0.00103	0.024301512	0.00447	-0.714	0.00732	T	.	.	0.067	0.02370	B	.	.	-3.143251	0.00007	0.001	0.49393409051630993	0.04202	0.00122	0.00764	N	AEFDBI	.	.	.	-3.54864545972126	0.00000	3.202762e-06	-3.59441405111093	0.00000	3.736556e-06	1.0	0.98316	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.74	-7.47	0.01221	-4.250000	0.00303	-20.000000	0.00162	-12.057000	0.00000	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1326:0.4562:0.1897:0.2215	4.564	0.11571	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	.	.	.	.	.	.	.	.	0.05263	677.83	91	chr14	104952240	.	G	C	677.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.626;DP=2677;ExcessHet=0.119;FS=115.271;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.96;MQRankSum=-10.65;QD=2.11;ReadPosRankSum=-5.015;SOR=5.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,25:206:99:0|1:104952198_C_G:505,0,7494:104952198	17	0	2	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1082.41	59	chr15	20534613	.	C	*	1082.41	.	AC=9;AF=0.25;AN=36;BaseQRankSum=0.242;DP=1470;ExcessHet=2.8258;FS=2.589;InbreedingCoeff=-0.1846;MLEAC=9;MLEAF=0.25;MQ=53.63;MQRankSum=0.168;QD=1.42;ReadPosRankSum=2.06;SOR=0.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,11:66:99:0|1:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:270,0,2185:20534604	9	0	9	1
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	2533.1	45	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	*	2533.1	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.391;DP=1435;ExcessHet=5.5644;FS=2.545;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=51.31;MQRankSum=1.09;QD=3.44;ReadPosRankSum=-0.721;SOR=0.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,11:37:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:304,0,1869:20534604	11	0	8	0
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	434.18	45	chr15	20534664	.	CT	*	434.18	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.28;DP=1323;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.6889;MLEAC=14;MLEAF=0.389;MQ=51.72;MQRankSum=0.854;QD=0.68;ReadPosRankSum=-3.234;SOR=0.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,5:37:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:136,0,1287:20534604	4	0	14	1
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	434.55	45	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	*	434.55	.	AC=14;AF=0.412;AN=34;BaseQRankSum=0.882;DP=1318;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.441;MQ=51.07;MQRankSum=1.13;QD=0.68;ReadPosRankSum=-3.191;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,5:37:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:136,0,1287:20534604	3	0	14	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	327.06	45	chr15	20534693	.	T	*	327.06	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.078;DP=1294;ExcessHet=25.4433;FS=1.177;InbreedingCoeff=-0.7344;MLEAC=15;MLEAF=0.395;MQ=50.05;MQRankSum=0.956;QD=0.47;ReadPosRankSum=-1.583;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,5:37:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:136,0,1287:20534604	4	0	15	0
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	276.96	45	chr15	20534699	.	CCTCCTG	*	276.96	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.808;DP=1281;ExcessHet=25.4433;FS=1.176;InbreedingCoeff=-0.7274;MLEAC=15;MLEAF=0.395;MQ=40.86;MQRankSum=-1.387;QD=0.4;ReadPosRankSum=0.802;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,5:37:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:136,0,1287:20534604	4	0	15	0
chr15	20845872	20845872	T	C	exonic	POTEB;POTEB2	.	nonsynonymous SNV	POTEB2:NM_001277303:exon9:c.A1259G:p.N420S,POTEB:NM_001277304:exon9:c.A1259G:p.N420S	.	436	962	122	2	0	126	0.0614634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1023	0.1962	0.1486	0.1165	0.0769	0.0872	0.0804	0.0657	0.0592295	9157	154602	rs79335648	8.749e-05	6.598e-05	5.516e-05	0.0001	0.0007	4.714e-05	3.515e-05	0.0001	4.787e-05	0	0.0007	0	0.0004	0	0	8.064e-05	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.305	0.14256	T	0.839	0.03621	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.32	0.16640	T	-0.63	0.18459	N	0.008	0.00068	.	.	.	.	.	.	.	0.0018360615	0.00025	T	.	.	.	.	.	.	.	.	.	0.006055757321101937	0.00574	1.56174073802	0.88049	0.741252064705	0.73158	T	0.003477	0.02879	T	-0.366787	0.03760	T	-0.76464	0.02949	T	.	.	.	0.39826	0.10085	T	0.023043897	0.01012	0.036473703	0.03101	0.023043897	0.01012	0.036473703	0.03101	-3.291	0.13621	T	.	.	0.079	0.07412	B	.	.	-0.426343	0.02115	0.200	0.31482124279507218	0.01776	0.00335	0.01744	N	AEFI	0.024797	0.01593	N	.	.	.	.	.	.	1.07113283285327E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	-2.79	0.05494	-0.085000	0.11215	-10.088000	0.00741	-0.694000	0.04098	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.2288:0.3611:0.0:0.4101	2.473	0.04291	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.094329	0.101266	0.100000	0.132479	0.000000	0.052632	0.083942	0.073171	0.02632	920.33	39	chr15	20845872	.	T	C	920.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.348;DP=1429;ExcessHet=0;FS=0.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.75;MQRankSum=-1.28;QD=1.25;ReadPosRankSum=1.94;SOR=0.789	GT:AD:DP:GQ:PL	0/1:620,116:736:99:934,0,15075	18	0	1	0
chr15	21410951	21410951	C	T	exonic	POTEB3	.	nonsynonymous SNV	POTEB3:NM_207355:exon10:c.G1460A:p.G487E	.	1167	351	2	2	0	6	0.00847458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00149846368984	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201599781	3.94e-05	0.0049	5.465e-05	2.42e-05	0.0010	2.949e-05	2.589e-05	0.0005	0.0004	0.0010	0	6.538e-05	0	5.229e-05	0	3.139e-05	5.017e-05	1.542e-05	0.0003	0.0093	0.0002	0.0003	0.0009	0.0002	0.0001	0.0005	0.0003	0.0009	0	0.0003	0	0.0004	0	0	0.0001	0	0.0003	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.08088	.	.	.	.	.	.	.	0.13723475	0.26107	T	0.001498	0.02318	T	.	.	.	.	0.21279746466	0.20884	0.012663733124182534	0.01225	.	.	0.758689165115	0.75735	T	0.018113	0.14658	T	-0.257661	0.13174	T	-0.607889	0.12158	T	.	.	.	0.689231	0.29860	T	0.04479156	0.07223	0.07305423	0.15832	0.04479156	0.07222	0.07305423	0.15832	-2.044	0.03351	T	.	.	0.102	0.18037	B	.	.	1.760732	0.22396	15.60	0.38208231936452719	0.02563	0.24951	0.22551	N	AEFI	0.060037	0.11384	N	.	.	.	.	.	.	1.21202139914897E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.74	0.751	0.17541	3.206000	0.50800	0.673000	0.20610	0.284000	0.18682	0.994000	0.38300	0.001000	0.17328	0.003000	0.05239	0.0:0.7705:0.0:0.2295	4.253	0.10152	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	157.13	34	chr15	21410951	.	C	T	157.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.62;DP=612;ExcessHet=0;FS=0;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.029;MQ=39.33;MQRankSum=-0.812;QD=13.09;ReadPosRankSum=-1.03;SOR=0.446	GT:AD:DP:GQ:PL	0/1:7,5:12:99:170,0,252	16	0	1	2
chr15	22080637	22080637	A	G	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.A13G:p.N5D	.	1026	484	8	4	0	16	0.0162602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	.	0.0082	.	0.0119	0.0349	0.0090	0	0.0041	0.0134	0.0091	0.0025	0.0098705	1526	154602	rs111484216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.56192	D	0.98	0.59353	D	0.915	0.65091	D	0.000114	0.50451	D	0.000000	0.87046	0.28215	N	2.895	0.83812	M	.	.	.	.	.	.	0.111	0.09772	-1.1218	0.02221	T	0.018	0.07518	T	10	0.0040432215	0.00079	T	.	.	.	.	.	.	.	.	.	0.07997864277807154	0.07932	.	.	.	.	.	0.033863	0.23088	T	-0.5922	0.00163	T	-0.604507	0.12435	T	0.055267436674093	0.06401	T	0.643236	0.25495	T	0.10142145	0.23956	0.17873825	0.40562	0.10142145	0.23956	0.17873825	0.40562	-8.976	0.67542	D	.	.	0.170	0.37274	B	.	.	4.391943	0.67793	25.1	0.99724402241935428	0.82266	0.90083	0.50987	D	AEFGBCI	0.574722	0.57739	D	0.574802962569376	0.71604	5.676308	0.399994223797025	0.61564	4.35835	0.991497242129926	0.32508	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	3.058000	0.49632	8.721000	0.78162	0.334000	0.19664	0.992000	0.37556	1.000000	0.68203	0.469000	0.28319	1.0:0.0:0.0:0.0	8.582	0.32798	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.037261	0.025253	0.054348	0.067251	0.000000	0.043103	0.015244	0.007576	0.1786	1435.25	24	chr15	22080637	.	A	G	1435.25	.	AC=5;AF=0.179;AN=28;BaseQRankSum=0.507;DP=313;ExcessHet=0;FS=0;InbreedingCoeff=0.7562;MLEAC=6;MLEAF=0.214;MQ=32.99;MQRankSum=-0.457;QD=24.75;ReadPosRankSum=0.746;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,17:17:51:589,51,0	11	2	1	5
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.9062	36371.9	254	chr15	22081297	.	T	C	36371.9	.	AC=29;AF=0.906;AN=32;BaseQRankSum=7.18;DP=2254;ExcessHet=0.0128;FS=82.112;InbreedingCoeff=0.2;MLEAC=32;MLEAF=1;MQ=39;MQRankSum=-9.429;QD=21.37;ReadPosRankSum=-0.973;SOR=4.312	GT:AD:DP:GQ:PL	1/1:0,91:91:99:2977,274,0	0	13	3	3
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2863.0	45	chr15	23361381	.	G	*	2863.0	.	AC=7;AF=0.184;AN=38;BaseQRankSum=1;DP=1640;ExcessHet=6.9875;FS=2.005;InbreedingCoeff=-0.3583;MLEAC=7;MLEAF=0.184;MQ=57.9;MQRankSum=0.431;QD=2.66;ReadPosRankSum=0.105;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,25:74:99:.:.:894,0,1891:.	12	0	7	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	748.69	45	chr15	23361385	.	C	*	748.69	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.781;DP=1415;ExcessHet=5.3738;FS=2.904;InbreedingCoeff=-0.3103;MLEAC=7;MLEAF=0.184;MQ=56.95;MQRankSum=-1.859;QD=0.78;ReadPosRankSum=2.42;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,25:74:99:.:.:894,0,1891:.	12	0	7	0
chr15	23364400	23364400	C	A	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon15:c.C766A:p.Q256K	.	48	1435	31	2	6	41	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00481352493947	.	0.00299521	0.0033	0.0060	0.0025	0.0011	0.0026	0.0038	0.0069	0.0018	0.0028137	435	154602	rs190023905	0.0018	0.0029	0.0017	0.0019	0.0181	0.0018	0.0017	0.0152	0.0141	0.0021	0.0015	0.0135	0.0006	0.0021	0.0181	0.0015	0.0025	0.0015	0.0015	0.0024	0.0015	0.0015	0.0016	0.0013	0.0013	0.0013	0.0012	0.0003	0	0.0016	0.0135	0.0012	0.0019	0.0207	0.0015	0.0010	0.0013	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.57	0.89692	D	-0.18	0.09796	N	0.184	0.19995	.	.	.	.	.	.	.	0.004205942	0.00084	T	0.004814	0.12035	T	.	.	.	.	0.86273415683	0.86140	0.3669056785769498	0.36604	0.763659519793	0.64390	.	.	.	.	.	.	-0.305839	0.08119	T	-0.231107	0.51665	T	.	.	.	0.476552	0.14308	T	0.04579843	0.07558	0.04903152	0.07407	0.04579843	0.07558	0.04903152	0.07407	-3.619	0.18132	T	.	.	0.075	0.05668	B	.	.	0.292315	0.06685	3.189	0.58087947744829294	0.05914	0.28105	0.23462	N	AEFCI	0.187209	0.31450	N	.	.	.	.	.	.	1.42962172204828E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.83	-0.343	0.12004	0.830000	0.27115	1.532000	0.27166	0.278000	0.18600	1.000000	0.71638	0.003000	0.18671	0.001000	0.02609	0.0:0.7074:0.2926:0.0	6.797	0.22917	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	6640.54	73	chr15	23364400	.	C	A	6640.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.67;DP=1243;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=57.73;MQRankSum=2.4;QD=13.69;ReadPosRankSum=0.104;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,93:177:99:1|0:23364391_G_C:2485,0,3175:23364391	17	0	2	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	44113.5	193	chr15	23440492	.	C	*	44113.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.78;DP=2930;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=19;MLEAF=0.5;MQ=58;MQRankSum=-0.314;QD=15.57;ReadPosRankSum=-0.294;SOR=0.315	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,79:164:99:.:.:5864,2765,3336:.	0	0	19	0
chr15	28843134	28843134	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G970A:p.E324K	.	524	965	30	3	0	36	0.0183113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1204083828	0.0003	0.0018	0.0002	0.0003	0.0013	0.0002	0.0002	0.0009	0.0008	0.0003	0.0010	0.0004	0.0013	0.0001	0.0003	0.0002	0.0004	0.0009	0.0009	0.0085	0.0007	0.0011	0.0017	0.0008	0.0007	0.0013	0.0012	0.0017	0	0.0012	0.0006	0.0011	0.0009	0	0.0005	0.0010	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054320782	0.05765	T	.	.	.	.	.	.	.	.	.	0.0796059710434255	0.07895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552145	0.19060	T	0.026396565	0.01691	0.06522381	0.13188	0.026396565	0.01691	0.06522381	0.13188	-7.191	0.55416	T	.	.	0.093	0.13969	B	.	.	0.927256	0.13022	9.528	0.40818859624842702	0.02905	0.00385	0.01942	N	AEFCI	.	.	.	.	.	.	.	.	.	2.69831305298825E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-2.618000	0.00953	-2.469000	0.03716	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0E-4:0.3485:0.6514:0.0	5.585	0.16554	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	378.55	10	chr15	28843134	.	C	T	378.55	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-1.242;DP=199;ExcessHet=1.3;FS=8.177;InbreedingCoeff=-0.1891;MLEAC=4;MLEAF=0.111;MQ=54.14;MQRankSum=-0.854;QD=8.23;ReadPosRankSum=1.97;SOR=1.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,1:6:27:0|1:28843134_C_T:27,0,207:28843134	14	0	4	1
chr15	28843135	28843135	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G969T:p.Q323H	.	518	971	30	3	0	36	0.0182002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1233704262	0.0003	0.0018	0.0002	0.0004	0.0013	0.0003	0.0002	0.0009	0.0008	0.0004	0.0010	0.0005	0.0013	0.0002	0.0003	0.0002	0.0005	0.0008	0.0008	0.0084	0.0006	0.0010	0.0014	0.0007	0.0006	0.0011	0.0010	0.0014	0	0.0011	0.0003	0.0010	0.0009	0	0.0004	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09346208	0.16541	T	.	.	.	.	.	.	.	.	.	0.04198620401242224	0.04143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467153	0.13745	T	0.03609981	0.04375	0.057831366	0.10583	0.03609981	0.04374	0.057831366	0.10582	-9.024	0.67852	D	.	.	0.328	0.55089	B	.	.	1.202482	0.15947	12.21	0.53190382402369574	0.04891	0.05610	0.11516	N	AEFCI	.	.	.	.	.	.	.	.	.	1.60012443190448E-5	0.02871	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	0.047000	0.13941	0.456000	0.18569	0.356000	0.20028	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	378.71	10	chr15	28843135	.	C	A	378.71	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-1.242;DP=199;ExcessHet=1.3;FS=8.177;InbreedingCoeff=-0.1909;MLEAC=4;MLEAF=0.111;MQ=54.14;MQRankSum=-0.854;QD=8.23;ReadPosRankSum=1.97;SOR=1.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,1:6:27:0|1:28843134_C_T:27,0,207:28843134	14	0	4	1
chr15	28843142	28843142	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G962T:p.R321L	.	544	955	21	2	0	25	0.0129199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191857706	0.0001	0.0011	0.0001	0.0001	0.0010	9.584e-05	8.968e-05	0.0004	0.0003	0.0005	0.0005	0.0004	0.0005	7.934e-05	0.0010	6.784e-05	9.229e-05	0.0006	0.0007	0.0077	0.0006	0.0008	0.0012	0.0006	0.0005	0.0008	0.0007	0.0011	0	0.0012	0.0003	0.0006	0.0009	0	0.0004	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076286405	0.11898	T	.	.	.	.	.	.	.	.	.	0.030957340557654735	0.03044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668433	0.27736	T	0.075750865	0.17086	0.09239469	0.21771	0.075750865	0.17086	0.09239469	0.21771	-8.631	0.65293	D	.	.	0.105	0.19276	B	.	.	0.254151	0.06330	2.792	0.30357631313706235	0.01656	0.00529	0.02453	N	AEFCI	.	.	.	.	.	.	.	.	.	2.82397054557777E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.905000	0.04184	-6.198000	0.01467	-0.833000	0.02857	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3272:0.3435:0.3293:0.0	2.202	0.03687	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	387.69	11	chr15	28843142	.	C	A	387.69	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-0.842;DP=199;ExcessHet=1.3;FS=8.536;InbreedingCoeff=-0.1907;MLEAC=4;MLEAF=0.111;MQ=54.2;MQRankSum=-0.637;QD=8.81;ReadPosRankSum=1.46;SOR=1.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,1:5:30:0|1:28843134_C_T:30,0,165:28843134	14	0	4	1
chr15	32401403	32401403	T	A	exonic	GOLGA8K;GOLGA8T	.	nonsynonymous SNV	GOLGA8K:NM_001282493:exon2:c.A121T:p.S41C	.	645	845	23	9	0	41	0.0236857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00678986209873	.	.	0.0042	0	0	0	0	0.0079	0	0	9.7e-05	15	154602	rs200674603	0.0094	0.0100	0.0087	0.0101	0.0203	0.0092	0.0092	0.0194	0.0191	0.0014	0.0036	0.0050	0.0001	0.0052	0.0086	0.0094	0.0108	0.0203	0.0069	0.0070	0.0073	0.0065	0.0145	0.0065	0.0063	0.0110	0.0098	0.0020	0.0101	0.0060	0.0066	0.0003	0.0025	0	0.0099	0.0071	0.0145	0.004	0.65419	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-3.58	0.69118	D	0.164	0.17278	-0.8777	0.49943	T	0.141	0.46072	T	6	0.0053943694	0.00118	T	0.00679	0.17953	T	0.048	0.13305	.	.	0.0138822411134	0.00435	0.14018493067096638	0.13941	3.36241963825	0.99660	.	.	.	.	.	.	-0.181247	0.23550	T	-0.498125	0.22542	T	0.0572239640983347	0.06724	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20469	B	.	.	1.592556	0.20368	14.72	0.97014196961605725	0.31997	0.01335	0.04597	N	AEFI	0.037893	0.05280	N	-0.682610803543696	0.16517	0.8422463	-0.961490719195059	0.10657	0.5381564	4.01112703668882E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.68	-2.84	0.05408	0.017000	0.13294	-0.444000	0.09141	0.204000	0.17941	0.002000	0.15269	0.000000	0.08366	0.155000	0.20479	0.0:0.3897:0.2715:0.3388	3.195	0.06234	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	926.39	34	chr15	32401403	.	T	A	926.39	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.422;DP=560;ExcessHet=0;FS=3.979;InbreedingCoeff=0.7741;MLEAC=2;MLEAF=0.053;MQ=37.27;MQRankSum=0.051;QD=26.47;ReadPosRankSum=-1.338;SOR=1	GT:AD:DP:GQ:PL	1/1:1,34:35:65:953,65,0	18	1	0	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4091	5435.43	110	chr15	33066576	.	A	G	5435.43	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-0.723;DP=1826;ExcessHet=5.3738;FS=195.705;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.545;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=0.903;SOR=10.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,14:99:99:0|1:33066576_A_G:234,0,3381:33066576	2	0	9	8
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4545	5964.23	102	chr15	33066577	.	C	G	5964.23	.	AC=10;AF=0.455;AN=22;BaseQRankSum=-1.706;DP=1809;ExcessHet=6.9875;FS=214.034;InbreedingCoeff=-0.5833;MLEAC=13;MLEAF=0.591;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=0.759;SOR=11.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,14:99:99:0|1:33066576_A_G:234,0,3381:33066576	1	0	10	8
chr15	33066579	33066579	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306C:p.E436Q	.	.	.	.	.	.	.	.	.	.	.	3676472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.0465556673304	.	.	2.721e-05	0	0	0	0	4.859e-05	0	0	1.94e-05	3	154602	rs955154800	2.466e-05	2.805e-05	3.135e-05	1.79e-05	3.15e-05	1.806e-05	1.603e-05	2.287e-05	2.024e-05	0	0	0	0	1.874e-05	0	3.15e-05	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.286	0.60972	T	1.0	0.90584	D	0.989	0.81110	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.2	0.61923	T	-1.07	0.39314	N	0.607	0.62442	-0.3966	0.72134	T	0.409	0.75810	T	8	0.5905696	0.66356	D	0.046556	0.62513	D	0.220	0.51569	0.204	0.11936	0.824378962961	0.82271	.	.	0.0221738766814	0.02225	.	.	.	.	.	.	-0.0740485	0.40679	T	-0.236485	0.51141	T	0.808419227600098	0.46935	D	.	.	.	.	.	.	.	.	.	.	.	-8.327	0.63277	D	.	.	0.419	0.64113	A	.;.	.;.	2.541376	0.32879	19.17	0.99614688724551159	0.75052	0.94574	0.61609	D	AEFBCI	0.820935	0.74161	D	0.762264303690397	0.83701	8.086839	0.787779339582059	0.88930	9.771612	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2667	3466.35	104	chr15	33066579	.	C	G	3466.35	.	AC=8;AF=0.267;AN=30;BaseQRankSum=-4.77;DP=1876;ExcessHet=5.3738;FS=177.509;InbreedingCoeff=-0.4075;MLEAC=9;MLEAF=0.3;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.676;SOR=10.462	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,11:99:83:0|1:33066576_A_G:83,0,3577:33066576	7	0	8	4
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4091	3779.55	104	chr15	33066580	.	C	G	3779.55	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-3.599;DP=1781;ExcessHet=5.3738;FS=184.997;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.545;MQ=60;MQRankSum=0;QD=4.06;ReadPosRankSum=0.608;SOR=10.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,11:100:81:0|1:33066576_A_G:81,0,3584:33066576	2	0	9	8
chr15	33066583	33066583	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1302C:p.E434D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0174432321193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.252	0.29056	T	0.724	0.62824	P	0.292	0.58300	B	0.000000	0.84330	D	0.049723	.	.	.	.	.	.	1.03	0.48142	T	-0.87	0.23590	N	0.263	0.29774	-0.6821	0.61275	T	0.170	0.51052	T	8	0.18176183	0.33423	T	0.017443	0.39139	T	0.205	0.49236	0.196	0.10839	0.633120732306	0.63011	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.101551	0.36169	T	-0.383648	0.35295	T	0.987011551856995	0.77596	D	.	.	.	.	.	.	.	.	.	.	.	-7.933	0.60613	D	.	.	0.457	0.69267	A	.;.	.;.	1.631232	0.20829	14.93	0.99234608538238822	0.56342	0.62108	0.31682	D	AEFBCI	0.207444	0.33361	N	0.193011064254835	0.50863	3.272384	0.226642513300989	0.51332	3.316546	0.999944989826091	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	0.147000	0.16021	1.800000	0.28874	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.964000	0.52637	0.0:0.7464:0.0:0.2536	10.665	0.44923	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2088.47	103	chr15	33066583	.	C	G	2088.47	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-3.267;DP=1752;ExcessHet=2.9153;FS=173.431;InbreedingCoeff=-0.3173;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.86;ReadPosRankSum=0.79;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,11:100:81:0|1:33066576_A_G:81,0,3549:33066576	10	0	5	4
chr15	34354554	34354554	C	T	exonic	NUTM1	.	nonsynonymous SNV	NUTM1:NM_001284293:exon5:c.C1154T:p.A385V,NUTM1:NM_001284292:exon6:c.C1184T:p.A395V,NUTM1:NM_175741:exon6:c.C1100T:p.A367V	.	407	1095	19	1	0	21	0.00949796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0150694727848	0.0025	0.000199681	0.0025	0.0004	0.0016	0	0	0.0034	0.0077	0.0027	0.0024062	372	154602	rs149533722	0.0035	0.0035	0.0035	0.0035	0.0059	0.0034	0.0034	0.0043	0.0038	0.0008	0.0014	0.0070	0	0.0002	0.0059	0.0040	0.0029	0.0028	0.0023	0.0023	0.0025	0.0020	0.0038	0.0021	0.0020	0.0035	0.0033	0.0008	0.0022	0.0010	0.0058	0	9.427e-05	0	0.0038	0.0024	0.0015	0.212	0.19639	T	0.247	0.24406	T	1.0	0.90584	D	1.0	0.97372	D	0.000520	0.43753	N	0.101201	0.992827	0.41754	D	1.715	0.44382	L	2.75	0.11622	T	-2.57	0.55501	D	0.691	0.70351	-1.1652	0.00637	T	0.064	0.26349	T	10	0.014915645	0.00313	T	0.015069	0.35586	T	0.143	0.38195	.	.	0.55973633643	0.55634	0.40394355054670594	0.40310	0.389946800184	0.40218	0.512118041515	0.40519	T	0.01496	0.12641	T	-0.361505	0.04045	T	-0.290825	0.45687	T	0.0310295087007935	0.02151	T	0.743726	0.36333	T	0.15332091	0.34759	0.32188246	0.58133	0.15332091	0.34759	0.32188246	0.58132	-6.306	0.48770	T	.	.	0.321	0.56058	B	.;.;.;.	.;.;.;.	3.356031	0.46308	22.3	0.99923255424450752	0.98917	0.89721	0.50369	D	AEFDBI	0.505489	0.53661	D	0.562549965825917	0.70848	5.562431	0.558645873396205	0.72000	5.741514	0.99999509389699	0.74766	0.360534	0.05665	1	0.547309	0.14657	0	0.566861	0.19136	0	0.613276	0.41899	0	.	.	5.32	5.32	0.75377	4.304000	0.58899	2.246000	0.31650	0.549000	0.26987	0.996000	0.39380	0.979000	0.30280	0.982000	0.59238	0.0:1.0:0.0:0.0	16.268	0.82427	679	0.60090	.;Nuclear Testis  protein, N-terminal;.;Nuclear Testis  protein, 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	0.007049	0.005051	0.004076	0.008772	0.000000	0.000000	0.012195	0.007576	0.02632	2296.33	34	chr15	34354554	.	C	T	2296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=809;ExcessHet=0;FS=5.674;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.77;SOR=1.131	GT:AD:DP:GQ:PL	0/1:96,81:177:99:2310,0,2698	18	0	1	0
chr15	40356171	40356171	T	0	exonic	PHGR1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	6365.0	46	chr15	40356171	.	T	*	6365.0	.	AC=3;AF=0.088;AN=34;BaseQRankSum=1.8;DP=946;ExcessHet=8.9063;FS=19.546;InbreedingCoeff=-0.4615;MLEAC=3;MLEAF=0.088;MQ=59.77;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.169;SOR=1.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,19:66:99:.:.:532,0,1725:.	14	0	3	2
chr15	40356195	40356195	T	0	exonic	PHGR1	.	.	.	.	539	674	108	8	193	317	0.0842391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3591.87	34	chr15	40356195	.	T	*	3591.87	.	AC=3;AF=0.1;AN=30;BaseQRankSum=1.14;DP=879;ExcessHet=5.3738;FS=27.404;InbreedingCoeff=-0.4074;MLEAC=3;MLEAF=0.1;MQ=59.85;MQRankSum=0;QD=7.91;ReadPosRankSum=-0.704;SOR=2.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,19:66:99:.:.:532,0,1725:.	12	0	3	4
chr15	40356196	40356196	G	0	exonic	PHGR1	.	.	.	.	536	677	108	8	193	317	0.0838972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3486.87	33	chr15	40356196	.	G	*	3486.87	.	AC=3;AF=0.1;AN=30;BaseQRankSum=2.59;DP=867;ExcessHet=5.3738;FS=29.501;InbreedingCoeff=-0.4074;MLEAC=3;MLEAF=0.1;MQ=59.84;MQRankSum=0;QD=7.78;ReadPosRankSum=-0.412;SOR=2.136	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,19:66:99:.:.:532,0,1725:.	12	0	3	4
chr15	40356197	40356197	G	0	exonic	PHGR1	.	.	.	.	535	678	108	8	193	317	0.0837838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3442.87	36	chr15	40356197	.	G	*	3442.87	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-0.677;DP=861;ExcessHet=5.3738;FS=31.671;InbreedingCoeff=-0.4074;MLEAC=3;MLEAF=0.1;MQ=59.84;MQRankSum=0;QD=7.81;ReadPosRankSum=-0.56;SOR=2.2	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,19:66:99:.:.:532,0,1725:.	12	0	3	4
chr15	40368159	40368159	G	A	exonic	DISP2	.	nonsynonymous SNV	DISP2:NM_033510:exon8:c.G2047A:p.A683T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.0210675015562	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs749305114	7.189e-07	6.84e-06	1.425e-06	0	2.755e-05	0	0	.	.	0	2.755e-05	0	0	0	0	0	0	0	6.59e-06	6.568e-06	1.288e-05	0	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	0.23	0.18308	T	0.04	0.50809	D	0.152	0.28062	B	0.037	0.23121	B	0.160414	0.17681	N	0.591860	1	0.08975	N	1.245	0.31408	L	2.7	0.12162	T	-0.14	0.09135	N	0.052	0.02366	-0.9930	0.31827	T	0.013	0.05273	T	10	0.05350566	0.05552	T	0.021068	0.43780	T	0.005	0.00259	0.354	0.35408	0.0297737177859	0.01360	0.40790287443628614	0.40706	0.410529212991	0.41835	0.764175653458	0.76552	T	0.135087	0.46670	T	-0.395931	0.02462	T	-0.686523	0.06592	T	0.133103460073471	0.15666	T	0.644736	0.25622	T	0.04432671	0.07067	0.06278368	0.12336	0.04432671	0.07066	0.06278368	0.12336	-6.118	0.47256	T	.	.	0.115	0.22933	B	.	.	1.303718	0.17060	12.93	0.94737442854187193	0.25425	0.04283	0.09824	N	ALL	0.068986	0.13634	N	-1.08361892093574	0.06944	0.321164	-1.12032096009933	0.07312	0.3552083	1.0	0.98316	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.79	-0.8	0.10347	0.094000	0.14946	0.723000	0.21028	0.654000	0.53741	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3149:0.1099:0.2228:0.3524	0.604	0.00701	706	0.57215	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	682.33	36	chr15	40368159	.	G	A	682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.91;DP=711;ExcessHet=0;FS=4.467;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=0.161;SOR=0.26	GT:AD:DP:GQ:PL	0/1:22,27:49:99:696,0,619	18	0	1	0
chr15	41568965	41568965	G	A	exonic	TYRO3	.	nonsynonymous SNV	TYRO3:NM_001330264:exon9:c.G1060A:p.A354T,TYRO3:NM_006293:exon9:c.G1195A:p.A399T	.	425	1084	13	0	0	13	0.00596057	.	.	.	2380029	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00886099944089	7.7e-05	0.000798722	0.0002	9.626e-05	0	0	0	0.0002	0	0.0003	0.0001552	24	154602	rs199712738	0.0001	0.0001	9.937e-05	0.0001	0.0049	0.0001	0.0001	0.0035	0.0030	8.961e-05	0.0002	0	0	0	0.0049	8.363e-05	0.0004	0.0003	0.0001	0.0001	8.994e-05	0.0001	0.0010	7.086e-05	5.743e-05	0.0004	0.0003	7.22e-05	0	6.535e-05	0	0	0	0	0.0001	0	0.0010	0.172	0.23450	T	0.556	0.09236	T	0.097	0.25541	B	0.175	0.35598	B	0.018131	0.27555	N	0.173587	0.936306	0.37151	D	1.7	0.43825	L	0.43	0.56772	T	-0.88	0.23808	N	0.163	0.17553	-0.9657	0.38073	T	0.138	0.45526	T	10	0.028312981	0.00965	T	0.008861	0.23366	T	0.061	0.17616	.	.	0.19168177325	0.18762	0.32170240943251965	0.32083	0.421253415307	0.42638	0.456272006035	0.32801	T	0.010157	0.43794	T	-0.325051	0.06492	T	-0.376729	0.36104	T	0.0312639685649748	0.02188	T	0.854215	0.54045	D	0.21289685	0.43655	0.13007645	0.31264	0.21289685	0.43655	0.13007645	0.31264	-4.064	0.24757	T	.	.	0.070	0.03372	B	.;.	.;.	4.077361	0.60628	24.2	0.99832759558270867	0.91456	0.80639	0.40225	D	AEFDGBCI	0.416910	0.48517	N	-0.00133697401445527	0.41793	2.506364	0.170250811436877	0.48224	3.041325	0.999999995513229	0.74766	0.733237	0.96898	0	0.610034	0.51514	0	0.600757	0.32118	0	0.727631	0.95156	0	.	.	5.28	5.28	0.74118	2.336000	0.43597	7.585000	0.61076	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8419:0.1581	13.381	0.60210	178	0.93097	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1388.33	33	chr15	41568965	.	G	A	1388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.865;DP=905;ExcessHet=0;FS=0.587;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.52;MQRankSum=3.19;QD=8.21;ReadPosRankSum=-1.228;SOR=0.741	GT:AD:DP:GQ:PL	0/1:107,62:169:99:1402,0,2838	18	0	1	0
chr15	41573817	41573817	-	ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	splicing	TYRO3	NM_006293:exon18:c.2282+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG;NM_001330264:exon18:c.2147+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	.	.	.	425	1069	16	0	12	28	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-06	6.84e-06	8.172e-06	5.504e-06	5.398e-06	3.46e-06	2.52e-06	1.94e-06	1.28e-06	0	0	0	0	5.632e-05	0	5.398e-06	1.656e-05	0	0.0005	0.0014	0.0005	0.0005	0.0006	0.0004	0.0003	0.0004	0.0004	0.0003	0	0.0003	0.0009	0.0004	0.0009	0	0.0006	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2260.29	36	chr15	41573817	.	T	TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	2260.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.35;DP=1290;ExcessHet=0;FS=12.994;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-2.953;SOR=1.568	GT:AD:DP:GQ:PL	0/1:117,64:181:99:2274,0,4716	18	0	1	0
chr15	41847505	41847505	C	T	exonic	JMJD7-PLA2G4B;PLA2G4B	.	nonsynonymous SNV	PLA2G4B:NM_001114633:exon19:c.C2116T:p.R706W,JMJD7-PLA2G4B:NM_005090:exon24:c.C2809T:p.R937W	.	413	1081	27	1	0	29	0.013236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	.	0.0003	0.00279553	0.0026	0.0006	0.0011	0.0001	0	0.0010	0.0023	0.0138	0.0022186	343	154602	rs141583854	0.0016	0.0015	0.0011	0.0020	0.0155	0.0015	0.0015	0.0148	0.0146	0.0004	0.0011	0.0033	5.062e-05	7.581e-05	0.0054	0.0006	0.0017	0.0155	0.0013	0.0013	0.0011	0.0015	0.0127	0.0012	0.0011	0.0101	0.0092	0.0004	0	0.0030	0.0055	0.0002	9.416e-05	0	0.0007	0.0024	0.0127	0.006	0.61437	D	0.001	0.83351	D	0.999	0.77913	D	0.847	0.60522	P	0.476869	0.12212	N	0.708561	0.999749	0.48716	D	2.89	0.83701	M	3.57	0.04645	T	-5.38	0.84954	D	0.54	0.60241	-1.0668	0.10131	T	0.026	0.11309	T	9	0.0069566667	0.00158	T	.	.	.	0.235	0.53788	.	.	0.46614307118	0.46241	0.6382862768364067	0.64143	0.118988834109	0.13405	0.233523100615	0.02239	T	0.251708	0.62199	T	-0.402265	0.02237	T	-0.338926	0.40465	T	0.0475804560764313	0.05069	T	0.90391	0.66280	D	0.12414599	0.29134	0.09385466	0.22188	0.12414599	0.29134	0.09385466	0.22188	-8.139	0.62013	D	.	.	0.115	0.23005	B	.;.;.	.;.;.	4.018200	0.59328	24.1	0.99812091658319146	0.89620	0.12479	0.17294	N	AEFGBCI	0.177509	0.30476	N	-0.19786510668765	0.33222	1.882414	-0.378526987946722	0.25638	1.411171	0.941950303771863	0.27500	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	4.87	1.74	0.23636	0.116000	0.15393	1.494000	0.26909	0.598000	0.34611	0.015000	0.19116	0.797000	0.26915	0.303000	0.24570	0.6845:0.3155:0.0:0.0	13.838	0.62917	238	0.90711	.;Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain;Lysophospholipase, catalytic domain|Lysophospholipase, 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	0.008290	0.000000	0.008152	0.006993	0.000000	0.008621	0.003049	0.022727	0.05263	4229.83	37	chr15	41847505	.	C	T	4229.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.56;DP=892;ExcessHet=0.119;FS=3.987;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=0.252;SOR=0.509	GT:AD:DP:GQ:PL	0/1:63,79:142:99:2225,0,1569	17	0	2	0
chr15	43021291	43021291	A	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon27:c.T2924C:p.I975T	Johanson-Blizzard syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0568671016026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287101894	1.386e-06	1.508e-05	0	2.783e-06	2.329e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.329e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.877	0.48223	P	0.335	0.42239	B	0.000088	0.51296	D	0.168957	0.999825	0.81001	D	1.87	0.49600	L	0.39	0.57419	T	-3.24	0.65171	D	0.897	0.90251	-0.5780	0.65696	T	0.227	0.59208	T	10	0.901292	0.89490	D	0.056867	0.66759	D	0.352	0.67326	0.75	0.88071	0.700849342337	0.69825	0.45486979996443216	0.45404	0.331662542844	0.35236	0.694372951984	0.66333	T	0.758848	0.93451	D	0.0949073	0.63738	D	-0.00459463	0.70038	D	0.908208012580872	0.56272	D	0.962104	0.85685	D	0.3664358	0.58321	0.44078487	0.67385	0.3664358	0.58321	0.44078487	0.67385	-7.526	0.57793	D	0.803226725685942	0.87956	0.531	0.66670	A	.;.	.;.	3.868307	0.56145	23.7	0.99495853286271851	0.67744	0.99753	0.99211	D	AEFBI	0.836665	0.75439	D	0.56937207432988	0.71269	5.625336	0.579739048421578	0.73488	5.978799	0.999853971234939	0.44174	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	8.293000	0.89858	11.232000	0.90136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.856	0.69969	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	247.85	118	chr15	43021291	.	A	G	247.85	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.978;DP=1871;ExcessHet=1.3;FS=121.683;InbreedingCoeff=-0.1377;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=0.139;SOR=11.592	GT:AD:DP:GQ:PL	0/1:107,31:138:7:7,0,1966	14	0	5	0
chr15	43369112	43369112	T	C	exonic	ZSCAN29	.	nonsynonymous SNV	ZSCAN29:NM_152455:exon2:c.A334G:p.K112E,ZSCAN29:NM_001372080:exon3:c.A334G:p.K112E	.	426	1088	6	2	0	10	0.00457457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	.	.	0.00319489	0.0014	0	8.681e-05	0	0	1.538e-05	0	0.0140	0.0013907	215	154602	rs576124859	0.0006	0.0007	0.0003	0.0009	0.0103	0.0006	0.0006	0.0097	0.0095	3.081e-05	0.0002	8.225e-05	2.573e-05	0	0.0009	5.508e-06	0.0008	0.0103	0.0005	0.0005	0.0003	0.0007	0.0145	0.0004	0.0004	0.0118	0.0108	2.406e-05	0	0.0001	0	0	0	0	2.94e-05	0	0.0145	0.481	0.24955	T	0.557	0.15109	T	0.993	0.65571	D	0.971	0.72444	D	0.000195	0.48115	D	0.000000	0.884664	0.27989	N	2.08	0.57402	M	3.21	0.07236	T	-0.52	0.17003	N	0.501	0.54496	-1.0510	0.14119	T	0.033	0.14247	T	10	0.0058447123	0.00130	T	.	.	.	0.092	0.26621	0.306	0.27646	0.255777322467	0.25185	0.4342227227411806	0.43339	0.570105786278	0.53176	0.639073371887	0.58432	T	0.002625	0.08127	T	-0.375335	0.03333	T	-0.302524	0.44459	T	0.0469593695520166	0.04958	T	0.0618938	0.00602	T	0.18116854	0.39274	0.106476456	0.25617	0.18116854	0.39274	0.106476456	0.25616	-4.251	0.27484	T	.	.	0.293	0.52418	B	.;.;.;.	.;.;.;.	3.454517	0.48119	22.6	0.95770948011286927	0.27778	0.67931	0.33613	D	AEFBCI	0.299550	0.40858	N	-0.0985778801183515	0.37454	2.17931	-0.0176098948465346	0.38919	2.299945	0.999581926391687	0.40607	0.722319	0.85440	0	0.662677	0.63036	0	0.698795	0.65105	0	0.669	0.65921	0	.	.	5.72	1.77	0.23848	1.461000	0.34866	4.867000	0.45528	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.4151:0.5849	10.723	0.45251	16	0.98727	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	795.33	32	chr15	43369112	.	T	C	795.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.002;DP=615;ExcessHet=0;FS=2.837;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=-0.345;SOR=1.209	GT:AD:DP:GQ:PL	0/1:20,28:48:99:809,0,553	18	0	1	0
chr15	43477653	43477653	A	G	exonic	TP53BP1	.	nonsynonymous SNV	TP53BP1:NM_001141979:exon8:c.T895C:p.S299P,TP53BP1:NM_001141980:exon8:c.T895C:p.S299P,TP53BP1:NM_005657:exon8:c.T880C:p.S294P	.	422	1075	25	0	0	25	0.0114943	.	.	.	717955	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.071	.	0.0064	0.00319489	0.0064	0.0008	0.0022	0	0.0039	0.0076	0.0022	0.0125	0.0063647	984	154602	rs61751060	0.0070	0.0070	0.0067	0.0073	0.0139	0.0069	0.0068	0.0133	0.0130	0.0008	0.0032	0.0069	2.521e-05	0.0033	0.0111	0.0072	0.0062	0.0139	0.0048	0.0048	0.0049	0.0048	0.0120	0.0045	0.0044	0.0095	0.0086	0.0009	0	0.0047	0.0049	0	0.0024	0.0034	0.0075	0.0061	0.0120	0.078	0.41364	T	0.172	0.30241	T	0.992	0.64738	D	0.981	0.75168	D	0.100541	0.19882	N	0.443981	0.928755	0.28855	N	2.3	0.65703	M	3.63	0.11189	T	-1.19	0.48184	N	0.255	0.35620	-1.0849	0.06426	T	0.038	0.16333	T	10	0.005440235	0.00120	T	.	.	.	0.071	0.20720	.	.	0.312529679308	0.30857	0.11211295233820184	0.11140	0.279315344121	0.30423	0.349700629711	0.17878	T	0.252361	0.62274	T	-0.487052	0.00674	T	-0.461362	0.26450	T	0.0203654917493927	0.00736	T	0.829717	0.49530	T	0.07854128	0.17891	0.12804876	0.30812	0.07854128	0.17891	0.12804876	0.30812	-4.526	0.31227	T	.	.	0.128	0.27403	B	.;.;.;.;.	.;.;.;.;.	3.245978	0.44328	21.9	0.99689671145336156	0.79842	0.66100	0.32961	D	AEFDBI	0.304585	0.41224	N	0.229170947818217	0.52616	3.434786	0.161070637973126	0.47730	2.999014	0.912351589583928	0.26393	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	1.57	0.22490	1.029000	0.29747	4.432000	0.43354	-0.095000	0.16041	0.973000	0.34540	0.999000	0.35428	0.989000	0.64315	0.5007:0.337:0.0:0.1622	5.866	0.18024	17	0.98681	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.012085	0.000000	0.006793	0.008772	0.000000	0.000000	0.021341	0.026515	0.07895	3941.79	33	chr15	43477653	.	A	G	3941.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.26;DP=852;ExcessHet=0.3672;FS=0.875;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.119;SOR=0.769	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1353,0,1173	16	0	3	0
chr15	43775832	43775832	C	T	exonic	ELL3	.	nonsynonymous SNV	ELL3:NM_025165:exon4:c.G373A:p.V125I	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00468049856844	0.0003	0.000798722	0.0006	9.615e-05	0	0	0	0.0007	0	0.0015	0.000511	79	154602	rs142769297	0.0004	0.0004	0.0004	0.0004	0.0011	0.0003	0.0003	0.0010	0.0009	0	2.236e-05	0	0	3.744e-05	0.0007	0.0004	0.0003	0.0011	0.0003	0.0003	0.0003	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	4.811e-05	0	0	0	0	0	0.0034	0.0005	0	0.0017	0.186	0.32296	T	0.448	0.13030	T	0.0	0.02946	B	0.003	0.08700	B	0.132505	0.02820	N	1.836280	1	0.08975	N	0.695	0.17993	N	1.56	0.29602	T	-0.17	0.10308	N	0.142	0.14196	-1.0285	0.20940	T	0.071	0.28773	T	10	0.007483721	0.00170	T	0.00468	0.11628	T	0.070	0.20419	.	.	0.246773566709	0.24272	0.09446491722933507	0.09378	0.152658950444	0.17223	0.290046334267	0.08929	T	0.003828	0.03242	T	-0.567953	0.00228	T	-0.629135	0.10480	T	0.00336515507660806	0.00035	T	0.572443	0.20452	T	0.043489713	0.06788	0.049590144	0.07611	0.043489713	0.06788	0.049590144	0.07610	-3.886	0.22092	T	.	.	0.082	0.15698	B	.;.	.;.	1.891221	0.24020	16.24	0.88348388297384162	0.17906	0.05121	0.10926	N	AEFDGBHCI	0.053963	0.09771	N	-0.735092492738481	0.15041	0.7545473	-0.735057195907876	0.16091	0.8495228	0.999999802269956	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.664235	0.64389	0	.	.	5.67	1.23	0.20358	0.804000	0.26758	0.626000	0.20179	0.599000	0.40250	0.043000	0.21118	0.940000	0.28757	0.854000	0.40426	0.0:0.5521:0.282:0.1659	7.149	0.24776	6	0.99319	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2346.33	33	chr15	43775832	.	C	T	2346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=846;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.037;SOR=0.729	GT:AD:DP:GQ:PL	0/1:90,87:177:99:2360,0,2497	18	0	1	0
chr15	44337893	44337893	T	C	exonic	GOLM2	.	nonsynonymous SNV	GOLM2:NM_138423:exon5:c.T707C:p.I236T,GOLM2:NM_177974:exon5:c.T707C:p.I236T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0398281048044	.	0.000399361	0.0003	0	0	0	0	0	0	0.0025	0.0002846	44	154602	rs544189564	0.0001	0.0001	7.859e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0	0	8.38e-05	0.0023	0.0002	0.0002	8.992e-05	0.0002	0.0046	0.0001	8.711e-05	0.0031	0.0026	0	0	0	0	0	0	0	1.47e-05	0	0.0046	0.29	0.33254	T	0.407	0.26467	T	0.372	0.34134	B	0.114	0.31755	B	0.384717	0.13340	N	0.743996	1	0.81001	D	2.005	0.54552	M	-1.77	0.83660	D	-1.35	0.34198	N	0.207	0.27197	-0.7893	0.55770	T	0.320	0.68952	T	10	0.006650001	0.00151	T	0.039828	0.59031	D	0.144	0.38394	0.267	0.21418	0.660773096359	0.65793	0.06442870739589655	0.06381	0.752499304445	0.63842	0.464911669493	0.33982	T	.	.	.	-0.318983	0.06981	T	-0.236211	0.51169	T	0.0638012650819539	0.07753	T	0.874313	0.58483	D	.	.	.	.	.	.	.	.	-4.532	0.31305	T	.	.	0.118	0.33412	B	.;.;.	.;.;.	1.728102	0.21993	15.44	0.95865611001896589	0.28033	0.67932	0.33613	D	AEFBI	0.146715	0.27023	N	-0.326111450973241	0.28158	1.550903	-0.192834205785835	0.31798	1.802997	0.161238498428531	0.17596	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.22	2.98	0.33575	1.027000	0.29721	0.726000	0.21050	0.661000	0.55757	0.998000	0.41325	0.003000	0.18671	1.000000	0.97212	0.0:0.0906:0.1964:0.713	5.795	0.17647	162	0.93704	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1496.33	36	chr15	44337893	.	T	C	1496.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.221;DP=744;ExcessHet=0;FS=1.482;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.42;SOR=0.537	GT:AD:DP:GQ:PL	0/1:63,59:122:99:1510,0,1682	18	0	1	0
chr15	55672580	55672580	C	G	exonic	PRTG	.	nonsynonymous SNV	PRTG:NM_173814:exon11:c.G1906C:p.V636L	.	437	1080	5	0	0	5	0.00230947	.	.	.	703259	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0075	0.00239617	0.0072	0.0017	0.0056	0.0001	0.0148	0.0097	0.0078	0.0022	0.0068175	1054	154602	rs149494002	0.0087	0.0087	0.0088	0.0085	0.0098	0.0085	0.0085	0.0096	0.0096	0.0016	0.0043	0.0004	5.039e-05	0.0143	0.0014	0.0098	0.0082	0.0027	0.0062	0.0062	0.0064	0.0060	0.0095	0.0059	0.0057	0.0089	0.0087	0.0018	0	0.0033	0.0006	0	0.0135	0.0068	0.0095	0.0038	0.0023	0.113	0.28772	T	0.276	0.22359	T	0.071	0.23930	B	0.038	0.23361	B	0.002061	0.37364	N	0.232951	0.999854	0.49910	D	1.82	0.47800	L	1.96	0.22270	T	-1.6	0.46842	N	0.587	0.60749	-1.1330	0.01644	T	0.040	0.17277	T	10	0.006695509	0.00152	T	.	.	.	0.085	0.24743	0.507	0.60232	0.342631996419	0.33872	0.6183329705583821	0.61766	0.160112996357	0.18061	0.612492501736	0.54668	T	0.065569	0.32721	T	-0.337909	0.05535	T	-0.251053	0.49714	T	0.00679731370280906	0.00077	T	0.869313	0.57326	D	0.1595642	0.35837	0.17360745	0.39699	0.1595642	0.35836	0.17360745	0.39698	-7.412	0.56989	T	.	.	0.341	0.55978	A	.;.	.;.	3.719838	0.53147	23.3	0.99247667342241963	0.56759	0.98198	0.80457	D	AEFBI	0.650962	0.62488	D	0.0629097893960828	0.44739	2.742448	0.232147999281446	0.51640	3.344773	0.997794014938111	0.36039	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.62	5.62	0.85714	4.661000	0.61213	7.659000	0.64126	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:1.0:0.0:0.0	18.678	0.91497	596	0.68392	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1185.33	33	chr15	55672580	.	C	G	1185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.831;DP=724;ExcessHet=0;FS=4.323;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.372;SOR=1.244	GT:AD:DP:GQ:PL	0/1:43,45:88:99:1199,0,1144	18	0	1	0
chr15	65099704	65099704	G	C	exonic	UBAP1L	.	nonsynonymous SNV	UBAP1L:NM_001163692:exon4:c.C710G:p.P237R	.	435	1084	3	0	0	3	0.00138185	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.0524383170564	.	0.000199681	0.0002	0	0	0	0	0	0	0.0005	3.23e-05	5	154602	rs545763415	0.0002	0.0001	0.0001	0.0002	0.0011	0.0001	0.0001	0.0006	0.0005	0	0.0004	0	0	0	0.0011	9.938e-05	0.0004	0.0007	9.189e-05	9.186e-05	6.423e-05	0.0001	0.0004	5.522e-05	4.36e-05	8.868e-05	5.28e-05	0	0	0.0003	0	0	0	0.0034	8.82e-05	0.0005	0.0004	0.003	0.68238	D	0.014	0.62352	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.996461	0.43220	D	1.1	0.28011	L	.	.	.	-3.19	0.64593	D	0.366	0.40765	-0.4623	0.69990	T	0.229	0.59484	T	8	0.08630091	0.14656	T	0.052438	0.65069	D	0.421	0.73005	0.4	0.42917	0.104622674875	0.10061	0.720867837922526	0.72029	.	.	0.655838549137	0.60815	T	0.134789	0.46623	T	-0.162344	0.26399	T	-0.0564132	0.66582	D	0.145081106190048	0.16705	T	0.674733	0.28305	T	0.54417783	0.69631	0.7200041	0.83469	0.54417783	0.69632	0.7200041	0.83470	-5.127	0.38190	T	.	.	0.194	0.41387	B	.;.	.;.	3.974872	0.58395	24.0	0.99825351936037121	0.90764	0.98933	0.88820	D	AEFBI	0.647517	0.62266	D	0.496231636163396	0.66870	5.00636	0.542592058594019	0.70882	5.571262	0.999999974728385	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.573078	0.19857	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	4.000000	0.56751	3.712000	0.39559	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.738	0.91729	392	0.83172	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2415.33	34	chr15	65099704	.	G	C	2415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.227;DP=852;ExcessHet=0;FS=1.015;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=0.047;SOR=0.782	GT:AD:DP:GQ:PL	0/1:122,108:230:99:2429,0,2905	18	0	1	0
chr15	65205386	65205386	C	T	exonic	CILP	.	nonsynonymous SNV	CILP:NM_003613:exon5:c.G505A:p.G169R	.	.	.	.	.	.	.	.	.	.	.	2470085	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.800	0.082187205235	.	.	0.0001	0	0	0	0	0	0	0.0010	0.0001035	16	154602	rs764337893	4.036e-05	4.036e-05	2.859e-05	5.225e-05	0.0006	3.179e-05	2.911e-05	0.0005	0.0004	0	0	0	0	0	0	1.799e-06	0.0001	0.0006	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	0.07	0.35349	T	0.002	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	0.000004	0.62929	D	0.105015	0.999999	0.58761	D	4.145	0.97549	H	-1.75	0.83495	D	-3.69	0.70432	D	0.837	0.83269	0.720	0.93421	D	0.792	0.92934	D	10	0.9195242	0.91308	D	0.082187	0.73847	D	0.800	0.93464	0.914	0.98346	0.841097536971	0.83958	0.8243153392826222	0.82389	0.604454540388	0.55382	0.59434902668	0.52107	T	0.269295	0.64148	T	0.061983	0.59861	T	0.25991	0.86087	D	0.946431994438171	0.62469	D	0.928907	0.73860	D	0.36949134	0.58547	0.356614	0.61170	0.36949134	0.58548	0.356614	0.61169	-8.969	0.67497	D	.	.	0.377	0.58239	A	.	.	4.409856	0.68213	25.2	0.99944411500199648	0.99868	0.99490	0.96665	D	AEFDBI	0.914375	0.87764	D	0.951543489205253	0.94047	12.46252	0.88667826289045	0.94965	13.19347	0.999999999981192	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.56	5.56	0.83678	7.297000	0.78143	5.921000	0.51166	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	18.524	0.90915	649	0.63102	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2834.33	34	chr15	65205386	.	C	T	2834.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.041;DP=887;ExcessHet=0;FS=0.537;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.689;SOR=0.769	GT:AD:DP:GQ:PL	0/1:82,108:190:99:2848,0,2049	18	0	1	0
chr15	65650424	65650424	G	A	exonic	SLC24A1	.	nonsynonymous SNV	SLC24A1:NM_001254740:exon4:c.G256A:p.E86K,SLC24A1:NM_001301032:exon5:c.G2221A:p.E741K,SLC24A1:NM_001301031:exon6:c.G2275A:p.E759K,SLC24A1:NM_004727:exon7:c.G2275A:p.E759K,SLC24A1:NM_001301033:exon8:c.G2221A:p.E741K	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1032093	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.0288990329304	0.0003	0.000599042	9.748e-05	0.0009	0	0	0	0	0	0	3.23e-05	5	154602	rs375749809	5.645e-05	5.404e-05	5.922e-05	5.361e-05	0.0020	4.607e-05	4.264e-05	0.0016	0.0015	0.0020	0.0001	0	0	0	0	3.707e-06	0.0001	1.262e-05	0.0005	0.0005	0.0006	0.0004	0.0018	0.0004	0.0004	0.0015	0.0013	0.0018	0	0.0001	0	0	0	0	1.47e-05	0.0005	0	0.138	0.25873	T	0.76	0.21947	T	0.086	0.24919	B	0.013	0.16460	B	0.048904	0.01991	N	2.872330	1	0.08975	N	1.905	0.50856	L	0.08	0.66294	T	-0.96	0.28084	N	0.113	0.18649	-1.0174	0.24560	T	0.193	0.54652	T	10	0.00935787	0.00211	T	0.028899	0.51501	D	0.047	0.12962	.	.	0.540606920606	0.53712	0.3864187661962858	0.38556	0.254390484647	0.28010	0.251201152802	0.03896	T	0.013598	0.52061	T	-0.440363	0.01287	T	-0.429955	0.29940	T	0.018499542131433	0.00566	T	0.523548	0.17131	T	0.02829637	0.02147	0.037975453	0.03565	0.02829637	0.02146	0.037975453	0.03565	-4.085	0.25599	T	.	.	0.064	0.02200	B	.;.;.;.;.;.	.;.;.;.;.;.	1.062579	0.14442	11.02	0.99484625233434154	0.67069	0.08321	0.14265	N	AEFBCI	0.047752	0.08076	N	-0.921242196422202	0.10346	0.4939573	-0.947300371596365	0.10985	0.5568893	0.98300823784069	0.30489	0.729952	0.87565	0	0.585951	0.33947	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	3.74	0.768	0.17633	0.648000	0.24515	0.317000	0.17144	0.645000	0.52629	0.000000	0.06391	0.000000	0.08366	0.058000	0.15825	0.3177:0.0:0.6823:0.0	7.195	0.25026	725	0.54935	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1254.33	34	chr15	65650424	.	G	A	1254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.73;DP=729;ExcessHet=0;FS=2.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.365;SOR=0.458	GT:AD:DP:GQ:PL	0/1:58,48:106:99:1268,0,1328	18	0	1	0
chr15	65897956	65897956	G	A	exonic	MEGF11	.	nonsynonymous SNV	MEGF11:NM_001385030:exon21:c.C2888T:p.P963L,MEGF11:NM_001385031:exon22:c.C2873T:p.P958L,MEGF11:NM_032445:exon23:c.C3113T:p.P1038L,MEGF11:NM_001385028:exon26:c.C3401T:p.P1134L	.	431	1090	1	0	0	1	0.000458505	.	.	.	2337077	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.493	0.0529422063265	.	0.000199681	0.0002	0	0	0	0	4.501e-05	0.0011	0.0013	0.0001811	28	154602	rs370404367	0.0001	0.0001	8.441e-05	0.0002	0.0015	0.0001	0.0001	0.0013	0.0012	2.988e-05	8.946e-05	0	0	1.873e-05	0.0003	1.889e-05	0.0003	0.0015	0.0001	0.0001	7.708e-05	0.0001	0.0017	7.085e-05	5.743e-05	0.0008	0.0006	0	0	6.536e-05	0	0	9.418e-05	0.0034	8.819e-05	0	0.0017	0.062	0.36912	T	0.007	0.70582	D	0.918	0.53992	P	0.223	0.44364	B	0.002357	0.36727	U	0.000000	1	0.81001	D	0.625	0.15840	N	-2.91	0.91696	D	-3.44	0.67477	D	0.191	0.32591	0.542	0.91124	D	0.709	0.89991	D	10	0.029892027	0.01115	T	0.052942	0.65273	D	0.493	0.77910	.	.	0.638638447811	0.63566	0.27459716763422415	0.27372	0.0948372849257	0.10714	0.406794726849	0.26013	T	0.146285	0.48382	T	-0.108237	0.35061	T	0.0471206	0.73395	D	0.0999747249024338	0.12354	T	0.819918	0.47811	T	0.18492691	0.39831	0.30436033	0.56465	0.18492691	0.39831	0.30436033	0.56465	-2.984	0.13404	T	.	.	0.066	0.05935	B	.;.;.;.	.;.;.;.	3.175111	0.43079	21.7	0.90239428944356315	0.19511	0.98939	0.88905	D	AEFBI	0.371984	0.45780	N	0.274875354194386	0.54879	3.652	0.274511353168426	0.54056	3.571759	0.999999999983708	0.74766	0.405899	0.06291	1	0.446627	0.06534	0	0.486962	0.07600	0	0.714379	0.83352	0	.	.	5.23	5.23	0.72570	5.520000	0.66794	4.596000	0.43977	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.059000	0.15899	0.0:0.0:1.0:0.0	19.011	0.92850	193	0.92507	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1509.33	35	chr15	65897956	.	G	A	1509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=722;ExcessHet=0;FS=2.684;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-1.918;SOR=1.022	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1523,0,1057	18	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R,DIS3L:NM_001323940:exon11:c.C987G:p.S329R,DIS3L:NM_001323943:exon11:c.C987G:p.S329R,DIS3L:NM_001323948:exon11:c.C1917G:p.S639R,DIS3L:NM_001143688:exon12:c.C2097G:p.S699R,DIS3L:NM_001323936:exon12:c.C1848G:p.S616R,DIS3L:NM_001323938:exon12:c.C1695G:p.S565R,DIS3L:NM_001323941:exon12:c.C1695G:p.S565R,DIS3L:NM_001323944:exon12:c.C2046G:p.S682R,DIS3L:NM_001323945:exon12:c.C1848G:p.S616R,DIS3L:NM_001323946:exon12:c.C1695G:p.S565R,DIS3L:NM_133375:exon12:c.C1848G:p.S616R,DIS3L:NM_001323939:exon13:c.C1695G:p.S565R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	465.41	41	chr15	66326260	.	C	G	465.41	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-4.097;DP=1369;ExcessHet=2.0135;FS=270.804;InbreedingCoeff=-0.1865;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=0.58;SOR=10.26	GT:AD:DP:GQ:PL	0/1:69,26:95:99:133,0,1566	13	0	6	0
chr15	71854503	71854503	T	A	exonic	MYO9A	.	nonsynonymous SNV	MYO9A:NM_006901:exon35:c.A6220T:p.T2074S	.	427	1093	2	0	0	2	0.000914077	.	.	.	2227157	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00520093620515	.	0.000199681	6.597e-05	0	0	0	0	0.0001	0	6.074e-05	5.82e-05	9	154602	rs200455358	3.695e-05	3.694e-05	2.859e-05	4.54e-05	0.0002	2.895e-05	2.593e-05	0.0001	0.0001	0	0	0	0	1.872e-05	0.0002	2.609e-05	9.937e-05	0.0002	3.283e-05	3.281e-05	3.854e-05	2.685e-05	0.0002	1.26e-05	7.97e-06	1.972e-05	1.125e-05	0	0	0	0	0.0002	0	0	5.881e-05	0	0	0.695	0.46513	T	1.0	0.01155	T	0.005	0.12996	B	0.005	0.11217	B	.	.	.	.	0.999333	0.21346	N	-0.885	0.01428	N	1.0	0.41392	T	0.31	0.69835	N	0.335	0.40164	-0.9818	0.34585	T	0.030	0.12979	T	9	0.051948816	0.05154	T	0.005201	0.13248	T	0.060	0.17295	0.126	0.03173	0.0675242888579	0.06100	0.42876365057233934	0.42793	0.108442563797	0.12232	0.525323390961	0.42375	T	0.007485	0.08919	T	-0.373205	0.03435	T	-0.537191	0.18574	T	0.029012182699616	0.01839	T	0.827917	0.49964	T	0.03507761	0.04059	0.044138495	0.05652	0.03507761	0.04059	0.044138495	0.05651	-5.828	0.44818	T	.	.	0.102	0.18122	B	.;.;.	.;.;.	2.339272	0.29980	18.29	0.95807610021551481	0.27875	0.87753	0.47400	D	AEFBI	0.215742	0.34106	N	-0.676446208894382	0.16694	0.852798	-0.401322839227871	0.24958	1.369744	0.35040289675702	0.19676	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.99	3.68	0.41359	1.598000	0.36351	3.458000	0.38494	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.253:0.1465:0.6006	5.025	0.13721	916	0.20744	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2008.33	33	chr15	71854503	.	T	A	2008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.668;DP=761;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-0.061;SOR=0.591	GT:AD:DP:GQ:PL	0/1:59,75:134:99:2022,0,1532	18	0	1	0
chr15	73283089	73283089	C	T	exonic	NEO1	.	nonsynonymous SNV	NEO1:NM_001172624:exon22:c.C3355T:p.R1119C,NEO1:NM_001172623:exon23:c.C3388T:p.R1130C,NEO1:NM_002499:exon23:c.C3388T:p.R1130C	.	422	1086	13	1	0	15	0.00685871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.495	.	0.0012	0.0117812	0.0058	0.0008	0.0027	0.0425	0.0080	0.0029	0.0099	0.0022	0.0054527	843	154602	rs118087147	0.0038	0.0038	0.0038	0.0038	0.0447	0.0037	0.0037	0.0430	0.0423	0.0007	0.0036	0.0058	0.0447	0.0084	0.0172	0.0020	0.0074	0.0027	0.0048	0.0048	0.0043	0.0052	0.0492	0.0045	0.0044	0.0443	0.0424	0.0013	0	0.0057	0.0046	0.0492	0.0109	0.0136	0.0025	0.0071	0.0023	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	2.095	0.58118	M	0.1	0.63077	T	-5.73	0.89334	D	0.783	0.83781	-0.6548	0.62504	T	0.093	0.35283	T	10	0.007161528	0.00163	T	.	.	.	0.495	0.78036	.	.	0.589392501938	0.58614	0.5518740546356979	0.55113	0.865989731613	0.69205	0.706761300564	0.68123	T	0.760	0.93477	D	-0.037222	0.46360	T	0.205173	0.83407	D	0.0469657027440284	0.04958	T	0.990763	0.97171	D	0.71883744	0.79097	0.53594667	0.73184	0.71883744	0.79098	0.53594667	0.73185	-11.548	0.83197	D	.	.	0.478	0.69452	A	.;.;.;.;.	.;.;.;.;.	4.829910	0.78746	27.0	0.99942508714113965	0.99824	0.94842	0.62518	D	AEFBHCI	0.934120	0.92702	D	0.742588192925991	0.82422	7.758413	0.73252353166188	0.84845	8.407764	0.999999999999965	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.3	5.3	0.74745	7.304000	0.78201	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.836000	0.39433	0.0:1.0:0.0:0.0	19.333	0.94287	680	0.59965	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.008152	0.023392	0.000000	0.008621	0.012195	0.011364	0.05263	2570.83	33	chr15	73283089	.	C	T	2570.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.477;DP=801;ExcessHet=0.119;FS=9.201;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.976;SOR=0.311	GT:AD:DP:GQ:PL	0/1:50,66:116:99:1734,0,1271	17	0	2	0
chr15	77028588	77028588	C	T	exonic	PSTPIP1	.	nonsynonymous SNV	PSTPIP1:NM_001321135:exon7:c.C452T:p.A151V,PSTPIP1:NM_003978:exon7:c.C452T:p.A151V,PSTPIP1:NM_001321136:exon8:c.C425T:p.A142V,PSTPIP1:NM_001321137:exon8:c.C647T:p.A216V	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.08172586687	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160921792	2.068e-06	6.84e-06	1.37e-06	2.775e-06	3.01e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	3.01e-05	0	0	0	0	0	1.806e-06	0	0	6.569e-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	0.015	0.52492	D	0.203	0.30729	T	0.61	0.58077	P	0.094	0.53472	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.195	0.61839	M	0.89	0.45636	T	-2.56	0.56466	D	0.617	0.64478	-0.6654	0.62036	T	0.229	0.59396	T	10	0.35706598	0.52430	T	0.081726	0.73746	D	0.153	0.40148	0.315	0.29096	0.716668160974	0.71417	0.26308345359807245	0.26221	0.22842857525	0.25396	0.600405037403	0.52962	T	0.419575	0.77156	T	0.0264784	0.55251	T	-0.199742	0.54670	T	0.965860545635223	0.67401	D	0.965003	0.87464	D	0.35934258	0.57785	0.2394142	0.49290	0.35934258	0.57785	0.2394142	0.49289	-9.855	0.73039	D	0.2970045073017214	0.39408	0.173	0.41977	B	.;.;.;.;.;.	.;.;.;.;.;.	3.708698	0.52937	23.3	0.99478438603534414	0.66741	0.78293	0.38605	D	AEFDBCI	0.489956	0.52764	N	0.206008526519568	0.51488	3.329803	0.143047664753767	0.46775	2.918029	0.99999999998776	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.55	4.55	0.55429	4.314000	0.58957	6.002000	0.52504	0.587000	0.30956	0.997000	0.40164	0.994000	0.32194	0.180000	0.21296	0.0:1.0:0.0:0.0	16.097	0.80943	294	0.88270	F-BAR domain;F-BAR domain;F-BAR domain;.;F-BAR domain;F-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	751.33	34	chr15	77028588	.	C	T	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.734;DP=713;ExcessHet=0;FS=4.159;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=0.17;SOR=0.814	GT:AD:DP:GQ:PL	0/1:53,34:87:99:765,0,1223	18	0	1	0
chr15	78533483	78533483	G	T	exonic	HYKK	.	nonsynonymous SNV	HYKK:NM_001013619:exon5:c.G935T:p.R312L	.	434	1069	18	1	0	20	0.00926784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.765	.	0.0017	0.00259585	0.0024	0.0004	0.0006	0	0	0.0021	0.0022	0.0084	0.0023415	362	154602	rs61741253	0.0026	0.0026	0.0024	0.0027	0.0094	0.0025	0.0025	0.0089	0.0087	0.0003	0.0006	0.0002	0	0.0003	0.0057	0.0023	0.0035	0.0094	0.0017	0.0017	0.0017	0.0017	0.0089	0.0015	0.0014	0.0068	0.0061	0.0003	0	0.0009	0	0	0	0.0102	0.0026	0.0014	0.0089	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.35	0.91085	M	1.23	0.36872	T	-6.71	0.92518	D	0.96	0.96984	-0.3853	0.72488	T	0.307	0.67740	T	10	0.03451255	0.01662	T	.	.	.	0.765	0.92046	.	.	0.576212830723	0.57290	0.9002999689353005	0.90001	0.723265305388	0.62325	0.551575660706	0.46080	T	0.237048	0.60465	T	-0.0212141	0.48680	T	0.202724	0.83277	D	0.0967655910588514	0.11996	T	0.935506	0.75876	D	0.8207389	0.85269	0.87283623	0.93062	0.8207389	0.85271	0.87283623	0.93063	-13.303	0.90572	D	.	.	0.959	0.87972	P	.;.	.;.	5.451587	0.91058	32	0.99864954536169337	0.94276	0.99802	0.99565	D	AEFI	0.872013	0.79367	D	0.887935205200239	0.91157	10.74289	0.809571322358056	0.90453	10.41331	0.999999999981466	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.85	5.85	0.93663	9.341000	0.96446	11.593000	0.93419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.158	0.98120	814	0.42100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1475.33	37	chr15	78533483	.	G	T	1475.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=828;ExcessHet=0;FS=3.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.849;SOR=0.451	GT:AD:DP:GQ:PL	0/1:61,54:115:99:1489,0,1489	18	0	1	0
chr15	78776778	78776778	C	T	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon10:c.G1531A:p.V511M	.	404	1103	15	0	0	15	0.00675371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0048	0.0011	0.0024	0	0	0.0050	0.0101	0.0062	0.0010479	162	154602	rs146326084	0.0031	0.0093	0.0030	0.0031	0.0068	0.0030	0.0030	0.0051	0.0045	0.0004	0.0014	0.0002	0	0.0002	0.0068	0.0036	0.0026	0.0026	0.0010	0.0055	0.0010	0.0010	0.0017	0.0009	0.0008	0.0013	0.0012	0.0002	0	0.0017	0.0003	0	0.0006	0.0035	0.0015	0.0010	0.0017	0.03	0.45393	D	0.035	0.52389	D	1.0	0.90584	D	0.996	0.84481	D	0.000002	0.62929	D	0.000000	0.999984	0.54805	D	.	.	.	0.16	0.60610	T	-2.24	0.50175	N	0.368	0.40963	-0.4123	0.71636	T	0.311	0.68112	T	10	0.024242163	0.00660	T	.	.	.	0.197	0.47942	.	.	0.77308684516	0.77100	0.5804270689733002	0.57971	0.749224044332	0.63684	0.658837497234	0.61242	T	0.022508	0.17341	T	0.0405265	0.57114	T	-0.179563	0.56563	T	0.544937610626221	0.34288	D	0.940706	0.77799	D	0.1005538	0.23745	0.15226209	0.35831	0.1005538	0.23744	0.15226209	0.35830	-8.343	0.63384	D	.	.	0.271	0.50509	B	.	.	4.508606	0.70581	25.5	0.99908254673372687	0.97801	0.96474	0.69319	D	AEFBI	0.650980	0.62489	D	0.534252785431371	0.69131	5.31345	0.480624850693116	0.66706	4.987275	0.999999161379799	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.09	4.09	0.47038	7.482000	0.80187	5.790000	0.49863	0.518000	0.23583	1.000000	0.71638	1.000000	0.68203	0.744000	0.35576	0.0:1.0:0.0:0.0	15.061	0.71618	496	0.76301	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003712	0.000000	0.005731	0.000000	0.000000	0.000000	0.006494	0.003788	0.02632	278.33	33	chr15	78776778	.	C	T	278.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.277;DP=862;ExcessHet=0;FS=8.559;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.96;MQRankSum=-11.11;QD=1.49;ReadPosRankSum=1.96;SOR=0.78	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,19:187:99:0|1:78776778_C_T:292,0,6953:78776778	18	0	1	0
chr15	78776843	78776843	T	C	splicing	ADAMTS7	NM_014272:exon10:c.1468-2A>G	.	.	.	390	1119	13	0	0	13	0.00577521	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.999e-05	0.0004	0	0	0	0	0	0	3.23e-05	5	154602	rs761832715	0.0006	0.0038	0.0005	0.0006	0.0018	0.0005	0.0005	0.0016	0.0015	0.0002	0.0006	0.0001	0.0006	0.0002	0.0018	0.0005	0.0007	0.0018	0.0006	0.0041	0.0006	0.0006	0.0009	0.0005	0.0005	0.0007	0.0006	0.0003	0	0.0009	0	0.0004	0	0	0.0009	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12313	0.66684	D	-0.0609084	0.66268	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.618340	0.73312	26.0	0.99143664291259825	0.53600	0.96440	0.69150	D	AEFBI	.	.	.	0.821604702649219	0.87435	9.217823	0.583033767872228	0.73725	6.017524	0.999366450694202	0.39301	0.262962	0.04601	0	0.084543	0.02171	0	0.292756	0.05521	0	0.24341	0.04801	0	0.877846	0.54522	3.85	3.85	0.43556	7.587000	0.81895	5.989000	0.52298	0.574000	0.29054	1.000000	0.71638	1.000000	0.68203	0.230000	0.22734	0.0:0.0:0.0:1.0	11.631	0.50434	496	0.76301	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	130.33	41	chr15	78776843	.	T	C	130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.896;DP=883;ExcessHet=0;FS=12.332;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.84;MQRankSum=-6.026;QD=1.37;ReadPosRankSum=-1.086;SOR=0.075	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,10:95:99:0|1:78776843_T_C:144,0,3398:78776843	18	0	1	0
chr15	78788282	78788282	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon8:c.C1271T:p.A424V	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0066	0.00439297	0.0018	0.0196	0.0008	0	0	1.499e-05	0	0.0001	0.0016235	251	154602	rs61748712	0.0007	0.0007	0.0007	0.0006	0.0240	0.0006	0.0006	0.0226	0.0221	0.0240	0.0008	0	0	0	0.0004	9.892e-06	0.0016	4.638e-05	0.0057	0.0057	0.0059	0.0055	0.0198	0.0054	0.0053	0.0187	0.0183	0.0198	0	0.0019	0	0	0	0	4.41e-05	0.0047	0.0006	0.162	0.23541	T	0.046	0.49120	D	0.019	0.17989	B	0.037	0.23121	B	0.042406	0.23845	N	0.444329	1	0.08975	N	0.55	0.14455	N	3.86	0.03624	T	-1.38	0.34198	N	0.052	0.02366	-1.0165	0.24852	T	0.029	0.12453	T	10	0.0051740706	0.00112	T	.	.	.	0.052	0.14661	.	.	0.321393169273	0.31749	0.419123224125266	0.41828	0.195307517549	0.21866	0.325715512037	0.14286	T	0.005766	0.05219	T	-0.698668	0.00037	T	-0.760108	0.03108	T	0.00718311943112658	0.00082	T	0.723528	0.33695	T	0.027940864	0.02059	0.030980352	0.01624	0.027940864	0.02058	0.030980352	0.01624	-4.688	0.33258	T	.	.	0.077	0.06571	B	.	.	0.647878	0.10163	6.906	0.99012097106608121	0.50377	0.17708	0.19953	N	AEFGBCI	0.096116	0.19408	N	-0.964733360448169	0.09364	0.4429037	-0.933402838018603	0.11309	0.5753419	0.0931295004993475	0.16175	0.743674	0.98306	0	0.588066	0.40923	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.37	-0.219	0.12488	1.170000	0.31493	0.323000	0.17205	-0.185000	0.09859	0.001000	0.13787	0.000000	0.08366	0.201000	0.21925	0.3559:0.1359:0.5082:0.0	5.374	0.15454	496	0.76301	Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	956.33	33	chr15	78788282	.	G	A	956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.736;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.158;SOR=0.706	GT:AD:DP:GQ:PL	0/1:44,38:82:99:970,0,1107	18	0	1	0
chr15	81299992	81299992	G	A	exonic	IL16	.	nonsynonymous SNV	IL16:NM_004513:exon2:c.G563A:p.R188Q,IL16:NM_001172128:exon14:c.G2666A:p.R889Q,IL16:NM_001352686:exon14:c.G2819A:p.R940Q,IL16:NM_172217:exon14:c.G2666A:p.R889Q,IL16:NM_001352684:exon15:c.G836A:p.R279Q,IL16:NM_001352685:exon15:c.G2156A:p.R719Q	.	.	.	.	.	.	.	.	.	.	.	714646	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0079	0.00738818	0.0024	0.0268	0.0010	0	0	0	0	0	0.0021733	336	154602	rs17875512	0.0007	0.0007	0.0008	0.0006	0.0263	0.0007	0.0007	0.0249	0.0243	0.0263	0.0012	0	5.058e-05	0	0	2.085e-05	0.0011	5.945e-05	0.0071	0.0071	0.0074	0.0068	0.0251	0.0067	0.0066	0.0238	0.0233	0.0251	0	0.0016	0	0.0002	0	0	4.411e-05	0.0043	0	0.851	0.03441	T	0.69	0.05939	T	0.01	0.17786	B	0.005	0.11217	B	0.931638	0.08417	N	0.955931	1	0.08975	N	0.57	0.15267	N	3.01	0.09075	T	0.36	0.07299	N	0.037	0.02272	-0.9338	0.43575	T	0.005	0.01797	T	10	0.0029067397	0.00047	T	.	.	.	0.021	0.04004	.	.	0.0297737177859	0.01360	0.13561508173948988	0.13485	0.125427775553	0.14139	0.222683817148	0.01470	T	0.085034	0.37411	T	-0.675378	0.00051	T	-0.723313	0.04637	T	0.00515059042254766	0.00056	T	0.756024	0.37907	T	0.02291157	0.00988	0.037191633	0.03321	0.02291157	0.00988	0.037191633	0.03321	-3.719	0.19599	T	.	.	0.068	0.04041	B	.;.;.	.;.;.	-0.727714	0.01257	0.065	0.80264653686563059	0.13121	0.01435	0.04825	N	AEFGBHCI	0.051139	0.09005	N	-1.4606899963958	0.02134	0.09390787	-1.50783926441269	0.02283	0.1047688	0.999999679529881	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.53	-3.93	0.03868	-0.823000	0.04550	-6.259000	0.01449	-0.693000	0.04107	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7613:0.0:0.2387:0.0	13.125	0.58763	812	0.42537	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.005051	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2401.33	33	chr15	81299992	.	G	A	2401.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.074;DP=916;ExcessHet=0;FS=6.407;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.479;SOR=0.375	GT:AD:DP:GQ:PL	0/1:86,93:179:99:2415,0,2190	18	0	1	0
chr15	82344942	82344942	T	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1896.3	11	chr15	82344942	.	T	*	1896.3	.	AC=7;AF=0.35;AN=20;BaseQRankSum=2.09;DP=1700;ExcessHet=5.6323;FS=13.88;InbreedingCoeff=-0.3369;MLEAC=9;MLEAF=0.45;MQ=46.72;MQRankSum=0;QD=2;ReadPosRankSum=1.28;SOR=1.17	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,0:1:6:1|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACG_A:653,6,0:82344920	4	1	5	9
chr15	82345027	82345110	AGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_833del:p.R286_L313del,GOLGA6L10:NM_001322400:exon6:c.750_833del:p.R251_L278del	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1978.48	111	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	T	1978.48	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.49;DP=2232;ExcessHet=5.6906;FS=1.17;InbreedingCoeff=-0.3098;MLEAC=5;MLEAF=0.132;MQ=41.92;MQRankSum=-2.412;QD=1.77;ReadPosRankSum=0.108;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,9:48:99:.:.:601,478,2775:.	14	0	5	0
chr15	82345047	82345110	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	651	863	6	0	2	8	0.0034642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	106.96	111	chr15	82345047	.	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	106.96	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.357;DP=2483;ExcessHet=13.8672;FS=1.209;InbreedingCoeff=-0.5724;MLEAC=13;MLEAF=0.361;MQ=38.64;MQRankSum=-2.151;QD=0.1;ReadPosRankSum=2.39;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,0:48:99:.:.:236,0,488:.	6	0	12	1
chr15	82345087	82345087	C	0	exonic	GOLGA6L10	.	.	.	.	748	741	8	0	25	33	0.00536913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1637.45	111	chr15	82345087	.	C	*	1637.45	.	AC=10;AF=0.263;AN=38;BaseQRankSum=3.81;DP=2350;ExcessHet=13.8672;FS=0.585;InbreedingCoeff=-0.5406;MLEAC=10;MLEAF=0.263;MQ=41.11;MQRankSum=-2.282;QD=1.5;ReadPosRankSum=-2.685;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,0:48:99:.:.:236,0,488:.	9	0	10	0
