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	NSWES882-F	WT	HH	HZ	NC
chr1	970301	970301	C	T	exonic	PLEKHN1	.	stopgain	PLEKHN1:NM_001160184:exon3:c.C208T:p.R70X,PLEKHN1:NM_001367552:exon3:c.C208T:p.R70X,PLEKHN1:NM_032129:exon3:c.C208T:p.R70X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.518e-05	0	0	0	0	3.072e-05	0.0011	0	1.94e-05	3	154602	rs779046082	2.943e-05	2.941e-05	2.179e-05	3.715e-05	0.0002	2.218e-05	1.971e-05	2.455e-05	2.143e-05	0	4.474e-05	3.827e-05	2.519e-05	0	0.0002	3.328e-05	0	1.159e-05	4.604e-05	4.597e-05	1.286e-05	8.08e-05	0.0003	2.111e-05	1.528e-05	0.0001	8.293e-05	0	0	0.0003	0	0	0	0.0032	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.816714	0.06859	N	1.134170	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.081	0.05670	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290754	0.82217	D	0.276725	0.86946	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	6.448894	0.95229	34	0.99567082867152423	0.72136	0.11238	0.16501	N	AEFBI	0.095850	0.19360	N	0.105725427945561	0.46729	2.908919	-0.211371456746194	0.31126	1.758664	0.937055624386046	0.27281	0.676563	0.55306	0	0.588066	0.40923	0	0.673471	0.61138	0	0.616125	0.45549	0	.	.	5.11	3.06	0.34374	-0.057000	0.11726	.	.	0.589000	0.31548	0.000000	0.06391	0.001000	0.17328	0.003000	0.05239	0.2667:0.5771:0.1562:0.0	6.958	0.23764	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	585.43	33	chr1	970301	.	C	T	585.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.771;DP=359;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.904;SOR=0.596	GT:AD:DP:GQ:PL	0/1:22,29:51:99:597,0,516	9	0	1	0
chr1	1709100	1709100	A	G	exonic	CDK11A	.	nonsynonymous SNV	CDK11A:NM_001313896:exon8:c.T791C:p.L264P,CDK11A:NM_001313982:exon8:c.T779C:p.L260P,CDK11A:NM_024011:exon8:c.T782C:p.L261P,CDK11A:NM_033529:exon8:c.T752C:p.L251P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.199407292294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.01e-06	7.046e-06	1.712e-05	0	1.357e-05	1.87e-06	1.26e-06	4.17e-06	2.14e-06	0	0	0	0	0	0	1.357e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.91255	T	0.294	0.21678	T	1.0	0.90584	D	0.999	0.92359	D	0.000027	0.55875	D	0.072930	1	0.81001	D	2.545	0.74286	M	2.26	0.17596	T	-0.42	0.21215	N	0.507	0.53884	-1.1051	0.03527	T	0.084	0.32729	T	10	0.34290853	0.51313	T	0.199407	0.86650	D	0.132	0.35948	0.279	0.23323	0.571897645862	0.56856	0.30191750913494686	0.30104	0.9835676918	0.73823	.	.	.	0.032343	0.22444	T	-0.042551	0.45569	T	-0.298898	0.44842	T	0.82007884979248	0.47778	D	0.963304	0.86380	D	0.45264474	0.64209	0.41551083	0.65663	0.45264474	0.64209	0.41551083	0.65663	-10.564	0.83797	D	.	.	0.741	0.80506	P	.;.;.;.;.;.	.;.;.;.;.;.	4.877118	0.79954	27.2	0.9987481108916807	0.95160	0.94766	0.62256	D	AEFI	0.880815	0.80772	D	0.446523681886591	0.64006	4.645757	0.367939193223892	0.59596	4.138753	0.00241343829013502	0.09408	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.24	1.99	0.25423	7.876000	0.85623	8.454000	0.77227	0.334000	0.19664	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.8107:0.1893:0.0:0.0	8.793	0.34019	649	0.63102	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	132.97	3	chr1	1709100	.	A	G	132.97	.	AC=4;AF=0.2;AN=20;DP=39;ExcessHet=0;FS=0;InbreedingCoeff=0.6636;MLEAC=3;MLEAF=0.15;MQ=27;QD=26.59;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,2:2:6:64,6,0	8	2	0	0
chr1	2790142	2790142	G	A	exonic	TTC34	.	nonsynonymous SNV	TTC34:NM_001242672:exon2:c.C989T:p.A330V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1018598470	4.064e-06	4.771e-06	0	8.018e-06	6.335e-06	0	0	.	.	0	0	0	0	0	0	6.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2530161	0.42663	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515049	0.16594	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27493	B	.	.	3.660833	0.52006	23.2	0.68936877061341784	0.08813	0.27052	0.23169	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.00832406749545143	0.11654	0.056701	0.00814	0	0.063388	0.01293	0	0.074216	0.02223	0	0.058706	0.01089	0	0.331609	0.35723	3.99	2.03	0.25714	3.724000	0.54690	3.024000	0.36014	0.485000	0.22221	0.957000	0.33433	0.489000	0.25143	0.237000	0.22922	0.0928:0.1649:0.5724:0.1699	3.676	0.07826	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	30.85	3	chr1	2790142	.	G	A	30.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=7.71;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,37	5	0	1	4
chr1	3829868	3829868	G	A	exonic	CEP104	.	nonsynonymous SNV	CEP104:NM_014704:exon14:c.C1966T:p.R656C	Joubert syndrome 25, Autosomal recessive	429	1086	7	0	0	7	0.00321248	.	.	.	690595	Joubert_syndrome_25|not_provided	MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.409	0.0662248265691	0.0035	0.000599042	0.0028	0.0010	0.0008	0.0001	0.0012	0.0043	0	0.0015	0.0028848	446	154602	rs148465057	0.0042	0.0042	0.0043	0.0041	0.0051	0.0041	0.0041	0.0050	0.0049	0.0008	0.0010	0.0003	0.0004	0.0012	0.0016	0.0051	0.0034	0.0015	0.0027	0.0027	0.0029	0.0025	0.0047	0.0024	0.0024	0.0043	0.0042	0.0010	0.0011	0.0012	0	0.0002	0.0010	0	0.0047	0.0014	0.0010	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.145	0.88303	M	2.06	0.20523	T	-5.98	0.89334	D	0.809	0.80473	-0.9311	0.43977	T	0.141	0.46183	T	10	0.047321856	0.04035	T	0.066225	0.69812	D	0.409	0.72099	.	.	0.641555005616	0.63859	0.5386509971757536	0.53790	0.818007052444	0.67022	0.483595311642	0.36552	T	0.335846	0.70542	T	-0.0461738	0.45026	T	0.161989	0.80929	D	0.0682306906457835	0.08401	T	0.926807	0.73035	D	0.6482695	0.75272	0.35916236	0.61380	0.54157764	0.69486	0.30200413	0.56232	-11.905	0.84384	D	.	.	0.225	0.45641	B	.	.	5.579156	0.92288	32	0.99933905456187877	0.99535	0.98803	0.87055	D	AEFDBI	0.858914	0.77650	D	0.763681048896299	0.83793	8.11134	0.699765929696552	0.82359	7.747931	0.999717444855181	0.42101	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	7.548000	0.81103	11.496000	0.92946	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.718000	0.34707	0.0:0.0:0.8418:0.1582	13.295	0.59727	976	0.04745	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	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.007576	0.05	1091.43	35	chr1	3829868	.	G	A	1091.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.754;DP=454;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-1.527;SOR=0.612	GT:AD:DP:GQ:PL	0/1:72,52:124:99:1103,0,1730	9	0	1	0
chr1	4712519	4712521	GCC	-	exonic	AJAP1	.	nonframeshift deletion	AJAP1:NM_001042478:exon2:c.649_651del:p.A218del,AJAP1:NM_018836:exon2:c.649_651del:p.A218del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245696035	2.397e-05	2.599e-05	2.452e-05	2.34e-05	0.0009	1.74e-05	1.54e-05	0.0006	0.0006	0	0	0	0.0009	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5126.1	62	chr1	4712518	.	GGCC	G	5126.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.69;DP=629;ExcessHet=0.2348;FS=0.47;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=21.1;ReadPosRankSum=0.683;SOR=0.673	GT:AD:DP:GQ:PL	0/1:49,66:115:99:2533,0,1775	8	0	2	0
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	.	.	.	.	.	.	.	.	0.25	5513.28	34	chr1	10326244	.	G	C	5513.28	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-6.793;DP=1395;ExcessHet=4.5998;FS=275.809;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.5;ReadPosRankSum=1.84;SOR=11.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,49:198:99:0|1:10326244_G_C:823,0,5455:10326244	5	0	5	0
chr1	11965543	11965543	C	T	exonic	PLOD1	.	nonsynonymous SNV	PLOD1:NM_000302:exon14:c.C1534T:p.R512C,PLOD1:NM_001316320:exon15:c.C1675T:p.R559C	Ehlers-Danlos syndrome, type VI, Autosomal recessive	2	1500	18	2	0	22	0.00727995	.	.	YES	249375	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome|not_specified|Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1|not_provided	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:CN169374|MONDO:MONDO:0016002,MedGen:C0268342,OMIM:225400,Orphanet:1900|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.414	0.16287966263	0.0038	0.00179712	0.0035	0.0011	0.0004	0	0.0020	0.0049	0.0022	0.0037	0.0034411	532	154602	rs138490756	0.0049	0.0049	0.0049	0.0049	0.0104	0.0048	0.0048	0.0083	0.0075	0.0004	0.0008	0.0021	0	0.0028	0.0104	0.0057	0.0042	0.0035	0.0032	0.0032	0.0036	0.0028	0.0057	0.0030	0.0029	0.0052	0.0051	0.0009	0	0.0016	0.0023	0	0.0010	0.0136	0.0057	0.0024	0.0023	0.002	0.72154	D	0.009	0.66756	D	0.941	0.52883	P	0.2	0.36839	B	0.000021	0.62929	D	0.120996	0.904707	0.36258	D	0.345	0.11182	N	-1.94	0.84919	D	-3.03	0.62747	D	0.428	0.46742	-0.2701	0.75809	T	0.262	0.63274	T	10	0.013092965	0.00279	T	0.16288	0.84235	D	0.414	0.72479	.	.	0.855875980841	0.85448	0.6379520951430856	0.63729	0.41680062442	0.42316	0.247563481331	0.03515	T	0.40173	0.75895	T	-0.275741	0.11125	T	-0.165133	0.57887	T	0.0297979050361403	0.01959	T	0.943606	0.78679	D	0.25848582	0.48897	0.16500653	0.38195	0.31826228	0.54493	0.18967345	0.42326	-9.771	0.72528	D	0.12475964414831875	0.12295	0.150	0.33203	B	.	.	4.031260	0.59609	24.1	0.99820706349951294	0.90326	0.92078	0.54896	D	AEFDBI	0.778706	0.71113	D	-0.230338253826705	0.31894	1.793081	-0.167573237743813	0.32738	1.865516	0.999720114543042	0.42220	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	4.64	0.57399	0.357000	0.19935	3.919000	0.40458	0.549000	0.26987	0.990000	0.36992	1.000000	0.68203	0.966000	0.53164	0.1487:0.7081:0.1431:0.0	10.681	0.45009	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.010101	0.004076	0.011696	0.000000	0.008621	0.009146	0.015152	0.1	2647.14	33	chr1	11965543	.	C	T	2647.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.959;DP=539;ExcessHet=0.2348;FS=4.902;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=1.36;SOR=0.525	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1341,0,1465	8	0	2	0