chr15	84240189	84240189	C	T	exonic	GOLGA6L4	.	nonsynonymous SNV	GOLGA6L4:NM_001267536:exon6:c.C835T:p.R279C	.	753	753	16	0	0	16	0.0105125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000722496831276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171360296	0.0010	0.0077	0.0011	0.0009	0.0021	0.0009	0.0009	0.0012	0.0011	0.0002	0.0003	0.0006	0.0003	0.0008	0.0021	0.0013	0.0014	0.0002	0.0002	0.0006	0.0002	0.0003	0.0004	0.0002	0.0001	0.0001	0.0001	0.0001	0	0.0004	0.0004	0	0.0007	0	0.0002	0.0006	0	0.1	0.30515	T	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.23639	N	.	.	.	2.4	0.15608	T	-2.26	0.50502	N	0.099	0.08088	-1.0086	0.27354	T	0.036	0.15334	T	6	0.15234295	0.28778	T	7.22E-4	0.00472	T	0.024	0.04979	0.426	0.47185	0.0716867268079	0.06686	0.02407774487081985	0.02358	2.36362769044	0.96864	.	.	.	0.079796	0.36213	T	-0.314989	0.07317	T	-0.690236	0.06375	T	0.0766820126804913	0.09557	T	0.456254	0.13085	T	0.057518452	0.11456	0.05492262	0.09536	0.057518452	0.11456	0.05492262	0.09536	-3.926	0.22693	T	.	.	0.170	0.37445	B	.	.	1.326514	0.17311	13.09	0.57909294928781596	0.05873	0.00472	0.02260	N	AEFI	0.035008	0.04434	N	-0.663721429905769	0.17061	0.8747681	-0.894485716978703	0.12224	0.6275393	6.87443934965625E-6	0.01202	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	0.762	0.762	0.17600	-6.096000	0.00099	-10.050000	0.00745	-1.170000	0.01400	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.972	0.13469	778	0.48011	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1389	847.21	63	chr15	84240189	.	C	T	847.21	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-0.014;DP=851;ExcessHet=1.383;FS=16.586;InbreedingCoeff=-0.1671;MLEAC=5;MLEAF=0.139;MQ=33.66;MQRankSum=0.219;QD=4.48;ReadPosRankSum=-0.05;SOR=1.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,3:41:12:0|1:84240169_A_G:12,0,1573:84240169	13	0	5	1
chr15	84240252	84240252	T	C	exonic	GOLGA6L4	.	nonsynonymous SNV	GOLGA6L4:NM_001267536:exon6:c.T898C:p.C300R	.	780	741	1	0	0	1	0.000674309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000337505882042	.	.	.	.	.	.	.	.	.	.	.	.	.	rs79369013	0.0006	0.0008	0.0003	0.0008	0.0008	0.0005	0.0005	0.0007	0.0006	0.0007	0.0003	0.0003	0.0003	0.0003	0	0.0008	0.0007	8.617e-05	0.0003	0.0004	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0003	0	0.0004	0.0008	0	0	0	0.0002	0	0.0004	0.753	0.03555	T	0.528	0.16717	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.64	0.12780	T	0.63	0.02404	N	0.054	0.05414	-0.9369	0.43103	T	0.013	0.05225	T	6	0.0069882274	0.00159	T	3.38E-4	0.00039	T	0.014	0.01968	.	.	0.0297737177859	0.01360	0.015383870477581954	0.01494	2.79487049805	0.98869	0.589895248413	0.51479	T	0.003949	0.03363	T	-0.308908	0.07845	T	-0.681502	0.06893	T	0.00204312636553798	0.00021	T	0.129687	0.01018	T	0.10251209	0.24224	0.0855762	0.19768	0.10251209	0.24223	0.0855762	0.19767	-2.666	0.07022	T	.	.	0.061	0.01059	B	.;.	.;.	-0.350146	0.02406	0.269	0.17830623154316094	0.00536	0.00032	0.00291	N	AEFI	0.016444	0.00370	N	-1.08717320061997	0.06878	0.3179262	-1.33475065254582	0.03988	0.1872181	1.86927398725406E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	0.65	-1.04	0.09555	-1.904000	0.01684	-11.470000	0.00602	-1.403000	0.01139	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3976:0.0:0.6024	4.815	0.12728	778	0.48011	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	315.71	49	chr15	84240252	.	T	C	315.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.065;DP=684;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=35.63;MQRankSum=-1.423;QD=7.52;ReadPosRankSum=-0.207;SOR=0.936	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,10:42:99:0|1:84240251_G_A:329,0,1173:84240251	17	0	1	1
chr15	84240514	84240514	A	G	exonic	GOLGA6L4	.	nonsynonymous SNV	GOLGA6L4:NM_001267536:exon6:c.A1160G:p.Q387R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00343090376359	.	.	0.0023	0.0075	0	0	.	0	0	0	3.84e-05	1	26028	rs768661572	0.0006	0.0004	0.0008	0.0005	0.0141	0.0006	0.0006	0.0126	0.0120	0.0141	0.0011	0	0	0	0.0011	3.382e-05	0.0012	1.851e-05	0.0064	0.0070	0.0067	0.0061	0.0161	0.0059	0.0057	0.0148	0.0142	0.0161	0	0.0022	0	0	0	0	4.816e-05	0.0026	0	0.115	0.28520	T	0.391	0.15456	T	.	.	.	.	.	.	.	.	.	.	0.999845	0.49770	D	.	.	.	2.52	0.14160	T	-0.82	0.22508	N	0.034	0.00942	-1.1067	0.03369	T	0.043	0.18701	T	5	0.0045909286	0.00096	T	0.003431	0.07725	T	0.035	0.08770	0.222	0.14518	0.0297737177859	0.01360	0.05112221123813911	0.05054	2.01131077824	0.93913	.	.	.	0.019181	0.15329	T	-0.680391	0.00048	T	-0.732526	0.04214	T	0.00232051877063112	0.00024	T	0.306769	0.05902	T	0.19177786	0.40819	0.13391659	0.32101	0.19177786	0.40819	0.13391659	0.32100	-7.942	0.60674	D	.	.	0.108	0.20430	B	.	.	-0.008025	0.04228	1.039	0.17477137647491892	0.00511	0.00990	0.03761	N	AEFI	.	.	.	-0.772284040939275	0.14036	0.695961	-1.0215690170151	0.09311	0.4625322	2.12573956845421E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	.	.	.	-0.520000	0.06338	-0.806000	0.07354	-2.503000	0.00263	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.9998:0.0:2.0E-4:0.0	5.185	0.14504	778	0.48011	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.04167	226.94	1	chr15	84240514	.	A	G	226.94	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-3.162;DP=160;ExcessHet=0;FS=3.329;InbreedingCoeff=-0.0872;MLEAC=2;MLEAF=0.083;MQ=32.42;MQRankSum=0.804;QD=7.09;ReadPosRankSum=-0.312;SOR=1.385	GT:AD:DP:GQ:PL	0/1:20,12:32:99:236,0,497	11	0	1	7
chr15	84863615	84863615	G	A	exonic	ALPK3	.	nonsynonymous SNV	ALPK3:NM_020778:exon11:c.G4474A:p.A1492T	.	429	1092	1	0	0	1	0.000457666	.	.	.	376728	Cardiovascular_phenotype|Cardiomyopathy,_familial_hypertrophic_27|not_provided|not_specified	MedGen:CN230736|MONDO:MONDO:0054838,MedGen:C4748014,OMIM:618052|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.050	.	0.0031	0.00199681	0.0012	0.0130	0.0004	0	0	3.042e-05	0.0012	0	0.0009896	153	154602	rs114449938	0.0004	0.0004	0.0004	0.0003	0.0132	0.0003	0.0003	0.0122	0.0118	0.0132	0.0005	7.654e-05	0	3.747e-05	0.0005	1.799e-05	0.0006	3.478e-05	0.0031	0.0031	0.0033	0.0030	0.0109	0.0029	0.0028	0.0101	0.0098	0.0109	0	0.0010	0	0.0002	9.413e-05	0	1.47e-05	0.0024	0	0.025	0.47320	D	0.252	0.23570	T	0.334	0.33305	B	0.035	0.22741	B	0.143705	0.18202	N	0.547339	1	0.08975	N	1.245	0.31408	L	2.56	0.13673	T	-1.12	0.28906	N	0.433	0.47208	-1.0027	0.29139	T	0.014	0.05369	T	10	0.0051348805	0.00111	T	.	.	.	0.050	0.13987	.	.	0.263140351381	0.25927	0.31858893002174477	0.31771	0.398029042616	0.40875	0.268398970366	0.05933	T	0.010224	0.09253	T	-0.569371	0.00223	T	-0.579607	0.14580	T	0.0101172288495818	0.00136	T	0.79572	0.43862	T	0.059273884	0.12027	0.07590774	0.16760	0.059273884	0.12027	0.07590774	0.16760	-3.38	0.14788	T	.	.	0.086	0.10545	B	.	.	2.278893	0.29133	18.03	0.98458135133095048	0.41711	0.23944	0.22238	N	AEFDBI	0.079316	0.16019	N	-0.619077778800906	0.18371	0.9532785	-0.589700077405896	0.19760	1.061685	0.999996124091736	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	3.93	0.44666	3.506000	0.53121	2.471000	0.32897	0.676000	0.76740	0.719000	0.28811	0.071000	0.22219	0.004000	0.06068	0.1454:0.0:0.8546:0.0	11.152	0.47689	641	0.64016	MHCK/EF2 kinase|MHCK/EF2 kinase|MHCK/EF2 kinase	.	.	.	.	.	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	0.001010	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1274.33	33	chr15	84863615	.	G	A	1274.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.893;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-0.455;SOR=0.622	GT:AD:DP:GQ:PL	0/1:53,53:106:99:1288,0,1290	18	0	1	0
chr15	85244827	85244868	TGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTACG	-	exonic	GOLGA6L3	.	nonframeshift deletion	GOLGA6L3:NM_001310153:exon6:c.837_878del:p.E318_E331del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1257926519	0.0009	0.0006	0.0010	0.0008	0.0237	0.0008	0.0008	0.0185	0.0166	0.0109	0.0029	0.0016	0.0237	0.0035	0.0010	0.0005	0.0024	4.034e-05	0.0007	0.0022	0.0005	0.0009	0.0149	0.0004	0.0003	0.0027	0.0011	0.0006	0	0.0009	0.0021	0	0	0	0.0006	0	0.0149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	151.68	49	chr15	85244826	.	ATGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTACG	A	151.68	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.724;DP=1420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0662;MLEAC=3;MLEAF=0.5;MQ=47.05;MQRankSum=0.808;QD=3.7;ReadPosRankSum=-2.929;SOR=0.531	GT:AD:DP:GQ:PL	0/1:32,9:41:99:152,0,968	2	0	1	16
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1944	635.01	117	chr15	88530840	.	T	C	635.01	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.068;DP=1914;ExcessHet=2.9153;FS=131.31;InbreedingCoeff=-0.2406;MLEAC=7;MLEAF=0.194;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=0.803;SOR=11.121	GT:AD:DP:GQ:PL	0/1:100,25:125:23:23,0,2400	11	0	7	1
chr15	89648478	89648478	G	T	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon5:c.C1220A:p.A407D	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	134850	not_specified|Inborn_genetic_diseases|Acrocallosal_syndrome|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.114	0.237569703483	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs587780375	0.0002	0.0002	0.0003	0.0002	0.0116	0.0002	0.0002	0.0103	0.0098	0.0116	0.0007	0	0	0	0	1.247e-06	0.0008	0	0.0025	0.0025	0.0028	0.0023	0.0086	0.0023	0.0022	0.0078	0.0076	0.0086	0	0.0009	0	0	0	0	3.034e-05	0.0020	0	0.134	0.26300	T	0.38	0.15988	T	0.535	0.37805	P	0.331	0.42107	B	.	.	.	.	0.998543	0.45064	D	0.805	0.20218	L	-0.57	0.71307	T	-1.82	0.42763	N	0.189	0.20660	-0.7506	0.57904	T	0.268	0.63939	T	9	0.053034514	0.05431	T	0.23757	0.88549	D	0.114	0.32008	.	.	0.71767939224	0.71519	0.7656517102123761	0.76514	0.0496312943959	0.05439	0.879316329956	0.93869	D	0.208042	0.56786	T	-0.349812	0.04739	T	-0.269566	0.47862	T	0.59617668390274	0.36249	D	0.70443	0.31478	T	0.44101483	0.63468	0.41743755	0.65797	0.44101483	0.63469	0.41743755	0.65797	-6.461	0.49984	T	0.5164895140644009	0.58942	0.152	0.33619	B	.	.	3.167966	0.42947	21.6	0.99029185281982901	0.50764	0.89712	0.50354	D	AEFDBI	0.387824	0.46766	N	-0.0201585984337846	0.40944	2.440337	0.0195510332663457	0.40623	2.427363	0.9999999756321	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.440796	0.06475	0	0.562822	0.20929	0	.	.	3.92	3.92	0.44525	3.841000	0.55557	8.965000	0.78464	0.554000	0.28208	0.996000	0.39380	1.000000	0.68203	0.591000	0.31164	0.0978:0.0:0.9022:0.0	9.799	0.39921	843	0.36859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	101.41	4	chr15	89648478	.	G	T	101.41	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.282;DP=189;ExcessHet=0;FS=3.979;InbreedingCoeff=-0.0638;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=20.28;ReadPosRankSum=0.524;SOR=1.447	GT:AD:DP:GQ:PL	0/1:1,4:5:27:114,0,27	17	0	1	1
chr15	89652882	89652882	G	A	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon2:c.C49T:p.R17W	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	134864	Acrocallosal_syndrome|not_provided|not_specified	MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.407	.	.	0.00519169	0.0022	0.0195	0.0077	0	0	0.0002	0	0.0002	0.0005175	80	154602	rs141865394	0.0005	0.0005	0.0006	0.0004	0.0167	0.0005	0.0005	0.0155	0.0150	0.0167	0.0012	0.0004	0.0006	0	0.0007	3.913e-05	0.0011	3.803e-05	0.0039	0.0039	0.0039	0.0040	0.0134	0.0037	0.0036	0.0125	0.0121	0.0134	0	0.0020	0.0003	0.0010	0	0	5.88e-05	0.0009	0	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.857	0.61067	P	.	.	.	.	0.779872	0.34253	D	3.645	0.94141	H	-0.85	0.74371	T	-5.94	0.89093	D	0.487	0.52119	0.361	0.88515	D	0.465	0.79340	T	9	0.011151433	0.00245	T	.	.	.	0.407	0.71946	.	.	0.621650015432	0.61858	0.5328956549714687	0.53214	0.0969859525798	0.10956	0.696668505669	0.66663	T	0.796096	0.94752	D	-0.247684	0.14385	T	-0.114931	0.62215	T	0.0602973406734012	0.07215	T	0.979435	0.92911	D	0.61568093	0.73532	0.601872	0.76867	0.78684586	0.83078	0.58453274	0.75910	-11.191	0.80695	D	0.25490548436094257	0.34471	0.128	0.27283	B	.	.	3.108110	0.41911	21.4	0.99767264052827698	0.85583	0.30311	0.24050	N	AEFDGBHCI	0.685027	0.64717	D	-0.02407268420362	0.40766	2.426714	-0.259221426044242	0.29455	1.650361	0.999439271756791	0.39683	0.696267	0.57585	0	0.588066	0.40923	0	0.691665	0.62940	0	0.635551	0.53088	0	.	.	4.66	2.23	0.27189	1.089000	0.30501	1.990000	0.30074	-0.140000	0.12423	0.045000	0.21207	1.000000	0.68203	0.013000	0.09966	0.0:0.0:0.5816:0.4184	12.848	0.57230	842	0.36989	Kinesin motor domain|Kinesin motor 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	.	.	.	.	.	.	.	.	0.02632	1560.33	38	chr15	89652882	.	G	A	1560.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.118;DP=883;ExcessHet=0;FS=2.703;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=0.778;SOR=0.976	GT:AD:DP:GQ:PL	0/1:41,56:97:99:1574,0,986	18	0	1	0
chr15	90358865	90358865	G	C	exonic	ZNF774	.	nonsynonymous SNV	ZNF774:NM_001004309:exon3:c.G119C:p.S40T	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00242934934664	0.0007	0.00159744	0.0002	0.0021	0	0	0	0	0	6.105e-05	0.0002005	31	154602	rs146829380	7.804e-05	7.798e-05	7.901e-05	7.706e-05	0.0029	6.604e-05	6.146e-05	0.0025	0.0023	0.0029	4.475e-05	0	0	0	0	8.998e-07	0.0001	5.797e-05	0.0007	0.0008	0.0007	0.0008	0.0027	0.0006	0.0006	0.0023	0.0022	0.0027	0	0	0	0	0	0	0	0	0	0.513	0.34800	T	0.464	0.92824	T	0.0	0.02946	B	0.001	0.04355	B	0.236518	0.15806	U	0.470224	1	0.08975	N	1.04	0.26193	L	1.47	0.31987	T	-0.25	0.43334	N	0.068	0.04790	-1.0492	0.14621	T	0.040	0.17191	T	10	0.0030587316	0.00050	T	0.002429	0.04785	T	0.026	0.05648	.	.	0.0297737177859	0.01360	0.054903227773488404	0.05431	0.0389784565484	0.04147	0.248176261783	0.03579	T	0.001285	0.00766	T	-0.637093	0.00087	T	-0.691595	0.06297	T	0.00775837792465107	0.00091	T	0.506149	0.18877	T	0.03833489	0.05086	0.04973991	0.07664	0.03833489	0.05086	0.04973991	0.07663	-4.018	0.24072	T	.	.	0.082	0.08609	B	.;.;.	.;.;.	2.070908	0.26338	17.08	0.28718711043943229	0.01488	0.02997	0.07858	N	AEFDBHCI	0.040612	0.06065	N	-0.867749778651212	0.11616	0.5615293	-0.886981140174618	0.12402	0.6377195	0.964744781590099	0.28782	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.550183	0.17644	0	.	.	4.59	2.52	0.29514	0.291000	0.18748	0.920000	0.22697	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.603000	0.31463	0.0972:0.1612:0.7416:0.0	9.299	0.36994	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	843.33	33	chr15	90358865	.	G	C	843.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=1.77;SOR=0.627	GT:AD:DP:GQ:PL	0/1:31,32:63:99:857,0,756	18	0	1	0
chr15	90360088	90360088	C	T	exonic	ZNF774	.	nonsynonymous SNV	ZNF774:NM_001004309:exon4:c.C257T:p.T86I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00412910292976	0.0008	0.00119808	0.0003	0.0032	0.0002	0	0	3.001e-05	0	0	0.0002781	43	154602	rs116083162	0.0001	0.0001	0.0001	0.0001	0.0048	0.0001	0.0001	0.0042	0.0040	0.0048	0.0002	0	0	0	0	8.994e-06	0.0001	0	0.0010	0.0010	0.0010	0.0010	0.0035	0.0009	0.0008	0.0030	0.0029	0.0035	0	0.0002	0	0	0	0	0	0.0009	0	0.264	0.16358	T	0.175	0.29945	T	0.0	0.02946	B	0.001	0.04355	B	0.202307	0.16569	N	0.437109	1	0.08975	N	0.83	0.20963	L	1.55	0.29866	T	-0.87	0.23590	N	0.032	0.00825	-1.0199	0.23747	T	0.017	0.07092	T	10	0.0037568212	0.00070	T	0.004129	0.09900	T	0.052	0.14661	.	.	0.185906805712	0.18197	0.26548391015744066	0.26461	0.0433540825785	0.04671	0.332596421242	0.15327	T	0.005674	0.05119	T	-0.673726	0.00052	T	-0.743273	0.03754	T	0.00331059606962131	0.00035	T	0.177782	0.01744	T	0.036403343	0.04471	0.046209574	0.06388	0.036403343	0.04471	0.046209574	0.06388	-3.985	0.23578	T	.	.	0.085	0.09965	B	.	.	0.769838	0.11396	8.010	0.94875027093898134	0.25701	0.06325	0.12322	N	AEFDBI	0.042888	0.06711	N	-0.86417514828486	0.11703	0.566223	-0.723879191240291	0.16367	0.8654708	0.0158129700340649	0.12758	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	4.97	1.79	0.23992	-1.956000	0.01613	-1.483000	0.05337	0.433000	0.20966	0.000000	0.06391	0.000000	0.08366	0.988000	0.63387	0.1735:0.4722:0.1682:0.1861	1.547	0.02411	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1037.33	39	chr15	90360088	.	C	T	1037.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=940;ExcessHet=0;FS=1.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-1.067;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,37:80:99:0|1:90360079_A_G:1051,0,1165:90360079	18	0	1	0
chr15	90906007	90906007	C	T	exonic	MAN2A2	.	nonsynonymous SNV	MAN2A2:NM_006122:exon5:c.C698T:p.A233V,MAN2A2:NM_001320977:exon6:c.C698T:p.A233V	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0166315155132	0.0009	0.00119808	0.0002	0.0022	0	0	0	0	0	0	0.0001811	28	154602	rs151089946	5.884e-05	5.883e-05	7.08e-05	4.676e-05	0.0022	4.877e-05	4.497e-05	0.0018	0.0016	0.0022	6.708e-05	0	0	0	0	0	0.0001	1.159e-05	0.0006	0.0006	0.0005	0.0007	0.0022	0.0005	0.0005	0.0018	0.0017	0.0022	0	0.0001	0	0	0	0	0	0.0005	0	0.214	0.19361	T	0.326	0.18789	T	0.006	0.13644	B	0.035	0.22741	B	0.000119	0.50451	D	0.207005	0.999901	0.50806	D	1.125	0.28843	L	1.88	0.23884	T	-1.54	0.37375	N	0.257	0.29197	-1.0857	0.06281	T	0.053	0.22617	T	10	0.011112183	0.00244	T	0.016632	0.37977	T	0.072	0.21020	.	.	0.304435445954	0.30045	0.5555773336815019	0.55484	0.281062327463	0.30577	0.537191271782	0.44049	T	0.271495	0.64383	T	-0.503453	0.00547	T	-0.49963	0.22385	T	0.0486244403334804	0.05255	T	0.878912	0.59457	D	0.14026335	0.32367	0.2030642	0.44364	0.14026335	0.32367	0.2030642	0.44363	-7.349	0.56544	T	.	.	0.119	0.24566	B	.;.	.;.	4.596891	0.72769	25.9	0.99673975934686687	0.78782	0.86801	0.46162	D	AEFDBCI	0.245515	0.36644	N	-0.193829363586934	0.33391	1.893824	0.00880810877488139	0.40123	2.389543	0.999999949722639	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	1.861000	0.39078	4.788000	0.44881	0.599000	0.40250	0.905000	0.31549	1.000000	0.68203	0.818000	0.38543	0.0:1.0:0.0:0.0	19.576	0.95436	643	0.63827	Glycoside hydrolase family 38, N-terminal domain;Glycoside hydrolase family 38, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1006.33	40	chr15	90906007	.	C	T	1006.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.127;DP=777;ExcessHet=0;FS=3.215;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.827;SOR=0.396	GT:AD:DP:GQ:PL	0/1:41,40:81:99:1020,0,1144	18	0	1	0
chr16	62992	62992	G	A	exonic	RHBDF1	.	nonsynonymous SNV	RHBDF1:NM_022450:exon5:c.C653T:p.A218V	.	0	225	1	0	0	1	0.00221729	.	.	.	2196421	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.396	0.116394012089	.	.	7.876e-05	0	0	0.0002	0	0	0	0.0004	5.82e-05	9	154602	rs746845357	4.59e-05	4.583e-05	2.726e-05	6.474e-05	0.0006	3.667e-05	3.352e-05	0.0005	0.0004	0.0001	6.721e-05	0	0	0	0	5.399e-06	3.316e-05	0.0006	3.282e-05	3.281e-05	2.569e-05	4.027e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.992e-05	0	0	6.532e-05	0	0	0	0.0034	0	0	0.0006	0.01	0.56456	D	0.03	0.54159	D	0.998	0.73220	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.325	0.66631	M	-0.7	0.72785	T	-1.26	0.31778	N	0.612	0.62866	0.120	0.84536	D	0.524	0.82278	D	10	0.46417856	0.59468	T	0.116394	0.79587	D	0.396	0.71084	0.334	0.32167	0.819239731598	0.81753	0.5008231498140098	0.50004	0.618322327345	0.56229	0.775401651859	0.78234	T	0.06059	0.31428	T	-0.130989	0.31337	T	-0.0617707	0.66209	T	0.251398133394246	0.22936	T	0.857914	0.54791	D	0.15275984	0.34661	0.17140222	0.39321	0.15275984	0.34661	0.17140222	0.39320	-5.46	0.41492	T	.	.	0.365	0.57498	A	.	.	4.256052	0.64637	24.7	0.99917723544342196	0.98518	0.99407	0.95634	D	AEFDBI	0.908713	0.86439	D	0.665780589078334	0.77392	6.666178	0.600304586999361	0.74962	6.22724	0.999999999999997	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.88	4.88	0.63131	8.041000	0.89198	7.370000	0.58392	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.195000	0.21750	0.0:0.0:1.0:0.0	17.026	0.86320	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1934.33	42	chr16	62992	.	G	A	1934.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.187;DP=814;ExcessHet=0;FS=3.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=-0.66;SOR=1.056	GT:AD:DP:GQ:PL	0/1:44,69:113:99:1948,0,1071	18	0	1	0
chr16	176780	176780	G	C	exonic	HBA1	.	nonsynonymous SNV	HBA1:NM_000558:exon1:c.G64C:p.A22P	Erythremias, alpha- (3);Heinz body anemias, alpha-, Autosomal dominant;Hemoglobin H disease, nondeletional;Methemoglobinemias, alpha- (3);Thalassemias, alpha-	6	1514	2	0	0	2	0.000660066	.	.	YES	30765	HEMOGLOBIN_FONTAINEBLEAU	.	no_assertion_criteria_provided	other	.	.	.	.	.	.	.	.	0.691	0.468309004504	.	.	4.762e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs34324664	3.491e-06	7.526e-06	1.387e-06	5.624e-06	4.825e-05	1.02e-06	7.4e-07	1.626e-05	9.59e-06	0	0	0	0	0	0	9.12e-07	0	4.825e-05	6.684e-06	6.583e-06	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.014	0.53172	D	0.056	0.46632	T	.	.	.	.	.	.	0.066733	0.21790	N	0.483761	1	0.26565	N	.	.	.	-3.26	0.93587	D	-2.49	0.54217	N	0.373	0.41459	0.183	0.85622	D	0.745	0.91284	D	7	0.8705034	0.86314	D	0.468309	0.94635	D	0.691	0.88773	0.831	0.94042	0.999517709484	0.99951	0.914412387342954	0.91416	.	.	0.482113718987	0.36349	T	0.191461	0.54631	T	0.116708	0.66041	D	0.123515	0.78468	D	0.118818163871765	0.14315	T	0.852615	0.53799	D	0.7179116	0.79045	0.37303063	0.62498	0.8948871	0.90932	0.5509946	0.74038	-7.396	0.56876	T	.	.	0.248	0.48240	B	.	.	2.066179	0.26275	17.06	0.98453104419142423	0.41643	0.56713	0.30188	D	AEFDGBHCI	0.324222	0.42618	N	-0.489428796832762	0.22426	1.197421	-0.650111667122415	0.18214	0.9720033	0.99999911503506	0.74766	0.623552	0.39893	0	0.610034	0.51514	0	0.667671	0.60360	0	0.542086	0.14980	0	.	.	4.43	1.18	0.20058	0.806000	0.26786	0.267000	0.16613	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1594:0.0:0.7048:0.1358	7.396	0.26109	804	0.43891	Globin|Globin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	335.33	34	chr16	176780	.	G	C	335.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.452;DP=744;ExcessHet=0;FS=8.326;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.28;MQRankSum=0.031;QD=3.1;ReadPosRankSum=0.759;SOR=1.703	GT:AD:DP:GQ:PL	0/1:86,22:108:99:349,0,2240	18	0	1	0
chr16	697179	697179	G	A	exonic	FBXL16	.	nonsynonymous SNV	FBXL16:NM_153350:exon2:c.C227T:p.P76L	.	443	1060	18	1	0	20	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.303235837578	.	0.00159744	0.0008	0	0.0006	0.0002	0	0.0002	0.0039	0.0058	0.0005757	89	154602	rs546035990	0.0004	0.0004	0.0003	0.0006	0.0049	0.0004	0.0004	0.0045	0.0043	9.255e-05	0.0005	0	5.119e-05	0	0.0019	9.722e-05	0.0007	0.0049	0.0003	0.0003	0.0002	0.0003	0.0050	0.0002	0.0002	0.0035	0.0029	2.423e-05	0	0.0001	0	0.0002	0	0.0034	0.0002	0	0.0050	0.055	0.38407	T	0.134	0.34241	T	0.0	0.02946	B	0.0	0.01387	B	0.377362	0.04399	N	1.363540	0.999999	0.08975	N	1.1	0.28011	L	-1.66	0.82715	D	0.05	0.06369	N	0.081	0.05670	-0.8396	0.52673	T	0.336	0.70240	T	10	0.006508887	0.00147	T	0.303236	0.90951	D	0.247	0.55478	.	.	0.043077524339	0.03247	0.1932414902649941	0.19242	0.541579872358	0.51303	0.547271966934	0.45472	T	0.023791	0.18095	T	-0.500643	0.00567	T	-0.491512	0.23232	T	0.00867409649268681	0.00106	T	0.415458	0.10884	T	0.0373176	0.04761	0.06367278	0.12647	0.0373176	0.04761	0.06367278	0.12646	-4.061	0.24713	T	.	.	0.069	0.03372	B	.;.	.;.	1.601706	0.20476	14.77	0.7419711608897287	0.10606	0.31140	0.24262	N	AEFBI	0.126407	0.24334	N	-1.42038254293234	0.02460	0.1086549	-1.37888627048301	0.03478	0.1623141	0.180202301815477	0.17861	0.582742	0.33608	0	0.59043	0.45803	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	4.04	1.98	0.25351	1.229000	0.32202	4.336000	0.43042	-0.391000	0.05343	0.887000	0.31133	0.987000	0.30940	0.004000	0.06068	0.0836:0.0:0.7731:0.1433	9.957	0.40843	684	0.59539	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002035	0.000000	0.000000	0.002959	0.000000	0.008772	0.003125	0.003817	0.05263	1309.83	46	chr16	697179	.	G	A	1309.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.95;DP=643;ExcessHet=0.119;FS=2.178;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.01;ReadPosRankSum=1.41;SOR=1.133	GT:AD:DP:GQ:PL	0/1:15,22:37:99:575,0,372	17	0	2	0
chr16	717164	717164	C	T	exonic	METRN	.	nonsynonymous SNV	METRN:NM_024042:exon4:c.C659T:p.P220L	.	427	1082	13	0	0	13	0.00597152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00226248385481	0.0014	0.00119808	0.0014	0.0041	0.0005	0	0	0.0003	0	0.0058	0.0008473	131	154602	rs150417120	0.0006	0.0006	0.0004	0.0007	0.0052	0.0005	0.0005	0.0048	0.0047	0.0042	0.0003	0	2.543e-05	0	0.0030	0.0001	0.0007	0.0052	0.0014	0.0014	0.0013	0.0015	0.0052	0.0012	0.0012	0.0036	0.0031	0.0037	0	0.0003	0	0	0	0.0170	0.0003	0.0009	0.0052	0.696	0.04226	T	0.684	0.23984	T	0.0	0.02946	B	0.0	0.01387	B	0.046368	0.23446	N	0.420026	1	0.08975	N	-1.95	0.00216	N	1.71	0.26737	T	1.45	0.00835	N	0.044	0.12770	-0.9802	0.34955	T	0.017	0.06759	T	9	0.0034618378	0.00061	T	0.002262	0.04314	T	.	.	.	.	0.0551355673512	0.04727	0.40429874683861805	0.40345	0.264844217052	0.29036	0.344975709915	0.17180	T	0.003143	0.02546	T	-0.579012	0.00195	T	-0.603534	0.12516	T	0.00177680713760877	0.00018	T	0.60384	0.22664	T	0.021980561	0.00832	0.024941843	0.00524	0.021980561	0.00832	0.024941843	0.00524	-3.034	0.10552	T	.	.	0.051	0.00259	B	.;.	.;.	0.377872	0.07500	4.142	0.79010860548426631	0.12550	0.00887	0.03492	N	AEFGBHCI	0.086726	0.17585	N	-1.48553118158024	0.01952	0.08568558	-1.39632914982578	0.03291	0.1532207	0.999998413834424	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.493711	0.08198	1	0.699875	0.68795	0	.	.	4.94	1.36	0.21139	1.467000	0.34930	-0.273000	0.10332	-0.131000	0.13161	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.2552:0.161:0.5838	4.444	0.11009	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008603	0.000000	0.009537	0.005952	0.000000	0.008621	0.000000	0.018939	0.05263	5135.83	35	chr16	717164	.	C	T	5135.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.26;DP=1069;ExcessHet=0.119;FS=5.726;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=1.34;SOR=0.59	GT:AD:DP:GQ:PL	0/1:110,96:206:99:2415,0,2773	17	0	2	0
chr16	728857	728857	T	C	exonic	HAGHL	.	nonsynonymous SNV	HAGHL:NM_032304:exon6:c.T562C:p.C188R,HAGHL:NM_001290137:exon7:c.T562C:p.C188R,HAGHL:NM_001290139:exon7:c.T562C:p.C188R,HAGHL:NM_001323635:exon7:c.T562C:p.C188R,HAGHL:NM_001323636:exon7:c.T562C:p.C188R,HAGHL:NM_001365282:exon7:c.T562C:p.C188R	.	431	1078	13	0	0	13	0.00599355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0773881215239	0.0002	0.000998403	0.0009	0	0.0003	0	0	0.0003	0	0.0048	0.0006274	97	154602	rs149082510	0.0005	0.0004	0.0003	0.0006	0.0052	0.0004	0.0004	0.0048	0.0046	3.034e-05	0.0003	0	0	0	0.0026	0.0001	0.0005	0.0052	0.0004	0.0004	0.0003	0.0005	0.0055	0.0003	0.0003	0.0038	0.0033	0	0	0.0001	0	0.0002	0	0.0176	0.0003	0.0010	0.0055	0.52	0.22312	T	0.531	0.21478	T	0.011	0.32608	B	0.003	0.24975	B	0.949066	0.07644	N	1.023790	0.999996	0.08975	N	0.345	0.11182	N	-3.65	0.95179	D	-0.35	0.15578	N	0.046	0.06322	-0.4036	0.71914	T	0.519	0.82009	D	10	0.011203229	0.00246	T	0.077388	0.72759	D	0.188	0.46444	.	.	0.33110744837	0.32714	0.3462574308157688	0.34539	0.342726518813	0.36201	0.48286563158	0.36451	T	0.014856	0.14410	T	-0.287706	0.09868	T	-0.185231	0.56036	T	0.012360876234623	0.00202	T	0.218178	0.02774	T	0.16949926	0.37469	0.08519172	0.19652	0.16949926	0.37469	0.08519172	0.19651	-4.033	0.24296	T	.	.	0.118	0.24226	B	.;.;.;.	.;.;.;.	0.945708	0.13218	9.717	0.628519671272458	0.07069	0.21238	0.21331	N	AEFDGBHCI	0.313896	0.41892	N	-1.15548025119938	0.05690	0.2600612	-1.23826192218242	0.05307	0.252553	0.999999999998732	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	4.74	-5.67	0.02247	0.184000	0.16748	-5.007000	0.01889	-0.157000	0.11712	0.014000	0.18986	0.000000	0.08366	0.825000	0.38878	0.3067:0.1819:0.3362:0.1753	0.782	0.00976	658	0.62094	.;.;Hydroxyacylglutathione hydrolase, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007560	0.000000	0.005435	0.005882	0.000000	0.017241	0.000000	0.018939	0.05263	2385.83	36	chr16	728857	.	T	C	2385.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.341;DP=1057;ExcessHet=0.119;FS=1.945;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=2.53;SOR=0.525	GT:AD:DP:GQ:PL	0/1:39,62:101:99:1434,0,945	17	0	2	0
chr16	813335	813335	C	T	exonic	PRR25	.	nonsynonymous SNV	PRR25:NM_001013638:exon3:c.C683T:p.A228V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00293376741044	.	.	0.0001	0	0	0	0	0	0	0.0010	6.5e-06	1	154602	rs771813446	9.51e-06	9.577e-06	2.866e-06	1.644e-05	0.0002	5.31e-06	4.09e-06	9.28e-05	7.268e-05	0	0	0	0	0	0.0002	0	0	0.0002	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	789.33	35	chr16	813335	.	C	T	789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.026;DP=721;ExcessHet=0;FS=3.466;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-1.586;SOR=1.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,30:80:99:0|1:813335_C_T:803,0,2009:813335	18	0	1	0
chr16	1625985	1625985	G	T	exonic	CRAMP1	.	nonsynonymous SNV	CRAMP1:NM_020825:exon3:c.G359T:p.G120V	.	414	1062	45	1	0	47	0.021649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	0.0022	0.00439297	0.0087	0.0009	0.0122	0	0	0.0054	0.0053	0.0151	0.0015977	247	154602	rs150953427	0.0027	0.0026	0.0022	0.0031	0.0200	0.0026	0.0026	0.0170	0.0159	0.0013	0.0026	0.0125	5.597e-05	2.031e-05	0.0200	0.0015	0.0050	0.0159	0.0020	0.0020	0.0018	0.0021	0.0166	0.0018	0.0017	0.0137	0.0126	0.0003	0	0.0022	0.0121	0	0	0.0068	0.0018	0.0047	0.0166	0.003	0.68238	D	0.006	0.70582	D	0.047	0.21998	B	0.039	0.23607	B	0.714790	0.06279	U	1.293900	0.516498	0.54805	D	1.845	0.48678	L	1.6	0.28604	T	-1.81	0.42575	N	0.234	0.26596	-1.1190	0.02395	T	0.047	0.20116	T	10	0.0060564578	0.00136	T	.	.	.	0.044	0.11924	.	.	0.043077524339	0.03247	0.36344445300390743	0.36258	2.073624099	0.94498	0.61243647337	0.54661	T	0.290878	0.66365	T	-0.464481	0.00921	T	-0.427647	0.30203	T	0.051960638129214	0.05841	T	0.880312	0.59828	D	0.11622287	0.27416	0.13331488	0.31970	0.11622287	0.27416	0.13331488	0.31969	-5.155	0.38481	T	.	.	0.086	0.11172	B	.;.	.;.	3.568289	0.50241	22.9	0.99028105396021637	0.50742	0.91850	0.54398	D	AEFDBI	0.208233	0.33433	N	-0.513885814024058	0.21630	1.149333	-0.402537516771408	0.24923	1.367544	0.951471058068634	0.27959	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.636168	0.56350	0	.	.	5.99	4.03	0.46115	4.409000	0.59524	7.437000	0.58841	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0697:0.0:0.7915:0.1389	9.831	0.40107	553	0.71930	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029213	0.021978	0.054217	0.039130	0.000000	0.000000	0.000000	0.041667	0.07895	3209.79	34	chr16	1625985	.	G	T	3209.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.249;DP=840;ExcessHet=0.3672;FS=3.269;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.395;SOR=0.885	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1340,0,1020	16	0	3	0
chr16	2940061	2940061	A	T	exonic	FLYWCH1	.	nonsynonymous SNV	FLYWCH1:NM_001308068:exon9:c.A2080T:p.T694S,FLYWCH1:NM_020912:exon9:c.A2077T:p.T693S,FLYWCH1:NM_032296:exon9:c.A2077T:p.T693S	.	437	1059	26	0	0	26	0.0121269	.	.	.	726563	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.028	.	0.0012	0.00838658	0.0093	0.0004	0.0025	0.0001	0	0.0028	0.0170	0.0508	0.0061513	951	154602	rs200567618	0.0039	0.0039	0.0026	0.0052	0.0410	0.0038	0.0038	0.0398	0.0394	0.0003	0.0013	0.0185	0.0001	1.876e-05	0.0151	0.0010	0.0055	0.0410	0.0028	0.0028	0.0021	0.0034	0.0404	0.0026	0.0025	0.0358	0.0340	0.0002	0	0.0016	0.0239	0.0002	0	0.0102	0.0014	0.0057	0.0404	0.084	0.32929	T	0.319	0.19246	T	0.105	0.36465	B	0.011	0.24394	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	.	.	.	-0.92	0.24676	N	0.186	0.21188	-1.0157	0.25110	T	0.028	0.11838	T	8	0.0030860603	0.00051	T	.	.	.	0.028	0.06331	.	.	0.0138822411134	0.00435	0.06949796289218495	0.06887	.	.	0.444318264723	0.31167	T	0.01465	0.12435	T	-0.594237	0.00158	T	-0.59637	0.13119	T	0.00309757687817122	0.00032	T	0.451355	0.12777	T	0.032496184	0.03285	0.030530464	0.01519	0.032496184	0.03284	0.030530464	0.01519	-3.083	0.11193	T	.	.	0.118	0.24226	B	.;.	.;.	-0.105926	0.03606	0.708	0.63187656537207515	0.07157	0.01263	0.04429	N	AEFBHCI	0.065080	0.12672	N	-1.28060460151924	0.03909	0.1754922	-1.39347297607137	0.03321	0.1546841	9.79584783668024E-6	0.01202	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	0.785	-0.71	0.10668	-0.189000	0.09625	1.438000	0.26503	-0.496000	0.05032	0.002000	0.15269	0.588000	0.25656	0.002000	0.04165	0.563:0.437:0.0:0.0	3.393	0.06870	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016580	0.010101	0.012228	0.006993	0.000000	0.017241	0.018293	0.045455	0.02632	751.33	33	chr16	2940061	.	A	T	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.254;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-0.713;SOR=0.756	GT:AD:DP:GQ:PL	0/1:29,30:59:99:765,0,753	18	0	1	0
chr16	3050484	3050484	A	G	exonic	MMP25	.	nonsynonymous SNV	MMP25:NM_022468:exon4:c.A599G:p.E200G	.	427	1060	35	0	0	35	0.0162413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0157342935427	0.0026	0.00299521	0.0040	0.0004	0.0030	0	0.0059	0.0050	0.0093	0.0042	0.0037063	573	154602	rs61753772	0.0030	0.0030	0.0028	0.0031	0.0374	0.0029	0.0029	0.0333	0.0317	0.0022	0.0036	0.0188	0	0.0044	0.0374	0.0022	0.0055	0.0041	0.0033	0.0033	0.0030	0.0035	0.0060	0.0030	0.0029	0.0050	0.0046	0.0007	0	0.0060	0.0187	0	0.0038	0.0544	0.0032	0.0085	0.0041	0.102	0.30235	T	0.115	0.36630	T	0.025	0.19245	B	0.093	0.30104	B	0.005235	0.32979	N	0.135019	0.900016	0.36149	D	1.445	0.36358	L	1.95	0.22474	T	-3.71	0.70674	D	0.409	0.45237	-1.0639	0.10807	T	0.034	0.14769	T	10	0.007707119	0.00175	T	0.015734	0.36624	T	0.112	0.31546	.	.	0.580833741332	0.57755	0.4782806962624008	0.47748	0.664319092626	0.59071	0.421868532896	0.28093	T	0.200117	0.55760	T	-0.382806	0.02991	T	-0.322384	0.42312	T	0.0323805169890309	0.02369	T	0.805819	0.47523	T	0.1698819	0.37530	0.15520324	0.36391	0.1698819	0.37530	0.15520324	0.36391	-8.861	0.66798	D	0.23655069084413585	0.32032	0.282	0.51454	B	.;.	.;.	4.114602	0.61453	24.3	0.99620379997298081	0.75353	0.75012	0.36710	D	AEFBCI	0.238057	0.36024	N	-0.0692736843006788	0.38746	2.27407	0.0789221993397978	0.43489	2.649685	0.284738229942804	0.19024	0.634777	0.41761	0	0.514364	0.08380	0	0.643519	0.47002	0	0.616125	0.45549	0	.	.	4.97	4.97	0.65419	2.310000	0.43368	.	.	0.751000	0.87719	0.841000	0.30301	1.000000	0.68203	0.986000	0.61781	0.8201:0.0:0.0:0.1799	8.126	0.30157	786	0.46839	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029204	0.005051	0.035326	0.064327	0.000000	0.077586	0.006098	0.007576	0.07895	3453.77	38	chr16	3050484	.	A	G	3453.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.751;DP=807;ExcessHet=0;FS=1.357;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.06;ReadPosRankSum=0.767;SOR=0.838	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1341,0,1400	17	1	1	0
chr16	3608480	3608480	G	A	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon2:c.C485T:p.T162M	Fanconi anemia, complementation group P, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	466442	Fanconi_anemia_complementation_group_P|Fanconi_anemia|not_specified	MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.249	0.0594691234776	0.0002	.	2.471e-05	0	0	0	0	2.997e-05	0	6.056e-05	2.59e-05	4	154602	rs140876043	6.43e-05	6.43e-05	6.398e-05	6.463e-05	0.0008	5.361e-05	4.976e-05	0.0006	0.0005	2.987e-05	4.472e-05	0	0.0008	1.872e-05	0.0005	4.137e-05	4.967e-05	5.797e-05	3.286e-05	3.283e-05	3.854e-05	2.691e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0002	0.003	0.68238	D	0.003	0.76473	D	1.0	0.90584	D	0.886	0.62898	P	0.047312	0.23356	N	0.310015	0.972	0.25635	N	1.795	0.47270	L	5.09	0.01238	T	-1.8	0.42384	N	0.262	0.29659	-0.9572	0.39699	T	0.010	0.03811	T	10	0.25471163	0.42854	T	0.059469	0.67676	D	0.249	0.55752	.	.	0.605980667623	0.60282	0.23273152902852814	0.23188	0.142500541401	0.16072	0.337102174759	0.16003	T	0.138837	0.47253	T	-0.329837	0.06124	T	-0.50891	0.21428	T	0.362279742956161	0.27498	T	0.588241	0.21547	T	0.060754303	0.12503	0.15236282	0.35850	0.060754303	0.12503	0.15236282	0.35849	-5.196	0.38901	T	.	.	0.098	0.16319	B	.	.	4.016430	0.59292	24.1	0.99620461283477146	0.75413	0.91209	0.53074	D	AEFBCI	0.450459	0.50484	N	0.541751612560436	0.69582	5.377372	0.570089752863346	0.72806	5.868176	0.999999988807777	0.74766	0.615465	0.37627	0	0.623108	0.53289	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.53	5.53	0.82530	5.463000	0.66445	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.526000	0.29613	0.0:0.0:1.0:0.0	15.316	0.73789	588	0.69043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1279.33	36	chr16	3608480	.	G	A	1279.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.853;DP=772;ExcessHet=0;FS=4.411;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.461;SOR=1.084	GT:AD:DP:GQ:PL	0/1:67,55:122:99:1293,0,1521	18	0	1	0
chr16	11178473	11178473	G	A	exonic	CLEC16A	.	nonsynonymous SNV	CLEC16A:NM_015226:exon23:c.G2945A:p.S982N	.	417	1083	21	1	0	23	0.0105071	.	.	.	714716	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.171	.	0.0055	0.00279553	0.0054	0.0021	0.0026	0	0.0041	0.0079	0.0112	0.0024	0.0052457	811	154602	rs72650689	0.0060	0.0060	0.0057	0.0062	0.0125	0.0059	0.0058	0.0102	0.0093	0.0012	0.0024	0.0085	0	0.0026	0.0125	0.0068	0.0056	0.0026	0.0047	0.0047	0.0050	0.0044	0.0084	0.0044	0.0043	0.0078	0.0076	0.0012	0.0011	0.0018	0.0078	0	0.0021	0.0102	0.0084	0.0061	0.0014	0.012	0.54683	D	0.133	0.34359	T	0.967	0.56408	D	0.878	0.62312	P	0.000000	0.84330	D	0.000000	0.819681	0.37079	D	2.005	0.54552	M	0.49	0.55775	T	-1.03	0.27052	N	0.321	0.36148	-0.6061	0.64565	T	0.171	0.51261	T	10	0.009528667	0.00215	T	.	.	.	0.171	0.43483	.	.	0.69310590244	0.69046	0.4805726095281292	0.47977	0.747258973933	0.63585	0.528952538967	0.42886	T	0.11364	0.43084	T	-0.342711	0.05202	T	-0.258092	0.49015	T	0.0123911295689971	0.00203	T	0.888211	0.61727	D	0.31386065	0.54117	0.21024717	0.45402	0.31386065	0.54117	0.21024717	0.45401	-5.295	0.39894	T	.	.	0.495	0.64371	A	.	.	4.549481	0.71588	25.7	0.99700423951381956	0.80591	0.96790	0.70953	D	AEFDBI	0.773732	0.70765	D	0.586379035872873	0.72326	5.78781	0.596990418027236	0.74722	6.185836	0.999996601897484	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.755437	0.99637	0	.	.	4.64	4.64	0.57399	7.646000	0.82603	11.657000	0.93945	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	15.032	0.71375	835	0.38313	.	RP11-876N24.3|RP11-876N24.4|RP11-876N24.3|CIITA|RP11-876N24.3|RP11-876N24.4|RMI2|RP11-876N24.4	Adipose_Subcutaneous|Adipose_Subcutaneous|Breast_Mammary_Tissue|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Whole_Blood	.	.	.	Likely benign	0	0	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	0.004028	0.005051	0.004076	0.002924	0.000000	0.017241	0.000000	0.003788	0.02632	3319.33	34	chr16	11178473	.	G	A	3319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.044;DP=895;ExcessHet=0;FS=1.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=1.52;SOR=0.825	GT:AD:DP:GQ:PL	0/1:130,130:260:99:3333,0,3384	18	0	1	0
chr16	11927452	11927458	GCGGCCC	0	exonic	NPIPB2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	2995.78	34	chr16	11927452	.	GCGGCCC	*	2995.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.46;DP=1582;ExcessHet=2.0135;FS=1.863;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=3.11;ReadPosRankSum=-1.288;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,55:166:99:0|1:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:1790,0,4399:11927441	14	0	5	0
chr16	11927459	11927495	TCCGCCTCTTGGGTTCGGGTGGTGATTCCACCTCAGC	0	exonic	NPIPB2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	2954.78	34	chr16	11927459	.	TCCGCCTCTTGGGTTCGGGTGGTGATTCCACCTCAGC	*	2954.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.07;DP=1597;ExcessHet=2.0135;FS=2.628;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=3.02;ReadPosRankSum=-0.684;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,55:166:99:0|1:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:1790,0,4399:11927441	14	0	5	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	65183.6	187	chr16	11927475	.	G	*	65183.6	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.94;DP=3186;ExcessHet=0.0151;FS=0.819;InbreedingCoeff=0.4571;MLEAC=6;MLEAF=0.158;MQ=59.99;MQRankSum=0;QD=21.88;ReadPosRankSum=-0.239;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,55:160:99:1|0:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:5162,3275,4252:11927441	13	0	6	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	3525.85	234	chr16	14582206	.	G	C	3525.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.534;DP=3197;ExcessHet=20.8569;FS=372.816;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.41;SOR=13.96	GT:AD:DP:GQ:PL	0/1:96,68:164:99:312,0,1668	4	0	15	0
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45,BFAR:NM_016561:exon8:c.1234_1237del:p.P412Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1416.55	75	chr16	14667707	.	GCCCC	G	1416.55	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.548;DP=1073;ExcessHet=4.0268;FS=83.656;InbreedingCoeff=-0.2788;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=0.47;SOR=9.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,14:80:61:0|1:14667707_GCCCC_G:61,0,2592:14667707	11	0	8	0
chr16	14667711	14667711	-	GGGA	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGA:p.L288Rfs*19,BFAR:NM_016561:exon8:c.1237_1238insGGGA:p.L413Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1294.52	71	chr16	14667711	.	C	CGGGA	1294.52	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.478;DP=1124;ExcessHet=4.0268;FS=78.34;InbreedingCoeff=-0.2788;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=0.638;SOR=9.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,14:80:61:0|1:14667707_GCCCC_G:61,0,2592:14667707	18	0	1	0
chr16	20475380	20475380	A	G	exonic	ACSM2A	.	nonsynonymous SNV	ACSM2A:NM_001308169:exon6:c.A676G:p.I226V,ACSM2A:NM_001308172:exon7:c.A913G:p.I305V,ACSM2A:NM_001308954:exon8:c.A913G:p.I305V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0205	.	0.0059	0.0654	0.0014	0	0	0.0002	0.0011	0	3.84e-05	1	26028	rs144701679	0.0009	0.0012	0.0010	0.0008	0.0345	0.0009	0.0009	0.0328	0.0321	0.0345	0.0010	0	0	0	0.0014	7.556e-05	0.0015	5.798e-05	0.0007	0.0029	0.0007	0.0007	0.0024	0.0006	0.0005	0.0020	0.0019	0.0024	0	0.0003	0	0	0	0	1.47e-05	0	0	0.187	0.23007	T	0.425	0.24334	T	0.033	0.20350	B	0.089	0.29769	B	0.013603	0.28787	N	0.242334	0.922771	0.27253	N	1.16	0.29674	L	1.14	0.38397	T	-0.74	0.21429	N	0.214	0.25745	-1.0247	0.22181	T	0.006	0.02206	T	10	0.0046809316	0.00098	T	.	.	.	0.038	0.09825	.	.	0.299770980665	0.29595	0.41005724260979504	0.40921	0.2436039867	0.26860	0.375413447618	0.21605	T	0.010792	0.09704	T	-0.588563	0.00171	T	-0.642834	0.09464	T	0.00139884410831569	0.00014	T	0.510949	0.16331	T	0.118559204	0.27931	0.055238094	0.09651	0.118559204	0.27931	0.055238094	0.09650	-6.809	0.52626	T	.	.	0.110	0.21163	B	.;.;.;.;.	.;.;.;.;.	0.720281	0.10892	7.566	0.46866115916345658	0.03787	0.20533	0.21076	N	AEFDGI	0.493355	0.52960	N	-1.14462486284786	0.05868	0.2686815	-1.11749531180675	0.07366	0.3580098	7.97382407126304E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.36	1.05	0.19280	0.982000	0.29137	2.263000	0.31775	-0.142000	0.12367	0.400000	0.26170	0.852000	0.27401	0.047000	0.14932	0.676:0.0:0.324:0.0	6.804	0.22949	788	0.46569	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005307	0.013889	0.009615	0.004386	0.000000	0.008772	0.000000	0.000000	0.02632	693.33	33	chr16	20475380	.	A	G	693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.065;DP=814;ExcessHet=0;FS=1.332;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.3;MQRankSum=-6.341;QD=3.94;ReadPosRankSum=-1.179;SOR=0.722	GT:AD:DP:GQ:PL	0/1:128,48:176:99:707,0,3451	18	0	1	0
chr16	20775921	20775921	G	T	exonic	ACSM3	.	nonsynonymous SNV	ACSM3:NM_005622:exon3:c.G302T:p.G101V,ACSM3:NM_202000:exon3:c.G302T:p.G101V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	.	0.0054	0.00379393	0.0016	0.0175	0.0005	0	0	2.997e-05	0	0	0.0014295	221	154602	rs2229242	0.0005	0.0005	0.0006	0.0004	0.0191	0.0005	0.0005	0.0178	0.0173	0.0191	0.0008	0	0	0	0.0003	1.709e-05	0.0011	1.159e-05	0.0053	0.0053	0.0054	0.0051	0.0186	0.0050	0.0049	0.0175	0.0171	0.0186	0	0.0017	0	0	0	0	0	0.0024	0	0.022	0.72154	D	0.056	0.69154	T	0.999	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.03	0.40469	T	-6.31	0.93903	D	0.685	0.72209	-0.9749	0.36148	T	0.091	0.34737	T	10	0.00990653	0.00222	T	.	.	.	0.224	0.52174	.	.	0.563544018958	0.56017	0.6842901526114302	0.68368	0.568765040297	0.53076	0.446747660637	0.31500	T	0.244903	0.61411	T	-0.384143	0.02932	T	-0.310291	0.43627	T	0.03914570388332	0.03536	T	0.854814	0.54193	D	0.74933994	0.80830	0.64270675	0.79120	0.74933994	0.80832	0.64270675	0.79121	-11.6	0.84251	D	.	.	0.326	0.61046	B	.;.;.	.;.;.	4.344384	0.66670	25.0	0.99729831865107055	0.82690	0.92919	0.56870	D	AEFBI	0.792907	0.72107	D	0.554329704165085	0.70345	5.488	0.576937804909534	0.73292	5.946387	0.84928081099439	0.25013	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.92	4.95	0.64894	3.476000	0.52907	1.016000	0.23368	0.618000	0.50648	1.000000	0.71638	0.316000	0.24298	0.988000	0.63387	0.0673:0.1225:0.8102:0.0	11.739	0.51048	143	0.94301	AMP-dependent synthetase/ligase;.;AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	809.33	40	chr16	20775921	.	G	T	809.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.024;DP=710;ExcessHet=0;FS=1.869;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.359;SOR=0.933	GT:AD:DP:GQ:PL	0/1:39,37:76:99:823,0,997	18	0	1	0
chr16	21847534	21847534	T	C	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon2:c.A128G:p.N43S,NPIPB4:NM_001310148:exon3:c.A128G:p.N43S,NPIPB4:NM_001384979:exon3:c.A128G:p.N43S,NPIPB4:NM_001384980:exon3:c.A128G:p.N43S,NPIPB3:NM_130464:exon3:c.A128G:p.N43S,NPIPB4:NM_001384981:exon4:c.A119G:p.N40S,NPIPB4:NM_001384982:exon4:c.A71G:p.N24S	.	465	1050	6	1	0	8	0.00379507	.	.	.	2807722	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.094	.	.	0.00179712	0.0082	0	0.0118	0	0.0625	0.0113	0	0.0028	0.0001358	21	154602	rs199863058	0.0050	0.0058	0.0050	0.0049	0.0070	0.0049	0.0048	0.0053	0.0053	0.0010	0.0025	0.0150	0	0.0034	0.0070	0.0055	0.0058	0.0008	0.0042	0.0047	0.0040	0.0044	0.0057	0.0039	0.0038	0.0052	0.0050	0.0010	0	0.0048	0.0159	0	0.0057	0.0180	0.0057	0.0036	0.0005	0.006	0.63226	D	0.009	0.92824	D	0.843	0.46605	P	0.893	0.63340	P	.	.	.	.	.	.	.	.	.	.	0.89	0.45636	T	-2.13	0.61435	N	0.112	0.16168	-0.5694	0.66039	T	0.198	0.55372	T	6	0.0053065717	0.00116	T	.	.	.	0.094	0.27141	.	.	0.198526703765	0.19489	0.011931017693493294	0.01153	.	.	.	.	.	0.024963	0.18762	T	-0.539092	0.00339	T	-0.54286	0.18016	T	0.0400907091728157	0.03707	T	0.888311	0.64041	D	0.10054736	0.23742	0.120550916	0.29091	0.10054736	0.23742	0.120550916	0.29090	-2.825	0.08416	T	.	.	0.216	0.44553	B	.;.;.;.;.	.;.;.;.;.	0.430060	0.08007	4.721	0.99046061366414018	0.51140	0.00390	0.01961	N	AEFI	0.061874	0.11859	N	-0.482341788067094	0.22660	1.211501	-0.780919192340417	0.14963	0.7845777	1.35027997785632E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	0.589	0.589	0.16636	-0.229000	0.09106	-9.545000	0.00807	-0.646000	0.04408	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	.	.	.	603	0.67726	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1763.33	35	chr16	21847534	.	T	C	1763.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.241;DP=870;ExcessHet=0;FS=2.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.66;MQRankSum=-2.955;QD=7.08;ReadPosRankSum=1.58;SOR=0.53	GT:AD:DP:GQ:PL	0/1:160,89:249:99:1777,0,3999	18	0	1	0
chr16	22133009	22133009	G	A	exonic	VWA3A	.	nonsynonymous SNV	VWA3A:NM_173615:exon20:c.G1982A:p.R661H	.	431	1067	23	1	0	25	0.0115794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00981108398019	0.0034	0.00159744	0.0033	0.0004	0.0025	0	0.0002	0.0047	0.0034	0.0033	0.0030401	470	154602	rs193072842	0.0033	0.0034	0.0033	0.0034	0.0130	0.0033	0.0032	0.0106	0.0098	0.0007	0.0022	0.0281	7.557e-05	0.0002	0.0130	0.0031	0.0044	0.0033	0.0028	0.0027	0.0028	0.0027	0.0033	0.0025	0.0024	0.0028	0.0026	0.0006	0	0.0028	0.0317	0.0002	0	0.0034	0.0031	0.0057	0.0033	0.194	0.24277	T	0.235	0.29945	T	0.014	0.16867	B	0.01	0.14941	B	0.001147	0.40056	N	0.227351	0.750423	0.81001	D	1.475	0.37068	L	1.91	0.53088	T	-1.9	0.50337	N	0.1	0.08227	-1.1148	0.02688	T	0.068	0.28013	T	10	0.006254852	0.00141	T	0.009811	0.25586	T	0.034	0.08419	.	.	0.266385636622	0.26244	0.3237690010323594	0.32289	0.0535352238273	0.05900	0.277040153742	0.07083	T	0.015616	0.13063	T	-0.417689	0.01770	T	-0.369032	0.37003	T	0.0110051758183337	0.00159	T	0.647135	0.25820	T	0.12731166	0.29795	0.096040405	0.22802	0.12731166	0.29794	0.096040405	0.22802	-6.195	0.47882	T	.	.	0.077	0.06479	B	.;.;.	.;.;.	2.166792	0.27606	17.52	0.99773008339121061	0.86088	0.79769	0.39593	D	AEFDBI	0.291974	0.40297	N	-0.0164609820574259	0.41110	2.453219	0.128452929557453	0.46011	2.85421	0.593625954034329	0.21667	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	2.867000	0.48126	5.033000	0.46843	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.484000	0.28656	0.0:0.0:1.0:0.0	16.089	0.80891	447	0.79583	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.000000	0.012228	0.029240	0.000000	0.000000	0.012195	0.003788	0.05263	1129.83	36	chr16	22133009	.	G	A	1129.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.006;DP=786;ExcessHet=0.119;FS=0.655;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=-0.629;SOR=0.788	GT:AD:DP:GQ:PL	0/1:47,25:72:99:574,0,1221	17	0	2	0
chr16	22534048	22534059	ACCCTCAGCTCC	-	exonic	NPIPB5	.	nonframeshift deletion	NPIPB5:NM_001135865:exon7:c.1065_1076del:p.P359_A362del	.	501	975	46	0	0	46	0.0230461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0	0	0	0	0.0045	0	0	3.84e-05	1	26028	rs761773343	0.0030	0.0046	0.0029	0.0032	0.0158	0.0030	0.0029	0.0127	0.0115	0.0006	0.0019	0.0144	0.0002	0.0051	0.0158	0.0024	0.0037	0.0087	0.0051	0.0060	0.0051	0.0052	0.0165	0.0048	0.0046	0.0130	0.0117	0.0009	0	0.0049	0.0230	0	0.0040	0.0099	0.0068	0.0072	0.0165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	6813.75	42	chr16	22534047	.	TACCCTCAGCTCC	T	6813.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.76;DP=1871;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.91;MQRankSum=-2.016;QD=6.14;ReadPosRankSum=-1.195;SOR=0.649	GT:AD:DP:GQ:PL	0/1:264,84:348:99:2676,0,10725	16	0	3	0
chr16	23690925	23690925	G	C	exonic	ERN2	.	nonsynonymous SNV	ERN2:NM_001308220:exon21:c.C2531G:p.A844G,ERN2:NM_033266:exon22:c.C2687G:p.A896G	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.0362566802527	0.0061	0.00379393	0.0061	0.0006	0.0042	0	0.0008	0.0086	0.0033	0.0066	0.0061577	952	154602	rs56129167	0.0067	0.0067	0.0066	0.0067	0.0111	0.0066	0.0065	0.0089	0.0081	0.0013	0.0054	0.0025	5.038e-05	0.0011	0.0111	0.0076	0.0058	0.0057	0.0045	0.0045	0.0047	0.0042	0.0074	0.0042	0.0041	0.0068	0.0066	0.0012	0	0.0050	0.0037	0	0.0004	0.0068	0.0074	0.0052	0.0046	0.008	0.58626	D	0.008	0.67890	D	0.883	0.48537	P	0.696	0.54017	P	0.000008	0.62929	D	0.108387	0.999997	0.58761	D	2.56	0.74772	M	1.46	0.32238	T	-3.69	0.70432	D	0.331	0.55713	-0.6521	0.62622	T	0.163	0.49897	T	10	0.011900961	0.00258	T	0.036257	0.56875	D	0.256	0.56694	.	.	0.81614728916	0.81441	0.5763600142811136	0.57565	0.343511193933	0.36281	0.39019715786	0.23698	T	0.365229	0.73068	T	-0.460266	0.00979	T	-0.427943	0.30168	T	0.0691613059369251	0.08533	T	0.911209	0.71446	D	0.10167715	0.24019	0.25943178	0.51691	0.10167715	0.24019	0.25943178	0.51690	-11.167	0.80566	D	.	.	0.300	0.53017	B	.;.	.;.	3.287382	0.45070	22.1	0.96385354483013386	0.29634	0.99235	0.93223	D	AEFDBHCI	0.882883	0.81137	D	0.0809927769215171	0.45577	2.811882	-0.0374607007012318	0.38037	2.235413	0.99999957927638	0.74766	0.498214	0.20090	0	0.572659	0.20510	0	0.465395	0.07113	1	0.711	0.71501	0	.	.	5.22	3.25	0.36363	6.815000	0.75031	5.904000	0.50927	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.011000	0.09372	0.1529:0.0:0.8471:0.0	12.983	0.57974	365	0.84644	KEN domain|KEN domain|PUB domain;KEN domain|KEN domain|PUB 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	0.009577	0.005102	0.013587	0.008772	0.000000	0.008621	0.009146	0.003788	0.02632	1691.33	33	chr16	23690925	.	G	C	1691.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.049;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.09;SOR=0.719	GT:AD:DP:GQ:PL	0/1:64,65:129:99:1705,0,1876	18	0	1	0
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	533.97	122	chr16	29485668	.	C	*	533.97	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.51;DP=2515;ExcessHet=20.8569;FS=6.844;InbreedingCoeff=-0.7273;MLEAC=13;MLEAF=0.382;MQ=28.71;MQRankSum=-1.012;QD=0.28;ReadPosRankSum=-0.682;SOR=0.237	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,45:94:99:1|0:29485610_ACACACTC_A:2046,0,1536:29485610	5	0	12	2
chr16	29836833	29836833	G	C	exonic	MVP	.	nonsynonymous SNV	MVP:NM_001293204:exon6:c.G784C:p.D262H,MVP:NM_001293205:exon6:c.G784C:p.D262H,MVP:NM_005115:exon7:c.G784C:p.D262H,MVP:NM_017458:exon7:c.G784C:p.D262H	.	429	1084	9	0	0	9	0.00413413	.	.	.	740108	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.185	0.0440808734472	0.0005	0.000599042	0.0006	0	0.0002	0	0.0026	0.0004	0.0011	0.0017	0.0004851	75	154602	rs71389430	0.0004	0.0004	0.0004	0.0004	0.0018	0.0004	0.0004	0.0016	0.0015	2.987e-05	0.0002	0	0	0.0026	0.0010	0.0002	0.0003	0.0018	0.0004	0.0004	0.0003	0.0005	0.0023	0.0003	0.0003	0.0013	0.0010	0	0	6.539e-05	0	0	0.0021	0	0.0003	0	0.0023	0.004	0.65419	D	0.009	0.66756	D	0.988	0.62325	D	0.907	0.64423	P	0.000064	0.52346	D	0.166361	0.951925	0.26455	N	2.685	0.78553	M	1.42	0.33189	T	-4.88	0.81350	D	0.505	0.53708	-0.6276	0.63672	T	0.309	0.67976	T	10	0.028829008	0.01012	T	0.044081	0.61312	D	0.185	0.45933	.	.	0.510524285738	0.50692	0.6179824151050841	0.61731	1.06954850592	0.76764	0.533349871635	0.43506	T	0.681185	0.90640	D	-0.37547	0.03326	T	-0.325343	0.41985	T	0.222301111034934	0.21578	T	0.964804	0.86967	D	0.33799016	0.56118	0.353696	0.60926	0.33799016	0.56118	0.353696	0.60925	-5.201	0.38952	T	.	.	0.246	0.48458	B	.;.	.;.	4.838402	0.78968	27.0	0.94501661461393716	0.24976	0.74673	0.36535	D	AEFDGBHCI	0.305471	0.41288	N	0.372893029656634	0.59956	4.179755	0.418213334911759	0.62699	4.489865	0.999966619860341	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	2.796000	0.47562	11.552000	0.93185	0.662000	0.56354	0.980000	0.35271	1.000000	0.68203	0.752000	0.35857	0.0878:0.0:0.9122:0.0	10.604	0.44572	228	0.91137	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1337.33	34	chr16	29836833	.	G	C	1337.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.906;DP=789;ExcessHet=0;FS=0.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.646;SOR=0.602	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1351,0,1474	18	0	1	0
chr16	31135163	31135163	C	T	exonic	PRSS8	.	nonsynonymous SNV	PRSS8:NM_002773:exon2:c.G94A:p.G32R	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0457161766828	.	0.000399361	0.0006	0	0.0004	0	0	6.586e-05	0.0026	0.0042	0.0004786	74	154602	rs201632910	0.0003	0.0003	0.0001	0.0004	0.0038	0.0002	0.0002	0.0034	0.0033	0	0	0	0	0	0.0007	2.789e-05	0.0003	0.0038	0.0001	0.0001	3.854e-05	0.0002	0.0033	8.658e-05	7.251e-05	0.0021	0.0017	0	0	0	0	0	0	0	5.88e-05	0	0.0033	0.27	0.38863	T	0.337	0.18178	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	-3.07	0.92508	D	-0.31	0.26639	N	0.232	0.31027	-0.6257	0.63751	T	0.521	0.82134	D	9	0.0056170523	0.00125	T	0.045716	0.62114	D	0.295	0.61502	0.357	0.35897	0.765495324787	0.76335	0.43912331060736237	0.43829	0.33268649103	0.35316	0.32183688879	0.13699	T	0.145413	0.48253	T	-0.258376	0.13090	T	-0.144197	0.59753	T	0.0281861400887037	0.01715	T	0.489851	0.15873	T	0.06450218	0.13690	0.13430099	0.32185	0.06450218	0.13690	0.13430099	0.32184	-4.66	0.32917	T	.	.	0.140	0.46238	B	.;.;.	.;.;.	0.863629	0.12360	8.899	0.9193198713789773	0.21256	0.04443	0.10043	N	AEFDGBCIJ	0.113214	0.22348	N	-1.02980306332096	0.07989	0.3730694	-1.06886484405219	0.08319	0.4084892	0.999999717791207	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.504199	0.09095	0	0.613276	0.41899	0	.	.	3.78	0.481	0.16020	0.052000	0.14046	.	.	0.545000	0.25583	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.1903:0.5142:0.185:0.1105	2.560	0.04481	59	0.97452	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.007576	0.02632	897.33	34	chr16	31135163	.	C	T	897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.645;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.137;SOR=0.752	GT:AD:DP:GQ:PL	0/1:42,41:83:99:911,0,1080	18	0	1	0
chr16	50669118	50669118	A	G	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_153337:exon4:c.T313C:p.Y105H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00300890923964	.	.	5.021e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775853805	4.49e-06	8.904e-06	1.484e-06	7.546e-06	6.413e-05	1.62e-06	1.06e-06	2.473e-05	1.56e-05	0	0	0	0	0	0	9.788e-07	0	6.413e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.51952	T	0.26	0.04380	N	0.105	0.08925	-1.0079	0.27572	T	0.075	0.30303	T	8	0.046744525	0.03904	T	0.003009	0.06457	T	0.056	0.15993	0.142	0.04556	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.461988	0.00955	T	-0.705088	0.05552	T	0.0242726447613716	0.01180	T	.	.	.	.	.	.	.	.	.	.	.	-1.936	0.02949	T	.	.	.	.	.	.	.	0.168040	0.05572	2.031	0.21305222156409784	0.00806	0.00181	0.01060	N	AEFBHCI	0.018182	0.00532	N	-1.44978341585961	0.02218	0.09771435	-1.5702585569571	0.01840	0.08383224	0.999813033384949	0.43459	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.38	-2.28	0.06438	-0.030000	0.12257	0.108000	0.14741	-2.084000	0.00402	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.435:0.0:0.3459:0.2191	2.621	0.04619	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	1250.38	33	chr16	50669118	.	A	G	1250.38	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.51;DP=1657;ExcessHet=1.3;FS=136.809;InbreedingCoeff=-0.1517;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=1.48;ReadPosRankSum=0.795;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,39:205:35:0|1:50669118_A_G:35,0,5288:50669118	14	0	5	0
chr16	53464245	53464245	C	T	exonic	RBL2	.	nonsynonymous SNV	RBL2:NM_001323608:exon12:c.C1580T:p.A527V,RBL2:NM_001323609:exon12:c.C1580T:p.A527V,RBL2:NM_001323610:exon12:c.C1580T:p.A527V,RBL2:NM_001323611:exon12:c.C1358T:p.A453V,RBL2:NM_005611:exon12:c.C1580T:p.A527V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.0113194114885	0.0002	.	0.0002	9.694e-05	0	0.0001	0.0005	0.0002	0.0011	0.0001	0.0001552	24	154602	rs138843013	0.0001	0.0001	9.749e-05	0.0001	0.0005	0.0001	9.629e-05	0.0001	7.697e-05	6.29e-05	0.0002	0	2.592e-05	0.0005	0.0005	9.578e-05	0.0003	8.676e-05	0.0001	0.0001	8.994e-05	0.0001	0.0002	7.578e-05	6.283e-05	0.0001	8.876e-05	0	0	6.541e-05	0	0	0.0003	0	0.0002	0.0005	0	0.749	0.03598	T	1.0	0.01155	T	0.01	0.15535	B	0.005	0.11217	B	0.000001	0.84330	D	0.054564	0.952724	0.37797	D	-0.915	0.01320	N	-2.21	0.86963	D	2.63	0.00252	N	0.202	0.22357	-0.6514	0.62653	T	0.259	0.62988	T	10	0.096399575	0.17289	T	0.011319	0.28825	T	0.341	0.66297	.	.	0.307950594193	0.30395	0.09935254655208689	0.09866	0.221205106065	0.24664	0.466968357563	0.34265	T	0.137796	0.47093	T	-0.272319	0.11500	T	-0.322967	0.42248	T	0.0470634359362688	0.04976	T	0.812119	0.46368	T	0.07579741	0.17101	0.08541443	0.19720	0.07579741	0.17101	0.08541443	0.19720	-2.15	0.03805	T	.	.	0.085	0.12750	B	.;.	.;.	3.110726	0.41958	21.4	0.58318911876620361	0.05966	0.78779	0.38920	D	AEFDBI	0.334444	0.43321	N	-0.273988932208186	0.30156	1.678873	0.0211450143620675	0.40697	2.433042	0.999944975134049	0.47345	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.72	5.72	0.89380	5.974000	0.70160	7.628000	0.62604	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.8031:0.0:0.1969	7.483	0.26584	433	0.80627	Retinoblastoma-associated protein, A-box|Retinoblastoma-associated protein, A-box;Retinoblastoma-associated protein, A-box|Retinoblastoma-associated protein, A-box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	332.33	25	chr16	53464245	.	C	T	332.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.081;DP=573;ExcessHet=0;FS=2.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=1.01;SOR=1.053	GT:AD:DP:GQ:PL	0/1:19,15:34:99:346,0,452	18	0	1	0
chr16	53638394	53638396	AGG	-	exonic	RPGRIP1L	.	nonframeshift deletion	RPGRIP1L:NM_001308334:exon20:c.2974_2976del:p.P992del,RPGRIP1L:NM_015272:exon20:c.2974_2976del:p.P992del	COACH syndrome, Autosomal recessive;Joubert syndrome 7, Autosomal recessive;Meckel syndrome 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	979771	Joubert_syndrome|Meckel_syndrome,_type_5|Joubert_syndrome_7|COACH_syndrome_3|Meckel-Gruber_syndrome|not_provided|RPGRIP1L-related_disorder	MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561,Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560,Orphanet:220497|MONDO:MONDO:0030862,MedGen:C5436841,OMIM:619113|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MedGen:C3661900|MedGen:CN239416	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	1.507e-05	0	0.0012	0.0001294	20	154602	rs752076060	7.262e-05	8.557e-05	3.521e-05	0.0001	0.0007	6.094e-05	5.691e-05	0.0006	0.0005	0	0	3.874e-05	0	0	0	3.355e-05	5.099e-05	0.0007	3.949e-05	3.94e-05	1.286e-05	6.738e-05	0.0006	1.718e-05	1.131e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	4.418e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2279.29	35	chr16	53638393	.	CAGG	C	2279.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.355;DP=728;ExcessHet=0;FS=0.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.13;ReadPosRankSum=0.144;SOR=0.801	GT:AD:DP:GQ:PL	0/1:43,60:103:99:2293,0,1560	18	0	1	0
chr16	55849715	55849715	G	T	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon11:c.C1332A:p.D444E,CES5A:NM_001190158:exon12:c.C1419A:p.D473E	.	431	1074	15	2	0	19	0.00876788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0267763963323	0.0003	0.000798722	0.0011	0.0004	0.0026	0	0	0.0012	0.0022	0.0011	0.0010543	163	154602	rs181438833	0.0009	0.0009	0.0009	0.0010	0.0376	0.0009	0.0009	0.0335	0.0319	0.0007	0.0039	0.0005	5.038e-05	3.746e-05	0.0376	0.0006	0.0022	0.0009	0.0010	0.0010	0.0009	0.0012	0.0019	0.0009	0.0009	0.0014	0.0012	0.0003	0	0.0019	0.0003	0	0	0.0748	0.0011	0.0057	0.0008	0.125	0.28395	T	0.136	0.42794	T	0.856	0.47190	P	0.492	0.47401	P	0.085412	0.20643	N	0.413513	1	0.08975	N	1.65	0.42232	L	-0.21	0.66294	T	-2.02	0.51157	N	0.268	0.37509	-0.9206	0.45472	T	0.198	0.55272	T	10	0.0059216022	0.00133	T	0.026776	0.49657	D	0.109	0.30843	0.397	0.42426	0.0482279557977	0.04254	0.10762139173764923	0.10691	0.191555154566	0.21486	0.344490289688	0.17107	T	0.100386	0.67485	T	-0.445695	0.01197	T	-0.414143	0.31748	T	0.0392730489088655	0.03559	T	0.564644	0.20837	T	0.05933704	0.12046	0.07330105	0.15914	0.05933704	0.12046	0.07330105	0.15914	-3.494	0.19082	T	.	.	0.167	0.39477	B	.;.;.;.;.	.;.;.;.;.	2.649325	0.34491	19.64	0.99206065601331617	0.55442	0.06738	0.12760	N	AEFDBI	0.075762	0.15222	N	-0.274428242612552	0.30139	1.677769	-0.378485646956165	0.25640	1.411247	3.83341854043478E-4	0.06781	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.29	3.18	0.35615	0.061000	0.14242	0.595000	0.19862	0.676000	0.76740	0.000000	0.06391	0.060000	0.22018	0.962000	0.52141	0.184:0.0:0.6341:0.1819	4.286	0.10302	929	0.16858	.;.;Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.034240	0.050505	0.031250	0.067251	0.000000	0.060345	0.012195	0.003788	0.05263	3040.83	115	chr16	55849715	.	G	T	3040.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.67;DP=894;ExcessHet=0.119;FS=5.552;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.543;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,63:109:99:.:.:1632,0,1005:.	17	0	2	0
chr16	55852892	55852892	C	G	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon10:c.G1262C:p.R421P,CES5A:NM_145024:exon10:c.G1262C:p.R421P,CES5A:NM_001190158:exon11:c.G1349C:p.R450P	.	437	1068	15	1	1	18	0.00789596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.00758740576736	0.0007	0.000798722	0.0013	0.0004	0.0025	0	0	0.0015	0.0022	0.0018	0.0012613	195	154602	rs147727760	0.0010	0.0010	0.0010	0.0011	0.0353	0.0010	0.0010	0.0312	0.0297	0.0007	0.0039	0.0041	5.04e-05	3.746e-05	0.0353	0.0007	0.0024	0.0013	0.0011	0.0011	0.0010	0.0013	0.0019	0.0010	0.0009	0.0014	0.0012	0.0003	0	0.0019	0.0043	0	0	0.0685	0.0011	0.0057	0.0010	0.003	0.72154	D	0.008	0.67890	D	0.077	0.49324	B	0.076	0.51788	B	0.978265	0.08111	N	0.985983	0.999995	0.08975	N	3.99	0.96693	H	3.06	0.08634	T	-3.49	0.68056	D	0.468	0.50418	-0.9376	0.42994	T	0.064	0.26597	T	10	0.012463182	0.00268	T	0.007587	0.20139	T	0.229	0.52916	.	.	0.0401082797425	0.02173	0.7536031567397384	0.75307	0.243668225337	0.26869	0.228653237224	0.01870	T	0.444027	0.84784	T	-0.381525	0.03048	T	-0.322284	0.42324	T	0.130970427890295	0.15472	T	0.880912	0.66351	D	0.85855764	0.87977	0.8964487	0.94724	0.85855764	0.87978	0.8964487	0.94725	-11.884	0.84488	D	.	.	0.853	0.84963	P	.;.;.;.;.;.	.;.;.;.;.;.	1.864301	0.23680	16.11	0.95851265854640877	0.27992	0.07361	0.13381	N	AEFBI	0.219557	0.34443	N	-0.833271946106346	0.12465	0.6078047	-1.08622805862246	0.07971	0.3899093	0.00125429439532242	0.08381	0.487112	0.14033	0	0.55458	0.17659	0	0.023989	0.00149	3	0.564101	0.26826	0	.	.	5.41	-6.11	0.01950	-0.441000	0.06951	-2.593000	0.03570	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.258000	0.23468	0.0:0.7253:0.0:0.2747	15.763	0.77871	929	0.16858	.;.;.;Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.033300	0.050505	0.031250	0.067251	0.000000	0.051724	0.009202	0.003817	0.05263	2525.83	96	chr16	55852892	.	C	G	2525.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.113;DP=812;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=1.08;SOR=0.677	GT:AD:DP:GQ:PL	0/1:35,49:84:99:1240,0,813	17	0	2	0
chr16	56823768	56823768	C	T	exonic	NUP93	.	nonsynonymous SNV	NUP93:NM_001242795:exon6:c.C347T:p.T116M,NUP93:NM_001242796:exon6:c.C347T:p.T116M,NUP93:NM_014669:exon8:c.C716T:p.T239M	Nephrotic syndrome, type 12, Autosomal recessive	422	1098	2	0	0	2	0.000909918	.	.	.	726691	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.082	.	0.0063	0.00399361	0.0015	0.0161	0.0003	0.0002	0	0.0001	0.0011	0.0002	0.0014424	223	154602	rs35563991	0.0006	0.0006	0.0006	0.0005	0.0172	0.0005	0.0005	0.0160	0.0156	0.0172	0.0010	3.826e-05	7.557e-05	1.872e-05	0.0043	8.453e-05	0.0016	9.275e-05	0.0047	0.0047	0.0048	0.0046	0.0160	0.0044	0.0043	0.0150	0.0146	0.0160	0	0.0025	0.0003	0.0002	0	0	0.0001	0.0024	0	0.084	0.41637	T	0.107	0.52727	T	0.126	0.26920	B	0.004	0.10090	B	0.000806	0.41658	D	0.270733	1	0.08975	N	0.805	0.20218	L	0.9	0.45636	T	-0.95	0.27259	N	0.142	0.17553	-1.0694	0.09545	T	0.044	0.18783	T	10	0.008595228	0.00195	T	.	.	.	0.082	0.23913	.	.	0.420322003156	0.41653	0.1991894616993517	0.19835	0.418609216857	0.42446	0.29110378027	0.09084	T	0.034296	0.23266	T	-0.475742	0.00784	T	-0.442521	0.28526	T	0.018494827540003	0.00565	T	0.976402	0.92442	D	0.10169298	0.24022	0.07929216	0.17837	0.14078327	0.32467	0.07224693	0.15564	-5.824	0.44783	T	0.5384388759557863	0.60840	0.080	0.14155	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.080067	0.14631	11.19	0.96556911042911675	0.30243	0.13354	0.17808	N	AEFDBI	0.086427	0.17524	N	-0.743266611019479	0.14818	0.7413381	-0.739892662115819	0.15971	0.842624	0.999999836994759	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.62	3.61	0.40494	1.595000	0.36318	1.326000	0.25636	0.549000	0.26987	0.004000	0.16614	0.001000	0.17328	0.009000	0.08673	0.0:0.553:0.447:0.0	16.625	0.84821	494	0.76445	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.005051	0.009511	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	3522.33	33	chr16	56823768	.	C	T	3522.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=892;ExcessHet=0;FS=2.059;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-1.018;SOR=0.798	GT:AD:DP:GQ:PL	0/1:123,140:263:99:3536,0,2688	18	0	1	0
chr16	56942199	56942199	C	G	exonic	HERPUD1	.	nonsynonymous SNV	HERPUD1:NM_001010989:exon7:c.C970G:p.P324A,HERPUD1:NM_014685:exon7:c.C973G:p.P325A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0052	0.00519169	0.0017	0.0188	0.0010	0	0	1.499e-05	0	0.0001	0.0016817	260	154602	rs35721729	0.0005	0.0005	0.0006	0.0004	0.0187	0.0005	0.0005	0.0175	0.0170	0.0187	0.0007	3.826e-05	0	0	0.0007	2.068e-05	0.0012	5.797e-05	0.0055	0.0055	0.0061	0.0049	0.0192	0.0052	0.0051	0.0180	0.0176	0.0192	0	0.0021	0	0	0	0.0034	4.41e-05	0.0038	0	0.452	0.17069	T	0.249	0.37173	T	0.001	0.21686	B	0.003	0.19966	B	0.305236	0.03980	N	1.370100	0.999043	0.21681	N	0.895	0.22405	L	2.23	0.42888	T	-1.5	0.37375	N	0.354	0.41656	-1.0301	0.20422	T	0.046	0.19640	T	10	0.0036126077	0.00066	T	.	.	.	0.059	0.16972	.	.	0.312529679308	0.30857	0.33186606633402643	0.33099	0.192484092214	0.21576	0.225064575672	0.01623	T	0.137574	0.47059	T	-0.54949	0.00294	T	-0.545825	0.17729	T	0.0047126092861387	0.00050	T	0.849315	0.53201	T	0.058039058	0.11628	0.056990825	0.10282	0.058039058	0.11628	0.056990825	0.10282	-3.404	0.15890	T	.	.	0.056	0.00647	B	.;.;.;.	.;.;.;.	1.646812	0.21016	15.01	0.99102421233517335	0.52496	0.78648	0.38834	D	AEFDGBHCI	0.540099	0.55681	D	-0.709425362127152	0.15757	0.7968507	-0.63585378798996	0.18574	0.9928564	0.999999994972336	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.66	3.59	0.40253	1.591000	0.36275	3.986000	0.40947	0.599000	0.40250	0.213000	0.24458	0.294000	0.24182	0.575000	0.30772	0.0:0.8311:0.0:0.1689	10.562	0.44339	830	0.39242	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1116.33	33	chr16	56942199	.	C	G	1116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.507;DP=721;ExcessHet=0;FS=2.733;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-2.516;SOR=0.422	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1130,0,1169	18	0	1	0