chr1	12938786	12938786	C	G	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.G1320C:p.K440N	.	424	1080	18	0	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00108135829455	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs201371022	0.0030	0.0054	0.0030	0.0029	0.0167	0.0029	0.0029	0.0156	0.0152	0.0070	0.0026	0.0133	0.0167	0.0016	0.0039	0.0023	0.0045	0.0011	0.0067	0.0083	0.0067	0.0067	0.0118	0.0064	0.0062	0.0109	0.0106	0.0118	0.0011	0.0066	0.0184	0.0044	0.0016	0.0104	0.0044	0.0082	0.0010	0.278	0.15613	T	0.422	0.14034	T	0.001	0.07471	B	0.004	0.10090	B	0.006114	0.01110	N	2.795530	1	0.08975	N	0.12	0.08593	N	0.83	0.47815	T	-1.16	0.29727	N	0.058	0.02964	-1.0596	0.11855	T	0.063	0.26279	T	10	0.007505417	0.00171	T	0.001081	0.01263	T	0.014	0.01968	0.387	0.40788	0.168254554758	0.16434	0.16781203573539377	0.16701	1.86067590862	0.92401	0.599129319191	0.52781	T	0.021	0.16311	T	-0.306579	0.08053	T	-0.678156	0.07096	T	0.00917191634474916	0.00116	T	.	.	.	0.09016989	0.21090	0.055151075	0.09622	0.09016989	0.21090	0.055151075	0.09621	-3.708	0.19437	T	.	.	0.130	0.29032	B	.;.	.;.	1.238247	0.16335	12.47	0.51106505301877214	0.04503	0.00735	0.03077	N	AEFI	0.032337	0.03632	N	-1.26143505230018	0.04151	0.1867814	-1.33491573488619	0.03986	0.1871159	1.09695376457081E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.994	-0.0658	0.13099	0.113000	0.15333	0.515000	0.19114	0.412000	0.20661	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6989:0.0:0.3011	3.475	0.07146	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	.	.	.	.	.	.	.	.	0.05	2285.43	334	chr1	12938786	.	C	G	2285.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.82;DP=2282;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=36.59;MQRankSum=-9.106;QD=10.16;ReadPosRankSum=1.51;SOR=0.725	GT:AD:DP:GQ:PL	0/1:116,109:225:99:2297,0,2425	9	0	1	0
chr1	13318598	13318598	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G191A:p.R64H	.	405	1091	26	0	0	26	0.0117754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0369774697323	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472959485	0.0003	0.0067	0.0003	0.0003	0.0013	0.0003	0.0003	0.0007	0.0006	0.0005	0.0002	0.0002	0.0009	9.573e-05	0.0013	0.0003	0.0003	0.0005	0.0003	0.0025	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0035	6.657e-05	0	0.0006	0.0002	0	0.0002	0.0005	0.0004	0.525	0.07140	T	0.575	0.08654	T	.	.	.	.	.	.	0.074092	0.02283	N	1.881130	1	0.08975	N	.	.	.	2.79	0.11189	T	-0.55	0.16799	N	0.044	0.01658	-1.0293	0.20681	T	0.015	0.05946	T	8	0.023069829	0.00593	T	0.001222	0.01608	T	.	.	.	.	0.0297737177859	0.01360	0.23243132047722803	0.23158	.	.	0.456076145172	0.32774	T	.	.	.	-0.42041	0.01700	T	-0.841667	0.01074	T	0.0221624638565028	0.00927	T	0.152485	0.01303	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	-0.306877	0.02587	0.318	0.3247514774469345	0.01884	0.00112	0.00708	N	AEFI	0.021848	0.01021	N	-1.54749839839041	0.01549	0.06767291	-1.73690248014379	0.00983	0.04406507	1.1847666085279E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	-2.29	0.06419	-0.600000	0.05789	-8.133000	0.01022	-3.802000	0.00059	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.2401:0.3173:0.2441:0.1984	0.434	0.00444	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	721.37	76	chr1	13318598	.	G	A	721.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=0.761;DP=1190;ExcessHet=0.2348;FS=10.425;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=38.24;MQRankSum=-2.061;QD=2.05;ReadPosRankSum=-1.739;SOR=1.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,24:173:99:0|1:13318598_G_A:531,0,6097:13318598	7	0	2	1
chr1	13318601	13318601	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G194A:p.R65H	.	406	1103	13	0	0	13	0.00585849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0336539354214	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416469108	5.572e-05	0.0019	5.475e-05	5.67e-05	0.0009	4.569e-05	4.179e-05	0.0003	0.0002	8.969e-05	2.244e-05	0.0004	2.52e-05	1.877e-05	0.0009	3.437e-05	8.326e-05	0.0002	0.0001	0.0007	0.0002	0.0001	0.0006	9.796e-05	8.303e-05	0.0002	9.119e-05	9.639e-05	0	6.588e-05	0.0003	0	9.445e-05	0	0.0002	0.0005	0.0006	0.204	0.20078	T	0.542	0.09690	T	.	.	.	.	.	.	0.212854	0.03399	N	1.582610	1	0.08975	N	.	.	.	2.79	0.11189	T	-2.67	0.57110	D	0.089	0.06720	-0.9832	0.34258	T	0.043	0.18576	T	8	0.088977695	0.15370	T	0.001103	0.01312	T	.	.	.	.	0.0297737177859	0.01360	0.23248738235852817	0.23163	.	.	0.376942545176	0.21821	T	.	.	.	-0.398143	0.02381	T	-0.809682	0.01672	T	0.115081892617503	0.13942	T	0.555844	0.19272	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	0.481113	0.08503	5.267	0.62407952715295867	0.06955	0.00427	0.02100	N	AEFI	0.022775	0.01181	N	-1.00019295008573	0.08600	0.4038423	-1.23786836837196	0.05313	0.2528468	1.09865888659562E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	0.144	0.14120	-0.846000	0.04444	-10.921000	0.00652	-0.668000	0.04312	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2396:0.0:0.7604:0.0	4.502	0.11278	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	686.14	76	chr1	13318601	.	G	A	686.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.38;DP=802;ExcessHet=0.2348;FS=20.9;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=37.62;MQRankSum=-1.868;QD=1.98;ReadPosRankSum=-0.891;SOR=2.124	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,23:170:99:0|1:13318598_G_A:516,0,6054:13318598	8	0	2	0
chr1	13319687	13319687	G	C	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon3:c.G609C:p.M203I	.	437	1075	10	0	0	10	0.00462963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0384152872209	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1302031297	0.0002	0.0015	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0002	0.0003	0.0002	1.17e-05	0.0004	0.0019	0.0003	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0006	0	0.0007	0.0006	0	9.441e-05	0	0.0003	0.0010	0	0.33	0.13131	T	0.585	0.08361	T	.	.	.	.	.	.	0.987370	0.07880	N	1.005810	1	0.08975	N	.	.	.	2.52	0.14160	T	-2.36	0.52128	N	0.138	0.13626	-0.9810	0.34771	T	0.015	0.06282	T	8	0.10538337	0.19475	T	0.001031	0.01144	T	.	.	.	.	0.0551355673512	0.04727	0.23732904396824145	0.23647	.	.	0.71321284771	0.69058	T	.	.	.	-0.372901	0.03450	T	-0.773423	0.02657	T	0.0669887070056035	0.08222	T	0.036263	0.00250	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.50925	B	.	.	-0.807251	0.01093	0.049	0.64522148943575663	0.07517	0.00394	0.01977	N	AEFI	0.021015	0.00891	N	-0.905705559726531	0.10708	0.5130102	-1.03680153140756	0.08984	0.4445248	3.21394511381033E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.44	1.44	0.21647	-2.267000	0.01252	-14.129000	0.00420	-1.280000	0.01269	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	6.382	0.20743	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	435.43	42	chr1	13319687	.	G	C	435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-8.35;DP=697;ExcessHet=0;FS=58.4;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=31.06;MQRankSum=3.61;QD=2.96;ReadPosRankSum=-0.429;SOR=6.171	GT:AD:DP:GQ:PL	0/1:119,28:147:99:447,0,3376	9	0	1	0
chr1	15518245	15518245	C	T	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon2:c.G283A:p.A95T,CASP9:NM_001278054:exon2:c.G283A:p.A95T,CASP9:NM_032996:exon2:c.G34A:p.A12T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00506188088607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.194	0.27783	T	0.484	0.16086	T	0.073	0.24078	B	0.06	0.26717	B	0.141159	0.18286	N	0.585612	0.999994	0.08975	N	1.24	0.30952	L	4.62	0.07920	T	-0.74	0.21429	N	0.074	0.13769	-0.9358	0.43272	T	0.014	0.05417	T	10	0.053319484	0.05503	T	0.005062	0.12815	T	0.028	0.06331	0.254	0.19378	0.392702134506	0.38879	0.24656893987794953	0.24570	0.116016811942	0.13085	0.25747859478	0.04595	T	0.102883	0.41102	T	-0.256968	0.13258	T	-0.606893	0.12239	T	0.0615760572254658	0.07414	T	0.579442	0.27600	T	0.14816163	0.33838	0.08891712	0.20761	0.14816163	0.33837	0.08891712	0.20760	-3.89	0.22152	T	.	.	0.080	0.27910	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.452592	0.08228	4.965	0.83915295214700614	0.14992	0.14802	0.18593	N	AEFDBI	0.138554	0.25989	N	-1.40255826153729	0.02616	0.1157809	-1.42818620782576	0.02973	0.137829	0.956065343669796	0.28225	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.29	1.3	0.20778	-0.072000	0.11446	-0.311000	0.10039	-1.753000	0.00686	0.164000	0.23853	0.002000	0.18203	0.004000	0.06068	0.2166:0.6563:0.0:0.127	4.527	0.11393	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	336.1	40	chr1	15518245	.	C	T	336.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.497;DP=1203;ExcessHet=4.5998;FS=175.279;InbreedingCoeff=-0.3998;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.57;SOR=10.685	GT:AD:DP:GQ:PL	0/1:119,36:155:46:46,0,2774	4	0	6	0
chr1	15559540	15559540	G	C	exonic	DNAJC16	.	nonsynonymous SNV	DNAJC16:NM_001287811:exon7:c.G102C:p.K34N,DNAJC16:NM_015291:exon8:c.G1038C:p.K346N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0328347890655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0033	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.11e-05	2.242e-05	0.0002	0.0002	0.0002	0	0.0003	0.0002	6.995e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.40832	T	0.002	0.83351	D	0.998	0.73220	D	0.852	0.60758	P	0.000001	0.84330	D	0.092863	0.978976	0.25213	N	2.62	0.76659	M	2.29	0.17113	T	-1.14	0.29323	N	0.808	0.81658	-1.0776	0.07821	T	0.076	0.30492	T	10	0.615474	0.67681	D	0.032835	0.54554	D	0.109	0.30843	0.288	0.24761	0.361160317528	0.35726	0.7971393182230749	0.79666	0.675634459511	0.59719	0.593763709068	0.52025	T	0.024746	0.32281	T	-0.129001	0.31658	T	-0.423077	0.30724	T	0.763135969638824	0.44033	D	0.957038	0.84692	D	0.17311552	0.38042	0.10023495	0.23959	0.17311552	0.38041	0.10023495	0.23958	-3.109	0.43915	T	.	.	0.535	0.66159	A	.;.;.;.	.;.;.;.	4.221675	0.63864	24.6	0.99651966654979685	0.77380	0.89772	0.50455	D	AEFDGBCI	0.332943	0.43219	N	0.165367727067141	0.49541	3.153414	0.114872783977894	0.45307	2.796318	0.999975053923645	0.50053	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.674467	0.66132	0	.	.	5.95	4.1	0.47196	2.185000	0.42215	3.965000	0.40779	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.2241:0.0:0.7759:0.0	9.034	0.35440	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	142.73	74	chr1	15559540	.	G	C	142.73	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-4.323;DP=924;ExcessHet=0.2348;FS=227.947;InbreedingCoeff=-0.177;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=1.03;SOR=9.49	GT:AD:DP:GQ:PL	0/1:96,26:122:99:122,0,2062	6	0	2	2
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	0.5	19915.0	795	chr1	16563946	.	C	T	19915.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.034;DP=5672;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.33;MQRankSum=-8.109;QD=3.62;ReadPosRankSum=0.15;SOR=0.707	GT:AD:DP:GQ:PL	0/1:367,147:514:99:3151,0,10179	0	0	10	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	0.5	25605.0	1089	chr1	16563989	.	G	C	25605.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.602;DP=7782;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.72;MQRankSum=-3.519;QD=3.37;ReadPosRankSum=0.72;SOR=0.713	GT:AD:DP:GQ:PL	0/1:511,215:726:99:4242,0,13174	0	0	10	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	51922.0	769	chr1	16564144	.	C	T	51922.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.597;DP=5482;ExcessHet=22.563;FS=1.183;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.28;MQRankSum=-17.39;QD=9.75;ReadPosRankSum=-0.081;SOR=0.807	GT:AD:DP:GQ:PL	0/1:272,199:471:99:4644,0,7946	0	0	10	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	0.45	38369.0	743	chr1	16564149	.	C	T	38369.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.237;DP=5102;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=53.19;MQRankSum=6.51;QD=8.24;ReadPosRankSum=-0.21;SOR=0.699	GT:AD:DP:GQ:PL	0/1:374,79:453:99:1032,0,12556	1	0	9	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	0.25	3929.15	330	chr1	16577387	.	T	C	3929.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.94;DP=2502;ExcessHet=2.8389;FS=2.449;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=41.6;MQRankSum=-3.074;QD=3.11;ReadPosRankSum=-1.371;SOR=0.969	GT:AD:DP:GQ:PL	0/1:174,59:233:99:1121,0,4188	5	0	5	0
chr1	16581485	16581485	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	382	1115	25	0	0	25	0.0110865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0003	0.0006	0.0005	0	0.0013	0.0033	0.0068	3.84e-05	1	26028	rs773373678	0.0004	0.0010	0.0003	0.0005	0.0052	0.0004	0.0003	0.0037	0.0032	5.979e-05	0.0002	0.0062	0.0003	0	0.0052	8.099e-05	0.0007	0.0024	0.0004	0.0010	0.0004	0.0005	0.0015	0.0004	0.0003	0.0007	0.0005	2.405e-05	0	0.0003	0.0090	0.0004	0	0.0034	0.0003	0.0009	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	0.014237	0.006494	0.015027	0.017241	0.000000	0.035088	0.010490	0.015748	0.05	901.43	782	chr1	16581485	.	G	A	901.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.768;DP=5273;ExcessHet=0;FS=2.58;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.1;MQRankSum=0.98;QD=1.25;ReadPosRankSum=2.1;SOR=0.693	GT:AD:DP:GQ:PL	0/1:613,111:724:99:913,0,15328	9	0	1	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	6195.93	32	chr1	16759590	.	G	GC	6195.93	.	AC=14;AF=0.7;AN=20;BaseQRankSum=4.12;DP=691;ExcessHet=0.6204;FS=9.451;InbreedingCoeff=0.0476;MLEAC=14;MLEAF=0.7;MQ=43.53;MQRankSum=-1.968;QD=12.62;ReadPosRankSum=-3.002;SOR=0.893	GT:AD:DP:GQ:PL	0/1:67,10:77:99:123,0,2149	1	5	4	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	12275.9	45	chr1	26282323	.	A	*	12275.9	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.395;DP=333;ExcessHet=0;FS=12.7;InbreedingCoeff=-0.0526;MLEAC=4;MLEAF=0.2;MQ=59.87;MQRankSum=0;QD=24.48;ReadPosRankSum=-0.278;SOR=1.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,4:30:57:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1236,1077,1070:26282320	6	0	4	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	8079.96	55	chr1	26282334	.	TGGGGCCG	*	8079.96	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.35;DP=378;ExcessHet=4.5998;FS=16.733;InbreedingCoeff=-0.4286;MLEAC=3;MLEAF=0.15;MQ=59.89;MQRankSum=0;QD=22.51;ReadPosRankSum=-0.863;SOR=1.402	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,4:36:39:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1433,1286,1323:26282320	7	0	3	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	7970.94	64	chr1	26282344	.	ACCGGGACCGGGACTGGG	*	7970.94	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.886;DP=414;ExcessHet=4.5998;FS=13.964;InbreedingCoeff=-0.4286;MLEAC=3;MLEAF=0.15;MQ=59.9;MQRankSum=0;QD=20.39;ReadPosRankSum=0.282;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,4:36:36:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1429,1290,1373:26282320	7	0	3	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	2219.09	64	chr1	26282357	.	CTGGGGCCGGG	*	2219.09	.	AC=14;AF=0.7;AN=20;DP=410;ExcessHet=1.5895;FS=14.029;InbreedingCoeff=-0.25;MLEAC=14;MLEAF=0.7;MQ=60;QD=5.92;SOR=1.36	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,32:36:99:1|1:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1393,99,0:26282320	0	4	6	0
chr1	27306199	27306199	C	G	exonic	WDTC1	.	nonsynonymous SNV	WDTC1:NM_001276252:exon16:c.C1850G:p.T617R,WDTC1:NM_015023:exon16:c.C1847G:p.T616R	.	419	1075	26	2	0	30	0.0137615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00497530531623	0.0005	0.00239617	0.0016	0.0004	0.0003	0	0.0005	0.0012	0.0022	0.0065	0.0015071	233	154602	rs140564293	0.0012	0.0012	0.0010	0.0013	0.0073	0.0011	0.0011	0.0068	0.0066	5.974e-05	0.0003	0.0082	0	0.0003	0.0059	0.0006	0.0017	0.0073	0.0009	0.0009	0.0007	0.0011	0.0077	0.0008	0.0007	0.0057	0.0050	7.218e-05	0	0.0007	0.0072	0.0002	0.0002	0.0034	0.0008	0.0019	0.0077	0.405	0.10311	T	0.441	0.13290	T	0.001	0.09854	B	0.0	0.04355	B	0.000015	0.62929	D	0.145244	0.947591	0.37575	D	0	0.06538	N	0.11	0.61208	T	-0.11	0.08653	N	0.182	0.19728	-1.0273	0.21331	T	0.050	0.21104	T	10	0.007212788	0.00164	T	0.004975	0.12535	T	0.041	0.10877	.	.	0.043077524339	0.03247	0.44393923415366376	0.44311	1.02241643155	0.75166	0.718167483807	0.69780	T	0.131349	0.46078	T	-0.465196	0.00912	T	-0.43797	0.29036	T	0.0128237361313397	0.00218	T	0.90111	0.65631	D	0.10437623	0.24675	0.121083185	0.29216	0.10437623	0.24675	0.121083185	0.29216	-7.719	0.59140	D	.	.	0.125	0.33596	B	.;.	.;.	4.076456	0.60605	24.2	0.94675613193340502	0.25305	0.96925	0.71691	D	AEFGBI	0.707001	0.66188	D	-0.29735598055378	0.29251	1.620429	-0.0393699762763489	0.37954	2.229351	0.999999695291189	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	4.8	4.8	0.61157	3.825000	0.55430	5.836000	0.50206	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.998000	0.85391	0.2869:0.713:0.0:0.0	10.986	0.46737	356	0.85138	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	0.005539	0.000000	0.001359	0.000000	0.000000	0.000000	0.012195	0.015152	0.05	961.43	38	chr1	27306199	.	C	G	961.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.66;DP=422;ExcessHet=0;FS=1.663;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=2.56;SOR=0.493	GT:AD:DP:GQ:PL	0/1:59,41:100:99:973,0,1510	9	0	1	0
chr1	29275715	29275715	G	T	exonic	PTPRU	.	nonsynonymous SNV	PTPRU:NM_001195001:exon8:c.G1412T:p.R471L,PTPRU:NM_005704:exon8:c.G1412T:p.R471L,PTPRU:NM_133177:exon8:c.G1412T:p.R471L,PTPRU:NM_133178:exon8:c.G1412T:p.R471L	.	433	1052	36	1	0	38	0.0177404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	0.0052	0.00638978	0.0095	0.0008	0.0170	0.0013	0.0120	0.0086	0.0067	0.0172	0.0086092	1331	154602	rs35745442	0.0071	0.0071	0.0067	0.0074	0.0244	0.0069	0.0069	0.0212	0.0199	0.0010	0.0165	0.0105	0.0012	0.0125	0.0244	0.0057	0.0092	0.0177	0.0061	0.0061	0.0056	0.0067	0.0176	0.0058	0.0057	0.0146	0.0135	0.0009	0	0.0110	0.0098	0.0015	0.0133	0.0068	0.0065	0.0066	0.0176	0.166	0.24564	T	0.009	0.67890	D	0.912	0.53479	P	0.219	0.44178	B	0.000031	0.55875	D	0.069695	0.999525	0.47407	D	2.275	0.64647	M	0.64	0.52867	T	-4.39	0.77225	D	0.647	0.65844	-0.8413	0.52560	T	0.127	0.43380	T	9	0.009268105	0.00209	T	.	.	.	0.192	0.47115	.	.	0.24933006939	0.24537	0.6364288534790301	0.63576	0.72036751428	0.62177	0.577766299248	0.49771	T	0.327914	0.69838	T	-0.369222	0.03633	T	-0.289512	0.45823	T	0.0330116464804545	0.02473	T	0.987868	0.95886	D	0.38455072	0.59643	0.32482594	0.58403	0.38998896	0.60031	0.32482594	0.58402	-8.927	0.67704	D	.	.	0.231	0.46779	B	.;.;.;.	.;.;.;.	4.957788	0.81954	27.7	0.99732887324895736	0.82904	0.97459	0.74885	D	AEFBI	0.933729	0.92606	D	0.571116940105998	0.71377	5.641609	0.620875087269441	0.76457	6.494692	0.999927777652176	0.46280	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.4	5.4	0.77957	7.238000	0.77628	7.637000	0.63009	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.531	0.90944	371	0.84287	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.015152	0.006793	0.023392	0.050000	0.008621	0.018293	0.015152	0.05	1104.43	35	chr1	29275715	.	G	T	1104.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.554;DP=401;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.06;SOR=0.643	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1116,0,969	9	0	1	0