chr16	57785567	57785567	T	C	exonic	KIFC3	.	nonsynonymous SNV	KIFC3:NM_001318711:exon3:c.A38G:p.Q13R	.	425	1090	6	1	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	.	0.0153754	0.0183	0	0.0217	0.0354	0	0.0008	0	0.0277	0.0026843	415	154602	rs117391586	0.0037	0.0029	0.0029	0.0044	0.0290	0.0036	0.0035	0.0273	0.0268	0.0003	0.0289	0.0009	0.0290	0.0192	0.0020	0.0003	0.0069	0.0282	0.0055	0.0055	0.0041	0.0069	0.0353	0.0052	0.0051	0.0310	0.0293	0.0006	0	0.0122	0.0014	0.0286	0.0224	0	0.0007	0.0090	0.0353	0.078	0.33923	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-1.79	0.49846	N	.	.	-0.9003	0.47962	T	0.138	0.45545	T	8	0.0025357008	0.00038	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042217	0.26110	T	-0.591504	0.00164	T	-0.598056	0.12975	T	0.00988657605430806	0.00131	T	0.557644	0.19406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.15115	B	.;.	.;.	2.202405	0.28093	17.68	0.99651737093133308	0.77317	0.73265	0.35840	D	AEFDBHCI	0.376662	0.46073	N	-0.261976542406361	0.30629	1.709569	-0.150478413643836	0.33391	1.909482	0.929879941433019	0.26985	0.562547	0.31514	0	0.573888	0.26702	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	4.74	2.47	0.29113	1.817000	0.38640	1.758000	0.28530	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.1983:0.0:0.8017	6.568	0.21722	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	367.33	34	chr16	57785567	.	T	C	367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.58;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.57;ReadPosRankSum=-0.112;SOR=0.627	GT:AD:DP:GQ:PL	0/1:46,20:66:99:381,0,1308	18	0	1	0
chr16	66579693	66579734	AGGACGGTAAGGAGCCATCGGACAAACCTCAAAAGGCGGTGC	-	exonic	CMTM2	.	nonframeshift deletion	CMTM2:NM_001199317:exon1:c.86_127del:p.G31_D44del,CMTM2:NM_144673:exon1:c.86_127del:p.G31_D44del	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.143e-05	0	0	0	0	6.037e-05	0	6.061e-05	3.84e-05	1	26028	rs778363435	2.463e-05	2.463e-05	1.634e-05	3.3e-05	0.0014	1.803e-05	1.6e-05	0.0007	0.0005	0	0	0	0	0	0.0014	1.529e-05	0.0001	4.637e-05	3.947e-05	3.942e-05	3.861e-05	4.036e-05	0.0004	1.717e-05	1.13e-05	7.301e-05	3.033e-05	2.418e-05	0	0	0	0	0	0	2.941e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2275.29	33	chr16	66579692	.	AAGGACGGTAAGGAGCCATCGGACAAACCTCAAAAGGCGGTGC	A	2275.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=920;ExcessHet=0;FS=0.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=1.49;SOR=0.634	GT:AD:DP:GQ:PL	0/1:106,62:168:99:2289,0,4172	18	0	1	0
chr16	67992160	67992160	C	T	exonic	DPEP2	.	nonsynonymous SNV	DPEP2:NM_001369657:exon3:c.G424A:p.D142N,DPEP2:NM_022355:exon4:c.G424A:p.D142N	.	432	1070	19	1	0	21	0.00971772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00164522888141	0.0029	0.00139776	0.0027	0.0008	0.0022	0	0.0036	0.0036	0.0044	0.0015	0.0025873	400	154602	rs142359415	0.0028	0.0028	0.0029	0.0028	0.0120	0.0028	0.0027	0.0097	0.0089	0.0005	0.0027	0.0013	0	0.0029	0.0120	0.0031	0.0031	0.0012	0.0029	0.0029	0.0030	0.0028	0.0046	0.0027	0.0026	0.0042	0.0040	0.0006	0.0011	0.0030	0.0009	0	0.0026	0.0170	0.0046	0.0071	0.0010	0.842	0.02796	T	1.0	0.01155	T	0.001	0.07471	B	0.021	0.19346	B	0.018869	0.27384	N	0.415390	0.804486	0.29075	N	0.79	0.19579	N	1.94	0.22678	T	0.14	0.05405	N	0.158	0.16447	-1.0618	0.11312	T	0.020	0.08453	T	10	0.005759686	0.00128	T	0.001645	0.02676	T	0.025	0.05312	.	.	0.226586394389	0.22295	0.4884905136714286	0.48769	.	.	0.316417008638	0.12878	T	0.015481	0.12979	T	-0.625547	0.00102	T	-0.666766	0.07817	T	0.00324620136449302	0.00034	T	0.737326	0.35372	T	0.067462735	0.14612	0.06642359	0.13606	0.067462735	0.14612	0.06642359	0.13605	-3.789	0.20640	T	.	.	0.098	0.29670	B	.;.;.	.;.;.	2.116266	0.26937	17.29	0.76792664957519874	0.11611	0.58015	0.30529	D	AEFDBI	0.149344	0.27342	N	-0.556688396367197	0.20274	1.067604	-0.418316006404348	0.24460	1.339529	0.999906740539098	0.45458	0.615465	0.37627	0	0.633656	0.55848	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	4.11	3.16	0.35406	1.049000	0.30001	1.061000	0.23721	-0.180000	0.10397	1.000000	0.71638	0.228000	0.23763	0.741000	0.35472	0.0:0.7844:0.0:0.2156	6.320	0.20419	10	0.99061	.;.;.	.	.	.	.	rs142359415	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015121	0.035354	0.010870	0.008772	0.000000	0.000000	0.024390	0.018939	0.05263	4850.83	37	chr16	67992160	.	C	T	4850.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.26;DP=916;ExcessHet=0.119;FS=1.914;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=0.305;SOR=0.81	GT:AD:DP:GQ:PL	0/1:76,108:184:99:2856,0,2005	17	0	2	0
chr16	70252837	70252837	C	T	exonic	AARS1	.	nonsynonymous SNV	AARS1:NM_001605:exon21:c.G2791A:p.G931S	.	0	1454	67	1	0	69	0.0231777	.	.	.	165489	not_specified|not_provided|Charcot-Marie-Tooth_disease_type_2|Charcot-Marie-Tooth_disease_axonal_type_2N	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287,Orphanet:228174	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.732	.	0.0076	0.00259585	0.0071	0.0012	0.0054	0	0.0024	0.0109	0.0099	0.0024	0.0072379	1119	154602	rs149377346	0.0092	0.0092	0.0091	0.0092	0.0281	0.0090	0.0090	0.0246	0.0232	0.0017	0.0064	0.0359	5.038e-05	0.0022	0.0281	0.0099	0.0103	0.0025	0.0071	0.0071	0.0076	0.0067	0.0098	0.0068	0.0066	0.0092	0.0089	0.0019	0.0296	0.0092	0.0274	0.0002	0.0019	0.0374	0.0098	0.0137	0.0037	0.206	0.19927	T	0.103	0.38305	T	0.991	0.64070	D	0.888	0.63021	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.55	0.93268	H	-2.02	0.85542	D	-5.05	0.82700	D	0.676	0.68342	0.547	0.91189	D	0.714	0.90177	D	10	0.014511377	0.00305	T	.	.	.	0.732	0.90633	.	.	0.906813178185	0.90588	0.8323583257319518	0.83194	0.670430016386	0.59412	0.784261286259	0.79572	T	0.687839	0.90896	D	-0.240134	0.15332	T	-0.107324	0.62825	T	0.0231731431537159	0.01044	T	0.964804	0.86967	D	0.5661112	0.70847	0.40947896	0.65236	0.64004415	0.74834	0.45679823	0.68429	-10.392	0.76224	D	0.31644635950522565	0.41449	0.726	0.74026	P	.	.	4.897967	0.80482	27.3	0.99840427238722196	0.92057	0.97261	0.73647	D	ALL	0.952292	0.96762	D	0.802417178059142	0.86256	8.827541	0.746874004952094	0.85922	8.727716	1.0	0.98316	0.716459	0.82106	0	0.697927	0.68747	0	0.73237	0.93354	0	0.691587	0.68394	0	.	.	5.36	5.36	0.76624	7.845000	0.85166	7.525000	0.59824	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:1.0:0.0:0.0	16.590	0.84614	152	0.94023	DHHA1 domain	.	.	.	.	rs149377346	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	0.020645	0.010101	0.031250	0.032164	0.000000	0.025862	0.009146	0.003788	0.05263	4800.83	33	chr16	70252837	.	C	T	4800.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.262;DP=964;ExcessHet=0.119;FS=4.071;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.404;SOR=0.565	GT:AD:DP:GQ:PL	0/1:76,104:180:99:2542,0,1790	17	0	2	0
chr16	72788822	72788822	T	A	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon9:c.A6712T:p.M2238L,ZFHX3:NM_006885:exon10:c.A9454T:p.M3152L	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.0061494660246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.188e-06	2.052e-06	0	4.458e-06	1.423e-05	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.339e-07	1.773e-05	1.423e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.006979	0.31682	N	0.212247	0.999494	0.47278	D	0	0.06538	N	-0.43	0.69657	T	0.73	0.02195	N	0.177	0.19055	-0.9092	0.46952	T	0.095	0.35818	T	10	0.115193754	0.21696	T	0.006149	0.16111	T	0.210	0.50028	0.146	0.04941	0.102598925029	0.09809	0.4049700985397388	0.40413	0.0869483166786	0.09809	0.648704648018	0.59802	T	0.069278	0.33668	T	-0.0262905	0.47954	T	-0.275541	0.47259	T	0.420694169184306	0.29716	T	0.756024	0.37907	T	0.22383627	0.45013	0.12761383	0.30716	0.22383627	0.45013	0.12761383	0.30715	-1.357	0.01496	T	.	.	0.102	0.18037	B	.;.;.	.;.;.	3.650322	0.51800	23.1	0.89397701998639656	0.18762	0.88852	0.48983	D	AEFDGBCIJ	.	.	.	-0.421443957178461	0.24719	1.336702	-0.109012581033826	0.35026	2.021548	0.999999999973661	0.74766	0.744818	0.98587	0	0.743671	0.97443	0	0.493711	0.08198	1	0.76194	0.99817	0	.	.	5.89	5.89	0.94758	4.381000	0.59354	6.232000	0.55228	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.308	0.82689	190	0.92594	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3913.33	35	chr16	72788822	.	T	A	3913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.904;DP=929;ExcessHet=0;FS=2.355;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.55;ReadPosRankSum=-1.771;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,104:211:99:0|1:72788814_C_T:3927,0,4115:72788814	18	0	1	0
chr16	72958417	72958417	C	T	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_006885:exon2:c.G1729A:p.V577I	.	409	1109	4	0	0	4	0.00180018	.	.	.	2338847	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.00930708754435	0.0012	0.000199681	0.0008	0.0004	0	0	0.0002	0.0011	0	0.0012	0.0006792	105	154602	rs62640001	0.0012	0.0012	0.0012	0.0012	0.0014	0.0012	0.0012	0.0013	0.0013	0.0003	0.0004	0.0024	0.0003	9.36e-05	0.0005	0.0014	0.0014	0.0006	0.0008	0.0008	0.0009	0.0006	0.0015	0.0007	0.0006	0.0010	0.0010	0.0003	0	0.0005	0.0017	0.0002	0	0	0.0012	0.0009	0.0015	0.027	0.46513	D	0.339	0.18071	T	0.001	0.07471	B	0.001	0.04355	B	0.012115	0.29287	N	0.155671	1	0.81001	D	0	0.06538	N	-0.81	0.73949	T	-0.64	0.18670	N	0.087	0.06454	-0.8787	0.49864	T	0.184	0.53209	T	10	0.01386869	0.00293	T	0.009307	0.24436	T	0.158	0.41098	.	.	0.158540857583	0.15491	0.15205028807213863	0.15127	0.0767623305117	0.08620	0.53450858593	0.43669	T	0.079993	0.36259	T	-0.530053	0.00384	T	-0.574694	0.15021	T	0.00677283953156592	0.00076	T	0.661834	0.27067	T	0.066652246	0.14361	0.07268975	0.15711	0.066652246	0.14361	0.07268975	0.15711	-4.274	0.27811	T	.	.	0.081	0.08033	B	.;.	.;.	1.744537	0.22197	15.52	0.92482147291841899	0.21913	0.83292	0.42421	D	AEFDBI	0.153939	0.27888	N	-0.257775362820879	0.30793	1.720406	-0.0699332887635896	0.36639	2.134866	0.999505197672724	0.40062	0.562547	0.31514	0	0.546412	0.12157	0	0.578056	0.29568	0	0.635551	0.53088	0	.	.	5.04	4.09	0.47038	1.638000	0.36780	1.440000	0.26519	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	1.000000	0.97212	0.1506:0.6945:0.0:0.1549	6.162	0.19584	668	0.61153	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2120.33	73	chr16	72958417	.	C	T	2120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=1192;ExcessHet=0;FS=2.208;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=0.051;SOR=0.9	GT:AD:DP:GQ:PL	0/1:60,75:135:99:2134,0,1509	18	0	1	0
chr16	77325911	77325911	A	G	exonic	ADAMTS18	.	nonsynonymous SNV	ADAMTS18:NM_001326358:exon13:c.T1471C:p.F491L,ADAMTS18:NM_199355:exon13:c.T1987C:p.F663L	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.316	0.0142958751276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.947	0.53479	P	0.878	0.62312	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.06	0.86941	M	3.44	0.05375	T	-5.62	0.86758	D	0.796	0.79214	-1.2158	0.00066	T	0.050	0.21104	T	10	0.7622303	0.76434	D	0.014296	0.34324	T	0.316	0.63799	0.434	0.48500	0.572106025898	0.56878	0.7464956366615013	0.74595	.	.	0.726357877254	0.70974	T	0.160856	0.50487	T	0.102877	0.64601	D	-0.090001	0.64162	T	0.995196282863617	0.86995	D	0.972453	0.90064	D	0.74087036	0.80342	0.70502734	0.82612	0.74087036	0.80344	0.70502734	0.82613	-10.384	0.76178	D	.	.	0.996	0.95780	P	.	.	5.006881	0.83121	28.0	0.99915719953452664	0.98379	0.99289	0.94010	D	AEFI	0.922517	0.89762	D	0.749055102769343	0.82844	7.864004	0.782240955505612	0.88531	9.61769	0.999999999863477	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	5.99	5.99	0.97299	9.325000	0.96006	11.279000	0.91668	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.675	0.77072	771	0.49057	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2493.33	34	chr16	77325911	.	A	G	2493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.465;DP=811;ExcessHet=0;FS=3.367;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=1.69;SOR=0.595	GT:AD:DP:GQ:PL	0/1:84,101:185:99:2507,0,2178	18	0	1	0
chr16	83899350	83899350	C	T	exonic	MLYCD	.	nonsynonymous SNV	MLYCD:NM_012213:exon1:c.C206T:p.A69V	Malonyl-CoA decarboxylase deficiency, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	247120	not_provided|MLYCD-related_disorder|not_specified|Deficiency_of_malonyl-CoA_decarboxylase	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0009556,MedGen:C0342793,OMIM:248360,Orphanet:943	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.590	.	0.0032	0.000798722	0.0075	0	0.0185	0	0	0.0203	0	0.0001	0.0033247	514	154602	rs200579941	0.0034	0.0033	0.0034	0.0033	0.0044	0.0033	0.0032	0.0032	0.0031	0.0006	0.0024	0.0284	0	0.0003	0.0044	0.0033	0.0044	0.0003	0.0028	0.0028	0.0030	0.0026	0.0037	0.0026	0.0025	0.0033	0.0032	0.0006	0.0066	0.0017	0.0289	0	0.0005	0.0103	0.0037	0.0033	0.0002	0.168	0.23007	T	0.595	0.08079	T	0.685	0.41537	P	0.036	0.22909	B	0.001493	0.38855	N	0.244160	0.97088	0.38830	D	1.95	0.52479	M	-3.42	0.94348	D	-0.47	0.15178	N	0.778	0.77507	0.453	0.89877	D	0.705	0.89856	D	10	0.0071632266	0.00163	T	.	.	.	0.590	0.83636	.	.	0.936542578583	0.93588	0.2616706831724817	0.26080	1.20683058914	0.80723	0.912121415138	0.97667	D	0.100087	0.40554	T	0.0336871	0.56213	T	0.272562	0.86715	D	0.0523209546592648	0.05903	T	0.525947	0.17303	T	0.098773204	0.23301	0.15823261	0.36960	0.09376129	0.22029	0.18244977	0.41172	-5.555	0.42379	T	0.09975837277396712	0.07282	0.108	0.20625	B	.	.	3.090124	0.41606	21.4	0.99631057744544682	0.76020	0.77110	0.37878	D	AEFDBHCIJ	0.177773	0.30502	N	0.0155385130390293	0.42563	2.566802	0.0765228260236064	0.43369	2.640208	0.999999999999941	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.25	4.25	0.49658	1.861000	0.39078	4.381000	0.43181	0.437000	0.21030	0.980000	0.35271	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	15.997	0.80055	951	0.11083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008910	0.005618	0.008380	0.000000	0.000000	0.008772	0.015823	0.015267	0.02632	1313.33	34	chr16	83899350	.	C	T	1313.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.462;DP=733;ExcessHet=0;FS=2.563;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=1.05;SOR=0.473	GT:AD:DP:GQ:PL	0/1:48,57:105:99:1327,0,1087	18	0	1	0
chr16	88430811	88430811	G	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G3341T:p.R1114L	Brittle cornea syndrome 1, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	486161	Ehlers-Danlos_syndrome|Cardiovascular_phenotype|ZNF469-related_disorder|not_provided|Brittle_cornea_syndrome_1|not_specified	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:CN230736|.|MedGen:C3661900|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.059	0.532799994383	.	0.000599042	0.0035	0	0	0	.	0.0053	0	0.0032	0.0020569	318	154602	rs568046708	0.0025	0.0024	0.0023	0.0027	0.0029	0.0024	0.0024	0.0026	0.0025	0.0003	0.0009	0.0054	0	0.0009	0.0018	0.0027	0.0026	0.0029	0.0021	0.0021	0.0021	0.0021	0.0028	0.0019	0.0018	0.0025	0.0023	0.0004	0.0515	0.0013	0.0075	0.0002	0.0009	0	0.0028	0.0009	0.0025	0.008	0.58626	D	0.054	0.47097	T	.	.	.	.	.	.	.	.	.	.	0.989827	0.24249	N	.	.	.	1.49	0.31470	T	-2.47	0.53898	N	0.203	0.29544	-1.0646	0.10642	T	0.069	0.28113	T	9	0.00663656	0.00150	T	0.533	0.95613	D	0.059	0.16972	.	.	0.395441342475	0.39163	0.04776889549115124	0.04719	.	.	0.365535974503	0.20189	T	0.026947	0.19836	T	-0.494235	0.00616	T	-0.484817	0.23935	T	0.0413275450727463	0.03930	T	0.620638	0.23835	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.55424	B	.;.	.;.	1.725826	0.21966	15.43	0.65801537723507486	0.07876	0.94636	0.61815	D	ALL	0.273823	0.38915	N	-0.439363956195326	0.24103	1.299055	-0.59336187514869	0.19665	1.056116	0.999999997867319	0.74766	0.443343	0.08805	1	0.166054	0.03914	2	0.666236	0.60216	0	0.249971	0.05119	0	.	.	4.35	2.34	0.28071	0.325000	0.19374	0.245000	0.16356	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.098:0.1746:0.7274:0.0	6.980	0.23880	.	.	.;.	.	.	.	.	.	Likely benign	0	0	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	0.003947	0.006849	0.000000	0.000000	0.000000	0.000000	0.013699	0.000000	0.02632	839.33	46	chr16	88430811	.	G	T	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.522;DP=889;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.85;SOR=0.704	GT:AD:DP:GQ:PL	0/1:39,35:74:99:853,0,927	18	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	5800.48	202	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	5800.48	.	AC=25;AF=0.694;AN=36;DP=3235;ExcessHet=0.004;FS=0;InbreedingCoeff=0.5476;MLEAC=26;MLEAF=0.722;MQ=59.7;MQRankSum=-0.138;QD=3.33;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,125:125:99:.:.:4383,398,0:.	3	10	5	1
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7941	2221.85	202	chr17	4933915	.	A	*	2221.85	.	AC=27;AF=0.794;AN=34;BaseQRankSum=1.15;DP=3213;ExcessHet=0.1688;FS=0;InbreedingCoeff=0.103;MLEAC=29;MLEAF=0.853;MQ=59.38;MQRankSum=-0.322;QD=1.2;ReadPosRankSum=2.42;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,125:125:99:.:.:4383,398,0:.	1	11	5	2
chr17	6707135	6707135	T	C	exonic	SLC13A5	.	nonsynonymous SNV	SLC13A5:NM_001143838:exon2:c.A124G:p.I42V,SLC13A5:NM_001284509:exon2:c.A124G:p.I42V,SLC13A5:NM_177550:exon2:c.A124G:p.I42V	Epileptic encephalopathy, early infantile, 25, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0115125430183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.21304	T	0.31	0.25210	T	0.329	0.33227	B	0.437	0.45591	B	0.000000	0.84330	N	0.085895	0.998017	0.81001	D	1.19	0.30124	L	4.04	0.03121	T	-0.62	0.18248	N	0.321	0.38848	-0.8519	0.51837	T	0.013	0.04985	T	10	0.15944508	0.29958	T	0.011513	0.29207	T	0.134	0.36365	0.522	0.62518	0.313210971179	0.30940	0.42086618264418346	0.42002	0.2501032942	0.27591	0.424964904785	0.28520	T	0.109445	0.42332	T	-0.169951	0.25242	T	-0.4819	0.24244	T	0.407440274953842	0.29222	T	0.816518	0.47426	T	0.09399844	0.22091	0.11753781	0.28373	0.09399844	0.22091	0.11753781	0.28372	-4.2	0.28414	T	0.18332288541525327	0.23726	0.096	0.31532	B	.;.;.	.;.;.	2.352183	0.30154	18.35	0.94365882124775891	0.24726	0.80044	0.39789	D	AEFDBCI	0.369692	0.45633	N	-0.322972037126395	0.28278	1.558384	-0.194155532616306	0.31751	1.799816	0.215747925061085	0.18295	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.4	3.15	0.35301	2.593000	0.45845	0.594000	0.19852	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0801:0.151:0.769	6.904	0.23478	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	429.79	198	chr17	6707135	.	T	C	429.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.724;DP=1321;ExcessHet=0.3672;FS=110.264;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=1.84;SOR=9.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,32:137:99:0|1:6707135_T_C:153,0,2923:6707135	16	0	3	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	3208.72	145	chr17	6800775	.	C	G	3208.72	.	AC=9;AF=0.3;AN=30;BaseQRankSum=-1.731;DP=2621;ExcessHet=5.3738;FS=198.068;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=1.15;SOR=12.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,69:155:99:.:.:939,0,987:.	6	0	9	4
chr17	6800776	6800776	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1020C:p.E340D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.028278372682	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.098481	0.983136	0.42247	D	3.525	0.93020	H	2.96	0.09542	T	-2.88	0.60507	D	0.808	0.80375	-0.9824	0.34445	T	0.107	0.39051	T	10	0.95349437	0.94696	D	0.028278	0.50978	D	0.326	0.64826	0.877	0.96683	0.497481867153	0.49385	0.6113345721572323	0.61065	0.419681481569	0.42513	0.529784560204	0.43004	T	0.202368	0.56052	T	0.124774	0.66848	D	-0.0585471	0.66434	T	0.995554625988007	0.87638	D	0.840516	0.51562	T	0.7195699	0.79137	0.5731973	0.75279	0.7195699	0.79139	0.5731973	0.75280	-8.963	0.67458	D	.	.	0.829	0.78671	P	.	.	3.572194	0.50313	22.9	0.9983085278040047	0.91284	0.84486	0.43568	D	AEFDBHCI	0.220516	0.34526	N	0.55574673951639	0.70432	5.500766	0.423949101341838	0.63059	4.532556	0.999819604160299	0.43459	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.8	0.31881	1.605000	0.36426	0.787000	0.21533	0.599000	0.40250	1.000000	0.71638	0.338000	0.24408	0.976000	0.56436	0.0:0.6876:0.0:0.3124	8.074	0.29869	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1562	914.16	145	chr17	6800776	.	C	G	914.16	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-3.841;DP=2249;ExcessHet=2.0135;FS=154.748;InbreedingCoeff=-0.2489;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.72;SOR=10.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,14:149:65:.:.:65,0,2680:.	11	0	5	3
chr17	10451358	10451358	G	A	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon28:c.C3833T:p.S1278L	.	437	1073	12	0	0	12	0.0055607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.0250080218731	0.0003	0.000998403	0.0009	0.0002	0.0002	0	0	0.0005	0.0044	0.0043	0.0007762	120	154602	rs145453135	0.0007	0.0007	0.0005	0.0008	0.0042	0.0006	0.0006	0.0039	0.0037	5.974e-05	8.949e-05	7.663e-05	2.52e-05	0	0.0031	0.0005	0.0008	0.0042	0.0005	0.0005	0.0004	0.0006	0.0056	0.0004	0.0004	0.0040	0.0034	9.623e-05	0	0	0	0	9.416e-05	0.0034	0.0006	0.0005	0.0056	0.002	0.72154	D	0.132	0.34477	T	0.019	0.17989	B	0.032	0.22131	B	0.651406	0.10509	U	0.725538	0.999973	0.18612	N	2.295	0.65404	M	-1.17	0.78199	T	-2.56	0.55339	D	0.381	0.42247	-0.5019	0.68582	T	0.448	0.78348	T	10	0.008505881	0.00193	T	0.025008	0.47992	D	0.346	0.66769	.	.	0.796884379247	0.79499	0.15152543263563856	0.15074	0.16406042918	0.18510	0.474094808102	0.35243	T	0.469485	0.80300	T	-0.373122	0.03439	T	-0.308885	0.43778	T	0.0573092977570532	0.06739	T	0.89801	0.64352	D	0.19731736	0.41592	0.31166255	0.57172	0.19731736	0.41592	0.31166255	0.57171	-7.558	0.58017	D	.	.	0.088	0.11797	B	.	.	4.014388	0.59245	24.1	0.99807052912013572	0.89085	0.22646	0.21816	N	AEFI	0.209701	0.33565	N	-0.161371435633514	0.34751	1.987468	-0.0952495380354962	0.35586	2.060597	1.66813247063777E-4	0.05721	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	-0.109000	0.10810	8.601000	0.77727	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.7495:0.2505	13.971	0.63755	90	0.96275	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.05263	2847.81	33	chr17	10451358	.	G	A	2847.81	.	AC=2;AF=0.053;AN=38;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.62;SOR=0.804	GT:AD:DP:GQ:PL	1/1:0,93:93:99:2875,279,0	18	1	0	0
chr17	15613653	15613653	C	T	exonic	CDRT1	.	nonsynonymous SNV	CDRT1:NM_001282540:exon4:c.G961A:p.A321T,CDRT1:NM_006382:exon4:c.G961A:p.A321T	.	440	1081	1	0	0	1	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0062551217477	.	.	9.5e-06	0	0	0	0	0	0	6.404e-05	3.84e-05	1	26028	rs754777026	3.445e-06	4.104e-06	2.741e-06	4.157e-06	0.0004	1.01e-06	7.3e-07	6.545e-05	2.652e-05	0	0	0	0	0	0.0004	9.024e-07	1.67e-05	1.185e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.10588	T	0.58	0.10501	T	0.013	0.16609	B	0.003	0.08700	B	0.929407	0.07526	N	1.046170	1	0.08975	N	0.095	0.08423	N	1.56	0.29602	T	-0.44	0.14588	N	0.096	0.14054	-0.9786	0.35322	T	0.043	0.18285	T	10	0.051006705	0.04916	T	0.006255	0.16406	T	0.058	0.16647	0.524	0.62818	0.0138822411134	0.00435	0.10579767987263887	0.10509	.	.	0.239750534296	0.02768	T	8.42E-4	0.00419	T	-0.324288	0.06553	T	-0.60065	0.12758	T	0.0279001226925331	0.01674	T	0.560444	0.23025	T	0.016573371	0.00207	0.0439408	0.05582	0.016573371	0.00207	0.0439408	0.05581	-2.072	0.03465	T	.	.	0.073	0.23219	B	.;.;.	.;.;.	-0.110894	0.03578	0.695	0.5929816715631796	0.06192	0.00282	0.01521	N	AEFGI	0.020791	0.00856	N	-1.02450014896335	0.08098	0.3784899	-0.998684015964709	0.09815	0.4905022	1.81134339661278E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.34	2.86	0.32427	0.198000	0.17018	-0.710000	0.07754	-0.259000	0.06933	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.1088:0.1721:0.7191	5.252	0.14843	772	0.48957	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2068.33	33	chr17	15613653	.	C	T	2068.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.99;DP=792;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.79;MQRankSum=-0.998;QD=13.79;ReadPosRankSum=0.438;SOR=0.687	GT:AD:DP:GQ:PL	0/1:69,81:150:99:2082,0,1812	18	0	1	0
chr17	15636073	15636073	C	G	exonic	TRIM16	.	nonsynonymous SNV	TRIM16:NM_001348121:exon5:c.G422C:p.R141T,TRIM16:NM_001348122:exon5:c.G422C:p.R141T,TRIM16:NM_001348126:exon6:c.G326C:p.R109T,TRIM16:NM_006470:exon6:c.G812C:p.R271T,TRIM16:NM_001348120:exon7:c.G812C:p.R271T,TRIM16:NM_001348124:exon8:c.G164C:p.R55T,TRIM16:NM_001348125:exon8:c.G164C:p.R55T,TRIM16:NM_001348119:exon9:c.G812C:p.R271T	.	421	1096	5	0	0	5	0.00227583	.	.	.	2814976	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.040	.	.	.	0.0108	0.0018	0.0080	0.0391	0.0062	0.0072	0.0045	0.0219	0.0111124	1718	154602	rs142902437	0.0003	0.0026	0.0003	0.0003	0.0020	0.0003	0.0003	0.0017	0.0015	0.0003	0.0002	0.0002	0.0020	0.0007	0	0.0002	0.0003	0.0011	0.0017	0.0055	0.0018	0.0016	0.0072	0.0015	0.0014	0.0052	0.0046	0.0007	0	0.0014	0.0006	0.0072	0.0012	0	0.0019	0.0010	0.0045	0.068	0.35726	T	0.022	0.57587	D	0.007	0.14184	B	0.011	0.15521	B	0.000075	0.52346	U	0.127194	0.996586	0.22968	N	2.19	0.61577	M	0.31	0.66834	T	-2.74	0.58248	D	0.093	0.34336	-0.8797	0.49786	T	0.191	0.54345	T	10	0.0040765405	0.00080	T	.	.	.	0.054	0.15330	.	.	.	.	0.335178000122452	0.33430	0.40539797669	0.41440	0.333759605885	0.15501	T	0.075344	0.35154	T	-0.352267	0.04586	T	-0.380751	0.35634	T	0.0196647825029475	0.00669	T	0.568143	0.20320	T	0.09388597	0.22060	0.08176437	0.18607	0.09388597	0.22060	0.08176437	0.18607	-4.312	0.28344	T	.	.	0.327	0.55039	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	0.885814	0.12589	9.119	0.293871150753654	0.01556	0.11249	0.16508	N	AEFGBHI	0.122829	0.23815	N	-0.861289901193496	0.11774	0.5700241	-0.948779146322556	0.10951	0.554927	0.0665572100857383	0.15397	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.97	0.777	0.17682	0.263000	0.18247	0.692000	0.20773	-1.689000	0.00774	0.123000	0.23227	0.163000	0.23278	0.028000	0.12845	0.0:0.6544:0.1581:0.1875	5.914	0.18285	809	0.43032	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.013951	0.005952	0.012329	0.004237	0.000000	0.000000	0.019737	0.016393	0.02632	116.33	35	chr17	15636073	.	C	G	116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.335;DP=778;ExcessHet=0;FS=20.429;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.82;MQRankSum=-9.413;QD=0.88;ReadPosRankSum=0.544;SOR=2.123	GT:AD:DP:GQ:PL	0/1:115,17:132:99:130,0,3407	18	0	1	0
chr17	27647035	27647035	G	T	exonic	LGALS9	.	nonsynonymous SNV	LGALS9:NM_001330163:exon8:c.G579T:p.M193I,LGALS9:NM_002308:exon8:c.G579T:p.M193I,LGALS9:NM_009587:exon9:c.G675T:p.M225I	.	434	1034	53	1	0	55	0.0259067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0028	0.00858626	0.0070	0.0003	0.0029	0.0001	0.0024	0.0043	0.0077	0.0308	0.00641	991	154602	rs61736863	0.0047	0.0047	0.0036	0.0057	0.0307	0.0046	0.0045	0.0298	0.0294	0.0006	0.0030	0.0015	5.038e-05	0.0026	0.0243	0.0030	0.0052	0.0307	0.0037	0.0037	0.0032	0.0042	0.0338	0.0035	0.0034	0.0296	0.0280	0.0006	0	0.0033	0.0014	0	0.0028	0.0204	0.0041	0.0057	0.0338	1.0	0.03787	T	0.515	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.705616	0.10057	N	0.874683	1	0.08975	N	0.805	0.20218	L	2.88	0.10291	T	-0.92	0.30555	N	0.087	0.10198	-0.9379	0.42947	T	0.014	0.05561	T	10	0.007870913	0.00179	T	.	.	.	0.025	0.05312	0.396	0.42262	0.117506650769	0.11410	0.21356275858387824	0.21272	0.428623133953	0.43178	0.377718806267	0.21933	T	0.057428	0.30565	T	-0.608484	0.00129	T	-0.623824	0.10888	T	0.00143451320405818	0.00014	T	0.717128	0.38135	T	0.24168785	0.47088	0.09407839	0.22253	0.24168785	0.47088	0.09407839	0.22252	-3.734	0.19821	T	.	.	0.213	0.49903	B	.;.;.;.;.	.;.;.;.;.	0.027789	0.04477	1.192	0.7052755038938161	0.09325	0.04884	0.10627	N	AEFDBI	0.042672	0.06650	N	-1.07995783123573	0.07013	0.324544	-1.1025804986439	0.07651	0.3729923	0.189229202955983	0.17978	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.31	-2.32	0.06360	-0.410000	0.07214	-2.454000	0.03734	0.612000	0.49041	0.191000	0.24200	0.000000	0.08366	0.026000	0.12556	0.5182:0.0:0.299:0.1828	3.724	0.07996	253	0.90069	Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016060	0.005208	0.008152	0.033058	0.062500	0.000000	0.031646	0.026718	0.02632	3962.33	34	chr17	27647035	.	G	T	3962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.059;DP=967;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.92;MQRankSum=0.993;QD=13.12;ReadPosRankSum=-0.649;SOR=0.699	GT:AD:DP:GQ:PL	0/1:153,149:302:99:3976,0,4126	18	0	1	0
chr17	30053395	30053395	C	G	exonic	EFCAB5	.	nonsynonymous SNV	EFCAB5:NM_001145053:exon10:c.C1273G:p.Q425E,EFCAB5:NM_198529:exon10:c.C1441G:p.Q481E	.	421	1096	5	0	0	5	0.00227583	.	.	.	3202243	EFCAB5-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.124	.	0.0067	0.00838658	0.0025	0.0194	0.0033	0	0	0.0010	0.0033	0.0003	0.0024644	381	154602	rs116666354	0.0012	0.0012	0.0013	0.0012	0.0210	0.0012	0.0012	0.0197	0.0192	0.0210	0.0032	0.0069	0	3.745e-05	0.0078	0.0005	0.0030	0.0003	0.0071	0.0071	0.0076	0.0067	0.0225	0.0068	0.0066	0.0213	0.0208	0.0225	0	0.0046	0.0084	0	0	0.0137	0.0005	0.0076	0.0004	0.968	0.02061	T	0.343	0.17857	T	0.397	0.34783	B	0.188	0.36237	B	0.894948	0.07319	N	1.063850	1	0.08975	N	0.55	0.14455	N	1.12	0.38718	T	-0.27	0.15782	N	0.146	0.22742	-1.0079	0.27572	T	0.037	0.15856	T	10	0.0040712655	0.00080	T	.	.	.	0.124	0.34239	.	.	0.405979908929	0.40213	0.20765166597981338	0.20681	0.115859512143	0.13070	0.341962754726	0.16732	T	0.00197	0.01384	T	-0.598211	0.00150	T	-0.615145	0.11572	T	0.00842134865645049	0.00102	T	0.621038	0.23867	T	0.092178434	0.21617	0.09624397	0.22860	0.092178434	0.21617	0.09624397	0.22859	-2.759	0.07812	T	.	.	0.066	0.04041	B	.;.;.	.;.;.	0.585733	0.09544	6.318	0.46269190595261023	0.03693	0.12358	0.17220	N	AEFGBI	0.115253	0.22668	N	-0.589434793974229	0.19263	1.006876	-0.560268594600865	0.20533	1.106708	0.00159163558772395	0.08681	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.18	4.15	0.47978	-0.750000	0.04913	0.720000	0.21004	0.530000	0.24713	0.000000	0.06391	0.001000	0.17328	0.974000	0.55675	0.1781:0.8219:0.0:0.0	11.550	0.49966	813	0.42397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.015152	0.021739	0.008772	0.000000	0.000000	0.003049	0.003788	0.02632	2134.33	34	chr17	30053395	.	C	G	2134.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.334;DP=811;ExcessHet=0;FS=4.302;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-0.194;SOR=0.435	GT:AD:DP:GQ:PL	0/1:96,87:183:99:2148,0,2774	18	0	1	0
chr17	30090548	30090548	G	A	exonic	EFCAB5	.	nonsynonymous SNV	EFCAB5:NM_198529:exon20:c.G3811A:p.G1271S	.	425	1089	8	0	0	8	0.00365965	.	.	.	3198748	EFCAB5-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.355	0.0364205880243	0.0022	0.00259585	0.0012	0.0048	0.0027	0	0	0.0009	0.0033	0.0004	0.0012225	189	154602	rs140949092	0.0008	0.0008	0.0008	0.0008	0.0064	0.0008	0.0008	0.0055	0.0052	0.0062	0.0025	0.0069	0	3.746e-05	0.0064	0.0004	0.0021	0.0004	0.0025	0.0025	0.0028	0.0023	0.0066	0.0023	0.0022	0.0059	0.0057	0.0066	0	0.0029	0.0084	0	0	0.0034	0.0004	0.0052	0.0004	0.007	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.973	0.72923	D	0.000001	0.84330	D	0.000000	0.972053	0.81001	D	2.75	0.80375	M	2.31	0.16794	T	-4.29	0.76414	D	0.679	0.68603	-1.0270	0.21429	T	0.084	0.32900	T	10	0.005948633	0.00133	T	0.036421	0.56977	D	0.355	0.67600	.	.	0.54249775568	0.53903	0.5211032427398486	0.52033	0.484217106515	0.47341	0.489918738604	0.37426	T	0.21642	0.57857	T	-0.27691	0.10998	T	-0.16751	0.57670	T	0.0189439260601799	0.00604	T	0.831417	0.49863	T	0.40156692	0.60841	0.3700871	0.62265	0.40156692	0.60841	0.3700871	0.62265	-7.139	0.55042	T	.	.	0.247	0.48209	B	.;.	.;.	4.870869	0.79790	27.2	0.99819780516052048	0.90238	0.92052	0.54838	D	AEFBI	0.684444	0.64678	D	0.617539672603999	0.74282	6.106545	0.542312004095132	0.70863	5.56835	0.996014145800932	0.34469	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.45	4.47	0.53770	4.468000	0.59896	6.641000	0.56184	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.317000	0.24900	0.0756:0.0:0.9244:0.0	13.716	0.62178	814	0.42100	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.015152	0.019022	0.005848	0.000000	0.000000	0.003049	0.003788	0.02632	1386.33	33	chr17	30090548	.	G	A	1386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=730;ExcessHet=0;FS=1.547;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.003;SOR=0.627	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1400,0,1158	18	0	1	0
chr17	30185021	30185021	G	A	exonic	NSRP1	.	nonsynonymous SNV	NSRP1:NM_001261467:exon6:c.G862A:p.D288N,NSRP1:NM_032141:exon7:c.G1024A:p.D342N	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0180899245274	0.0023	0.00259585	0.0012	0.0050	0.0026	0	0	0.0009	0.0033	0.0002	0.0012484	193	154602	rs117171982	0.0008	0.0008	0.0008	0.0008	0.0064	0.0007	0.0007	0.0054	0.0051	0.0061	0.0024	0.0069	0	3.744e-05	0.0064	0.0004	0.0020	0.0003	0.0025	0.0025	0.0027	0.0023	0.0066	0.0023	0.0022	0.0059	0.0057	0.0066	0	0.0028	0.0084	0	0	0.0034	0.0004	0.0052	0.0004	0.006	0.61437	D	0.033	0.53788	D	0.799	0.44910	P	0.252	0.39069	B	0.000924	0.41028	D	0.235400	0.85171	0.28487	N	2.52	0.73523	M	0.84	0.47477	T	-0.9	0.24244	N	0.124	0.12055	-0.9984	0.30367	T	0.086	0.33494	T	10	0.0055503547	0.00123	T	0.01809	0.40035	T	0.115	0.32236	.	.	0.549332950052	0.54590	0.0354131515527406	0.03488	0.157132550826	0.17747	0.302140235901	0.10720	T	0.103263	0.41174	T	-0.572061	0.00215	T	-0.591474	0.13538	T	0.023566489899849	0.01091	T	0.679332	0.28809	T	0.062025674	0.12910	0.052379888	0.08618	0.062025674	0.12909	0.052379888	0.08617	-5.336	0.40298	T	.	.	0.097	0.35705	B	.;.	.;.	2.638352	0.34328	19.60	0.99807743995269516	0.89174	0.96224	0.68106	D	AEFBI	0.301102	0.40971	N	0.210268631861418	0.51696	3.348868	0.272704051501497	0.53950	3.561778	0.766587704281113	0.23597	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	5.08	0.68373	4.164000	0.57977	3.887000	0.40272	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0807:0.0:0.9193:0.0	11.878	0.51837	643	0.63827	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.015152	0.019022	0.005848	0.000000	0.000000	0.003049	0.007576	0.02632	1471.33	70	chr17	30185021	.	G	A	1471.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.02;DP=1034;ExcessHet=0;FS=2.627;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=0.114;SOR=0.475	GT:AD:DP:GQ:PL	0/1:47,49:96:99:1485,0,1182	18	0	1	0
chr17	34626316	34626316	A	C	exonic	TMEM132E	.	nonsynonymous SNV	TMEM132E:NM_001304438:exon2:c.A257C:p.E86A	.	421	1083	17	1	0	19	0.00869565	.	.	.	1246008	Hearing_loss,_autosomal_recessive_99|not_provided|not_specified	MONDO:MONDO:0032776,MedGen:C4760579,OMIM:618481|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.105	0.0156382407016	0.0008	0.000399361	0.0015	0.0001	0.0002	0	0	0.0012	0.0031	0.0051	0.0010026	155	154602	rs147874855	0.0008	0.0008	0.0006	0.0009	0.0052	0.0007	0.0007	0.0048	0.0046	2.989e-05	0.0002	0.0124	2.522e-05	0	0.0038	0.0002	0.0014	0.0052	0.0005	0.0005	0.0005	0.0006	0.0048	0.0004	0.0004	0.0033	0.0028	2.406e-05	0	0.0003	0.0101	0.0002	0	0	0.0002	0.0005	0.0048	0.803	0.03093	T	0.225	0.25514	T	0.939	0.52645	P	0.4	0.44481	B	0.000001	0.84330	D	0.053822	0.800889	0.34509	D	0.46	0.12951	N	2.72	0.11947	T	-1.89	0.44094	N	0.524	0.55366	-1.0354	0.18731	T	0.024	0.10194	T	10	0.007769197	0.00176	T	0.015638	0.36485	T	0.105	0.29889	.	.	0.101711395817	0.09552	0.39177012133355504	0.39092	0.993255338325	0.74148	0.557775259018	0.46954	T	0.007693	0.19136	T	-0.502461	0.00554	T	-0.493574	0.23017	T	0.0385352489959301	0.03427	T	0.89921	0.70434	D	0.28336868	0.51369	0.3393668	0.59703	0.3814324	0.59420	0.36686766	0.62008	-2.705	0.07346	T	.	.	0.158	0.39613	B	.;.	.;.	4.169213	0.62671	24.5	0.98468867638673319	0.41826	0.93341	0.57958	D	AEFDBHCI	0.631466	0.61243	D	0.105800735716619	0.46734	2.909205	0.198485047167477	0.49764	3.175798	0.999829391747232	0.43622	0.59774	0.34471	0	0.59043	0.45803	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.91	4.91	0.63897	4.374000	0.59312	11.036000	0.85117	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	13.729	0.62258	970	0.06235	Transmembrane protein TMEM132, N-terminal;Transmembrane protein TMEM132, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.000000	0.006793	0.005848	0.050000	0.000000	0.000000	0.007576	0.02632	1026.33	34	chr17	34626316	.	A	C	1026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.502;DP=745;ExcessHet=0;FS=0.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.356;SOR=0.792	GT:AD:DP:GQ:PL	0/1:49,43:92:99:1040,0,1244	18	0	1	0
chr17	35741231	35741231	G	A	exonic	RASL10B	.	nonsynonymous SNV	RASL10B:NM_033315:exon4:c.G538A:p.A180T	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.124679405887	0.0003	0.000798722	0.0006	0	0.0004	0	0	0.0008	0	0.0009	0.0004786	74	154602	rs147094602	0.0003	0.0003	0.0003	0.0004	0.0068	0.0003	0.0003	0.0051	0.0045	0.0002	0.0007	0.0024	0	1.941e-05	0.0068	0.0002	0.0007	0.0009	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0004	0.0003	4.808e-05	0	0.0007	0.0040	0.0002	0	0.0068	0.0003	0.0014	0.0008	.	.	.	0.477	0.12002	T	0.939	0.52645	P	0.16	0.34752	B	0.000015	0.62929	D	0.000000	0.761277	0.34041	D	0.75	0.19020	N	-2.13	0.86349	D	.	.	.	0.358	0.39962	-0.4750	0.69548	T	0.255	0.62485	T	10	0.024673253	0.00687	T	0.124679	0.80607	D	.	.	.	.	0.977120867506	0.97686	0.7982917059290335	0.79782	.	.	0.836708903313	0.87592	D	0.017295	0.14133	T	-0.193774	0.21707	T	-0.168948	0.57540	T	0.0571465865073061	0.06712	T	0.840916	0.51656	T	0.17744857	0.38712	0.21036054	0.45419	0.17744857	0.38711	0.21036054	0.45418	-3.618	0.18118	T	.	.	0.078	0.06849	B	.	.	4.310402	0.65883	24.9	0.99088182150852355	0.52149	0.97865	0.77711	D	AEFDBHCIJ	0.677059	0.64189	D	0.116022340172161	0.47209	2.949934	0.267899167531657	0.53674	3.535256	0.999999998161207	0.74766	0.789315	0.99827	0	0.563428	0.19063	0	0.768056	0.98339	0	0.620976	0.48614	0	.	.	5.39	4.36	0.51643	6.218000	0.72169	11.597000	0.93447	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0818:0.1576:0.7605:0.0	8.354	0.31482	632	0.64850	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003027	0.000000	0.004076	0.005848	0.000000	0.008621	0.003067	0.003788	0.02632	1100.33	35	chr17	35741231	.	G	A	1100.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.796;DP=701;ExcessHet=0;FS=12.312;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=-0.983;SOR=0.116	GT:AD:DP:GQ:PL	0/1:28,42:70:99:1114,0,798	18	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	11138.3	106	chr17	37257713	.	C	T	11138.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.65;DP=1868;ExcessHet=38.2876;FS=429.8;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-0.138;SOR=13.755	GT:AD:DP:GQ:PL	0/1:37,48:85:99:571,0,545	1	0	18	0
chr17	40701246	40701246	C	T	exonic	KRT24	.	nonsynonymous SNV	KRT24:NM_019016:exon3:c.G749A:p.G250D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	0.0081	0.00898562	0.0023	0.0256	0.0010	0	0	2.998e-05	0.0011	0	0.0022703	351	154602	rs7211480	0.0007	0.0007	0.0008	0.0006	0.0253	0.0007	0.0007	0.0239	0.0233	0.0253	0.0016	0	0	0	0.0007	3.058e-05	0.0018	1.16e-05	0.0073	0.0073	0.0077	0.0068	0.0257	0.0069	0.0068	0.0245	0.0239	0.0257	0	0.0018	0	0	0	0	2.94e-05	0.0024	0.0002	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.992	0.80445	D	.	.	.	.	0.996117	0.43025	D	2.805	0.81760	M	-2.42	0.88611	D	-5.88	0.88699	D	0.688	0.69387	0.647	0.92510	D	0.776	0.92405	D	9	0.012286782	0.00265	T	.	.	.	0.432	0.73807	.	.	0.309839678437	0.30585	0.5763822820438408	0.57567	0.439650943213	0.43992	0.570298075676	0.48720	T	0.287485	0.66028	T	-0.27019	0.11736	T	-0.141289	0.60006	T	0.0489241487041797	0.05310	T	0.880612	0.59878	D	0.9009094	0.91464	0.9259098	0.96810	0.9009094	0.91465	0.9259098	0.96811	-10.272	0.75524	D	.	.	0.434	0.61383	A	.	.	4.204411	0.63475	24.6	0.99831237765948	0.91284	0.46476	0.27768	N	AEFBHCI	0.399695	0.47487	N	0.613429852993441	0.74021	6.062779	0.48824182691661	0.67208	5.053543	0.999331984803658	0.39185	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.82	5.82	0.92740	2.213000	0.42483	4.905000	0.45897	0.596000	0.33519	0.111000	0.23011	1.000000	0.68203	0.758000	0.36073	0.0:1.0:0.0:0.0	20.173	0.98166	85	0.96447	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.010101	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1624.33	41	chr17	40701246	.	C	T	1624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.106;DP=840;ExcessHet=0;FS=1.457;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0.584;SOR=0.559	GT:AD:DP:GQ:PL	0/1:60,62:122:99:1638,0,1592	18	0	1	0
chr17	40822542	40822542	C	T	exonic	KRT10	.	nonsynonymous SNV	KRT10:NM_000421:exon1:c.G44A:p.R15H,KRT10:NM_001379366:exon1:c.G44A:p.R15H	Epidermolytic hyperkeratosis, Autosomal recessive, Autosomal dominant;Ichthyosis with confetti, Autosomal dominant;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1572784	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.254	.	0.0035	0.00179712	0.0008	0.0096	0.0002	0	0	0	0.0022	0	0.0008021	124	154602	rs28411890	0.0003	0.0003	0.0004	0.0003	0.0113	0.0003	0.0003	0.0104	0.0100	0.0113	0.0006	0	0	2.141e-05	0.0002	8.094e-06	0.0006	0.0001	0.0033	0.0033	0.0032	0.0034	0.0118	0.0031	0.0030	0.0110	0.0106	0.0118	0	0.0007	0	0	0	0	4.412e-05	0.0005	0	0.002	0.72154	D	0.013	0.63109	D	0.487	0.36886	P	0.023	0.19966	B	0.002424	0.36574	N	0.000000	1	0.81001	D	2.255	0.64187	M	-1.63	0.82440	D	-0.53	0.16393	N	0.435	0.47395	-0.6011	0.64772	T	0.206	0.56403	T	10	0.0059612393	0.00134	T	.	.	.	0.254	0.56428	.	.	0.784457406344	0.78246	0.2191276336105011	0.21828	0.522139247333	0.49956	0.638254761696	0.58315	T	0.195617	0.55175	T	-0.360289	0.04113	T	-0.279276	0.46878	T	0.0266682783504765	0.01498	T	0.381662	0.09243	T	0.07993022	0.18287	0.058725007	0.10899	0.07993022	0.18287	0.058725007	0.10899	-6.909	0.53365	T	.	.	0.188	0.40489	B	.	.	2.669619	0.34803	19.73	0.99685410908760408	0.79574	0.41947	0.26770	N	AEFDGBHCI	0.101220	0.20335	N	-0.176064789130352	0.34133	1.944607	-0.0404316708839568	0.37908	2.225941	0.999999999945927	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.586423	0.30347	0	0.564101	0.26826	0	.	.	5.52	4.55	0.55429	1.786000	0.38326	1.697000	0.28107	-0.228000	0.07776	0.931000	0.32310	0.909000	0.28100	0.010000	0.09038	0.1376:0.7904:0.0:0.072	10.017	0.41194	79	0.96716	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2541.33	43	chr17	40822542	.	C	T	2541.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.961;DP=931;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=2.08;SOR=0.776	GT:AD:DP:GQ:PL	0/1:100,100:200:99:2555,0,2558	18	0	1	0
chr17	41249756	41249756	-	TGCTGCAGGACCACC	exonic	KRTAP9-4	.	nonframeshift insertion	KRTAP9-4:NM_033191:exon1:c.36_37insTGCTGCAGGACCACC:p.C23_W24insCRTTC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0.0030	0	0	0	0.0001	0.0001153	3	26028	rs756692098	0.0002	0.0002	0.0002	0.0002	0.0070	0.0002	0.0002	0.0063	0.0060	0	6.71e-05	0	0.0070	3.746e-05	0.0002	1.709e-05	6.642e-05	0.0002	0.0002	0.0002	0.0001	0.0002	0.0041	0.0001	8.726e-05	0.0027	0.0023	0	0	0	0	0.0041	0	0	1.471e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4205.29	405	chr17	41249756	.	A	ATGCTGCAGGACCACC	4205.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=4167;ExcessHet=0;FS=6.181;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.26;MQRankSum=-12.55;QD=17.67;ReadPosRankSum=-1.068;SOR=1.068	GT:AD:DP:GQ:PL	0/1:126,112:238:99:4219,0,4844	18	0	1	0
chr17	41346879	41346879	C	T	exonic	KRT33A	.	nonsynonymous SNV	KRT33A:NM_004138:exon5:c.G841A:p.A281T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331	0.0387480910089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.16251	T	0.29	0.21011	T	0.006	0.13644	B	0.042	0.24114	B	0.000004	0.62929	D	0.000000	0.776793	0.34217	D	0.64	0.16041	N	-2.47	0.88997	D	-2.04	0.46842	N	0.217	0.24260	-0.1897	0.77935	T	0.487	0.80471	T	10	0.20504948	0.36718	T	0.038748	0.58406	D	0.331	0.65325	0.435	0.48664	0.322510055762	0.31862	0.09452545469683578	0.09384	0.18364246762	0.20656	0.484185039997	0.36634	T	0.442148	0.78642	T	-0.0464119	0.44989	T	-0.304444	0.44254	T	0.460510104894638	0.31183	T	.	.	.	0.17433828	0.38233	0.20743208	0.45001	0.17433828	0.38232	0.20743208	0.45000	-4.588	0.32020	T	.	.	0.079	0.07224	B	.	.	1.677180	0.21378	15.17	0.9964734549018599	0.77068	0.29361	0.23801	N	AEFBI	0.248916	0.36924	N	-0.408416066334419	0.25174	1.364588	-0.285077241509025	0.28590	1.595237	0.0373264080810927	0.14291	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.4	4.4	0.52402	0.390000	0.20494	-1.565000	0.05159	0.591000	0.32079	0.000000	0.06391	0.000000	0.08366	0.431000	0.27472	0.0:0.9127:0.0:0.0873	12.107	0.53117	112	0.95438	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2360.33	72	chr17	41346879	.	C	T	2360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.232;DP=928;ExcessHet=0;FS=1.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.44;MQRankSum=1.4;QD=11.4;ReadPosRankSum=0.77;SOR=0.576	GT:AD:DP:GQ:PL	0/1:118,89:207:99:2374,0,3027	18	0	1	0
chr17	41502715	41502715	T	C	exonic	KRT13	.	nonsynonymous SNV	KRT13:NM_002274:exon5:c.A995G:p.E332G,KRT13:NM_153490:exon5:c.A995G:p.E332G	White sponge nevus 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3185832	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.742	0.210968047528	0.0004	0.000998403	0.0001	0.0013	0.0003	0	0	1.499e-05	0	0	0.0001423	22	154602	rs141462482	5.951e-05	5.951e-05	6.534e-05	5.363e-05	0.0016	4.883e-05	4.561e-05	0.0012	0.0011	0.0016	0.0002	0	0	0	0	7.194e-06	0.0002	1.159e-05	0.0004	0.0004	0.0005	0.0003	0.0012	0.0003	0.0003	0.0010	0.0009	0.0012	0	0.0005	0	0	0	0.0034	0	0	0	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000301	0.46274	D	0.000000	0.997465	0.43910	D	4.035	0.96960	H	-2.59	0.89822	D	-6.65	0.92260	D	0.653	0.68690	0.735	0.93612	D	0.791	0.92917	D	10	0.2050761	0.36722	T	0.210968	0.87280	D	0.742	0.91069	.	.	0.969111081713	0.96877	0.07740947727549337	0.07676	0.527981272064	0.50389	0.579383730888	0.49999	T	0.699968	0.93985	D	-0.0924316	0.37675	T	0.0489002	0.73512	D	0.310400426811829	0.25431	T	0.868613	0.57103	D	0.9085512	0.92160	0.9135648	0.95941	0.9085512	0.92161	0.9135648	0.95942	-11.302	0.81288	D	.	.	0.814	0.77965	P	.;.;.	.;.;.	5.443867	0.90971	32	0.99919821423667821	0.98654	0.97162	0.73054	D	AEFBI	0.796212	0.72341	D	0.752227946226232	0.83051	7.916704	0.654259338396397	0.78928	6.976071	0.66228092078593	0.22284	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.45	4.45	0.53365	6.264000	0.72490	7.846000	0.70742	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	12.725	0.56534	440	0.80101	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.005051	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2627.33	39	chr17	41502715	.	T	C	2627.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.243;DP=862;ExcessHet=0;FS=1.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.639;SOR=0.833	GT:AD:DP:GQ:PL	0/1:108,105:213:99:2641,0,3003	18	0	1	0
chr17	41610936	41610936	A	C	exonic	KRT16	.	nonsynonymous SNV	KRT16:NM_005557:exon5:c.T977G:p.V326G	Pachyonychia congenita 1, Autosomal dominant;Palmoplantar keratoderma, nonepidermolytic, focal, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.0627218372218	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.563e-06	1.285e-05	0	2.408e-05	0	0	.	.	2.408e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	0.985	0.61118	D	0.935	0.67021	D	0.244782	0.15634	N	0.513144	0.998933	0.21783	N	2.975	0.85398	M	-1.16	0.78082	T	-5.52	0.85994	D	0.316	0.35620	-0.2815	0.75500	T	0.592	0.85408	D	10	0.66793907	0.70539	D	0.062722	0.68742	D	0.338	0.66010	.	.	0.633825615615	0.63082	0.5634568028676141	0.56272	1.05760609486	0.76358	0.338925540447	0.16277	T	0.731018	0.92471	D	0.0570243	0.59239	T	-0.155865	0.58721	T	0.940511167049408	0.61292	D	0.724828	0.35599	T	0.6297301	0.74284	0.6919108	0.81869	0.6297301	0.74285	0.6919108	0.81870	-13.732	0.92153	D	0.25806083200470464	0.34870	0.476	0.63486	A	.;.	.;.	3.584092	0.50547	23.0	0.99592707021324278	0.73690	0.75324	0.36875	D	AEFBI	0.595803	0.59021	D	0.191486547744647	0.50790	3.265752	0.00277052897819345	0.39845	2.368659	0.00870435210985687	0.11725	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.37	3.27	0.36580	6.037000	0.70597	5.310000	0.48261	0.756000	0.94297	0.713000	0.28751	0.428000	0.24841	0.051000	0.15275	0.8546:0.0:0.0:0.1453	10.500	0.43989	307	0.87649	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1783.33	35	chr17	41610936	.	A	C	1783.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.726;DP=809;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.36;SOR=0.772	GT:AD:DP:GQ:PL	0/1:83,70:153:99:1797,0,2246	18	0	1	0
chr17	42110907	42110907	G	T	exonic	DHX58	.	nonsynonymous SNV	DHX58:NM_024119:exon5:c.C377A:p.S126Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.0398314895504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.883e-07	1.368e-06	0	1.385e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.986	0.61523	D	0.915	0.65091	D	0.000297	0.46274	D	0.139082	0.943869	0.37426	D	3.41	0.91792	M	1.24	0.38073	T	-4.87	0.82764	D	0.601	0.61933	-0.1426	0.79101	T	0.299	0.67036	T	10	0.69785416	0.72256	D	0.039831	0.59031	D	0.308	0.62947	0.566	0.68768	0.756655250323	0.75444	0.8938966995595169	0.89360	0.982308939305	0.73784	0.521658062935	0.41860	T	0.52707	0.83565	D	0.0378351	0.56760	T	-0.183429	0.56203	T	0.996961176395416	0.90465	D	0.921708	0.71584	D	0.72699654	0.79554	0.66108626	0.80141	0.72699654	0.79556	0.66108626	0.80142	-13.422	0.91026	D	.	.	0.860	0.82580	P	.;.;.;.	.;.;.;.	4.627527	0.73545	26.0	0.99387729232571065	0.62202	0.95544	0.65144	D	AEFDGBC	0.939158	0.93936	D	0.837041422194311	0.88357	9.548511	0.741149235244738	0.85495	8.597545	0.999999999984399	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.79	4.79	0.60909	9.678000	0.97908	9.993000	0.82996	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.629000	0.32131	0.0:0.0:1.0:0.0	16.412	0.83561	321	0.86949	Helicase/UvrB, N-terminal|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;Helicase/UvrB, N-terminal|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;Helicase superfamily 1/2, ATP-binding domain;Helicase/UvrB, N-terminal|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2204.33	34	chr17	42110907	.	G	T	2204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=831;ExcessHet=0;FS=1.148;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-1.361;SOR=0.819	GT:AD:DP:GQ:PL	0/1:103,86:189:99:2218,0,2546	18	0	1	0
chr17	42301445	42301445	A	T	exonic	STAT5A	.	nonsynonymous SNV	STAT5A:NM_001288719:exon8:c.A1070T:p.N357I,STAT5A:NM_001288718:exon9:c.A1160T:p.N387I,STAT5A:NM_001288720:exon9:c.A1160T:p.N387I,STAT5A:NM_003152:exon10:c.A1160T:p.N387I	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.183484659028	.	.	5.797e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs752308916	2.599e-05	2.599e-05	1.225e-05	3.988e-05	0.0004	1.932e-05	1.692e-05	0.0003	0.0003	0	0	0	0	0	0.0002	0	0	0.0004	2.632e-05	2.627e-05	0	5.388e-05	0.0008	8.15e-06	5.15e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.031	0.45039	D	0.149	0.32568	T	0.047	0.21998	B	0.121	0.32300	B	0.000003	0.62929	D	0.099589	0.999974	0.53665	D	1.5	0.37844	L	-2.46	0.88924	D	-2.11	0.50992	N	0.411	0.50868	-0.0370	0.81483	T	0.606	0.86030	D	10	0.16438141	0.30755	T	0.183485	0.85688	D	0.340	0.66202	0.54	0.65161	0.707996449842	0.70544	0.3057129301723448	0.30484	1.02942043651	0.75374	0.673897922039	0.63393	T	0.673146	0.90321	D	-0.154515	0.27606	T	-0.14357	0.59808	T	0.196442797321295	0.20217	T	0.946205	0.83186	D	0.23931928	0.46820	0.15444723	0.36247	0.23931928	0.46820	0.15444723	0.36246	-4.712	0.33549	T	.	.	0.183	0.40858	B	.;.;.;.	.;.;.;.	2.709962	0.35416	19.89	0.97805700765310644	0.36091	0.89424	0.49880	D	AEFDBCI	0.289650	0.40124	N	-0.277510919852341	0.30019	1.669986	-0.190966531916537	0.31868	1.807535	0.999662261549299	0.41534	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.6	2.39	0.28492	1.978000	0.40221	1.885000	0.29478	0.591000	0.32079	1.000000	0.71638	0.999000	0.35428	0.914000	0.44937	0.6685:0.0:0.3315:0.0	6.192	0.19744	364	0.84707	STAT transcription factor, DNA-binding;STAT transcription factor, DNA-binding;.;STAT transcription factor, DNA-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2965.33	36	chr17	42301445	.	A	T	2965.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=895;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.217;SOR=0.722	GT:AD:DP:GQ:PL	0/1:132,112:244:99:2979,0,3418	18	0	1	0
chr17	42577481	42577481	C	G	exonic	PSMC3IP	.	nonsynonymous SNV	PSMC3IP:NM_013290:exon2:c.G115C:p.E39Q,PSMC3IP:NM_016556:exon2:c.G115C:p.E39Q	Ovarian dysgenesis 3, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00412300800457	.	0.000199681	6.61e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs538091060	2.394e-05	2.394e-05	8.167e-06	3.988e-05	0.0004	1.738e-05	1.539e-05	0.0003	0.0003	0	0	0	0	0	0.0002	0	0	0.0004	2.626e-05	2.625e-05	0	5.372e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.141	0.25560	T	0.213	0.26467	T	0.362	0.40250	B	0.281	0.40336	B	0.023221	0.26485	N	0.433090	0.984286	0.81001	D	1.575	0.39704	L	0.86	0.47815	T	-1.22	0.30964	N	0.163	0.19728	-1.0687	0.09701	T	0.078	0.31163	T	10	0.065885544	0.08955	T	0.004123	0.09869	T	0.085	0.24743	0.41	0.44559	0.315314060047	0.31143	0.22863561024810639	0.22778	0.233177444667	0.25854	0.473005205393	0.35094	T	0.111225	0.42654	T	-0.412117	0.01924	T	-0.519236	0.20372	T	0.422253549098969	0.29773	T	0.863614	0.56831	D	0.2648379	0.49552	0.1898863	0.42360	0.2648379	0.49552	0.1898863	0.42359	-5.972	0.46045	T	.	.	0.138	0.30076	B	.;.	.;.	3.367965	0.46524	22.3	0.98756677319269737	0.45739	0.74611	0.36503	D	AEFDGBHCI	0.389716	0.46883	N	0.115851581392112	0.47202	2.949253	0.278716957906627	0.54299	3.59526	0.999999999916549	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.04	5.04	0.67293	6.015000	0.70444	3.977000	0.40873	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.1495:0.8505:0.0:0.0	14.239	0.65489	206	0.91974	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1024.33	34	chr17	42577481	.	C	G	1024.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.751;DP=694;ExcessHet=0;FS=0.979;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=-0.745;SOR=0.852	GT:AD:DP:GQ:PL	0/1:24,38:62:99:1038,0,613	18	0	1	0
chr17	42692697	42692697	A	T	exonic	CNTNAP1	.	nonsynonymous SNV	CNTNAP1:NM_003632:exon17:c.A2729T:p.E910V	Lethal congenital contracture syndrome 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.0384142293885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	1.363e-06	2.755e-06	3.48e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.48e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.005	0.72224	D	0.0	0.02946	B	0.002	0.06944	B	0.003486	0.34874	N	0.249852	0.707335	0.30047	N	2.095	0.58118	M	-1.36	0.80125	T	-4.02	0.74269	D	0.435	0.47395	-0.5894	0.65245	T	0.346	0.71115	T	10	0.5475168	0.64068	D	0.038414	0.58210	D	0.436	0.74093	0.783	0.90693	0.728235260138	0.72582	0.6045704465943722	0.60388	0.461870453635	0.45726	0.505912899971	0.39652	T	0.625165	0.88308	D	0.0626542	0.59946	T	-0.147778	0.59441	T	0.983426094055176	0.75096	D	0.591241	0.21771	T	0.16939197	0.37453	0.16096237	0.37465	0.16939197	0.37453	0.16096237	0.37464	-8.838	0.66648	D	0.2966520157870889	0.39371	0.353	0.56799	A	.	.	3.582840	0.50517	23.0	0.9877987095439682	0.46112	0.97805	0.77262	D	AEFGBI	0.610313	0.59919	D	-0.136219916492213	0.35824	2.062592	0.0282173858830617	0.41029	2.458291	0.99567498807838	0.34259	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.69	4.6	0.56512	4.399000	0.59463	8.042000	0.76319	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.7311:0.1375:0.0:0.1313	8.331	0.31345	261	0.89765	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	748.33	36	chr17	42692697	.	A	T	748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.129;DP=678;ExcessHet=0;FS=3.043;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=0.854;SOR=1.489	GT:AD:DP:GQ:PL	0/1:25,25:50:99:762,0,721	18	0	1	0
chr17	44005037	44005037	C	A	exonic	NAGS	.	nonsynonymous SNV	NAGS:NM_153006:exon1:c.C374A:p.T125K	N-acetylglutamate synthase deficiency, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	YES	364128	NAGS-related_disorder|not_specified|Hyperammonemia,_type_III|not_provided	.|MedGen:CN169374|MONDO:MONDO:0009377,MedGen:C0268543,OMIM:237310,Orphanet:927|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.346	.	0.0016	0.000998403	0.0063	0.0018	0.0052	0.0008	0	0.0058	0.0106	0.0084	0.0018046	279	154602	rs185863881	0.0036	0.0035	0.0034	0.0037	0.0072	0.0035	0.0034	0.0068	0.0066	0.0007	0.0024	0.0010	7.958e-05	0.0002	0.0016	0.0037	0.0036	0.0072	0.0020	0.0020	0.0023	0.0016	0.0052	0.0018	0.0017	0.0036	0.0031	0.0007	0	0.0019	0.0012	0	0.0006	0	0.0030	0.0014	0.0052	1.0	0.00964	T	0.764	0.30534	T	0.358	0.33818	B	0.245	0.38823	B	0.027343	0.25770	N	0.340582	0.810041	0.34628	D	0.895	0.22405	L	-2.8	0.91076	D	1.66	0.00606	N	0.367	0.40864	-0.4225	0.71310	T	0.415	0.76245	T	10	0.007922173	0.00180	T	.	.	.	0.346	0.66769	.	.	0.825095527755	0.82344	0.4900396173382061	0.48923	0.91577893214	0.71236	0.335884690285	0.15822	T	0.260773	0.63218	T	-0.272702	0.11457	T	-0.161187	0.58245	T	0.0104722304067292	0.00145	T	0.677032	0.28590	T	0.0523633	0.09755	0.07671538	0.17018	0.05123286	0.09376	0.089182824	0.20839	-0.432	0.00543	T	0.17196933941002396	0.21707	0.148	0.34004	B	.;.	.;.	1.617683	0.20668	14.85	0.92866617794851669	0.22409	0.84107	0.43191	D	AEFDBHCI	0.386975	0.46714	N	-0.624946908057633	0.18197	0.9428163	-0.537857217154159	0.21128	1.141553	0.999981746453922	0.51787	0.652421	0.48094	0	0.616487	0.53143	0	0.64067	0.45733	0	0.657601	0.63696	0	.	.	4.57	1.06	0.19341	1.249000	0.32441	0.349000	0.17458	-0.171000	0.11205	0.021000	0.19753	0.000000	0.08366	0.996000	0.76049	0.0:0.7045:0.0:0.2955	8.408	0.31788	706	0.57215	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003106	0.000000	0.002740	0.000000	0.000000	0.000000	0.000000	0.019380	0.02632	1247.33	34	chr17	44005037	.	C	A	1247.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.299;SOR=0.639	GT:AD:DP:GQ:PL	0/1:67,51:118:99:1261,0,1453	18	0	1	0
chr17	50471058	50471058	G	A	exonic	ACSF2	.	nonsynonymous SNV	ACSF2:NM_001288971:exon9:c.G766A:p.V256M,ACSF2:NM_001288970:exon10:c.G1117A:p.V373M,ACSF2:NM_001288969:exon11:c.G1207A:p.V403M,ACSF2:NM_001288972:exon11:c.G766A:p.V256M,ACSF2:NM_025149:exon11:c.G1246A:p.V416M,ACSF2:NM_001288968:exon12:c.G1321A:p.V441M	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0756986182997	0.0017	0.000399361	0.0019	0	8.64e-05	0	0.0011	0.0032	0	0.0006	0.0017205	266	154602	rs142467151	0.0015	0.0015	0.0015	0.0015	0.0013	0.0015	0.0015	0.0013	0.0012	0.0001	0.0001	0.0204	0	0.0010	0.0009	0.0013	0.0019	0.0006	0.0013	0.0013	0.0013	0.0013	0.0015	0.0012	0.0011	0.0013	0.0012	0.0002	0	6.544e-05	0.0196	0	0.0012	0	0.0015	0.0009	0.0008	0.001	0.78490	D	0.001	0.83351	D	0.992	0.64738	D	0.883	0.62698	P	0.000009	0.62929	D	0.064439	0.999999	0.58761	D	3.135	0.88152	M	0.88	0.46028	T	-2.62	0.56301	D	0.693	0.69825	-0.1828	0.78110	T	0.311	0.68175	T	10	0.014143795	0.00298	T	0.075699	0.72352	D	0.313	0.63482	.	.	0.696278389146	0.69365	0.7463861982506215	0.74584	1.1523092919	0.79246	0.547987759113	0.45574	T	0.302089	0.67451	T	-0.317451	0.07109	T	-0.236037	0.51185	T	0.0834510224038088	0.10423	T	0.984502	0.94722	D	0.47811276	0.65786	0.43940592	0.67294	0.47811276	0.65786	0.43940592	0.67294	-8.496	0.64403	D	.	.	0.347	0.57640	A	.;.;.;.	.;.;.;.	5.226896	0.87732	29.3	0.99872045131611176	0.94989	0.95827	0.66323	D	AEFDBI	0.710022	0.66392	D	0.630885305431587	0.75136	6.253	0.509179107953124	0.68605	5.243327	0.99999770396574	0.74766	0.740716	0.97744	0	0.670034	0.63936	0	0.723109	0.80598	0	0.526665	0.08891	0	.	.	4.67	4.67	0.58089	5.606000	0.67324	9.843000	0.81937	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.674000	0.33367	0.0:0.0:1.0:0.0	15.772	0.77951	894	0.26265	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3582.33	33	chr17	50471058	.	G	A	3582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.584;DP=901;ExcessHet=0;FS=5.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.537;SOR=0.806	GT:AD:DP:GQ:PL	0/1:124,149:273:99:3596,0,2729	18	0	1	0
chr17	50660999	50660999	C	T	exonic	ABCC3	.	nonsynonymous SNV	ABCC3:NM_001144070:exon8:c.C883T:p.R295W,ABCC3:NM_003786:exon8:c.C883T:p.R295W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.117860904123	.	.	5.82e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs770073679	2.121e-05	2.121e-05	1.906e-05	2.338e-05	0.0003	1.52e-05	1.324e-05	0.0002	0.0002	8.963e-05	0	0	0	0	0	3.597e-06	0	0.0003	1.314e-05	1.313e-05	1.284e-05	1.344e-05	4.823e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.028	0.79402	D	0.093	0.65571	B	0.033	0.49270	B	0.160320	0.03033	N	1.736900	1	0.08975	N	2.295	0.65404	M	-2.59	0.97172	D	-1.48	0.59059	N	0.248	0.28732	0.313	0.87767	D	0.865	0.95512	D	10	0.14050987	0.26707	T	0.117861	0.79775	D	0.268	0.58254	0.419	0.46036	0.851202202478	0.84977	0.4019421234819466	0.40110	0.476132634309	0.46754	0.243201255798	0.03086	T	0.191719	0.54666	T	-0.15448	0.27612	T	-0.1537	0.58916	T	0.201842650771141	0.20517	T	0.856214	0.54490	D	0.073594436	0.16456	0.06420552	0.12833	0.073594436	0.16456	0.06420552	0.12833	-6.651	0.51440	T	.	.	0.099	0.18950	B	.;.	.;.	2.790925	0.36690	20.3	0.99797714785102687	0.88283	0.11664	0.16782	N	AEFDGBHCI	0.352944	0.44553	N	-0.586805287476722	0.19345	1.011681	-0.717560513226644	0.16523	0.8745065	0.999998478668738	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.466023	0.07079	0	.	.	5.18	0.516	0.16217	1.054000	0.30064	-0.221000	0.10763	0.537000	0.25018	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4729:0.4401:0.0:0.087	6.493	0.21325	837	0.37933	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	703.33	34	chr17	50660999	.	C	T	703.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=698;ExcessHet=0;FS=0.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=0.011;SOR=0.55	GT:AD:DP:GQ:PL	0/1:46,28:74:99:717,0,1134	18	0	1	0
chr17	58218626	58218626	T	C	exonic	MKS1	.	nonsynonymous SNV	MKS1:NM_001165927:exon2:c.A154G:p.T52A,MKS1:NM_001321269:exon2:c.A184G:p.T62A,MKS1:NM_001330397:exon2:c.A184G:p.T62A,MKS1:NM_017777:exon2:c.A184G:p.T62A	Bardet-Biedl syndrome 13, Autosomal recessive;Joubert syndrome 28, Autosomal recessive;Meckel syndrome 1, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	3407926	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	Uncertain_significance	.	.	.	.	.	.	.	.	0.348	0.00623335102184	.	.	4.143e-05	0	8.654e-05	0	0	0	0	0.0002	3.23e-05	5	154602	rs758090787	3.371e-05	3.352e-05	9.592e-06	5.803e-05	0.0005	2.581e-05	2.325e-05	0.0004	0.0003	0	0	0	0	0	0.0003	0	4.989e-05	0.0005	4.596e-05	4.593e-05	0	9.4e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0.0005	0.0012	0.812	0.03044	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.093499	0.02478	N	2.142410	1	0.18612	N	-0.205	0.04094	N	-0.26	0.67543	T	-0.51	0.16598	N	0.504	0.66529	-0.9591	0.39349	T	0.059	0.24908	T	10	0.028547794	0.00986	T	0.006233	0.16347	T	0.348	0.66956	0.133	0.03747	0.491112125781	0.48745	0.21900587012377654	0.21816	0.24617174184	0.27154	0.305601358414	0.11242	T	0.159719	0.50327	T	-0.263256	0.12522	T	-0.305407	0.44150	T	0.0081780009725031	0.00098	T	0.610139	0.23115	T	0.029850122	0.02548	0.027550627	0.00917	0.028888393	0.02295	0.029242925	0.01241	-2.708	0.07371	T	.	.	0.056	0.00730	B	.;.;.	.;.;.	1.012680	0.13919	10.48	0.8368087906706646	0.14860	0.02162	0.06348	N	AEFDBCI	0.043597	0.06911	N	-1.38774248899974	0.02752	0.1219736	-1.29483687137989	0.04500	0.212394	0.999995004286766	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.662677	0.59975	0	0.665054	0.64577	0	.	.	5.44	-4.34	0.03412	-0.564000	0.06027	-0.301000	0.10115	0.654000	0.53741	0.002000	0.15269	0.000000	0.08366	0.977000	0.56843	0.429:0.3428:0.0:0.2282	4.349	0.10581	572	0.70300	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1610.33	38	chr17	58218626	.	T	C	1610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.868;DP=812;ExcessHet=0;FS=3.413;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.84;SOR=1.044	GT:AD:DP:GQ:PL	0/1:53,63:116:99:1624,0,1246	18	0	1	0
chr17	61907534	61907534	A	G	exonic	INTS2	.	nonsynonymous SNV	INTS2:NM_001330417:exon8:c.T1055C:p.V352A,INTS2:NM_001351695:exon8:c.T1055C:p.V352A,INTS2:NM_020748:exon8:c.T1079C:p.V360A	.	429	1089	4	0	0	4	0.00183318	.	.	.	3213965	INTS2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.043	0.00609781199416	0.0011	0.000399361	0.0026	0.0004	0.0007	0	0.0006	0.0031	0.0044	0.0047	0.0014489	224	154602	rs61752320	0.0021	0.0021	0.0020	0.0021	0.0036	0.0020	0.0020	0.0033	0.0032	0.0003	0.0004	0.0005	0	0.0006	0.0016	0.0022	0.0023	0.0036	0.0012	0.0012	0.0015	0.0010	0.0025	0.0011	0.0010	0.0016	0.0015	0.0003	0.0230	0.0004	0.0003	0	0.0006	0	0.0019	0.0014	0.0025	0.63	0.05152	T	0.746	0.05036	T	0.0	0.02946	B	0.0	0.01387	B	0.000364	0.45194	N	0.230439	0.715033	0.29977	N	-0.41	0.02942	N	0.99	0.41750	T	0.03	0.06612	N	0.236	0.26596	-1.0322	0.19745	T	0.048	0.20355	T	9	0.0035102963	0.00063	T	0.006098	0.15964	T	0.043	0.11576	.	.	0.082315109003	0.07666	0.2438222657411393	0.24296	0.309053041831	0.33220	0.38191139698	0.22527	T	0.036066	0.23962	T	-0.53959	0.00337	T	-0.548699	0.17451	T	0.0107287930164091	0.00151	T	0.666133	0.27528	T	0.0745834	0.16748	0.05934711	0.11122	0.0745834	0.16748	0.05934711	0.11121	-3.475	0.16084	T	.	.	0.062	0.01348	B	.;.;.;.	.;.;.;.	1.557395	0.19955	14.52	0.79595439009755076	0.12813	0.53585	0.29407	D	AEFDBI	0.077339	0.15579	N	-0.433659429485219	0.24298	1.310953	-0.234872148994616	0.30297	1.704571	0.00536507739986158	0.10916	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.87	2.43	0.28797	2.663000	0.46440	1.354000	0.25830	0.756000	0.94297	1.000000	0.71638	0.125000	0.22942	0.997000	0.79791	0.6588:0.0:0.3412:0.0	9.313	0.37077	39	0.97975	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	1675.33	34	chr17	61907534	.	A	G	1675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.474;DP=733;ExcessHet=0;FS=2.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=-0.484;SOR=0.475	GT:AD:DP:GQ:PL	0/1:38,67:105:99:1689,0,878	18	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	691.29	68	chr17	61968034	.	C	G	691.29	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-0.705;DP=1218;ExcessHet=25.4433;FS=198.029;InbreedingCoeff=-0.6911;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.43;SOR=10.515	GT:AD:DP:GQ:PL	0/1:40,21:61:39:39,0,485	8	0	11	0
chr17	62033864	62033864	A	C	exonic	MED13	.	nonsynonymous SNV	MED13:NM_005121:exon5:c.T737G:p.L246W	.	422	1098	2	0	0	2	0.000909918	.	.	.	704270	not_provided|MED13-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.249	.	0.0040	0.00479233	0.0017	0.0141	0.0023	0	0	0.0006	0.0022	6.058e-05	0.0017464	270	154602	rs144337667	0.0010	0.0010	0.0010	0.0009	0.0174	0.0009	0.0009	0.0162	0.0157	0.0174	0.0028	0.0037	0	0	0.0085	0.0004	0.0024	9.275e-05	0.0048	0.0048	0.0052	0.0043	0.0147	0.0045	0.0044	0.0137	0.0134	0.0147	0	0.0024	0.0032	0	0	0.0068	0.0007	0.0090	0.0002	0.057	0.37966	T	0.024	0.56640	D	0.999	0.77913	D	0.969	0.72001	D	0.001578	0.38612	N	0.229596	0.790808	0.34384	D	1.355	0.33814	L	-0.86	0.74477	T	-1.73	0.41046	N	0.531	0.55972	-0.2725	0.75744	T	0.254	0.62439	T	10	0.009712249	0.00218	T	.	.	.	0.249	0.55752	.	.	0.422872527889	0.41901	0.2675169830593967	0.26664	0.921292065219	0.71464	0.64195305109	0.58842	T	0.280119	0.65282	T	-0.342054	0.05247	T	-0.25179	0.49639	T	0.0279277013907083	0.01677	T	0.80392	0.45144	T	0.05698189	0.11281	0.11220809	0.27073	0.05698189	0.11281	0.11220809	0.27072	-6.23	0.48165	T	.	.	0.124	0.26106	B	.	.	4.138412	0.61982	24.4	0.95948479555359367	0.28264	0.95408	0.64603	D	AEFGBI	0.647418	0.62260	D	0.414633758102731	0.62227	4.435156	0.428008123406892	0.63316	4.562949	0.102715419208174	0.16424	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.56	4.48	0.53973	4.976000	0.63501	6.244000	0.55301	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9284:0.0:0.0716:0.0	11.261	0.48315	366	0.84579	Mediator complex, subunit Med13, N-terminal, metazoa/fungi	.	.	.	.	.	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	0.006042	0.010101	0.013587	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1242.33	34	chr17	62033864	.	A	C	1242.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.616;DP=779;ExcessHet=0;FS=0.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=-0.464;SOR=0.796	GT:AD:DP:GQ:PL	0/1:93,54:147:99:1256,0,2573	18	0	1	0