chr1	31672480	31672480	G	A	exonic	COL16A1	.	nonsynonymous SNV	COL16A1:NM_001856:exon47:c.C3041T:p.P1014L	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.203094384251	.	.	4.972e-05	0	0	0	0	8.996e-05	0	0	3.88e-05	6	154602	rs201592828	3.831e-05	3.831e-05	3.267e-05	4.4e-05	0.0001	3.025e-05	2.719e-05	5.805e-05	3.952e-05	2.987e-05	0.0001	0.0001	0	0	0	3.147e-05	0.0001	2.319e-05	3.285e-05	3.283e-05	3.854e-05	2.69e-05	0.0001	1.261e-05	7.98e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	4.41e-05	0	0	0.016	0.58626	D	0.025	0.56192	D	0.0	0.02946	B	0.001	0.04355	B	0.053992	0.22762	N	0.468738	0.999997	0.08975	N	2.445	0.70938	M	-4.51	0.97672	D	-1.6	0.70553	N	0.113	0.10056	0.644	0.92465	D	0.890	0.96335	D	10	0.36017528	0.52668	T	0.203094	0.86857	D	0.367	0.68670	.	.	0.779824653679	0.77779	0.3004419152501345	0.29957	0.159810246619	0.18033	0.436811745167	0.30141	T	0.03539	0.23699	T	0.00325263	0.52102	T	-0.0354612	0.68006	D	0.0542824983268553	0.06237	T	0.335566	0.18382	T	0.046245262	0.07707	0.050649278	0.07992	0.046245262	0.07707	0.050649278	0.07992	-3.94	0.22903	T	.	.	0.07	0.03479	B	.;.	.;.	1.434191	0.18528	13.79	0.71911294523934299	0.09791	0.04857	0.10593	N	AEFDBHI	0.079322	0.16019	N	-0.553919058771677	0.20361	1.072777	-0.65894919550074	0.17990	0.9591237	0.999998130233323	0.74766	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.45	2.54	0.29674	0.967000	0.28941	2.028000	0.30240	0.676000	0.76740	0.011000	0.18532	0.982000	0.30508	0.018000	0.11154	0.108:0.0:0.6791:0.2129	4.878	0.13021	759	0.50631	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1246.43	36	chr1	31672480	.	G	A	1246.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=427;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.823;SOR=0.776	GT:AD:DP:GQ:PL	0/1:65,53:118:99:1258,0,1465	9	0	1	0
chr1	32207442	32207442	C	G	exonic	IQCC	.	nonsynonymous SNV	IQCC:NM_001160042:exon5:c.C1001G:p.P334R,IQCC:NM_018134:exon5:c.C761G:p.P254R	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00191194288042	7.7e-05	.	0.0002	0	8.691e-05	0	0	0.0003	0	6.085e-05	0.0001682	26	154602	rs375598262	0.0001	0.0001	0.0001	0.0002	0.0010	0.0001	0.0001	0.0005	0.0003	2.987e-05	0.0002	7.653e-05	0	0	0.0010	0.0002	0.0002	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0002	9.151e-05	7.706e-05	0.0001	9.901e-05	4.819e-05	0	0.0002	0	0	0	0.0034	0.0002	0.0005	0	0.013	0.58626	D	0.036	0.57587	D	0.001	0.07471	B	0.005	0.11217	B	0.036323	0.01816	N	2.152990	1	0.08975	N	0.97	0.24054	L	2.65	0.12676	T	-2.71	0.57762	D	0.082	0.06720	-0.9949	0.31326	T	0.020	0.08500	T	10	0.040947467	0.02707	T	0.001912	0.03377	T	0.041	0.10877	.	.	0.0138822411134	0.00435	0.0547202244965055	0.05413	0.0821638459929	0.09262	0.240643918514	0.02849	T	0.004912	0.04332	T	-0.556117	0.00268	T	-0.724221	0.04595	T	0.0306053340206516	0.02083	T	0.450755	0.12737	T	0.076394714	0.17274	0.0743323	0.16250	0.076394714	0.17274	0.0743323	0.16249	-3.273	0.14589	T	.	.	0.093	0.17317	B	.;.	.;.	0.926538	0.13016	9.521	0.72227951581247041	0.09900	0.03172	0.08149	N	AEFDGBCI	0.035225	0.04498	N	-1.17767507233897	0.05338	0.2431226	-1.26845253546914	0.04863	0.2304285	0.999979118373796	0.50053	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	3.81	-3.73	0.04112	-0.555000	0.06089	-0.193000	0.11018	0.531000	0.24825	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.2704:0.2365:0.3017:0.1915	0.743	0.00915	443	0.79878	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.05	1536.43	34	chr1	32207442	.	C	G	1536.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.173;DP=502;ExcessHet=0;FS=3.535;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=1.42;SOR=0.623	GT:AD:DP:GQ:PL	0/1:90,79:169:99:1548,0,2161	9	0	1	0
chr1	37887425	37887428	GAAA	-	exonic	INPP5B	.	frameshift deletion	INPP5B:NM_001297434:exon5:c.445_448del:p.F149Tfs*26,INPP5B:NM_001350227:exon5:c.277_280del:p.F93Tfs*26,INPP5B:NM_001350228:exon8:c.277_280del:p.F93Tfs*26,INPP5B:NM_001365822:exon10:c.871_874del:p.F291Tfs*26,INPP5B:NM_001365825:exon10:c.580_583del:p.F194Tfs*26,INPP5B:NM_001365820:exon11:c.937_940del:p.F313Tfs*26,INPP5B:NM_001365821:exon11:c.931_934del:p.F311Tfs*26,INPP5B:NM_005540:exon11:c.937_940del:p.F313Tfs*26,INPP5B:NM_001365823:exon12:c.742_745del:p.F248Tfs*26,INPP5B:NM_001365824:exon12:c.742_745del:p.F248Tfs*26	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs757917377	6.844e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1613.39	36	chr1	37887424	.	TGAAA	T	1613.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=439;ExcessHet=0;FS=1.511;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.919;SOR=0.547	GT:AD:DP:GQ:PL	0/1:74,44:118:99:1625,0,2954	9	0	1	0
chr1	41484167	41484167	G	A	exonic	EDN2	.	nonsynonymous SNV	EDN2:NM_001302269:exon2:c.C101T:p.A34V,EDN2:NM_001956:exon2:c.C101T:p.A34V	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0122651103636	0.0045	0.00279553	0.0027	0.0082	0.0009	0	0.0010	0.0032	0.0012	0.0009	0.0027749	429	154602	rs41269471	0.0040	0.0040	0.0041	0.0039	0.0070	0.0039	0.0039	0.0063	0.0060	0.0070	0.0013	0.0005	2.519e-05	0.0013	0.0008	0.0046	0.0033	0.0010	0.0040	0.0040	0.0040	0.0039	0.0070	0.0037	0.0036	0.0064	0.0061	0.0070	0.0110	0.0022	0.0003	0	0.0009	0	0.0036	0.0014	0.0019	0.064	0.36509	T	0.108	0.37589	T	0.01	0.15535	B	0.005	0.11217	B	0.457989	0.12426	N	0.778015	1	0.08975	N	0.805	0.20218	L	-1.83	0.84122	D	-1.76	0.41618	N	0.044	0.01658	-0.8449	0.52318	T	0.248	0.61681	T	10	0.0042301714	0.00085	T	0.012265	0.30673	T	0.222	0.51872	.	.	0.613916450604	0.61080	0.3829799047832118	0.38212	0.102315109398	0.11580	0.310961782932	0.12052	T	0.174788	0.52413	T	-0.528483	0.00392	T	-0.526778	0.19610	T	0.00291602631789837	0.00030	T	0.432757	0.11777	T	0.039640546	0.05511	0.052177876	0.08547	0.039640546	0.05511	0.052177876	0.08546	-4.63	0.32546	T	.	.	0.075	0.05447	B	.	.	0.284610	0.06614	3.107	0.954432609125343	0.26952	0.11837	0.16893	N	AEFGBCI	0.091843	0.18600	N	-1.37567682903136	0.02867	0.1272399	-1.47596202287783	0.02543	0.1171249	0.999996142406548	0.74766	0.615755	0.39536	0	0.61073	0.52368	0	0.618376	0.41669	0	0.613276	0.41899	0	.	.	5.09	-5.41	0.02442	0.245000	0.17917	-1.147000	0.06192	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2125:0.2115:0.2525:0.3235	0.461	0.00482	463	0.78548	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	822.43	37	chr1	41484167	.	G	A	822.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.127;DP=434;ExcessHet=0;FS=2.045;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.799;SOR=0.427	GT:AD:DP:GQ:PL	0/1:33,36:69:99:834,0,777	9	0	1	0
chr1	45088040	45088040	G	A	exonic	ZSWIM5	.	nonsynonymous SNV	ZSWIM5:NM_020883:exon2:c.C793T:p.R265C	.	432	1079	10	1	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.0767974187746	0.0041	0.00239617	0.0027	0.0008	0.0029	0	0.0008	0.0038	0.0033	0.0014	0.0028266	437	154602	rs116809634	0.0043	0.0043	0.0044	0.0042	0.0087	0.0042	0.0042	0.0068	0.0061	0.0008	0.0030	0.0021	2.519e-05	0.0004	0.0087	0.0050	0.0047	0.0011	0.0032	0.0032	0.0035	0.0029	0.0052	0.0030	0.0029	0.0048	0.0046	0.0012	0	0.0040	0.0014	0	0.0007	0.0068	0.0052	0.0033	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.885	0.83555	M	0.64	0.52867	T	-5.87	0.88630	D	0.89	0.88909	-0.3013	0.74949	T	0.271	0.64277	T	10	0.03297335	0.01461	T	0.076797	0.72618	D	0.598	0.84074	.	.	0.858212518775	0.85684	0.7835790356711932	0.78308	0.550900486598	0.51946	0.836088776588	0.87498	D	0.572703	0.85878	D	-0.00590948	0.50838	T	0.220654	0.84205	D	0.0301943757762457	0.02019	T	0.956004	0.83260	D	0.6396926	0.74814	0.48607525	0.70255	0.6396926	0.74815	0.48607525	0.70255	-10.288	0.75618	D	.	.	0.681	0.72201	P	.	.	5.622251	0.92614	32	0.99934805239166158	0.99579	0.99230	0.93150	D	AEFBI	0.946912	0.95689	D	0.902704048203018	0.91890	11.11985	0.839654726346057	0.92398	11.40319	0.999999700124564	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.61	4.61	0.56724	10.003000	0.99689	8.605000	0.77744	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.335	0.90227	407	0.82314	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.005051	0.013587	0.005848	0.000000	0.000000	0.009146	0.000000	0.05	1890.43	34	chr1	45088040	.	G	A	1890.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.475;DP=476;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.537;SOR=0.668	GT:AD:DP:GQ:PL	0/1:77,78:155:99:1902,0,1731	9	0	1	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4519.12	9	chr1	50419106	.	G	*	4519.12	.	AC=4;AF=0.2;AN=20;DP=185;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=4;MLEAF=0.2;MQ=59.68;QD=26.27;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,6:8:45:0|1:50419101_CCGGCGG_C:220,0,45:50419101	6	0	4	0
chr1	54813813	54813813	-	A	splicing	LEXM	NM_152607:exon7:c.763-1->A;NM_001110533:exon7:c.763-1->A	.	.	.	425	1015	81	1	0	83	0.0392806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.00778754	0.0106	0.0026	0.0041	0	0.0076	0.0104	0.0161	0.0281	0.0029968	78	26028	rs1308898806	0.0091	0.0091	0.0084	0.0097	0.0266	0.0089	0.0089	0.0257	0.0253	0.0012	0.0037	0.0030	2.534e-05	0.0099	0.0248	0.0085	0.0089	0.0266	0.0066	0.0066	0.0062	0.0070	0.0245	0.0063	0.0061	0.0209	0.0196	0.0016	0.0033	0.0035	0.0032	0.0002	0.0096	0.0103	0.0093	0.0081	0.0245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	566.1	44	chr1	54813813	.	G	GA	566.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.989;DP=323;ExcessHet=0.2348;FS=3.528;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=-0.647;SOR=1.189	GT:AD:DP:GQ:PL	0/1:17,6:23:99:105,0,442	8	0	2	0