chr17	63688807	63688807	A	G	exonic	MAP3K3	.	nonsynonymous SNV	MAP3K3:NM_001330431:exon10:c.A785G:p.Y262C,MAP3K3:NM_002401:exon10:c.A797G:p.Y266C,MAP3K3:NM_001363768:exon11:c.A878G:p.Y293C,MAP3K3:NM_203351:exon11:c.A890G:p.Y297C	.	425	1093	3	1	0	5	0.00228206	.	.	.	3700137	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.0153317638561	.	.	6.591e-05	0	0	0	0	5.996e-05	0	0.0002	5.17e-05	8	154602	rs771693753	3.626e-05	3.625e-05	2.587e-05	4.676e-05	0.0024	2.829e-05	2.565e-05	0.0015	0.0012	0	0	0	0	0	0.0024	8.995e-06	0.0002	0.0002	6.569e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.254	0.17014	T	0.227	0.25987	T	0.0	0.07471	B	0.003	0.08700	B	0.000982	0.40743	N	0.255069	0.999985	0.54805	D	1.32	0.33002	L	0.82	0.48142	T	-1.83	0.42957	N	0.316	0.40864	-1.0840	0.06591	T	0.077	0.30798	T	10	0.12646791	0.24042	T	0.015332	0.35999	T	0.080	0.23350	.	.	0.494013581214	0.49034	0.5444416483124024	0.54370	0.883692856814	0.69870	0.685586452484	0.65071	T	0.036325	0.76942	T	-0.305459	0.08155	T	-0.402248	0.33123	T	0.0469860731213603	0.04962	T	0.859714	0.56210	D	0.0835687	0.19303	0.060504854	0.11532	0.0835687	0.19302	0.060504854	0.11531	-5.184	0.39983	T	.	.	0.056	0.01786	B	.;.;.;.;.	.;.;.;.;.	2.538890	0.32839	19.16	0.93697960863420204	0.23608	0.75942	0.37210	D	AEFDGBHCI	0.345854	0.44087	N	-0.348799145491302	0.27315	1.497729	-0.209078040107575	0.31209	1.764099	0.97333154773186	0.29446	0.77792	0.99625	0	0.854111	0.99885	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	0.947	0.18680	2.786000	0.47479	2.612000	0.33583	-0.050000	0.17177	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.6172:0.1228:0.26:0.0	6.214	0.19860	891	0.26808	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1564.33	33	chr17	63688807	.	A	G	1564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.333;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.421;SOR=0.751	GT:AD:DP:GQ:PL	0/1:73,64:137:99:1578,0,1888	18	0	1	0
chr17	63872555	63872555	C	T	exonic	CSH2	.	nonsynonymous SNV	CSH2:NM_022644:exon4:c.G478A:p.A160T	.	0	1505	16	0	1	17	0.00528751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00958917424235	0.0003	0.00179712	0.0013	0.0004	0.0026	0	0	0.0011	0.0033	0.0027	0.0013777	213	154602	rs1811082	0.0007	0.0011	0.0006	0.0007	0.0075	0.0006	0.0006	0.0057	0.0051	0.0004	0.0020	0.0029	0.0001	0	0.0075	0.0005	0.0013	0.0019	0.0009	0.0011	0.0010	0.0008	0.0025	0.0008	0.0007	0.0019	0.0016	0.0003	0	0.0025	0.0055	0	9.429e-05	0.0103	0.0008	0.0033	0.0015	0.028	0.46129	D	0.058	0.46182	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.35	0.88066	D	-0.09	0.08340	N	0.054	0.02559	-0.8368	0.52858	T	0.242	0.61060	T	8	0.006950289	0.00158	T	0.009589	0.25085	T	0.135	0.36572	.	.	0.0846915920261	0.08053	.	.	.	.	.	.	.	.	.	.	-0.414725	0.01850	T	-0.375764	0.36217	T	0.00215468234746831	0.00022	T	0.234876	0.03235	T	.	.	.	.	.	.	.	.	-3.692	0.19200	T	.	.	0.083	0.09433	B	.	.	0.589305	0.09576	6.353	0.72068831384837162	0.09845	0.00182	0.01064	N	AEFI	0.016340	0.00362	N	-1.64488747935536	0.01057	0.04585317	-1.68511492327851	0.01204	0.05423025	2.46848498165473E-5	0.03498	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.07	-2.18	0.06643	-0.184000	0.09693	-0.664000	0.07966	-0.962000	0.01975	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2471:0.1768:0.3735:0.2027	0.605	0.00702	875	0.30485	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007431	0.005051	0.012228	0.008197	0.000000	0.017241	0.000000	0.000000	0.05263	2148.83	33	chr17	63872555	.	C	T	2148.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.444;DP=1095;ExcessHet=0.119;FS=2.025;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.44;MQRankSum=-3.111;QD=4.61;ReadPosRankSum=0.922;SOR=0.921	GT:AD:DP:GQ:PL	0/1:160,64:224:99:1170,0,3859	17	0	2	0
chr17	68984096	68984096	C	T	exonic	ABCA9	.	nonsynonymous SNV	ABCA9:NM_080283:exon35:c.G4459A:p.V1487M	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.663	0.160241492565	7.7e-05	.	0.0002	0	8.639e-05	0.0001	0	1.499e-05	0.0011	0.0010	0.0001358	21	154602	rs372324484	6.977e-05	6.977e-05	4.084e-05	9.9e-05	0.0009	5.846e-05	5.457e-05	0.0007	0.0007	0	0	0	2.519e-05	0	0.0003	1.619e-05	4.967e-05	0.0009	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.001	0.78490	D	0.007	0.69154	D	0.995	0.67487	D	0.916	0.65201	D	0.001120	0.40219	N	0.000000	0.990452	0.81001	D	1.005	0.25186	L	-4.62	0.97884	D	-1.8	0.42384	N	0.651	0.66187	0.890	0.95534	D	0.896	0.96542	D	10	0.5466648	0.64022	D	0.160241	0.84028	D	0.663	0.87430	.	.	0.933465771672	0.93277	0.2401202949436094	0.23926	0.339899624421	0.35937	0.577979385853	0.49802	T	0.151801	0.49191	T	-0.106909	0.35280	T	0.0232159	0.71838	D	0.274705678224564	0.23947	T	0.837116	0.68863	T	0.12398329	0.29101	0.21077189	0.45479	0.12398329	0.29100	0.21077189	0.45478	-8.359	0.63491	D	.	.	0.174	0.44201	B	.;.	.;.	2.854856	0.37700	20.6	0.99882762512363921	0.95892	0.73462	0.35934	D	AEFBI	0.317893	0.42176	N	0.198001230188767	0.51102	3.294264	0.14582322095459	0.46921	2.930355	0.065166603884202	0.15352	0.553676	0.25195	0	0.588015	0.36545	0	0.573078	0.19857	0	0.491896	0.07777	0	.	.	4.86	3.88	0.43959	0.439000	0.21293	-0.845000	0.07201	0.599000	0.40250	0.039000	0.20931	0.000000	0.08366	0.282000	0.24066	0.0:0.7607:0.1565:0.0828	8.410	0.31797	956	0.09877	ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2728.33	36	chr17	68984096	.	C	T	2728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.048;DP=794;ExcessHet=0;FS=3.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=1.07;SOR=0.458	GT:AD:DP:GQ:PL	0/1:63,103:166:99:2742,0,1519	18	0	1	0
chr17	73088754	73088754	C	A	exonic	SLC39A11	.	nonsynonymous SNV	SLC39A11:NM_001159770:exon2:c.G11T:p.G4V,SLC39A11:NM_001352692:exon2:c.G11T:p.G4V,SLC39A11:NM_001352693:exon2:c.G11T:p.G4V,SLC39A11:NM_139177:exon2:c.G11T:p.G4V,SLC39A11:NM_001352691:exon3:c.G11T:p.G4V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.697	0.117343091951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.377e-06	1.368e-06	0	2.771e-06	2.369e-05	2.3e-07	9e-08	3.93e-06	1.47e-06	0	0	0	0	0	0	0	0	2.369e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.83351	D	0.995	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.175	0.88760	M	-1.43	0.80730	T	-6.37	0.91058	D	0.654	0.68516	0.501	0.90562	D	0.683	0.89055	D	10	0.7517543	0.75688	D	0.117343	0.79709	D	0.697	0.89053	0.334	0.32167	0.83337990874	0.83179	0.6920689555356158	0.69146	0.680450161091	0.59993	0.567728281021	0.48356	T	0.113024	0.42974	T	0.387839	0.89197	D	0.319328	0.89062	D	0.993267893791199	0.83995	D	.	.	.	0.85105693	0.87414	0.7662342	0.86193	0.85105693	0.87415	0.7662342	0.86194	-12.113	0.85398	D	.	.	0.246	0.49865	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.744230	0.76536	26.5	0.9741177924876272	0.33830	0.96440	0.69150	D	AEFDBI	0.488530	0.52682	N	0.686549273133024	0.78753	6.935158	0.61724872239595	0.76193	6.445926	0.999999330030127	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.77	4.77	0.60425	2.553000	0.45498	7.347000	0.58277	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	13.721	0.62206	684	0.59539	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1904.33	34	chr17	73088754	.	C	A	1904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.834;DP=710;ExcessHet=0;FS=0.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.7;ReadPosRankSum=1.5;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,49:92:99:0|1:73088754_C_A:1918,0,1650:73088754	18	0	1	0
chr17	73088755	73088755	C	A	exonic	SLC39A11	.	nonsynonymous SNV	SLC39A11:NM_001159770:exon2:c.G10T:p.G4C,SLC39A11:NM_001352692:exon2:c.G10T:p.G4C,SLC39A11:NM_001352693:exon2:c.G10T:p.G4C,SLC39A11:NM_139177:exon2:c.G10T:p.G4C,SLC39A11:NM_001352691:exon3:c.G10T:p.G4C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.708	0.184370283973	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1284147584	1.377e-06	1.368e-06	0	2.772e-06	2.37e-05	2.3e-07	9e-08	3.93e-06	1.47e-06	0	0	0	0	0	0	0	0	2.37e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.175	0.88760	M	-1.45	0.80899	T	-6.4	0.91184	D	0.68	0.68950	0.515	0.90762	D	0.687	0.89176	D	10	0.78153944	0.77895	D	0.18437	0.85745	D	0.708	0.89559	0.407	0.44066	0.843691188011	0.84220	0.7462415059915154	0.74570	0.640563242772	0.57683	0.602289557457	0.53229	T	0.208312	0.61363	T	0.388443	0.89234	D	0.320195	0.89098	D	0.989204347133636	0.79455	D	.	.	.	0.7963374	0.83672	0.6247116	0.78127	0.7963374	0.83674	0.6247116	0.78128	-13.92	0.92794	D	.	.	0.356	0.59567	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.753337	0.76773	26.6	0.97112065357700805	0.32417	0.97621	0.75959	D	AEFDBI	0.777256	0.71012	D	0.76427399371039	0.83832	8.121644	0.696195370934429	0.82090	7.681615	0.999999330030127	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.77	4.77	0.60425	5.162000	0.64785	7.347000	0.58277	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	13.721	0.62206	684	0.59539	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1904.33	34	chr17	73088755	.	C	A	1904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=708;ExcessHet=0;FS=0.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.7;ReadPosRankSum=1.66;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,49:92:99:0|1:73088754_C_A:1918,0,1650:73088754	18	0	1	0
chr17	73257728	73257728	T	C	exonic	CPSF4L	.	nonsynonymous SNV	CPSF4L:NM_001129885:exon3:c.A260G:p.Q87R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00719480268993	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1273185984	7.145e-07	6.84e-07	1.41e-06	0	9.268e-07	0	0	.	.	0	0	0	0	0	0	9.268e-07	0	0	2.629e-05	2.625e-05	3.858e-05	1.344e-05	4.412e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0.0034	4.412e-05	0	0	0.024	0.51853	D	0.025	0.56192	D	0.009	0.15093	B	0.012	0.16012	B	0.011478	0.29519	N	0.286282	0.896173	0.27790	N	1.44	0.36004	L	1.0	0.41392	T	-2.5	0.54382	D	0.138	0.14905	-0.9602	0.39143	T	0.107	0.38931	T	10	0.30203176	0.47742	T	0.007195	0.19061	T	0.096	0.27654	0.357	0.35897	0.0297737177859	0.01360	0.5976541235586237	0.59696	.	.	0.294129788876	0.09529	T	0.212905	0.57408	T	-0.248505	0.14283	T	-0.594736	0.13257	T	0.730234980583191	0.42222	D	0.777722	0.41150	T	0.18328576	0.39589	0.22134478	0.46942	0.18328576	0.39589	0.22134478	0.46941	-7.965	0.60831	D	.	.	0.108	0.37969	B	.;.	.;.	2.360321	0.30275	18.39	0.99249698569489586	0.56825	0.87903	0.47606	D	AEFDCI	0.714484	0.66695	D	-0.112559602518894	0.36846	2.135322	-0.0100856648436294	0.39257	2.324986	0.625536135693899	0.21922	0.516011	0.20929	0	0.588066	0.40923	0	0.577349	0.28860	0	0.613276	0.41899	0	.	.	4.99	3.89	0.44098	4.640000	0.61065	1.160000	0.24546	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.050000	0.15192	0.0:0.09:0.0:0.91	9.036	0.35449	416	0.81733	Zinc finger, CCCH-type|Zinc finger, CCCH-type;Zinc finger, CCCH-type|Zinc finger, CCCH-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2606.33	33	chr17	73257728	.	T	C	2606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.556;DP=824;ExcessHet=0;FS=3.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-1.445;SOR=0.655	GT:AD:DP:GQ:PL	0/1:92,112:204:99:2620,0,2364	18	0	1	0
chr17	74344842	74344842	G	A	exonic	KIF19	.	nonsynonymous SNV	KIF19:NM_153209:exon7:c.G664A:p.A222T	.	400	1113	9	0	0	9	0.00402685	.	.	.	727408	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.722	0.131045244326	0.0019	0.00139776	0.0026	0.0004	0.0015	0	0.0009	0.0032	0.0081	0.0043	0.002445	378	154602	rs34016821	0.0023	0.0023	0.0021	0.0024	0.0063	0.0022	0.0022	0.0047	0.0041	0.0003	0.0018	0.0046	2.519e-05	0.0010	0.0063	0.0022	0.0026	0.0047	0.0019	0.0019	0.0019	0.0019	0.0041	0.0017	0.0017	0.0027	0.0023	0.0003	0	0.0030	0.0049	0	0.0008	0.0204	0.0026	0.0019	0.0041	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.92359	D	.	.	.	.	1	0.81001	D	1.985	0.53793	M	-0.78	0.73631	T	-4.0	0.74051	D	0.623	0.63798	0.099	0.84154	D	0.541	0.83065	D	9	0.035112053	0.01746	T	0.131045	0.81326	D	0.722	0.90191	.	.	0.895603428102	0.89457	0.5371819583033458	0.53643	0.680600731235	0.60007	0.598223686218	0.52653	T	0.392017	0.75179	T	-0.128646	0.31715	T	0.0421518	0.73068	D	0.0362551188062024	0.03025	T	0.810219	0.75038	T	0.52735984	0.68680	0.6823055	0.81327	0.52735984	0.68681	0.6823055	0.81328	-10.858	0.78873	D	.	.	0.958	0.87779	P	.;.	.;.	5.712651	0.93179	33	0.99921471427946362	0.98787	0.95128	0.63540	D	AEFDGBI	0.740181	0.68451	D	0.637508803447298	0.75562	6.328073	0.604808948241817	0.75289	6.284179	0.999999999996387	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.631631	0.49550	0	.	.	5.49	5.49	0.81022	5.476000	0.66520	8.282000	0.76904	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.0:0.0:1.0:0.0	18.200	0.89769	773	0.48803	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain|Kinesin motor 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	0.004032	0.000000	0.002725	0.008772	0.000000	0.000000	0.000000	0.011364	0.02632	1095.33	33	chr17	74344842	.	G	A	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.765;DP=727;ExcessHet=0;FS=2.73;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-2.839;SOR=1.041	GT:AD:DP:GQ:PL	0/1:44,50:94:99:1109,0,1012	18	0	1	0
chr17	74369559	74369559	G	A	exonic	GPR142	.	nonsynonymous SNV	GPR142:NM_001331076:exon2:c.G19A:p.G7R,GPR142:NM_001331077:exon2:c.G19A:p.G7R,GPR142:NM_181790:exon2:c.G335A:p.R112Q	.	403	1105	13	1	0	15	0.00674157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0007	0.000599042	0.0012	0.0007	0.0110	0	0	0.0019	0	0.0003	0.0005886	91	154602	rs145323799	0.0009	0.0009	0.0008	0.0009	0.0170	0.0008	0.0008	0.0143	0.0133	0.0006	0.0029	0.0023	0	4.043e-05	0.0170	0.0007	0.0016	0.0007	0.0008	0.0008	0.0008	0.0009	0.0031	0.0007	0.0007	0.0024	0.0021	0.0002	0	0.0031	0.0009	0	0	0.0171	0.0007	0.0028	0.0008	0.224	0.18691	T	0.0	0.92824	D	0.01	0.15535	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.33	0.68329	T	-0.25	0.11008	N	0.093	0.07262	-1.0490	0.14677	T	0.104	0.38144	T	9	0.0051439106	0.00112	T	.	.	.	0.033	0.08068	.	.	0.576774385015	0.57347	0.13291447171295942	0.13215	0.132070076647	0.14885	0.214999228716	0.01041	T	0.004042	0.03453	T	-0.626178	0.00101	T	-0.675288	0.07273	T	0.0195211494218683	0.00656	T	0.481052	0.14533	T	0.023863943	0.01163	0.031542506	0.01758	0.023863943	0.01163	0.031542506	0.01758	-3.376	0.14735	T	.	.	0.081	0.08224	B	.	.	0.701099	0.10700	7.393	0.99516629065824425	0.68979	0.00876	0.03464	N	AEFGBI	0.045987	0.07585	N	-1.11083181261541	0.06449	0.2969175	-1.13407542532562	0.07057	0.3418765	0.201582896513629	0.18130	0.615755	0.39536	0	0.607795	0.50457	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	3.58	-3.08	0.05022	-0.865000	0.04358	-1.484000	0.05335	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.092000	0.17891	0.3907:0.0:0.4503:0.159	4.250	0.10142	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015432	0.015152	0.016949	0.026786	0.000000	0.017544	0.009259	0.003876	0.02632	2456.33	35	chr17	74369559	.	G	A	2456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.678;DP=788;ExcessHet=0;FS=5.493;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-1.778;SOR=0.451	GT:AD:DP:GQ:PL	0/1:74,97:171:99:2470,0,1794	18	0	1	0
chr17	74446999	74446999	G	A	exonic;splicing	GPRC5C;GPRC5C	NM_001366261:exon4:c.1296+1G>A	nonsynonymous SNV	GPRC5C:NM_001366262:exon4:c.G1297A:p.V433I,GPRC5C:NM_018653:exon4:c.G1297A:p.V433I,GPRC5C:NM_022036:exon4:c.G1297A:p.V433I	.	422	1087	13	0	0	13	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0197678881549	0.0010	0.000798722	0.0012	0.0002	0.0030	0	0	0.0015	0.0022	0.0007	0.0011772	182	154602	rs139362972	0.0010	0.0010	0.0009	0.0010	0.0239	0.0009	0.0009	0.0207	0.0194	0.0009	0.0023	0.0036	0	1.873e-05	0.0239	0.0008	0.0019	0.0008	0.0011	0.0011	0.0010	0.0011	0.0032	0.0009	0.0009	0.0025	0.0022	0.0003	0.0011	0.0032	0.0032	0	0	0.0374	0.0010	0.0024	0.0012	0.063	0.36709	T	0.0	0.92824	D	0.11	0.26188	B	0.082	0.29098	B	0.868097	0.07159	N	1.064850	1	0.81001	D	.	.	.	2.12	0.19726	T	-0.13	0.08971	N	0.285	0.49783	-1.0014	0.29516	T	0.038	0.16462	T	10	0.005319476	0.00117	T	0.019768	0.42216	T	0.073	0.21317	.	.	0.152612264143	0.14878	.	.	0.453800598545	0.45067	0.425628244877	0.28611	T	0.017135	0.14032	T	-0.511414	0.00493	T	-0.512314	0.21077	T	0.0451563023148163	0.04630	T	0.805019	0.45286	T	.	.	.	.	.	.	.	.	-4.325	0.28526	T	.	.	0.135	0.29283	B	.;.;.	.;.;.	4.280297	0.65190	24.8	0.90540670556225877	0.19796	0.73187	0.35803	D	AEFDGBHCI	0.607745	0.59759	D	-0.469815302335296	0.23074	1.236529	-0.327073127107493	0.27228	1.50936	0.999909565584267	0.45458	0.695654	0.57023	0	0.593476	0.48661	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.63	3.65	0.40985	4.082000	0.57357	11.826000	0.97381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1698:0.0:0.8302:0.0	8.975	0.35094	693	0.58582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021148	0.000000	0.025815	0.064327	0.000000	0.025862	0.015244	0.000000	0.02632	901.33	33	chr17	74446999	.	G	A	901.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.701;DP=705;ExcessHet=0;FS=2.215;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.054;SOR=0.412	GT:AD:DP:GQ:PL	0/1:30,34:64:99:915,0,843	18	0	1	0
chr17	74729265	74729265	G	T	exonic	RAB37	.	nonsynonymous SNV	RAB37:NM_175738:exon2:c.G82T:p.V28L	.	435	1061	25	1	0	27	0.012564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.0689948728007	0.0005	0.000599042	0.0009	0.0002	0.0021	0	0	0.0012	0.0033	0.0004	0.0009379	145	154602	rs140336944	0.0007	0.0007	0.0006	0.0007	0.0170	0.0006	0.0006	0.0143	0.0133	0.0010	0.0014	0.0022	0	1.872e-05	0.0170	0.0005	0.0014	0.0006	0.0008	0.0008	0.0008	0.0008	0.0020	0.0007	0.0006	0.0015	0.0013	0.0003	0	0.0020	0.0035	0	0	0.0136	0.0008	0.0038	0.0004	0.526	0.08067	T	0.251	0.23638	T	0.004	0.12183	B	0.01	0.14941	B	.	.	.	.	0.726816	0.29868	N	.	.	.	-1.03	0.76430	T	0.65	0.02332	N	0.636	0.66358	-0.7455	0.58170	T	0.225	0.58982	T	9	0.044011146	0.03312	T	0.068995	0.70606	D	0.306	0.62729	0.668	0.80602	0.557953424633	0.55455	.	.	.	.	.	.	.	.	.	.	-0.290497	0.09587	T	-0.220135	0.52724	T	0.0432263566364833	0.04278	T	0.950905	0.81786	D	.	.	.	.	.	.	.	.	-3.385	0.14855	T	.	.	0.461	0.62767	A	.;.	.;.	2.323430	0.29754	18.22	0.98899618855865357	0.48163	0.97683	0.76388	D	AEFGBI	0.853886	0.77088	D	-0.0638143658952433	0.38988	2.292037	0.170692603264838	0.48248	3.04338	0.999999999964245	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.09	5.09	0.68647	7.362000	0.78764	6.482000	0.55739	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	16.350	0.83035	586	0.69252	Small GTP-binding protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.005051	0.010870	0.043860	0.000000	0.034483	0.012195	0.000000	0.02632	1490.33	34	chr17	74729265	.	G	T	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.356;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=1.09;SOR=0.656	GT:AD:DP:GQ:PL	0/1:70,60:130:99:1504,0,1719	18	0	1	0
chr17	74893569	74893569	A	0	exonic	FADS6	.	.	.	.	427	899	3	0	193	196	0.00166574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	810.55	60	chr17	74893569	.	A	*	810.55	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.891;DP=1146;ExcessHet=0.6689;FS=3.245;InbreedingCoeff=0.0483;MLEAC=7;MLEAF=0.184;MQ=59.31;MQRankSum=-2.9;QD=2.05;ReadPosRankSum=2.93;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,15:65:99:.:.:403,0,1774:.	13	1	5	0
chr17	75498310	75498310	G	T	exonic	TMEM94	.	nonsynonymous SNV	TMEM94:NM_001321148:exon27:c.G3655T:p.V1219F,TMEM94:NM_001351203:exon27:c.G3652T:p.V1218F,TMEM94:NM_001321149:exon28:c.G3637T:p.V1213F,TMEM94:NM_001351202:exon28:c.G3577T:p.V1193F,TMEM94:NM_014738:exon28:c.G3625T:p.V1209F	.	408	1095	19	0	0	19	0.00860118	.	.	.	1327950	not_provided|not_specified|Inborn_genetic_diseases	MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.204	0.155056088545	0.0007	.	0.0008	0	0.0008	0	0	0.0011	0.0022	0.0008	0.0006792	105	154602	rs148064514	0.0006	0.0006	0.0006	0.0007	0.0113	0.0006	0.0006	0.0091	0.0083	0.0002	0.0009	3.826e-05	0	0	0.0113	0.0006	0.0013	0.0014	0.0008	0.0008	0.0007	0.0009	0.0019	0.0007	0.0006	0.0010	0.0008	0.0002	0	0.0010	0	0	0	0.0238	0.0010	0.0038	0.0019	0.006	0.61437	D	0.15	0.70582	T	0.033	0.20350	B	0.044	0.24394	B	0.000248	0.46924	D	0.184663	0.998832	0.21869	N	.	.	.	-2.36	0.88143	D	0.37	0.03639	N	0.429	0.56748	-0.5993	0.64846	T	0.381	0.73759	T	10	0.023793697	0.00633	T	0.155056	0.83607	D	0.204	0.49076	.	.	0.579330864044	0.57603	0.6207233054074198	0.62005	0.710468945944	0.61684	0.372884333134	0.21245	T	0.295438	0.66810	T	-0.269809	0.11778	T	-0.195716	0.55051	T	0.0469187983756869	0.04951	T	0.775922	0.41827	T	0.1678509	0.37206	0.11175337	0.26959	0.20570216	0.42720	0.0975176	0.23214	-2.715	0.07430	T	.	.	0.128	0.29833	B	.;.;.;.;.	.;.;.;.;.	2.500577	0.32279	18.99	0.93800537670540718	0.23769	0.68280	0.33742	D	AEFDGBCIJ	0.215676	0.34101	N	-0.71056249755274	0.15724	0.7949536	-0.525978678368697	0.21449	1.160364	0.919339152586816	0.26598	0.722319	0.85440	0	0.702456	0.74545	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.71	3.51	0.39297	2.678000	0.46566	0.576000	0.19656	-0.122000	0.13826	1.000000	0.71638	0.003000	0.18671	0.955000	0.50612	0.7266:0.131:0.1424:0.0	6.519	0.21463	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;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.007553	0.005051	0.012228	0.008772	0.000000	0.017241	0.003049	0.003788	0.02632	3285.33	34	chr17	75498310	.	G	T	3285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.24;DP=863;ExcessHet=0;FS=1.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=0.968;SOR=0.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,88:202:99:0|1:75498310_G_T:3299,0,4399:75498310	18	0	1	0
chr17	75498319	75498319	C	T	exonic	TMEM94	.	nonsynonymous SNV	TMEM94:NM_001321148:exon27:c.C3664T:p.P1222S,TMEM94:NM_001351203:exon27:c.C3661T:p.P1221S,TMEM94:NM_001321149:exon28:c.C3646T:p.P1216S,TMEM94:NM_001351202:exon28:c.C3586T:p.P1196S,TMEM94:NM_014738:exon28:c.C3634T:p.P1212S	.	406	1097	19	0	0	19	0.00858563	.	.	.	1327951	not_provided|not_specified|Inborn_genetic_diseases	MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.199	0.0265717152823	0.0007	.	0.0008	0	0.0008	0	0	0.0011	0.0022	0.0008	0.0006856	106	154602	rs141765616	0.0006	0.0006	0.0006	0.0007	0.0113	0.0006	0.0006	0.0091	0.0083	0.0002	0.0009	3.826e-05	0	0	0.0113	0.0006	0.0013	0.0014	0.0008	0.0008	0.0007	0.0009	0.0019	0.0007	0.0006	0.0010	0.0008	0.0002	0	0.0010	0	0	0	0.0238	0.0010	0.0038	0.0019	0.827	0.02913	T	0.609	0.13403	T	0.0	0.02946	B	0.002	0.06944	B	0.360675	0.04301	N	1.331460	0.999393	0.21260	N	.	.	.	-2.36	0.88143	D	0.42	0.03352	N	0.193	0.29313	-0.7209	0.59419	T	0.453	0.78621	T	10	0.020075351	0.00457	T	0.026572	0.49466	D	0.199	0.48268	.	.	0.514980250562	0.51141	0.22415191290823233	0.22330	0.391401638169	0.40341	0.286209315062	0.08373	T	0.272944	0.64536	T	-0.371477	0.03520	T	-0.341756	0.40145	T	0.0125577934538829	0.00208	T	0.660434	0.27701	T	0.047313605	0.08068	0.03554286	0.02826	0.03522418	0.04104	0.037586853	0.03443	-2.854	0.08691	T	.	.	0.086	0.10931	B	.;.;.;.;.	.;.;.;.;.	1.281978	0.16821	12.78	0.87437724592021837	0.17227	0.42503	0.26892	N	AEFDBCI	0.144054	0.26692	N	-0.704332760368338	0.15900	0.8054004	-0.612691771486698	0.19167	1.027169	0.363836436511243	0.19803	0.722319	0.85440	0	0.702456	0.74545	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.71	-0.382	0.11860	0.375000	0.20248	0.183000	0.15654	0.549000	0.26987	0.834000	0.30193	0.014000	0.20376	0.940000	0.48062	0.37:0.377:0.1197:0.1333	2.688	0.04796	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;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.007553	0.005051	0.012228	0.008772	0.000000	0.017241	0.003049	0.003788	0.02632	3399.33	34	chr17	75498319	.	C	T	3399.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.417;DP=865;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.58;ReadPosRankSum=-0.23;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,92:205:99:0|1:75498310_G_T:3413,0,4341:75498310	18	0	1	0
chr17	75570237	75570237	G	T	exonic	LLGL2	.	nonsynonymous SNV	LLGL2:NM_001031803:exon15:c.G1856T:p.R619L,LLGL2:NM_004524:exon15:c.G1856T:p.R619L	.	424	1078	20	0	0	20	0.00919118	.	.	.	2761097	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.091	0.0363862124626	0.0005	.	0.0012	0	0.0012	0	0	0.0015	0.0043	0.0013	0.0006792	105	154602	rs143998947	0.0006	0.0006	0.0006	0.0007	0.0129	0.0006	0.0006	0.0106	0.0097	0.0002	0.0008	0	0	1.96e-05	0.0129	0.0005	0.0014	0.0014	0.0007	0.0007	0.0007	0.0008	0.0014	0.0006	0.0006	0.0008	0.0008	0.0002	0	0.0008	0	0	0	0.0238	0.0010	0.0033	0.0014	0.178	0.25355	T	0.142	0.33330	T	0.175	0.41742	B	0.168	0.38861	B	0.002932	0.35704	N	0.326855	0.746186	0.33877	D	2.125	0.59049	M	0.79	0.49068	T	-3.77	0.71397	D	0.513	0.54409	-0.9196	0.45608	T	0.105	0.38415	T	10	0.06448898	0.08560	T	0.036386	0.56958	D	0.091	0.26358	.	.	0.558147714631	0.55475	0.41642608439942025	0.41558	0.389253285072	0.40171	0.532017409801	0.43319	T	0.28567	0.65846	T	-0.432347	0.01435	T	-0.41844	0.31254	T	0.111242760659551	0.13552	T	0.949505	0.80758	D	0.23143163	0.45915	0.1703636	0.39139	0.23143163	0.45915	0.1703636	0.39138	-8.587	0.65003	D	.	.	0.175	0.40984	B	.;.;.	.;.;.	3.482967	0.48648	22.6	0.93524408447260299	0.23343	0.85872	0.45056	D	AEFBI	0.422925	0.48872	N	-0.315264236871001	0.28568	1.576782	-0.345125943746464	0.26660	1.474027	0.206244299188189	0.18184	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.19	-2.74	0.05582	1.413000	0.34333	4.458000	0.43448	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.5568:0.0:0.3158:0.1274	6.124	0.19389	979	0.04160	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009109	0.010417	0.013661	0.011765	0.000000	0.017241	0.006173	0.003788	0.02632	1141.33	40	chr17	75570237	.	G	T	1141.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=2.18;SOR=0.612	GT:AD:DP:GQ:PL	0/1:52,42:94:99:1155,0,1322	18	0	1	0
chr17	75624011	75624011	C	A	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon54:c.C8105A:p.T2702N	.	410	1106	6	0	0	6	0.00270514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs751550489	0.0003	0.0003	0.0003	0.0003	0.0081	0.0003	0.0003	0.0059	0.0052	6.326e-05	0.0006	0	0	0	0.0081	0.0003	0.0009	9.558e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	4.811e-05	0	0.0008	0.0003	0	0	0.0170	0.0003	0.0024	0	.	.	.	0.403	0.14865	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.124	0.11626	-0.5810	0.65578	T	0.497	0.80946	T	8	0.054035902	0.05690	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002916	0.02309	T	.	.	.	.	.	.	.	.	.	0.641436	0.25361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.19357	B	.;.	.;.	0.519081	0.08879	5.658	0.76614137560323259	0.11539	0.04785	0.10499	N	AEFBCI	.	.	.	-0.79555855345723	0.13425	0.6612687	-0.805839432362407	0.14354	0.7495772	0.993954104947561	0.33426	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.421255	0.06892	1	0.115792	0.24182	4.47	2.45	0.28953	-0.211000	0.09336	1.169000	0.24610	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.390000	0.26558	0.3085:0.6049:0.0:0.0866	6.798	0.22921	976	0.04745	MyTH4 domain|MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain|MyTH4 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2469.33	86	chr17	75624011	.	C	A	2469.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.196;DP=1666;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=0.788;SOR=0.689	GT:AD:DP:GQ:PL	0/1:53,88:141:99:2483,0,1369	18	0	1	0
chr17	75828014	75828014	C	A	exonic	UNC13D	.	nonsynonymous SNV	UNC13D:NM_199242:exon32:c.G3224T:p.R1075L	Hemophagocytic lymphohistiocytosis, familial, 3	0	1520	2	0	0	2	0.000657462	.	.	YES	938223	not_provided|Familial_hemophagocytic_lymphohistiocytosis_3	MedGen:C3661900|MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.438	0.157606483225	.	.	.	.	.	.	.	.	.	.	.	.	.	rs377594755	1.664e-05	1.642e-05	1.653e-05	1.676e-05	0.0011	1.126e-05	9.46e-06	0.0005	0.0003	0	0	0	0	0	0.0011	1.45e-05	0	2.393e-05	1.969e-05	1.968e-05	2.569e-05	1.342e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0.0003	0	0	0.0034	1.47e-05	0	0	0.003	0.68238	D	0.006	0.70582	D	0.996	0.68779	D	0.889	0.63100	P	0.019353	0.27277	N	0.327701	0.999529	0.47407	D	2.79	0.81396	M	-0.63	0.72785	T	-3.62	0.69593	D	0.391	0.57775	-0.1599	0.78673	T	0.431	0.77258	T	10	0.53828615	0.63573	D	0.157606	0.83816	D	0.438	0.74235	0.459	0.52590	0.80614021022	0.80432	0.6466818981652382	0.64603	0.365555439521	0.38146	0.528571367264	0.42832	T	0.49968	0.82059	T	0.0777429	0.61776	D	-0.0160457	0.69288	D	0.93242073059082	0.59846	D	0.90211	0.65873	D	0.2760778	0.50670	0.2871783	0.54728	0.2760778	0.50670	0.2871783	0.54727	-6.186	0.53078	T	0.3318502247317745	0.42985	0.214	0.54213	B	.;.	.;.	3.702885	0.52822	23.3	0.99780849370933611	0.86780	0.89195	0.49515	D	ALL	0.638773	0.61707	D	0.454003161807005	0.64429	4.697465	0.410755183465262	0.62234	4.435446	0.999999999798637	0.74766	0.631981	0.41245	0	0.779548	0.99637	0	0.338622	0.05889	2	0.249971	0.05119	0	.	.	5.37	4.4	0.52402	2.576000	0.45698	0.405000	0.18046	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.816000	0.38450	0.0:0.8486:0.0:0.1514	11.347	0.48804	945	0.12563	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	876.33	36	chr17	75828014	.	C	A	876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.073;DP=746;ExcessHet=0;FS=4.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.106;SOR=0.34	GT:AD:DP:GQ:PL	0/1:34,36:70:99:890,0,788	18	0	1	0
chr17	76688233	76688233	-	G	exonic	MXRA7	.	frameshift insertion	MXRA7:NM_001363769:exon1:c.414dupC:p.T139Hfs*13	.	418	1100	3	1	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0054	0.00299521	0.0017	0.0126	0.0015	0	0.0002	0.0006	0.0016	0.0002	0.0001921	5	26028	rs143474444	0.0004	0.0005	0.0005	0.0004	0.0117	0.0004	0.0004	0.0108	0.0104	0.0117	0.0007	3.867e-05	2.521e-05	0.0002	0.0007	0.0001	0.0006	0.0002	0.0030	0.0031	0.0031	0.0030	0.0107	0.0028	0.0027	0.0098	0.0095	0.0107	0	0.0003	0	0	9.477e-05	0.0034	0.0001	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1902.29	40	chr17	76688233	.	T	TG	1902.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.213;DP=840;ExcessHet=0;FS=1.212;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.372;SOR=0.83	GT:AD:DP:GQ:PL	0/1:87,80:167:99:1916,0,2156	18	0	1	0
chr17	81447737	81447737	C	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon11:c.C3865A:p.P1289T,BAHCC1:NM_001291324:exon12:c.C3958A:p.P1320T	.	411	1091	19	1	0	21	0.00953246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.00758786	0.0143	0	0.0021	0.0009	0	0.0018	0.0041	0.0412	0.003965	613	154602	rs374971809	0.0044	0.0045	0.0023	0.0062	0.0351	0.0043	0.0042	0.0339	0.0334	0.0001	0.0003	0.0032	6.017e-05	2.071e-05	0.0037	0.0005	0.0024	0.0351	0.0014	0.0014	0.0007	0.0020	0.0366	0.0012	0.0011	0.0322	0.0305	4.813e-05	0	0.0003	0.0020	0	0	0	0.0002	0.0009	0.0366	0.007	0.59928	D	0.531	0.10354	T	0.16	0.28337	B	0.055	0.25995	B	0.098425	0.19981	U	0.264450	1	0.08975	N	.	.	.	1.86	0.24285	T	-2.46	0.53736	N	0.112	0.12198	-1.0439	0.16148	T	0.040	0.17362	T	10	0.0033987164	0.00059	T	.	.	.	0.010	0.01040	.	.	0.0138822411134	0.00435	0.19832548076815823	0.19749	0.133200117831	0.15002	0.348290145397	0.17670	T	0.021605	0.16798	T	-0.5989	0.00148	T	-0.607987	0.12149	T	0.00799035929684558	0.00094	T	0.550145	0.18957	T	0.03303102	0.03441	0.038209654	0.03641	0.03303102	0.03441	0.038209654	0.03640	-4.344	0.28789	T	.	.	0.075	0.05711	B	.;.	.;.	0.322674	0.06969	3.522	0.57146924706312652	0.05705	0.08754	0.14637	N	AEFBHCI	0.046865	0.07830	N	-1.09240517373598	0.06782	0.313204	-1.15358905926024	0.06703	0.3235752	0.00412081803100164	0.10422	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.87	0.691	0.17208	0.114000	0.15353	0.153000	0.15315	-0.903000	0.02311	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6942:0.0:0.3058	7.196	0.25030	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010682	0.005102	0.009615	0.000000	0.050000	0.000000	0.012422	0.023077	0.02632	1608.33	110	chr17	81447737	.	C	A	1608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=1051;ExcessHet=0;FS=5.511;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-2.652;SOR=0.363	GT:AD:DP:GQ:PL	0/1:62,63:125:99:1622,0,1471	18	0	1	0
chr18	8786033	8786033	G	A	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon6:c.G2909A:p.R970H,MTCL1:NM_001378206:exon6:c.G2909A:p.R970H,MTCL1:NM_001378207:exon6:c.G2909A:p.R970H,MTCL1:NM_015210:exon7:c.G1829A:p.R610H	.	420	1031	66	5	0	76	0.0355472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0049	0.00738818	0.0128	0.0016	0.0385	0.0150	0	0.0098	0.0254	0.0148	0.0082987	1283	154602	rs202096044	0.0076	0.0076	0.0073	0.0079	0.0433	0.0075	0.0075	0.0385	0.0367	0.0028	0.0227	0.0129	0.0136	0.0003	0.0433	0.0067	0.0096	0.0103	0.0068	0.0069	0.0067	0.0070	0.0128	0.0065	0.0063	0.0114	0.0108	0.0021	0.0462	0.0128	0.0130	0.0118	9.482e-05	0.0514	0.0073	0.0157	0.0123	0.18	0.30943	T	0.188	0.37730	T	0.048	0.22112	B	0.015	0.17295	B	0.325834	0.14195	N	0.591474	0.596131	0.81001	D	1.355	0.33814	L	0.71	0.51228	T	-1.8	0.45042	N	0.39	0.43126	-1.0737	0.08619	T	0.060	0.25163	T	10	0.0044347644	0.00091	T	.	.	.	0.055	0.15663	.	.	0.40417439687	0.40030	0.12613992147701064	0.12539	0.128050012963	0.14436	0.463122904301	0.33739	T	0.066765	0.33029	T	-0.46786	0.00877	T	-0.426572	0.30325	T	0.0151532797344599	0.00330	T	0.836316	0.50742	T	0.06137621	0.12703	0.08209207	0.18710	0.06137621	0.12703	0.08209207	0.18709	-3.825	0.25980	T	.	.	0.095	0.20741	B	.;.;.;.	.;.;.;.	3.117161	0.42069	21.5	0.99017006908003979	0.50484	0.93051	0.57203	D	AEFDBCI	0.467063	0.51445	N	-0.413658461604611	0.24990	1.353313	-0.372666341141941	0.25815	1.422005	0.999997622467162	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.54	2.74	0.31352	4.533000	0.60328	0.857000	0.22192	0.672000	0.70159	1.000000	0.71638	0.000000	0.08366	0.360000	0.25886	0.2033:0.0:0.7967:0.0	11.209	0.48015	900	0.24599	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.040692	0.032967	0.038147	0.062130	0.000000	0.060345	0.024540	0.030534	0.05263	1424.83	28	chr18	8786033	.	G	A	1424.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.36;DP=724;ExcessHet=0.119;FS=0.749;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=0.876;SOR=0.835	GT:AD:DP:GQ:PL	0/1:34,46:80:99:1190,0,769	17	0	2	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	121308.0	599	chr18	9887397	.	C	*	121308.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.27;DP=10943;ExcessHet=0.0506;FS=0;InbreedingCoeff=0.3091;MLEAC=16;MLEAF=0.421;MQ=59.34;MQRankSum=1.04;QD=14.78;ReadPosRankSum=0.235;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:11,400:648:99:.:.:14694,6703,8379:.	6	3	10	0
chr18	11887006	11887006	C	T	exonic	MPPE1	.	nonsynonymous SNV	MPPE1:NM_001242904:exon6:c.G589A:p.V197M,MPPE1:NM_001319154:exon7:c.G589A:p.V197M,MPPE1:NM_001330563:exon7:c.G589A:p.V197M,MPPE1:NM_023075:exon7:c.G589A:p.V197M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	.	0.0044	0.00519169	0.0012	0.0141	0.0002	0.0001	0	0	0	0	0.0012096	187	154602	rs35611363	0.0004	0.0004	0.0005	0.0004	0.0142	0.0004	0.0004	0.0131	0.0127	0.0142	0.0005	0	5.042e-05	0	0.0003	3.96e-05	0.0008	3.48e-05	0.0039	0.0039	0.0042	0.0035	0.0129	0.0036	0.0035	0.0120	0.0116	0.0129	0	0.0029	0	0	0	0	2.94e-05	0.0024	0	0.725	0.06847	T	0.998	0.02320	T	0.559	0.90584	P	0.215	0.71741	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.1	0.28011	L	2.34	0.69657	T	-0.23	0.10656	N	0.549	0.57518	-1.1295	0.01806	T	0.028	0.11838	T	10	0.010538697	0.00234	T	.	.	.	0.198	0.48105	.	.	0.79001731168	0.78807	0.7896201543826606	0.78914	0.178683317047	0.20107	0.611701965332	0.54557	T	0.168872	0.51604	T	-0.316875	0.07157	T	-0.216269	0.53096	T	0.0415411342613355	0.03971	T	0.90081	0.66975	D	0.04009204	0.05657	0.072697856	0.15715	0.04009204	0.05657	0.072697856	0.15714	-2.35	0.12763	T	.	.	0.181	0.55998	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.977673	0.25127	16.65	0.83328649358514684	0.14666	0.95419	0.64646	D	AEFDGBI	0.517186	0.54341	D	-0.378325586930352	0.26242	1.43075	-0.364797720059878	0.26054	1.436739	0.999999990907247	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	5.2	3.42	0.38259	4.740000	0.61783	0.597000	0.19884	-0.176000	0.10722	1.000000	0.71638	0.087000	0.22477	0.135000	0.19760	0.0:0.8537:0.0:0.1463	11.428	0.49268	906	0.23090	Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;.;.;Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;.;Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	902.33	34	chr18	11887006	.	C	T	902.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.91;DP=772;ExcessHet=0;FS=3.291;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=2.39;SOR=1.179	GT:AD:DP:GQ:PL	0/1:39,33:72:99:916,0,877	18	0	1	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2941	5491.12	187	chr18	14513679	.	T	G	5491.12	.	AC=10;AF=0.294;AN=34;BaseQRankSum=3.02;DP=4174;ExcessHet=6.9875;FS=11.886;InbreedingCoeff=-0.4081;MLEAC=11;MLEAF=0.324;MQ=50.93;MQRankSum=-9.351;QD=2.03;ReadPosRankSum=-3.085;SOR=1.891	GT:AD:DP:GQ:PL	0/1:271,35:306:99:132,0,6921	7	0	10	2
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	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	0.004028	0.000000	0.000000	0.000000	0.000000	0.008621	0.012195	0.011364	0.02632	2064.33	35	chr18	21573514	.	G	A	2064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.146;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=0.218;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,60:135:99:0|1:21573514_G_A:2078,0,2821:21573514	18	0	1	0
chr18	23561498	23561498	C	A	exonic	NPC1	.	nonsynonymous SNV	NPC1:NM_000271:exon5:c.G493T:p.A165S	Niemann-Pick disease, type C1, Autosomal recessive;Niemann-Pick disease, type D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	0.171104345665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.407	0.14679	T	0.0	0.02946	B	0.005	0.11217	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.825	0.47900	L	-2.66	0.90272	D	-1.06	0.27669	N	0.395	0.43610	0.010	0.82451	D	0.641	0.87473	D	10	0.36760765	0.53224	T	0.171104	0.84847	D	0.408	0.72022	0.402	0.43245	0.809956302614	0.80817	0.8098238456092971	0.80937	0.240613665134	0.26601	0.544283509254	0.45051	T	0.510	0.82668	D	0.199126	0.73810	D	0.0482543	0.73467	D	0.522896136342766	0.33472	D	0.860114	0.55285	D	0.46299222	0.64857	0.40005478	0.64552	0.46299222	0.64858	0.40005478	0.64552	-3.882	0.22032	T	0.14736072981254628	0.17071	0.122	0.25396	B	.	.	3.171445	0.43013	21.6	0.99112789789038425	0.52776	0.99025	0.90130	D	AEFDBI	0.680430	0.64413	D	0.0115427499798247	0.42380	2.552371	0.198374826158291	0.49758	3.175255	0.999998707308992	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	4.858000	0.62646	5.942000	0.51497	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.326	0.94249	600	0.68026	Niemann-Pick C1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	870.33	34	chr18	23561498	.	C	A	870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.359;DP=686;ExcessHet=0;FS=0.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-0.502;SOR=0.54	GT:AD:DP:GQ:PL	0/1:34,33:67:99:884,0,955	18	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3348.45	99	chr18	31541297	.	G	A	3348.45	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.192;DP=1152;ExcessHet=25.4433;FS=375.107;InbreedingCoeff=-0.7874;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=1.09;SOR=12.356	GT:AD:DP:GQ:PL	0/1:25,19:44:99:129,0,424	2	0	16	1
chr18	37067197	37067197	G	A	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353919:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353918:exon7:c.G872A:p.C291Y,KIAA1328:NM_020776:exon7:c.G884A:p.C295Y,KIAA1328:NM_001353920:exon8:c.G32A:p.C11Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	417.83	33	chr18	37067197	.	G	A	417.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-6.579;DP=1883;ExcessHet=0.119;FS=160.238;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=1.97;SOR=10.341	GT:AD:DP:GQ:PL	0/1:189,48:248:99:327,0,4129	17	0	2	0
chr18	45038637	45038637	G	T	exonic	SETBP1	.	nonsynonymous SNV	SETBP1:NM_001379141:exon5:c.G4153T:p.A1385S,SETBP1:NM_001379142:exon5:c.G4153T:p.A1385S,SETBP1:NM_015559:exon5:c.G4153T:p.A1385S	Mental retardation, autosomal dominant 29, Autosomal dominant;Schinzel-Giedion midface retraction syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0141821831964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.482	0.08188	T	0.463	0.12491	T	0.001	0.07471	B	0.004	0.10090	B	0.003732	0.34560	N	0.284575	0.999977	0.18612	N	0	0.06538	N	-0.25	0.67011	T	-0.32	0.12283	N	0.256	0.28965	-1.0304	0.20325	T	0.109	0.39368	T	10	0.035984755	0.01873	T	0.014182	0.34122	T	0.045	0.12272	0.176	0.08257	0.158540857583	0.15491	0.2788893787398859	0.27801	0.235386868159	0.26070	0.351251006126	0.18106	T	0.124271	0.44920	T	-0.171408	0.25022	T	-0.483992	0.24022	T	0.0577300861477852	0.06807	T	0.676632	0.28519	T	0.028133338	0.02105	0.048564192	0.07240	0.028133338	0.02104	0.048564192	0.07240	-3.059	0.10831	T	0.056524919561080425	0.01318	0.072	0.04356	B	.;.	.;.	1.119960	0.15057	11.55	0.4873317164918034	0.04091	0.09117	0.14936	N	AEFBI	0.034514	0.04287	N	-0.98722413135763	0.08875	0.4178742	-0.867098705567318	0.12877	0.6649477	0.0130070570547366	0.12403	0.562547	0.31514	0	0.653731	0.59785	0	0.608524	0.38960	0	0.564101	0.26826	0	.	.	5.84	3.03	0.34070	0.796000	0.26646	5.723000	0.49481	-0.123000	0.13640	0.331000	0.25598	1.000000	0.68203	0.224000	0.22571	0.1362:0.0:0.5807:0.2831	7.104	0.24535	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1237.33	37	chr18	45038637	.	G	T	1237.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.333;DP=745;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.878;SOR=0.786	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1251,0,1572	18	0	1	0
chr18	45837719	45837719	G	A	exonic	SIGLEC15	.	nonsynonymous SNV	SIGLEC15:NM_213602:exon3:c.G319A:p.A107T	.	427	1063	30	2	0	34	0.0157407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	.	0.00299521	0.0204	0	0.0342	0	0.125	0.0092	0.0319	0.0248	0.0023738	367	154602	rs62095363	0.0037	0.0036	0.0032	0.0042	0.0191	0.0036	0.0036	0.0183	0.0180	0.0003	0.0010	0.0080	0	0.0010	0.0090	0.0028	0.0038	0.0191	0.0028	0.0028	0.0028	0.0028	0.0190	0.0026	0.0025	0.0159	0.0147	0.0007	0	0.0012	0.0078	0	0.0003	0.0034	0.0036	0.0052	0.0190	0.515	0.07378	T	0.324	0.18903	T	0.062	0.23277	B	0.033	0.22329	B	0.033438	0.24899	N	0.377486	1	0.24643	N	-0.28	0.03718	N	-0.02	0.62918	T	-0.07	0.08033	N	0.093	0.07262	-1.0649	0.10572	T	0.063	0.26208	T	10	0.0019133389	0.00026	T	.	.	.	0.089	0.25827	.	.	0.468504517574	0.46476	0.34350939334654673	0.34263	0.492210877652	0.47877	0.825304865837	0.85843	D	0.001769	0.01195	T	-0.583491	0.00184	T	-0.594664	0.13264	T	0.0102953173564013	0.00140	T	0.507849	0.16117	T	0.05689249	0.11252	0.07087038	0.15110	0.05689249	0.11252	0.07087038	0.15110	-6.549	0.50663	T	.	.	0.085	0.10304	B	.	.	3.451763	0.48069	22.6	0.98895844859401605	0.48091	0.21767	0.21517	N	AEFDBHCIJ	0.116215	0.22818	N	-0.629701454152184	0.18055	0.9343636	-0.501972471921448	0.22099	1.198679	0.999999995230794	0.74766	0.55562	0.30534	0	0.68496	0.65989	0	0.606814	0.37721	0	0.765457	0.99879	0	.	.	3.55	2.66	0.30672	1.703000	0.37465	8.228000	0.76834	0.590000	0.31872	0.012000	0.18695	1.000000	0.68203	0.990000	0.65344	0.2953:0.0:0.7046:0.0	6.395	0.20808	977	0.04225	Immunoglobulin V-set 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	0.011339	0.000000	0.005865	0.006369	0.055556	0.008929	0.019868	0.031496	0.02632	633.33	34	chr18	45837719	.	G	A	633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.226;DP=701;ExcessHet=0;FS=2.466;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=1.2;SOR=1.211	GT:AD:DP:GQ:PL	0/1:27,24:51:99:647,0,752	18	0	1	0
chr18	62830160	62830160	T	C	exonic	PHLPP1	.	nonsynonymous SNV	PHLPP1:NM_194449:exon2:c.T1702C:p.C568R	.	430	1091	1	0	0	1	0.000458085	.	.	.	3893794	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.521	0.117213371141	0.0034	0.000998403	0.0040	0.0012	0.0036	0	0.0050	0.0058	0.0020	0.0012	0.0024838	384	154602	rs142894376	0.0037	0.0037	0.0037	0.0037	0.0044	0.0036	0.0036	0.0043	0.0043	0.0005	0.0013	7.754e-05	2.547e-05	0.0025	0.0003	0.0044	0.0026	0.0008	0.0023	0.0023	0.0024	0.0022	0.0038	0.0021	0.0020	0.0034	0.0032	0.0009	0	0.0011	0.0003	0	0.0031	0	0.0038	0.0024	0.0006	0.017	0.51248	D	0.001	0.83351	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	1	0.81001	D	1.845	0.48678	L	2.66	0.12575	T	-4.83	0.80943	D	0.944	0.95139	-1.0325	0.19650	T	0.133	0.44544	T	9	0.06306407	0.08158	T	0.117213	0.79693	D	0.521	0.79643	.	.	0.628969935278	0.62594	0.8243624637625556	0.82394	1.11711265099	0.78202	0.882050395012	0.94235	D	0.557102	0.85108	D	-0.118082	0.33439	T	0.0575994	0.74085	D	0.016378750721243	0.00406	T	0.941806	0.78262	D	0.771809	0.82157	0.69103456	0.81819	0.771809	0.82158	0.69103456	0.81820	-14.268	0.93895	D	.	.	0.96	0.88058	P	.	.	4.902668	0.80590	27.4	0.99705050766849135	0.80936	0.98040	0.79094	D	AEFDGBIJ	0.942331	0.94675	D	0.556690336167792	0.70489	5.509201	0.573448296245036	0.73041	5.906237	0.999999999998039	0.74766	0.634777	0.41761	0	0.633656	0.55848	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	5.08	5.08	0.68373	8.017000	0.88732	6.191000	0.54767	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.004	0.71156	976	0.04745	Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1115.33	42	chr18	62830160	.	T	C	1115.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.195;DP=761;ExcessHet=0;FS=2.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=-1.169;QD=8.92;ReadPosRankSum=-1.476;SOR=0.483	GT:AD:DP:GQ:PL	0/1:73,52:125:99:1129,0,1852	18	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	3265.29	67	chr18	65824683	.	C	G	3265.29	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.376;DP=1741;ExcessHet=38.2876;FS=194.625;InbreedingCoeff=-0.8995;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=1.26;SOR=12.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,33:83:99:.:.:332,0,958:.	1	0	18	0
chr18	78994444	78994444	C	T	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.C2453T:p.P818L	.	313	1208	1	0	0	1	0.000413736	.	.	.	3906477	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.014712035411	0.0015	0.000199681	0.0012	0.0005	0.0011	0	0.0006	0.0018	0	0.0004	0.0009702	150	154602	rs78322910	0.0013	0.0013	0.0014	0.0013	0.0021	0.0013	0.0013	0.0015	0.0015	0.0002	0.0009	3.829e-05	0	0.0005	0.0021	0.0015	0.0010	0.0007	0.0009	0.0009	0.0010	0.0008	0.0016	0.0008	0.0007	0.0013	0.0013	0.0005	0	0.0004	0	0	9.409e-05	0	0.0016	0.0019	0	0.12	0.27904	T	0.22	0.32568	T	0.004	0.12183	B	0.002	0.06944	B	0.227656	0.15992	N	0.549098	0.950205	0.37685	D	1.4	0.35362	L	3.28	0.08986	T	-1.93	0.44852	N	0.143	0.14338	-0.9974	0.30646	T	0.023	0.09650	T	10	0.009523302	0.00215	T	0.014712	0.35003	T	0.072	0.21020	.	.	0.477838726898	0.47414	0.304847751161153	0.30397	0.403060197959	0.41255	0.284776926041	0.08167	T	0.058063	0.54783	T	-0.594895	0.00157	T	-0.640532	0.09630	T	0.0366661660373211	0.03096	T	0.724128	0.33779	T	0.03326326	0.03511	0.038691018	0.03792	0.03326326	0.03511	0.038691018	0.03792	-4.52	0.35077	T	.	.	0.081	0.08033	B	.;.;.;.	.;.;.;.	1.653412	0.21093	15.05	0.78542537376770682	0.12346	0.45230	0.27492	N	AEFDBI	0.253511	0.37299	N	-0.547235914034566	0.20570	1.085367	-0.528870817543582	0.21370	1.155744	0.999999979983441	0.74766	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	5.08	5.08	0.68373	2.671000	0.46507	2.119000	0.30708	-0.194000	0.09177	0.031000	0.20493	0.008000	0.19753	0.000000	0.00833	0.0:1.0:0.0:0.0	18.506	0.90846	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001518	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.05263	4325.83	180	chr18	78994444	.	C	T	4325.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.55;DP=2362;ExcessHet=0.119;FS=0.851;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.309;SOR=0.638	GT:AD:DP:GQ:PL	0/1:80,89:169:99:2524,0,1721	17	0	2	0
chr18	79373903	79373903	A	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.A3076G:p.I1026V,ATP9B:NM_198531:exon28:c.A3076G:p.I1026V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0104317513341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0003	0	0.0001	2.767e-05	4.173e-05	0.0005	0.0005	0.0003	0.0001	0	6.588e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.08700	B	0.000007	0.62929	N	0.106321	0.999956	0.52396	D	.	.	.	-0.34	0.68474	T	0.49	0.02993	N	0.356	0.39760	-1.0003	0.29831	T	0.106	0.38685	T	10	0.17882419	0.32987	T	0.010432	0.26958	T	0.125	0.34456	0.516	0.61611	0.557831953242	0.55443	0.32797818657124184	0.32710	0.19016546305	0.21331	0.641342043877	0.58755	T	0.051017	0.28760	T	-0.0924065	0.37678	T	-0.370512	0.36829	T	0.962732970714569	0.66454	D	0.929107	0.73907	D	0.025876695	0.01576	0.035724007	0.02878	0.025876695	0.01576	0.035724007	0.02878	-4.704	0.33453	T	.	.	0.076	0.05756	B	.;.	.;.	1.506156	0.19358	14.22	0.4022302230854744	0.02825	0.97863	0.77695	D	AEFBI	0.690181	0.65060	D	-0.529217151314464	0.21140	1.119708	-0.32364514690563	0.27337	1.516199	0.922846515319302	0.26722	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.71	0.41733	5.906000	0.69639	0.174000	0.15553	0.756000	0.94297	1.000000	0.71638	0.001000	0.17328	0.726000	0.34967	0.9163:0.0:0.0837:0.0	10.024	0.41234	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1259.6	82	chr18	79373903	.	A	G	1259.6	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-0.81;DP=861;ExcessHet=1.3;FS=155.795;InbreedingCoeff=-0.2258;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=5.43;ReadPosRankSum=1.49;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,19:45:99:0|1:79373902_C_T:497,0,971:79373902	10	0	5	4
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M,ATP9B:NM_198531:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	2268.28	81	chr18	79373905	.	C	G	2268.28	.	AC=9;AF=0.375;AN=24;BaseQRankSum=1.62;DP=784;ExcessHet=7.4688;FS=157.665;InbreedingCoeff=-0.3998;MLEAC=12;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=1.57;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,19:45:99:0|1:79373902_C_T:497,0,971:79373902	3	0	9	7
chr18	79373906	79373906	C	T	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079T:p.L1027F,ATP9B:NM_198531:exon28:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0284690929236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.554	0.41464	P	0.197	0.43233	B	0.000044	0.53742	D	0.072519	0.999999	0.58761	D	.	.	.	-1.06	0.76819	T	-2.04	0.46842	N	0.573	0.62950	-0.9349	0.43409	T	0.119	0.41648	T	10	0.361637	0.52779	T	0.028469	0.51139	D	0.365	0.68495	0.508	0.60386	0.815369968599	0.81363	0.8176144227679487	0.81718	0.338732872668	0.35836	0.746733427048	0.73965	T	0.144628	0.48135	T	0.0232865	0.54826	T	-0.204327	0.54237	T	0.985363662242889	0.76380	D	0.961204	0.85427	D	0.28799716	0.51806	0.31295186	0.57294	0.28799716	0.51806	0.31295186	0.57294	-11.447	0.83762	D	.	.	0.676	0.71986	P	.;.	.;.	3.098208	0.41745	21.4	0.99739806707809964	0.83409	0.69529	0.34224	D	AEFBI	0.189841	0.31708	N	-0.293001453477025	0.29417	1.631174	-0.168557634840095	0.32700	1.863048	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	2143.27	69	chr18	79373906	.	C	T	2143.27	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-0.593;DP=800;ExcessHet=7.4688;FS=314.938;InbreedingCoeff=-0.3139;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=1.57;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,18:44:99:0|1:79373902_C_T:481,0,974:79373902	11	0	3	5
chr19	821549	821549	G	C	exonic	PLPPR3	.	nonsynonymous SNV	PLPPR3:NM_001270366:exon2:c.C11G:p.T4S,PLPPR3:NM_024888:exon2:c.C11G:p.T4S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0913580702069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.436e-07	2.736e-06	0	1.512e-06	1.347e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.347e-05	6.576e-06	6.567e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.159	0.23813	T	0.477	0.12491	T	0.001	0.07471	B	0.004	0.10090	B	0.746247	0.06457	N	1.150040	1	0.08975	N	.	.	.	1.23	0.36872	T	0.17	0.05125	N	0.036	0.02179	-1.0303	0.20357	T	0.035	0.15160	T	10	0.08706701	0.14862	T	0.091358	0.75691	D	0.118	0.32913	0.106	0.01810	0.222439326576	0.21863	0.4493458937653377	0.44852	0.358995011599	0.37601	0.551267027855	0.46036	T	0.007153	0.06566	T	-0.321263	0.06795	T	-0.699249	0.05867	T	0.327110379934311	0.26108	T	0.539146	0.18203	T	0.04519919	0.07359	0.053720735	0.09104	0.04519919	0.07358	0.053720735	0.09103	-2.862	0.08769	T	.	.	0.075	0.05404	B	.;.;.	.;.;.	1.455657	0.18774	13.92	0.81278318105880198	0.13606	0.51232	0.28848	D	AEFDBHCI	0.258539	0.37706	N	-0.818197873455922	0.12846	0.6288243	-0.743539159423442	0.15881	0.8374469	0.999999979146973	0.74766	0.766844	0.99359	0	0.514364	0.08380	0	0.851219	0.99655	0	0.699875	0.68795	0	.	.	3.65	-0.0531	0.13150	1.874000	0.39205	3.783000	0.39798	0.434000	0.20985	0.517000	0.27088	1.000000	0.68203	0.632000	0.32210	0.1077:0.1711:0.3716:0.3496	1.977	0.03210	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1291.33	33	chr19	821549	.	G	C	1291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.789;DP=747;ExcessHet=0;FS=1.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-1.573;SOR=0.868	GT:AD:DP:GQ:PL	0/1:49,58:107:99:1305,0,1098	18	0	1	0
chr19	1467216	1467224	CGGGGGCGC	-	exonic	APC2	.	nonframeshift deletion	APC2:NM_001351273:exon14:c.3912_3920del:p.G1309_G1311del,APC2:NM_005883:exon15:c.3915_3923del:p.G1310_G1312del	.	.	.	.	.	.	.	.	.	.	.	2098582	not_provided|APC2-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0002	0.0001	0.0017	0	0.0006	0	0	0.0003234	50	154602	rs780779777	0.0008	0.0007	0.0008	0.0008	0.0008	0.0007	0.0007	0.0008	0.0008	0.0007	0.0005	0.0009	0.0007	0.0002	0.0008	0.0008	0.0009	0.0002	0.0005	0.0005	0.0006	0.0004	0.0008	0.0004	0.0004	0.0005	0.0005	0.0004	0	0.0004	0.0006	0.0008	9.441e-05	0	0.0007	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1070.29	33	chr19	1467215	.	GCGGGGGCGC	G	1070.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.398;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=0.984;SOR=0.844	GT:AD:DP:GQ:PL	0/1:18,28:46:99:1084,0,668	18	0	1	0
chr19	2433930	2433930	C	T	exonic	LMNB2	.	nonsynonymous SNV	LMNB2:NM_032737:exon8:c.G1378A:p.G460S	.	399	1121	2	0	0	2	0.000891266	.	.	.	647875	Lipodystrophy,_partial,_acquired,_susceptibility_to|Progressive_myoclonic_epilepsy_type_9	MONDO:MONDO:0100476,MedGen:C3887501,OMIM:608709|MONDO:MONDO:0014685,MedGen:C4225289,OMIM:616540,Orphanet:457265	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.044	0.00783423175242	.	0.000399361	0.0001	0.0001	0.0002	0	0.0002	6.198e-05	0	0.0005	0.0001164	18	154602	rs566078588	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0003	0.0003	5.977e-05	8.949e-05	0	0	1.922e-05	0.0007	0.0001	0.0002	0.0004	0.0001	0.0001	0.0001	9.396e-05	0.0004	6.505e-05	5.317e-05	7.282e-05	5.087e-05	2.405e-05	0	0	0	0.0004	0.0002	0	0.0001	0	0.0004	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.009816	0.30192	N	0.340766	1	0.08975	N	.	.	.	-1.66	0.82715	D	.	.	.	0.063	0.03502	-1.0171	0.24657	T	0.035	0.15291	T	8	0.019604355	0.00440	T	0.007834	0.20773	T	0.044	0.11924	.	.	0.29966067498	0.29572	0.27699471850532054	0.27612	0.247410418355	0.27288	0.358693867922	0.19194	T	0.216176	0.57826	T	-0.360563	0.04098	T	-0.463552	0.26214	T	0.0102055727072012	0.00138	T	0.453855	0.12912	T	0.02800686	0.02073	0.0317795	0.01816	0.02800686	0.02073	0.0317795	0.01816	-2.728	0.07541	T	0.04831724884680837	0.00743	0.065	0.01834	B	.	.	-0.881454	0.00957	0.037	0.54909378799829256	0.05233	0.00566	0.02572	N	AEFDBI	0.044102	0.07055	N	-1.36457700966675	0.02976	0.1322579	-1.38300412860911	0.03432	0.1601164	6.40348792584712E-5	0.04366	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.05	-0.577	0.11139	0.372000	0.20199	-4.614000	0.02068	-1.018000	0.01743	0.003000	0.16062	0.000000	0.08366	0.024000	0.12247	0.0:0.3517:0.0:0.6483	8.102	0.30022	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001008	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1643.33	38	chr19	2433930	.	C	T	1643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.48;DP=824;ExcessHet=0;FS=2.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=0;SOR=0.964	GT:AD:DP:GQ:PL	0/1:47,59:106:99:1657,0,1054	18	0	1	0
chr19	2939269	2939291	CACCACCCTTACCCAAGGAGGCA	0	exonic	ZNF77	.	.	.	.	542	911	21	2	46	71	0.0135355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3093.58	35	chr19	2939269	.	CACCACCCTTACCCAAGGAGGCA	*	3093.58	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.716;DP=2580;ExcessHet=0.7564;FS=1.172;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=57.96;MQRankSum=1.95;QD=3.56;ReadPosRankSum=0.409;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:123,63:186:99:.:.:1347,0,4034:.	16	0	3	0
chr19	3633475	3633475	C	T	exonic	PIP5K1C	.	nonsynonymous SNV	PIP5K1C:NM_012398:exon17:c.G1966A:p.A656T	Lethal congenital contractural syndrome 3, Autosomal recessive	2	1435	81	4	0	89	0.0300777	.	.	.	728142	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.044	.	0.0094	0.00678914	0.0090	0.0071	0.0047	0.0003	0.0011	0.0105	0.0115	0.0190	0.0072767	1125	154602	rs35014191	0.0089	0.0089	0.0086	0.0092	0.0245	0.0088	0.0087	0.0210	0.0197	0.0076	0.0036	0.0119	0.0001	0.0021	0.0245	0.0091	0.0097	0.0148	0.0072	0.0071	0.0077	0.0066	0.0095	0.0068	0.0067	0.0087	0.0085	0.0058	0	0.0060	0.0101	0.0002	0.0012	0.0137	0.0093	0.0109	0.0095	0.654	0.04786	T	0.289	0.21078	T	0.0	0.02946	B	0.0	0.01387	B	0.166351	0.17507	N	0.500976	0.999999	0.58761	D	0.46	0.12951	N	1.77	0.25841	T	-0.18	0.09796	N	0.221	0.24758	-0.9682	0.37571	T	0.014	0.05513	T	10	0.0037704706	0.00070	T	.	.	.	0.044	0.11924	.	.	0.2338531098	0.23012	.	.	0.312340773906	0.33537	0.507543921471	0.39879	T	0.061217	0.31596	T	-0.697437	0.00038	T	-0.762273	0.03031	T	0.0212357035127134	0.00825	T	0.524848	0.17228	T	0.02699458	0.01829	0.05359838	0.09058	0.020723399	0.00641	0.05359838	0.09057	-3.673	0.18920	T	.	.	0.065	0.01859	B	.	.	0.556133	0.09249	6.029	0.95846893947190781	0.27981	0.09924	0.15567	N	AEFDBI	0.030074	0.02958	N	-1.54024051632928	0.01592	0.0695826	-1.52061237559987	0.02186	0.1001557	0.0531868005994395	0.14930	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.39	-6.18	0.01906	-0.473000	0.06694	-0.968000	0.06755	-0.919000	0.02208	0.568000	0.27489	0.006000	0.19429	0.419000	0.27206	0.0:0.2685:0.0:0.7315	12.367	0.54565	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.027919	0.015464	0.039402	0.014793	0.050000	0.008621	0.033951	0.018939	0.1053	4201.43	34	chr19	3633475	.	C	T	4201.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.222;DP=936;ExcessHet=0.7564;FS=3.83;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.029;SOR=0.887	GT:AD:DP:GQ:PL	0/1:64,49:113:99:1228,0,1364	15	0	4	0
chr19	3770753	3770753	-	CCCGGG	exonic	RAX2	.	nonframeshift insertion	RAX2:NM_001319074:exon3:c.422_423insCCCGGG:p.G141_L142insPG,RAX2:NM_032753:exon3:c.422_423insCCCGGG:p.G141_L142insPG	Cone-rod dystrophy 11, Autosomal dominant	3	1518	1	0	0	1	0.000329272	.	.	.	16281	not_provided|Cone-rod_dystrophy_11	MedGen:C3661900|MONDO:MONDO:0012483,MedGen:C1835865,OMIM:610381,Orphanet:1872	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0026	0	0	0	.	0	0	0.0038	2.59e-05	4	154602	rs549932754	0.0003	0.0003	0.0002	0.0004	0.0043	0.0003	0.0003	0.0040	0.0038	0	2.82e-05	0	2.838e-05	0	0	9.753e-05	0.0003	0.0043	0.0001	0.0001	0.0001	0.0002	0.0035	9.737e-05	8.252e-05	0.0022	0.0018	0	0	0	0	0	0	0	5.882e-05	0.0005	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	467.29	34	chr19	3770753	.	C	CCCCGGG	467.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=734;ExcessHet=0;FS=9.422;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=0.218;SOR=2.217	GT:AD:DP:GQ:PL	0/1:48,15:63:99:481,0,1941	18	0	1	0
chr19	4511901	4511901	C	A	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.G2059T:p.D687Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0793387759283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.87e-07	4.118e-06	0	1.381e-06	2.246e-05	0	0	.	.	0	2.246e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.72224	D	0.93	0.51791	P	0.7	0.54153	P	0.040720	0.24028	U	0.287773	0.99805	0.22380	N	2.555	0.74557	M	2.76	0.11515	T	-4.12	0.75058	D	0.678	0.68516	-1.0685	0.09746	T	0.059	0.24575	T	10	0.57938814	0.65763	D	0.079339	0.73212	D	0.074	0.21613	0.403	0.43408	0.171388866994	0.16791	0.21316421107547565	0.21232	.	.	0.30364048481	0.10946	T	0.192302	0.54742	T	-0.137108	0.30351	T	-0.434722	0.29399	T	0.925390779972076	0.58709	D	0.944805	0.79065	D	0.20723423	0.42922	0.14460865	0.34325	0.20723423	0.42922	0.14460865	0.34325	-10.321	0.75811	D	.	.	0.283	0.51592	B	.;.	.;.	2.130935	0.27130	17.36	0.97716542914794469	0.35531	0.08486	0.14409	N	AEFDGBCI	0.074455	0.14923	N	-0.35584669491426	0.27059	1.481555	-0.539655508951256	0.21080	1.138735	0.00166586903151919	0.08760	0.676563	0.55306	0	0.694456	0.67091	0	0.673471	0.61138	0	0.562822	0.20929	0	.	.	5.14	3.0	0.33773	0.121000	0.15496	0.772000	0.21405	-1.022000	0.01727	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.0:0.6943:0.1443:0.1613	7.102	0.24523	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1173.33	592	chr19	4511901	.	C	A	1173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.292;DP=9370;ExcessHet=0;FS=2.93;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.36;MQRankSum=-12.61;QD=2.16;ReadPosRankSum=-1.277;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:479,65:544:99:0|1:4511901_C_A:1187,0,19203:4511901	18	0	1	0
chr19	4816838	4816838	C	T	exonic	TICAM1	.	nonsynonymous SNV	TICAM1:NM_001385679:exon2:c.G1405A:p.D469N,TICAM1:NM_182919:exon2:c.G1540A:p.D514N,TICAM1:NM_001385678:exon3:c.G1498A:p.D500N,TICAM1:NM_001385680:exon3:c.G898A:p.D300N	.	0	1521	0	1	0	2	0.00065703	.	.	.	1427072	Herpes_simplex_encephalitis,_susceptibility_to,_4	MONDO:MONDO:0013921,MedGen:C3553869,OMIM:614850,Orphanet:1930	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.041162818969	.	0.000599042	0.0002	0	0	0	0	0	0	0.0012	0.0001488	23	154602	rs543684306	6.163e-05	6.156e-05	3.271e-05	9.084e-05	0.0010	5.1e-05	4.72e-05	0.0008	0.0008	0	0	0	0	0	0.0002	0	6.624e-05	0.0010	4.597e-05	4.593e-05	6.424e-05	2.686e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.06	0.37326	T	0.14	0.33554	T	0.001	0.07471	B	0.004	0.10090	B	0.862857	0.07127	N	1.096080	0.910771	0.27511	N	1.845	0.48678	L	0.57	0.54347	T	-3.08	0.63323	D	0.39	0.43803	-0.8786	0.49872	T	0.177	0.52256	T	10	0.024168074	0.00656	T	0.041163	0.59779	D	0.103	0.29403	0.404	0.43573	0.260580752073	0.25663	.	.	0.222697933434	0.24806	0.339863836765	0.16417	T	0.599053	0.87123	D	-0.524653	0.00413	T	-0.571956	0.15271	T	0.084187401785345	0.10514	T	0.69563	0.30512	T	0.1611747	0.36108	0.112844475	0.27229	0.1611747	0.36108	0.112844475	0.27228	-4.798	0.34568	T	.	.	0.204	0.42920	B	.;.	.;.	2.848787	0.37605	20.5	0.99350871515989392	0.60574	0.73942	0.36167	D	AEFDBHCI	0.124511	0.24059	N	-0.396143605695173	0.25606	1.391247	-0.364646499968684	0.26059	1.437018	0.991807453613766	0.32614	0.67177	0.52595	0	0.702456	0.74545	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	4.59	2.43	0.28797	1.007000	0.29462	2.671000	0.33948	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.253000	0.23340	0.0:0.7484:0.0:0.2516	8.702	0.33493	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2624.33	37	chr19	4816838	.	C	T	2624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.6;DP=957;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=1.1;SOR=0.714	GT:AD:DP:GQ:PL	0/1:74,99:173:99:2638,0,2124	18	0	1	0
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3125	750.05	37	chr19	7871678	.	G	C	750.05	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.804;DP=1749;ExcessHet=6.9875;FS=186.672;InbreedingCoeff=-0.429;MLEAC=11;MLEAF=0.344;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=1.13;SOR=10.928	GT:AD:DP:GQ:PL	0/1:88,21:111:82:82,0,2003	6	0	10	3
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	8786.25	558	chr19	8888803	.	G	A	8786.25	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.756;DP=9279;ExcessHet=2.0135;FS=1.656;InbreedingCoeff=-0.2042;MLEAC=6;MLEAF=0.158;MQ=57.33;MQRankSum=-6.204;QD=3;ReadPosRankSum=1.62;SOR=0.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:446,60:506:99:.:.:281,0,16831:.	13	0	6	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	423.41	466	chr19	8888826	.	T	*	423.41	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.69;DP=7860;ExcessHet=48.2876;FS=8.285;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.63;MQRankSum=-9.46;QD=0.05;ReadPosRankSum=0.739;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:258,80:387:99:0|1:8888826_T_*:2583,0,10593:8888826	2	0	17	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3684	3536.2	316	chr19	8900017	.	C	G	3536.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.263;DP=4309;ExcessHet=17.0548;FS=3.59;InbreedingCoeff=-0.555;MLEAC=14;MLEAF=0.368;MQ=58.99;MQRankSum=-14.78;QD=0.96;ReadPosRankSum=1.67;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:247,27:274:99:0|1:8900009_C_T:390,0,10290:8900009	5	0	14	0
chr19	9854801	9854801	G	C	exonic	OLFM2	.	nonsynonymous SNV	OLFM2:NM_001304348:exon5:c.C516G:p.D172E,OLFM2:NM_001304347:exon6:c.C822G:p.D274E,OLFM2:NM_058164:exon6:c.C750G:p.D250E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.0792427157215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999582	0.47691	D	2.47	0.71715	M	-2.4	0.88455	D	-2.05	0.47008	N	0.312	0.38438	0.529	0.90956	D	0.766	0.92023	D	9	0.6964848	0.72176	D	0.079243	0.73189	D	0.597	0.84019	0.571	0.69431	0.616309752723	0.61320	.	.	1.45215106663	0.86188	0.682164549828	0.64580	T	0.374173	0.82387	T	0.00502319	0.52346	T	-0.230561	0.51717	T	0.97174608707428	0.69433	D	0.971303	0.89644	D	0.22800027	0.45511	0.21998447	0.46757	0.22800027	0.45511	0.21998447	0.46756	-8.617	0.65202	D	.	.	0.696	0.81000	P	.;.;.	.;.;.	3.698712	0.52737	23.3	0.99704958505600771	0.80936	0.86476	0.45764	D	AEFDBI	0.465642	0.51363	N	0.404831549550597	0.61688	4.373243	0.331328797368957	0.57388	3.904456	0.053917881777599	0.14954	0.650006	0.45971	0	0.550933	0.16991	0	0.606735	0.37207	0	0.567892	0.33627	0	.	.	4.45	3.42	0.38259	0.721000	0.25580	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0978:0.0:0.9022:0.0	10.135	0.41876	878	0.29785	Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	309.13	41	chr19	9854801	.	G	C	309.13	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.882;DP=1786;ExcessHet=0.7564;FS=174.643;InbreedingCoeff=-0.138;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.61;ReadPosRankSum=1.25;SOR=10.646	GT:AD:DP:GQ:PL	0/1:101,38:146:49:49,0,1803	14	0	4	1
chr19	10292659	10292659	G	T	exonic	ICAM5	.	nonsynonymous SNV	ICAM5:NM_003259:exon5:c.G1009T:p.G337W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0652331198197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.002466	0.36499	N	0.196392	0.92732	0.36861	D	2.315	0.66250	M	1.73	0.26445	T	-5.81	0.88224	D	0.681	0.68777	-0.8782	0.49903	T	0.140	0.45997	T	10	0.7765175	0.77503	D	0.065233	0.69517	D	0.247	0.55478	0.5	0.59147	0.559044820595	0.55565	0.8160147931757253	0.81557	.	.	0.515936434269	0.41054	T	0.753344	0.93258	D	0.0247624	0.55023	T	-0.202207	0.54437	T	0.99676114320755	0.90032	D	0.814719	0.46890	T	0.39001384	0.60033	0.2037721	0.44469	0.39001384	0.60034	0.2037721	0.44468	-12.6	0.87650	D	.	.	0.383	0.58593	A	.	.	5.241953	0.88003	29.4	0.99528255792890974	0.69715	0.78119	0.38495	D	AEFDGBHCI	0.466581	0.51417	N	0.619579562704904	0.74415	6.128715	0.574661938812344	0.73129	5.920148	0.999999999980658	0.74766	0.72623	0.87236	0	0.748881	0.99253	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	5.67	4.64	0.57399	2.098000	0.41383	11.769000	0.95814	0.571000	0.28931	1.000000	0.71638	1.000000	0.68203	0.482000	0.28611	0.0932:0.0:0.9068:0.0	9.556	0.38506	604	0.67577	Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1486.33	34	chr19	10292659	.	G	T	1486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.606;DP=811;ExcessHet=0;FS=0.696;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.723;SOR=0.604	GT:AD:DP:GQ:PL	0/1:61,60:121:99:1500,0,1556	18	0	1	0
chr19	10378250	10378250	C	T	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385197:exon3:c.G157A:p.A53T,TYK2:NM_001385198:exon3:c.G157A:p.A53T,TYK2:NM_001385199:exon3:c.G157A:p.A53T,TYK2:NM_001385200:exon3:c.G157A:p.A53T,TYK2:NM_001385201:exon3:c.G157A:p.A53T,TYK2:NM_001385202:exon3:c.G157A:p.A53T,TYK2:NM_001385203:exon3:c.G157A:p.A53T,TYK2:NM_001385204:exon3:c.G157A:p.A53T,TYK2:NM_001385205:exon3:c.G157A:p.A53T,TYK2:NM_001385206:exon3:c.G157A:p.A53T,TYK2:NM_001385207:exon3:c.G157A:p.A53T,TYK2:NM_003331:exon3:c.G157A:p.A53T	Immunodeficiency 35, Autosomal recessive	0	1498	23	1	0	25	0.00827541	.	.	.	377042	not_specified|Immunodeficiency_35|not_provided	MedGen:CN169374|MONDO:MONDO:0012682,MedGen:C1969086,OMIM:611521,Orphanet:331226|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.458	.	0.0084	0.00379393	0.0080	0.0023	0.0038	0.0002	0.0050	0.0108	0.0113	0.0085	0.0078848	1219	154602	rs55762744	0.0095	0.0095	0.0095	0.0095	0.0108	0.0094	0.0093	0.0106	0.0106	0.0012	0.0037	0.0052	2.519e-05	0.0054	0.0106	0.0108	0.0075	0.0086	0.0072	0.0072	0.0073	0.0072	0.0116	0.0069	0.0067	0.0109	0.0106	0.0018	0	0.0063	0.0058	0.0002	0.0052	0.0408	0.0116	0.0080	0.0083	0.033	0.91255	D	0.004	0.74150	D	0.997	0.90584	D	0.922	0.97372	D	0.000206	0.47681	D	0.000000	0.994144	0.81001	D	2.87	0.83286	M	-0.89	0.74793	T	-3.24	0.67824	D	0.631	0.68950	0.014	0.82533	D	0.449	0.78396	T	10	0.0094073415	0.00212	T	.	.	.	0.458	0.75619	.	.	0.832408338325	0.83081	0.8213217367268504	0.82089	0.924448990043	0.71586	0.603025615215	0.53331	T	0.33245	0.70241	T	-0.262517	0.12608	T	-0.140469	0.60077	T	0.0123459108572886	0.00201	T	0.875712	0.60074	D	0.4009338	0.60797	0.26869807	0.52742	0.29724216	0.52656	0.28160226	0.54142	-7.226	0.55668	T	.	.	0.158	0.48008	B	.;.;.;.;.	.;.;.;.;.	4.159109	0.62453	24.5	0.99820100130271594	0.90326	0.93084	0.57286	D	AEFDBHI	0.402883	0.47679	N	0.344370839548131	0.58443	4.016571	0.20844889128397	0.50315	3.224917	0.999479541824851	0.39898	0.706298	0.61202	0	0.672317	0.65289	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	4.499000	0.60101	7.532000	0.59933	0.563000	0.28513	0.994000	0.38300	1.000000	0.68203	0.085000	0.17524	0.0:1.0:0.0:0.0	13.480	0.60782	809	0.43032	FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain;FERM domain;.	KANK2	Heart_Atrial_Appendage	TYK2|TYK2|TYK2|TYK2|TYK2	Adipose_Subcutaneous|Artery_Aorta|Lung|Skin_Sun_Exposed_Lower_leg|Spleen	rs55762744	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.012121	0.000000	0.010870	0.008772	0.000000	0.025862	0.018519	0.015267	0.05263	4448.83	33	chr19	10378250	.	C	T	4448.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.96;DP=896;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.385;SOR=0.686	GT:AD:DP:GQ:PL	0/1:63,89:152:99:2332,0,1631	17	0	2	0
chr19	11806681	11806681	A	G	exonic	ZNF491	.	nonsynonymous SNV	ZNF491:NM_152356:exon3:c.A728G:p.Y243C	.	392	1114	16	0	0	16	0.00713012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00100771457749	7.7e-05	0.000199681	0.0007	0	0.0005	0	0	0.0005	0	0.0029	0.0005821	90	154602	rs200242552	0.0004	0.0004	0.0003	0.0005	0.0031	0.0004	0.0004	0.0028	0.0027	8.982e-05	0.0005	0.0053	2.519e-05	0	0.0026	0.0001	0.0008	0.0031	0.0003	0.0003	0.0003	0.0004	0.0027	0.0003	0.0002	0.0016	0.0013	4.813e-05	0	0	0.0058	0	0	0	0.0002	0.0005	0.0027	0.009	0.57480	D	0.006	0.70582	D	1.0	0.90584	D	0.995	0.83170	D	.	.	.	.	0.997545	0.22615	N	2.605	0.76211	M	1.8	0.25344	T	-8.44	0.97202	D	0.155	0.16028	-1.0142	0.25593	T	0.152	0.48101	T	9	0.008301079	0.00188	T	0.001008	0.01096	T	0.026	0.05648	.	.	0.347659731818	0.34379	0.042998980970991786	0.04244	0.191481901938	0.21479	0.318927526474	0.13258	T	0.090194	0.38534	T	-0.577247	0.00200	T	-0.606255	0.12291	T	0.229590460289067	0.21932	T	0.381762	0.09261	T	0.291563	0.52137	0.31521928	0.57510	0.291563	0.52137	0.31521928	0.57509	-6.769	0.52328	T	.	.	0.191	0.41047	B	.	.	2.885266	0.38196	20.7	0.98191298430309903	0.39036	0.00037	0.00318	N	AEFBCI	0.078806	0.15908	N	-0.133085953128206	0.35957	2.072055	-0.471771598224652	0.22935	1.248234	1.52825909242054E-5	0.02871	0.553676	0.25195	0	0.588066	0.40923	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.981	0.981	0.18875	-0.249000	0.08861	.	.	0.556000	0.28261	0.000000	0.06391	0.000000	0.08366	0.045000	0.14751	0.6995:0.0:0.0:0.3005	4.287	0.10304	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	1416.33	34	chr19	11806681	.	A	G	1416.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.369;DP=754;ExcessHet=0;FS=9.776;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=0.249;SOR=0.848	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1430,0,1337	18	0	1	0
chr19	11831991	11831991	G	A	exonic	ZNF440	.	nonsynonymous SNV	ZNF440:NM_152357:exon4:c.G815A:p.R272H	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.000808918510534	0.0002	0.00139776	0.0006	0.0003	0.0003	0	0	0.0002	0	0.0034	0.0005886	91	154602	rs199832413	0.0003	0.0003	0.0003	0.0004	0.0027	0.0003	0.0003	0.0025	0.0023	0.0002	0.0002	0	0	5.617e-05	0.0005	0.0002	0.0004	0.0027	0.0003	0.0004	0.0003	0.0004	0.0040	0.0003	0.0002	0.0026	0.0022	0.0002	0	0.0002	0	0	9.425e-05	0	0.0003	0	0.0040	0.138	0.25873	T	0.198	0.27767	T	0.102	0.25827	B	0.031	0.21939	B	.	.	.	.	1	0.08975	N	1.655	0.42436	L	1.95	0.22474	T	-2.54	0.55025	D	0.121	0.11197	-0.9615	0.38897	T	0.030	0.13023	T	9	0.004054308	0.00079	T	8.09E-4	0.00649	T	0.008	0.00669	.	.	0.221734844693	0.21761	0.02193880025590989	0.02145	0.048095875707	0.05251	0.202302068472	0.00526	T	0.006844	0.06266	T	-0.638877	0.00085	T	-0.694782	0.06116	T	0.00880367855476009	0.00109	T	0.140186	0.01129	T	0.032722678	0.03351	0.042088132	0.04932	0.032722678	0.03351	0.042088132	0.04931	-5.352	0.40455	T	.	.	0.110	0.21163	B	.	.	0.683452	0.10520	7.232	0.54251399655805133	0.05100	0.00000	0.00017	N	AEFBCI	.	.	.	-1.31471063042264	0.03506	0.1567288	-1.4694902296257	0.02598	0.1197682	8.7166010352446E-4	0.07946	0.562547	0.31514	0	0.653731	0.59785	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	1.0	-1.93	0.07180	-2.182000	0.01341	.	.	0.244000	0.18284	0.000000	0.06391	0.000000	0.08366	0.562000	0.30459	0.3504:0.0:0.2282:0.4214	2.245	0.03783	934	0.15400	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	0.001060	0.000000	0.000000	0.008197	0.000000	0.000000	0.003067	0.000000	0.02632	4023.33	33	chr19	11831991	.	G	A	4023.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.76;DP=1825;ExcessHet=0;FS=0.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.059;SOR=0.626	GT:AD:DP:GQ:PL	0/1:169,148:317:99:4037,0,4100	18	0	1	0
chr19	12696212	12696212	C	T	exonic	FBXW9	.	nonsynonymous SNV	FBXW9:NM_032301:exon1:c.G370A:p.A124T	.	410	1110	2	0	0	2	0.00090009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0257534856851	.	0.000798722	0.0031	0	0	0	0	0.0002	0	0.0052	0.0004528	70	154602	rs568421602	0.0004	0.0004	0.0002	0.0005	0.0058	0.0003	0.0003	0.0053	0.0051	3.156e-05	0	0	0	0	0.0011	3.698e-06	0.0006	0.0058	0.0002	0.0002	7.708e-05	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	2.405e-05	0	0	0	0	0	0	0	0	0.0060	0.232	0.18184	T	0.352	0.17372	T	0.991	0.64070	D	0.615	0.51231	P	0.004650	0.33526	N	0.280832	0.835825	0.81001	D	.	.	.	0.59	0.53943	T	0.12	0.05604	N	0.198	0.21839	-1.0421	0.16681	T	0.113	0.40377	T	10	0.007188767	0.00163	T	0.025753	0.48703	D	0.059	0.16972	0.435	0.48664	0.559387959211	0.55600	0.21919611696488714	0.21835	0.547081755179	0.51680	0.685147762299	0.65008	T	.	.	.	-0.467192	0.00885	T	-0.442084	0.28576	T	0.117021956520718	0.14135	T	0.661834	0.27067	T	.	.	.	.	.	.	.	.	-4.528	0.31253	T	.	.	0.229	0.46121	B	.;.	.;.	3.901955	0.56841	23.8	0.99734393145824596	0.83047	0.60062	0.31089	D	AEFDGBHCI	0.216770	0.34197	N	-0.239726850713958	0.31516	1.767911	-0.10496301938373	0.35189	2.032956	0.999999999997653	0.74766	0.242642	0.04205	2	0.218748	0.04544	0	0.391439	0.06340	0	0.581474	0.35302	0	.	.	5.24	4.21	0.48984	1.824000	0.38710	.	.	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:0.7749:0.1444:0.0807	9.400	0.37589	716	0.55970	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001586	0.000000	0.001381	0.000000	0.000000	0.000000	0.000000	0.007874	0.02632	718.33	35	chr19	12696212	.	C	T	718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.504;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.144;SOR=0.648	GT:AD:DP:GQ:PL	0/1:25,30:55:99:732,0,638	18	0	1	0
chr19	14073357	14073357	G	T	exonic	MISP3	.	nonsynonymous SNV	MISP3:NM_001291291:exon1:c.G48T:p.E16D	.	427	1078	14	3	0	20	0.00919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	0.804382951025	.	0.000399361	0.0026	0	0	0	0	0.0051	0	0.0019	0.0012484	193	154602	rs558846444	0.0051	0.0045	0.0052	0.0050	0.0093	0.0049	0.0049	0.0069	0.0065	0.0018	0.0043	0.0025	0	0.0011	0.0093	0.0069	0.0052	0.0026	0.0044	0.0044	0.0050	0.0038	0.0071	0.0042	0.0040	0.0066	0.0064	0.0017	0.0011	0.0041	0.0023	0	0.0014	0.0136	0.0071	0.0052	0.0039	0.0	0.91255	D	0.144	0.92824	T	.	.	.	.	.	.	0.649054	0.10530	U	0.736631	.	.	.	.	.	.	-0.91	0.75001	T	-2.57	0.55501	D	0.445	0.48319	-0.2100	0.77414	T	0.509	0.81556	D	8	0.008499801	0.00193	T	0.804383	0.98471	D	0.392	0.70764	.	.	0.365317461125	0.36143	0.6604901006505629	0.65986	.	.	.	.	.	0.295896	0.66854	T	-0.277234	0.10964	T	-0.166438	0.57769	T	0.0397339557638784	0.03642	T	0.741926	0.36121	T	0.05096804	0.09291	0.06848929	0.14310	0.05096804	0.09291	0.06848929	0.14310	-7.945	0.60694	D	.	.	0.981	0.91241	P	.;.	.;.	3.482376	0.48638	22.6	0.99706050886198216	0.81005	0.15976	0.19172	N	ALL	0.108891	0.21647	N	0.0636980476317612	0.44775	2.745442	-0.0279558745844798	0.38458	2.266035	0.9999999919658	0.74766	0.623204	0.39778	0	0.552344	0.17405	0	0.378051	0.06126	2	0.603991	0.37454	0	.	.	3.64	1.31	0.20837	1.876000	0.39224	.	.	-0.253000	0.07101	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.2856:0.0:0.7144:0.0	5.639	0.16831	799	0.44747	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	796.33	34	chr19	14073357	.	G	T	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.404;DP=704;ExcessHet=0;FS=3.193;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.76;SOR=0.395	GT:AD:DP:GQ:PL	0/1:37,34:71:99:810,0,879	18	0	1	0
chr19	15475582	15475582	T	G	exonic	PGLYRP2	.	nonsynonymous SNV	PGLYRP2:NM_001363546:exon2:c.A1088C:p.Q363P,PGLYRP2:NM_052890:exon2:c.A1088C:p.Q363P	.	422	1096	4	0	0	4	0.00182149	.	.	.	4044389	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.00755616392266	0.0007	0.000798722	0.0010	0.0006	0.0026	0	0.0003	0.0011	0.0011	0.0005	0.0008797	136	154602	rs150754767	0.0008	0.0008	0.0008	0.0008	0.0016	0.0008	0.0007	0.0013	0.0012	0.0005	0.0016	0	0	9.368e-05	0.0007	0.0009	0.0008	0.0007	0.0007	0.0007	0.0008	0.0006	0.0009	0.0006	0.0005	0.0007	0.0007	0.0006	0	0.0008	0	0	0.0002	0.0034	0.0009	0.0005	0.0006	0.017	0.51248	D	0.219	0.25987	T	0.884	0.48618	P	0.245	0.38823	B	0.873048	0.07188	N	1.060720	1	0.08975	N	2.48	0.72069	M	3.55	0.04746	T	-2.58	0.55662	D	0.441	0.47949	-0.9591	0.39349	T	0.015	0.06042	T	10	0.011097997	0.00244	T	0.007556	0.20060	T	0.087	0.25287	.	.	0.324436698001	0.32047	0.8313444470906253	0.83093	0.490247172869	0.47758	0.277894467115	0.07200	T	0.108827	0.42218	T	-0.477844	0.00761	T	-0.47818	0.24641	T	0.0292298667323319	0.01873	T	0.660234	0.26930	T	0.5076315	0.67541	0.375608	0.62701	0.5076315	0.67542	0.375608	0.62700	-5.202	0.38962	T	.	.	0.136	0.47437	B	.;.	.;.	1.325118	0.17300	13.08	0.78519013042429375	0.12335	0.04750	0.10454	N	AEFGBI	0.348227	0.44242	N	-0.623964277953554	0.18226	0.944563	-0.703472448016723	0.16874	0.8946968	8.6006821783987E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.46	2.22	0.27116	0.092000	0.14905	.	.	-0.146000	0.12295	0.000000	0.06391	0.143000	0.23109	0.372000	0.26156	0.1553:0.1714:0.0:0.6732	3.856	0.08483	553	0.71930	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1075.33	33	chr19	15475582	.	T	G	1075.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.936;DP=710;ExcessHet=0;FS=0.829;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-1.194;SOR=0.858	GT:AD:DP:GQ:PL	0/1:37,47:84:99:1089,0,964	18	0	1	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1637.94	40	chr19	17286690	.	GTT	*	1637.94	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.46;DP=1151;ExcessHet=0.463;FS=1.245;InbreedingCoeff=0.1559;MLEAC=14;MLEAF=0.368;MQ=59.99;MQRankSum=0;QD=3.04;ReadPosRankSum=1.16;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:7,23:46:99:.:.:1289,211,341:.	7	2	10	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	2986.13	40	chr19	17286692	.	T	*	2986.13	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0;DP=1155;ExcessHet=0.5777;FS=0;InbreedingCoeff=0.0134;MLEAC=21;MLEAF=0.583;MQ=59.97;MQRankSum=0;QD=4.33;ReadPosRankSum=1.35;SOR=0.666	GT:AD:DP:GQ:PL	0/1:7,43:50:23:1947,0,23	4	6	8	1
chr19	17455716	17455716	C	A	exonic	NXNL1	.	nonsynonymous SNV	NXNL1:NM_138454:exon2:c.G570T:p.K190N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.204874341752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.231e-07	1.368e-06	1.427e-06	0	3.176e-05	0	0	.	.	3.176e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.24468	T	0.103	0.38305	T	0.089	0.25085	B	0.016	0.17743	B	0.693354	0.06159	U	1.186040	1	0.08975	N	0.975	0.24501	L	-1.91	0.84701	D	-0.76	0.21215	N	0.091	0.06990	-0.8517	0.51850	T	0.316	0.68531	T	10	0.07042161	0.10242	T	0.204874	0.86954	D	0.130	0.35528	0.266	0.21261	0.365120060079	0.36123	0.3588163939097545	0.35795	0.445951067236	0.44474	0.804705023766	0.82680	D	0.127462	0.45450	T	-0.161522	0.26526	T	-0.469792	0.25539	T	0.0539163511100353	0.06174	T	0.446455	0.12522	T	0.0744025	0.16693	0.07684188	0.17059	0.0744025	0.16693	0.07684188	0.17059	-4.344	0.28789	T	.	.	0.216	0.44501	B	.	.	1.735825	0.22091	15.48	0.9661567112289825	0.30459	0.05784	0.11718	N	AEFDBI	0.059811	0.11324	N	-1.06099330821235	0.07373	0.342328	-1.06219075685775	0.08454	0.4157798	0.926088485394594	0.26839	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.49	-0.277	0.12260	0.469000	0.21779	-0.594000	0.08306	0.425000	0.20843	0.000000	0.06391	0.000000	0.08366	0.881000	0.42162	0.0:0.5394:0.3519:0.1087	6.422	0.20948	799	0.44747	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	588.33	36	chr19	17455716	.	C	A	588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.846;DP=588;ExcessHet=0;FS=3.089;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-0.896;SOR=1.317	GT:AD:DP:GQ:PL	0/1:17,21:38:99:602,0,401	18	0	1	0
chr19	17455721	17455721	-	CACGCGGTACTTGTGGCGGCGCAGG	exonic	NXNL1	.	frameshift insertion	NXNL1:NM_138454:exon2:c.564_565insCCTGCGCCGCCACAAGTACCGCGTG:p.E189Pfs*36	.	.	.	.	.	.	.	.	.	.	.	3209897	NXNL1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0072	0	0	0	0	0.0077	0	0.0001153	3	26028	rs771965648	0.0006	0.0005	0.0007	0.0006	0.0235	0.0006	0.0006	0.0219	0.0213	0.0235	0.0022	0	0	0	0.0006	1.14e-05	0.0015	1.524e-05	0.0053	0.0055	0.0052	0.0053	0.0181	0.0049	0.0048	0.0169	0.0164	0.0181	0	0.0026	0	0	0	0	4.858e-05	0.0046	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	863.29	36	chr19	17455721	.	C	CCACGCGGTACTTGTGGCGGCGCAGG	863.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.14;DP=602;ExcessHet=0;FS=8.302;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.98;ReadPosRankSum=-1.526;SOR=2.303	GT:AD:DP:GQ:PL	0/1:14,22:36:99:877,0,504	18	0	1	0
chr19	17775075	17775075	T	A	exonic	FCHO1	.	nonsynonymous SNV	FCHO1:NM_001384385:exon11:c.T790A:p.S264T,FCHO1:NM_001161359:exon12:c.T790A:p.S264T,FCHO1:NM_001384384:exon12:c.T790A:p.S264T,FCHO1:NM_001384406:exon12:c.T790A:p.S264T,FCHO1:NM_001384407:exon12:c.T790A:p.S264T,FCHO1:NM_001161358:exon13:c.T940A:p.S314T,FCHO1:NM_001384381:exon13:c.T940A:p.S314T,FCHO1:NM_001384390:exon13:c.T865A:p.S289T,FCHO1:NM_001384392:exon13:c.T940A:p.S314T,FCHO1:NM_001384395:exon13:c.T940A:p.S314T,FCHO1:NM_001384397:exon13:c.T940A:p.S314T,FCHO1:NM_001384402:exon13:c.T940A:p.S314T,FCHO1:NM_001384403:exon13:c.T895A:p.S299T,FCHO1:NM_001161357:exon14:c.T940A:p.S314T,FCHO1:NM_001384370:exon14:c.T940A:p.S314T,FCHO1:NM_001384371:exon14:c.T940A:p.S314T,FCHO1:NM_001384372:exon14:c.T940A:p.S314T,FCHO1:NM_001384373:exon14:c.T940A:p.S314T,FCHO1:NM_001384374:exon14:c.T940A:p.S314T,FCHO1:NM_001384375:exon14:c.T940A:p.S314T,FCHO1:NM_001384376:exon14:c.T940A:p.S314T,FCHO1:NM_001384377:exon14:c.T940A:p.S314T,FCHO1:NM_001384378:exon14:c.T940A:p.S314T,FCHO1:NM_001384379:exon14:c.T940A:p.S314T,FCHO1:NM_001384380:exon14:c.T940A:p.S314T,FCHO1:NM_001384386:exon14:c.T790A:p.S264T,FCHO1:NM_001384387:exon14:c.T940A:p.S314T,FCHO1:NM_001384388:exon14:c.T901A:p.S301T,FCHO1:NM_001384389:exon14:c.T901A:p.S301T,FCHO1:NM_001384391:exon14:c.T940A:p.S314T,FCHO1:NM_001384393:exon14:c.T940A:p.S314T,FCHO1:NM_001384394:exon14:c.T940A:p.S314T,FCHO1:NM_001384396:exon14:c.T940A:p.S314T,FCHO1:NM_001384398:exon14:c.T940A:p.S314T,FCHO1:NM_001384399:exon14:c.T940A:p.S314T,FCHO1:NM_001384400:exon14:c.T940A:p.S314T,FCHO1:NM_001384401:exon14:c.T940A:p.S314T,FCHO1:NM_001384404:exon14:c.T940A:p.S314T,FCHO1:NM_001384405:exon14:c.T901A:p.S301T,FCHO1:NM_015122:exon14:c.T940A:p.S314T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0112025619016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.14894	T	0.143	0.34241	T	0.09	0.25173	B	0.046	0.24676	B	0.038916	0.01855	N	2.513830	0.891562	0.27872	N	1.9	0.50570	L	1.38	0.37746	T	-1.69	0.40274	N	0.183	0.19861	-1.0180	0.24366	T	0.087	0.33662	T	10	0.093999416	0.16680	T	0.011203	0.28580	T	0.041	0.10877	0.237	0.16760	0.432587166891	0.42875	0.13864922622072165	0.13787	0.546971031676	0.51673	0.464884459972	0.33979	T	0.026112	0.28145	T	-0.201036	0.20656	T	-0.526551	0.19633	T	0.119460596809071	0.14377	T	0.637336	0.25103	T	0.12257508	0.28800	0.07321641	0.15885	0.12257508	0.28800	0.07321641	0.15884	-3.939	0.22888	T	.	.	0.067	0.03698	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.109880	0.14948	11.46	0.93816487007300653	0.23794	0.57675	0.30439	D	AEFBI	0.090343	0.18306	N	-0.512215988322792	0.21683	1.152596	-0.442817471316919	0.23752	1.297008	0.987723616491871	0.31329	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.83	3.8	0.42887	0.625000	0.24171	0.787000	0.21533	0.519000	0.23678	0.115000	0.23085	0.002000	0.18203	0.352000	0.25704	0.0:0.1058:0.0:0.8942	7.003	0.23996	976	0.04745	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	893.33	34	chr19	17775075	.	T	A	893.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.964;DP=724;ExcessHet=0;FS=1.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.899;SOR=0.984	GT:AD:DP:GQ:PL	0/1:43,38:81:99:907,0,1112	18	0	1	0
chr19	17861330	17861330	C	T	exonic	RPL18A	.	nonsynonymous SNV	RPL18A:NM_000980:exon2:c.C56T:p.T19I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0215648655434	.	0.000798722	0.0003	0	0	0	0	0	0	0.0022	0.0002587	40	154602	rs532774958	0.0002	0.0002	7.898e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0	2.699e-06	0.0001	0.0025	7.88e-05	7.874e-05	3.855e-05	0.0001	0.0023	4.494e-05	3.51e-05	0.0013	0.0010	0	0	0	0	0	0	0	1.47e-05	0	0.0023	0.01	0.56456	D	0.02	0.58613	D	0.016	0.17332	B	0.068	0.27651	B	0.001151	0.40056	U	0.215843	0.999998	0.58761	D	2.385	0.68708	M	.	.	.	-4.22	0.75854	D	0.447	0.49237	-0.3622	0.73198	T	0.331	0.69893	T	9	0.016435325	0.00346	T	0.021565	0.44356	T	0.235	0.53788	0.522	0.62518	0.257342827899	0.25358	0.6684209908793612	0.66780	0.949352827283	0.72555	0.620297074318	0.55771	T	0.357559	0.72425	T	-0.342665	0.05205	T	-0.271158	0.47703	T	0.165248877729803	0.18251	T	0.816718	0.47282	T	0.42149043	0.62191	0.3668894	0.62009	0.42149043	0.62191	0.3668894	0.62009	-10.823	0.78678	D	.	.	0.888	0.81984	P	.;.	.;.	3.578019	0.50425	22.9	0.99571796671970503	0.72440	0.90971	0.52610	D	AEFGBCI	0.750641	0.69170	D	0.0339720936872923	0.43405	2.634169	0.0770405209869757	0.43396	2.642234	0.999999999999973	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	3.95	3.95	0.44952	4.790000	0.62146	4.551000	0.43803	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.872000	0.41544	0.0:1.0:0.0:0.0	13.861	0.63057	957	0.09725	Ribosomal protein 50S-L18Ae/60S-L20/60S-L18A;Ribosomal protein 50S-L18Ae/60S-L20/60S-L18A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000566	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	951.33	39	chr19	17861330	.	C	T	951.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.045;DP=719;ExcessHet=0;FS=1.92;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.29;MQRankSum=0.855;QD=12.52;ReadPosRankSum=1.69;SOR=0.443	GT:AD:DP:GQ:PL	0/1:39,37:76:99:965,0,1037	18	0	1	0
chr19	17876045	17876045	G	T	exonic	SLC5A5	.	nonsynonymous SNV	SLC5A5:NM_000453:exon5:c.G637T:p.V213L	Thyroid dyshormonogenesis 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0672406972318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.466	0.08584	T	0.523	0.10354	T	0.001	0.07471	B	0.008	0.13708	B	0.226520	0.16016	N	0.591063	1	0.08975	N	1.495	0.37439	L	-2.52	0.89363	D	-0.94	0.25118	N	0.052	0.02366	-0.6962	0.60619	T	0.410	0.75845	T	10	0.23870605	0.40996	T	0.067241	0.70110	D	0.178	0.44724	0.451	0.51285	0.248133497653	0.24425	0.6959641614887347	0.69537	0.189338636663	0.21250	0.245516121387	0.03310	T	0.030376	0.21545	T	-0.123795	0.32505	T	-0.4156	0.31581	T	0.0461046174168587	0.04802	T	0.575442	0.20674	T	0.077068485	0.17469	0.054299656	0.09312	0.077068485	0.17469	0.054299656	0.09311	-6.872	0.53092	T	0.28350446055459355	0.37918	0.098	0.16319	B	.	.	0.003303	0.04306	1.085	0.59483625212160363	0.06235	0.33705	0.24892	N	AEFGBI	0.133521	0.25321	N	-1.1225936701195	0.06243	0.2868491	-1.21568938862347	0.05657	0.270164	0.00108530013963787	0.08206	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.0	-5.14	0.02656	0.397000	0.20608	-0.237000	0.10625	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3139:0.3283:0.3578:0.0	5.970	0.18584	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2041.33	38	chr19	17876045	.	G	T	2041.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.3;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.095;SOR=0.709	GT:AD:DP:GQ:PL	0/1:88,79:167:99:2055,0,2292	18	0	1	0
chr19	18009086	18009086	G	C	exonic	ARRDC2	.	nonsynonymous SNV	ARRDC2:NM_001025604:exon3:c.G442C:p.E148Q,ARRDC2:NM_001286826:exon3:c.G457C:p.E153Q,ARRDC2:NM_015683:exon3:c.G457C:p.E153Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.0462804906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.047	0.64786	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	N	0.051030	0.999997	0.58761	D	1.815	0.47718	L	3.31	0.13673	T	-1.94	0.45587	N	0.369	0.41261	-1.1108	0.03002	T	0.083	0.32556	T	10	0.53398514	0.63343	D	0.04628	0.62381	D	0.315	0.63694	0.561	0.68093	0.623404466153	0.62034	0.5486571822981725	0.54791	1.27124136584	0.82271	0.589657723904	0.51446	T	0.002497	0.01884	T	-0.169436	0.25319	T	-0.48116	0.24324	T	0.965613186359406	0.67322	D	0.882912	0.61387	D	0.74017954	0.80302	0.487538	0.70344	0.74017954	0.80304	0.487538	0.70344	-3.629	0.18277	T	.	.	0.241	0.47503	B	.;.;.	.;.;.	4.598852	0.72823	25.9	0.99757885281269554	0.84772	0.93855	0.59386	D	AEFDBCIJ	0.910672	0.86889	D	0.350147521573648	0.58747	4.048975	0.218140071495131	0.50852	3.27318	0.999999759868119	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.536845	0.12434	2	.	.	4.44	2.16	0.26663	7.799000	0.84507	6.384000	0.55546	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.3011:0.6989:0.0	13.452	0.60626	964	0.07719	.;Arrestin-like, N-terminal;Arrestin-like, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1342.33	33	chr19	18009086	.	G	C	1342.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.179;DP=767;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-1.209;SOR=0.559	GT:AD:DP:GQ:PL	0/1:44,50:94:99:1356,0,1094	18	0	1	0
chr19	18538417	18538417	G	C	exonic	FKBP8	.	nonsynonymous SNV	FKBP8:NM_001308373:exon5:c.C568G:p.P190A,FKBP8:NM_012181:exon5:c.C571G:p.P191A	.	425	1090	7	0	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	.	0.0010	0.00379393	0.0030	0.0002	0.0012	0.0002	0	0.0009	0.0051	0.0165	0.0025291	391	154602	rs113307565	0.0026	0.0026	0.0022	0.0029	0.0162	0.0025	0.0025	0.0155	0.0153	0.0002	0.0015	0	5.039e-05	0.0002	0.0010	0.0019	0.0028	0.0162	0.0015	0.0015	0.0013	0.0017	0.0163	0.0013	0.0012	0.0134	0.0124	0.0002	0	0.0012	0	0.0004	9.411e-05	0	0.0016	0.0005	0.0163	0.006	0.61437	D	0.364	0.92824	T	0.138	0.45573	B	0.018	0.31689	B	0.000001	0.62929	D	0.058375	0.999998	0.81001	D	1.72	0.44442	L	0.47	0.63077	T	-7.1	0.93974	D	0.416	0.45898	-0.8393	0.52693	T	0.139	0.45697	T	10	0.009152561	0.00207	T	.	.	.	0.167	0.42761	.	.	0.48586904234	0.48219	0.71845436773559	0.71788	0.849720421971	0.68465	0.59255361557	0.51855	T	0.646408	0.89217	D	-0.346707	0.04937	T	-0.257171	0.49105	T	0.0589336416788403	0.06999	T	0.868613	0.58582	D	0.76689696	0.81862	0.39735705	0.64353	0.76689696	0.81863	0.39735705	0.64353	-7.45	0.57258	T	.	.	0.118	0.44161	B	.;.;.;.;.;.	.;.;.;.;.;.	3.592114	0.50690	23.0	0.96582104981495587	0.30337	0.91828	0.54350	D	AEFDBCI	0.703085	0.65924	D	0.0745448519365888	0.45277	2.78698	0.138565094324628	0.46540	2.898283	0.624409368484252	0.21913	0.706548	0.73137	0	0.702456	0.74545	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	4.04	4.04	0.46262	4.303000	0.58893	9.781000	0.81598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	15.345	0.74043	917	0.20147	.;FKBP-type peptidyl-prolyl cis-trans isomerase domain|FKBP-type peptidyl-prolyl cis-trans isomerase domain;FKBP-type peptidyl-prolyl cis-trans isomerase domain|FKBP-type peptidyl-prolyl cis-trans isomerase domain;.;FKBP-type peptidyl-prolyl cis-trans isomerase domain|FKBP-type peptidyl-prolyl cis-trans isomerase domain;FKBP-type peptidyl-prolyl cis-trans isomerase domain|FKBP-type peptidyl-prolyl cis-trans isomerase 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	0.001514	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1356.33	35	chr19	18538417	.	G	C	1356.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.108;DP=743;ExcessHet=0;FS=3.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-1.134;SOR=0.391	GT:AD:DP:GQ:PL	0/1:49,56:105:99:1370,0,1359	18	0	1	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	30912.4	64	chr19	20624371	.	G	*	30912.4	.	AC=10;AF=0.313;AN=32;BaseQRankSum=1.9;DP=1614;ExcessHet=0.9163;FS=1.409;InbreedingCoeff=0.1244;MLEAC=11;MLEAF=0.344;MQ=58.38;MQRankSum=-2.592;QD=22.29;ReadPosRankSum=2.61;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,79:79:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1448,155,0:20624327	11	5	0	3
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	29655.5	64	chr19	20624379	.	C	*	29655.5	.	AC=10;AF=0.313;AN=32;BaseQRankSum=2.05;DP=1564;ExcessHet=0.9163;FS=1.397;InbreedingCoeff=0.1244;MLEAC=11;MLEAF=0.344;MQ=58.21;MQRankSum=-2.479;QD=21.43;ReadPosRankSum=0.295;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,79:79:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1448,155,0:20624327	11	5	0	3
chr19	22759000	22759000	A	T	exonic	ZNF99	.	nonsynonymous SNV	ZNF99:NM_001080409:exon4:c.T909A:p.H303Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.00282343698025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	3.78	0.95251	H	-2.18	0.86722	D	-6.7	0.92476	D	0.157	0.18649	0.045	0.83151	D	0.755	0.91637	D	9	0.23535162	0.40594	T	0.002823	0.05898	T	0.210	0.50028	.	.	0.305086939656	0.30112	0.018168001828132368	0.01770	0.125861384689	0.14188	0.524907052517	0.42317	T	0.23825	0.60611	T	-0.131022	0.31331	T	-0.42598	0.30392	T	0.482763366607561	0.31998	T	0.0893911	0.07732	T	0.03825647	0.05063	0.053257383	0.08936	0.03825647	0.05063	0.053257383	0.08936	-10.576	0.77283	D	.	.	0.576	0.69771	P	.;.	.;.	1.166233	0.15557	11.94	0.6794574473567333	0.08507	0.04619	0.10280	N	AEFBI	0.054170	0.09825	N	-0.226524877554568	0.32049	1.803346	-0.587174488381215	0.19827	1.065533	1.36854833728926E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.34	1.34	0.21018	-1.105000	0.03433	.	.	0.233000	0.18164	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7946:0.0:0.2054:0.0	4.067	0.09342	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1907.33	75	chr19	22759000	.	A	T	1907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.52;DP=1104;ExcessHet=0;FS=1.344;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.86;MQRankSum=1.41;QD=13.62;ReadPosRankSum=-0.288;SOR=0.544	GT:AD:DP:GQ:PL	0/1:71,69:140:99:1921,0,2000	18	0	1	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.282981	0.237374	0.312500	0.260234	0.250000	0.301724	0.234756	0.329545	0.1579	1182.37	210	chr19	32999679	.	G	A	1182.37	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-3.027;DP=3336;ExcessHet=2.0135;FS=2.622;InbreedingCoeff=-0.1869;MLEAC=6;MLEAF=0.158;MQ=55.09;MQRankSum=-5.133;QD=1;ReadPosRankSum=4.16;SOR=0.749	GT:AD:DP:GQ:PL	0/1:189,40:229:99:328,0,5257	13	0	6	0
chr19	35352089	35352089	G	A	exonic	FFAR1	.	nonsynonymous SNV	FFAR1:NM_005303:exon1:c.G538A:p.G180S	.	417	1097	8	0	0	8	0.00363306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.00644976338117	0.0031	0.00159744	0.0031	0.0005	0.0062	0.0001	0.0013	0.0039	0.0070	0.0015	0.0030724	475	154602	rs146654047	0.0033	0.0033	0.0033	0.0033	0.0071	0.0032	0.0032	0.0054	0.0048	0.0006	0.0048	0.0018	5.039e-05	0.0015	0.0071	0.0037	0.0030	0.0013	0.0034	0.0034	0.0033	0.0034	0.0063	0.0031	0.0030	0.0053	0.0049	0.0008	0.0154	0.0063	0.0017	0.0002	0.0031	0.0170	0.0045	0.0052	0.0017	0.719	0.03937	T	0.509	0.10857	T	0.9	0.49598	P	0.393	0.44248	B	0.089768	0.20410	U	0.368803	0.944377	0.26693	N	2.045	0.56016	M	1.26	0.36330	T	1.02	0.01369	N	0.29	0.32812	-1.0765	0.08043	T	0.037	0.15770	T	10	0.009789884	0.00220	T	0.00645	0.16985	T	0.210	0.50028	.	.	0.768492288142	0.76637	0.3387500136677517	0.33788	0.816357047678	0.66954	0.381714254618	0.22500	T	0.076331	0.35392	T	-0.324809	0.06511	T	-0.235337	0.51253	T	0.0306727178812722	0.02094	T	0.679032	0.28770	T	0.039642032	0.05511	0.053662587	0.09083	0.039642032	0.05511	0.053662587	0.09082	-2.989	0.10063	T	.	.	0.114	0.22789	B	.	.	2.860469	0.37796	20.6	0.99624962377856197	0.75655	0.88169	0.47979	D	AEFDBCI	0.380739	0.46326	N	-0.162654281514374	0.34697	1.983671	-0.130512196568885	0.34167	1.962341	0.857522924157252	0.25162	0.660377	0.49826	0	0.694456	0.67091	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.8	2.72	0.31179	4.437000	0.59698	2.934000	0.35631	0.654000	0.53741	1.000000	0.71638	0.999000	0.35428	0.125000	0.19370	0.0:0.2027:0.7973:0.0	10.878	0.46129	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	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.015306	0.005435	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	2185.33	34	chr19	35352089	.	G	A	2185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=812;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.149;SOR=0.679	GT:AD:DP:GQ:PL	0/1:86,83:169:99:2199,0,2060	18	0	1	0
chr19	35511468	35511468	A	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	903.11	81	chr19	35511468	.	A	*	903.11	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.624;DP=1036;ExcessHet=0.1204;FS=1.808;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=-1.292;SOR=0.842	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,57:57:99:.:.:2580,183,0:.	13	2	4	0
chr19	35511491	35511491	C	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	699.14	81	chr19	35511491	.	C	*	699.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.41;DP=1048;ExcessHet=0.1204;FS=1.128;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=0.413;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,57:57:99:.:.:2580,183,0:.	13	2	4	0
chr19	36720655	36720655	T	C	exonic	ZNF567	.	nonsynonymous SNV	ZNF567:NM_001322911:exon5:c.T1838C:p.I613T,ZNF567:NM_001322912:exon5:c.T1838C:p.I613T,ZNF567:NM_152603:exon5:c.T1838C:p.I613T,ZNF567:NM_001300979:exon6:c.T1931C:p.I644T,ZNF567:NM_001322913:exon6:c.T1931C:p.I644T,ZNF567:NM_001322914:exon6:c.T1931C:p.I644T,ZNF567:NM_001322916:exon6:c.T1931C:p.I644T,ZNF567:NM_001322917:exon6:c.T1931C:p.I644T,ZNF567:NM_001322919:exon6:c.T1931C:p.I644T,ZNF567:NM_001322915:exon7:c.T1931C:p.I644T,ZNF567:NM_001322918:exon7:c.T1931C:p.I644T,ZNF567:NM_001322920:exon7:c.T1931C:p.I644T	.	432	1002	84	4	0	92	0.0438931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	.	0.0050	0.014377	0.0132	0.0005	0.0045	0.0002	0.0015	0.0067	0.0208	0.0880	0.012917	1997	154602	rs140175549	0.0096	0.0100	0.0077	0.0115	0.0796	0.0095	0.0094	0.0779	0.0772	0.0008	0.0052	0.0101	0.0002	0.0015	0.0211	0.0059	0.0114	0.0796	0.0070	0.0070	0.0062	0.0077	0.0728	0.0066	0.0065	0.0665	0.0641	0.0009	0.0022	0.0060	0.0086	0.0002	0.0009	0.0272	0.0075	0.0100	0.0728	0.025	0.47745	D	0.035	0.52389	D	0.037	0.20876	B	0.014	0.16862	B	0.001837	0.00831	N	3.122940	1	0.81001	D	-0.26	0.03792	N	3.2	0.08283	T	0.06	0.06253	N	0.052	0.02366	-1.0035	0.28903	T	0.013	0.05177	T	10	0.0017394125	0.00022	T	.	.	.	0.116	0.32463	.	.	.	.	0.02467897446445342	0.02418	0.341437195331	0.36074	0.370252728462	0.20868	T	0.012319	0.10847	T	-0.63367	0.00091	T	-0.622987	0.10953	T	0.00912857202348307	0.00115	T	0.367963	0.08605	T	0.09304879	0.21845	0.085792944	0.19833	0.09304879	0.21844	0.085792944	0.19832	-2.883	0.09406	T	.	.	0.052	0.00742	B	.;.;.	.;.;.	0.981068	0.13585	10.11	0.97326509846944032	0.33403	0.00094	0.00618	N	AEFGBHCI	0.087069	0.17654	N	-0.628539992432899	0.18090	0.9364359	-0.538686525464082	0.21106	1.140228	0.999444655585273	0.39736	0.615465	0.37627	0	0.633656	0.55848	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	4.88	4.88	0.63131	0.655000	0.24618	.	.	0.497000	0.22564	0.002000	0.15269	0.000000	0.08366	0.780000	0.36908	0.0:0.0:0.0:1.0	11.057	0.47145	604	0.67577	Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026183	0.000000	0.012228	0.011696	0.000000	0.008621	0.024390	0.071970	0.1053	3775.43	35	chr19	36720655	.	T	C	3775.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.645;DP=869;ExcessHet=0.7564;FS=2.009;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.792;SOR=0.845	GT:AD:DP:GQ:PL	0/1:45,33:78:99:887,0,1196	15	0	4	0
chr19	38352396	38352396	A	G	exonic	CATSPERG	.	nonsynonymous SNV	CATSPERG:NM_001330496:exon8:c.A961G:p.T321A,CATSPERG:NM_021185:exon8:c.A961G:p.T321A	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0157900779445	.	.	4.256e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs764197189	1.429e-05	1.368e-05	8.457e-06	2.028e-05	8.834e-05	9.33e-06	7.58e-06	4.063e-05	2.853e-05	0	0	0	0	0	0	1.019e-05	3.436e-05	8.834e-05	1.98e-05	1.972e-05	1.29e-05	2.704e-05	4.848e-05	5.27e-06	2.46e-06	8.03e-06	3.01e-06	4.848e-05	0	0	0	0	0	0	1.472e-05	0	0	0.115	0.28520	T	0.18	0.32675	T	0.86	0.53363	P	0.352	0.42883	B	0.149897	0.18003	N	0.534796	0.793755	0.29195	N	2.175	0.60977	M	1.36	0.34452	T	-2.71	0.57762	D	0.229	0.33250	-0.9614	0.38916	T	0.097	0.36367	T	10	0.21596742	0.38165	T	0.01579	0.36715	T	0.083	0.24192	0.334	0.32167	0.407357902709	0.40350	0.3758775763849674	0.37501	0.403179438654	0.41262	0.383374601603	0.22734	T	0.070092	0.33875	T	-0.337833	0.05540	T	-0.486382	0.23771	T	0.485686987638474	0.32106	T	0.514149	0.17180	T	0.093576476	0.21981	0.10754655	0.25892	0.093576476	0.21981	0.10754655	0.25891	-3.58	0.17568	T	.	.	0.129	0.32324	B	.;.;.	.;.;.	2.097187	0.26679	17.20	0.99441448935950094	0.64770	0.72180	0.35339	D	AEFDBI	0.228440	0.35210	N	0.145902305826406	0.48618	3.071882	0.123378785830496	0.45748	2.83244	0.120395014148404	0.16867	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.56	4.51	0.54589	2.798000	0.47578	2.408000	0.32627	-0.103000	0.15852	0.973000	0.34540	0.832000	0.27222	0.252000	0.23314	0.8283:0.0:0.0:0.1717	8.567	0.32708	613	0.66686	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1457.33	35	chr19	38352396	.	A	G	1457.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.555;DP=759;ExcessHet=0;FS=8.381;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-1.053;SOR=1.204	GT:AD:DP:GQ:PL	0/1:61,60:121:99:1471,0,1644	18	0	1	0
chr19	38915624	38915624	-	CCAGGCAGC	exonic	SARS2	.	nonframeshift insertion	SARS2:NM_017827:exon16:c.1538_1539insGCTGCCTGG:p.G513_Q514insLPG,SARS2:NM_001145901:exon17:c.1544_1545insGCTGCCTGG:p.G515_Q516insLPG	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, Autosomal recessive	1	1493	28	0	0	28	0.00928998	.	.	.	211871	SARS2-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0011	0.00259585	0.0023	0.0004	0.0012	0	0.0014	0.0018	0.0022	0.0081	0.0015368	40	26028	rs551671819	0.0023	0.0023	0.0022	0.0024	0.0077	0.0023	0.0022	0.0072	0.0070	0.0004	0.0013	0.0016	2.519e-05	0.0021	0.0057	0.0021	0.0026	0.0077	0.0015	0.0016	0.0012	0.0019	0.0071	0.0014	0.0013	0.0052	0.0045	9.624e-05	0	0.0008	0.0023	0	0.0025	0.0068	0.0022	0	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3030.29	35	chr19	38915624	.	G	GCCAGGCAGC	3030.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.574;DP=1319;ExcessHet=0;FS=1.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.37;ReadPosRankSum=-1.417;SOR=0.836	GT:AD:DP:GQ:PL	0/1:85,80:165:99:3044,0,3326	18	0	1	0
chr19	39875925	39875925	C	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon23:c.G10066A:p.G3356S	.	411	1095	16	0	0	16	0.00725295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	.	7.7e-05	0.00279553	0.0023	0	0.0003	0	0	0.0002	0.0063	0.0144	0.0018305	283	154602	rs200280608	0.0011	0.0010	0.0006	0.0017	0.0149	0.0011	0.0011	0.0142	0.0139	7.603e-05	2.684e-05	5.93e-05	0	0	0.0025	0.0001	0.0010	0.0149	0.0006	0.0006	0.0004	0.0009	0.0178	0.0005	0.0005	0.0148	0.0137	0	0	0	0	0	9.423e-05	0.0034	0.0001	0	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003043	0.000000	0.001359	0.002941	0.000000	0.000000	0.009259	0.007692	0.05263	2805.83	46	chr19	39875925	.	C	T	2805.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.52;DP=1456;ExcessHet=0.119;FS=4.394;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.046;SOR=0.48	GT:AD:DP:GQ:PL	0/1:67,63:130:99:1550,0,1482	17	0	2	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	853.21	33	chr19	40667990	.	CTGT	*	853.21	.	AC=24;AF=0.632;AN=38;DP=856;ExcessHet=5.6906;FS=0.635;InbreedingCoeff=-0.2859;MLEAC=24;MLEAF=0.632;MQ=60;QD=1.1;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,20:42:99:0|1:40667960_TTGC_T:1740,927,864:40667960	1	6	12	0
chr19	40667993	40668002	TTGCTGTTGC	0	exonic	NUMBL	.	.	.	.	438	226	37	0	821	858	0.0756646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	78.42	33	chr19	40667993	.	TTGCTGTTGC	*	78.42	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.002;DP=861;ExcessHet=1.8686;FS=0.664;InbreedingCoeff=-0.0857;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=0.1;ReadPosRankSum=0.057;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,22:42:14:1|1:40667960_TTGC_T:966,14,0:40667960	1	7	11	0
chr19	40749800	40749800	T	C	exonic	C19orf54	.	nonsynonymous SNV	C19orf54:NM_001353806:exon1:c.A4G:p.T2A,C19orf54:NM_001353809:exon1:c.A4G:p.T2A,C19orf54:NM_198476:exon1:c.A4G:p.T2A	.	419	1074	28	1	0	30	0.0137741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	0.00459265	0.0066	0	0.0091	0	0	0.0040	0.0217	0.0397	0.0012031	186	154602	rs77405258	0.0032	0.0031	0.0027	0.0037	0.0214	0.0031	0.0030	0.0205	0.0201	0.0005	0.0015	0.0019	5.896e-05	0.0017	0.0129	0.0022	0.0043	0.0214	0.0023	0.0023	0.0021	0.0024	0.0166	0.0021	0.0020	0.0137	0.0126	0.0003	0	0.0009	0.0012	0	0.0010	0.0068	0.0032	0.0043	0.0166	0.106	0.29688	T	0.686	0.05995	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.958332	0.38070	D	1.39	0.34934	L	.	.	.	-0.12	0.08809	N	0.068	0.04072	-1.0706	0.09282	T	0.085	0.33071	T	8	0.005978763	0.00134	T	.	.	.	0.071	0.20720	.	.	0.0401082797425	0.02173	0.17448304156321293	0.17367	0.0655047151774	0.07310	.	.	.	0.014124	0.12084	T	-0.56184	0.00247	T	-0.563565	0.16044	T	0.00801682386829881	0.00095	T	0.292471	0.05369	T	0.047277898	0.08055	0.06292982	0.12389	0.047277898	0.08055	0.06292982	0.12389	-1.865	0.02710	T	.	.	0.074	0.05188	B	.	.	2.192509	0.27955	17.64	0.95269432342691551	0.26549	0.62380	0.31764	D	AEFDGBHCI	0.108007	0.21501	N	-0.618643317104922	0.18384	0.9540536	-0.55448913479412	0.20687	1.115675	0.999999828014593	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.15	1.97	0.25278	2.188000	0.42243	.	.	0.665000	0.62972	0.999000	0.42656	0.998000	0.33993	0.641000	0.32449	0.0:0.2675:0.0:0.7325	5.239	0.14782	488	0.76887	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018223	0.000000	0.023529	0.004167	0.125000	0.088235	0.017647	0.032609	0.07895	4577.79	75	chr19	40749800	.	T	C	4577.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.415;DP=1652;ExcessHet=0.3672;FS=1.751;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.756;SOR=0.852	GT:AD:DP:GQ:PL	0/1:84,69:153:99:1717,0,2091	16	0	3	0
chr19	42095395	42095395	A	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.T1022C:p.I341T,POU2F2:NM_001207026:exon11:c.T1022C:p.I341T,POU2F2:NM_001247994:exon11:c.T974C:p.I325T,POU2F2:NM_002698:exon11:c.T974C:p.I325T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.931	0.491804921791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.997	0.77913	D	0.977	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.825	0.47900	L	-4.25	0.97054	D	-4.24	0.76015	D	0.845	0.86297	1.045	0.98021	D	0.926	0.97544	D	10	0.92589384	0.91938	D	0.491805	0.95011	D	0.931	0.98378	0.762	0.89053	0.979705899228	0.97949	0.9814169942772814	0.98133	2.91012196725	0.99100	0.8950933218	0.95878	D	0.808246	0.99683	D	0.525352	0.95038	D	0.516856	0.94964	D	0.994730926619758	0.86208	D	0.952605	0.82322	D	0.7007408	0.78097	0.57755935	0.75522	0.7007408	0.78099	0.57755935	0.75523	-12.58	0.87561	D	.	.	0.997	0.97319	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.697003	0.75326	26.3	0.99835600142926961	0.91714	0.97930	0.78210	D	AEFBI	0.935600	0.93069	D	0.708200846287782	0.80171	7.235341	0.648994966838081	0.78535	6.895993	0.99999985343175	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	9.263000	0.94779	11.242000	0.90457	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.324	0.54323	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	194.16	35	chr19	42095395	.	A	G	194.16	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.584;DP=1387;ExcessHet=2.0135;FS=70.383;InbreedingCoeff=-0.1719;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=-0.429;SOR=9.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:94,16:110:27:.:.:27,0,3268:.	13	0	6	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L,POU2F2:NM_001207026:exon11:c.G1018C:p.V340L,POU2F2:NM_001247994:exon11:c.G970C:p.V324L,POU2F2:NM_002698:exon11:c.G970C:p.V324L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2188	1077.81	113	chr19	42095399	.	C	G	1077.81	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.952;DP=1644;ExcessHet=2.9153;FS=124.913;InbreedingCoeff=-0.2847;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=0.285;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:77,27:108:99:.:.:296,0,1631:.	9	0	7	3
chr19	42272064	42272064	A	G	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001304815:exon2:c.A281G:p.K94R,CIC:NM_001379480:exon2:c.A281G:p.K94R,CIC:NM_001379482:exon2:c.A281G:p.K94R	.	409	1112	1	0	0	1	0.000449438	.	.	.	1291899	Intellectual_disability,_autosomal_dominant_45|not_provided	MONDO:MONDO:0030910,MedGen:C4539848,OMIM:617600|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	0.218647824824	.	0.00159744	0	0	.	.	.	0	.	.	0.0005763	15	26028	rs539540626	0.0003	0.0002	0.0002	0.0003	0.0151	0.0002	0.0002	0.0116	0.0104	0	0	0	0	4.797e-05	0.0008	6.316e-05	0.0002	0.0151	0.0004	0.0004	0.0002	0.0006	0.0116	0.0003	0.0003	0.0092	0.0083	4.811e-05	0	0	0	0	0	0	1.471e-05	0	0.0116	.	.	.	0.374	0.16280	T	.	.	.	.	.	.	.	.	.	.	0.992264	0.23909	N	.	.	.	-5.05	0.98611	D	.	.	.	0.202	0.22357	.	.	.	.	.	.	.	0.011375397	0.00249	T	0.218648	0.87669	D	.	.	.	.	0.82735623235	0.82572	.	.	.	.	.	.	.	0.005915	0.34783	T	0.144599	0.68761	D	-0.03007	0.68364	D	.	.	.	0.735926	0.37546	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.18622	B	.;.	.;.	3.903518	0.56875	23.8	0.98988730009747605	0.49902	0.83150	0.42292	D	AEFBCI	0.354588	0.44661	N	.	.	.	.	.	.	0.999999993524844	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.08	4.08	0.46880	4.845000	0.62551	11.130000	0.86775	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.747000	0.35681	1.0:0.0:0.0:0.0	11.333	0.48723	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	959.33	35	chr19	42272064	.	A	G	959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.386;DP=721;ExcessHet=0;FS=0.945;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.361;SOR=0.548	GT:AD:DP:GQ:PL	0/1:29,38:67:99:973,0,903	18	0	1	0
chr19	42733028	42733028	G	T	exonic	PSG3	.	nonsynonymous SNV	PSG3:NM_021016:exon3:c.C465A:p.N155K	.	8	1508	6	0	0	6	0.00198544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	7.7e-05	0.00299521	0.0015	0.0002	0	0	0	2.997e-05	0	0.0111	0.0013454	208	154602	rs371709630	0.0007	0.0007	0.0004	0.0009	0.0101	0.0006	0.0006	0.0095	0.0093	0.0001	4.472e-05	0	0	3.744e-05	0.0007	2.608e-05	0.0008	0.0101	0.0005	0.0005	0.0003	0.0006	0.0135	0.0004	0.0003	0.0109	0.0099	2.408e-05	0	0	0	0	0	0	4.411e-05	0	0.0135	0.04	0.42199	D	0.057	0.49942	T	0.0	0.02946	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	2.54	0.74080	M	3.07	0.08547	T	-3.67	0.70191	D	0.084	0.06454	-0.9888	0.32903	T	0.027	0.11618	T	9	0.0038850307	0.00074	T	.	.	.	0.024	0.04979	0.365	0.37199	0.230578612272	0.22657	0.05315956693181324	0.05257	0.00315874859178	0.00272	0.434398978949	0.29810	T	0.034183	0.33658	T	-0.72779	0.00025	T	-0.808802	0.01692	T	0.0209267453478754	0.00793	T	0.627737	0.24556	T	0.11937455	0.28109	0.09321106	0.22005	0.11937455	0.28109	0.09321106	0.22004	-7.469	0.57392	T	.	.	0.208	0.44847	B	.;.;.	.;.;.	0.767012	0.11369	7.984	0.89692995166051925	0.19017	0.00500	0.02358	N	AEFBI	0.028645	0.02562	N	-0.890552452434949	0.11066	0.5320809	-1.05388338464607	0.08626	0.4250551	1.723591011047E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.59	0.461	0.15901	-0.007000	0.12747	-1.271000	0.05852	-1.304000	0.01241	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.2435:0.0:0.7565:0.0	4.019	0.09144	423	0.81269	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003181	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	3038.33	36	chr19	42733028	.	G	T	3038.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.04;DP=883;ExcessHet=0;FS=2.932;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.43;MQRankSum=-9.831;QD=12.1;ReadPosRankSum=0.3;SOR=0.908	GT:AD:DP:GQ:PL	0/1:137,114:251:99:3052,0,3577	18	0	1	0
chr19	43018956	43018956	C	T	exonic	PSG11	.	nonsynonymous SNV	PSG11:NM_001113410:exon2:c.G157A:p.D53N,PSG11:NM_203287:exon2:c.G157A:p.D53N,PSG11:NM_002785:exon3:c.G523A:p.D175N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00105987157395	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1267022883	4.792e-06	4.79e-06	4.087e-06	5.505e-06	8.133e-05	1.99e-06	1.28e-06	3.773e-05	2.666e-05	0	0	0	0	0	0	0	0	8.133e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.875	0.03674	T	0.545	0.09588	T	0.003	0.11197	B	0.093	0.30104	B	.	.	.	.	1	0.08975	N	0.38	0.12130	N	2.68	0.12371	T	-1.67	0.39887	N	0.152	0.15609	-0.9344	0.43485	T	0.012	0.04747	T	8	0.05864039	0.06926	T	0.00106	0.01215	T	0.018	0.03083	0.332	0.31843	0.221734844693	0.21761	0.06298049032759721	0.06237	.	.	.	.	.	0.006006	0.05450	T	-0.552326	0.00282	T	-0.849626	0.00964	T	0.0581422553156064	0.06873	T	0.627137	0.24302	T	0.047050565	0.07978	0.06753293	0.13984	0.047050565	0.07978	0.06753293	0.13983	-1.194	0.01663	T	.	.	0.070	0.13456	B	.;.;.	.;.;.	-0.711992	0.01293	0.069	0.12087814356805068	0.00200	0.00109	0.00694	N	AEFI	0.034642	0.04326	N	-1.59606203991609	0.01284	0.05590272	-1.66063620720745	0.01322	0.05964777	3.09648023882633E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.866	0.10118	-2.929000	0.00755	-20.000000	0.00162	-3.588000	0.00073	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	709	0.56835	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5589.33	39	chr19	43018956	.	C	T	5589.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.166;DP=1083;ExcessHet=0;FS=7.422;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-0.321;SOR=1.015	GT:AD:DP:GQ:PL	0/1:172,213:385:99:5603,0,4410	18	0	1	0
chr19	45498640	45498640	C	A	exonic	PPM1N	.	nonsynonymous SNV	PPM1N:NM_001080401:exon1:c.C168A:p.H56Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0371283307711	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1470337318	5.548e-06	5.472e-06	3.103e-06	8.1e-06	6.664e-05	2.31e-06	1.48e-06	2.255e-05	1.347e-05	0	0	0	0	0	0	2.938e-06	0	6.664e-05	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.014	0.53172	D	0.103	0.38305	T	0.09	0.25173	B	0.094	0.30180	B	.	.	.	.	1	0.81001	D	0.895	0.22405	L	1.57	0.29342	T	-0.29	0.11728	N	0.2	0.22098	-1.0799	0.07368	T	0.035	0.15204	T	9	0.08162439	0.13382	T	0.037128	0.57424	D	0.051	0.14325	0.234	0.16305	0.0401082797425	0.02173	0.15347563145219442	0.15269	2.331011174	0.96675	0.763875961304	0.76507	T	0.00944	0.08594	T	-0.182646	0.23342	T	-0.500135	0.22333	T	0.579374253749847	0.35594	D	0.431557	0.11736	T	0.13585573	0.31516	0.20663705	0.44887	0.13585573	0.31516	0.20663705	0.44886	-2.084	0.03516	T	.	.	0.174	0.38190	B	.	.	1.872669	0.23790	16.15	0.90384137946427578	0.19646	0.22005	0.21599	N	ALL	0.135718	0.25614	N	-0.848302406639686	0.12092	0.5873232	-0.807875419962182	0.14305	0.7467685	0.999999995125916	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	3.48	1.33	0.20958	-0.458000	0.06813	-2.091000	0.04227	0.466000	0.21733	0.051000	0.21449	0.000000	0.08366	0.601000	0.31412	0.0:0.745:0.0:0.255	5.633	0.16799	797	0.45241	PPM-type phosphatase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1389.33	33	chr19	45498640	.	C	A	1389.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=815;ExcessHet=0;FS=3.338;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.178;SOR=0.441	GT:AD:DP:GQ:PL	0/1:77,54:131:99:1403,0,1958	18	0	1	0
chr19	46624182	46624182	A	G	exonic	PTGIR	.	nonsynonymous SNV	PTGIR:NM_000960:exon2:c.T44C:p.V15A	.	415	1102	5	0	0	5	0.00226347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	.	0.0020	0.00219649	0.0151	0.0028	0	0.0087	0.1	0.0099	0	0.0256	0.0022833	353	154602	rs200213497	0.0064	0.0062	0.0062	0.0067	0.0117	0.0063	0.0063	0.0111	0.0108	0.0007	0.0012	0.0009	0.0001	0.0040	0.0025	0.0069	0.0048	0.0117	0.0042	0.0042	0.0045	0.0040	0.0116	0.0040	0.0039	0.0092	0.0083	0.0014	0	0.0014	0.0017	0.0006	0.0022	0	0.0069	0.0033	0.0116	0.746	0.03631	T	1.0	0.01155	T	0.176	0.28893	B	0.041	0.23986	B	0.000349	0.45440	D	0.139105	1	0.08975	N	0.2	0.09183	N	3.05	0.08721	T	0.5	0.02945	N	0.161	0.16864	-0.9488	0.41177	T	0.012	0.04558	T	10	0.0036742091	0.00067	T	.	.	.	0.083	0.24192	.	.	0.286848849266	0.28300	0.2825736262160615	0.28170	0.209316482217	0.23399	0.664229989052	0.62014	T	0.153645	0.49458	T	-0.547137	0.00304	T	-0.547024	0.17612	T	0.0041909399493735	0.00045	T	0.524848	0.17228	T	0.05219638	0.09698	0.066777565	0.13724	0.05219638	0.09698	0.066777565	0.13724	-0.871	0.00867	T	.	.	0.078	0.11317	B	.;.	.;.	1.641539	0.20951	14.98	0.8406781971316204	0.15078	0.11004	0.16342	N	AEFDGBCI	.	.	.	-0.535002104525339	0.20955	1.108606	-0.412098750142697	0.24642	1.35055	0.999988408478833	0.51787	0.542737	0.22433	0	0.685571	0.66316	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.57	3.5	0.39181	0.621000	0.24112	6.407000	0.55588	0.587000	0.30956	0.000000	0.06391	1.000000	0.68203	0.982000	0.59238	0.6766:0.3234:0.0:0.0	8.342	0.31413	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004242	0.000000	0.005571	0.009375	0.000000	0.018519	0.006803	0.003906	0.02632	366.33	39	chr19	46624182	.	A	G	366.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.697;DP=647;ExcessHet=0;FS=3.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=1.66;SOR=0.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,14:33:99:0|1:46624175_C_T:380,0,546:46624175	18	0	1	0
chr19	47538258	47538258	G	C	exonic	ZNF541	.	nonsynonymous SNV	ZNF541:NM_001277075:exon9:c.C2978G:p.P993R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.0186383257144	.	0.00139776	0.0024	0	0	0	0	0	0.0053	0.0061	0.0003493	54	154602	rs570301192	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	3.165e-05	0	0	0	0	0	6.488e-06	0.0005	0.0054	0.0002	0.0002	0.0002	0.0002	0.0052	0.0001	0.0001	0.0036	0.0031	0	0	0	0	0	0	0	5.881e-05	0	0.0052	0.0	0.91255	D	0.006	0.70582	D	.	.	.	.	.	.	0.014161	0.28613	N	0.250413	0.974298	0.81001	D	.	.	.	1.95	0.24472	T	-8.51	0.97315	D	0.536	0.56403	-0.9318	0.43874	T	0.130	0.43968	T	10	0.008809686	0.00200	T	0.018638	0.40769	T	0.341	0.66297	.	.	0.359151904892	0.35523	0.6260393653833596	0.62536	.	.	0.641952514648	0.58842	T	0.098929	0.40324	T	-0.292954	0.09341	T	-0.193043	0.55304	T	0.272660439958809	0.23861	T	0.941106	0.79443	D	0.5872424	0.72002	0.7489079	0.85158	0.5872424	0.72003	0.7489079	0.85159	-12.679	0.87997	D	.	.	0.352	0.56690	A	.;.	.;.	4.268868	0.64932	24.8	0.99850615889516114	0.93013	0.96940	0.71775	D	AEFDBI	0.811897	0.73476	D	0.714875503603125	0.80608	7.331933	0.694648232823937	0.81970	7.653263	0.998939973206353	0.38009	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.530356	0.10902	0	.	.	4.98	4.98	0.65679	7.653000	0.82698	8.615000	0.77786	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	15.278	0.73456	862	0.33134	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	842.33	33	chr19	47538258	.	G	C	842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=712;ExcessHet=0;FS=0.919;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.568;SOR=0.511	GT:AD:DP:GQ:PL	0/1:42,32:74:99:856,0,1150	18	0	1	0
chr19	48443875	48443875	G	A	exonic	GRIN2D	.	nonsynonymous SNV	GRIN2D:NM_000836:exon14:c.G3949A:p.G1317S	Epileptic encephalopathy, early infantile, 46, Autosomal dominant	439	1065	17	1	0	19	0.00884132	.	.	.	1610322	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	.	0.0123802	0.0528	0	0.0312	0	0	0.0064	0.0125	0.0720	0.0048641	752	154602	rs191119443	0.0059	0.0058	0.0044	0.0074	0.0551	0.0058	0.0058	0.0537	0.0531	0.0005	0.0040	0.0047	3.448e-05	9.159e-05	0.0051	0.0030	0.0066	0.0551	0.0038	0.0037	0.0032	0.0043	0.0555	0.0035	0.0034	0.0501	0.0479	0.0008	0	0.0037	0.0040	0.0004	0	0	0.0028	0.0033	0.0555	0.401	0.10447	T	0.616	0.07543	T	0.011	0.15914	B	0.01	0.14941	B	0.911519	0.08549	U	0.924145	0.986144	0.24644	N	-0.205	0.04094	N	2.96	0.09542	T	0.17	0.05125	N	0.166	0.17553	-0.9666	0.37894	T	0.005	0.01725	T	10	0.0019791722	0.00028	T	.	.	.	0.035	0.08770	.	.	.	.	0.14639003486082292	0.14561	.	.	0.900060594082	0.96447	D	0.046192	0.27349	T	-0.613197	0.00121	T	-0.612612	0.11774	T	0.0198147061849218	0.00683	T	0.567543	0.20130	T	0.062713966	0.13127	0.07339499	0.15944	0.068769485	0.15009	0.07339499	0.15943	-3.692	0.19200	T	.	.	0.106	0.19839	B	.	.	3.550016	0.49897	22.9	0.9749647172538225	0.34272	0.39949	0.26327	N	AEFDBCI	0.124563	0.24068	N	-0.495661383120007	0.22223	1.185071	-0.335326958120525	0.26967	1.493161	0.999996145135024	0.74766	0.700653	0.57754	0	0.596491	0.49125	0	0.717052	0.78885	0	0.63947	0.58350	0	.	.	3.24	3.24	0.36257	1.751000	0.37967	10.920000	0.84231	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1385:0.0:0.8615:0.0	6.535	0.21543	958	0.09170	.	.	.	.	.	rs191119443	Likely benign	0	0	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	0.010808	0.006494	0.004601	0.009615	0.000000	0.000000	0.017730	0.021186	0.07895	1272.79	34	chr19	48443875	.	G	A	1272.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.337;DP=460;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-1.358;SOR=0.75	GT:AD:DP:GQ:PL	0/1:11,16:27:99:396,0,242	16	0	3	0
chr19	48703291	48703291	C	T	exonic	FUT2	.	nonsynonymous SNV	FUT2:NM_000511:exon2:c.C335T:p.P112L,FUT2:NM_001097638:exon2:c.C335T:p.P112L	.	419	1072	29	2	0	33	0.0151585	.	.	.	984435	Familial_Otitis_Media	.	no_assertion_criteria_provided	confers_sensitivity	.	.	.	.	.	.	.	.	0.734	.	0.0002	0.0373403	0.0191	0.0017	0.0017	0.0001	0	0.0002	0.0080	0.1352	0.0161511	2497	154602	rs200157007	0.0085	0.0085	0.0045	0.0125	0.1355	0.0083	0.0083	0.1334	0.1326	0.0009	0.0015	3.826e-05	0.0003	0	0.0057	0.0001	0.0075	0.1355	0.0055	0.0055	0.0028	0.0083	0.1580	0.0052	0.0050	0.1486	0.1449	0.0009	0	0.0016	0	0.0010	0	0	0.0001	0.0028	0.1580	0.0	0.91255	D	0.002	0.79402	D	0.985	0.61118	D	0.753	0.56122	P	.	.	.	.	0.999705	0.48408	D	3.005	0.85968	M	-3.99	0.96308	D	-8.71	0.97656	D	0.365	0.40665	0.938	0.96210	D	0.914	0.97163	D	9	0.0043191016	0.00087	T	.	.	.	0.734	0.90721	.	.	.	.	0.57160739618024	0.57088	0.681278943641	0.60039	0.493828564882	0.37970	T	0.194935	0.55086	T	0.0583719	0.59409	T	0.265519	0.86352	D	0.091322503377181	0.11374	T	0.989801	0.96720	D	0.5129859	0.67853	0.48962316	0.70470	0.525641	0.68583	0.5260209	0.72616	-13.0	0.89364	D	.	.	0.656	0.71435	P	.;.;.	.;.;.	3.676686	0.52308	23.2	0.99745540007452138	0.83852	0.80024	0.39775	D	AEFBI	0.245940	0.36678	N	0.231645178045518	0.52736	3.446166	0.0461554953908435	0.41885	2.52402	2.69943540582741E-4	0.06244	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.622129	0.49086	0	.	.	4.66	2.52	0.29514	3.221000	0.50917	4.382000	0.43185	0.589000	0.31548	0.970000	0.34288	0.996000	0.32793	0.083000	0.17415	0.0:0.817:0.0:0.183	9.142	0.36072	878	0.29785	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.016633	0.000000	0.004076	0.020468	0.000000	0.000000	0.003049	0.071970	0.02632	1762.33	34	chr19	48703291	.	C	T	1762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=1458;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.95;MQRankSum=0.711;QD=12.96;ReadPosRankSum=-2.397;SOR=0.692	GT:AD:DP:GQ:PL	0/1:65,71:136:99:1776,0,1425	18	0	1	0
chr19	49190772	49190772	G	A	exonic	TRPM4	.	nonsynonymous SNV	TRPM4:NM_001321285:exon11:c.G1147A:p.G383R,TRPM4:NM_001321281:exon14:c.G1864A:p.G622R,TRPM4:NM_001321283:exon14:c.G1687A:p.G563R,TRPM4:NM_001321282:exon15:c.G601A:p.G201R,TRPM4:NM_001195227:exon16:c.G2209A:p.G737R,TRPM4:NM_017636:exon16:c.G2209A:p.G737R	Progressive familial heart block, type IB, Autosomal dominant	1	1503	18	0	0	18	0.00595238	0	0.008	.	471078	Cardiovascular_phenotype|not_provided|Progressive_familial_heart_block_type_IB|Hypertrophic_cardiomyopathy|TRPM4-related_disorder|not_specified	MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN239424|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.052	.	0.0016	0.00339457	0.0021	0.0007	0.0010	0	0	0.0017	0.0011	0.0076	0.0019663	304	154602	rs145847114	0.0019	0.0019	0.0017	0.0021	0.0080	0.0019	0.0018	0.0069	0.0067	0.0004	0.0016	0.0023	0	5.616e-05	0.0080	0.0016	0.0023	0.0073	0.0019	0.0019	0.0017	0.0020	0.0081	0.0017	0.0016	0.0061	0.0054	0.0006	0	0.0045	0.0032	0.0002	0	0.0068	0.0020	0.0024	0.0081	0.351	0.31532	T	0.383	0.44905	T	0.029	0.65571	B	0.004	0.54588	B	0.559069	0.11355	N	0.765258	0.999998	0.18198	N	1.215	0.30540	L	-0.78	0.73631	T	-0.86	0.23372	N	0.106	0.17140	-0.7843	0.56059	T	0.244	0.61272	T	10	0.0053512156	0.00158	T	.	.	.	0.052	0.14661	0.207	0.12356	0.414021929199	0.41020	0.29411502003148443	0.29324	0.341058034284	0.36042	0.426400899887	0.28717	T	0.113814	0.43114	T	-0.560977	0.00250	T	-0.574995	0.14994	T	0.0012355460696675	0.00012	T	0.631737	0.24648	T	0.055500925	0.10794	0.04793476	0.07013	0.07357339	0.16450	0.06681196	0.13737	-4.552	0.31563	T	.	.	0.080	0.07985	B	.;.	.;.	-0.448845	0.02037	0.184	0.38968747206885496	0.02660	0.00947	0.03649	N	AEFDBI	0.035433	0.04561	N	-1.65416017566898	0.01017	0.04411651	-1.80202939046551	0.00752	0.03355292	0.0736113551052467	0.15640	0.615465	0.37627	0	0.578056	0.33634	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.82	-7.16	0.01364	-0.841000	0.04467	-0.546000	0.08555	-0.890000	0.02392	0.001000	0.13787	0.000000	0.08366	0.246000	0.23158	0.505:0.2724:0.2225:0.0	5.659	0.16932	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.005051	0.004076	0.000000	0.000000	0.000000	0.012195	0.000000	0.02632	2487.33	35	chr19	49190772	.	G	A	2487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.66;DP=867;ExcessHet=0;FS=0.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.751;SOR=0.644	GT:AD:DP:GQ:PL	0/1:95,97:192:99:2501,0,2388	18	0	1	0
chr19	50667446	50667446	G	T	exonic	SHANK1	.	nonsynonymous SNV	SHANK1:NM_016148:exon23:c.C4514A:p.T1505K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0330272156004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.922	0.03004	T	0.0	0.02946	B	0.004	0.10090	B	0.961407	0.08221	U	0.970954	1	0.08975	N	1.1	0.28011	L	1.69	0.39781	T	-0.65	0.26639	N	0.067	0.05162	-0.9877	0.33175	T	0.068	0.27913	T	10	0.05259782	0.05319	T	0.033027	0.54691	D	0.048	0.13305	0.254	0.19378	0.161926535498	0.15789	0.06819523680299046	0.06757	0.815397431955	0.66911	0.904620289803	0.96936	D	0.06194	0.31785	T	-0.302181	0.08455	T	-0.671838	0.07491	T	0.0573816460938374	0.06750	T	0.688631	0.29780	T	0.061618365	0.12779	0.14971885	0.35340	0.061618365	0.12779	0.14971885	0.35339	-4.968	0.36490	T	.	.	0.276	0.51635	B	.;.;.;.	.;.;.;.	0.930014	0.13050	9.556	0.73736508521681143	0.10437	0.00858	0.03416	N	AEFDBI	0.060730	0.11562	N	-1.12936611628493	0.06126	0.2811727	-1.20471840085586	0.05834	0.2790799	0.150212263960954	0.17427	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	1.22	1.22	0.20300	2.248000	0.42812	2.923000	0.35574	0.450000	0.21304	0.057000	0.21666	0.484000	0.25117	0.006000	0.07323	0.0:0.0:0.6238:0.3762	4.565	0.11580	878	0.29785	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1228.33	36	chr19	50667446	.	G	T	1228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.91;DP=812;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-0.659;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,40:80:99:0|1:50667446_G_T:1242,0,1021:50667446	18	0	1	0
chr19	51127285	51127285	T	C	exonic	SIGLEC9	.	nonsynonymous SNV	SIGLEC9:NM_001198558:exon4:c.T1004C:p.V335A,SIGLEC9:NM_014441:exon4:c.T1004C:p.V335A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00408460355583	.	.	0.0001	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs748922424	3.565e-05	3.625e-05	2.045e-05	5.101e-05	0.0006	2.768e-05	2.507e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.659e-05	0.0006	6.57e-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	0.78490	D	0.044	0.57104	D	0.542	0.37927	P	0.388	0.44086	B	0.082429	0.20809	N	0.248067	1	0.08975	N	1.89	0.50145	L	2.09	0.20122	T	-1.53	0.37178	N	0.134	0.15046	-1.0561	0.12750	T	0.052	0.22230	T	10	0.06684211	0.09227	T	0.004085	0.09744	T	0.044	0.11924	0.696	0.83313	0.159798565429	0.15598	0.4064126557128737	0.40557	0.263506844727	0.28904	0.288315713406	0.08677	T	0.037755	0.24593	T	-0.428708	0.01509	T	-0.488286	0.23572	T	0.0642520233059357	0.07820	T	0.275872	0.04791	T	0.116416834	0.27458	0.12034492	0.29042	0.116416834	0.27458	0.12034492	0.29041	-7.94	0.60660	D	.	.	0.251	0.55644	B	.;.	.;.	2.457070	0.31646	18.80	0.94199609812416407	0.24433	0.07593	0.13604	N	AEFBI	0.096400	0.19462	N	-0.497739755894014	0.22155	1.180984	-0.657686277354566	0.18023	0.9609715	0.999260050256429	0.38940	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.19	2.19	0.26890	1.589000	0.36253	.	.	0.622000	0.51765	0.005000	0.17040	0.253000	0.23932	0.024000	0.12247	0.0:0.0:0.0:1.0	5.978	0.18621	946	0.12043	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	.	.	.	.	.	.	.	.	0.02632	584.33	33	chr19	51127285	.	T	C	584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.826;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.7;SOR=0.756	GT:AD:DP:GQ:PL	0/1:16,23:39:99:598,0,450	18	0	1	0
chr19	51630310	51630310	A	G	exonic	SIGLEC5	.	nonsynonymous SNV	SIGLEC5:NM_001384708:exon1:c.T26C:p.L9P,SIGLEC5:NM_001384709:exon1:c.T26C:p.L9P,SIGLEC5:NM_003830:exon1:c.T26C:p.L9P	.	.	.	.	.	.	.	.	.	.	.	2335793	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.542	.	.	.	0.0023	0	0	0	.	0	0	0.0455	4.53e-05	7	154602	rs778734174	0.0008	0.0006	0.0008	0.0008	0.0114	0.0008	0.0007	0.0081	0.0070	0.0003	0.0006	0.0023	0	3.43e-05	0.0114	0.0008	0.0013	0.0005	0.0008	0.0008	0.0008	0.0008	0.0012	0.0007	0.0006	0.0009	0.0008	0.0001	0	0.0006	0.0037	0	0.0002	0.0160	0.0011	0	0.0012	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.974	0.73157	D	.	.	.	.	0.997703	0.81001	D	3.335	0.90898	M	0.07	0.61677	T	.	.	.	0.749	0.74826	-0.3709	0.72934	T	0.374	0.73250	T	9	0.010930002	0.00241	T	.	.	.	.	.	0.789	0.91142	0.789146157882	0.78718	0.3248827059025105	0.32401	.	.	0.75994259119	0.75920	T	0.230329	0.59637	T	-0.157573	0.27136	T	-0.0396526	0.67725	D	0.179999564512428	0.19235	T	0.314968	0.06216	T	0.7530996	0.81048	0.7302631	0.84062	0.7530996	0.81050	0.7302631	0.84063	-9.142	0.68606	D	.	.	.	.	.	.	.	4.193550	0.63219	24.6	0.98720113167820978	0.45186	0.84761	0.43849	D	AEFDGBI	0.304384	0.41210	N	0.502157343738515	0.67218	5.052334	0.3790250892986	0.60274	4.213093	0.72629423438121	0.22991	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.06	3.0	0.33773	4.058000	0.57176	.	.	0.650000	0.52971	1.000000	0.71638	0.996000	0.32793	0.990000	0.65344	0.7871:0.0:0.0:0.2129	6.601	0.21895	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007031	0.000000	0.003676	0.010870	0.000000	0.067568	0.000000	0.000000	0.05263	82.8	9	chr19	51630310	.	A	G	82.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.967;DP=109;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0826;MLEAC=2;MLEAF=0.053;MQ=33.41;MQRankSum=0.967;QD=9.2;ReadPosRankSum=0.431;SOR=0.527	GT:AD:DP:GQ:PL	0/1:1,2:3:23:57,0,23	17	0	2	0
chr19	52416068	52416068	G	A	exonic	ZNF528	.	nonsynonymous SNV	ZNF528:NM_032423:exon7:c.G1216A:p.E406K	.	421	1099	2	0	0	2	0.000909091	.	.	.	716664	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.203	.	0.0111	0.00978435	0.0031	0.0336	0.0021	0	0	0.0001	0.0056	0	0.0029689	459	154602	rs61997201	0.0010	0.0010	0.0011	0.0009	0.0322	0.0009	0.0009	0.0306	0.0299	0.0322	0.0026	0	0	0	0.0043	4.946e-05	0.0020	0.0001	0.0092	0.0092	0.0094	0.0090	0.0318	0.0088	0.0086	0.0303	0.0298	0.0318	0.0088	0.0039	0	0	0	0.0034	4.41e-05	0.0057	0	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.81001	D	1.66	0.42513	L	1.86	0.24285	T	-3.36	0.66549	D	0.136	0.13341	-1.0319	0.19841	T	0.031	0.13286	T	9	0.004878819	0.00104	T	.	.	.	0.203	0.48915	.	.	0.511907979761	0.50829	0.013010611711278805	0.01259	0.0590495618008	0.06558	0.347129583359	0.17499	T	0.115285	0.43376	T	-0.55737	0.00263	T	-0.547638	0.17553	T	0.0241147925947462	0.01159	T	0.540346	0.18307	T	0.2723458	0.50304	0.3510622	0.60706	0.2723458	0.50304	0.3510622	0.60706	-7.11	0.54832	T	.	.	0.475	0.63409	A	.	.	2.636881	0.34303	19.59	0.99767413990791265	0.85583	0.51027	0.28800	D	AEFBCI	0.318172	0.42195	N	0.052805968092687	0.44271	2.704252	-0.157686899341948	0.33113	1.89083	0.781812715402645	0.23857	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.615788	0.45269	1	.	.	2.08	2.08	0.26079	3.073000	0.49755	.	.	0.564000	0.28548	0.908000	0.31627	0.000000	0.08366	0.128000	0.19490	0.0:0.0:1.0:0.0	11.173	0.47808	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.015152	0.014946	0.014620	0.000000	0.008621	0.000000	0.003788	0.02632	1459.33	34	chr19	52416068	.	G	A	1459.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.8;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=-1.946;SOR=0.728	GT:AD:DP:GQ:PL	0/1:80,57:137:99:1473,0,2079	18	0	1	0
chr19	52613160	52613160	G	A	exonic	ZNF83	.	nonsynonymous SNV	ZNF83:NM_001277951:exon3:c.C1405T:p.R469C,ZNF83:NM_018300:exon3:c.C1405T:p.R469C,ZNF83:NM_001105552:exon4:c.C1405T:p.R469C,ZNF83:NM_001277946:exon4:c.C1405T:p.R469C,ZNF83:NM_001348016:exon4:c.C1405T:p.R469C,ZNF83:NM_001105550:exon5:c.C1405T:p.R469C,ZNF83:NM_001105551:exon5:c.C1405T:p.R469C,ZNF83:NM_001277948:exon5:c.C1405T:p.R469C,ZNF83:NM_001277949:exon5:c.C1405T:p.R469C,ZNF83:NM_001277952:exon5:c.C1405T:p.R469C,ZNF83:NM_001105549:exon6:c.C1405T:p.R469C,ZNF83:NM_001277945:exon6:c.C1405T:p.R469C,ZNF83:NM_001277947:exon6:c.C1405T:p.R469C,ZNF83:NM_001348018:exon6:c.C1405T:p.R469C,ZNF83:NM_001348015:exon7:c.C1405T:p.R469C,ZNF83:NM_001348017:exon7:c.C1405T:p.R469C,ZNF83:NM_001348019:exon7:c.C1405T:p.R469C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0056669528179	.	0.000199681	2.471e-05	0.0003	0	0	0	0	0	0	2.59e-05	4	154602	rs571856338	1.095e-05	1.094e-05	1.361e-05	8.252e-06	5.975e-05	6.48e-06	5.24e-06	9.9e-06	3.7e-06	5.975e-05	2.238e-05	0	0	0	0	8.994e-06	4.968e-05	0	5.296e-05	5.269e-05	5.178e-05	5.42e-05	0.0002	2.574e-05	1.842e-05	9.629e-05	7.008e-05	0.0002	0	0	0	0	0	0	0	0	0	0.314	0.13834	T	0.166	0.30828	T	0.998	0.73220	D	0.588	0.50402	P	.	.	.	.	1	0.08975	N	1.035	0.25616	L	1.55	0.29866	T	-1.89	0.44094	N	0.07	0.08227	-1.0740	0.08556	T	0.075	0.30055	T	9	0.07459533	0.11421	T	0.005667	0.14681	T	0.020	0.03691	.	.	0.0920862733494	0.08535	0.023818780567737338	0.02332	0.127965630687	0.14428	.	.	.	0.026187	0.19430	T	-0.516844	0.00459	T	-0.700752	0.05784	T	0.0278044023908634	0.01659	T	0.20228	0.02325	T	0.0379109	0.04951	0.031820226	0.01825	0.0379109	0.04951	0.031820226	0.01825	-6.024	0.46480	T	.	.	0.265	0.49922	B	.;.;.;.;.	.;.;.;.;.	0.498641	0.08677	5.449	0.97401092545364965	0.33775	0.01896	0.05817	N	AEFGBCI	0.040358	0.05992	N	-1.17492210835473	0.05381	0.2451717	-1.42300022151343	0.03023	0.1402449	0.00145537947931807	0.08551	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	1.97	-3.94	0.03856	-1.842000	0.01775	.	.	-5.762000	0.00007	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2474:0.0:0.17:0.5826	4.097	0.09470	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2344.33	34	chr19	52613160	.	G	A	2344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.612;DP=836;ExcessHet=0;FS=2.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.295;SOR=0.519	GT:AD:DP:GQ:PL	0/1:101,92:193:99:2358,0,2682	18	0	1	0