chr1	62654023	62654023	C	T	exonic	DOCK7	.	nonsynonymous SNV	DOCK7:NM_001271999:exon3:c.G281A:p.R94Q,DOCK7:NM_001272000:exon3:c.G281A:p.R94Q,DOCK7:NM_001272001:exon3:c.G281A:p.R94Q,DOCK7:NM_001272002:exon3:c.G281A:p.R94Q,DOCK7:NM_001330614:exon3:c.G281A:p.R94Q,DOCK7:NM_001367561:exon3:c.G281A:p.R94Q,DOCK7:NM_033407:exon3:c.G281A:p.R94Q	Epileptic encephalopathy, early infantile, 23, Autosomal recessive	434	1087	1	0	0	1	0.00045977	.	.	.	732547	Developmental_and_epileptic_encephalopathy,_23|not_provided	MONDO:MONDO:0014371,MedGen:C4014492,OMIM:615859,Orphanet:411986|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.301	.	.	0.00319489	0.0017	0	8.721e-05	0	0	7.515e-05	0.0022	0.0121	0.0014618	226	154602	rs570514826	0.0008	0.0008	0.0005	0.0012	0.0126	0.0008	0.0008	0.0120	0.0117	8.962e-05	4.474e-05	0	7.561e-05	0	0.0009	6.835e-05	0.0009	0.0126	0.0005	0.0005	0.0002	0.0008	0.0147	0.0004	0.0004	0.0120	0.0110	0	0	0	0	0.0002	0	0	1.471e-05	0	0.0147	0.003	0.72154	D	0.005	0.72224	D	0.998	0.73220	D	0.948	0.68536	D	0.000000	0.84330	D	0.044896	1	0.81001	D	2.675	0.78361	M	0.28	0.59037	T	-2.9	0.68999	D	0.911	0.93487	-0.3914	0.72297	T	0.357	0.71967	T	10	0.007990241	0.00181	T	.	.	.	0.301	0.62179	0.599	0.72984	0.626022771783	0.62297	0.7785082929031828	0.77800	0.831224666612	0.67627	0.562829732895	0.47667	T	0.401358	0.75868	T	-0.133251	0.30972	T	0.0468484	0.73376	D	0.105697195975679	0.12971	T	0.89741	0.64114	D	0.4698182	0.65279	0.26132175	0.51908	0.48545063	0.66230	0.27608937	0.53550	-2.097	0.07455	T	.	.	0.327	0.68817	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.126802	0.85775	28.7	0.99961524852797257	0.99998	0.97780	0.77079	D	AEFBI	0.842581	0.75968	D	0.836207887043784	0.88308	9.530264	0.798774955109887	0.89707	10.08774	0.99999999963592	0.74766	0.638212	0.43195	0	0.546412	0.12157	0	0.653264	0.51672	0	0.645948	0.59608	0	.	.	5.16	5.16	0.70563	7.545000	0.81074	7.638000	0.63056	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.818	0.92051	867	0.32089	.;.;.;.;.;Dedicator of cytokinesis C/D, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	768.43	37	chr1	62654023	.	C	T	768.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.752;SOR=0.736	GT:AD:DP:GQ:PL	0/1:29,32:61:99:780,0,618	9	0	1	0
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	358.95	87	chr1	85158755	.	A	G	358.95	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.747;DP=688;ExcessHet=0.7463;FS=75.313;InbreedingCoeff=-0.2081;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=0.195;SOR=8.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,11:52:99:1|0:85158731_C_CA:144,0,1335:85158731	7	0	3	0
chr1	85158757	85158757	C	T	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578A:p.S1193N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0109281839246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.081	0.41742	T	0.958	0.54977	D	0.477	0.46994	P	0.000003	0.62929	D	0.141141	0.841424	0.28625	N	2.89	0.83701	M	3.01	0.09075	T	-1.36	0.33798	N	0.206	0.22870	-1.0896	0.05599	T	0.013	0.05273	T	10	0.1897026	0.34581	T	0.010928	0.28020	T	0.125	0.34456	0.093	0.01151	0.236890367714	0.23314	0.17515521952640145	0.17434	0.264699697906	0.29017	0.548633217812	0.45665	T	0.019491	0.15519	T	-0.177965	0.24039	T	-0.493411	0.23033	T	0.97476464509964	0.70646	D	0.379762	0.09155	T	0.4281341	0.62630	0.3544614	0.60990	0.4281341	0.62630	0.3544614	0.60990	-4.729	0.33754	T	.	.	0.092	0.13783	B	.	.	2.612422	0.33929	19.48	0.99246127042489396	0.56727	0.95586	0.65314	D	AEFGBI	0.675178	0.64065	D	0.296660874281403	0.55980	3.76211	0.369003311841199	0.59662	4.145805	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1448.14	72	chr1	85158757	.	C	T	1448.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.334;DP=723;ExcessHet=15.1594;FS=160.488;InbreedingCoeff=-0.8658;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.56;ReadPosRankSum=0.981;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,11:52:99:1|0:85158731_C_CA:144,0,1335:85158731	8	0	2	0
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	4548.25	276	chr1	86580219	.	ACCTACT	*	4548.25	.	AC=14;AF=0.7;AN=20;BaseQRankSum=-0.525;DP=2733;ExcessHet=2.8389;FS=1.255;InbreedingCoeff=-0.3333;MLEAC=14;MLEAF=0.7;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=0.846;SOR=0.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:157,124:281:99:.:.:4537,0,5897:.	1	5	4	0
chr1	89582688	89582691	CCCA	-	exonic	LRRC8B	.	frameshift deletion	LRRC8B:NM_001369817:exon5:c.38_41del:p.A13Gfs*7,LRRC8B:NM_001369819:exon6:c.38_41del:p.A13Gfs*7,LRRC8B:NM_001134476:exon7:c.38_41del:p.A13Gfs*7,LRRC8B:NM_015350:exon8:c.38_41del:p.A13Gfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	98.39	35	chr1	89582687	.	GCCCA	G	98.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2;DP=391;ExcessHet=0;FS=29.088;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=0.677;SOR=4.951	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,13:83:99:0|1:89582687_GCCCA_G:110,0,2645:89582687	9	0	1	0
chr1	89582689	89582689	C	0	exonic	LRRC8B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4355.93	35	chr1	89582689	.	C	*	4355.93	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=481;ExcessHet=0.0405;FS=0.555;InbreedingCoeff=0.375;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.3;ReadPosRankSum=-0.496;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,13:83:99:1|0:89582687_GCCCA_G:2381,1922,2645:89582687	9	0	1	0
chr1	89582691	89582691	-	TTTG	exonic	LRRC8B	.	frameshift insertion	LRRC8B:NM_001369817:exon5:c.41_42insTTTG:p.Q14Hfs*51,LRRC8B:NM_001369819:exon6:c.41_42insTTTG:p.Q14Hfs*51,LRRC8B:NM_001134476:exon7:c.41_42insTTTG:p.Q14Hfs*51,LRRC8B:NM_015350:exon8:c.41_42insTTTG:p.Q14Hfs*51	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	98.39	35	chr1	89582691	.	A	ATTTG	98.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.992;DP=475;ExcessHet=0;FS=29.088;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=0.356;SOR=4.951	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,13:83:99:0|1:89582687_GCCCA_G:110,0,2645:89582687	9	0	1	0
chr1	99881109	99881109	A	G	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon15:c.A1933G:p.T645A,AGL:NM_000642:exon15:c.A1933G:p.T645A,AGL:NM_000643:exon15:c.A1933G:p.T645A,AGL:NM_000644:exon15:c.A1933G:p.T645A,AGL:NM_000646:exon15:c.A1885G:p.T629A	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	516123	Glycogen_storage_disease_type_III|not_provided	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.222	0.0158302128751	.	.	4.947e-05	0	8.687e-05	0	0	7.497e-05	0	0	7.12e-05	11	154602	rs576969969	5.063e-05	5.062e-05	4.357e-05	5.776e-05	0.0004	4.126e-05	3.779e-05	0.0002	0.0002	0	0.0004	0.0002	0	0	0.0003	2.968e-05	0.0001	0.0001	5.258e-05	5.254e-05	3.855e-05	6.726e-05	0.0002	2.558e-05	1.83e-05	5.287e-05	2.835e-05	0	0	0.0002	0.0003	0	0	0	4.41e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.04355	B	0.000001	0.62929	D	0.098546	0.928607	0.27116	N	-2.735	0.00029	N	-1.69	0.82985	D	3.15	0.00121	N	0.406	0.44952	-0.9495	0.41058	T	0.045	0.19437	T	10	0.06758392	0.09438	T	0.01583	0.36777	T	0.222	0.51872	0.602	0.73346	0.717622369731	0.71514	0.41927865779125334	0.41843	0.0405049159976	0.04339	0.355544745922	0.18736	T	0.085475	0.37509	T	-0.298889	0.08764	T	-0.350954	0.39097	T	0.0457085811075749	0.04731	T	0.80112	0.46793	T	0.05034634	0.09082	0.05491873	0.09536	0.05034634	0.09081	0.05491873	0.09536	2.418	0.00035	T	0.06861885834221801	0.02506	0.056	0.00470	B	.;.;.;.;.	.;.;.;.;.	1.372198	0.17825	13.39	0.13762743206219819	0.00282	0.52448	0.29134	D	AEFBI	0.065726	0.12835	N	-0.838138258941096	0.12343	0.6010989	-0.569308984161782	0.20295	1.092799	4.63100418470655E-4	0.07066	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.9	4.77	0.60425	4.555000	0.60477	4.634000	0.44128	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.220000	0.22462	0.7363:0.0:0.1366:0.1271	5.560	0.16421	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.025862	0.000000	0.000000	0.05	669.43	47	chr1	99881109	.	A	G	669.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.751;DP=388;ExcessHet=0;FS=1.01;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.37;SOR=0.544	GT:AD:DP:GQ:PL	0/1:26,30:56:99:681,0,533	9	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	.	.	.	.	.	.	.	.	0.3571	1445.29	96	chr1	109508616	.	G	C	1445.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.994;DP=840;ExcessHet=2.8389;FS=240.489;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=2.91;ReadPosRankSum=1.33;SOR=9.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,23:101:99:0|1:109508616_G_C:180,0,1906:109508616	2	0	5	3
chr1	110949885	110949885	G	C	exonic	LRIF1	.	nonsynonymous SNV	LRIF1:NM_001006945:exon2:c.C227G:p.T76R,LRIF1:NM_018372:exon3:c.C1835G:p.T612R	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0209892720318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.447	0.36101	T	0.078	0.37927	B	0.118	0.41660	B	0.325441	0.14201	N	0.673920	1	0.08975	N	2.08	0.57402	M	1.91	0.31470	T	-1.22	0.41618	N	0.194	0.29081	-1.0451	0.15796	T	0.034	0.14813	T	10	0.08899155	0.15375	T	0.020989	0.43686	T	0.042	0.11227	0.147	0.05039	0.510758216515	0.50715	0.18596798790837074	0.18514	0.392744924576	0.40454	0.373809695244	0.21377	T	0.047302	0.27682	T	-0.186225	0.22814	T	-0.505276	0.21801	T	0.296376117410699	0.24854	T	0.735226	0.35154	T	0.07448203	0.16716	0.09102388	0.21379	0.07448203	0.16716	0.09102388	0.21379	-4.48	0.30626	T	0.21689145730599693	0.29182	0.106	0.24934	B	.;.;.	.;.;.	2.084065	0.26508	17.14	0.97828875922411263	0.36246	0.29413	0.23815	N	AEFGBI	0.119995	0.23396	N	-0.387048147501053	0.25930	1.411299	-0.408242646252422	0.24755	1.357	0.177658675517435	0.17826	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	3.77	0.42499	2.389000	0.44060	6.609000	0.56081	0.656000	0.54149	0.073000	0.22155	0.999000	0.35428	0.980000	0.58198	0.086:0.0:0.7477:0.1664	7.287	0.25520	625	0.65529	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1887.43	36	chr1	110949885	.	G	C	1887.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.879;DP=450;ExcessHet=0;FS=3.018;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.23;SOR=0.477	GT:AD:DP:GQ:PL	0/1:70,74:144:99:1899,0,1674	9	0	1	0
chr1	111414961	111414961	A	0	exonic	OVGP1	.	.	.	.	423	578	414	100	7	621	0.346893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1571.06	110	chr1	111414961	.	A	*	1571.06	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.5;DP=805;ExcessHet=0.2065;FS=0.523;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=2.12;SOR=0.756	GT:AD:DP:GQ:PL	0/1:58,41:99:99:1517,0,2161	6	0	4	0
chr1	111414970	111414970	A	0	exonic	OVGP1	.	.	.	.	427	574	414	100	7	621	0.348468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1837.02	110	chr1	111414970	.	A	*	1837.02	.	AC=4;AF=0.2;AN=20;DP=807;ExcessHet=0.2065;FS=0;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=60;QD=4.32;SOR=0.707	GT:AD:DP:GQ:PL	0/1:58,41:99:99:1517,0,2161	6	0	4	0
chr1	112550624	112550624	G	A	exonic	ST7L	.	nonsynonymous SNV	ST7L:NM_001308264:exon12:c.C917T:p.T306M,ST7L:NM_017744:exon13:c.C1466T:p.T489M,ST7L:NM_138727:exon13:c.C1415T:p.T472M,ST7L:NM_138729:exon13:c.C1466T:p.T489M	.	436	1084	2	0	0	2	0.000921659	.	.	.	2340471	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.124	0.0344226869785	0.0002	0.000199681	0.0003	0	0.0003	0	0	0.0003	0	0.0007	0.0002264	35	154602	rs142542242	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0006	0.0005	0	0.0002	0.0026	2.525e-05	1.874e-05	0.0012	4.589e-05	0.0003	0.0007	0.0001	0.0001	0.0001	8.066e-05	0.0006	7.092e-05	5.748e-05	0.0002	9.022e-05	0	0	6.54e-05	0.0017	0	0	0	0.0001	0	0.0006	0.092	0.35349	T	0.013	0.63918	D	0.945	0.62824	P	0.594	0.55619	P	0.000018	0.62929	N	0.154235	0.998636	0.81001	D	2.19	0.61577	M	2.1	0.19990	T	-1.93	0.45042	N	0.278	0.33250	-1.1378	0.01443	T	0.044	0.18989	T	10	0.025365531	0.00733	T	0.034423	0.55668	D	0.124	0.34239	.	.	0.416075642716	0.41223	0.7062561368893706	0.70567	0.105421430859	0.11918	0.400207340717	0.25098	T	0.00414	0.03552	T	-0.464921	0.00915	T	-0.53801	0.18493	T	0.0714610188314061	0.08855	T	0.835416	0.50550	T	0.034370888	0.03843	0.0786793	0.17644	0.034370888	0.03843	0.0786793	0.17644	-4.362	0.29367	T	.	.	0.069	0.07365	B	.;.;.;.;.	.;.;.;.;.	3.242385	0.44262	21.9	0.99586771746513525	0.73336	0.92094	0.54931	D	AEFBI	0.470120	0.51621	N	-0.0249598787395297	0.40727	2.423673	-0.00978336657672146	0.39272	2.325983	0.0299660617270688	0.13916	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.69	2.81	0.31971	2.954000	0.48806	5.191000	0.47899	-1.611000	0.00880	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.1364:0.0:0.7434:0.1202	9.357	0.37338	860	0.33753	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05	191.43	34	chr1	112550624	.	G	A	191.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.18;DP=315;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.84;ReadPosRankSum=1.37;SOR=0.775	GT:AD:DP:GQ:PL	0/1:17,11:28:99:203,0,394	9	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	.	.	.	.	.	.	.	.	0.5	2536.04	155	chr1	114732648	.	C	G	2536.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.921;DP=1438;ExcessHet=22.563;FS=272.517;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=1.34;SOR=12.553	GT:AD:DP:GQ:PL	0/1:78,44:133:99:426,0,842	0	0	10	0
chr1	119755490	119755490	G	C	exonic	HMGCS2	.	nonsynonymous SNV	HMGCS2:NM_001166107:exon5:c.C998G:p.S333C,HMGCS2:NM_005518:exon6:c.C1124G:p.S375C	HMG-CoA synthase-2 deficiency, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	276465	not_provided|3-hydroxy-3-methylglutaryl-CoA_synthase_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0011614,MedGen:C2751532,OMIM:605911,Orphanet:35701|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.578	.	0.0004	0.00399361	0.0019	0.0002	0.0003	0	0	0.0002	0.0011	0.0127	0.0016753	259	154602	rs151328418	0.0010	0.0010	0.0006	0.0013	0.0128	0.0009	0.0009	0.0122	0.0120	0.0002	8.944e-05	7.652e-05	2.519e-05	0	0.0026	0.0002	0.0010	0.0128	0.0006	0.0006	0.0004	0.0009	0.0141	0.0005	0.0005	0.0114	0.0104	7.219e-05	0	0.0002	0	0	9.42e-05	0	0.0003	0.0009	0.0141	0.011	0.55530	D	0.017	0.60337	D	1.0	0.90584	D	0.998	0.88582	D	0.001595	0.38554	N	0.185657	0.999968	0.52935	D	2.23	0.63091	M	-1.17	0.78199	T	-2.28	0.50830	N	0.864	0.86404	0.076	0.83737	D	0.542	0.83122	D	10	0.013461292	0.00285	T	.	.	.	0.578	0.82968	.	.	0.914753015564	0.91389	0.47170183242617564	0.47089	0.509296270345	0.49072	0.528510212898	0.42824	T	0.541205	0.84295	D	-0.137979	0.30211	T	0.0400577	0.72932	D	0.0623311034081158	0.07531	T	0.854615	0.54143	D	0.6254988	0.74057	0.3769495	0.62805	0.57394576	0.71278	0.4756891	0.69618	-9.718	0.72699	D	0.24168275128639305	0.32738	0.171	0.38080	B	.;.	.;.	4.130297	0.61802	24.4	0.98637468825228192	0.44001	0.99315	0.94380	D	AEFGBI	0.972460	0.99427	D	0.730189148890773	0.81611	7.563106	0.679394563703988	0.80818	7.383954	0.999999999996283	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.57	5.57	0.84021	9.401000	0.96640	8.246000	0.76856	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.0:0.0:1.0:0.0	17.401	0.87350	786	0.46839	Hydroxymethylglutaryl-coenzyme A synthase C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1412.43	33	chr1	119755490	.	G	C	1412.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.948;DP=450;ExcessHet=0;FS=2.271;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.487;SOR=0.951	GT:AD:DP:GQ:PL	0/1:75,59:134:99:1424,0,1831	9	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	.	.	.	.	.	.	.	.	0.1111	94.37	81	chr1	144435839	.	C	G	94.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-1.191;DP=651;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=32.81;MQRankSum=-2.458;QD=0.96;ReadPosRankSum=2.2;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,5:55:59:0|1:144435839_C_G:59,0,2077:144435839	7	0	2	1
chr1	146985717	146985717	A	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon26:c.A2852G:p.Y951C	.	471	1032	19	0	0	19	0.00912146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000163214244258	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431147745	0.0012	0.0035	0.0010	0.0014	0.0029	0.0011	0.0011	0.0023	0.0020	0.0029	0.0011	0.0033	0	0.0011	0.0020	0.0010	0.0010	0.0021	0.0002	0.0015	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0004	0	0.0003	0	0.0002	0.0002	0	0.0001	0	0.0002	.	.	.	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.169	0.18649	-0.9519	0.40643	T	0.009	0.03183	T	4	0.08142331	0.13327	T	5.1E-4	0.00163	T	.	.	.	.	0.0716867268079	0.06686	0.00371447489682259	0.00347	.	.	.	.	.	.	.	.	-0.200108	0.20788	T	-0.525218	0.19768	T	0.0803811617759508	0.10036	T	0.957404	0.85901	D	0.08617099	0.20018	0.18917689	0.42250	0.08617099	0.20017	0.18917689	0.42249	-7.722	0.59161	D	.	.	0.376	0.60603	A	.;.;.;.;.	.;.;.;.;.	0.435955	0.08064	4.786	0.32174284863828506	0.01851	0.00255	0.01401	N	AEFI	0.031340	0.03327	N	-0.936343263324024	0.10001	0.4759034	-1.1901068516727	0.06074	0.2912888	1.45338730776636E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-1.562000	0.02260	-3.618000	0.02653	0.178000	0.17791	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	759	0.50631	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	.	.	.	.	.	.	.	.	0.05	76.43	34	chr1	146985717	.	A	G	76.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.04;DP=351;ExcessHet=0;FS=12.129;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=25.56;MQRankSum=-0.151;QD=2.55;ReadPosRankSum=1.32;SOR=3.611	GT:AD:DP:GQ:PL	0/1:24,6:30:88:88,0,629	9	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	.	.	.	.	.	.	.	.	0.35	7396.95	178	chr1	149075685	.	C	A	7396.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=1.26;DP=3367;ExcessHet=7.0302;FS=5.633;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=47.89;MQRankSum=-6.342;QD=2.9;ReadPosRankSum=-2.292;SOR=1.254	GT:AD:DP:GQ:PL	0/1:319,49:368:99:258,0,8144	3	0	7	0
chr1	150553051	150553051	C	T	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001288607:exon5:c.C232T:p.L78F,ADAMTSL4:NM_001288608:exon5:c.C232T:p.L78F,ADAMTSL4:NM_001378596:exon5:c.C232T:p.L78F,ADAMTSL4:NM_019032:exon5:c.C232T:p.L78F,ADAMTSL4:NM_025008:exon5:c.C232T:p.L78F	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	0	1512	9	1	0	11	0.00362438	.	.	.	276584	not_provided|Ectopia_lentis_et_pupillae|Ectopia_lentis_2,_isolated,_autosomal_recessive|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0009153,MedGen:C1644196,OMIM:225200,Orphanet:1885|MONDO:MONDO:0009152,MedGen:C3541474,OMIM:225100,Orphanet:1885|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.00747034602609	0.0003	0.000199681	0.0003	0	0.0003	0	0.0002	0.0003	0.0046	0.0001	0.0002458	38	154602	rs147688134	0.0002	0.0002	0.0002	0.0002	0.0036	0.0002	0.0002	0.0024	0.0021	8.961e-05	0.0004	3.827e-05	0	7.558e-05	0.0036	0.0002	0.0004	0.0003	0.0003	0.0003	0.0003	0.0004	0.0012	0.0003	0.0002	0.0008	0.0006	0	0	0.0012	0	0	9.414e-05	0	0.0005	0	0	0.266	0.18371	T	0.398	0.30045	T	0.986	0.63424	D	0.876	0.62825	P	.	.	.	.	1	0.08975	N	-0.2	0.04182	N	2.19	0.18724	T	-0.68	0.19933	N	0.208	0.34120	-1.0610	0.11508	T	0.025	0.10688	T	9	0.027524263	0.00897	T	0.00747	0.19819	T	0.042	0.11227	.	.	0.305086939656	0.30112	0.11978757738667244	0.11905	0.544725754754	0.51518	0.492609620094	0.37801	T	0.005817	0.05268	T	-0.546218	0.00307	T	-0.681832	0.06872	T	0.0371716211229922	0.03186	T	0.765223	0.39255	T	0.07674326	0.17375	0.06934588	0.14598	0.07674326	0.17375	0.06934588	0.14597	-3.218	0.12701	T	0.44589013935011	0.53057	0.077	0.16756	B	.;.;.;.	.;.;.;.	1.338480	0.17444	13.17	0.99179345625985427	0.54643	0.08901	0.14759	N	AEFDGBCI	0.077601	0.15639	N	-0.477931293276343	0.22805	1.220311	-0.666878272354097	0.17791	0.9475708	0.999999811847463	0.74766	0.608966	0.35542	0	0.550933	0.16991	0	0.584781	0.30282	0	0.505526	0.08623	0	.	.	3.02	2.09	0.26154	0.685000	0.25058	1.398000	0.26172	0.549000	0.26987	0.012000	0.18695	0.524000	0.25326	0.004000	0.06068	0.0:0.8352:0.0:0.1648	5.695	0.17120	114	0.95383	.;.;.;.	.	.	.	.	.	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	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.000000	0.05	384.43	35	chr1	150553051	.	C	T	384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.55;DP=347;ExcessHet=0;FS=1.242;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=1.14;SOR=0.839	GT:AD:DP:GQ:PL	0/1:26,16:42:99:396,0,655	9	0	1	0