chr19	52706036	52706036	T	C	exonic	ZNF611	.	nonsynonymous SNV	ZNF611:NM_001161500:exon5:c.A1019G:p.E340G,ZNF611:NM_001161501:exon5:c.A812G:p.E271G,ZNF611:NM_001161499:exon6:c.A1019G:p.E340G,ZNF611:NM_030972:exon7:c.A1019G:p.E340G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0057	0.00539137	0.0017	0.0187	0.0006	0	0	2.999e-05	0	0	0.0015977	247	154602	rs4087790	0.0005	0.0005	0.0006	0.0004	0.0176	0.0005	0.0005	0.0164	0.0160	0.0176	0.0011	0	0	0	0.0009	1.799e-05	0.0010	1.159e-05	0.0049	0.0049	0.0051	0.0047	0.0169	0.0046	0.0045	0.0158	0.0154	0.0169	0	0.0024	0	0	0	0	2.94e-05	0.0033	0	0.0	0.91255	D	0.017	0.60337	D	0.752	0.43309	P	0.561	0.49582	P	.	.	.	.	0.995968	0.23152	N	2.395	0.69210	M	2.08	0.20255	T	-5.56	0.86296	D	0.132	0.13484	-1.0485	0.14818	T	0.046	0.19800	T	9	0.003975421	0.00077	T	.	.	.	0.060	0.17295	.	.	0.501060295512	0.49743	0.014385139974164988	0.01395	0.134211828644	0.15117	0.253722727299	0.04170	T	0.036139	0.23989	T	-0.524525	0.00414	T	-0.511284	0.21183	T	0.139155205949128	0.16202	T	0.10049	0.00746	T	0.1753298	0.38386	0.22448131	0.47361	0.1753298	0.38386	0.22448131	0.47360	-6.898	0.53284	T	.	.	0.113	0.22282	B	.;.;.;.;.;.	.;.;.;.;.;.	2.162928	0.27555	17.50	0.97220792762563935	0.32901	0.24888	0.22532	N	AEFBCI	0.249267	0.36953	N	-0.323688471262654	0.28251	1.556671	-0.587952893062773	0.19806	1.064351	0.0026259405185001	0.09584	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	1.53	1.53	0.22224	3.105000	0.50005	.	.	0.361000	0.20101	0.164000	0.23853	0.000000	0.08366	0.002000	0.04165	0.2686:0.0:0.0:0.7314	4.946	0.13341	923	0.18507	.;Zinc finger C2H2-type;Zinc finger C2H2-type;.;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	3588.33	68	chr19	52706036	.	T	C	3588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.678;DP=1293;ExcessHet=0;FS=4.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=1.37;SOR=0.493	GT:AD:DP:GQ:PL	0/1:136,135:271:99:3602,0,3852	18	0	1	0
chr19	52906302	52906302	A	T	exonic	ZNF888	.	nonsynonymous SNV	ZNF888:NM_001384656:exon3:c.T1912A:p.Y638N,ZNF888:NM_001310127:exon4:c.T2020A:p.Y674N,ZNF888:NM_001384652:exon5:c.T2077A:p.Y693N,ZNF888:NM_001384653:exon5:c.T2020A:p.Y674N,ZNF888:NM_001384655:exon5:c.T1912A:p.Y638N,ZNF888:NM_001384654:exon6:c.T1912A:p.Y638N	.	2	222	2	0	0	2	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs377511797	1.232e-05	1.231e-05	1.635e-05	8.257e-06	0.0002	7.7e-06	6.36e-06	9.757e-05	6.955e-05	0.0002	0	0	0	0	0.0002	0	0.0001	2.325e-05	2.651e-05	2.634e-05	1.296e-05	4.069e-05	7.299e-05	8.19e-06	5.18e-06	1.935e-05	1.036e-05	7.299e-05	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08752164	0.14981	T	.	.	.	.	.	.	.	.	.	0.00316250429346427	0.00295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285671	0.05095	T	0.039784748	0.05556	0.06783965	0.14089	0.039784748	0.05556	0.06783965	0.14088	-0.402	0.00527	T	.	.	0.248	0.48261	B	.	.	-0.753600	0.01202	0.059	0.58321992640919562	0.05967	0.00097	0.00633	N	AEFBI	.	.	.	.	.	.	.	.	.	3.70800120584567E-5	0.03775	0.156188	0.03335	0	0.156173	0.03658	0	0.231514	0.04749	0	0.117559	0.03655	0	0.0492226	0.08869	1.71	-3.41	0.04535	-0.982000	0.03873	.	.	-1.538000	0.00984	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1803:0.1318:0.3503:0.3375	1.030	0.01441	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2641.33	81	chr19	52906302	.	A	T	2641.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.127;DP=1133;ExcessHet=0;FS=2.33;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.069;SOR=0.874	GT:AD:DP:GQ:PL	0/1:118,98:216:99:2655,0,3327	18	0	1	0
chr19	53068496	53068496	T	C	exonic	ZNF160	.	nonsynonymous SNV	ZNF160:NM_001322136:exon5:c.A2038G:p.N680D,ZNF160:NM_001322129:exon6:c.A2038G:p.N680D,ZNF160:NM_001322131:exon6:c.A2038G:p.N680D,ZNF160:NM_001322135:exon6:c.A2038G:p.N680D,ZNF160:NM_033288:exon6:c.A2038G:p.N680D,ZNF160:NM_001102603:exon7:c.A2038G:p.N680D,ZNF160:NM_001322128:exon7:c.A2038G:p.N680D,ZNF160:NM_001322130:exon7:c.A2038G:p.N680D,ZNF160:NM_001322132:exon7:c.A2038G:p.N680D,ZNF160:NM_001322133:exon7:c.A2038G:p.N680D,ZNF160:NM_001322134:exon7:c.A2038G:p.N680D,ZNF160:NM_001322138:exon7:c.A1930G:p.N644D,ZNF160:NM_198893:exon7:c.A2038G:p.N680D,ZNF160:NM_001322137:exon8:c.A1930G:p.N644D,ZNF160:NM_001322139:exon9:c.A1930G:p.N644D	.	366	1154	2	0	0	2	0.000865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00110163782604	0.0023	0.000998403	0.0019	0.0003	0.0006	0	0.0012	0.0026	0.0011	0.0023	0.001934	299	154602	rs45543133	0.0027	0.0027	0.0027	0.0028	0.0031	0.0027	0.0026	0.0031	0.0030	0.0004	0.0004	0.0015	0	0.0010	0.0009	0.0031	0.0027	0.0025	0.0019	0.0019	0.0020	0.0017	0.0033	0.0017	0.0016	0.0029	0.0028	0.0007	0	0.0010	0.0009	0	0.0011	0	0.0033	0	0.0012	0.296	0.14694	T	0.16	0.38891	T	0.833	0.46172	P	0.324	0.41853	B	.	.	.	.	1	0.08975	N	-0.785	0.01646	N	3.2	0.07236	T	-1.57	0.37955	N	0.053	0.03956	-1.0206	0.23519	T	0.005	0.01761	T	9	0.0038520992	0.00073	T	0.001102	0.01312	T	0.053	0.14996	.	.	0.0401082797425	0.02173	0.021800676780242906	0.02132	0.303171864291	0.32638	0.233312427998	0.02222	T	0.028586	0.20673	T	-0.725185	0.00026	T	-0.814599	0.01565	T	0.0213854944749529	0.00841	T	0.158184	0.01407	T	0.063107654	0.13253	0.05745448	0.10448	0.063107654	0.13253	0.05745448	0.10447	-6.208	0.47988	T	.	.	0.139	0.35162	B	.;.;.;.	.;.;.;.	0.540387	0.09088	5.873	0.89422286551266128	0.18783	0.00053	0.00405	N	AEFGBHCI	0.044836	0.07261	N	-1.02932757624558	0.07999	0.3735462	-1.15853613021605	0.06615	0.3190404	0.00111967608817833	0.08239	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.47	0.121	0.13999	-1.482000	0.02426	.	.	0.475000	0.22001	0.000000	0.06391	0.000000	0.08366	0.735000	0.35267	0.3375:0.1286:0.1817:0.3522	0.340	0.00309	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1981.33	142	chr19	53068496	.	T	C	1981.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.092;DP=942;ExcessHet=0;FS=2.664;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-1.244;SOR=0.495	GT:AD:DP:GQ:PL	0/1:98,78:176:99:1995,0,2824	18	0	1	0
chr19	53165697	53165697	T	C	exonic	ZNF665	.	nonsynonymous SNV	ZNF665:NM_001353459:exon4:c.A793G:p.N265D,ZNF665:NM_024733:exon4:c.A793G:p.N265D,ZNF665:NM_001353457:exon5:c.A787G:p.N263D,ZNF665:NM_001353458:exon5:c.A877G:p.N293D	.	383	1138	1	0	0	1	0.000439174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0070	0.00539137	0.0018	0.0209	8.637e-05	0	0	2.997e-05	0	0.0001	0.0017141	265	154602	rs79224520	0.0005	0.0005	0.0005	0.0004	0.0174	0.0005	0.0004	0.0162	0.0157	0.0174	0.0008	0	0	0	0.0005	2.338e-05	0.0010	2.319e-05	0.0050	0.0050	0.0053	0.0047	0.0175	0.0047	0.0046	0.0164	0.0160	0.0175	0	0.0021	0	0	0	0	4.41e-05	0.0024	0	0.24	0.17701	T	0.164	0.31026	T	0.004	0.12183	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	-0.495	0.02627	N	2.38	0.15843	T	-2.56	0.55339	D	0.059	0.05287	-0.9744	0.36257	T	0.009	0.03140	T	9	0.0029756725	0.00048	T	.	.	.	0.039	0.10176	.	.	0.128392430309	0.12331	0.015205824773005841	0.01476	0.0318536855555	0.03304	0.280150294304	0.07513	T	0.049407	0.28298	T	-0.7782	0.00011	T	-0.875011	0.00697	T	0.00729956563191857	0.00084	T	0.0719928	0.00526	T	0.28612664	0.51631	0.23860982	0.49188	0.28612664	0.51630	0.23860982	0.49187	.	.	.	.	.	0.115	0.25166	B	.;.	.;.	1.154671	0.15429	11.84	0.95898492381716982	0.28123	0.00353	0.01817	N	AEFDBHCI	0.071163	0.14156	N	-1.08309207512457	0.06954	0.3216486	-1.0943778836598	0.07810	0.3813942	1.06917366472756E-5	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	2.31	1.24	0.20416	-2.265000	0.01254	.	.	-0.290000	0.06302	0.000000	0.06391	0.000000	0.08366	0.216000	0.22352	0.2114:0.1431:0.2154:0.4301	0.427	0.00433	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	0.001058	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2018.33	140	chr19	53165697	.	T	C	2018.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.662;DP=2239;ExcessHet=0;FS=1.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.85;MQRankSum=0.991;QD=18.18;ReadPosRankSum=0.585;SOR=0.891	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,54:111:99:0|1:53165686_G_T:2032,0,2155:53165686	18	0	1	0
chr19	53259064	53259064	A	-	exonic	VN1R2	.	frameshift deletion	VN1R2:NM_173856:exon1:c.689delA:p.Y230Lfs*36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3574.29	35	chr19	53259063	.	TA	T	3574.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.709;DP=883;ExcessHet=0;FS=2.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.62;ReadPosRankSum=0.56;SOR=0.609	GT:AD:DP:GQ:PL	0/1:86,106:192:99:3588,0,2887	18	0	1	0
chr19	53998287	53998287	G	A	exonic	CACNG6	.	nonsynonymous SNV	CACNG6:NM_145814:exon2:c.G380A:p.R127H,CACNG6:NM_145815:exon2:c.G380A:p.R127H	.	.	.	.	.	.	.	.	.	.	.	2215440	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.024	0.00540006137836	7.7e-05	.	7.44e-05	0	0.0005	0	0	4.511e-05	0	0	7.76e-05	12	154602	rs113933127	3.421e-05	3.42e-05	3.812e-05	3.025e-05	0.0003	2.631e-05	2.375e-05	0.0001	0.0001	0.0003	0.0002	0	0	0	0	2.698e-05	0	1.159e-05	5.256e-05	5.25e-05	5.142e-05	5.375e-05	0.0001	2.557e-05	1.83e-05	4.732e-05	3.049e-05	0.0001	0	6.544e-05	0	0	0	0	2.941e-05	0	0	0.166	0.23183	T	0.528	0.12562	T	0.001	0.07471	B	0.001	0.04355	B	0.297160	0.14663	N	0.633990	1	0.20103	N	1.735	0.44892	L	1.52	0.30669	T	0.47	0.03352	N	0.118	0.20793	-1.0821	0.06946	T	0.035	0.14900	T	10	0.024690866	0.00688	T	0.005	0.13862	T	0.024	0.04979	.	.	0.17258766438	0.16869	0.3994814461888703	0.39863	0.609390119141	0.55673	0.217751145363	0.01184	T	0.021242	0.16575	T	-0.53176	0.00375	T	-0.704054	0.05606	T	0.0226135645061731	0.00978	T	0.748825	0.40277	T	0.026247876	0.01658	0.04861786	0.07258	0.026247876	0.01657	0.04861786	0.07257	-5.128	0.38201	T	.	.	0.067	0.04159	B	.;.	.;.	-0.413192	0.02164	0.211	0.87930942361653985	0.17589	0.00916	0.03571	N	AEFDBI	0.033651	0.04033	N	-1.5302080840591	0.01654	0.072346	-1.54871263411618	0.01985	0.09066822	0.99816564220091	0.36515	0.615465	0.37627	0	0.547309	0.14657	0	0.61531	0.40942	0	0.655142	0.61905	0	.	.	5.36	-6.34	0.01808	-1.156000	0.03270	.	.	-0.641000	0.04447	0.000000	0.06391	0.000000	0.08366	0.238000	0.22948	0.2834:0.0:0.7166:0.0	16.540	0.84230	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	987.33	35	chr19	53998287	.	G	A	987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.72;DP=724;ExcessHet=0;FS=1.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.823;SOR=0.479	GT:AD:DP:GQ:PL	0/1:50,39:89:99:1001,0,1282	18	0	1	0
chr19	54172000	54172002	CCC	-	exonic	TMC4	.	nonframeshift deletion	TMC4:NM_001145303:exon2:c.179_181del:p.G60del,TMC4:NM_144686:exon2:c.161_163del:p.54_55del	.	398	1114	8	1	1	11	0.00446828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0182	0.0227636	0.0136	0.0034	0.0363	0.0970	0.0269	0.0019	0.0133	0.0018	0.0046104	120	26028	rs140898828	0.0052	0.0053	0.0055	0.0049	0.0968	0.0051	0.0051	0.0942	0.0932	0.0029	0.0324	0.0027	0.0968	0.0262	0.0003	0.0003	0.0054	0.0016	0.0086	0.0087	0.0066	0.0108	0.0849	0.0082	0.0081	0.0783	0.0757	0.0031	0	0.0221	0.0017	0.0849	0.0284	0	0.0009	0.0095	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003528	0.000000	0.000000	0.002924	0.000000	0.000000	0.018293	0.003788	0.02632	2120.29	34	chr19	54171999	.	GCCC	G	2120.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.454;DP=745;ExcessHet=0;FS=0.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.09;ReadPosRankSum=-2.028;SOR=0.804	GT:AD:DP:GQ:PL	0/1:42,54:96:99:2134,0,1601	18	0	1	0
chr19	54221344	54221344	-	CGG	exonic	LILRB3	.	nonframeshift insertion	LILRB3:NM_001081450:exon5:c.693_694insCCG:p.G232_A630delinsPGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*,LILRB3:NM_001320960:exon5:c.693_694insCCG:p.G232delinsPG,LILRB3:NM_006864:exon5:c.693_694insCCG:p.S232_L604delinsPSLLTLQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*	.	35	1231	253	3	0	259	0.0951856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0028	0.0001	0.0001	0.0014	0.0001	0.0001	0.0011	0.0009	0.0009	0.0014	8.203e-05	0.0007	8.106e-05	0.0002	7.586e-05	0.0002	7.712e-05	0.0002	0.0038	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0002	0	0.0006	0	0	2.989e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	129.31	59	chr19	54221344	.	C	CCGG	129.31	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.172;DP=1175;ExcessHet=0;FS=63.423;InbreedingCoeff=-0.0284;MLEAC=1;MLEAF=0.026;MQ=31.48;MQRankSum=2.61;QD=1.49;ReadPosRankSum=-0.947;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,9:87:99:0|1:54221256_T_C:143,0,3248:54221256	18	0	1	0
chr19	54274798	54274798	G	A	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon13:c.C1334T:p.T445I,LILRB2:NM_001080978:exon14:c.C1679T:p.T560I,LILRB2:NM_001278403:exon14:c.C1679T:p.T560I,LILRB2:NM_005874:exon14:c.C1682T:p.T561I	.	10	1511	1	0	0	1	0.000330797	.	.	.	2193765	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.00471035166838	0.0005	0.000199681	9.885e-05	0.0011	8.637e-05	0	0	0	0	0	9.7e-05	15	154602	rs111579555	5.473e-05	5.472e-05	6.534e-05	4.4e-05	0.0013	4.477e-05	4.147e-05	0.0010	0.0008	0.0013	2.236e-05	0	0	0	0	0	0.0006	1.159e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0006	0	0	0	0	0	0	0	0.0005	0	0.064	0.38185	T	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	6.28	0.00561	T	-3.05	0.65171	D	0.285	0.39254	-0.9821	0.34515	T	0.003	0.01026	T	9	0.056836396	0.06434	T	0.00471	0.11722	T	0.138	0.37187	.	.	0.339316883193	0.33537	0.2502560241872246	0.24939	0.0541991921509	0.05990	0.576643645763	0.49613	T	.	.	.	-0.471694	0.00829	T	-0.50668	0.21657	T	0.0550931821369486	0.06373	T	0.776822	0.40920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.50481	B	.;.;.;.	.;.;.;.	2.334774	0.29912	18.27	0.9711247467198364	0.32417	0.49752	0.28505	N	AEFBI	0.173827	0.30092	N	-0.33866266530532	0.27691	1.521322	-0.391209350245484	0.25258	1.387943	0.226338654326415	0.18414	0.615755	0.39536	0	0.610034	0.51514	0	0.618376	0.41669	0	0.542086	0.14980	0	.	.	1.31	1.31	0.20837	3.334000	0.51814	.	.	0.601000	0.45875	0.321000	0.25511	0.290000	0.24159	0.255000	0.23391	0.0:0.0:1.0:0.0	6.172	0.19638	994	0.00715	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000529	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1835.33	33	chr19	54274798	.	G	A	1835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.86;DP=764;ExcessHet=0;FS=1.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.91;MQRankSum=-0.965;QD=15.42;ReadPosRankSum=-0.94;SOR=0.52	GT:AD:DP:GQ:PL	0/1:51,68:119:99:1849,0,1369	18	0	1	0
chr19	54277919	54277919	G	A	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon7:c.C931T:p.P311S,LILRB2:NM_001278405:exon7:c.C1279T:p.P427S,LILRB2:NM_001278406:exon7:c.C1279T:p.P427S,LILRB2:NM_001080978:exon8:c.C1279T:p.P427S,LILRB2:NM_001278403:exon8:c.C1279T:p.P427S,LILRB2:NM_005874:exon8:c.C1279T:p.P427S	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0016	0.00239617	0.0015	0.0101	0	0	0	0.0001	0	0	0.0004075	63	154602	rs148321423	0.0003	0.0003	0.0003	0.0002	0.0063	0.0002	0.0002	0.0055	0.0053	0.0063	0.0005	0	0	0.0002	0.0005	8.942e-05	0.0009	2.57e-05	0.0019	0.0019	0.0018	0.0019	0.0063	0.0017	0.0016	0.0056	0.0054	0.0063	0	0.0006	0	0	9.407e-05	0	0.0001	0.0014	0	0.498	0.07797	T	0.193	0.30926	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	7.09	0.00460	T	-1.52	0.38924	N	0.175	0.19459	-0.9670	0.37814	T	0.001	0.00222	T	9	0.0036373734	0.00066	T	.	.	.	0.015	0.02232	.	.	0.104622674875	0.10061	0.10683828809185875	0.10613	0.0456341534263	0.04953	0.264221608639	0.05404	T	.	.	.	-0.660261	0.00063	T	-0.715646	0.05009	T	0.00258418771117385	0.00027	T	0.540746	0.18332	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.02960	B	.;.;.;.;.	.;.;.;.;.	-0.697642	0.01326	0.073	0.50950757218013176	0.04475	0.00200	0.01150	N	AEFDBI	0.039096	0.05631	N	-2.22959982801494	0.00066	0.002815392	-2.30280245182774	0.00065	0.002872331	0.999971029731205	0.50053	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.33	-4.66	0.03090	-1.340000	0.02756	.	.	-2.803000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6203:0.0:0.2089:0.1708	4.700	0.12206	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000562	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	1320.33	42	chr19	54277919	.	G	A	1320.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.656;SOR=0.729	GT:AD:DP:GQ:PL	0/1:50,51:101:99:1334,0,1231	18	0	1	0
chr19	54463304	54463304	G	A	exonic	LENG9	.	nonsynonymous SNV	LENG9:NM_001301782:exon1:c.C223T:p.R75C,LENG9:NM_198988:exon1:c.C289T:p.R97C	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	0.0001	0.00499201	0.0117	0.0026	0.0143	0	0	0.0025	0	0.0167	0.0015977	247	154602	rs373060387	0.0014	0.0014	0.0009	0.0019	0.0177	0.0013	0.0013	0.0169	0.0166	0	0.0010	0.0037	2.832e-05	0	0.0023	0.0003	0.0017	0.0177	0.0012	0.0011	0.0009	0.0015	0.0215	0.0010	0.0010	0.0182	0.0169	0.0004	0	0.0010	0.0043	0	0	0.0034	0.0003	0.0009	0.0215	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	0.095300	0.20131	U	0.483160	0.938785	0.37238	D	.	.	.	.	.	.	.	.	.	0.432	0.47115	-0.9994	0.30087	T	0.089	0.34243	T	10	0.008618861	0.00195	T	.	.	.	.	.	.	.	0.307332253619	0.30352	0.5991197196724157	0.59842	.	.	0.89994341135	0.96435	D	0.336677	0.70616	T	-0.335093	0.05735	T	-0.24114	0.50686	T	0.0886082979198304	0.11052	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.38480	B	.	.	4.461078	0.69433	25.4	0.99406286846987768	0.63075	0.44479	0.27327	N	ALL	0.247735	0.36826	N	-0.406836011066306	0.25230	1.368023	-0.467280422334379	0.23061	1.255693	0.999999999996529	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	3.31	1.04	0.19220	2.017000	0.40600	.	.	-0.406000	0.05278	1.000000	0.71638	1.000000	0.68203	0.014000	0.10232	0.1142:0.1867:0.6991:0.0	6.438	0.21037	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	0.005371	0.000000	0.001408	0.000000	0.000000	0.009434	0.006711	0.020000	0.02632	352.33	37	chr19	54463304	.	G	A	352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=708;ExcessHet=0;FS=3.674;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.515;SOR=1.565	GT:AD:DP:GQ:PL	0/1:14,12:26:99:366,0,363	18	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,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	14224.2	453	chr19	54739533	.	C	A	14224.2	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-1.789;DP=6357;ExcessHet=8.9063;FS=2.315;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=54.78;MQRankSum=1.23;QD=2.68;ReadPosRankSum=1.17;SOR=0.487	GT:AD:DP:GQ:PL	0/1:440,109:549:99:1532,0,12932	8	0	11	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	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.3158	19383.8	304	chr19	54752378	.	A	T	19383.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-4.229;DP=4495;ExcessHet=0.145;FS=0;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=54.4;MQRankSum=-17.09;QD=8.05;ReadPosRankSum=0.964;SOR=0.712	GT:AD:DP:GQ:PL	0/1:230,143:373:99:3033,0,6548	10	3	6	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	23283.8	396	chr19	54752434	.	G	C	23283.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-2.516;DP=4967;ExcessHet=0.145;FS=7.788;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.43;MQRankSum=-19.66;QD=8.2;ReadPosRankSum=2.5;SOR=0.941	GT:AD:DP:GQ:PL	0/1:298,145:443:99:3846,0,8006	10	3	6	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	30704.8	410	chr19	54752445	.	C	T	30704.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.489;DP=4987;ExcessHet=0.145;FS=10.496;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.62;MQRankSum=-20.04;QD=10.61;ReadPosRankSum=0.499;SOR=1.215	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:310,144:454:99:0|1:54752445_C_T:5085,0,12368:54752445	10	3	6	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	18559.8	408	chr19	54752485	.	T	C	18559.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.51;DP=3383;ExcessHet=0.145;FS=30.574;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=56;MQRankSum=-19.62;QD=6.83;ReadPosRankSum=-2.781;SOR=2.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:311,90:401:99:0|1:54752482_T_C:2823,0,12699:54752482	10	3	6	0
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K	.	471	887	74	90	0	254	0.125247	.	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	9081.15	373	chr19	54752511	.	G	A	9081.15	.	AC=11;AF=0.289;AN=38;BaseQRankSum=6.55;DP=3015;ExcessHet=0.0524;FS=46.673;InbreedingCoeff=0.3603;MLEAC=11;MLEAF=0.289;MQ=57.02;MQRankSum=-18.05;QD=4.49;ReadPosRankSum=-0.35;SOR=4.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:284,54:338:99:0|1:54752511_G_A:1413,0,11652:54752511	11	3	5	0
chr19	54758607	54758607	G	C	splicing	LOC112267881	NM_001368251:exon3:c.71-1G>C	.	.	.	431	1048	34	9	0	52	0.0242086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.000401	62	154602	rs200443054	0.0058	0.0060	0.0052	0.0065	0.0206	0.0057	0.0057	0.0198	0.0194	0.0006	0.0021	0.0011	0	0.0009	0.0173	0.0055	0.0070	0.0206	0.0036	0.0036	0.0035	0.0037	0.0187	0.0033	0.0032	0.0155	0.0144	0.0007	0	0.0029	0.0009	0.0006	0.0005	0.0174	0.0051	0.0069	0.0187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4512.83	155	chr19	54758607	.	G	C	4512.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.316;DP=1668;ExcessHet=0.119;FS=16.662;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=37.38;MQRankSum=5.86;QD=16.84;ReadPosRankSum=-0.176;SOR=1.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,71:174:99:.:.:1913,0,3289:.	17	0	2	0
chr19	54758647	54758647	C	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	439	1079	3	1	0	5	0.0023116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0001682	26	154602	rs560926190	0.0030	0.0068	0.0030	0.0029	0.0037	0.0029	0.0029	0.0034	0.0032	0.0010	0.0008	0.0008	0.0002	0.0051	0.0016	0.0032	0.0025	0.0037	0.0032	0.0094	0.0029	0.0034	0.0046	0.0029	0.0028	0.0033	0.0031	0.0019	0	0.0025	0.0027	0.0010	0.0065	0	0.0037	0.0043	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3143.33	155	chr19	54758647	.	C	G	3143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.786;DP=2028;ExcessHet=0;FS=8.575;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.6;MQRankSum=-2.86;QD=13.49;ReadPosRankSum=-0.311;SOR=1.193	GT:AD:DP:GQ:PL	0/1:108,125:233:99:3157,0,2848	18	0	1	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	5632.82	409	chr19	54760643	.	A	G	5632.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.964;DP=3070;ExcessHet=5.3738;FS=0.841;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=53.21;MQRankSum=-7.788;QD=2.22;ReadPosRankSum=-1.6;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:319,38:357:99:0|1:54760643_A_G:636,0,13016:54760643	10	0	9	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	6909.82	427	chr19	54760651	.	G	C	6909.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.367;DP=3110;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=53.71;MQRankSum=-7.967;QD=2.66;ReadPosRankSum=-0.854;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:315,40:355:99:0|1:54760643_A_G:731,0,13094:54760643	10	0	9	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	8391.82	417	chr19	54760665	.	T	C	8391.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.929;DP=3064;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=54.49;MQRankSum=-8.924;QD=3.29;ReadPosRankSum=1.29;SOR=0.63	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:299,41:340:99:0|1:54760643_A_G:822,0,12432:54760643	10	0	9	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	8694.82	404	chr19	54760676	.	T	A	8694.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.677;DP=2989;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.24;MQRankSum=-9.527;QD=3.5;ReadPosRankSum=2.82;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:292,41:333:99:0|1:54760643_A_G:843,0,12138:54760643	10	0	9	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	9144.82	392	chr19	54760692	.	A	G	9144.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.194;DP=2791;ExcessHet=5.3738;FS=0.76;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.94;MQRankSum=-10.82;QD=3.87;ReadPosRankSum=3.07;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:275,41:316:99:0|1:54760643_A_G:894,0,11424:54760643	10	0	9	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	9240.82	386	chr19	54760695	.	T	C	9240.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.033;DP=2772;ExcessHet=5.3738;FS=0.76;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.99;MQRankSum=-11.04;QD=3.96;ReadPosRankSum=3.13;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:270,41:311:99:0|1:54760643_A_G:909,0,11214:54760643	10	0	9	0
chr19	54769866	54769866	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon1:c.G16A:p.V6I,KIR2DL1:NM_014218:exon1:c.G16A:p.V6I	.	423	1018	81	0	0	81	0.0382617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0082991101408	.	.	4.241e-05	0.0002	8.884e-05	0	0	3.095e-05	0	0	0.0005692	88	154602	rs375195215	0.0002	0.0019	0.0002	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0006	0.0009	0.0007	2.545e-05	0.0004	0.0002	0.0002	0.0002	0.0004	0.0005	0.0063	0.0005	0.0005	0.0011	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0004	0	0	0.0005	0	0.0003	0	0.0010	0.112	0.30235	T	0.681	0.10245	T	0.013	0.16609	B	0.009	0.14300	B	.	.	.	.	0.999974	0.81001	N	.	.	.	7.18	0.00438	T	-0.52	0.16393	N	0.078	0.05287	-0.9611	0.38974	T	0.001	0.00287	T	8	0.042778373	0.03059	T	0.008299	0.21979	T	0.017	0.02790	.	.	0.163833314356	0.15978	0.07523266231580931	0.07459	0.258293071172	0.28385	0.446146994829	0.31418	T	0.011846	0.10509	T	-0.454054	0.01069	T	-0.653325	0.08723	T	0.0061362524239717	0.00068	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.15564	B	.;.	.;.	0.228841	0.06102	2.548	0.76514937681009665	0.11499	0.00123	0.00769	N	AEFBI	0.020265	0.00784	N	-1.40368950837253	0.02606	0.1153194	-1.52506351735761	0.02152	0.098572	2.19688426057424E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	0.514	-1.03	0.09586	0.333000	0.19512	.	.	-1.352000	0.01191	0.021000	0.19753	0.000000	0.08366	0.002000	0.04165	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	820.92	254	chr19	54769866	.	G	A	820.92	.	AC=3;AF=0.083;AN=36;BaseQRankSum=4.87;DP=3217;ExcessHet=0.3672;FS=5.699;InbreedingCoeff=-0.1016;MLEAC=3;MLEAF=0.083;MQ=55.49;MQRankSum=-5.542;QD=1.04;ReadPosRankSum=-4.121;SOR=1.449	GT:AD:DP:GQ:PL	0/1:322,36:358:99:129,0,12456	15	0	3	1
chr19	54773464	54773464	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G202C:p.D68H,KIR2DL1:NM_014218:exon3:c.G202C:p.D68H,KIR2DS1:NM_014512:exon3:c.G202C:p.D68H,KIR2DS5:NM_014513:exon3:c.G202C:p.D68H	.	425	856	241	0	0	241	0.1234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000804883088689	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745536485	6.26e-06	0.0002	5.539e-06	6.987e-06	2.264e-05	2.95e-06	2.13e-06	3.15e-06	2.28e-06	0	2.264e-05	0	0	0	0	7.325e-06	0	0	0.0001	0.0024	0.0001	0.0001	0.0004	7.39e-05	6.091e-05	8.225e-05	5.802e-05	0.0002	0	0.0002	0	0	0	0	7.634e-05	0	0.0004	0.064	0.38407	T	0.247	0.23914	T	0.444	0.35956	B	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-2.52	0.54702	D	0.188	0.25130	-1.0056	0.28277	T	0.041	0.17657	T	9	0.1068652	0.19824	T	8.05E-4	0.00629	T	0.038	0.09825	0.276	0.22845	0.283761946502	0.27984	0.08192545392014942	0.08127	0.476618817085	0.46789	0.428809553385	0.29046	T	0.010046	0.09105	T	-0.210968	0.19242	T	-0.540818	0.18217	T	0.0742162314790902	0.09230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.29833	B	.;.	.;.	0.494158	0.08635	5.403	0.86631705629094091	0.16667	0.00709	0.03002	N	AEFDBI	0.050506	0.08834	N	-0.947669841844548	0.09745	0.4625647	-1.15399594513377	0.06696	0.3231991	1.94292267281438E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	-1.93	0.07180	-0.459000	0.06805	.	.	-0.401000	0.05297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2328:0.3114:0.4559:0.0	2.604	0.04579	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	11554.4	606	chr19	54773464	.	G	C	11554.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=4.09;DP=5593;ExcessHet=1.3;FS=3.783;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=57.56;MQRankSum=-17.89;QD=3.48;ReadPosRankSum=-1.139;SOR=1.211	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:608,75:683:99:.:.:1216,0,24183:.	14	0	5	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G,KIR2DL1:NM_014218:exon3:c.C248G:p.A83G,KIR2DS1:NM_014512:exon3:c.C248G:p.A83G,KIR2DS5:NM_014513:exon3:c.C248G:p.A83G	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	19496.4	634	chr19	54773510	.	C	G	19496.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.64;DP=6108;ExcessHet=1.3;FS=2.296;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=57.51;MQRankSum=-21.25;QD=5.16;ReadPosRankSum=3.43;SOR=0.964	GT:AD:DP:GQ:PL	0/1:637,120:757:99:3102,0,20036	14	0	5	0
chr19	54775425	54775425	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A631G:p.K211E,KIR2DL1:NM_014218:exon4:c.A631G:p.K211E,KIR2DS1:NM_014512:exon4:c.A631G:p.K211E,KIR2DS5:NM_014513:exon4:c.A631G:p.K211E	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.000592734597817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160831907	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.554	0.09298	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	5.87	0.00635	T	1.39	0.00857	N	0.07	0.05037	-0.8467	0.52195	T	0.002	0.00615	T	9	0.028063536	0.00943	T	5.93E-4	0.00260	T	0.059	0.16972	0.323	0.30387	0.16115917748	0.15686	0.029241745084215797	0.02873	2.21200435668	0.95776	0.31968459487	0.13373	T	4.12E-4	0.00135	T	-0.28523	0.10121	T	-0.647489	0.09131	T	0.0937598886220576	0.11657	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.11414	B	.;.	.;.	0.318454	0.06933	3.475	0.20862290473268763	0.00769	0.00019	0.00214	N	AEFBI	0.018778	0.00597	N	-2.32359019538145	0.00040	0.001725136	-2.43884286613337	0.00032	0.001406827	0.936798265882266	0.27269	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-0.210000	0.09349	.	.	-1.332000	0.01214	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.1649:0.2413:0.4377:0.1561	2.064	0.03380	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	1122.37	409	chr19	54775425	.	A	G	1122.37	.	AC=7;AF=0.184;AN=38;BaseQRankSum=2.74;DP=4083;ExcessHet=2.9153;FS=2.32;InbreedingCoeff=-0.2257;MLEAC=7;MLEAF=0.184;MQ=56.45;MQRankSum=-10.79;QD=0.37;ReadPosRankSum=1.18;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:563,42:605:69:0|1:54775425_A_G:69,0,23514:54775425	12	0	7	0
chr19	54775427	54775427	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G633C:p.K211N,KIR2DL1:NM_014218:exon4:c.G633C:p.K211N,KIR2DS1:NM_014512:exon4:c.G633C:p.K211N,KIR2DS5:NM_014513:exon4:c.G633C:p.K211N	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.001147116708	.	.	8.585e-06	0.0001	0	0	0	0	0	0	.	.	.	rs753170536	2.16e-05	0.0002	1.941e-05	2.38e-05	4.687e-05	1.548e-05	1.349e-05	1.594e-05	1.051e-05	3.01e-05	4.543e-05	0	0	1.904e-05	0	1.927e-05	3.37e-05	4.687e-05	3.365e-05	0.0001	5.26e-05	1.378e-05	9.802e-05	1.284e-05	8.15e-06	3.284e-05	1.938e-05	9.802e-05	0	0	0	0	0	0	1.511e-05	0	0	1.0	0.00964	T	0.573	0.08715	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	1.38	0.00857	N	0.059	0.04426	-0.9366	0.43149	T	0.001	0.00378	T	9	0.023357421	0.00609	T	0.001147	0.01434	T	0.014	0.01968	0.35	0.34760	0.12205267543	0.11705	0.03264276369458457	0.03212	1.93871876743	0.93220	0.327257335186	0.14520	T	0.001399	0.00865	T	-0.474619	0.00796	T	-0.734262	0.04137	T	0.0274483388068723	0.01609	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.08754	B	.;.	.;.	0.327897	0.07020	3.580	0.21825878329223575	0.00850	0.00013	0.00170	N	AEFBI	0.013717	0.00192	N	-1.7759001691404	0.00606	0.0261499	-1.79421127190689	0.00778	0.03469607	1.85822177357133E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-6.75E-4	0.13359	-0.508000	0.06426	.	.	-1.225000	0.01333	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4246:0.3291:0.2463	2.428	0.04193	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	1442.34	413	chr19	54775427	.	G	C	1442.34	.	AC=7;AF=0.184;AN=38;BaseQRankSum=3.12;DP=4083;ExcessHet=2.9153;FS=3.718;InbreedingCoeff=-0.225;MLEAC=7;MLEAF=0.184;MQ=56.44;MQRankSum=-10.89;QD=0.48;ReadPosRankSum=1.32;SOR=0.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:564,45:609:99:0|1:54775425_A_G:172,0,23516:54775425	12	0	7	0
chr19	54775428	54775428	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T634C:p.S212P,KIR2DL1:NM_014218:exon4:c.T634C:p.S212P,KIR2DS1:NM_014512:exon4:c.T634C:p.S212P,KIR2DS5:NM_014513:exon4:c.T634C:p.S212P	.	426	994	102	0	0	102	0.0488038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00119730649929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219946054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.04643	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.92	0.00621	T	4.32	0.00042	N	0.054	0.03841	-0.9543	0.40221	T	0.001	0.00318	T	9	0.048239112	0.04248	T	0.001197	0.01558	T	0.041	0.10877	0.381	0.39807	0.124217242631	0.12060	0.09862332896415132	0.09793	3.5385108973	0.99787	0.337671220303	0.16090	T	0.020959	0.16408	T	-0.296781	0.08966	T	-0.664082	0.07993	T	0.037209109262974	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00234	B	.;.	.;.	-0.377649	0.02298	0.242	0.20061086774987852	0.00705	0.00014	0.00181	N	AEFBI	0.017768	0.00489	N	-2.16889315936069	0.00090	0.003848594	-2.13850442775353	0.00153	0.006750525	1.85327816143771E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0517	0.13155	0.152000	0.16120	.	.	-2.805000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7488:0.0:0.2512	5.420	0.15691	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	1708.36	412	chr19	54775428	.	T	C	1708.36	.	AC=7;AF=0.184;AN=38;BaseQRankSum=3.35;DP=4107;ExcessHet=2.9153;FS=3.727;InbreedingCoeff=-0.2254;MLEAC=7;MLEAF=0.184;MQ=56.44;MQRankSum=-11;QD=0.57;ReadPosRankSum=0.807;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:566,47:613:99:0|1:54775425_A_G:236,0,23578:54775425	12	0	7	0
chr19	54804844	54804844	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A128G:p.Q43R,KIR2DL4:NM_001080772:exon3:c.A128G:p.Q43R	.	401	1030	89	2	0	93	0.0431955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00113660302036	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs867586202	1.369e-06	2.737e-06	0	2.752e-06	2.995e-05	2.3e-07	9e-08	.	.	2.995e-05	0	0	0	0	0	0	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.23997	T	0.596	0.08052	T	0.005	0.12996	B	0.004	0.14941	B	0.135009	0.02839	U	2.391850	1	0.08975	N	0.575	0.15311	N	2.65	0.12676	T	-1.42	0.38540	N	0.098	0.10769	-1.0000	0.29917	T	0.021	0.08778	T	10	0.07379338	0.11196	T	0.001137	0.01410	T	0.004	0.00165	.	.	0.117191471859	0.11215	0.2764269249833639	0.27555	1.63837144597	0.89330	.	.	.	.	.	.	-0.375957	0.03303	T	-0.777812	0.02520	T	0.0943192406486319	0.11720	T	.	.	.	.	.	.	.	.	.	.	.	-6.927	0.54645	T	.	.	0.067	0.04002	B	.;.;.;.	.;.;.;.	-1.101816	0.00638	0.017	0.44240031913180755	0.03387	0.00284	0.01530	N	AEFDBI	0.054807	0.09996	N	-1.5917883983119	0.01306	0.05686907	-1.68956066485271	0.01184	0.05329264	2.77527207762171E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.14	-1.57	0.08055	-2.911000	0.00765	.	.	-4.062000	0.00044	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.404:0.3002:0.0:0.2958	2.076	0.03404	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	294.31	34	chr19	54804844	.	A	G	294.31	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.974;DP=1156;ExcessHet=0.119;FS=7.723;InbreedingCoeff=-0.048;MLEAC=1;MLEAF=0.026;MQ=58.99;MQRankSum=-12.63;QD=0.78;ReadPosRankSum=-1.338;SOR=1.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,19:182:99:0|1:54804844_A_G:307,0,6738:54804844	17	0	2	0
chr19	54804865	54804865	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G149T:p.R50L,KIR2DL4:NM_001080772:exon3:c.G149T:p.R50L	.	399	1022	98	3	0	104	0.0484171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0010606096064	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs377230503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.578e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.099	0.43344	T	0.001	0.17573	B	0.009	0.25828	B	0.006549	0.01130	U	4.963860	1	0.08975	N	0.87	0.21467	L	2.62	0.12988	T	-3.67	0.70553	D	0.243	0.32259	-0.9992	0.30143	T	0.029	0.12453	T	10	0.2224595	0.38999	T	0.001061	0.01215	T	0.028	0.06331	.	.	0.110392049598	0.10638	0.28005680441547837	0.27918	1.86795582778	0.92482	.	.	.	.	.	.	-0.326378	0.06390	T	-0.706596	0.05473	T	0.0639145414373501	0.07769	T	.	.	.	.	.	.	.	.	.	.	.	-8.044	0.61370	D	.	.	0.138	0.32756	B	.;.;.;.	.;.;.;.	0.035535	0.04534	1.227	0.73877348709050461	0.10488	0.00388	0.01954	N	AEFDBI	0.065265	0.12721	N	-1.54790257383302	0.01547	0.06756762	-1.67935926748713	0.01231	0.05548239	8.43516041031511E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.41	-2.81	0.05459	-0.685000	0.05269	.	.	-3.641000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6012:0.0:0.3988:0.0	5.745	0.17382	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	309.6	34	chr19	54804865	.	G	T	309.6	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.98;DP=1250;ExcessHet=0.3672;FS=13.344;InbreedingCoeff=-0.0755;MLEAC=2;MLEAF=0.053;MQ=58.93;MQRankSum=-13.59;QD=0.46;ReadPosRankSum=1.96;SOR=2.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,21:208:99:0|1:54804844_A_G:319,0,7789:54804844	16	0	3	0
chr19	54804871	54804871	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A155G:p.H52R,KIR2DL4:NM_001080772:exon3:c.A155G:p.H52R	.	410	1016	93	3	0	99	0.0464571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.000703869014878	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752329065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.992	0.03949	T	0.621	0.07419	T	0.003	0.12996	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.17	0.09006	N	2.75	0.11622	T	-3.37	0.67477	D	0.076	0.06059	-0.9219	0.45293	T	0.011	0.04321	T	9	0.061050594	0.07594	T	7.04E-4	0.00435	T	0.050	0.13987	.	.	0.305252298933	0.30134	0.14574877287000448	0.14497	1.80914359211	0.91782	.	.	.	.	.	.	-0.282495	0.10405	T	-0.643561	0.09412	T	0.0325404564850766	0.02395	T	.	.	.	.	.	.	.	.	.	.	.	-6.886	0.53196	T	.	.	0.100	0.18746	B	.;.;.;.	.;.;.;.	0.039253	0.04558	1.245	0.55635480641941515	0.05383	0.00516	0.02410	N	AEFDBI	0.041908	0.06434	N	-1.27066159650474	0.04033	0.1813008	-1.2984096394167	0.04452	0.2100502	3.65028250344946E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.504000	0.06456	.	.	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	4.935	0.13288	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	282.3	34	chr19	54804871	.	A	G	282.3	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.557;DP=1266;ExcessHet=0.119;FS=13.375;InbreedingCoeff=-0.0475;MLEAC=1;MLEAF=0.026;MQ=58.96;MQRankSum=-13.86;QD=0.64;ReadPosRankSum=2.85;SOR=2.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,21:216:99:0|1:54804844_A_G:295,0,8125:54804844	17	0	2	0
chr19	54804880	54804880	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G164T:p.R55L,KIR2DL4:NM_001080772:exon3:c.G164T:p.R55L	.	409	1018	92	3	0	98	0.0459231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000590234751616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200970576	6.845e-07	2.052e-06	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.707	0.14075	T	0.0	0.02946	B	0.003	0.08700	B	0.330964	0.04130	N	1.871750	1	0.08975	N	-0.59	0.02258	N	2.55	0.13795	T	-5.64	0.86914	D	0.096	0.07673	-0.9120	0.46607	T	0.001	0.00408	T	10	0.036497056	0.01952	T	5.9E-4	0.00260	T	0.011	0.01250	.	.	0.043077524339	0.03247	0.18736213989536712	0.18654	1.8200784132	0.91936	.	.	.	.	.	.	-0.317922	0.07070	T	-0.69445	0.06134	T	0.176434934139252	0.19007	T	.	.	.	.	.	.	.	.	.	.	.	-3.794	0.20715	T	.	.	0.105	0.22391	B	.;.;.;.	.;.;.;.	-2.096588	0.00081	0.001	0.52377389892480175	0.04736	0.00034	0.00302	N	AEFDBI	0.026426	0.01982	N	-2.4206702032517	0.00024	0.001049992	-2.48006166947468	0.00026	0.001135847	0.181087630750471	0.17872	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-4.363000	0.00281	.	.	-4.734000	0.00021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3206:0.1414:0.3286:0.2094	0.680	0.00818	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	253.83	34	chr19	54804880	.	G	T	253.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.06;DP=1855;ExcessHet=0.119;FS=15.691;InbreedingCoeff=-0.0552;MLEAC=2;MLEAF=0.053;MQ=58.82;MQRankSum=-14.28;QD=0.55;ReadPosRankSum=3.92;SOR=2.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,21:229:99:0|1:54804844_A_G:256,0,8671:54804844	17	0	2	0
chr19	54804889	54804889	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A173C:p.N58T,KIR2DL4:NM_001080772:exon3:c.A173C:p.N58T	.	410	1009	100	3	0	106	0.0499058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00160012747995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252008475	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.28	0.17643	T	0.421	0.18395	T	0.0	0.02946	B	0.004	0.10090	B	0.568075	0.11267	U	0.710467	1	0.08975	N	1.085	0.27262	L	2.81	0.10975	T	-1.31	0.33798	N	0.161	0.16864	-0.9669	0.37834	T	0.015	0.06090	T	10	0.07299557	0.10970	T	0.002	0.02574	T	0.083	0.24192	.	.	0.168254554758	0.16434	0.1070846243563384	0.10638	1.5630790888	0.88064	.	.	.	.	.	.	-0.408466	0.02035	T	-0.824509	0.01363	T	0.146632224321365	0.16832	T	.	.	.	.	.	.	.	.	.	.	.	-6.799	0.52552	T	.	.	0.159	0.35849	B	.;.;.;.	.;.;.;.	-0.436821	0.02079	0.193	0.48969850087904854	0.04130	0.00254	0.01397	N	AEFDBI	0.042854	0.06702	N	-1.61109278381861	0.01210	0.05261721	-1.73396012362405	0.00995	0.04459112	9.2797908283636E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.660000	0.02075	.	.	-3.494000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3389:0.242:0.1805:0.2386	0.111	0.00052	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	267.83	34	chr19	54804889	.	A	C	267.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.99;DP=1915;ExcessHet=0.119;FS=15.664;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.91;MQRankSum=-14.59;QD=0.55;ReadPosRankSum=3.3;SOR=2.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,21:239:99:0|1:54804844_A_G:226,0,9091:54804844	17	0	2	0
chr19	54804898	54804898	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C182G:p.T61R,KIR2DL4:NM_001080772:exon3:c.C182G:p.T61R	.	407	1007	105	3	0	111	0.0522353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.000577800184532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347429978	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.156	0.30235	T	0.417	0.14241	T	0.008	0.14655	B	0.014	0.16862	B	0.370126	0.04357	N	1.761550	1	0.08975	N	0.19	0.09125	N	2.61	0.13095	T	-0.99	0.33798	N	0.166	0.17553	-1.0466	0.15361	T	0.034	0.14726	T	10	0.06646973	0.09122	T	5.78E-4	0.00246	T	0.004	0.00165	.	.	0.123314135267	0.11883	0.2663305671272793	0.26546	1.74321032565	0.90897	.	.	.	.	.	.	-0.374164	0.03389	T	-0.775237	0.02600	T	0.172755304063972	0.18765	T	.	.	.	.	.	.	.	.	.	.	.	-4.633	0.32583	T	.	.	0.133	0.28807	B	.;.;.;.	.;.;.;.	-1.551279	0.00265	0.004	0.59469541163751893	0.06232	0.00075	0.00520	N	AEFDBI	0.026301	0.01950	N	-1.68316153543223	0.00903	0.03908699	-1.84995237698743	0.00612	0.0271986	3.44450744240821E-4	0.06626	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-5.169000	0.00171	.	.	-4.106000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2563:0.3734:0.3703:0.0	4.699	0.12201	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	392.83	34	chr19	54804898	.	C	G	392.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.04;DP=1941;ExcessHet=0.119;FS=15.947;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.86;MQRankSum=-14.93;QD=0.78;ReadPosRankSum=2.77;SOR=2.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:227,22:249:99:0|1:54804844_A_G:240,0,9465:54804844	17	0	2	0
chr19	54804909	54804909	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A193G:p.K65E,KIR2DL4:NM_001080772:exon3:c.A193G:p.K65E	.	408	993	118	3	0	124	0.0587678	.	.	.	2687379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.000710582739585	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433721372	2.738e-06	4.105e-06	0	5.504e-06	2.237e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	2.237e-05	3.843e-05	0	0	0	1.799e-06	0	0	1.988e-05	4.605e-05	1.295e-05	2.717e-05	0.0001	5.29e-06	2.47e-06	2.279e-05	9.14e-06	0	0	0.0001	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.812499	0.09241	N	0.855387	1	0.08975	N	-2.415	0.00072	N	6.0	0.00603	T	1.89	0.00694	N	0.066	0.07262	-0.9319	0.43859	T	0.001	0.00188	T	10	0.020792723	0.00485	T	7.11E-4	0.00454	T	0.028	0.06331	.	.	0.102598925029	0.09809	0.08210962773506171	0.08145	2.0043789819	0.93871	.	.	.	.	.	.	-0.398459	0.02370	T	-0.810135	0.01662	T	0.0787104400289306	0.09821	T	.	.	.	.	.	.	.	.	.	.	.	1.118	0.00118	T	.	.	0.052	0.01449	B	.;.;.;.	.;.;.;.	-0.896903	0.00931	0.035	0.38092024155450582	0.02549	0.00009	0.00143	N	AEFBI	0.020365	0.00798	N	-1.95943119732616	0.00258	0.01107597	-1.91051840260318	0.00467	0.02066344	2.13546506143977E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.41	0.08473	0.022000	0.13402	.	.	-1.236000	0.01320	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.4688:0.0:0.5312:0.0	3.979	0.08979	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.07895	831.79	34	chr19	54804909	.	A	G	831.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.545;DP=1959;ExcessHet=0.3672;FS=14.196;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=58.65;MQRankSum=-15.14;QD=1.03;ReadPosRankSum=1.57;SOR=2.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,25:253:99:0|1:54804844_A_G:363,0,9498:54804844	16	0	3	0
chr19	54804943	54804943	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G227A:p.R76K,KIR2DL4:NM_001080772:exon3:c.G227A:p.R76K	.	415	972	132	3	0	138	0.0662824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000742101611331	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1258790404	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.948e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.706	0.15201	T	0.895	0.03223	T	0.0	0.02946	B	0.001	0.08700	B	0.590161	0.05587	N	1.384300	1	0.08975	N	1.445	0.36358	L	2.74	0.11730	T	-0.98	0.27259	N	0.051	0.07535	-0.9692	0.37366	T	0.025	0.10733	T	10	0.066293925	0.09070	T	7.42E-4	0.00510	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.10200965388074774	0.10131	1.54987763219	0.87883	.	.	.	.	.	.	-0.328421	0.06231	T	-0.70953	0.05319	T	0.0564412906346426	0.06597	T	.	.	.	.	.	.	.	.	.	.	.	-7.075	0.54580	T	.	.	0.117	0.27968	B	.;.;.;.	.;.;.;.	-0.709399	0.01299	0.070	0.67373079492482224	0.08335	0.00141	0.00861	N	AEFBI	0.044050	0.07041	N	-1.32507690532281	0.03391	0.1513701	-1.48749976679391	0.02446	0.1125302	6.30285219020309E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.506000	0.02375	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.238:0.3354:0.2407	0.540	0.00600	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	2377.43	34	chr19	54804943	.	G	A	2377.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.26;DP=2260;ExcessHet=0.7564;FS=9.528;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=58.51;MQRankSum=-15.36;QD=2.1;ReadPosRankSum=-3.066;SOR=1.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:248,37:285:99:0|1:54804844_A_G:807,0,10302:54804844	15	0	4	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K,KIR2DL4:NM_001080772:exon3:c.C240G:p.N80K	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3425.37	319	chr19	54804956	.	C	G	3425.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.46;DP=2582;ExcessHet=1.3;FS=7.603;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.55;MQRankSum=-16.01;QD=2.3;ReadPosRankSum=-3.043;SOR=1.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,38:288:99:0|1:54804844_A_G:843,0,10383:54804844	14	0	5	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I,KIR2DL4:NM_001080772:exon3:c.T244A:p.F82I	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3409.37	321	chr19	54804960	.	T	A	3409.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.144;DP=2585;ExcessHet=1.3;FS=7.609;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.63;MQRankSum=-15.69;QD=2.27;ReadPosRankSum=-2.733;SOR=1.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,36:291:99:0|1:54804844_A_G:744,0,10599:54804844	14	0	5	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M,KIR2DL4:NM_001080772:exon3:c.T252G:p.I84M	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3713.37	308	chr19	54804968	.	T	G	3713.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.33;DP=2589;ExcessHet=1.3;FS=5.728;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.6;MQRankSum=-15.19;QD=2.47;ReadPosRankSum=-2.044;SOR=1.403	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:257,38:295:99:0|1:54804844_A_G:801,0,10670:54804844	14	0	5	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G,KIR2DL4:NM_001080772:exon3:c.A253G:p.S85G	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3752.37	307	chr19	54804969	.	A	G	3752.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.37;DP=2600;ExcessHet=1.3;FS=7.163;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.6;MQRankSum=-15.2;QD=2.5;ReadPosRankSum=-1.557;SOR=1.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:258,38:296:99:0|1:54804844_A_G:798,0,10703:54804844	14	0	5	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S,KIR2DL4:NM_001080772:exon3:c.T299C:p.F100S	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	8030.14	336	chr19	54805015	.	T	C	8030.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.79;DP=2956;ExcessHet=4.0268;FS=6.647;InbreedingCoeff=-0.262;MLEAC=8;MLEAF=0.211;MQ=58.86;MQRankSum=-13.01;QD=3.18;ReadPosRankSum=1.01;SOR=1.37	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:272,38:310:99:0|1:54805010_A_G:777,0,11287:54805010	11	0	8	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L,KIR2DL4:NM_001080772:exon3:c.T300A:p.F100L	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	8007.14	338	chr19	54805016	.	T	A	8007.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.061;DP=2964;ExcessHet=4.0268;FS=6.669;InbreedingCoeff=-0.262;MLEAC=8;MLEAF=0.211;MQ=58.87;MQRankSum=-12.91;QD=3.16;ReadPosRankSum=0.2;SOR=1.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,38:316:99:0|1:54805010_A_G:759,0,11539:54805010	11	0	8	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R,KIR2DL4:NM_001080772:exon3:c.A308G:p.H103R	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	9966.21	342	chr19	54805024	.	A	G	9966.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.197;DP=3023;ExcessHet=4.0268;FS=7.817;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=58.86;MQRankSum=-12.27;QD=3.85;ReadPosRankSum=0.559;SOR=1.257	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,39:319:99:0|1:54805010_A_G:795,0,11577:54805010	11	0	8	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I,KIR2DL4:NM_001080772:exon3:c.C317T:p.T106I	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	11574.8	336	chr19	54805033	.	C	T	11574.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.08;DP=3229;ExcessHet=5.3738;FS=7.591;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.86;MQRankSum=-11.71;QD=4.13;ReadPosRankSum=0.026;SOR=1.151	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:279,43:322:99:0|1:54805010_A_G:901,0,11310:54805010	10	0	9	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V,KIR2DL4:NM_001080772:exon3:c.A352G:p.M118V	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16487.8	282	chr19	54805068	.	A	G	16487.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.661;DP=3098;ExcessHet=5.3738;FS=6.408;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.58;MQRankSum=-10.13;QD=6.21;ReadPosRankSum=0.594;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:261,78:339:99:0|1:54805068_A_G:2358,0,10425:54805068	10	0	9	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	11217.8	285	chr19	54805957	.	A	T	11217.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=6.41;DP=3489;ExcessHet=5.3738;FS=0.745;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.14;MQRankSum=-17.54;QD=4.08;ReadPosRankSum=1.88;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,82:348:99:0|1:54805940_TCTC_T:2642,0,10922:54805940	10	0	9	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	12237.8	292	chr19	54805960	.	A	G	12237.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.08;DP=3554;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.09;MQRankSum=-17.89;QD=4.35;ReadPosRankSum=1.92;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,85:351:99:0|1:54805940_TCTC_T:2768,0,10913:54805940	10	0	9	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	18304.8	343	chr19	54805974	.	A	T	18304.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=5;DP=3907;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.07;MQRankSum=-17.64;QD=5.78;ReadPosRankSum=0.738;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:284,106:390:99:0|1:54805940_TCTC_T:3596,0,11606:54805940	10	0	9	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	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	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.2368	21863.8	367	chr19	54805981	.	G	A	21863.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.72;DP=4133;ExcessHet=5.3738;FS=0.661;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.06;MQRankSum=-17.14;QD=6.47;ReadPosRankSum=-0.103;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:291,124:415:99:0|1:54805940_TCTC_T:4270,0,11825:54805940	10	0	9	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	28967.8	464	chr19	54806034	.	C	A	28967.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.002;DP=5609;ExcessHet=5.3738;FS=2.16;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.16;MQRankSum=-17.78;QD=7.14;ReadPosRankSum=2.67;SOR=0.52	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:330,142:472:99:0|1:54806034_C_A:4960,0,13417:54806034	10	0	9	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	29072.8	465	chr19	54806035	.	A	G	29072.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.057;DP=5621;ExcessHet=5.3738;FS=2.16;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.17;MQRankSum=-17.85;QD=7.12;ReadPosRankSum=2.75;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:332,142:474:99:0|1:54806034_C_A:4954,0,13501:54806034	10	0	9	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2368	26861.8	480	chr19	54806051	.	C	G	26861.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.294;DP=5669;ExcessHet=5.3738;FS=3.155;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.44;MQRankSum=-18.22;QD=6.48;ReadPosRankSum=4.27;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:338,133:471:99:0|1:54806034_C_A:4567,0,13792:54806034	10	0	9	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24665.8	493	chr19	54806072	.	GGA	G	24665.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.909;DP=5543;ExcessHet=5.3738;FS=5.455;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.64;MQRankSum=-17.97;QD=5.92;ReadPosRankSum=2.26;SOR=1.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:340,133:473:99:0|1:54806034_C_A:4561,0,13876:54806034	10	0	9	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24827.8	486	chr19	54806075	.	A	AGG	24827.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.586;DP=5494;ExcessHet=5.3738;FS=5.401;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.62;MQRankSum=-18.11;QD=6.01;ReadPosRankSum=1.98;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:338,131:469:99:0|1:54806034_C_A:4483,0,13798:54806034	10	0	9	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	24762.8	493	chr19	54806086	.	T	C	24762.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.369;DP=5427;ExcessHet=5.3738;FS=5.364;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.59;MQRankSum=-17.7;QD=6.11;ReadPosRankSum=-0.813;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:324,129:453:99:0|1:54806034_C_A:4441,0,13216:54806034	10	0	9	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22088.8	476	chr19	54806109	.	A	G	22088.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.825;DP=5255;ExcessHet=5.3738;FS=6.805;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.8;MQRankSum=-16.73;QD=5.7;ReadPosRankSum=-4.112;SOR=1.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:315,113:428:99:0|1:54806034_C_A:3797,0,12887:54806034	10	0	9	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D,KIR2DL4:NM_001080772:exon4:c.A523G:p.N175D	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	7182.66	479	chr19	54806112	.	A	G	7182.66	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.229;DP=5127;ExcessHet=2.0135;FS=6.726;InbreedingCoeff=-0.1909;MLEAC=6;MLEAF=0.158;MQ=57.97;MQRankSum=-16.13;QD=2.73;ReadPosRankSum=-2.644;SOR=1.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:363,48:411:99:.:.:284,0,14370:.	13	0	6	0
chr19	54806161	54806161	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A572G:p.E191G,KIR2DL4:NM_001080772:exon4:c.A572G:p.E191G	.	416	1062	43	1	0	45	0.0207469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00319016254727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482608476	1.369e-06	2.805e-05	0	2.752e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	0	1.164e-05	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.197140	0.03293	U	2.244820	1	0.08975	N	-2.95	0.00016	N	6.83	0.00484	T	4.86	0.00044	N	0.172	0.19190	-0.8522	0.51816	T	0.000	0.00075	T	10	0.030806363	0.01209	T	0.00319	0.06996	T	0.125	0.34456	.	.	0.0675242888579	0.06100	0.08634734685735217	0.08568	1.74118563909	0.90866	.	.	.	.	.	.	-0.3614	0.04051	T	-0.756902	0.03225	T	0.0659469353070313	0.08069	T	.	.	.	.	.	.	.	.	.	.	.	1.576	0.00090	T	.	.	0.029	0.00020	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.208131	0.03048	0.471	0.28823449377494542	0.01499	0.00008	0.00134	N	AEFDBI	0.016221	0.00352	N	-2.10568283398864	0.00124	0.005325665	-2.01989730429939	0.00278	0.01226669	1.20238691917371E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.418	0.11728	0.692000	0.25161	.	.	-0.573000	0.04775	0.027000	0.20232	0.000000	0.08366	0.003000	0.05239	0.3266:0.0:0.6734:0.0	3.278	0.06497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	1795.4	47	chr19	54806161	.	A	G	1795.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.44;DP=3936;ExcessHet=2.0135;FS=17.833;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.42;MQRankSum=-17.69;QD=0.91;ReadPosRankSum=3.35;SOR=2.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,32:315:99:0|1:54806034_C_A:492,0,11787:54806034	13	0	6	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T,KIR2DL4:NM_001080772:exon4:c.G581C:p.R194T	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	1616.45	47	chr19	54806170	.	G	C	1616.45	.	AC=6;AF=0.158;AN=38;BaseQRankSum=3.6;DP=3936;ExcessHet=2.0135;FS=11.67;InbreedingCoeff=-0.1833;MLEAC=6;MLEAF=0.158;MQ=58.45;MQRankSum=-17.59;QD=0.82;ReadPosRankSum=2.4;SOR=2.535	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:287,30:317:99:0|1:54806034_C_A:396,0,11961:54806034	13	0	6	0
chr19	54806184	54806184	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T595C:p.F199L,KIR2DL4:NM_001080772:exon4:c.T595C:p.F199L	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00128745751053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169726842	0	1.095e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.247	0.26066	T	0.043	0.21573	B	0.027	0.21085	B	0.005759	0.01093	N	5.479650	1	0.08975	N	0.64	0.16041	N	5.85	0.00643	T	-3.62	0.69593	D	0.061	0.03502	-0.9217	0.45320	T	0.003	0.00929	T	10	0.099934906	0.18167	T	0.001287	0.01784	T	0.052	0.14661	.	.	0.290620346082	0.28682	0.02907533590376118	0.02856	2.04366087562	0.94286	.	.	.	.	.	.	-0.26258	0.12600	T	-0.614955	0.11585	T	0.0610753484070301	0.07336	T	.	.	.	.	.	.	.	.	.	.	.	-6.709	0.51878	T	.	.	0.675	0.82233	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.166739	0.03264	0.556	0.74081094485100063	0.10563	0.00161	0.00961	N	AEFBI	0.035128	0.04469	N	-1.23634316811277	0.04483	0.2024168	-1.37910423948924	0.03475	0.1621945	1.81584576774125E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.617	0.10999	-2.589000	0.00974	.	.	-3.015000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4179:0.0:0.0:0.5821	2.752	0.04959	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	2223.93	47	chr19	54806184	.	T	C	2223.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=6.11;DP=3906;ExcessHet=0.7564;FS=12.693;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=58.1;MQRankSum=-17.6;QD=1.71;ReadPosRankSum=0.112;SOR=2.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,31:312:99:0|1:54806034_C_A:456,0,11706:54806034	14	0	4	1
chr19	54806191	54806191	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G602A:p.G201E,KIR2DL4:NM_001080772:exon4:c.G602A:p.G201E	.	417	1081	23	1	0	25	0.0114312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000933240469926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751766410	2.739e-06	1.779e-05	2.725e-06	2.753e-06	6.004e-05	6.4e-07	4.3e-07	9.94e-06	3.72e-06	6.004e-05	0	0	0	0	0	0	0	2.329e-05	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.989	0.03205	T	0.007	0.14184	B	0.017	0.18140	B	0.000834	0.00693	N	25.857100	1	0.08975	N	0.385	0.12166	N	5.77	0.00687	T	-0.11	0.09796	N	0.067	0.12198	-0.8412	0.52567	T	0.002	0.00526	T	10	0.035131097	0.01749	T	9.33E-4	0.00911	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.014322109949426428	0.01389	1.91097436102	0.92909	.	.	.	.	.	.	-0.406241	0.02106	T	-0.821313	0.01426	T	0.152467426749554	0.17299	T	.	.	.	.	.	.	.	.	.	.	.	-5.575	0.45358	T	.	.	0.110	0.31330	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.356574	0.00045	0.001	0.63035751494400261	0.07118	0.00046	0.00367	N	AEFBI	0.026834	0.02083	N	-2.40257893415306	0.00027	0.001151865	-2.47848935217197	0.00026	0.001144284	0.126168324027902	0.16994	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-5.953000	0.00107	.	.	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3698:0.2864:0.3438:0.0	3.815	0.08326	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	2514.93	47	chr19	54806191	.	G	A	2514.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.393;DP=3918;ExcessHet=0.7564;FS=14.521;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=58.01;MQRankSum=-17.76;QD=1.9;ReadPosRankSum=-2.092;SOR=2.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,35:318:99:0|1:54806034_C_A:618,0,11778:54806034	14	0	4	1
chr19	54806230	54806230	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C641T:p.P214L,KIR2DL4:NM_001080772:exon4:c.C641T:p.P214L	.	417	1092	12	1	0	14	0.00636943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000816710685669	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs373028201	1.371e-06	1.505e-05	1.364e-06	1.378e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.30943	T	0.751	0.15406	T	0.0	0.02946	B	0.002	0.08700	B	0.008959	0.01224	N	6.106810	1	0.08975	N	-0.34	0.03507	N	2.72	0.11947	T	-2.22	0.56144	N	0.07	0.08227	-0.9609	0.39012	T	0.015	0.05801	T	10	0.024040222	0.00648	T	8.17E-4	0.00670	T	0.014	0.01968	.	.	0.0675242888579	0.06100	0.021072794982650286	0.02060	1.56403758506	0.88076	.	.	.	.	.	.	-0.392352	0.02598	T	-0.801363	0.01868	T	0.0486300559627527	0.05257	T	.	.	.	.	.	.	.	.	.	.	.	-1.357	0.29719	T	.	.	0.072	0.12181	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.620061	0.01518	0.097	0.48884289032456646	0.04116	0.00062	0.00453	N	AEFBI	0.019551	0.00689	N	-2.36564159368528	0.00032	0.001392303	-2.42714203885532	0.00034	0.001497015	0.00765305925471646	0.11515	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.01	-2.01	0.07003	-0.780000	0.04759	.	.	-3.486000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2225:0.3846:0.0:0.3929	3.217	0.06304	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	321.83	47	chr19	54806230	.	C	T	321.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.65;DP=1774;ExcessHet=0.119;FS=10.485;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=58.04;MQRankSum=-15.89;QD=0.61;ReadPosRankSum=-0.388;SOR=1.797	GT:AD:DP:GQ:PL	0/1:248,24:272:28:28,0,7056	17	0	2	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	21983.8	431	chr19	54808838	.	C	T	21983.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=4.49;DP=4107;ExcessHet=5.3738;FS=2.282;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.63;MQRankSum=-19.28;QD=5.92;ReadPosRankSum=0.827;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:356,123:479:99:0|1:54808838_C_T:4093,0,14519:54808838	10	0	9	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5,KIR2DL4:NM_001080772:exon5:c.674_675del:p.W225Sfs*5	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	23223.8	454	chr19	54808850	.	TGG	T	23223.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.49;DP=4360;ExcessHet=5.3738;FS=1.396;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.81;MQRankSum=-18.9;QD=5.89;ReadPosRankSum=0.205;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:375,134:509:99:0|1:54808838_C_T:4498,0,15281:54808838	10	0	9	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15,KIR2DL4:NM_001080772:exon5:c.676_677insAT:p.P226Hfs*20	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24382.8	451	chr19	54808853	.	C	CAT	24382.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.99;DP=4351;ExcessHet=5.3738;FS=1.396;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.86;MQRankSum=-18.78;QD=6.24;ReadPosRankSum=0.002;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:370,136:506:99:0|1:54808838_C_T:4597,0,15075:54808838	10	0	9	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S,KIR2DL4:NM_001080772:exon5:c.T698C:p.F233S	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010989	0.000000	0.2368	28020.8	436	chr19	54808875	.	T	C	28020.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.98;DP=4474;ExcessHet=5.3738;FS=0.625;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.08;MQRankSum=-17.34;QD=6.97;ReadPosRankSum=-2.035;SOR=0.643	GT:AD:DP:GQ:PL	0/1:377,159:536:99:5500,0,10216	10	0	9	0
chr19	54830166	54830166	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1226C:p.R409T,KIR3DL1:NM_013289:exon9:c.G1226C:p.R409T	.	489	977	43	13	0	69	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00280289760826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402897436	0	6.612e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.13e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.63226	T	0.404	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	2.205	0.62170	M	7.22	0.00442	T	-2.14	0.48523	N	0.155	0.19861	-0.9566	0.39807	T	0.001	0.00438	T	8	0.05749756	0.06613	T	0.002803	0.05840	T	0.014	0.01968	0.257	0.19845	0.0611884634855	0.05136	0.14103244144494176	0.14026	0.341241828603	0.36058	.	.	.	0.005761	0.05208	T	-0.327897	0.06272	T	-0.708778	0.05358	T	0.0654255235430696	0.07993	T	.	.	.	0.077683635	0.17647	0.09936527	0.23722	0.077683635	0.17647	0.09936527	0.23722	-8.799	0.66394	D	.	.	0.112	0.22573	B	.;.;.	.;.;.	-0.127859	0.03478	0.649	0.55859222650876794	0.05430	0.00622	0.02746	N	AEFBI	0.041929	0.06440	N	-1.14611797788255	0.05843	0.2674817	-1.32606166375958	0.04096	0.1925055	3.25109135686022E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-0.857000	0.04394	.	.	0.254000	0.18348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3464.37	500	chr19	54830166	.	G	C	3464.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.189;DP=4368;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.27;MQRankSum=-17.81;QD=2.01;ReadPosRankSum=-0.268;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:326,39:365:99:0|1:54830166_G_C:657,0,13401:54830166	14	0	5	0
chr19	54830177	54830177	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1237T:p.R413C,KIR3DL1:NM_013289:exon9:c.C1237T:p.R413C	.	487	975	47	13	0	73	0.036085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00205586965996	.	0.000199681	2.628e-05	0.0002	9.156e-05	0	0	0	0	0	3.84e-05	1	26028	rs573252093	1.446e-05	8.441e-05	1.723e-05	1.165e-05	0.0002	9.44e-06	7.68e-06	4.146e-05	2.416e-05	0.0001	9.576e-05	0	0	0	0.0002	7.555e-06	1.754e-05	2.641e-05	4.289e-05	0.0001	5.533e-05	2.959e-05	0.0002	1.84e-05	1.211e-05	6.588e-05	4.499e-05	0.0002	0	0	0	0	0	0	0	0	0	0.116	0.49117	T	0.123	0.35970	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.15	0.00445	T	-2.1	0.47852	N	0.103	0.14196	-0.9722	0.36734	T	0.001	0.00408	T	8	0.05926463	0.07096	T	0.002056	0.03748	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.14280557230036842	0.14203	0.306309179821	0.32927	.	.	.	0.004918	0.04343	T	-0.530801	0.00380	T	-0.694259	0.06145	T	0.0218732288632759	0.00894	T	.	.	.	0.11626438	0.27425	0.10402554	0.24975	0.11626438	0.27425	0.10402554	0.24975	-8.101	0.62445	D	.	.	0.106	0.21541	B	.;.;.	.;.;.	1.217707	0.16111	12.33	0.46755602533799501	0.03769	0.01115	0.04074	N	AEFBI	0.054109	0.09809	N	-1.01848295800702	0.08221	0.384663	-1.15555151539374	0.06668	0.3217553	2.10729526415108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	0.650000	0.24544	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3568.37	500	chr19	54830177	.	C	T	3568.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.692;DP=4402;ExcessHet=1.3;FS=0.852;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.24;MQRankSum=-18.17;QD=2.02;ReadPosRankSum=1.52;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,40:369:99:0|1:54830166_G_C:689,0,13678:54830166	14	0	5	0
chr19	54830178	54830178	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1238C:p.R413P,KIR3DL1:NM_013289:exon9:c.G1238C:p.R413P	.	488	973	48	13	0	74	0.0366337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00338705456639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984592565	2.892e-06	0.0003	0	5.825e-06	1.321e-05	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	0	1.321e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.38407	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.215	0.09537	N	7.23	0.00430	T	-0.45	0.24676	N	0.05	0.04072	-0.9082	0.47073	T	0.001	0.00255	T	8	0.05937442	0.07126	T	0.003387	0.07603	T	0.016	0.02506	0.366	0.37361	0.0401082797425	0.02173	0.09140339593159023	0.09073	0.323214894628	0.34489	.	.	.	0.001071	0.00595	T	-0.371148	0.03536	T	-0.770905	0.02738	T	0.0905973222850487	0.11288	T	.	.	.	0.09353458	0.21971	0.14968953	0.35334	0.09353458	0.21970	0.14968953	0.35333	-5.275	0.49736	T	.	.	0.093	0.14797	B	.;.;.	.;.;.	-0.439146	0.02071	0.191	0.43628759508592302	0.03298	0.00008	0.00134	N	AEFBI	0.019406	0.00671	N	-1.59627941012569	0.01283	0.05585422	-1.71860603525739	0.01058	0.04746591	9.63160874456533E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-0.491000	0.06555	.	.	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3559.37	500	chr19	54830178	.	G	C	3559.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.441;DP=4405;ExcessHet=1.3;FS=0.846;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.24;MQRankSum=-18.06;QD=2.02;ReadPosRankSum=1.69;SOR=0.58	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:328,40:368:99:0|1:54830166_G_C:692,0,13644:54830166	14	0	5	0
chr19	54830217	54830217	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1277C:p.I426T,KIR3DL1:NM_013289:exon9:c.T1277C:p.I426T	.	490	959	60	13	0	86	0.0429142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00252436282351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199822561	1.447e-06	6.26e-05	1.437e-06	1.458e-06	1.89e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	0	0	8.482e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.707	0.18732	T	0.001	0.07471	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.51	0.38214	L	7.01	0.00465	T	1.33	0.01107	N	0.136	0.15469	-0.9482	0.41279	T	0.001	0.00378	T	8	0.053025752	0.05429	T	0.002524	0.05037	T	0.031	0.07369	0.329	0.31357	0.0138822411134	0.00435	0.05436384389562955	0.05378	0.2842650222	0.30852	.	.	.	0.00346	0.02869	T	-0.377913	0.03211	T	-0.780622	0.02435	T	0.109476455881908	0.13368	T	.	.	.	0.060243543	0.12340	0.12511967	0.30151	0.060243543	0.12340	0.12511967	0.30150	-2.004	0.06104	T	.	.	0.127	0.34160	B	.;.;.	.;.;.	-0.422644	0.02129	0.203	0.1578796069653349	0.00399	0.00213	0.01210	N	AEFBI	0.035053	0.04446	N	-1.5374920893244	0.01609	0.07032718	-1.65054767699224	0.01373	0.06202174	1.82473746354949E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.727	0.10603	-0.855000	0.04403	.	.	-2.187000	0.00360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	4015.37	500	chr19	54830217	.	T	C	4015.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.427;DP=4403;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.23;MQRankSum=-17.99;QD=2.27;ReadPosRankSum=4.03;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:325,41:366:99:0|1:54830166_G_C:743,0,13523:54830166	14	0	5	0
chr19	54830219	54830219	T	A	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1279A:p.L427M,KIR3DL1:NM_013289:exon9:c.T1279A:p.L427M	.	490	958	61	13	0	87	0.0434348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00220836784564	.	.	1.752e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs200821495	2.17e-06	0.0009	0	4.372e-06	9.449e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.449e-07	3.512e-05	0	7.376e-06	0.0005	1.429e-05	0	1.625e-05	0	0	.	.	0	0	0	0	0	0	0	1.625e-05	0	0	0.036	0.43708	D	0.044	0.49942	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	7.15	0.00440	T	0.02	0.07155	N	0.097	0.09066	-0.9488	0.41177	T	0.001	0.00255	T	8	0.059903473	0.07273	T	0.002208	0.04178	T	0.033	0.08068	0.343	0.33626	0.0611884634855	0.05136	0.06365489919836881	0.06304	0.217370059748	0.24259	.	.	.	0.001032	0.00564	T	-0.359885	0.04136	T	-0.754727	0.03305	T	0.0475029693969738	0.05054	T	.	.	.	0.12672478	0.29674	0.09114859	0.21413	0.12672478	0.29673	0.09114859	0.21413	-2.726	0.11147	T	.	.	0.087	0.11027	B	.;.;.	.;.;.	-0.079285	0.03768	0.787	0.57251924956472933	0.05728	0.00098	0.00638	N	AEFBI	0.020111	0.00761	N	-1.48858900803104	0.01930	0.08470691	-1.56128690325375	0.01899	0.08661785	1.77709840166136E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.346000	0.07809	.	.	-2.056000	0.00415	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	4012.37	500	chr19	54830219	.	T	A	4012.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.661;DP=4404;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.26;MQRankSum=-18.05;QD=2.27;ReadPosRankSum=3.57;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:322,41:363:99:0|1:54830166_G_C:752,0,13397:54830166	14	0	5	0
chr19	54830226	54830226	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1286T:p.T429M,KIR3DL1:NM_013289:exon9:c.C1286T:p.T429M	.	491	956	62	13	0	88	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00266394809513	7.9e-05	.	4.38e-05	0.0004	0	0	0	1.578e-05	0	0	7.12e-05	11	154602	rs72629105	2.892e-06	0.0008	1.435e-06	4.369e-06	2.833e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	1.754e-05	0	2.894e-05	0.0005	4.202e-05	1.496e-05	7.701e-05	9.76e-06	5.56e-06	2.041e-05	1.066e-05	7.701e-05	0	0	0	0	0	0	1.605e-05	0	0	0.054	0.52492	T	0.299	0.22359	T	0.122	0.26746	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	7.16	0.00445	T	0.53	0.04022	N	0.061	0.03726	-0.9699	0.37220	T	0.001	0.00287	T	8	0.04146093	0.02803	T	0.002664	0.05434	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.1972985884992638	0.19646	0.240531653146	0.26595	.	.	.	0.001518	0.00960	T	-0.551009	0.00288	T	-0.749827	0.03492	T	0.0218708623688418	0.00894	T	.	.	.	0.024346609	0.01257	0.069218	0.14554	0.024346609	0.01257	0.069218	0.14554	-2.712	0.13893	T	.	.	0.079	0.09385	B	.;.;.	.;.;.	-0.578230	0.01633	0.113	0.60277366403116528	0.06425	0.00031	0.00285	N	AEFBI	0.021009	0.00889	N	-1.21141140468678	0.04833	0.218967	-1.35673268790221	0.03727	0.1744511	2.06319095939035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.01	0.09650	-1.643000	0.02106	.	.	-2.138000	0.00378	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	3932.37	500	chr19	54830226	.	C	T	3932.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.664;DP=4371;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.38;MQRankSum=-18.39;QD=2.27;ReadPosRankSum=2.58;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:304,40:344:99:0|1:54830166_G_C:765,0,12645:54830166	14	0	5	0
chr19	54830253	54830253	C	-	exonic	KIR3DL1	.	frameshift deletion	KIR3DL1:NM_001322168:exon9:c.1313delC:p.S438Ffs*6,KIR3DL1:NM_013289:exon9:c.1313delC:p.S438Ffs*6	.	484	969	56	13	0	82	0.0405941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.228e-07	4.922e-05	0	1.456e-06	9.442e-07	0	0	.	.	0	0	0	0	0	0	9.442e-07	0	0	0	4.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3561.33	500	chr19	54830252	.	TC	T	3561.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.511;DP=4224;ExcessHet=1.3;FS=0.843;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.3;MQRankSum=-15.73;QD=2.24;ReadPosRankSum=-1.435;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:279,37:316:99:0|1:54830166_G_C:714,0,11604:54830166	14	0	5	0
chr19	54830256	54830258	AAG	-	exonic	KIR3DL1	.	nonframeshift deletion	KIR3DL1:NM_001322168:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*,KIR3DL1:NM_013289:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*	.	491	962	56	13	0	82	0.0408774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	4.922e-05	1.435e-06	1.456e-06	1.888e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.888e-06	0	0	0	4.808e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3423.33	500	chr19	54830255	.	AAAG	A	3423.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.433;DP=4210;ExcessHet=1.3;FS=0.838;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=58.32;MQRankSum=-15.59;QD=2.18;ReadPosRankSum=-1.73;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,36:317:99:0|1:54830166_G_C:666,0,11691:54830166	14	0	5	0
chr19	54835088	54835088	T	G	exonic	KIR2DS4	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon2:c.T44G:p.L15W,KIR2DS4:NM_001281972:exon2:c.T44G:p.L15W	.	436	1020	60	6	0	72	0.0340909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	.	0.0015	0.0006	0.0005	0.0002	0.0020	0.0021	0.0035	0.0009	0.0008452	22	26028	rs200101952	0.0004	0.0030	0.0003	0.0005	0.0017	0.0003	0.0003	0.0014	0.0013	9.206e-05	0.0007	0.0004	0.0004	0.0011	0.0002	0.0002	0.0002	0.0017	0.0004	0.0042	0.0004	0.0004	0.0008	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0002	0.0006	0.0002	0.0006	0	0.0005	0.0021	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013975	0.015464	0.017857	0.020958	0.000000	0.026786	0.016234	0.012097	0.05263	451.83	84	chr19	54835088	.	T	G	451.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.32;DP=1702;ExcessHet=0.119;FS=11.099;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.11;MQRankSum=-6.553;QD=1.55;ReadPosRankSum=-3.195;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,18:179:99:0|1:54835065_A_G:152,0,6638:54835065	17	0	2	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16182.8	400	chr19	54855625	.	A	T	16182.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.948;DP=3660;ExcessHet=5.3738;FS=5.844;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.44;MQRankSum=-15.96;QD=4.91;ReadPosRankSum=1.39;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,85:358:99:0|1:54855608_TCTC_T:2747,0,11207:54855608	10	0	9	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G,KIR3DL2:NM_006737:exon5:c.A665G:p.E222G	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	15726.8	400	chr19	54855628	.	A	G	15726.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.821;DP=3692;ExcessHet=5.3738;FS=4.645;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.48;MQRankSum=-16.15;QD=4.72;ReadPosRankSum=0.875;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,85:365:99:0|1:54855608_TCTC_T:2726,0,11434:54855608	10	0	9	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10,KIR3DL2:NM_006737:exon5:c.704_705del:p.Q235Rfs*10	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4676.36	37	chr19	54855666	.	CAG	C	4676.36	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.815;DP=2910;ExcessHet=2.0135;FS=16.669;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.1;MQRankSum=-18.27;QD=1.99;ReadPosRankSum=-0.397;SOR=1.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:342,58:400:99:0|1:54855666_CAG_C:1406,0,14109:54855666	13	0	6	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5,KIR3DL2:NM_006737:exon5:c.706_707insCA:p.G237Qfs*5	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4691.36	37	chr19	54855669	.	G	GCA	4691.36	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.507;DP=2868;ExcessHet=2.0135;FS=16.669;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.27;MQRankSum=-18.56;QD=2;ReadPosRankSum=-0.817;SOR=1.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:339,58:397:99:0|1:54855666_CAG_C:1415,0,14050:54855666	13	0	6	0
chr19	54859084	54859084	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.C955T:p.P319S	.	416	1029	76	1	0	78	0.0365169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000624441967726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.231e-05	4.085e-06	1.651e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.572e-06	2.625e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.425	0.13912	T	0.886	0.48745	P	0.383	0.43945	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	7.02	0.00454	T	-2.97	0.61865	D	0.064	0.03613	-0.8674	0.50724	T	0.001	0.00467	T	9	0.09483707	0.16894	T	6.24E-4	0.00303	T	0.064	0.18567	0.248	0.18447	0.117506650769	0.11410	0.04836548424617068	0.04779	1.71135710155	0.90445	0.356161952019	0.18825	T	0.059672	0.31178	T	-0.393334	0.02559	T	-0.802774	0.01834	T	0.34234310394307	0.26717	T	.	.	.	0.039089512	0.05330	0.078269705	0.17516	0.039089512	0.05330	0.078269705	0.17516	-2.822	0.08388	T	.	.	0.088	0.11606	B	.	.	0.788312	0.11583	8.178	0.84617625941685071	0.15397	0.00022	0.00232	N	AEFGBI	0.014378	0.00226	N	-0.746472741392689	0.14729	0.7361992	-0.985325967743381	0.10114	0.5073769	0.00905559668788433	0.11788	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-0.604	0.11043	-0.027000	0.12319	.	.	-0.464000	0.05108	0.037000	0.20830	0.000000	0.08366	0.012000	0.09680	0.0:0.3552:0.0:0.6448	2.974	0.05570	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	2293.43	58	chr19	54859084	.	C	T	2293.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.757;DP=2389;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=43.1;MQRankSum=-6.226;QD=1.28;ReadPosRankSum=-1.091;SOR=0.686	GT:AD:DP:GQ:PL	0/1:349,53:402:99:1175,0,9330	15	0	4	0
chr19	54859097	54859098	GG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_006737:exon6:c.968_969del:p.W323Sfs*62	.	418	1027	76	1	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2124.39	58	chr19	54859096	.	TGG	T	2124.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.89;DP=2420;ExcessHet=0.7564;FS=0.938;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=42.24;MQRankSum=-5.586;QD=1.17;ReadPosRankSum=0.893;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:360,53:413:99:0|1:54859096_TGG_T:1139,0,14886:54859096	15	0	4	0
chr19	54859099	54859099	-	AT	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_006737:exon6:c.970_971insAT:p.P324Hfs*20	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2020.39	58	chr19	54859099	.	C	CAT	2020.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.825;DP=2401;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=42.16;MQRankSum=-5.525;QD=1.12;ReadPosRankSum=1.1;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:360,52:412:99:0|1:54859096_TGG_T:1100,0,14889:54859096	15	0	4	0
chr19	54859126	54859126	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.T997A:p.S333T	.	422	1024	75	1	0	77	0.0362353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.000592853644405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.969e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.952	0.02603	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.145	0.00921	N	7.11	0.00444	T	1.51	0.00728	N	0.047	0.01911	-0.9540	0.40274	T	0.000	0.00114	T	9	0.020475209	0.00472	T	5.93E-4	0.00260	T	0.058	0.16647	0.251	0.18912	0.0482279557977	0.04254	0.03848246725599166	0.03794	1.5778815892	0.88350	0.446997404099	0.31534	T	0.001513	0.00960	T	-0.446873	0.01178	T	-0.879678	0.00656	T	0.0579299394948747	0.06839	T	.	.	.	0.035080478	0.04062	0.03344365	0.02239	0.035080478	0.04062	0.03344365	0.02239	-2.536	0.06032	T	.	.	0.060	0.00949	B	.	.	-0.849207	0.01014	0.042	0.38981453092339813	0.02662	0.00032	0.00291	N	AEFGBI	0.016009	0.00335	N	-2.17322769998613	0.00088	0.003762631	-2.19645317612939	0.00114	0.005011955	0.249042233931105	0.18659	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-1.7	0.07721	-2.450000	0.01084	.	.	-2.250000	0.00337	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2879:0.2416:0.223:0.2475	0.066	0.00016	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	.	.	.	.	.	.	.	.	0.1053	2183.43	58	chr19	54859126	.	T	A	2183.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.938;DP=2289;ExcessHet=0.7564;FS=0.941;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=41.24;MQRankSum=-4.282;QD=1.3;ReadPosRankSum=4.53;SOR=0.558	GT:AD:DP:GQ:PL	0/1:319,52:371:99:1226,0,9163	15	0	4	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R,KIR3DL2:NM_006737:exon7:c.T1006C:p.C336R	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22597.8	284	chr19	54865810	.	T	C	22597.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.986;DP=2652;ExcessHet=5.3738;FS=1.952;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.92;MQRankSum=-10.78;QD=9.81;ReadPosRankSum=1.98;SOR=0.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,94:271:99:0|1:54865794_T_C:3414,0,7149:54865794	10	0	9	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I,KIR3DL2:NM_006737:exon7:c.G1021A:p.V341I	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22429.8	301	chr19	54865825	.	G	A	22429.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.241;DP=2724;ExcessHet=5.3738;FS=1.229;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.98;MQRankSum=-10.85;QD=9.44;ReadPosRankSum=1.27;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,93:275:99:0|1:54865794_T_C:3357,0,7362:54865794	10	0	9	0
chr19	54865832	54865832	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T977C:p.I326T,KIR3DL2:NM_006737:exon7:c.T1028C:p.I343T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.000564184354363	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs754444084	8.895e-06	8.893e-06	9.531e-06	8.252e-06	4.472e-05	4.96e-06	3.82e-06	7.41e-06	2.77e-06	2.987e-05	4.472e-05	0	0	0	0	8.096e-06	1.656e-05	0	6.572e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.065	0.36310	T	0.303	0.20164	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	6.96	0.00492	T	-2.86	0.60188	D	0.222	0.24883	-0.9378	0.42963	T	0.002	0.00556	T	9	0.10151869	0.18553	T	5.64E-4	0.00221	T	0.030	0.07022	0.49	0.57573	0.0297737177859	0.01360	0.07885169017276672	0.07820	0.00211029390725	0.00180	0.485473334789	0.36812	T	0.065017	0.32582	T	-0.361573	0.04042	T	-0.660297	0.08246	T	0.0401075403605462	0.03709	T	.	.	.	0.06471756	0.13759	0.09754157	0.23220	0.06471756	0.13758	0.09754157	0.23220	-6.872	0.53092	T	.	.	0.046	0.00452	B	.;.	.;.	0.356836	0.07298	3.905	0.41793791219186988	0.03039	0.00302	0.01607	N	AEFBI	0.028124	0.02420	N	-1.30769808004854	0.03587	0.1604678	-1.46558098917267	0.02632	0.1213971	1.71969445681765E-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	-0.331	0.12050	-0.080000	0.11303	.	.	-0.465000	0.05106	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.3191:0.0:0.6809	2.978	0.05582	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	292.33	287	chr19	54865832	.	T	C	292.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.006;DP=2654;ExcessHet=0;FS=3.178;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.07;MQRankSum=-7.914;QD=1.07;ReadPosRankSum=0.841;SOR=0.766	GT:AD:DP:GQ:PL	0/1:236,37:273:99:306,0,9034	18	0	1	0
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A,KIR3DL2:NM_006737:exon7:c.T1043C:p.V348A	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22846.8	292	chr19	54865847	.	T	C	22846.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.52;DP=2735;ExcessHet=5.3738;FS=1.233;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.89;MQRankSum=-11.29;QD=9.58;ReadPosRankSum=-0.512;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,94:272:99:0|1:54865794_T_C:3411,0,7191:54865794	10	0	9	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I,KIR3DL2:NM_006737:exon7:c.T1048A:p.F350I	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22283.8	290	chr19	54865852	.	T	A	22283.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.288;DP=2728;ExcessHet=5.3738;FS=0.585;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.95;MQRankSum=-11.05;QD=9.38;ReadPosRankSum=-0.814;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,93:272:99:0|1:54865794_T_C:3366,0,7236:54865794	10	0	9	0
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I,KIR3DL2:NM_006737:exon7:c.C1060A:p.L354I	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	21311.8	283	chr19	54865864	.	C	A	21311.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.371;DP=2678;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58;MQRankSum=-10.79;QD=9.15;ReadPosRankSum=-1.298;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,98:273:99:0|1:54865794_T_C:3588,0,7053:54865794	10	0	9	0
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F,KIR3DL2:NM_006737:exon7:c.C1066T:p.L356F	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	20345.8	277	chr19	54865870	.	C	T	20345.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.04;DP=2639;ExcessHet=5.3738;FS=0.593;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58;MQRankSum=-10.61;QD=8.88;ReadPosRankSum=-1.286;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,92:262:99:0|1:54865794_T_C:3351,0,6861:54865794	10	0	9	0
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H,KIR3DL2:NM_006737:exon7:c.T1081C:p.Y361H	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	18505.8	253	chr19	54865885	.	T	C	18505.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.01;DP=2431;ExcessHet=5.3738;FS=2.014;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.87;MQRankSum=-10.07;QD=8.9;ReadPosRankSum=-0.993;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,86:238:99:0|1:54865794_T_C:3154,0,6124:54865794	10	0	9	0
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	17382.8	250	chr19	54865888	.	C	T	17382.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.31;DP=2397;ExcessHet=5.3738;FS=2.047;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.88;MQRankSum=-10.14;QD=8.47;ReadPosRankSum=-1.507;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,84:232:99:0|1:54865794_T_C:3080,0,5962:54865794	10	0	9	0
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C,KIR3DL2:NM_006737:exon7:c.G1089C:p.W363C	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16780.8	240	chr19	54865893	.	G	C	16780.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.95;DP=2346;ExcessHet=5.3738;FS=2.047;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.82;MQRankSum=-9.923;QD=8.48;ReadPosRankSum=-1.483;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,79:213:99:0|1:54865794_T_C:2892,0,5344:54865794	10	0	9	0
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E,KIR3DL2:NM_006737:exon8:c.C1156G:p.Q386E	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	10927.4	327	chr19	54866420	.	C	G	10927.4	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-4.131;DP=2886;ExcessHet=2.9153;FS=19.849;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.15;MQRankSum=-16.65;QD=5.36;ReadPosRankSum=0.448;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,75:311:99:0|1:54866416_T_C:2439,0,9654:54866416	12	0	7	0
chr19	54866533	54866533	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon8:c.A1119T:p.E373D,KIR3DL2:NM_006737:exon9:c.A1170T:p.E390D	.	420	1022	80	0	0	80	0.0376648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.000605757839165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372092512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.432	0.13634	T	0.989	0.62824	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	1.455	0.36767	L	7.15	0.00448	T	-1.33	0.33197	N	0.032	0.07535	-0.8872	0.49172	T	0.003	0.00832	T	9	0.09381515	0.16631	T	6.06E-4	0.00274	T	0.049	0.13647	0.278	0.23164	0.309530620856	0.30565	0.04776419956839925	0.04719	0.00263683917289	0.00224	0.397166699171	0.24675	T	0.009012	0.08229	T	-0.310709	0.07687	T	-0.684088	0.06738	T	0.0624436335153859	0.07548	T	.	.	.	0.069478154	0.15226	0.052691333	0.08732	0.069478154	0.15226	0.052691333	0.08731	-5.991	0.46204	T	.	.	0.123	0.25914	B	.;.	.;.	1.370321	0.17801	13.38	0.9555976710174543	0.27236	0.00357	0.01833	N	AEFBI	0.023672	0.01352	N	-0.665085175571445	0.17022	0.8724157	-0.948421509682792	0.10960	0.5553993	3.55301781292242E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.4	-2.23	0.06539	0.255000	0.18102	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3911:0.0:0.0:0.6089	3.962	0.08909	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	1677.93	40	chr19	54866533	.	A	T	1677.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-0.178;DP=3750;ExcessHet=0.7564;FS=36.09;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=58.13;MQRankSum=-22.23;QD=0.82;ReadPosRankSum=0.265;SOR=2.956	GT:AD:DP:GQ:PL	0/1:460,66:526:99:583,0,13474	14	0	4	1
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3628.45	124	chr19	55358524	.	C	*	3628.45	.	AC=34;AF=0.895;AN=38;DP=2110;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.07;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,100:100:99:.:.:4411,307,0:.	0	15	4	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3915.38	124	chr19	55358535	.	T	*	3915.38	.	AC=34;AF=0.895;AN=38;DP=2124;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.23;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,100:100:99:.:.:4411,307,0:.	0	15	4	0
chr19	58470764	58470764	C	T	exonic	ZNF324	.	nonsynonymous SNV	ZNF324:NM_014347:exon4:c.C272T:p.S91F	.	423	1097	2	0	0	2	0.000910747	.	.	.	2392505	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.00982501212395	0.0004	0.000199681	0.0002	0	8.637e-05	0	0	0.0002	0	0.0003	0.0001746	27	154602	rs11550924	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	8.961e-05	4.472e-05	0	0	0	0.0002	0.0003	0.0002	0.0005	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	8.712e-05	0.0003	0.0002	2.406e-05	0	6.536e-05	0	0	0	0	0.0002	0.0005	0.0008	0.003	0.68238	D	0.013	0.63109	D	0.924	0.51285	P	0.459	0.46380	P	0.661050	0.10426	N	0.786081	1	0.08975	N	1.525	0.38595	L	3.33	0.06138	T	-1.67	0.39887	N	0.428	0.46742	-0.9674	0.37733	T	0.016	0.06329	T	10	0.04876986	0.04372	T	0.009825	0.25608	T	0.052	0.14661	.	.	0.349429436713	0.34558	0.1973162567364802	0.19648	1.39758405531	0.85125	0.315463542938	0.12734	T	0.05408	0.29621	T	-0.427973	0.01525	T	-0.530564	0.19230	T	0.0732925798487718	0.09106	T	0.865613	0.56501	D	0.075293444	0.16953	0.11528778	0.27831	0.075293444	0.16953	0.11528778	0.27830	-5.035	0.37218	T	.	.	0.169	0.37198	B	.;.;.	.;.;.	2.393292	0.30738	18.53	0.99518110058920284	0.69040	0.13701	0.18004	N	AEFDBCI	0.051074	0.08989	N	-0.570222826538981	0.19853	1.042352	-0.750409933492786	0.15712	0.8277218	0.944876304952062	0.27635	0.460665	0.09802	0	0.577304	0.33150	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	3.07	0.842	0.18064	0.183000	0.16729	1.891000	0.29518	0.545000	0.25583	0.000000	0.06391	0.010000	0.20010	0.006000	0.07323	0.2016:0.6798:0.0:0.1186	5.314	0.15153	911	0.21964	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2850.33	33	chr19	58470764	.	C	T	2850.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=1137;ExcessHet=0;FS=1.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=-1.118;QD=11.63;ReadPosRankSum=-0.3;SOR=0.81	GT:AD:DP:GQ:PL	0/1:137,108:245:99:2864,0,3594	18	0	1	0
chr20	96398	96398	C	G	exonic	DEFB125	.	nonsynonymous SNV	DEFB125:NM_153325:exon2:c.C452G:p.T151R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000832077720984	.	.	3.318e-05	0	8.651e-05	0	0	3.013e-05	0	6.177e-05	2.59e-05	4	154602	rs773249372	9.585e-06	9.577e-06	4.087e-06	1.514e-05	0.0003	5.56e-06	4.35e-06	6.099e-05	2.524e-05	0	0	0	0	0	0.0003	7.198e-06	4.972e-05	1.16e-05	2.627e-05	2.625e-05	2.57e-05	2.686e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0.0005	0	0.283	0.15354	T	0.13	0.34716	T	0.006	0.13644	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.66	0.12575	T	-0.52	0.16187	N	0.05	0.02179	-0.9887	0.32928	T	0.013	0.04843	T	9	0.033820063	0.01569	T	8.32E-4	0.00691	T	0.011	0.01250	0.244	0.17830	0.0138822411134	0.00435	0.05085030216266109	0.05027	0.0842060663455	0.09501	0.339974790812	0.16434	T	0.00893	0.08161	T	-0.420293	0.01703	T	-0.733841	0.04155	T	0.0242235141182377	0.01173	T	0.272373	0.04609	T	0.063440055	0.13357	0.046497814	0.06495	0.063440055	0.13356	0.046497814	0.06494	-5.932	0.45707	T	.	.	0.068	0.02861	B	.	.	-0.928051	0.00879	0.032	0.23480855660855474	0.00994	0.00268	0.01460	N	AEFBI	0.014797	0.00251	N	-2.05268576919088	0.00163	0.006961278	-2.13848685628599	0.00154	0.00675122	0.0109001945684169	0.12099	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.01	-6.02	0.02008	-1.211000	0.03106	-9.000000	0.00882	-2.631000	0.00227	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1738:0.2836:0.4066:0.1361	1.901	0.03069	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3958.33	44	chr20	96398	.	C	G	3958.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.42;DP=1034;ExcessHet=0;FS=1.357;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.554;SOR=0.785	GT:AD:DP:GQ:PL	0/1:185,150:335:99:3972,0,4848	18	0	1	0
chr20	2948007	2948007	A	G	exonic	PTPRA	.	nonsynonymous SNV	PTPRA:NM_001385316:exon3:c.A53G:p.N18S	.	636	873	13	0	0	13	0.00739056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0073	0.0053	0	0	.	0.0051	0	0.0084	0.0007374	114	154602	rs569471159	0.0013	0.0011	0.0011	0.0016	0.0113	0.0013	0.0013	0.0087	0.0077	0.0001	0.0026	0.0070	0	0.0002	0.0113	0.0007	0.0021	0.0067	0.0017	0.0017	0.0017	0.0017	0.0075	0.0015	0.0014	0.0055	0.0049	0.0004	0	0.0042	0.0104	0	0	0.0204	0.0013	0.0047	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	48.56	.	chr20	2948007	.	A	G	48.56	.	AC=2;AF=0.333;AN=6;DP=7;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.667;MQ=60;QD=24.28;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	1	0	16
chr20	3471222	3471222	G	T	exonic	ATRN	.	nonsynonymous SNV	ATRN:NM_001323332:exon1:c.G115T:p.G39W,ATRN:NM_139321:exon1:c.G115T:p.G39W,ATRN:NM_139322:exon1:c.G115T:p.G39W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.4414918586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.27194	T	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.336852	0.04164	N	1.548580	1	0.08975	N	0.205	0.09354	N	3.4	0.05642	T	-0.15	0.09297	N	0.186	0.21710	-0.9687	0.37468	T	0.012	0.04510	T	10	0.1323534	0.25190	T	0.441492	0.94173	D	0.083	0.24192	0.318	0.29581	0.158540857583	0.15491	0.24477019489842114	0.24391	0.86422399238	0.69122	0.858168244362	0.90841	D	0.062354	0.31893	T	-0.248775	0.14249	T	-0.595124	0.13224	T	0.281575232744217	0.24237	T	0.50395	0.15873	T	0.05374268	0.10214	0.04589341	0.06274	0.05374268	0.10214	0.04589341	0.06274	-5.208	0.39023	T	.	.	0.195	0.41678	B	.;.	.;.	3.275727	0.44858	22.0	0.84869712429925248	0.15546	0.77845	0.38324	D	ALL	0.162578	0.28876	N	-0.60823468640489	0.18695	0.9727201	-0.503421117689414	0.22059	1.196346	0.999999948825638	0.74766	0.685219	0.55550	0	0.484254	0.07192	0	0.674405	0.61402	0	0.372554	0.06265	0	.	.	4.92	2.84	0.32241	1.380000	0.33958	5.621000	0.49085	0.544000	0.25403	0.344000	0.25709	1.000000	0.68203	0.035000	0.13729	0.0844:0.1458:0.6089:0.1609	4.831	0.12805	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	705.33	30	chr20	3471222	.	G	T	705.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.073;DP=685;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=1.61;SOR=0.826	GT:AD:DP:GQ:PL	0/1:24,30:54:99:719,0,621	18	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4118	3174.68	176	chr20	3803192	.	G	C	3174.68	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-1.235;DP=2216;ExcessHet=17.0548;FS=208.448;InbreedingCoeff=-0.6531;MLEAC=15;MLEAF=0.441;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.04;SOR=13.387	GT:AD:DP:GQ:PL	0/1:60,32:102:99:113,0,846	3	0	14	2
chr20	6778760	6778760	C	G	exonic	BMP2	.	nonsynonymous SNV	BMP2:NM_001200:exon3:c.C862G:p.Q288E	Brachydactyly, type A2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0128015741403	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1459743085	6.84e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	6.57e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.167	0.23095	T	0.688	0.05958	T	0.001	0.07471	B	0.003	0.08700	B	0.002966	0.35639	N	0.342769	0.999768	0.48888	D	1.42	0.35681	L	-0.64	0.72125	T	-0.9	0.24244	N	0.113	0.10056	-0.7827	0.56149	T	0.247	0.61612	T	10	0.1467573	0.27819	T	0.012802	0.31686	T	0.081	0.23632	0.342	0.33464	0.647643943771	0.64472	0.48625083393941954	0.48545	1.01999695743	0.75081	0.604522526264	0.53543	T	0.437079	0.78323	T	-0.0542898	0.43794	T	-0.31576	0.43038	T	0.506143915719107	0.32855	D	0.927907	0.73422	D	0.12034295	0.28321	0.12323389	0.29718	0.12034295	0.28320	0.12323389	0.29718	-4.079	0.24980	T	.	.	0.163	0.35992	B	.	.	3.596702	0.50782	23.0	0.96523722490603714	0.30126	0.96029	0.67212	D	AEFDGBHCI	0.742207	0.68590	D	0.0866788876030167	0.45843	2.834032	0.287133835834555	0.54788	3.642771	0.999924129208952	0.46280	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	6.115000	0.71256	7.718000	0.67175	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.8669:0.1331:0.0	16.183	0.81745	938	0.14419	Transforming growth factor-beta, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1581.33	40	chr20	6778760	.	C	G	1581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=842;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.848;SOR=0.729	GT:AD:DP:GQ:PL	0/1:70,62:132:99:1595,0,1776	18	0	1	0
chr20	31544963	31544963	T	A	exonic	HM13	.	nonsynonymous SNV	HM13:NM_030789:exon4:c.T382A:p.F128I,HM13:NM_178580:exon4:c.T382A:p.F128I,HM13:NM_178581:exon4:c.T382A:p.F128I	.	419	1087	15	1	0	17	0.00775901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	.	0.00219649	0.0011	0	0.0003	0	0	0.0001	0.0022	0.0071	0.0009185	142	154602	rs184082131	0.0005	0.0005	0.0003	0.0007	0.0063	0.0004	0.0004	0.0059	0.0057	0	6.709e-05	0	2.519e-05	0	0.0012	6.565e-05	0.0005	0.0063	0.0002	0.0002	0.0001	0.0004	0.0068	0.0002	0.0002	0.0050	0.0044	0	0	0	0	0	0	0.0034	4.41e-05	0	0.0068	0.35	0.14449	T	0.375	0.16425	T	0.001	0.07471	B	0.006	0.12133	B	0.000068	0.52346	D	0.204862	0.99121	0.41334	D	-0.73	0.01772	N	2.27	0.17431	T	1.13	0.01182	N	0.35	0.39153	-1.0158	0.25078	T	0.021	0.08686	T	10	0.0054542124	0.00120	T	.	.	.	0.047	0.12962	.	.	0.128874641272	0.12493	0.40138406608135546	0.40053	0.874299983305	0.69511	0.50938808918	0.40136	T	0.061349	0.31630	T	-0.542017	0.00326	T	-0.547621	0.17555	T	0.0499496267034193	0.05492	T	0.865913	0.56597	D	0.13549691	0.31444	0.11208831	0.27043	0.13549691	0.31444	0.11208831	0.27043	-3.538	0.17395	T	.	.	0.060	0.05579	B	.;.;.;.;.	.;.;.;.;.	2.907202	0.38547	20.8	0.96271308213752815	0.29250	0.85468	0.44603	D	AEDBI	0.337218	0.43509	N	-0.384352226867468	0.26026	1.417295	-0.140040257552937	0.33795	1.936882	0.999999969001588	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	1.702000	0.37455	4.954000	0.46300	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	12.842	0.57194	711	0.56613	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002530	0.005102	0.000000	0.002924	0.000000	0.008621	0.000000	0.011364	0.05263	3347.81	34	chr20	31544963	.	T	A	3347.81	.	AC=2;AF=0.053;AN=38;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.43;SOR=0.846	GT:AD:DP:GQ:PL	1/1:0,110:110:99:3375,330,0	18	1	0	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4376.86	158	chr20	34852409	.	G	C	4376.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.129;DP=2851;ExcessHet=31.086;FS=291.473;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=0.306;SOR=13.781	GT:AD:DP:GQ:PL	0/1:103,46:149:38:38,0,1761	2	0	17	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	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	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	133.23	33	chr20	41100210	.	T	C	133.23	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-2.272;DP=885;ExcessHet=1.3;FS=188.217;InbreedingCoeff=-0.164;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=-0.601;SOR=8.584	GT:AD:DP:GQ:PL	0/1:41,13:54:29:29,0,799	13	0	5	1
chr20	50738061	50738061	A	G	exonic	PARD6B	.	nonsynonymous SNV	PARD6B:NM_032521:exon2:c.A271G:p.I91V	.	442	1070	9	1	0	11	0.0051139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0066	0.00439297	0.0062	0.0018	0.0020	0	0.0103	0.0088	0.0056	0.0031	0.0063583	983	154602	rs142921418	0.0082	0.0082	0.0083	0.0081	0.0094	0.0080	0.0080	0.0092	0.0092	0.0013	0.0021	0.0049	0	0.0100	0.0040	0.0094	0.0064	0.0032	0.0062	0.0061	0.0061	0.0062	0.0094	0.0058	0.0057	0.0088	0.0085	0.0013	0.0647	0.0033	0.0040	0	0.0086	0.0068	0.0094	0.0052	0.0037	0.587	0.05862	T	0.601	0.09425	T	0.0	0.02946	B	0.011	0.15521	B	0.000012	0.62929	N	0.110103	0.993702	0.42026	D	0.655	0.16177	N	1.92	0.23082	T	-0.39	0.13611	N	0.117	0.19190	-1.0753	0.08287	T	0.019	0.07986	T	10	0.0058921874	0.00132	T	.	.	.	0.047	0.12962	.	.	0.138757226776	0.13463	0.3899317708589102	0.38908	0.272749980587	0.29779	0.580203175545	0.50115	T	0.031695	0.22156	T	-0.604373	0.00137	T	-0.631521	0.10299	T	0.00658088937206584	0.00074	T	0.790321	0.43084	T	0.07281682	0.16227	0.06673828	0.13711	0.07281682	0.16227	0.06673828	0.13710	-0.823	0.35701	T	.	.	0.126	0.34383	B	.;.	.;.	2.435978	0.31345	18.71	0.73037053756398296	0.10184	0.81229	0.40677	D	AEFBCI	0.393482	0.47111	N	-0.347672708174574	0.27358	1.500341	-0.120459690892231	0.34567	1.989761	0.999996817449049	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.14	5.02	0.66742	2.524000	0.45250	5.452000	0.48648	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.9318:0.0:0.0682:0.0	11.890	0.51906	871	0.31377	PB1 domain|PB1 domain|PB1 domain|Partitioning defective protein 6, PB1 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.008621	0.009146	0.003788	0.05263	2558.81	33	chr20	50738061	.	A	G	2558.81	.	AC=2;AF=0.053;AN=38;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.99;SOR=1.468	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2586,240,0	18	1	0	0
chr20	52084831	52084831	C	T	exonic	ZFP64	.	nonsynonymous SNV	ZFP64:NM_001319146:exon5:c.G1007A:p.R336Q,ZFP64:NM_199427:exon9:c.G1664A:p.R555Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	.	0.0061	0.00559105	0.0018	0.0196	0.0005	0	0	0.0001	0.0022	0	0.001727	267	154602	rs61734611	0.0006	0.0006	0.0007	0.0005	0.0201	0.0006	0.0006	0.0188	0.0183	0.0201	0.0008	0.0010	0	0	0.0003	7.734e-05	0.0012	1.159e-05	0.0054	0.0054	0.0055	0.0053	0.0186	0.0051	0.0050	0.0175	0.0171	0.0186	0	0.0022	0.0014	0	0	0.0034	7.35e-05	0.0028	0	0.228	0.18434	T	0.589	0.08476	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	3.27	0.06681	T	-0.31	0.12099	N	0.091	0.06990	-0.9757	0.35970	T	0.009	0.03271	T	9	0.0023572147	0.00035	T	.	.	.	0.046	0.12618	.	.	0.0762999501168	0.06990	.	.	.	.	.	.	.	0.006674	0.06097	T	-0.725757	0.00025	T	-0.800339	0.01894	T	0.00300046056966284	0.00031	T	0.742826	0.36203	T	.	.	.	.	.	.	.	.	-3.29	0.13608	T	.	.	0.075	0.09868	B	.;.	.;.	1.046761	0.14277	10.85	0.9430517497331341	0.24619	0.11289	0.16535	N	AEFDBI	0.076193	0.15323	N	-0.713946391497292	0.15629	0.7893175	-0.687383956040576	0.17276	0.917876	0.0136404455247131	0.12491	0.744818	0.98587	0	0.588066	0.40923	0	0.732433	0.93434	0	0.635551	0.53088	0	.	.	4.4	1.4	0.21393	-0.017000	0.12529	-0.936000	0.06865	-0.218000	0.08083	0.001000	0.13787	0.000000	0.08366	0.591000	0.31164	0.0:0.5822:0.0:0.4178	7.872	0.28734	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.010101	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2331.33	34	chr20	52084831	.	C	T	2331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4;DP=840;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=2.38;SOR=0.692	GT:AD:DP:GQ:PL	0/1:124,87:211:99:2345,0,3004	18	0	1	0
chr20	56452648	56452648	G	A	exonic	CASS4	.	nonsynonymous SNV	CASS4:NM_001164114:exon5:c.G1310A:p.R437K,CASS4:NM_020356:exon5:c.G1472A:p.R491K,CASS4:NM_001164116:exon6:c.G1472A:p.R491K	.	426	1095	1	0	0	1	0.000456413	.	.	.	717060	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.067	.	0.0112	0.00778754	0.0032	0.0361	0.0009	0	0	7.494e-05	0.0011	0.0001	0.0030401	470	154602	rs16979936	0.0010	0.0010	0.0011	0.0008	0.0345	0.0009	0.0009	0.0328	0.0322	0.0345	0.0017	0	0	0	0.0016	2.158e-05	0.0022	0.0001	0.0096	0.0096	0.0102	0.0090	0.0331	0.0092	0.0090	0.0316	0.0310	0.0331	0	0.0038	0	0	0	0.0034	0.0001	0.0085	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.012	0.16265	B	0.011	0.15521	B	0.135950	0.18463	N	0.621704	1	0.08975	N	1.24	0.30952	L	2.05	0.20664	T	-0.88	0.23808	N	0.089	0.06720	-0.9885	0.32978	T	0.012	0.04653	T	10	0.002634257	0.00041	T	.	.	.	0.067	0.19503	.	.	0.0611884634855	0.05136	0.23253581508673563	0.23168	.	.	0.30453106761	0.11080	T	0.016997	0.13941	T	-0.697195	0.00038	T	-0.747789	0.03573	T	0.0021950570203464	0.00023	T	0.576842	0.20728	T	0.12844129	0.30028	0.12436019	0.29977	0.12844129	0.30028	0.12436019	0.29976	-3.792	0.20685	T	.	.	0.084	0.09917	B	.	.	2.151244	0.27404	17.45	0.75075834633762084	0.10936	0.44004	0.27223	N	AEFGBCI	0.220130	0.34492	N	-0.612198060079573	0.18577	0.965567	-0.509011373301213	0.21909	1.187402	0.971161572934481	0.29265	0.559995	0.30671	0	0.624146	0.53433	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.87	2.92	0.32998	1.585000	0.36210	6.664000	0.56257	0.676000	0.76740	0.106000	0.22914	1.000000	0.68203	1.000000	0.97212	0.2679:0.0:0.7321:0.0	9.401	0.37596	987	0.02648	Serine rich protein interaction domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.005051	0.010870	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1859.33	34	chr20	56452648	.	G	A	1859.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.61;DP=791;ExcessHet=0;FS=2.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-1.3;SOR=0.896	GT:AD:DP:GQ:PL	0/1:86,64:150:99:1873,0,2523	18	0	1	0
chr20	62318641	62318641	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon53:c.G7052A:p.R2351Q	.	413	1051	53	5	0	63	0.0290993	.	.	YES	705598	not_provided|LAMA5-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.118	.	0.0023	0.00958466	0.0085	0	0.0069	0.0004	0.0039	0.0057	0.0097	0.0311	0.0070504	1090	154602	rs147290767	0.0053	0.0053	0.0046	0.0061	0.0308	0.0052	0.0052	0.0299	0.0295	0.0004	0.0052	0.0073	0.0001	0.0034	0.0158	0.0036	0.0061	0.0308	0.0043	0.0043	0.0036	0.0049	0.0342	0.0040	0.0039	0.0299	0.0283	0.0005	0	0.0075	0.0058	0.0006	0.0034	0.0136	0.0040	0.0043	0.0342	0.026	0.46910	D	0.045	0.49390	D	0.992	0.64738	D	0.821	0.59116	P	0.000000	0.84330	U	0.000000	0.998701	0.45307	D	2.545	0.74286	M	2.78	0.11298	T	-1.81	0.42575	N	0.163	0.17140	-1.1561	0.00855	T	0.030	0.13111	T	10	0.008121192	0.00184	T	.	.	.	0.118	0.32913	.	.	0.471127988307	0.46741	0.38419175581598297	0.38334	.	.	0.559405207634	0.47184	T	0.061476	0.31665	T	-0.54444	0.00315	T	-0.531829	0.19105	T	0.0427624365142941	0.04194	T	0.669833	0.27843	T	0.1482019	0.33845	0.12100943	0.29200	0.1482019	0.33844	0.12100943	0.29199	-2.792	0.08110	T	.	.	0.082	0.08899	B	.	.	0.950625	0.13269	9.768	0.99899322235197996	0.97124	0.28875	0.23672	N	AEFDGBHCI	0.176582	0.30380	N	-0.309134395916353	0.28799	1.59159	-0.518950088372253	0.21639	1.171539	0.999997808372358	0.74766	0.67177	0.52595	0	0.626922	0.53725	0	0.702456	0.68683	0	0.562822	0.20929	0	.	.	3.46	1.46	0.21769	0.147000	0.16021	-3.092000	0.03068	-0.201000	0.08892	0.005000	0.17040	0.000000	0.08366	0.331000	0.25224	0.0:0.8078:0.0:0.1922	8.916	0.34740	774	0.48577	Laminin alpha, domain I	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017189	0.010309	0.010899	0.005882	0.000000	0.034483	0.021605	0.041667	0.02632	582.33	36	chr20	62318641	.	C	T	582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.733;SOR=0.704	GT:AD:DP:GQ:PL	0/1:29,24:53:99:596,0,649	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	70838.3	366	chr21	13610565	.	G	A	70838.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3;DP=4790;ExcessHet=8.2795;FS=1.103;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-8.431;QD=15.65;ReadPosRankSum=0.808;SOR=0.764	GT:AD:DP:GQ:PL	0/1:163,120:283:99:2908,0,4162	3	3	13	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.5	51549.3	311	chr21	13610631	.	A	G	51549.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.175;DP=3934;ExcessHet=8.2795;FS=4.175;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=50.54;MQRankSum=-13.57;QD=13.93;ReadPosRankSum=0.36;SOR=1.018	GT:AD:DP:GQ:PL	0/1:150,94:244:99:2242,0,3957	3	3	13	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5526	47375.2	161	chr21	13641414	.	A	G	47375.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.158;DP=2954;ExcessHet=3.6106;FS=1.192;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=58.14;MQRankSum=-1.219;QD=17.04;ReadPosRankSum=0.529;SOR=0.59	GT:AD:DP:GQ:PL	0/1:95,113:208:99:2582,0,2298	3	5	11	0
chr21	14967900	14967900	C	T	exonic	NRIP1	.	nonsynonymous SNV	NRIP1:NM_003489:exon4:c.G293A:p.R98Q	.	.	.	.	.	.	.	.	.	.	.	2309349	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.214	0.00687738932213	.	0.000399361	6.615e-05	0.0006	0	0	0	1.504e-05	0	6.065e-05	6.47e-05	10	154602	rs553224991	2.394e-05	2.394e-05	2.314e-05	2.475e-05	0.0002	1.739e-05	1.539e-05	9.75e-05	6.95e-05	0.0002	0	0	0	0	0	1.978e-05	3.312e-05	4.637e-05	7.879e-05	7.875e-05	7.71e-05	8.057e-05	0.0002	4.494e-05	3.51e-05	0.0001	9.91e-05	0.0002	0	0	0	0	0	0	2.94e-05	0	0	0.014	0.53172	D	0.208	0.26883	T	0.997	0.70673	D	0.677	0.53365	P	0.001505	0.38793	N	0.229124	0.982424	0.39890	D	1.78	0.46185	L	3.0	0.09167	T	-2.91	0.60982	D	0.425	0.46462	-1.1989	0.00158	T	0.056	0.23565	T	10	0.101445526	0.18537	T	0.006877	0.18205	T	0.214	0.50650	.	.	0.330131851566	0.32626	0.08775094577399038	0.08708	0.184186325535	0.20715	0.619613409042	0.55675	T	0.141445	0.47650	T	-0.323029	0.06652	T	-0.385629	0.35063	T	0.274321836816729	0.23931	T	0.915408	0.69775	D	0.20326686	0.42399	0.19199957	0.42689	0.20326686	0.42399	0.19199957	0.42688	-4.361	0.29023	T	.	.	0.147	0.34949	B	.;.;.	.;.;.	5.203770	0.87303	29.2	0.99921246723049151	0.98787	0.93725	0.59013	D	AEFBHCI	0.505152	0.53642	D	0.643813630854673	0.75968	6.400824	0.677281207656241	0.80657	7.347805	0.999999059517607	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	3.692000	0.54460	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.053	0.97635	994	0.00715	Nuclear receptor-interacting protein 1, repression domain 1;Nuclear receptor-interacting protein 1, repression domain 1;Nuclear receptor-interacting protein 1, repression domain 1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2401.33	33	chr21	14967900	.	C	T	2401.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.632;DP=913;ExcessHet=0;FS=2.156;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=-0.762;SOR=0.944	GT:AD:DP:GQ:PL	0/1:58,88:146:99:2415,0,1401	18	0	1	0
chr21	30755152	30755152	T	C	exonic	KRTAP21-1	.	nonsynonymous SNV	KRTAP21-1:NM_181619:exon1:c.A227G:p.Y76C	.	427	1067	27	1	0	29	0.0134073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0010	0.00199681	0.0030	0.0002	0.0012	0.0001	0	0.0009	0.0055	0.0170	0.0025549	395	154602	rs148348278	0.0017	0.0017	0.0012	0.0023	0.0174	0.0017	0.0017	0.0167	0.0164	5.974e-05	0.0013	0.0014	2.519e-05	0	0.0104	0.0007	0.0019	0.0174	0.0012	0.0012	0.0008	0.0017	0.0122	0.0011	0.0010	0.0097	0.0088	0.0001	0	0.0029	0.0014	0	0	0	0.0010	0.0005	0.0122	0.0	0.91255	D	0.058	0.46182	T	0.008	0.14655	B	0.006	0.12133	B	.	.	.	.	0.999969	0.18878	N	.	.	.	.	.	.	-7.29	0.94457	D	0.6	0.61849	-1.0027	0.29139	T	0.073	0.29451	T	7	0.0084504485	0.00192	T	.	.	.	0.060	0.17295	.	.	0.130388298395	0.12655	0.05233386947642775	0.05175	0.0306325471804	0.03166	.	.	.	0.248699	0.61854	T	-0.413027	0.01898	T	-0.352435	0.38926	T	0.0423943778841176	0.04127	T	0.549145	0.18877	T	0.5183084	0.68162	0.5030433	0.71273	0.5183084	0.68163	0.5030433	0.71273	-2.464	0.05540	T	.	.	0.142	0.31151	B	.	.	2.593298	0.33647	19.40	0.84386920218165518	0.15262	0.02736	0.07409	N	AEFI	0.025934	0.01859	N	-0.700160313433485	0.16017	0.8124002	-0.721478876790158	0.16426	0.8689169	1.74057682139831E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.24	0.614	0.16778	0.098000	0.15027	-0.492000	0.08854	0.650000	0.52971	0.014000	0.18986	0.000000	0.08366	0.547000	0.30103	0.0:0.3482:0.0:0.6517	5.775	0.17542	572	0.70300	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013086	0.010101	0.008152	0.010753	0.000000	0.017241	0.000000	0.041985	0.02632	967.33	34	chr21	30755152	.	T	C	967.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.192;DP=697;ExcessHet=0;FS=3.349;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.72;MQRankSum=0;QD=12.9;ReadPosRankSum=1.49;SOR=0.34	GT:AD:DP:GQ:PL	0/1:36,39:75:99:981,0,884	18	0	1	0
chr21	34669926	34669926	G	T	exonic	CLIC6	.	nonsynonymous SNV	CLIC6:NM_001317009:exon1:c.G538T:p.V180L,CLIC6:NM_053277:exon1:c.G538T:p.V180L	.	389	1132	1	0	0	1	0.000441501	.	.	.	728886	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.003	.	.	0.00878594	0.0041	0.0403	0	0	0	0	0	0	0.0008409	130	154602	rs201318042	0.0007	0.0006	0.0008	0.0007	0.0321	0.0007	0.0007	0.0302	0.0294	0.0321	0.0021	0	0	0	0.0007	1.868e-05	0.0021	3.654e-05	0.0072	0.0075	0.0075	0.0070	0.0250	0.0069	0.0067	0.0238	0.0232	0.0250	0	0.0041	0	0	0	0	1.481e-05	0.0024	0	0.079	0.33753	T	0.037	0.52060	D	0.175	0.31720	B	0.021	0.21085	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.92	0.23688	T	-0.44	0.14588	N	0.112	0.09914	-1.0361	0.18513	T	0.032	0.13767	T	9	0.0026577115	0.00041	T	.	.	.	0.003	0.00094	0.131	0.03577	0.27132560031	0.26736	0.04638457602276165	0.04582	1.98523485117	0.93674	0.57008600235	0.48690	T	0.021592	0.16786	T	-0.66893	0.00056	T	-0.716062	0.04989	T	0.00476208155007176	0.00051	T	0.30297	0.05734	T	0.045821797	0.07565	0.063261785	0.12507	0.045821797	0.07564	0.063261785	0.12506	-7.591	0.58875	D	.	.	0.189	0.43032	B	.;.	.;.	0.569676	0.09383	6.162	0.8541067408982409	0.15876	0.02297	0.06607	N	AEFDBHCI	0.051152	0.09011	N	-1.08547090166654	0.06910	0.3194741	-1.17838721528614	0.06272	0.3013845	0.999999865719519	0.74766	0.59774	0.34471	0	0.52208	0.09955	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	3.2	-0.258	0.12334	-0.375000	0.07532	-0.246000	0.10547	0.322000	0.19397	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3257:0.0:0.5317:0.1427	4.737	0.12373	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	1	0	0.002634	0.005952	0.001412	0.002976	0.000000	0.000000	0.003185	0.003906	0.02778	709.71	33	chr21	34669926	.	G	T	709.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.67;DP=947;ExcessHet=0;FS=4.574;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=59.18;MQRankSum=0.551;QD=8.87;ReadPosRankSum=-0.36;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,29:80:99:0|1:34669904_G_C:723,0,1288:34669904	17	0	1	1
chr21	39423019	39423019	G	C	exonic	LCA5L	.	nonsynonymous SNV	LCA5L:NM_001384292:exon3:c.C404G:p.S135C,LCA5L:NM_001384294:exon3:c.C404G:p.S135C,LCA5L:NM_001384311:exon3:c.C404G:p.S135C,LCA5L:NM_001384295:exon4:c.C404G:p.S135C,LCA5L:NM_001384296:exon4:c.C404G:p.S135C,LCA5L:NM_001384304:exon4:c.C404G:p.S135C,LCA5L:NM_001384306:exon4:c.C404G:p.S135C,LCA5L:NM_001384307:exon4:c.C404G:p.S135C,LCA5L:NM_001384308:exon4:c.C404G:p.S135C,LCA5L:NM_001384309:exon4:c.C404G:p.S135C,LCA5L:NM_001384312:exon4:c.C404G:p.S135C,LCA5L:NM_001384285:exon5:c.C794G:p.S265C,LCA5L:NM_001384286:exon5:c.C794G:p.S265C,LCA5L:NM_001384287:exon5:c.C794G:p.S265C,LCA5L:NM_001384289:exon5:c.C794G:p.S265C,LCA5L:NM_001384291:exon5:c.C794G:p.S265C,LCA5L:NM_001384293:exon5:c.C404G:p.S135C,LCA5L:NM_001384298:exon5:c.C794G:p.S265C,LCA5L:NM_001384302:exon5:c.C794G:p.S265C,LCA5L:NM_001384303:exon5:c.C404G:p.S135C,LCA5L:NM_001384305:exon5:c.C404G:p.S135C,LCA5L:NM_001384310:exon5:c.C404G:p.S135C,LCA5L:NM_001384313:exon5:c.C404G:p.S135C,LCA5L:NM_001384288:exon6:c.C794G:p.S265C,LCA5L:NM_001384300:exon6:c.C794G:p.S265C,LCA5L:NM_001384301:exon6:c.C794G:p.S265C,LCA5L:NM_152505:exon6:c.C794G:p.S265C,LCA5L:NM_001384297:exon7:c.C794G:p.S265C,LCA5L:NM_001384299:exon7:c.C794G:p.S265C	.	452	1052	17	1	0	19	0.0089496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0711192466756	0.0046	0.00459265	0.0054	0.0064	0.0079	0	0.0014	0.0062	0.0077	0.0043	0.0052522	812	154602	rs143415723	0.0050	0.0051	0.0051	0.0050	0.0177	0.0049	0.0049	0.0149	0.0139	0.0077	0.0058	0.0088	0	0.0017	0.0177	0.0052	0.0050	0.0043	0.0055	0.0055	0.0054	0.0057	0.0065	0.0052	0.0051	0.0059	0.0056	0.0065	0	0.0050	0.0084	0	0.0021	0.0136	0.0061	0.0076	0.0019	0.027	0.46513	D	0.011	0.64786	D	1.0	0.90584	D	0.939	0.67449	D	0.122150	0.18967	N	0.546917	1	0.08975	N	2.75	0.80375	M	-1.17	0.78199	T	-2.45	0.53577	N	0.319	0.36569	-0.3461	0.73666	T	0.477	0.79940	T	10	0.0043971837	0.00089	T	0.071119	0.71185	D	0.274	0.59007	.	.	0.819326359246	0.81762	0.04914171614576398	0.04857	0.398422057467	0.40901	0.341563373804	0.16672	T	0.127921	0.54569	T	-0.371508	0.03519	T	-0.300872	0.44632	T	0.0428231754674634	0.04205	T	0.691131	0.31676	T	0.17131634	0.37757	0.12516536	0.30160	0.17131634	0.37757	0.12516536	0.30159	-4.173	0.26359	T	.	.	0.151	0.33389	B	.;.;.;.	.;.;.;.	3.668052	0.52141	23.2	0.97883977970749392	0.36621	0.89234	0.49577	D	AEFDBI	0.562037	0.56978	D	0.312320264162313	0.56782	3.843372	0.178086605997455	0.48647	3.077948	0.999997632529466	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.06	4.17	0.48303	4.887000	0.62848	8.514000	0.77400	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.835000	0.39381	0.0:0.0:0.7043:0.2957	12.909	0.57564	941	0.13089	Lebercilin domain;Lebercilin domain;Lebercilin domain;Lebercilin 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	0.017120	0.015152	0.020380	0.032164	0.000000	0.025862	0.009146	0.003788	0.05263	2754.83	33	chr21	39423019	.	G	C	2754.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.38;DP=824;ExcessHet=0.119;FS=1.758;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.186;SOR=0.832	GT:AD:DP:GQ:PL	0/1:55,50:105:99:1323,0,1495	17	0	2	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2032.79	96	chr21	41918930	.	C	G	2032.79	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.78;DP=1565;ExcessHet=17.0548;FS=105.468;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=0.897;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,10:72:80:0|1:41918930_C_G:80,0,2393:41918930	4	0	14	1
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	2022.74	96	chr21	41918931	.	C	G	2022.74	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.847;DP=1558;ExcessHet=17.0548;FS=106.404;InbreedingCoeff=-0.6166;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.13;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,10:72:80:0|1:41918930_C_G:80,0,2393:41918930	4	0	14	1
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	1945.18	98	chr21	41918933	.	C	G	1945.18	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.313;DP=1548;ExcessHet=17.0548;FS=103.494;InbreedingCoeff=-0.5813;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.61;ReadPosRankSum=1.16;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,10:70:86:0|1:41918930_C_G:86,0,2335:41918930	5	0	14	0
chr21	41918935	41918935	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53C:p.R18T,C2CD2:NM_015500:exon4:c.G518C:p.R173T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00493845236522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.15047	T	0.346	0.17696	T	0.651	0.40707	P	0.15	0.34161	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.92	0.23082	T	-2.45	0.53577	N	0.252	0.28498	-1.0300	0.20454	T	0.042	0.18118	T	10	0.07400718	0.11258	T	0.004938	0.12442	T	0.039	0.10176	0.274	0.22528	0.158396225186	0.15383	0.2792123094980505	0.27834	0.43111718306	0.43331	0.306925415993	0.11442	T	0.034186	0.23222	T	-0.204236	0.20195	T	-0.531148	0.19171	T	0.249620780348778	0.22856	T	0.616438	0.23595	T	0.05097029	0.09291	0.045770753	0.06232	0.05097029	0.09291	0.045770753	0.06231	-2.512	0.11262	T	.	.	0.089	0.12276	B	.;.	.;.	0.500997	0.08699	5.474	0.53906906178001035	0.05031	0.63413	0.32082	D	AEFGBCI	0.063035	0.12155	N	-0.949612951554288	0.09701	0.4602946	-1.04496436725723	0.08812	0.4351327	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	1392.83	97	chr21	41918935	.	C	G	1392.83	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.202;DP=1325;ExcessHet=5.3738;FS=99.62;InbreedingCoeff=-0.3104;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=1.47;SOR=9.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,8:68:54:0|1:41918930_C_G:54,0,2341:41918930	10	0	9	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	7112.35	76	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	*	7112.35	.	AC=5;AF=0.147;AN=34;BaseQRankSum=1.47;DP=1155;ExcessHet=0.0526;FS=1.3;InbreedingCoeff=0.3493;MLEAC=5;MLEAF=0.147;MQ=59.76;MQRankSum=0;QD=16.09;ReadPosRankSum=1.21;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,30:52:99:.:.:1834,835,1284:.	12	0	5	2
chr21	44435217	44435217	G	A	exonic	TRPM2	.	nonsynonymous SNV	TRPM2:NM_001320352:exon3:c.G104A:p.R35Q,TRPM2:NM_001320351:exon27:c.G3959A:p.R1320Q,TRPM2:NM_003307:exon28:c.G4061A:p.R1354Q,TRPM2:NM_001320350:exon29:c.G4211A:p.R1404Q	.	.	.	.	.	.	.	.	0.9999	0.97	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.616	.	.	.	5.885e-05	0	0	0	0	6.141e-05	0	0.0002	5.82e-05	9	154602	rs565804083	4.451e-05	4.446e-05	4.087e-05	4.818e-05	0.0002	3.578e-05	3.26e-05	8.89e-05	7.057e-05	0.0001	8.951e-05	0	0	0	0.0002	3.42e-05	8.292e-05	0.0002	7.23e-05	7.223e-05	8.993e-05	5.384e-05	0.0002	3.973e-05	3.128e-05	3.252e-05	1.916e-05	9.663e-05	0	0.0001	0	0	0	0	5.881e-05	0	0.0002	0.0	0.91255	D	0.011	0.67890	D	0.993	0.65571	D	0.557	0.51815	P	0.000001	0.62929	D	0.000000	0.997616	0.48800	D	3.58	0.93551	H	-1.21	0.78645	T	-1.43	0.35194	N	0.515	0.63544	0.307	0.87675	D	0.606	0.86026	D	10	0.70719075	0.72813	D	0.211687	0.87317	D	0.616	0.85039	.	.	0.679741279585	0.67702	0.8844391249080473	0.88411	0.520990641743	0.49885	0.407090604305	0.26054	T	0.451839	0.79240	T	-0.0316872	0.47173	T	0.00885585	0.70908	D	0.838408589363098	0.49197	D	0.818018	0.47523	T	0.4861223	0.66270	0.2443343	0.49898	0.4861223	0.66271	0.2443343	0.49897	-8.979	0.67562	D	.	.	0.227	0.48988	B	.;.;.;.;.	.;.;.;.;.	5.291836	0.88845	29.8	0.99911458683226539	0.98095	0.77913	0.38366	D	AEFDBI	0.349964	0.44358	N	0.478999502393882	0.65865	4.876526	0.396911122108135	0.61372	4.336626	0.991598455389351	0.32542	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.86	4.86	0.62624	2.076000	0.41172	6.197000	0.54843	-0.187000	0.09635	0.998000	0.41325	1.000000	0.68203	0.011000	0.09372	0.0907:0.0:0.9093:0.0	10.78	0.45572	840	0.37365	NUDIX hydrolase domain;NUDIX hydrolase domain;NUDIX hydrolase domain;.;NUDIX hydrolase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	1518.83	38	chr21	44435217	.	G	A	1518.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.03;DP=796;ExcessHet=0.119;FS=5.415;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.15;SOR=1.179	GT:AD:DP:GQ:PL	0/1:40,33:73:99:860,0,967	17	0	2	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	24382.0	387	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	24382.0	.	AC=12;AF=0.353;AN=34;BaseQRankSum=2.29;DP=6389;ExcessHet=1.4183;FS=0.542;InbreedingCoeff=-0.0358;MLEAC=13;MLEAF=0.382;MQ=59.94;MQRankSum=0;QD=5.44;ReadPosRankSum=0.634;SOR=0.786	GT:AD:DP:GQ:PL	0/1:184,153:337:99:5590,0,7089	7	2	8	2
chr21	46651833	46651833	C	T	exonic	PRMT2	.	nonsynonymous SNV	PRMT2:NM_001242865:exon7:c.C682T:p.L228F	.	388	1132	2	0	0	2	0.000882613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	0.00259585	0.0016	0.0002	8.741e-05	0	0	1.589e-05	0	0.0109	0.0012872	199	154602	rs545645082	0.0007	0.0007	0.0004	0.0010	0.0112	0.0007	0.0006	0.0106	0.0104	6.008e-05	0	0	0	0	0.0003	8.095e-06	0.0006	0.0112	0.0003	0.0003	0.0002	0.0005	0.0102	0.0003	0.0002	0.0079	0.0071	2.406e-05	0	0	0	0	0	0	0	0.0005	0.0102	0.529	0.07048	T	0.175	0.29945	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	0.82	0.01813	N	0.131	0.12627	-0.8917	0.48784	T	0.203	0.56045	T	5	0.004135251	0.00081	T	.	.	.	0.055	0.15663	0.55	0.66576	0.274431252636	0.27063	.	.	.	.	.	.	.	.	.	.	-0.56256	0.00245	T	-0.57146	0.15316	T	0.00944473802456525	0.00121	T	0.419458	0.11115	T	.	.	.	.	.	.	.	.	-6.954	0.53698	T	.	.	0.103	0.18539	B	.	.	0.247175	0.06266	2.723	0.68643644782358249	0.08721	0.00426	0.02096	N	AEFBI	0.031366	0.03344	N	-0.745750896918345	0.14749	0.7373589	-0.991133437262774	0.09984	0.500006	0.631509841830458	0.21972	0.833774	0.99917	0	0.702456	0.74545	0	0.0	0.00061	3	0.635551	0.53088	0	.	.	0.235	0.235	0.14697	-0.059000	0.11688	0.480000	0.18797	0.333000	0.19617	0.002000	0.15269	0.004000	0.18990	0.010000	0.09038	.	.	.	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	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1231.33	33	chr21	46651833	.	C	T	1231.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.961;DP=687;ExcessHet=0;FS=5.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.11;ReadPosRankSum=-1.213;SOR=0.275	GT:AD:DP:GQ:PL	0/1:24,44:68:99:1245,0,670	18	0	1	0
chr22	17119423	17119423	C	T	exonic	TMEM121B	.	nonsynonymous SNV	TMEM121B:NM_031890:exon1:c.G1705A:p.V569I,TMEM121B:NM_001163079:exon2:c.G640A:p.V214I	.	429	1061	32	0	0	32	0.0148561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0022	0.00758786	0.0108	0.0005	0.0036	0.0101	0.0067	0.0077	0.0091	0.0319	0.0062483	966	154602	rs149370082	0.0049	0.0049	0.0042	0.0056	0.0258	0.0048	0.0048	0.0249	0.0245	0.0007	0.0022	0.0032	0.0148	0.0033	0.0185	0.0032	0.0059	0.0258	0.0037	0.0037	0.0033	0.0041	0.0216	0.0035	0.0034	0.0182	0.0169	0.0006	0	0.0034	0.0029	0.0068	0.0041	0.0272	0.0040	0.0099	0.0216	0.02	0.49613	D	0.06	0.63918	T	0.911	0.50336	P	0.562	0.49608	P	0.001714	0.38216	U	0.102509	0.999895	0.50595	D	.	.	.	.	.	.	-0.85	0.23156	N	0.35	0.39153	-0.8482	0.52093	T	0.112	0.40168	T	9	0.008572459	0.00194	T	.	.	.	0.119	0.33137	.	.	0.104622674875	0.10061	0.7604217329728664	0.75990	.	.	0.522731900215	0.42011	T	0.047421	0.27718	T	-0.327575	0.06297	T	-0.223718	0.52378	T	0.0359863368657486	0.02978	T	0.79582	0.43907	T	0.12873021	0.30087	0.100857474	0.24128	0.12873021	0.30087	0.100857474	0.24127	-3.944	0.28872	T	.	.	0.166	0.44872	B	.;.	.;.	3.672644	0.52235	23.2	0.9957284842646853	0.72501	0.86897	0.46282	D	AEFBCI	0.761208	0.69899	D	0.372332812103338	0.59927	4.17648	0.397399947182225	0.61403	4.340084	0.999999999999899	0.74766	0.656854	0.48797	0	0.588066	0.40923	0	0.67347	0.61138	0	0.620976	0.48614	0	.	.	4.26	4.26	0.49832	5.151000	0.64720	5.885000	0.50690	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	0.0:1.0:0.0:0.0	16.210	0.81968	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017120	0.015152	0.012228	0.017544	0.000000	0.025862	0.015244	0.018939	0.05263	3678.81	35	chr22	17119423	.	C	T	3678.81	.	AC=2;AF=0.053;AN=38;DP=913;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.85;SOR=0.804	GT:AD:DP:GQ:PL	1/1:0,112:112:99:3706,336,0	18	1	0	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.7632	70360.4	209	chr22	18925165	.	A	G	70360.4	.	AC=29;AF=0.763;AN=38;BaseQRankSum=-1.068;DP=3050;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=24.25;ReadPosRankSum=0.274;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,181:181:99:.:.:5238,543,0:.	2	12	5	0
chr22	19180775	19180775	C	T	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon30:c.G4688A:p.R1563H,CLTCL1:NM_007098:exon31:c.G4859A:p.R1620H	.	419	1040	61	2	0	65	0.030303	.	.	.	2821919	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.156	.	0.0055	0.0179712	0.0120	0.0017	0.0049	0.0107	0.0005	0.0072	0.0122	0.0482	0.0115328	1783	154602	rs5748024	0.0095	0.0095	0.0084	0.0107	0.0458	0.0094	0.0093	0.0446	0.0441	0.0013	0.0064	0.0203	0.0067	0.0008	0.0279	0.0072	0.0106	0.0458	0.0072	0.0072	0.0068	0.0077	0.0495	0.0069	0.0067	0.0444	0.0424	0.0016	0.0285	0.0074	0.0187	0.0106	0.0004	0.0272	0.0074	0.0090	0.0495	0.054	0.38633	T	0.056	0.46632	T	0.016	0.17332	B	0.015	0.17295	B	0.178427	0.17170	N	0.540718	1	0.08975	N	1.815	0.47718	L	1.44	0.32722	T	-1.99	0.45949	N	0.099	0.08088	-0.9915	0.32218	T	0.081	0.31913	T	10	0.0017917454	0.00023	T	.	.	.	0.156	0.40720	.	.	.	.	0.4663343100944464	0.46552	.	.	0.175947144628	0.00062	T	0.205721	0.56486	T	-0.577031	0.00201	T	-0.567333	0.15694	T	0.0139584133045565	0.00268	T	0.857914	0.54891	D	0.027700981	0.02001	0.042738877	0.05158	0.023303073	0.01059	0.042738877	0.05158	-4.509	0.33765	T	0.4150719537382289	0.50475	0.066	0.10111	B	.;.;.;.	.;.;.;.	-0.399366	0.02216	0.222	0.90121329692522201	0.19402	0.13782	0.18049	N	AEFBI	0.223044	0.34745	N	-1.48063429334403	0.01986	0.08726487	-1.65069623804797	0.01372	0.06198492	0.999999830592746	0.74766	0.718356	0.82227	0	0.59043	0.45803	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	4.81	-5.85	0.02121	0.293000	0.18785	-5.817000	0.01586	-1.541000	0.00979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.9211:0.0:0.0789	18.122	0.89504	756	0.51065	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.019134	0.010101	0.016304	0.020468	0.100000	0.008621	0.009146	0.030303	0.07895	4732.79	34	chr22	19180775	.	C	T	4732.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.822;DP=951;ExcessHet=0.3672;FS=11.777;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-1.24;SOR=0.623	GT:AD:DP:GQ:PL	0/1:54,73:127:99:1897,0,1306	16	0	3	0
chr22	20241938	20241938	G	A	exonic	RTN4R	.	nonsynonymous SNV	RTN4R:NM_023004:exon2:c.C1195T:p.R399W	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.167384117218	.	0.000199681	0.0003	0	0.0016	0	0	0.0002	0	0	0.0002523	39	154602	rs200119628	0.0003	0.0003	0.0003	0.0003	0.0011	0.0003	0.0003	0.0008	0.0007	0.0001	0.0011	0	0	0	0.0005	0.0003	0.0003	8.121e-05	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0004	0.0001	0	0.0009	0	0	0	0	0.0002	0.0005	0	0.01	0.56456	D	0.018	0.59732	D	0.989	0.62824	D	0.409	0.44752	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	0.03	0.62183	T	-2.49	0.54217	N	0.27	0.30574	-0.9697	0.37262	T	0.123	0.42610	T	9	0.037017405	0.02032	T	0.167384	0.84576	D	0.135	0.36572	.	.	0.549678390736	0.54624	0.16852078956611685	0.16772	0.721910596354	0.62253	0.587508916855	0.51143	T	0.220964	0.58440	T	-0.347733	0.04871	T	-0.317823	0.42812	T	0.103888616897245	0.12779	T	0.861414	0.55526	D	0.09818275	0.23154	0.106306	0.25570	0.095000185	0.22349	0.11981584	0.28917	-5.015	0.37002	T	.	.	0.077	0.06341	B	.	.	3.057855	0.41054	21.3	0.99751805747742206	0.84305	0.08919	0.14774	N	AEFDBCI	0.148943	0.27293	N	-0.624821356137566	0.18200	0.9430401	-0.769725206443093	0.15238	0.8004297	0.998381016576764	0.36869	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.26	-0.409	0.11761	0.227000	0.17575	1.192000	0.24773	0.618000	0.50648	0.473000	0.26745	0.029000	0.21193	0.090000	0.17789	0.0:0.0:0.4352:0.5648	8.906	0.34685	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005102	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2930.33	33	chr22	20241938	.	G	A	2930.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.887;DP=858;ExcessHet=0;FS=0.536;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.613;SOR=0.619	GT:AD:DP:GQ:PL	0/1:85,112:197:99:2944,0,1912	18	0	1	0
chr22	20425413	20425413	C	G	exonic	SCARF2	.	nonsynonymous SNV	SCARF2:NM_153334:exon11:c.G2578C:p.A860P,SCARF2:NM_182895:exon11:c.G2563C:p.A855P	Van den Ende-Gupta syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.077699282921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.45530	T	.	.	.	.	.	.	0.000950	0.40932	U	0.096199	0.95703	0.26276	N	.	.	.	.	.	.	.	.	.	0.348	0.38950	-1.0829	0.06795	T	0.032	0.13854	T	10	0.17621931	0.32594	T	0.077699	0.72832	D	.	.	.	.	0.156986980423	0.15292	0.15910100263321458	0.15831	.	.	0.858976364136	0.90959	D	.	.	.	-0.0440095	0.45352	T	-0.300993	0.44621	T	0.670198917388916	0.39346	D	0.708829	0.31953	T	0.08012496	0.18344	0.14674436	0.34755	0.08012496	0.18344	0.14674436	0.34754	-3.319	0.14829	T	.	.	0.101	0.17700	B	.;.	.;.	2.652557	0.34540	19.66	0.99534457313765634	0.70087	0.30709	0.24152	N	AEFDBHI	0.120772	0.23510	N	-0.352770434450908	0.27171	1.488588	-0.364123416290488	0.26076	1.437993	0.999879846722447	0.44625	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	3.63	2.6	0.30173	0.747000	0.25956	2.351000	0.32314	-0.301000	0.06190	0.372000	0.25940	0.965000	0.29475	0.261000	0.23543	0.0:0.87:0.0:0.13	7.056	0.24276	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	233.33	21	chr22	20425413	.	C	G	233.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=597;ExcessHet=0;FS=1.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.29;ReadPosRankSum=-1.761;SOR=0.721	GT:AD:DP:GQ:PL	0/1:23,9:32:99:247,0,636	18	0	1	0
chr22	23765457	23765457	G	A	exonic	C22orf15	.	nonsynonymous SNV	C22orf15:NM_001376903:exon5:c.G421A:p.G141R	.	425	1055	41	1	0	43	0.0199721	0.0388	0.148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.00439297	0.0133	0	0	0	0	0.0161	0.0096	0.0172	0.0025614	396	154602	rs118072813	0.0075	0.0072	0.0071	0.0080	0.0179	0.0074	0.0074	0.0165	0.0162	0.0009	0.0035	0.0204	0	0.0009	0.0179	0.0073	0.0083	0.0173	0.0049	0.0049	0.0050	0.0048	0.0159	0.0046	0.0045	0.0131	0.0120	0.0013	0.0088	0.0033	0.0210	0.0002	0.0003	0.0068	0.0068	0.0071	0.0159	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	0.75	0.02007	N	0.185	0.20129	-1.0202	0.23649	T	0.034	0.14552	T	7	0.003980577	0.00077	T	0.005023	0.12690	T	0.123	0.34020	0.23	0.15705	0.180583059064	0.17676	.	.	.	.	.	.	.	.	.	.	-0.46172	0.00959	T	-0.421725	0.30877	T	0.0650722298416421	0.07942	T	0.520648	0.16939	T	.	.	.	.	.	.	.	.	-3.358	0.14497	T	.	.	0.169	0.37216	B	.	.	3.789766	0.54539	23.5	0.99848068375335886	0.92750	0.93845	0.59357	D	AEFDBHCI	0.264985	0.38221	N	-0.0526188822189248	0.39485	2.329274	-0.0561549082266573	0.37225	2.176699	0.99999999998708	0.74766	0.536635	0.22144	0	0.405561	0.06353	1	0.489635	0.07774	0	0.562822	0.20929	0	.	.	3.26	2.24	0.27264	2.197000	0.42329	1.175000	0.24653	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1331:0.0:0.8669:0.0	6.529	0.21518	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	4896.79	155	chr22	23765457	.	G	A	4896.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.31;DP=945;ExcessHet=0.3672;FS=3.316;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.788;SOR=0.857	GT:AD:DP:GQ:PL	0/1:71,59:130:99:1717,0,1972	16	0	3	0