chr1	152219623	152219623	A	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.T2006C:p.F669S	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	.	0.00279553	0.0009	0	0.0002	0	0	4.495e-05	0	0.0061	0.0007956	123	154602	rs77790012	0.0004	0.0005	0.0002	0.0006	0.0064	0.0004	0.0004	0.0059	0.0058	0	2.264e-05	0	0.0001	0	0.0002	6.338e-06	0.0004	0.0064	0.0003	0.0004	0.0002	0.0004	0.0096	0.0002	0.0002	0.0072	0.0064	2.695e-05	0	0	0	0.0002	0	0	3.363e-05	0	0.0096	0.125	0.27310	T	0.709	0.05544	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.325	0.00090	N	4.37	0.02277	T	2.95	0.00148	N	0.094	0.07398	-0.9944	0.31459	T	0.001	0.00255	T	9	0.005220473	0.00114	T	.	.	.	0.034	0.08419	.	.	0.295623431141	0.29171	0.033653172035226414	0.03313	.	.	0.560231804848	0.47300	T	0.013727	0.11817	T	-0.410801	0.01963	T	-0.827863	0.01300	T	0.021996538704179	0.00908	T	0.142786	0.01162	T	0.029769693	0.02527	0.0867597	0.20122	0.029769693	0.02526	0.0867597	0.20121	2.422	0.00035	T	.	.	0.069	0.03093	B	.	.	-0.250657	0.02843	0.398	0.56543394743680775	0.05575	0.00010	0.00151	N	AEFBI	0.010405	0.00074	N	-1.43805631999196	0.02312	0.1019549	-1.35977285290676	0.03692	0.1727441	7.52600819089051E-5	0.04552	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.44	2.52	0.29514	-0.631000	0.05593	.	.	-1.235000	0.01322	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1177:0.0:0.8823:0.0	8.714	0.33561	570	0.70478	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.1111	559.37	407	chr1	152219623	.	A	G	559.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=6.43;DP=3906;ExcessHet=0.2348;FS=7.179;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=59;MQRankSum=-16.71;QD=0.56;ReadPosRankSum=-6.535;SOR=1.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:412,44:456:99:0|1:152219622_A_G:485,0,17160:152219622	7	0	2	1
chr1	152219626	152219626	T	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A2003G:p.D668G	.	424	1094	2	0	2	4	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00115791171022	.	.	2.471e-05	0	0	0	0	4.495e-05	0	0	0.00073	19	26028	rs201373508	8.49e-06	0.0001	9.849e-06	7.115e-06	3.53e-05	4.53e-06	3.58e-06	9.38e-06	4.6e-06	0	0	0	0	0	0	7.41e-06	1.742e-05	3.53e-05	4.634e-05	0.0002	7.256e-05	1.895e-05	0.0002	1.755e-05	1.184e-05	3.046e-05	1.262e-05	3.18e-05	0	0.0002	0	0	0	0	4.303e-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	N	-2.49	0.00058	N	3.82	0.03728	T	1.88	0.00467	N	0.075	0.04913	-0.9305	0.44066	T	0.001	0.00287	T	9	0.023259073	0.00603	T	0.001158	0.01459	T	0.022	0.04323	.	.	0.134241683229	0.13084	0.025996270308110095	0.02550	.	.	0.479595899582	0.36001	T	0.01356	0.11709	T	-0.417779	0.01767	T	-0.837887	0.01131	T	0.0233545887119417	0.01065	T	0.194581	0.02117	T	0.026619844	0.01743	0.05906723	0.11022	0.026619844	0.01743	0.05906723	0.11022	1.939	0.00055	T	.	.	0.092	0.13503	B	.	.	-0.821274	0.01066	0.046	0.43249806253065387	0.03243	0.00199	0.01145	N	AEFBI	0.017387	0.00452	N	-1.79079954483704	0.00568	0.02446565	-1.8032040271601	0.00749	0.03338449	3.23504371043759E-4	0.06540	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.44	-4.87	0.02893	-2.060000	0.01480	.	.	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4184:0.2235:0.3581	5.561	0.16427	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	.	.	.	.	.	.	.	.	0.1429	591.24	407	chr1	152219626	.	T	C	591.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=7.01;DP=4096;ExcessHet=0.2348;FS=8.947;InbreedingCoeff=-0.2121;MLEAC=2;MLEAF=0.143;MQ=58.33;MQRankSum=-17.18;QD=0.58;ReadPosRankSum=-8.356;SOR=1.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:422,49:471:99:0|1:152219622_A_G:529,0,17437:152219622	5	0	2	3
chr1	152309371	152309371	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T5515C:p.S1839P	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00131350387666	.	.	8.236e-06	0	0	0	0	0	0	6.056e-05	3.84e-05	1	26028	rs749467652	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	0	1.656e-05	1.159e-05	6.59e-06	6.571e-06	1.287e-05	0	2.423e-05	0	0	.	.	2.423e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	.	.	.	0.967	0.56408	D	0.939	0.67449	D	.	.	.	.	1	0.08975	N	3.07	0.87108	M	3.81	0.03754	T	-3.37	0.66665	D	0.123	0.11483	-1.0746	0.08431	T	0.015	0.06282	T	9	0.15762255	0.29659	T	0.001314	0.01834	T	0.085	0.24743	0.236	0.16608	0.234412748748	0.23057	0.005256197289127799	0.00496	.	.	0.324181675911	0.14054	T	0.094391	0.39408	T	-0.366723	0.03763	T	-0.667694	0.07757	T	0.427180796861649	0.29956	T	0.429357	0.11628	T	0.21445833	0.43852	0.20644914	0.44859	0.21445833	0.43852	0.20644914	0.44858	-7.455	0.57293	T	.	.	0.240	0.47448	B	.	.	1.166331	0.15557	11.94	0.81109478964903425	0.13524	0.00382	0.01931	N	AEFBI	0.047200	0.07920	N	-0.798845838190429	0.13340	0.6564821	-1.13629022954185	0.07016	0.3397664	0.00209953674542018	0.09151	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	-6.13	0.01937	-0.094000	0.11060	.	.	0.361000	0.20101	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.2253:0.1398:0.3615:0.2734	1.354	0.02048	565	0.70868	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	5246.43	399	chr1	152309371	.	A	G	5246.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.31;DP=2674;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.367;SOR=0.632	GT:AD:DP:GQ:PL	0/1:245,213:458:99:5258,0,6421	9	0	1	0
chr1	153547821	153547821	T	C	exonic	S100A3	.	nonsynonymous SNV	S100A3:NM_002960:exon3:c.A167G:p.N56S	.	.	.	.	.	.	.	.	.	.	.	3310161	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.00388295656481	0.0002	.	7.438e-05	0.0002	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs148342748	7.731e-05	7.73e-05	7.215e-05	8.251e-05	0.0003	6.533e-05	6.136e-05	7.311e-05	6.722e-05	0.0001	0	0	0	0	0.0003	8.724e-05	9.936e-05	3.478e-05	9.204e-05	9.194e-05	0.0001	8.075e-05	0.0001	5.53e-05	4.367e-05	6.287e-05	4.302e-05	0.0001	0	6.545e-05	0	0	0	0	0.0001	0	0	0.026	0.46910	D	0.143	0.33219	T	0.046	0.21875	B	0.009	0.14300	B	0.000494	0.43931	N	0.226724	0.847244	0.81001	N	1.87	0.49600	L	2.53	0.14038	T	-0.59	0.17624	N	0.05	0.03841	-1.0342	0.19109	T	0.017	0.06759	T	10	0.061603993	0.07749	T	0.003883	0.09117	T	0.087	0.25287	.	.	0.239901079897	0.23603	0.12192262479882929	0.12119	0.0464318094695	0.05045	0.318187117577	0.13146	T	0.012198	0.10762	T	-0.531894	0.00374	T	-0.72237	0.04682	T	0.0294454943550943	0.01904	T	0.613939	0.23413	T	0.2518089	0.48192	0.14662592	0.34731	0.2518089	0.48192	0.14662592	0.34730	-3.152	0.11903	T	.	.	0.066	0.02145	B	.;.	.;.	1.900173	0.24136	16.28	0.99333555794883477	0.59895	0.55100	0.29780	D	AEFDBCI	0.197782	0.32468	N	-0.256708324795417	0.30837	1.723221	-0.195874142318218	0.31687	1.795675	0.999997525972552	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.527494	0.11647	0	0.655142	0.61905	0	.	.	4.85	3.71	0.41733	2.585000	0.45776	0.630000	0.20219	0.665000	0.62972	0.888000	0.31154	0.001000	0.17328	0.987000	0.62547	0.0:0.0997:0.0:0.9003	7.604	0.27263	825	0.40060	S-100;S-100	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	1825.43	46	chr1	153547821	.	T	C	1825.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.75;DP=456;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=-0.366;SOR=0.77	GT:AD:DP:GQ:PL	0/1:55,68:123:99:1837,0,1259	9	0	1	0
chr1	155030158	155030158	G	A	exonic	DCST2	.	nonsynonymous SNV	DCST2:NM_144622:exon7:c.C1103T:p.A368V	.	407	1099	16	0	0	16	0.00722674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00647266852047	0.0007	0.00179712	0.0016	0.0003	0.0018	0	0	0.0012	0.0033	0.0053	0.0014424	223	154602	rs138589439	0.0011	0.0011	0.0009	0.0012	0.0061	0.0010	0.0010	0.0048	0.0047	8.961e-05	0.0015	0.0001	2.519e-05	9.36e-05	0.0061	0.0008	0.0014	0.0052	0.0009	0.0009	0.0010	0.0009	0.0060	0.0008	0.0008	0.0043	0.0037	0.0001	0	0.0024	0	0.0002	9.414e-05	0.0068	0.0009	0.0014	0.0060	0.349	0.12345	T	0.42	0.14116	T	0.288	0.32258	B	0.241	0.38645	B	0.445358	0.12575	N	0.732373	1	0.08975	N	2.47	0.71715	M	1.44	0.32722	T	-1.23	0.31170	N	0.585	0.60579	-1.0305	0.20292	T	0.041	0.17488	T	10	0.006998539	0.00159	T	0.006473	0.17043	T	0.033	0.08068	.	.	0.314716216878	0.31082	0.1180707425201318	0.11734	0.0930818480898	0.10513	0.492610812187	0.37801	T	0.038065	0.24707	T	-0.487804	0.00668	T	-0.472245	0.25274	T	0.0204414593917916	0.00744	T	0.640436	0.25296	T	0.05572035	0.10867	0.09836587	0.23449	0.05572035	0.10866	0.09836587	0.23448	-3.62	0.18147	T	.	.	0.127	0.26855	B	.	.	1.979690	0.25148	16.66	0.98493703486738426	0.42132	0.48899	0.28311	N	AEFGBI	0.209923	0.33587	N	-0.249908420801866	0.31107	1.740991	-0.247199317575445	0.29868	1.676911	0.0119462624476166	0.12258	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.83	2.83	0.32150	2.437000	0.44487	2.463000	0.32863	0.676000	0.76740	0.842000	0.30316	0.832000	0.27222	0.399000	0.26759	0.0:0.0:0.6731:0.3269	11.329	0.48702	258	0.89879	Dendritic cell-specific transmembrane protein-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	0.004532	0.005051	0.008152	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1377.43	33	chr1	155030158	.	G	A	1377.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.112;DP=454;ExcessHet=0;FS=3.018;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.403;SOR=0.487	GT:AD:DP:GQ:PL	0/1:73,66:139:99:1389,0,1746	9	0	1	0