chr22	24433553	24433553	C	T	exonic	ADORA2A	.	nonsynonymous SNV	ADORA2A:NM_000675:exon2:c.C149T:p.A50V,ADORA2A:NM_001278498:exon2:c.C149T:p.A50V,ADORA2A:NM_001278499:exon2:c.C149T:p.A50V,ADORA2A:NM_001278500:exon2:c.C149T:p.A50V,ADORA2A:NM_001278497:exon3:c.C149T:p.A50V	.	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	.	0.0085	0.0081869	0.0025	0.0255	0.0011	0	0	0.0004	0.0011	0.0002	0.0024256	375	154602	rs4530	0.0011	0.0011	0.0012	0.0010	0.0288	0.0010	0.0010	0.0273	0.0267	0.0288	0.0021	0	2.519e-05	0.0002	0.0055	0.0002	0.0029	0.0003	0.0074	0.0074	0.0079	0.0070	0.0250	0.0071	0.0069	0.0238	0.0232	0.0250	0	0.0038	0	0.0002	0.0003	0.0068	0.0003	0.0024	0.0006	1.0	0.00964	T	1.0	0.01155	T	0.32	0.32998	B	0.014	0.16862	B	0.000008	0.62929	N	0.110120	0.99976	0.48888	D	-2.055	0.00172	N	1.44	0.32722	T	1.16	0.01246	N	0.137	0.13769	-0.9954	0.31191	T	0.007	0.02282	T	10	0.009600729	0.00216	T	.	.	.	0.106	0.30130	.	.	0.378322506985	0.37446	0.3689382281795962	0.36807	0.531314514088	0.50634	0.544654846191	0.45103	T	0.154091	0.49522	T	-0.498228	0.00585	T	-0.468174	0.25713	T	0.00611521898484351	0.00067	T	0.815518	0.47957	T	0.31879142	0.54538	0.12881981	0.30985	0.31879142	0.54538	0.12881981	0.30984	-3.243	0.13013	T	.	.	0.070	0.13830	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.122366	0.15080	11.57	0.90020161409704924	0.19309	0.55051	0.29767	D	AEFGBCI	0.245286	0.36625	N	-0.812060228494362	0.13002	0.6375296	-0.596460235728347	0.19584	1.051431	0.999999197932359	0.74766	0.653281	0.48532	0	0.672317	0.65289	0	0.645312	0.48771	0	0.669	0.65921	0	.	.	4.53	3.46	0.38718	1.518000	0.35484	2.186000	0.31169	-0.313000	0.06017	0.912000	0.31733	0.977000	0.30130	0.372000	0.26156	0.0:0.9017:0.0:0.0983	10.834	0.45881	484	0.77165	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.010101	0.014946	0.011696	0.000000	0.008621	0.000000	0.000000	0.02632	2410.33	33	chr22	24433553	.	C	T	2410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.357;DP=780;ExcessHet=0;FS=8.006;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=-0.383;SOR=0.342	GT:AD:DP:GQ:PL	0/1:75,88:163:99:2424,0,1906	18	0	1	0
chr22	24441456	24441456	C	A	exonic	ADORA2A	.	nonsynonymous SNV	ADORA2A:NM_000675:exon3:c.C1206A:p.D402E,ADORA2A:NM_001278498:exon3:c.C1206A:p.D402E,ADORA2A:NM_001278499:exon3:c.C1206A:p.D402E,ADORA2A:NM_001278500:exon3:c.C1206A:p.D402E,ADORA2A:NM_001278497:exon4:c.C1206A:p.D402E	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0068	0.00798722	0.0025	0.0265	0.0012	0	0	0.0003	0.0014	0	0.0022639	350	154602	rs61729161	0.0010	0.0009	0.0011	0.0009	0.0290	0.0009	0.0009	0.0274	0.0268	0.0290	0.0024	0	0	0.0001	0.0053	0.0002	0.0027	2.833e-05	0.0073	0.0073	0.0077	0.0068	0.0246	0.0069	0.0068	0.0233	0.0228	0.0246	0	0.0038	0	0.0002	0.0003	0.0068	0.0002	0.0024	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.724677	0.06334	N	1.164370	1	0.08975	N	0.345	0.11182	N	-0.01	0.62762	T	0.16	0.05217	N	0.038	0.01740	-1.0598	0.11805	T	0.036	0.15640	T	10	0.0028060973	0.00044	T	.	.	.	0.054	0.15330	0.24	0.17218	0.353336612579	0.34937	0.2910699688909577	0.29019	0.497925038017	0.48277	0.392538130283	0.24026	T	0.181353	0.53299	T	-0.642097	0.00081	T	-0.675508	0.07260	T	0.0115686710098598	0.00175	T	0.423058	0.11286	T	0.026930822	0.01815	0.02849387	0.01090	0.026930822	0.01814	0.02849387	0.01090	-2.53	0.05990	T	.	.	0.087	0.11172	B	.;.;.;.	.;.;.;.	-0.630625	0.01489	0.093	0.78424646523036101	0.12295	0.03651	0.08906	N	AEFDBHCI	0.040774	0.06111	N	-1.28853125302668	0.03812	0.1709824	-1.38425872248931	0.03419	0.1594495	0.999999999949531	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.662433	0.64102	0	.	.	4.95	-9.14	0.00598	-1.616000	0.02156	-2.834000	0.03313	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.834000	0.39329	0.1889:0.2434:0.2801:0.2876	0.767	0.00953	480	0.77422	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009577	0.015152	0.013587	0.011696	0.000000	0.008621	0.000000	0.000000	0.02632	1080.33	41	chr22	24441456	.	C	A	1080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.252;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.752;SOR=0.734	GT:AD:DP:GQ:PL	0/1:37,42:79:99:1094,0,1018	18	0	1	0
chr22	27983491	27983495	AACCC	-	exonic	TTC28	.	frameshift deletion	TTC28:NM_001145418:exon23:c.6172_6176del:p.G2058Ffs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	333.29	34	chr22	27983490	.	AAACCC	A	333.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.681;DP=1519;ExcessHet=0;FS=84.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.09;ReadPosRankSum=1.91;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,20:108:99:0|1:27983490_AAACCC_A:347,0,3285:27983490	18	0	1	0
chr22	27983493	27983493	C	0	exonic	TTC28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	515.27	98	chr22	27983493	.	C	*	515.27	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-3.005;DP=1686;ExcessHet=2.0135;FS=178.168;InbreedingCoeff=-0.3571;MLEAC=1;MLEAF=0.045;MQ=60;MQRankSum=0;QD=0.88;ReadPosRankSum=1.8;SOR=9.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,20:108:99:0|1:27983490_AAACCC_A:347,0,3285:27983490	10	0	1	8
chr22	27983494	27983494	C	0	exonic	TTC28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	376.54	96	chr22	27983494	.	C	*	376.54	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-3.531;DP=1659;ExcessHet=1.3;FS=183.163;InbreedingCoeff=-0.2466;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=1.77;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,20:108:99:0|1:27983490_AAACCC_A:347,0,3285:27983490	13	0	1	5
chr22	27983495	27983495	-	GGGGG	exonic	TTC28	.	frameshift insertion	TTC28:NM_001145418:exon23:c.6171_6172insCCCCC:p.G2058Pfs*38	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1281.88	98	chr22	27983495	.	C	CGGGGG	1281.88	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.495;DP=1647;ExcessHet=2.9153;FS=208.381;InbreedingCoeff=-0.4601;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=1.61;SOR=9.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,20:104:99:0|1:27983490_AAACCC_A:359,0,3172:27983490	8	0	1	10
chr22	27983498	27983498	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6169C:p.E2057Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0199723920898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.561	0.09361	T	0.016	0.17332	B	0.007	0.12992	B	0.001741	0.38106	N	0.255201	0.999664	0.48141	D	1.61	0.41143	L	-2.75	0.90792	D	-0.96	0.25551	N	0.098	0.07949	-0.1657	0.78532	T	0.522	0.82173	D	10	0.13922808	0.26474	T	0.019972	0.42463	T	0.254	0.56428	0.077	0.00572	0.297718772494	0.29385	0.3465506712236305	0.34569	.	.	0.509008228779	0.40083	T	0.020964	0.16408	T	-0.0637236	0.42324	T	-0.329311	0.41547	T	0.442878986007673	0.30535	T	0.922208	0.71716	D	0.14186743	0.32671	0.079534285	0.17914	0.14186743	0.32671	0.079534285	0.17914	-5.497	0.41840	T	.	.	0.114	0.22680	B	.;.	.;.	3.175382	0.43079	21.7	0.99250051994185373	0.56858	0.98031	0.79020	D	AEFDBI	0.670435	0.63752	D	-0.234458581341143	0.31728	1.782017	-0.091052551517455	0.35758	2.072653	0.999902893327491	0.45458	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.62	2.26	0.27418	4.609000	0.60854	3.244000	0.36984	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.987000	0.62547	0.0:0.7066:0.2934:0.0	13.743	0.62343	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	.	.	.	.	.	.	.	.	0.02632	541.85	54	chr22	27983498	.	C	G	541.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.248;DP=1036;ExcessHet=0.119;FS=188.626;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.36;ReadPosRankSum=1.48;SOR=7.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,20:103:99:0|1:27983490_AAACCC_A:362,0,3095:27983490	18	0	1	0
chr22	28679629	28679629	G	A	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon1:c.C95T:p.S32L	.	1021	487	9	5	0	19	0.0191339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	.	.	.	0.0133	0.0133	0.0125	0.0164	0	0.0088	0.0106	0.0149	0.0008667	134	154602	rs188789710	0.0016	0.0056	0.0012	0.0021	0.0080	0.0016	0.0016	0.0071	0.0067	0.0020	0.0080	0.0024	0.0008	0.0022	0.0022	0.0013	0.0020	0.0046	6.586e-06	0.0002	0	1.347e-05	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.189	0.21224	T	0.328	0.18675	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.998512	0.22104	N	0	0.06538	N	-2.41	0.88533	D	0.3	0.04091	N	0.15	0.15328	-1.0451	0.15796	T	0.015	0.05897	T	9	0.0061965287	0.00140	T	.	.	.	0.191	0.46948	.	.	0.536616348568	0.53311	0.21171103643476952	0.21087	.	.	0.770100355148	0.77440	T	0.004587	0.03998	T	-0.0400364	0.45944	T	-0.295286	0.45220	T	0.0301324701786002	0.02010	T	0.49475	0.15329	T	0.08249074	0.19006	0.14541468	0.34488	0.08249074	0.19006	0.14541468	0.34487	-3.607	0.17958	T	.	.	0.081	0.08033	B	.	.	2.856784	0.37735	20.6	0.99176176324305476	0.54527	0.60032	0.31081	D	AEFDBHCIJ	0.265677	0.38275	N	-0.527271285642471	0.21203	1.123457	-0.432638929283547	0.24045	1.314578	0.999948451239031	0.47345	0.455138	0.09556	0	0.609123	0.50646	0	0.166054	0.03999	2	0.492483	0.08430	1	.	.	1.94	0.811	0.17881	2.139000	0.41773	2.200000	0.31279	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.3268:0.6732:0.0	6.048	0.18995	472	0.77968	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.033333	0.029412	0.104167	0.037037	0.125000	0.000000	0.007812	0.000000	0.03333	155.07	.	chr22	28679629	.	G	A	155.07	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-1.282;DP=48;ExcessHet=0;FS=0;InbreedingCoeff=-0.1267;MLEAC=1;MLEAF=0.033;MQ=52.96;MQRankSum=-1.282;QD=31.01;ReadPosRankSum=-1.282;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,4:5:30:0|1:28679629_G_A:165,0,30:28679629	14	0	1	4
chr22	29642202	29642202	G	A	exonic	NF2	.	nonsynonymous SNV	NF2:NM_181830:exon2:c.G115A:p.V39I,NF2:NM_181831:exon2:c.G115A:p.V39I,NF2:NM_181828:exon3:c.G238A:p.V80I,NF2:NM_181829:exon3:c.G241A:p.V81I,NF2:NM_000268:exon4:c.G364A:p.V122I,NF2:NM_016418:exon4:c.G364A:p.V122I,NF2:NM_181825:exon4:c.G364A:p.V122I,NF2:NM_181832:exon4:c.G364A:p.V122I,NF2:NM_181833:exon4:c.G364A:p.V122I	Meningioma, NF2-related, somatic;Neurofibromatosis, type 2, Autosomal dominant;Schwannomatosis, Autosomal dominant	.	.	.	.	.	.	.	0.9929	0.822	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.10155678394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.36912	T	0.266	0.54541	T	0.071	0.73220	B	0.198	0.88582	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.63	0.41750	L	-1.21	0.78645	T	-0.77	0.21429	N	0.565	0.62018	0.777	0.94128	D	0.848	0.94933	D	9	0.49941573	0.61459	T	0.101557	0.77451	D	0.387	0.70358	0.666	0.80401	0.705487273343	0.70292	0.33529918522572916	0.33442	0.65019096863	0.58310	0.73733651638	0.72580	T	0.385744	0.74706	T	0.121281	0.66500	D	-0.0635649	0.66081	T	0.706744417576149	0.41042	D	0.975736	0.94316	D	0.34140512	0.56391	0.31461927	0.57453	0.34140512	0.56391	0.31461927	0.57452	-5.428	0.54238	T	0.31497461163969354	0.41299	0.158	0.54587	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.361482	0.89912	31	0.99783329263226084	0.86955	0.98090	0.79513	D	AEFDGBHCI	0.881271	0.80850	D	0.615799937169805	0.74174	6.087939	0.691870599109843	0.81760	7.602917	1.0	0.98316	0.67177	0.52595	0	0.71359	0.82159	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.45	5.45	0.79688	9.817000	0.98283	9.897000	0.82319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.294	0.94103	623	0.65786	.;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;.;FERM central domain|FERM, N-terminal|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1422.33	39	chr22	29642202	.	G	A	1422.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.439;DP=796;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.385;SOR=0.698	GT:AD:DP:GQ:PL	0/1:69,59:128:99:1436,0,1759	18	0	1	0
chr22	30893490	30893490	G	C	exonic	OSBP2	.	nonsynonymous SNV	OSBP2:NM_001282742:exon8:c.G650C:p.S217T,OSBP2:NM_001282740:exon9:c.G917C:p.S306T,OSBP2:NM_001282741:exon9:c.G1244C:p.S415T,OSBP2:NM_001282739:exon10:c.G2015C:p.S672T,OSBP2:NM_030758:exon10:c.G2018C:p.S673T,OSBP2:NM_001282738:exon11:c.G1520C:p.S507T	.	429	1036	55	2	0	59	0.0276865	.	.	.	705879	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.069	.	0.0058	0.00559105	0.0075	0.0014	0.0054	0.0008	0.0027	0.0084	0.0067	0.0146	0.0074514	1152	154602	rs35988107	0.0075	0.0075	0.0072	0.0078	0.0203	0.0074	0.0073	0.0173	0.0162	0.0011	0.0039	0.0018	0.0008	0.0030	0.0203	0.0079	0.0066	0.0146	0.0047	0.0047	0.0048	0.0047	0.0137	0.0044	0.0043	0.0110	0.0101	0.0010	0	0.0025	0.0029	0.0012	0.0026	0.0170	0.0076	0.0038	0.0137	0.551	0.11406	T	0.627	0.11371	T	0.722	0.52538	P	0.646	0.53442	P	0.000000	0.84330	D	0.039087	1	0.81001	D	0.82	0.20857	L	1.62	0.28189	T	-1.82	0.43149	N	0.436	0.57775	-0.9404	0.42552	T	0.137	0.45260	T	10	0.009020358	0.00204	T	.	.	.	0.115	0.32236	.	.	0.616152070139	0.61304	0.47219143401444963	0.47138	1.33722759673	0.83768	0.670831441879	0.62956	T	0.01501	0.24677	T	-0.396612	0.02437	T	-0.330158	0.41451	T	0.023354836228443	0.01065	T	0.689931	0.30012	T	0.3401212	0.56290	0.2671612	0.52570	0.3401212	0.56290	0.2671612	0.52569	-10.391	0.77845	D	.	.	0.072	0.17827	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.192385	0.63195	24.6	0.9215383385114102	0.21514	0.98338	0.81774	D	AEFBI	0.662016	0.63203	D	0.296042627887522	0.55947	3.758913	0.410878477034044	0.62240	4.436314	0.999999818104789	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.663124	0.60104	0	0.683762	0.67416	0	.	.	5.19	5.19	0.71428	4.024000	0.56928	4.518000	0.43675	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.501	0.90829	600	0.68026	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.005051	0.008152	0.043860	0.000000	0.017241	0.024390	0.018939	0.07895	6852.77	161	chr22	30893490	.	G	C	6852.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.113;DP=907;ExcessHet=0;FS=0.527;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=23.07;ReadPosRankSum=-1.84;SOR=0.778	GT:AD:DP:GQ:PL	0/1:66,70:136:99:1789,0,1692	17	1	1	0
chr22	30893904	30893904	A	G	exonic	OSBP2	.	nonsynonymous SNV	OSBP2:NM_001282742:exon10:c.A910G:p.M304V,OSBP2:NM_001282740:exon11:c.A1177G:p.M393V,OSBP2:NM_001282741:exon11:c.A1504G:p.M502V,OSBP2:NM_001282739:exon12:c.A2275G:p.M759V,OSBP2:NM_030758:exon12:c.A2278G:p.M760V,OSBP2:NM_001282738:exon13:c.A1780G:p.M594V	.	420	1044	56	2	0	60	0.027933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0060	0.00599042	0.0133	0.0028	0.0158	0.0018	0.0046	0.0149	0.0086	0.0189	0.0069921	1081	154602	rs34240867	0.0077	0.0077	0.0073	0.0080	0.0206	0.0075	0.0075	0.0176	0.0164	0.0024	0.0039	0.0018	0.0008	0.0029	0.0206	0.0079	0.0070	0.0159	0.0050	0.0050	0.0050	0.0050	0.0168	0.0047	0.0046	0.0138	0.0127	0.0017	0	0.0025	0.0029	0.0012	0.0027	0.0170	0.0076	0.0038	0.0168	0.999	0.02412	T	0.992	0.02917	T	0.0	0.02946	B	0.001	0.04355	B	0.107638	0.19562	N	0.526269	0.999863	0.19989	N	-0.625	0.02162	N	1.61	0.28391	T	1.2	0.01213	N	0.07	0.06854	-1.0257	0.21853	T	0.015	0.06234	T	10	0.0027489364	0.00043	T	.	.	.	0.017	0.02790	.	.	0.303781844768	0.29979	0.1894865147558149	0.18866	0.559266118896	0.52473	0.47786283493	0.35762	T	0.001929	0.10097	T	-0.644937	0.00078	T	-0.68621	0.06611	T	0.000873943526979934	0.00008	T	0.122088	0.00949	T	0.04647788	0.07784	0.05229954	0.08589	0.04647788	0.07783	0.05229954	0.08588	3.517	0.00015	T	.	.	0.045	0.00165	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.214570	0.05978	2.417	0.75529492578270707	0.11110	0.29702	0.23891	N	AEFBI	0.055078	0.10069	N	-1.07926312379528	0.07026	0.3251849	-0.916998914620541	0.11693	0.5972872	0.930902025339493	0.27026	0.722319	0.85440	0	0.546412	0.12157	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	5.26	1.95	0.25130	0.880000	0.27798	0.945000	0.22881	-0.103000	0.15852	0.613000	0.27855	0.340000	0.24418	0.515000	0.29359	0.2081:0.1218:0.6701:0.0	7.269	0.25420	600	0.68026	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016129	0.005102	0.008152	0.043860	0.000000	0.017241	0.024390	0.022727	0.07895	7269.77	180	chr22	30893904	.	A	G	7269.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.453;DP=914;ExcessHet=0;FS=0.571;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=23.84;ReadPosRankSum=1.23;SOR=0.613	GT:AD:DP:GQ:PL	0/1:50,75:125:99:1946,0,1285	17	1	1	0
chr22	31713314	31713314	C	A	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon4:c.G4525T:p.A1509S	.	430	1082	9	1	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0101	0.00958466	0.0054	0.0292	0.0047	0	0	0.0005	0	0.0058	0.0013389	207	154602	rs111610929	0.0014	0.0013	0.0013	0.0015	0.0247	0.0013	0.0013	0.0232	0.0226	0.0247	0.0015	0	0	0	0.0040	0.0003	0.0029	0.0074	0.0080	0.0081	0.0082	0.0078	0.0263	0.0077	0.0075	0.0250	0.0244	0.0263	0	0.0031	0.0003	0	0	0.0102	0.0004	0.0062	0.0083	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.971	0.72444	D	0.003780	0.34511	N	0.128239	0.756551	0.29583	N	2.32	0.66415	M	2.82	0.10871	T	-1.73	0.41046	N	0.407	0.44761	-1.1852	0.00299	T	0.023	0.09696	T	9	0.00902009	0.00204	T	.	.	.	0.069	0.20116	.	.	0.134007934775	0.12933	0.08820599583679595	0.08753	0.387473203465	0.40026	0.281805515289	0.07745	T	0.047676	0.27794	T	-0.463528	0.00934	T	-0.417653	0.31345	T	0.00904196432076067	0.00113	T	0.723028	0.33655	T	0.14800593	0.33809	0.11590867	0.27980	0.14800593	0.33808	0.11590867	0.27979	-2.573	0.06300	T	.	.	0.157	0.34732	B	.	.	3.449361	0.48019	22.5	0.99779304795779566	0.86606	0.95350	0.64378	D	AEFBI	0.344382	0.43989	N	0.536973374759774	0.69291	5.336347	0.511429054504697	0.68756	5.264476	0.50359479843835	0.20963	0.719381	0.83141	0	0.724815	0.89359	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	5.59	4.37	0.51830	3.281000	0.51389	3.239000	0.36954	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.712000	0.34516	0.0:0.9094:0.0:0.0906	12.622	0.55964	155	0.93937	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007246	0.010526	0.000000	0.000000	0.000000	0.000000	0.017442	0.011905	0.02632	2920.33	123	chr22	31713314	.	C	A	2920.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=1025;ExcessHet=0;FS=3.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=-1.202;SOR=0.976	GT:AD:DP:GQ:PL	0/1:70,94:164:99:2934,0,1842	18	0	1	0
chr22	31714388	31714388	A	G	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon4:c.T3451C:p.S1151P	.	427	1087	7	1	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0120	0.0105831	0.0057	0.0310	0.0049	0	0	0.0006	0	0.0064	0.001423	220	154602	rs12159328	0.0015	0.0014	0.0014	0.0016	0.0286	0.0014	0.0014	0.0270	0.0264	0.0286	0.0016	0	0	0	0.0044	0.0003	0.0032	0.0077	0.0092	0.0092	0.0094	0.0090	0.0300	0.0088	0.0086	0.0286	0.0280	0.0300	0	0.0041	0.0003	0	0	0.0102	0.0004	0.0080	0.0083	0.094	0.31383	T	0.115	0.36630	T	0.412	0.35138	B	0.104	0.31021	B	0.387181	0.13307	N	0.686177	0.999999	0.08975	N	0.63	0.15941	N	2.71	0.12055	T	-2.19	0.49352	N	0.102	0.08506	-1.0105	0.26760	T	0.007	0.02439	T	9	0.0026658177	0.00041	T	.	.	.	0.018	0.03083	.	.	0.0675242888579	0.06100	0.27087145557327946	0.27000	0.0854793780599	0.09655	0.24475556612	0.03235	T	0.006211	0.05647	T	-0.681484	0.00047	T	-0.728684	0.04387	T	0.011733405300201	0.00180	T	0.575442	0.20674	T	0.25402394	0.48428	0.33928657	0.59696	0.25402394	0.48428	0.33928657	0.59695	-4.681	0.33173	T	.	.	0.123	0.25882	B	.	.	1.319620	0.17233	13.04	0.96391652609380274	0.29654	0.08541	0.14456	N	AEFBI	0.087770	0.17795	N	-0.715137179691489	0.15596	0.7873753	-0.777503103524036	0.15046	0.7894075	0.0681237174698843	0.15448	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.52	2.25	0.27340	0.014000	0.13228	2.149000	0.30898	0.665000	0.62972	0.000000	0.06391	0.254000	0.23938	0.063000	0.16184	0.7461:0.0:0.2539:0.0	7.412	0.26196	155	0.93937	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007444	0.010638	0.000000	0.000000	0.000000	0.000000	0.011765	0.012821	0.02632	2534.33	104	chr22	31714388	.	A	G	2534.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.368;DP=1200;ExcessHet=0;FS=1.154;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.068;SOR=0.574	GT:AD:DP:GQ:PL	0/1:92,90:182:99:2548,0,2555	18	0	1	0
chr22	31715032	31715032	G	A	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon4:c.C2807T:p.P936L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.259640056722	.	.	4.453e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs751612986	6.431e-06	6.156e-06	4.23e-06	8.692e-06	5.048e-05	3.03e-06	2.19e-06	1.678e-05	9.94e-06	0	0	0	0	0	0	4.634e-06	0	5.048e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.02	0.58613	D	1.0	0.90584	D	1.0	0.97372	D	0.000085	0.51296	D	0.000000	0.999974	0.58761	D	2.175	0.60977	M	1.44	0.32722	T	-5.15	0.83357	D	0.204	0.22614	-0.8532	0.51746	T	0.199	0.55400	T	9	0.27083766	0.44618	T	0.25964	0.89454	D	0.271	0.58633	0.472	0.54699	0.102598925029	0.09809	0.35508517343502455	0.35422	0.408351417736	0.41678	0.376370131969	0.21742	T	0.069284	0.33671	T	-0.10844	0.35027	T	-0.265765	0.48246	T	0.981076836585999	0.73707	D	0.711829	0.32321	T	0.5741625	0.71288	0.63400996	0.78639	0.5741625	0.71289	0.63400996	0.78640	-3.119	0.11516	T	.	.	0.131	0.28057	B	.	.	3.641002	0.51624	23.1	0.99869586562415491	0.94726	0.78003	0.38422	D	AEFBCI	0.219039	0.34397	N	0.480161038690342	0.65932	4.885204	0.436748409861556	0.63871	4.629633	0.999999157362227	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.692231	0.68500	0	.	.	5.42	5.42	0.78666	2.964000	0.48885	7.573000	0.60761	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	0.0:0.0:1.0:0.0	15.971	0.79815	155	0.93937	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2797.33	104	chr22	31715032	.	G	A	2797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=1201;ExcessHet=0;FS=0.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.152;SOR=0.652	GT:AD:DP:GQ:PL	0/1:95,101:196:99:2811,0,2471	18	0	1	0
chr22	31716880	31716880	T	C	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon4:c.A959G:p.N320S	.	425	1087	9	1	0	11	0.00503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0123	0.0105831	0.0058	0.0317	0.0048	0	0	0.0005	0	0.0064	0.0014618	226	154602	rs75240208	0.0015	0.0015	0.0014	0.0016	0.0294	0.0015	0.0014	0.0278	0.0272	0.0294	0.0016	0	2.798e-05	0	0.0044	0.0003	0.0032	0.0077	0.0095	0.0095	0.0097	0.0092	0.0310	0.0091	0.0089	0.0296	0.0291	0.0310	0	0.0041	0.0003	0	0	0.0103	0.0004	0.0080	0.0085	0.151	0.24564	T	0.506	0.10967	T	0.008	0.14655	B	0.007	0.12992	B	0.587213	0.05570	N	1.231740	1	0.08975	N	1.1	0.28011	L	3.43	0.05440	T	-1.14	0.29323	N	0.084	0.06059	-0.9249	0.44872	T	0.003	0.00897	T	10	0.003006637	0.00049	T	.	.	.	0.059	0.16972	.	.	0.110392049598	0.10638	0.025821391941460544	0.02533	0.0632696166235	0.07043	0.194682449102	0.00319	T	0.002393	0.01788	T	-0.726004	0.00025	T	-0.791946	0.02111	T	0.00930232295976571	0.00118	T	0.561544	0.19673	T	0.031043293	0.02873	0.027864954	0.00973	0.031043293	0.02873	0.027864954	0.00973	-2.144	0.03778	T	.	.	0.082	0.08657	B	.	.	-0.699063	0.01322	0.072	0.22428123338613901	0.00902	0.16723	0.19519	N	AEFBI	0.069732	0.13816	N	-1.10839004960357	0.06493	0.29905	-1.14242549578103	0.06905	0.3339699	0.0531273631071764	0.14928	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.09	-1.57	0.08055	-0.140000	0.10323	-0.121000	0.11721	0.665000	0.62972	0.011000	0.18532	0.000000	0.08366	0.066000	0.16387	0.1294:0.2579:0.13:0.4827	1.694	0.02686	156	0.93906	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007371	0.010638	0.000000	0.000000	0.000000	0.000000	0.011628	0.012500	0.02632	2831.33	158	chr22	31716880	.	T	C	2831.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.23;DP=991;ExcessHet=0;FS=3.971;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-1.55;SOR=0.961	GT:AD:DP:GQ:PL	0/1:103,99:202:99:2845,0,2839	18	0	1	0
chr22	36265782	36265782	G	T	exonic	APOL1	.	stopgain	APOL1:NM_001136541:exon5:c.G892T:p.E298X,APOL1:NM_001362927:exon5:c.G892T:p.E298X,APOL1:NM_001136540:exon6:c.G946T:p.E316X,APOL1:NM_003661:exon6:c.G946T:p.E316X,APOL1:NM_145343:exon7:c.G994T:p.E332X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617745	0.05738	N	1.200530	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.79	0.78737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	5.111238	0.85445	28.6	0.94747486642744438	0.25445	0.01550	0.05082	N	AEFDBI	0.051060	0.08984	N	-0.28464942149091	0.29742	1.651984	-0.709861734847565	0.16715	0.8855342	0.64071294737418	0.22051	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-2.28	0.06438	-1.743000	0.01933	-20.000000	0.00162	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4028:0.0:0.402:0.1951	3.413	0.06937	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	3097.37	197	chr22	36265782	.	G	T	3097.37	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-4.003;DP=2840;ExcessHet=1.3;FS=138.063;InbreedingCoeff=-0.171;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=3.43;ReadPosRankSum=1.24;SOR=11.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:144,50:194:99:.:.:1034,0,4639:.	13	0	5	1
chr22	36265787	36265787	G	T	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G897T:p.Q299H,APOL1:NM_001362927:exon5:c.G897T:p.Q299H,APOL1:NM_001136540:exon6:c.G951T:p.Q317H,APOL1:NM_003661:exon6:c.G951T:p.Q317H,APOL1:NM_145343:exon7:c.G999T:p.Q333H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00174566368718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.05	0.50514	T	0.832	0.46138	P	0.6	0.50752	P	0.486182	0.05010	N	1.272740	1	0.08975	N	1.98	0.53716	M	3.59	0.04544	T	-3.32	0.66085	D	0.056	0.07262	-0.9872	0.33298	T	0.028	0.11926	T	10	0.41554847	0.56516	T	0.001746	0.02934	T	0.076	0.22200	0.787	0.90993	0.536147182381	0.53264	0.1934163824026781	0.19259	0.198314738213	0.22208	0.238215714693	0.02632	T	0.036324	0.24062	T	-0.28305	0.10346	T	-0.644358	0.09354	T	0.571350753307343	0.35286	D	0.882812	0.60417	D	0.09095966	0.21301	0.08753992	0.20354	0.09095966	0.21301	0.08753992	0.20354	-4.203	0.26795	T	.	.	0.158	0.37293	B	.;.;.;.;.	.;.;.;.;.	1.086071	0.14694	11.25	0.98800888467532288	0.46445	0.06423	0.12427	N	AEFDBI	0.210716	0.33657	N	-0.470422674084812	0.23054	1.235307	-0.693552490859705	0.17120	0.908959	0.445296783057563	0.20490	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	0.676	0.17125	0.445000	0.21392	-1.627000	0.05032	-0.298000	0.06216	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.5404:0.4596	7.454	0.26427	489	0.76795	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1343.83	191	chr22	36265787	.	G	T	1343.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.609;DP=2757;ExcessHet=0.119;FS=303.861;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=3.66;ReadPosRankSum=1.28;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:155,39:194:99:.:.:507,0,5698:.	17	0	2	0
chr22	37497164	37497164	C	T	exonic	CARD10	.	nonsynonymous SNV	CARD10:NM_014550:exon12:c.G1802A:p.R601Q	.	426	1094	2	0	0	2	0.000913242	.	.	.	2282026	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.00644368060476	0.0002	0.000599042	0.0002	0.0005	0.0002	0	0	0.0002	0.0011	0.0001	0.0001876	29	154602	rs201423754	0.0001	0.0001	9.672e-05	0.0001	0.0063	0.0001	0.0001	0.0046	0.0041	0.0010	8.996e-05	0	2.519e-05	0	0.0063	7.017e-05	0.0004	4.643e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0.0003	0	0.0002	0	0	0	0	0.0001	0.0005	0.0002	0.337	0.22833	T	0.565	0.11899	T	0.031	0.20130	B	0.003	0.08700	B	0.941185	0.07595	N	1.026640	0.999997	0.08975	N	0.205	0.09354	N	0.85	0.47130	T	0.1	0.45769	N	0.126	0.12484	-1.0257	0.21853	T	0.057	0.23942	T	10	0.020336926	0.00467	T	0.006444	0.16956	T	0.070	0.20419	.	.	0.481246930725	0.47757	0.30866322282472947	0.30779	0.369645273994	0.38492	0.353287875652	0.18405	T	0.103453	0.41211	T	-0.490884	0.00642	T	-0.612896	0.11751	T	0.00985210732312693	0.00130	T	0.829117	0.49388	T	0.02061821	0.00626	0.02320931	0.00335	0.02061821	0.00626	0.02320931	0.00335	-2.599	0.07839	T	.	.	0.074	0.20896	B	.;.;.;.;.	.;.;.;.;.	1.358379	0.17667	13.30	0.97775910339110628	0.35900	0.06690	0.12710	N	ALL	0.073169	0.14625	N	-0.872646494442306	0.11496	0.555101	-0.789994731147985	0.14741	0.7717698	0.999999998867823	0.74766	0.730579	0.87903	0	0.59043	0.45803	0	0.570548	0.19454	0	0.648885	0.59868	0	.	.	5.52	0.747	0.17520	0.168000	0.16438	1.424000	0.26389	0.599000	0.40250	0.083000	0.22414	0.844000	0.27327	0.574000	0.30748	0.0:0.4651:0.3332:0.2017	4.812	0.12715	923	0.18507	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.005051	0.005435	0.008772	0.000000	0.017241	0.000000	0.003788	0.02632	1205.33	33	chr22	37497164	.	C	T	1205.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.994;DP=721;ExcessHet=0;FS=2.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.25;SOR=0.479	GT:AD:DP:GQ:PL	0/1:58,50:108:99:1219,0,1317	18	0	1	0
chr22	41813782	41813782	A	T	exonic	CCDC134	.	nonsynonymous SNV	CCDC134:NM_024821:exon6:c.A524T:p.D175V,CCDC134:NM_001382346:exon7:c.A524T:p.D175V	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0206829485802	0.0003	0.000199681	0.0012	0	0.0003	0	0	0.0012	0.0011	0.0036	0.0010155	157	154602	rs151203017	0.0007	0.0007	0.0005	0.0009	0.0038	0.0006	0.0006	0.0035	0.0033	5.974e-05	0.0002	0.0143	0	0	0.0023	0.0001	0.0012	0.0038	0.0005	0.0005	0.0004	0.0006	0.0031	0.0004	0.0004	0.0019	0.0016	2.41e-05	0	6.546e-05	0.0121	0	0	0	0.0002	0.0005	0.0031	0.01	0.56456	D	0.052	0.47581	T	0.493	0.37004	P	0.107	0.31211	B	0.019745	0.27189	N	0.423208	0.999993	0.81001	D	1.7	0.43825	L	.	.	.	-4.61	0.79060	D	0.502	0.53445	-0.8214	0.53846	T	0.145	0.46914	T	9	0.006341845	0.00143	T	0.020683	0.43322	T	0.082	0.23913	.	.	0.487843537783	0.48417	0.5330830512084455	0.53233	0.289485884508	0.31360	0.287414848804	0.08547	T	0.295121	0.66779	T	-0.32735	0.06314	T	-0.243831	0.50424	T	0.0872409145090764	0.10887	T	0.909009	0.67793	D	0.29373586	0.52338	0.30163816	0.56196	0.29373586	0.52338	0.30163816	0.56195	-4.196	0.26694	T	0.4325797007769283	0.51946	0.183	0.39731	B	.	.	3.712519	0.53010	23.3	0.98842423156921733	0.47152	0.92217	0.55207	D	AEFDBI	0.335894	0.43419	N	0.205313860820261	0.51457	3.326705	0.322494788818716	0.56866	3.850502	0.999965218079951	0.48965	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.79	4.73	0.59485	4.644000	0.61092	6.478000	0.55730	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.6228:0.3772:0.0:0.0	10.777	0.45554	111	0.95468	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	2260.33	37	chr22	41813782	.	A	T	2260.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.18;DP=846;ExcessHet=0;FS=2.593;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.358;SOR=0.791	GT:AD:DP:GQ:PL	0/1:85,95:180:99:2274,0,2188	18	0	1	0
chr22	41877959	41877959	G	A	exonic	SREBF2	.	nonsynonymous SNV	SREBF2:NM_004599:exon9:c.G1597A:p.D533N	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.013021043727	0.0003	0.000199681	0.0012	0	0.0003	0	0	0.0013	0.0011	0.0035	0.0010284	159	154602	rs200675940	0.0007	0.0007	0.0005	0.0009	0.0038	0.0007	0.0007	0.0034	0.0033	5.974e-05	0.0002	0.0143	2.519e-05	0	0.0023	0.0002	0.0013	0.0038	0.0005	0.0005	0.0005	0.0006	0.0031	0.0005	0.0004	0.0019	0.0016	4.814e-05	0	6.538e-05	0.0121	0	0	0.0034	0.0003	0.0005	0.0031	0.119	0.28026	T	0.371	0.17531	T	0.304	0.32663	B	0.05	0.25278	B	0.002044	0.37364	N	0.328449	0.946043	0.37512	D	1.525	0.38595	L	0.59	0.53943	T	-1.16	0.29727	N	0.235	0.26475	-0.9975	0.30618	T	0.108	0.39147	T	10	0.007961154	0.00181	T	0.013021	0.32090	T	0.038	0.09825	.	.	0.330131851566	0.32626	0.585276827951278	0.58457	0.2669790586	0.29234	0.367544054985	0.20479	T	0.019615	0.62447	T	-0.470228	0.00847	T	-0.449382	0.27766	T	0.0132245294351331	0.00235	T	0.827917	0.50550	T	0.072273575	0.16065	0.07840607	0.17557	0.072273575	0.16064	0.07840607	0.17556	-5.395	0.40871	T	.	.	0.123	0.25624	B	.;.	.;.	3.255703	0.44502	21.9	0.9961262075412689	0.74932	0.93841	0.59346	D	AEFDBCI	0.484979	0.52477	N	-0.141338504293217	0.35604	2.047	-0.00497575899463286	0.39489	2.34224	0.982959365155507	0.30481	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.96	3.95	0.44952	3.210000	0.50832	7.654000	0.63860	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0768:0.0:0.9232:0.0	13.073	0.58484	126	0.94940	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.007576	0.02632	1922.33	40	chr22	41877959	.	G	A	1922.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.449;DP=779;ExcessHet=0;FS=1.331;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.485;SOR=0.56	GT:AD:DP:GQ:PL	0/1:71,72:143:99:1936,0,1883	18	0	1	0
chr22	43161186	43161186	G	T	exonic	TSPO	.	nonsynonymous SNV	TSPO:NM_000714:exon3:c.G317T:p.G106V,TSPO:NM_001256530:exon3:c.G317T:p.G106V,TSPO:NM_001256531:exon3:c.G317T:p.G106V	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0239518547675	0.0002	.	5.853e-05	0.0005	0	0	0	1.513e-05	0	6.482e-05	4.53e-05	7	154602	rs143915407	3.493e-05	3.489e-05	3.951e-05	3.03e-05	0.0013	2.7e-05	2.441e-05	0.0010	0.0009	0.0013	2.246e-05	0	0	0	0	2.7e-06	4.977e-05	1.161e-05	0.0002	0.0002	0.0002	0.0003	0.0007	0.0002	0.0001	0.0005	0.0004	0.0007	0	0	0	0	0	0	0	0.0014	0	0.052	0.61437	T	0.02	0.92824	D	0.988	0.62325	D	0.885	0.62825	P	0.000113	0.50451	D	0.211384	1	0.81001	D	.	.	.	0.96	0.42888	T	-2.82	0.59545	D	0.793	0.78927	-0.6251	0.63777	T	0.251	0.62050	T	10	0.28507313	0.46089	T	0.023952	0.46930	T	0.142	0.37995	.	.	0.713342169113	0.71083	0.6402821541742774	0.63963	0.769811145907	0.64707	0.556881010532	0.46827	T	0.051075	0.28777	T	-0.29134	0.09503	T	-0.226644	0.52096	T	0.498095035552979	0.32560	T	0.750625	0.66542	T	0.553942	0.70175	0.51947045	0.72236	0.553942	0.70176	0.51947045	0.72237	-10.173	0.74941	D	.	.	0.256	0.52801	B	.;.;.;.;.	.;.;.;.;.	4.520207	0.70871	25.6	0.99788992379600305	0.87484	0.93645	0.58787	D	AEFBCI	0.900986	0.84716	D	0.75958520103579	0.83528	8.040964	0.738828796215673	0.85318	8.545439	0.999998460292732	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.2	5.2	0.71720	7.367000	0.78814	11.624000	0.93645	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	18.739	0.91732	819	0.41190	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	839.33	34	chr22	43161186	.	G	T	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.417;DP=660;ExcessHet=0;FS=2.675;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=1.66;SOR=1.179	GT:AD:DP:GQ:PL	0/1:22,30:52:99:853,0,614	18	0	1	0
chr22	43212440	43212440	C	T	exonic	SCUBE1	.	nonsynonymous SNV	SCUBE1:NM_173050:exon17:c.G2206A:p.D736N	.	433	1087	2	0	0	2	0.000919118	.	.	.	3314124	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.163	0.0172014454411	.	0.000199681	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs570778063	2.072e-05	2.257e-05	2.398e-05	1.738e-05	0.0002	1.454e-05	1.257e-05	2.443e-05	1.538e-05	0	0	0	0	0	0.0002	1.853e-05	5.176e-05	6.31e-05	1.969e-05	1.968e-05	0	4.027e-05	0.0001	5.24e-06	2.45e-06	2.257e-05	9.06e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0	0.039	0.42487	D	0.021	0.58089	D	0.06	0.23119	B	0.163	0.34892	B	0.000000	0.84330	D	0.044701	1	0.81001	D	1.85	0.49092	L	2.28	0.17271	T	-3.32	0.66085	D	0.759	0.75742	-1.0767	0.08003	T	0.056	0.23639	T	10	0.5777143	0.65674	D	0.017201	0.38801	T	0.163	0.42028	0.623	0.75803	0.648919026165	0.64600	0.47800619823244367	0.47720	1.44904736646	0.86117	0.650685966015	0.60082	T	0.282957	0.65571	T	-0.359596	0.04153	T	-0.558676	0.16501	T	0.412626326084137	0.29416	T	0.965303	0.87188	D	0.4270698	0.62560	0.37598866	0.62731	0.4270698	0.62560	0.37598866	0.62730	-6.528	0.50502	T	.	.	0.117	0.23570	B	.	.	4.286226	0.65326	24.8	0.99891228652732589	0.96513	0.97571	0.75624	D	AEFBI	0.884437	0.81412	D	0.0364286456821212	0.43519	2.643245	0.116253219162571	0.45380	2.802159	0.999999861084352	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.12	4.12	0.47504	7.494000	0.80344	7.553000	0.60314	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:1.0:0.0:0.0	16.93	0.86058	686	0.59327	Tyrosine-protein kinase ephrin type A/B receptor-like|EGF-like domain|Tyrosine-protein kinase ephrin type A/B receptor-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	.	.	.	.	.	.	.	.	0.02632	733.33	44	chr22	43212440	.	C	T	733.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.32;DP=719;ExcessHet=0;FS=0.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-1.774;SOR=0.84	GT:AD:DP:GQ:PL	0/1:28,33:61:99:747,0,642	18	0	1	0
chr22	46536243	46536243	C	T	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon1:c.G928A:p.V310I,CELSR1:NM_014246:exon1:c.G928A:p.V310I	.	423	1096	3	0	0	3	0.00136674	.	.	.	2819723	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	.	7.7e-05	0.00239617	0.0008	0	0.0002	0	0	0.0001	0	0.0054	0.0007503	116	154602	rs150808525	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0034	0.0033	0	2.236e-05	0	0	5.784e-05	0.0003	7.105e-05	0.0003	0.0038	0.0002	0.0002	0.0002	0.0002	0.0037	0.0001	0.0001	0.0024	0.0020	2.404e-05	0	6.532e-05	0	0	0	0	0.0001	0	0.0037	0.256	0.16793	T	0.506	0.10967	T	0.048	0.22112	B	0.019	0.18783	B	0.412987	0.12971	U	0.634032	1	0.08975	N	1	0.25136	L	4.65	0.01779	T	-0.53	0.16393	N	0.044	0.01658	-0.9101	0.46842	T	0.004	0.01261	T	10	0.01774636	0.00381	T	.	.	.	0.023	0.04649	.	.	0.158540857583	0.15491	0.33828382283806535	0.33741	0.591261029713	0.54567	0.359356671572	0.19292	T	0.103788	0.41276	T	-0.713121	0.00030	T	-0.79631	0.01996	T	0.0138096194577557	0.00261	T	0.744825	0.36507	T	0.030069316	0.02607	0.032399897	0.01971	0.030069316	0.02606	0.032399897	0.01970	-4.739	0.33872	T	.	.	0.079	0.07318	B	.	.	1.629259	0.20803	14.92	0.96024134979002873	0.28483	0.10821	0.16216	N	AEFDBCI	0.086398	0.17518	N	-0.903125470701839	0.10769	0.5162358	-0.891917146279062	0.12284	0.6310446	0.99994451715475	0.47345	0.652421	0.48094	0	0.588066	0.40923	0	0.64067	0.45733	0	0.620976	0.48614	0	.	.	4.18	0.331	0.15174	-0.034000	0.12176	0.749000	0.21222	0.591000	0.32079	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.1302:0.3846:0.3587:0.1265	3.382	0.06835	940	0.13648	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2634.33	38	chr22	46536243	.	C	T	2634.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.67;DP=965;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.765;SOR=0.709	GT:AD:DP:GQ:PL	0/1:121,106:227:99:2648,0,2929	18	0	1	0
chr22	49922288	49922325	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	0	exonic	CRELD2	.	.	.	.	435	791	175	16	105	312	0.115707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	5161.29	82	chr22	49922288	.	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	*	5161.29	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.299;DP=1193;ExcessHet=0.6689;FS=0;InbreedingCoeff=0.05;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=0.471;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,37:82:99:1|0:49922276_G_T:1420,0,1759:49922276	15	1	3	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	13594.5	82	chr22	49922304	.	C	*	13594.5	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.882;DP=1316;ExcessHet=0.233;FS=0;InbreedingCoeff=0.229;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.13;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,37:71:99:0|1:49922276_G_T:2841,1313,1358:49922276	13	1	5	0
chr22	50217367	50217367	T	C	exonic	SELENOO	.	unknown	UNKNOWN	.	385	1135	1	0	1	2	0.000440335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs750193826	6.985e-05	6.977e-05	3.815e-05	0.0001	0.0010	5.853e-05	5.462e-05	0.0009	0.0008	2.988e-05	0	0	0	0	0.0002	6.296e-06	6.626e-05	0.0010	1.314e-05	1.313e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.105	0.08925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.31634	0.07201	T	-0.319912	0.42585	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.721133	0.21908	15.40	0.74514148757126053	0.10723	0.92142	0.55038	D	AEFBHCI	.	.	.	0.669395132454097	0.77627	6.71156	0.379242896397136	0.60287	4.214589	0.99999999454771	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.375513	0.06772	0	0.760508	0.45107	4.32	4.32	0.50899	5.622000	0.67427	7.665000	0.64460	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.0:0.0:1.0	13.636	0.61696	684	0.59539	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1785.33	41	chr22	50217367	.	T	C	1785.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=824;ExcessHet=0;FS=2.46;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=2.06;SOR=0.452	GT:AD:DP:GQ:PL	0/1:64,64:128:99:1799,0,1758	18	0	1	0
chr22	50282778	50282778	C	T	exonic	PLXNB2	.	nonsynonymous SNV	PLXNB2:NM_001376869:exon17:c.G2920A:p.G974S,PLXNB2:NM_001376875:exon17:c.G2920A:p.G974S,PLXNB2:NM_001376878:exon17:c.G2920A:p.G974S,PLXNB2:NM_001376884:exon17:c.G2920A:p.G974S,PLXNB2:NM_001376864:exon18:c.G2920A:p.G974S,PLXNB2:NM_001376866:exon18:c.G2920A:p.G974S,PLXNB2:NM_001376870:exon18:c.G2920A:p.G974S,PLXNB2:NM_001376871:exon18:c.G2920A:p.G974S,PLXNB2:NM_001376880:exon18:c.G2920A:p.G974S,PLXNB2:NM_001376882:exon18:c.G2920A:p.G974S,PLXNB2:NM_001376883:exon18:c.G2920A:p.G974S,PLXNB2:NM_001376885:exon18:c.G2920A:p.G974S,PLXNB2:NM_001376886:exon18:c.G2827A:p.G943S,PLXNB2:NM_012401:exon18:c.G2920A:p.G974S,PLXNB2:NM_001376865:exon19:c.G2989A:p.G997S,PLXNB2:NM_001376867:exon19:c.G2920A:p.G974S,PLXNB2:NM_001376868:exon19:c.G2920A:p.G974S,PLXNB2:NM_001376873:exon19:c.G2920A:p.G974S,PLXNB2:NM_001376874:exon19:c.G2920A:p.G974S,PLXNB2:NM_001376876:exon19:c.G2920A:p.G974S,PLXNB2:NM_001376877:exon19:c.G2920A:p.G974S,PLXNB2:NM_001376881:exon19:c.G2920A:p.G974S,PLXNB2:NM_001376872:exon20:c.G2920A:p.G974S,PLXNB2:NM_001376879:exon20:c.G2920A:p.G974S	.	372	1149	1	0	0	1	0.000434972	.	.	.	2367879	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.015	0.0229958588036	8.3e-05	.	0.0002	0	8.859e-05	0	0.0008	6.285e-05	0	0.0010	0.0001682	26	154602	rs201704027	0.0001	0.0001	0.0001	0.0002	0.0011	0.0001	0.0001	0.0009	0.0008	0.0003	0.0001	0	2.519e-05	0.0004	0.0002	6.027e-05	0.0002	0.0011	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	0.0001	0.0003	0.0002	0.0001	0	0.0006	0	0	0.0003	0	0.0001	0.0005	0.0004	0.771	0.03373	T	0.864	0.03371	T	0.157	0.28234	B	0.021	0.19346	B	0.574299	0.05497	N	1.256640	1	0.08975	N	0.925	0.23481	L	4.02	0.03178	T	-0.66	0.19085	N	0.181	0.19593	-0.9078	0.47121	T	0.007	0.02558	T	10	0.022452354	0.00561	T	0.022996	0.45934	T	0.015	0.02232	.	.	0.440148150062	0.43634	0.5185847546440955	0.51781	0.328716719365	0.34987	0.446807771921	0.31508	T	0.05235	0.29136	T	-0.611618	0.00124	T	-0.744059	0.03722	T	0.0110879409183083	0.00161	T	0.523348	0.17107	T	0.03871961	0.05212	0.033472944	0.02247	0.03871961	0.05211	0.033472944	0.02247	-4.383	0.29326	T	.	.	0.079	0.08948	B	.;.	.;.	0.770702	0.11407	8.017	0.76192252598551868	0.11369	0.04990	0.10763	N	AEFDGBHCI	0.125694	0.24231	N	-1.53594850059891	0.01618	0.07074808	-1.56161050646105	0.01896	0.08651025	0.999999999925506	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	3.82	-0.558	0.11206	-0.898000	0.04213	0.302000	0.16989	-0.403000	0.05289	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6098:0.144:0.2462	7.203	0.25069	616	0.66398	IPT domain;IPT domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1418.33	37	chr22	50282778	.	C	T	1418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=764;ExcessHet=0;FS=8.425;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.539;SOR=1.371	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1432,0,1555	18	0	1	0
chrX	6533758	6533758	-	GTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	exonic	VCX3A	.	nonframeshift insertion	VCX3A:NM_016379:exon3:c.547_548insCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAAC:p.E182_L183insPLSQESQVEEPLSQESEMEE	.	425	1048	35	4	10	53	0.0201029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.0059	0.0058	0.0016	0.0098	0.0043	0.0043	0.0088	0.0085	0.0014	0.0046	0.0098	0.0098	0.0174	0.0058	0.0036	0.0063	0.0023	0.0017	0.0036	0.0022	0.0003	0.0021	0.0015	0.0014	0.0018	0.0016	0.0007	0	0.0020	0.0041	0.0021	0.0012	0.0104	0.0021	0.0030	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	15349.3	541	chrX	6533758	.	A	AGTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	15349.3	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.553;DP=3391;ExcessHet=1.3;FS=51.291;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=50.75;MQRankSum=-0.745;QD=16.7;ReadPosRankSum=3.74;SOR=1.95	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,75:153:99:.:.:2619,0,2993:.	14	0	5	0
chrX	7843933	7843933	A	0	exonic	VCX	.	.	.	.	462	969	41	24	26	115	0.0439073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	6010.59	367	chrX	7843933	.	A	*	6010.59	.	AC=2;AF=0.077;AN=26;BaseQRankSum=2.64;DP=3732;ExcessHet=1.4774;FS=7.994;InbreedingCoeff=-0.1206;MLEAC=3;MLEAF=0.115;MQ=46.27;MQRankSum=-6.239;QD=6.95;ReadPosRankSum=-3.753;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,12:86:99:0|1:7843916_TGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC_T:277,0,3047:7843916	11	0	2	6
chrX	7843935	7843935	G	0	exonic	VCX	.	.	.	.	1	214	1	0	10	11	0.002331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	3751.21	367	chrX	7843935	.	G	*	3751.21	.	AC=2;AF=0.077;AN=26;BaseQRankSum=0.619;DP=3803;ExcessHet=0.4139;FS=34.487;InbreedingCoeff=0.0077;MLEAC=3;MLEAF=0.115;MQ=47.37;MQRankSum=9.02;QD=7.72;ReadPosRankSum=-1.948;SOR=1.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,12:86:99:0|1:7843916_TGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC_T:277,0,3047:7843916	11	0	2	6
chrX	7843963	7843963	G	0	exonic	VCX	.	.	.	.	437	977	32	24	52	132	0.0393314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	912.69	367	chrX	7843963	.	G	*	912.69	.	AC=2;AF=0.071;AN=28;BaseQRankSum=2.04;DP=4175;ExcessHet=0.4139;FS=2.597;InbreedingCoeff=0.0411;MLEAC=3;MLEAF=0.107;MQ=47.75;MQRankSum=-4.171;QD=1.81;ReadPosRankSum=0.08;SOR=0.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,12:86:99:0|1:7843916_TGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC_T:277,0,3047:7843916	12	0	2	5
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	114544.0	389	chrX	7843976	.	C	*	114544.0	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.75;DP=5332;ExcessHet=2.0135;FS=0;InbreedingCoeff=-0.1875;MLEAC=3;MLEAF=0.079;MQ=49.19;MQRankSum=-10.87;QD=22.4;ReadPosRankSum=1.33;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,12:54:99:1|0:7843916_TGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC_T:3143,1448,1792:7843916	16	0	3	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	1584.05	171	chrX	10469690	.	T	C	1584.05	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-4.023;DP=1724;ExcessHet=6.9875;FS=123.179;InbreedingCoeff=-0.382;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.35;SOR=10.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:82,14:96:21:.:.:21,0,2025:.	8	0	10	1
chrX	19537724	19537724	C	T	exonic	SH3KBP1	.	nonsynonymous SNV	SH3KBP1:NM_001353897:exon11:c.G1106A:p.R369Q,SH3KBP1:NM_001184960:exon12:c.G1235A:p.R412Q,SH3KBP1:NM_001024666:exon16:c.G1838A:p.R613Q,SH3KBP1:NM_001353890:exon16:c.G1820A:p.R607Q,SH3KBP1:NM_001353894:exon16:c.G1718A:p.R573Q,SH3KBP1:NM_001353892:exon17:c.G1895A:p.R632Q,SH3KBP1:NM_001353893:exon17:c.G1847A:p.R616Q,SH3KBP1:NM_001353895:exon17:c.G1775A:p.R592Q,SH3KBP1:NM_031892:exon17:c.G1949A:p.R650Q,SH3KBP1:NM_001353891:exon18:c.G2024A:p.R675Q	.	429	1073	13	7	0	27	0.0124252	.	.	.	1159526	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.111	.	0.0044	0.0018543	0.0045	0.0002	0.0028	0	0.0075	0.0059	0.0032	0.0046	0.0044566	689	154602	rs142403021	0.0064	0.0064	0.0063	0.0066	0.0121	0.0063	0.0062	0.0094	0.0085	0.0009	0.0022	0.0009	3.311e-05	0.0066	0.0121	0.0071	0.0061	0.0058	0.0044	0.0046	0.0045	0.0043	0.0070	0.0041	0.0040	0.0064	0.0062	0.0009	0	0.0010	0.0011	0	0.0082	0.0139	0.0070	0.0060	0.0056	0.063	0.36709	T	0.461	0.34716	T	0.997	0.70673	D	0.777	0.57175	P	0.000011	0.62929	D	0.000000	0.997247	0.43737	D	1.14	0.29013	L	1.44	0.32722	T	-0.74	0.22078	N	0.372	0.49055	-1.0876	0.05943	T	0.082	0.32178	T	10	0.0070169866	0.00160	T	.	.	.	0.111	0.31313	.	.	0.737692879946	0.73534	0.12342256587257282	0.12268	1.12885950897	0.78537	0.570747613907	0.48784	T	0.155013	0.49655	T	-0.498161	0.00585	T	-0.482236	0.24209	T	0.0127812576297908	0.00217	T	0.979862	0.95727	D	0.46906	0.65232	0.29398748	0.55428	0.46906	0.65233	0.29398748	0.55427	-8.052	0.62794	D	0.3700495785124903	0.46566	0.151	0.47150	B	.;.;.;.	.;.;.;.	4.279369	0.65178	24.8	0.99939284217989988	0.99734	0.85563	0.44708	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.977373826067521	0.29815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.03	4.16	0.48138	3.353000	0.51962	7.620000	0.62269	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.9128:0.0:0.0872	11.857	0.51721	440	0.80101	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.006203	0.013605	0.001855	0.007905	0.000000	0.000000	0.004425	0.015789	0.05263	1855.81	36	chrX	19537724	.	C	T	1855.81	.	AC=2;AF=0.053;AN=38;DP=676;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.14;SOR=1.009	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1883,168,0	18	1	0	0
chrX	32565806	32565806	T	C	exonic	DMD	.	nonsynonymous SNV	DMD:NM_000109:exon16:c.A1864G:p.T622A,DMD:NM_004006:exon16:c.A1888G:p.T630A,DMD:NM_004009:exon16:c.A1876G:p.T626A,DMD:NM_004010:exon16:c.A1519G:p.T507A	Becker muscular dystrophy, X-linked recessive;Cardiomyopathy, dilated, 3B, X-linked;Duchenne muscular dystrophy, X-linked recessive	0	1518	1	3	0	7	0.00230036	.	.	YES	198591	Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype|Duchenne_muscular_dystrophy|Cardiomyopathy|Dystrophin_deficiency|Becker_muscular_dystrophy|not_provided	MONDO:MONDO:0010542,MedGen:C3668940,OMIM:302045,Orphanet:154|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010679,MedGen:C0013264,OMIM:310200,Orphanet:98896|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|.|MONDO:MONDO:0010311,MedGen:C0917713,OMIM:300376,Orphanet:98895|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.039	.	9.5e-05	0.000529801	0.0015	0	0.0001	0	0.0155	0.0012	0.0063	0.0003	0.0013454	208	154602	rs72468692	0.0009	0.0009	0.0009	0.0010	0.0012	0.0009	0.0009	0.0005	0.0005	3.791e-05	0	0	0	0.0116	0.0012	0.0005	0.0010	0.0005	0.0012	0.0013	0.0009	0.0017	0.0006	0.0010	0.0010	0.0005	0.0004	3.241e-05	0	0	0	0	0.0156	0	0.0006	0.0013	0	1.0	0.07497	T	0.522	0.10429	T	0.0	0.02946	B	0.0	0.01387	B	0.616160	0.10821	N	0.727763	1	0.08975	N	.	.	.	0.18	0.71779	T	-0.49	0.15578	N	0.032	0.01203	-0.9880	0.33102	T	0.063	0.26029	T	10	0.0073586106	0.00167	T	.	.	.	0.039	0.10176	.	.	0.298199939746	0.29431	0.05511594894284313	0.05452	0.0157027306126	0.01500	0.319444060326	0.13337	T	0.237201	0.61507	T	-0.689657	0.00042	T	-0.788048	0.02219	T	0.00453589918880317	0.00048	T	0.561944	0.19809	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01645	B	.;.;.;.;.	.;.;.;.;.	1.226184	0.16205	12.39	0.78548438539071197	0.12348	0.49643	0.28480	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.0234486860196543	0.13508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.28	-1.42	0.08446	0.501000	0.22286	0.612000	0.20040	-0.163000	0.11536	0.997000	0.40164	0.989000	0.31174	0.994000	0.71098	0.1713:0.589:0.0:0.2397	6.644	0.22118	854	0.34840	.;.;.;.;.	.	.	.	.	.	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	1	0	.	.	.	.	.	.	.	.	0.05263	2348.81	36	chrX	32565806	.	T	C	2348.81	.	AC=2;AF=0.053;AN=38;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.32;SOR=0.719	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2376,225,0	18	1	0	0
chrX	48802875	48802875	G	A	exonic	HDAC6	.	nonsynonymous SNV	HDAC6:NM_001321226:exon3:c.G98A:p.R33Q,HDAC6:NM_001321227:exon3:c.G98A:p.R33Q,HDAC6:NM_001321228:exon3:c.G98A:p.R33Q,HDAC6:NM_001321229:exon3:c.G98A:p.R33Q,HDAC6:NM_001321230:exon3:c.G98A:p.R33Q,HDAC6:NM_001321231:exon3:c.G98A:p.R33Q,HDAC6:NM_006044:exon3:c.G98A:p.R33Q,HDAC6:NM_001321225:exon4:c.G140A:p.R47Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.398763665917	.	.	1.577e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs782125114	9.136e-07	9.105e-07	0	2.776e-06	1.873e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.873e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.91255	T	0.0	0.92824	D	0.967	0.77913	D	0.289	0.64260	B	0.280182	0.14960	N	0.533455	0.99986	0.50061	D	2.2	0.62015	M	0.18	0.60361	T	-1.29	0.70553	N	0.214	0.23884	-0.7975	0.55292	T	0.231	0.59670	T	10	0.08644399	0.14693	T	0.398764	0.93351	D	0.060	0.17295	0.212	0.13066	0.754695108722	0.75247	0.3301131100440885	0.32924	1.03671017739	0.75637	0.346910119057	0.17466	T	0.319793	0.69104	T	-0.157979	0.27072	T	-0.464703	0.26088	T	0.188087620091507	0.19731	T	0.89941	0.66017	D	0.101270124	0.23920	0.12525614	0.30183	0.101270124	0.23920	0.12525614	0.30182	-4.437	0.30055	T	.	.	0.112	0.24329	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.441126	0.47869	22.5	0.99851776462875697	0.93102	0.41918	0.26763	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999996878542041	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2	3.32	0.37134	2.214000	0.42493	6.877000	0.56803	0.676000	0.76740	0.974000	0.34632	1.000000	0.68203	0.992000	0.67800	0.0:0.3983:0.6017:0.0	9.866	0.40309	6	0.99319	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2530.81	39	chrX	48802875	.	G	A	2530.81	.	AC=2;AF=0.053;AN=38;DP=719;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.74;SOR=0.832	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2558,225,0	18	1	0	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6053	329440.0	742	chrX	55146104	.	G	A	329440.0	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.47;DP=13074;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=26.15;ReadPosRankSum=0.694;SOR=0.726	GT:AD:DP:GQ:PL	0/1:93,603:696:99:17788,0,605	0	4	15	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.3529	32831.5	791	chrX	55146139	.	G	A	32831.5	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.454;DP=12869;ExcessHet=11.1788;FS=0;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=0.955;SOR=0.672	GT:AD:DP:GQ:PL	0/1:593,133:726:99:2039,0,17689	5	0	12	2
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.3684	42799.2	721	chrX	55146173	.	G	A	42799.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.643;DP=12126;ExcessHet=17.0548;FS=0.637;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=-0.029;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:560,113:673:99:.:.:2166,0,17580:.	5	0	14	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.3889	38022.8	651	chrX	55146197	.	G	A	38022.8	.	AC=14;AF=0.389;AN=36;BaseQRankSum=1.95;DP=10894;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=4.79;ReadPosRankSum=-0.18;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:485,92:577:99:.:.:1699,0,15708:.	4	0	14	1
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	248356.0	575	chrX	55146212	.	C	T	248356.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.62;DP=10110;ExcessHet=48.2876;FS=1.42;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26;ReadPosRankSum=1.35;SOR=0.54	GT:AD:DP:GQ:PL	0/1:76,417:493:99:13436,0,699	0	0	19	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S,FAM104B:NM_001166700:exon3:c.G193A:p.G65S,FAM104B:NM_001166701:exon3:c.G190A:p.G64S,FAM104B:NM_001166702:exon3:c.G181A:p.G61S,FAM104B:NM_001166703:exon3:c.G187A:p.G63S,FAM104B:NM_138362:exon3:c.G190A:p.G64S	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	10743.0	426	chrX	55146242	.	C	T	10743.0	.	AC=10;AF=0.278;AN=36;BaseQRankSum=1.85;DP=7675;ExcessHet=6.9875;FS=0;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.82;ReadPosRankSum=-0.553;SOR=0.701	GT:AD:DP:GQ:PL	0/1:328,60:388:99:830,0,11049	8	0	10	1
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.3684	25836.2	418	chrX	55146247	.	G	C	25836.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.026;DP=7388;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=0.405;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:321,51:372:99:0|1:55146247_G_C:1121,0,13138:55146247	5	0	14	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	25152.2	407	chrX	55146252	.	A	AT	25152.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.19;DP=7127;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.184;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:309,49:358:99:0|1:55146247_G_C:1104,0,12742:55146247	5	0	14	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	119400.0	395	chrX	55146254	.	T	C	119400.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.566;DP=7115;ExcessHet=48.2876;FS=6.049;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-1.393;SOR=0.475	GT:AD:DP:GQ:PL	0/1:111,233:344:99:6755,0,3675	0	0	19	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	24097.2	397	chrX	55146255	.	TG	T	24097.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.27;DP=6566;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.283;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:298,47:345:99:0|1:55146247_G_C:1076,0,12371:55146247	5	0	14	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	119815.0	315	chrX	55146275	.	T	G	119815.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.969;DP=5611;ExcessHet=48.2876;FS=13.766;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=-3.985;SOR=0.493	GT:AD:DP:GQ:PL	0/1:57,209:266:99:6765,0,1571	0	0	19	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2647	7637.88	285	chrX	55146283	.	C	T	7637.88	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-0.157;DP=4808;ExcessHet=5.3738;FS=4.353;InbreedingCoeff=-0.3572;MLEAC=10;MLEAF=0.294;MQ=60;MQRankSum=0;QD=3.68;ReadPosRankSum=-1.518;SOR=1.047	GT:AD:DP:GQ:PL	0/1:195,34:229:99:366,0,6418	8	0	9	2
chrX	91436668	91436668	G	A	exonic	PABPC5	.	nonsynonymous SNV	PABPC5:NM_080832:exon2:c.G1091A:p.R364H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0212191272092	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751297464	3.647e-06	4.553e-06	2.724e-06	5.512e-06	1.85e-05	8.5e-07	5.8e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.376e-06	2.174e-05	1.85e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.127	0.54159	T	0.942	0.52977	P	0.401	0.44513	B	0.000000	0.84330	D	0.000000	0.999933	0.51612	D	0.525	0.13617	N	2.32	0.16640	T	-3.9	0.74821	D	0.398	0.43899	-1.1212	0.02257	T	0.036	0.15553	T	10	0.50394374	0.61709	D	0.021219	0.43954	T	0.248	0.55615	0.66	0.79791	0.709873008806	0.70733	0.6437247062245874	0.64307	0.80591612175	0.66462	0.670064151287	0.62846	T	0.137415	0.47034	T	-0.18143	0.23522	T	-0.498388	0.22515	T	0.980539083480835	0.73411	D	0.967603	0.88252	D	0.34832907	0.56936	0.2814729	0.54129	0.34832907	0.56936	0.2814729	0.54128	-6.726	0.52006	T	.	.	0.129	0.27732	B	.;.	.;.	3.834041	0.55435	23.6	0.98822642594000976	0.46819	0.97533	0.75370	D	AEFBI	.	.	.	.	.	.	.	.	.	0.997238842572531	0.35404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	3.28	0.36691	7.850000	0.85220	4.526000	0.43706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.112:0.0:0.888:0.0	9.143	0.36078	949	0.11373	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	372.78	164	chrX	91436668	.	G	A	372.78	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.363;DP=1481;ExcessHet=0.7564;FS=155.266;InbreedingCoeff=-0.1236;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.819;SOR=8.608	GT:AD:DP:GQ:PL	0/1:69,30:99:99:177,0,1155	15	0	4	0
chrX	107926815	107926815	C	A	exonic	MID2	.	nonsynonymous SNV	MID2:NM_001382751:exon10:c.C1890A:p.H630Q,MID2:NM_001382752:exon10:c.C1800A:p.H600Q,MID2:NM_012216:exon10:c.C1950A:p.H650Q,MID2:NM_052817:exon10:c.C1860A:p.H620Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0118986604158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.197e-06	8.195e-06	6.807e-06	1.101e-05	1.069e-05	3.86e-06	2.79e-06	5.03e-06	3.64e-06	0	0	0	0	0	0	1.069e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504	0.07645	T	0.734	0.05090	T	0.001	0.07471	B	0.021	0.19346	B	0.000008	0.62929	N	0.113920	0.997345	0.22697	N	0.25	0.09762	N	-0.25	0.67011	T	-0.56	0.17003	N	0.126	0.13484	-1.0221	0.23031	T	0.131	0.44188	T	10	0.052693903	0.05345	T	0.011899	0.29978	T	0.070	0.20419	0.396	0.42262	0.324576393752	0.32066	0.08305584928407009	0.08240	0.447635886102	0.44616	0.600884258747	0.53029	T	0.074195	0.34879	T	-0.311369	0.07628	T	-0.685036	0.06681	T	0.13075689971447	0.15451	T	0.510949	0.16331	T	0.093533695	0.21971	0.08991652	0.21057	0.093533695	0.21970	0.08991652	0.21056	-3.095	0.11239	T	0.21823457231862087	0.29383	0.068	0.02733	B	.;.	.;.	0.782629	0.11529	8.126	0.86750317240144292	0.16747	0.72510	0.35488	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00344841324998774	0.10119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.37	1.65	0.23015	0.956000	0.28799	2.246000	0.31650	-0.125000	0.13442	0.754000	0.29177	0.994000	0.32194	0.965000	0.52897	0.2525:0.139:0.6085:0.0	5.747	0.17396	14	0.98855	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain|TRIM1, PRY/SPRY domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2825.81	33	chrX	107926815	.	C	A	2825.81	.	AC=2;AF=0.053;AN=38;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.11;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2853,264,0	18	1	0	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1139.66	111	chrX	135580144	.	G	C	1139.66	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-0.835;DP=1343;ExcessHet=31.086;FS=227.944;InbreedingCoeff=-0.8004;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.257;SOR=12.389	GT:AD:DP:GQ:PL	0/1:29,16:50:33:33,0,359	2	0	17	0
chrX	145824925	145824925	G	T	exonic	SLITRK2	.	stopgain	SLITRK2:NM_001144009:exon2:c.G2500T:p.E834X,SLITRK2:NM_001144006:exon3:c.G2500T:p.E834X,SLITRK2:NM_001144008:exon3:c.G2500T:p.E834X,SLITRK2:NM_001144010:exon3:c.G2500T:p.E834X,SLITRK2:NM_001144003:exon5:c.G2500T:p.E834X,SLITRK2:NM_001144004:exon5:c.G2500T:p.E834X,SLITRK2:NM_001144005:exon5:c.G2500T:p.E834X,SLITRK2:NM_032539:exon5:c.G2500T:p.E834X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	.	.	.	.	.	.	.	.	.	0.263	0.29774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619807	0.98345	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	8.453987	0.97585	37	0.99609354430669972	0.74694	0.99562	0.97468	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999994984869518	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.38	5.38	0.77279	10.003000	0.99689	11.814000	0.97026	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	15.493	0.75361	987	0.02648	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	2602.81	44	chrX	145824925	.	G	T	2602.81	.	AC=2;AF=0.053;AN=38;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.74;SOR=1.151	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2630,246,0	18	1	0	0
chrX	148991285	148991285	G	A	exonic	AFF2	.	nonsynonymous SNV	AFF2:NM_001170628:exon18:c.G2812A:p.V938I,AFF2:NM_001169122:exon20:c.G3784A:p.V1262I,AFF2:NM_001169124:exon20:c.G3784A:p.V1262I,AFF2:NM_001169125:exon20:c.G3772A:p.V1258I,AFF2:NM_001169123:exon21:c.G3859A:p.V1287I,AFF2:NM_002025:exon21:c.G3889A:p.V1297I	Mental retardation, X-linked, FRAXE type, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.255277389711	.	.	3.45e-05	0.0001	0	0	0	4.184e-05	0	0	3.88e-05	6	154602	rs782158550	6.386e-06	6.374e-06	1.361e-06	1.659e-05	3.797e-05	2.66e-06	1.71e-06	2.57e-06	1.69e-06	3.797e-05	0	0	0	0	0	7.135e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.29554	T	0.293	0.28120	T	0.789	0.44570	P	0.239	0.42046	B	0.000951	0.40932	D	0.159011	0.981784	0.39816	D	0.78	0.19475	N	-0.08	0.63911	T	-0.53	0.16393	N	0.143	0.23758	-0.7973	0.55303	T	0.175	0.51896	T	10	0.30912435	0.48402	T	0.255277	0.89284	D	0.112	0.31546	0.577	0.70217	0.624357547178	0.62130	0.8610039640473544	0.86064	0.816906353025	0.66982	0.433256924152	0.29654	T	0.207755	0.56748	T	-0.337303	0.05577	T	-0.529298	0.19356	T	0.0954875978781952	0.11854	T	0.816118	0.47137	T	0.16993482	0.37538	0.16030027	0.37343	0.16993482	0.37538	0.16030027	0.37343	-1.56	0.03300	T	.	.	0.134	0.29144	B	.;.;.;.	.;.;.;.	3.706031	0.52884	23.3	0.99608338005863162	0.74634	0.85717	0.44880	D	AEFI	.	.	.	.	.	.	.	.	.	0.992706088167473	0.32938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.46	4.4	0.52402	3.965000	0.56495	9.427000	0.80782	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0879:0.0:0.9121:0.0	14.133	0.64803	889	0.27310	.;.;.;.	.	.	.	.	.	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	0.000688	0.000000	0.000000	0.003953	0.000000	0.000000	0.000000	0.000000	0.05263	2463.81	33	chrX	148991285	.	G	A	2463.81	.	AC=2;AF=0.053;AN=38;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.19;SOR=0.718	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2491,237,0	18	1	0	0
chrX	154534419	154534419	G	A	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon6:c.C653T:p.S218F,G6PD:NM_001042351:exon6:c.C563T:p.S188F,G6PD:NM_001360016:exon6:c.C563T:p.S188F	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	1	1326	123	72	0	267	0.0914697	.	.	YES	25407	not_provided|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|Malaria,_susceptibility_to|G6PD_CAGLIARI|G6PD_MEDITERRANEAN|G6PD_SASSARI|G6PD_deficiency|Inborn_genetic_diseases|See_cases|G6PD_deficient_hemolytic_anemia|G6PD-related_disorder|Hemolytic_anemia,_G6PD_deficient_(favism)	MedGen:C3661900|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|.|.|.|MONDO:MONDO:0005775,MedGen:C2939465|MeSH:D030342,MedGen:C0950123|.|.|.|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.811	.	0.0007	0.000794702	0.0027	0.0004	0.0006	0	0	0.0011	0.0112	0.0160	0.0024838	384	154602	rs5030868	0.0015	0.0015	0.0011	0.0023	0.0435	0.0014	0.0014	0.0383	0.0363	0.0003	2.842e-05	0.0055	0	0	0.0435	0.0002	0.0032	0.0189	0.0007	0.0008	0.0006	0.0011	0.0149	0.0006	0.0005	0.0113	0.0100	0.0001	0	0	0.0060	0	0	0.0138	0.0002	0.0046	0.0149	0.017	0.52492	D	0.008	0.67890	D	0.022	0.18677	B	0.039	0.23607	B	0.000101	0.50451	D	0.177639	1	0.81001	D	3.42	0.91902	M	-4.87	0.98279	D	-4.22	0.75935	D	0.562	0.70615	0.957	0.96492	D	0.933	0.97805	D	10	0.012398928	0.00267	T	.	.	.	0.811	0.93892	.	.	0.989763325404	0.98964	0.927394258905308	0.92717	0.202134561341	0.22635	0.361571013927	0.19615	T	0.958441	0.99448	D	0.148364	0.69115	D	0.453964	0.93676	D	0.128705447749552	0.15261	T	0.953605	0.82399	D	0.90304965	0.91658	0.8944889	0.94585	0.9519563	0.96465	0.8714105	0.92964	-11.526	0.83968	D	0.6452008465600814	0.71653	0.361	0.69938	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.714215	0.53042	23.3	0.99560193252273865	0.71707	0.94225	0.60494	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999999995	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.65	5.65	0.86881	5.542000	0.66927	9.812000	0.81753	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.929	0.79431	80	0.96670	Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;.;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding	.	.	.	.	.	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	0.025694	0.000000	0.007421	0.075099	0.000000	0.023529	0.013274	0.047368	0.1316	6506.33	38	chrX	154534419	.	G	A	6506.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.19;DP=872;ExcessHet=0;FS=0.472;InbreedingCoeff=0.7697;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=21.54;ReadPosRankSum=0.8;SOR=0.732	GT:AD:DP:GQ:PL	1/1:0,84:84:99:2521,252,0	16	2	1	0
chrY	9467257	9467257	G	A	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon1:c.G257A:p.R86Q,TSPY1:NM_003308:exon1:c.G257A:p.R86Q	.	1147	333	32	10	0	52	0.0724234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	.	.	0.1667	.	.	0	.	.	.	0.2	3.84e-05	1	26028	rs777840135	0.0001	0.0005	.	0.0001	0.0011	9.158e-05	8.115e-05	0.0007	0.0006	0	0	0	0	0.0001	0	6.671e-05	8.002e-05	0.0011	3.003e-05	0.0002	.	3.003e-05	0.0007	0	0	.	.	0	0	0	0	0.0007	0	0	0	0	0	0.413	0.10052	T	0.586	0.15059	T	0.942	0.58077	P	0.102	0.43842	B	.	.	.	.	.	.	.	1.24	0.30952	L	1.55	0.29866	T	0.29	0.04161	N	0.051	0.04790	-1.0424	0.16592	T	0.020	0.08500	T	5	0.0024063885	0.00036	T	.	.	.	0.052	0.14661	.	.	0.15556083564	0.15200	0.056038622022919246	0.05544	.	.	.	.	.	0.009498	0.08644	T	-0.450626	0.01120	T	-0.885069	0.00613	T	0.039082858610258	0.03525	T	0.458954	0.13262	T	0.09309585	0.21857	0.15247531	0.35872	0.09309585	0.21857	0.15247531	0.35871	-3.152	0.11903	T	.	.	0.072	0.09578	B	.;.	.;.	0.182618	0.05701	2.146	0.81828080224814892	0.13880	0.00167	0.00991	N	AEF	.	.	.	.	.	.	.	.	.	1.11426519872457E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.090000	0.11129	.	.	0.221000	0.18078	0.946000	0.32893	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	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	1206.54	.	chrY	9467257	.	G	A	1206.54	.	AC=3;AF=0.167;AN=18;BaseQRankSum=1.66;DP=159;ExcessHet=0.8432;FS=2.407;MLEAC=5;MLEAF=0.278;MQ=34.27;MQRankSum=-0.869;QD=16.09;ReadPosRankSum=-0.261;SOR=0.372	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:10,16:26:99:.:.:362,0,190:.	6	0	3	10