chr1	155479602	155479602	G	A	exonic	ASH1L	.	nonsynonymous SNV	ASH1L:NM_001366177:exon3:c.C3268T:p.P1090S,ASH1L:NM_018489:exon3:c.C3268T:p.P1090S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.0442584402733	.	.	8.245e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs747463993	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.519e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.519e-05	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.175	0.29945	T	0.028	0.21998	B	0.015	0.22329	B	0.000038	0.55875	D	0.073329	0.857392	0.35327	D	0.345	0.11182	N	-2.64	0.90147	D	-0.79	0.21860	N	0.222	0.24883	-0.5137	0.68150	T	0.350	0.71375	T	10	0.15291053	0.28873	T	0.044258	0.61398	D	0.376	0.69443	0.136	0.04008	0.559299675895	0.55590	0.7111540256327976	0.71057	0.745565018863	0.63500	0.651460587978	0.60193	T	0.013634	0.11757	T	-0.104418	0.35693	T	-0.218637	0.52868	T	0.651881575584412	0.38542	D	0.90371	0.66210	D	0.20994936	0.43277	0.21673544	0.46312	0.20994936	0.43277	0.21673544	0.46311	-2.894	0.09133	T	.	.	0.102	0.31304	B	.;.	.;.	2.875376	0.38031	20.6	0.99269277356024066	0.57491	0.94582	0.61636	D	AEFGBCI	0.300933	0.40959	N	-0.134427667057449	0.35898	2.067991	0.104543035394093	0.44779	2.753245	0.999998341532518	0.74766	0.566229	0.32551	0	0.577304	0.33150	0	0.679469	0.61720	0	0.635551	0.53088	0	.	.	5.08	5.08	0.68373	6.436000	0.73340	8.666000	0.77991	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.261	0.89972	52	0.97609	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1129.43	35	chr1	155479602	.	G	A	1129.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.598;DP=468;ExcessHet=0;FS=3.464;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=-0.278;SOR=0.983	GT:AD:DP:GQ:PL	0/1:70,47:117:99:1141,0,1819	9	0	1	0
chr1	156011827	156011827	G	A	exonic	SSR2	.	stopgain	SSR2:NM_003145:exon5:c.C424T:p.R142X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.942	0.94904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	9.926211	0.99439	44	0.99213921751579504	0.55685	0.88238	0.48077	D	AEFGBI	0.118731	0.23204	N	0.572417952431753	0.71458	5.653797	0.410843908091509	0.62240	4.436054	0.999968225531357	0.48965	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	3.24	0.36257	1.712000	0.37560	0.938000	0.22831	0.618000	0.50648	1.000000	0.71638	0.996000	0.32793	0.982000	0.59238	0.0:0.0:0.6097:0.3903	12.276	0.54054	196	0.92420	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	756.7	39	chr1	156011827	.	G	A	756.7	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.875;DP=704;ExcessHet=0.7463;FS=223.895;InbreedingCoeff=-0.1843;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=2.76;ReadPosRankSum=-1.04;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,16:90:99:0|1:156011822_G_A:239,0,2567:156011822	7	0	3	0
chr1	159432840	159432840	T	C	exonic	OR10J4	.	unknown	UNKNOWN	.	431	1076	15	0	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0084	0.0032	0.0155	0	0.0015	0.0122	0	0	0.0023997	371	154602	rs146980188	0.0048	0.0026	0.0049	0.0047	0.0063	0.0046	0.0045	0.0060	0.0059	0.0015	0.0043	0.0035	0	0.0011	0.0055	0.0063	0.0048	0.0011	0.0039	0.0039	0.0040	0.0038	0.0061	0.0036	0.0035	0.0053	0.0051	0.0009	0.0219	0.0061	0.0063	0	0.0008	0.0068	0.0057	0.0033	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5727.14	224	chr1	159432840	.	T	C	5727.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.4;DP=2449;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.326;SOR=0.712	GT:AD:DP:GQ:PL	0/1:147,115:262:99:2769,0,3529	8	0	2	0
chr1	160240106	160240111	TCCTCT	-	exonic	DCAF8	.	nonframeshift deletion	DCAF8:NM_015726:exon4:c.309_314del:p.E111_E112del	.	392	1122	8	0	0	8	0.0035524	.	.	.	1274264	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0145	.	0.0011	0.0003	0.0004	0	0	0.0017	0.0022	0.0009	0.0001921	5	26028	rs745776382	0.0008	0.0008	0.0008	0.0008	0.0021	0.0008	0.0007	0.0012	0.0009	0.0002	0.0007	0.0187	2.519e-05	5.69e-05	0.0021	0.0004	0.0020	0.0011	0.0011	0.0011	0.0011	0.0011	0.0020	0.0010	0.0009	0.0015	0.0013	0.0002	0	0.0020	0.0204	0.0002	0	0	0.0007	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1734.39	34	chr1	160240105	.	CTCCTCT	C	1734.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.578;DP=415;ExcessHet=0;FS=3.882;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.65;ReadPosRankSum=0.637;SOR=0.815	GT:AD:DP:GQ:PL	0/1:48,45:93:99:1746,0,1859	9	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2552.8	148	chr1	161048864	.	C	G	2552.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-5.803;DP=2098;ExcessHet=15.1594;FS=227.99;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.96;SOR=12.441	GT:AD:DP:GQ:PL	0/1:145,36:189:99:136,0,2978	0	0	9	1
chr1	161193717	161193717	C	T	exonic	ADAMTS4	.	nonsynonymous SNV	ADAMTS4:NM_001320336:exon6:c.G1658A:p.R553Q,ADAMTS4:NM_005099:exon6:c.G1658A:p.R553Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00672680540291	.	.	2.479e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs751930428	1.573e-05	1.573e-05	1.497e-05	1.65e-05	0.0001	1.048e-05	8.75e-06	6.246e-05	4.757e-05	0	0	3.828e-05	2.519e-05	0	0	8.993e-06	1.656e-05	0.0001	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.35	0.12305	T	0.616	0.07543	T	0.139	0.27501	B	0.073	0.28123	B	0.046893	0.23395	N	0.276962	0.95317	0.26414	N	-0.28	0.03718	N	3.9	0.03516	T	0.46	0.03140	N	0.391	0.43223	-0.9251	0.44844	T	0.002	0.00497	T	10	0.0806959	0.13127	T	0.006727	0.17784	T	0.027	0.05988	0.463	0.53242	0.266385636622	0.26244	0.42080655406495737	0.41996	0.771076726515	0.64765	0.347193539143	0.17508	T	0.051515	0.28901	T	-0.366079	0.03798	T	-0.526955	0.19591	T	0.166736994404118	0.18355	T	0.931607	0.74555	D	0.058624398	0.11818	0.0368595	0.03218	0.058624398	0.11817	0.0368595	0.03217	-5.329	0.40229	T	.	.	0.070	0.03443	B	.	.	3.750414	0.53753	23.4	0.98336549899088677	0.40398	0.17314	0.19783	N	AEFDBI	0.113204	0.22346	N	-0.992204786890353	0.08769	0.4124543	-0.851324716682976	0.13255	0.6866512	0.999695302615052	0.41870	0.722319	0.85440	0	0.547309	0.14657	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	4.96	1.98	0.25351	0.176000	0.16596	3.966000	0.40787	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.976000	0.56436	0.1402:0.7033:0.0:0.1565	7.004	0.24002	428	0.80967	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1643.43	56	chr1	161193717	.	C	T	1643.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.577;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.234;SOR=0.68	GT:AD:DP:GQ:PL	0/1:74,69:143:99:1655,0,1756	9	0	1	0
chr1	165208098	165208098	T	G	exonic	LMX1A	.	nonsynonymous SNV	LMX1A:NM_001174069:exon7:c.A782C:p.Q261P,LMX1A:NM_177398:exon7:c.A782C:p.Q261P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.446	0.14388118988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.176	0.29843	T	0.996	0.68779	D	0.826	0.59373	P	0.000006	0.62929	D	0.111195	0.999995	0.58761	D	2.395	0.69210	M	-2.29	0.87591	D	-1.99	0.45949	N	0.467	0.50508	0.058	0.83401	D	0.569	0.84377	D	9	0.45943677	0.59193	T	0.143881	0.82617	D	0.446	0.74797	0.284	0.24121	0.685241808492	0.68255	0.6011076648944356	0.60041	0.921379448415	0.71472	0.639178872108	0.58447	T	0.476705	0.80724	T	0.102478	0.64560	D	-0.0905738	0.64119	T	0.949863970279694	0.63208	D	0.89931	0.64723	D	0.6614426	0.75976	0.5814753	0.75739	0.6614426	0.75977	0.5814753	0.75740	-11.407	0.81843	D	0.3881923228911176	0.48172	0.255	0.48998	B	.;.;.	.;.;.	4.802121	0.78040	26.8	0.98919414767652414	0.48527	0.85133	0.44241	D	AEFDBCI	0.900562	0.84623	D	0.543945413544943	0.69715	5.396389	0.560596268650952	0.72137	5.762747	0.999904685483252	0.45458	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.13	5.13	0.69729	4.791000	0.62154	7.574000	0.60786	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.062	0.64328	943	0.12886	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	749.43	34	chr1	165208098	.	T	G	749.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.554;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=0.076;SOR=0.684	GT:AD:DP:GQ:PL	0/1:58,40:98:99:761,0,1351	9	0	1	0
chr1	167846128	167846128	A	G	exonic	ADCY10	.	nonsynonymous SNV	ADCY10:NM_001167749:exon17:c.T2114C:p.I705T,ADCY10:NM_001297772:exon20:c.T2297C:p.I766T,ADCY10:NM_018417:exon20:c.T2573C:p.I858T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00729502085192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.33418	T	0.068	0.44106	T	0.842	0.49745	P	0.257	0.45773	B	0.013807	0.28724	N	0.299531	0.746814	0.29679	N	2.39	0.68882	M	1.54	0.30133	T	-0.81	0.27876	N	0.833	0.82862	-1.0248	0.22148	T	0.073	0.29515	T	9	0.3635782	0.52924	T	0.007295	0.19334	T	0.186	0.46104	0.598	0.72862	0.365509141856	0.36162	0.5452894207360326	0.54454	0.237806744709	0.26327	0.557313978672	0.46888	T	0.057504	0.30584	T	-0.102996	0.35928	T	-0.385723	0.35053	T	0.789324462413788	0.45645	D	0.764224	0.39120	T	0.114207916	0.26965	0.10086195	0.24128	0.114207916	0.26965	0.10086195	0.24127	-4.214	0.26954	T	.	.	0.542	0.66450	A	.;.;.	.;.;.	2.198950	0.28042	17.67	0.99182046900583209	0.54701	0.76887	0.37747	D	AEFDBI	0.322791	0.42518	N	0.295153804627967	0.55902	3.754388	0.355739544196817	0.58855	4.058714	0.960280346607231	0.28479	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.86	5.86	0.93936	2.218000	0.42530	4.652000	0.44201	0.756000	0.94297	0.956000	0.33378	0.998000	0.33993	0.955000	0.50612	1.0:0.0:0.0:0.0	12.659	0.56164	700	0.57880	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	46.42	46	chr1	167846128	.	A	G	46.42	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.798;DP=609;ExcessHet=0.2348;FS=223.757;InbreedingCoeff=-0.0877;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.16;ReadPosRankSum=0.544;SOR=7.978	GT:AD:DP:GQ:PL	0/1:110,23:133:57:57,0,2310	8	0	2	0
chr1	173207098	173207098	C	T	exonic	TNFSF4	.	nonsynonymous SNV	TNFSF4:NM_003326:exon1:c.G79A:p.V27M	.	426	1070	24	2	0	28	0.0129151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	0.0002	0.00199681	0.0024	9.612e-05	0.0006	0	0	0.0004	0.0033	0.0153	0.0020181	312	154602	rs199835957	0.0012	0.0012	0.0007	0.0016	0.0149	0.0011	0.0011	0.0142	0.0140	0	0.0009	0.0012	5.039e-05	0	0.0030	0.0002	0.0015	0.0149	0.0007	0.0007	0.0004	0.0010	0.0139	0.0006	0.0006	0.0112	0.0103	4.813e-05	0	0.0011	0.0006	0.0002	0	0	0.0002	0.0009	0.0139	0.004	0.65419	D	0.008	0.67890	D	0.999	0.77913	D	0.927	0.66185	D	0.056225	0.22577	N	0.379769	0.762336	0.34053	D	1.955	0.52871	M	.	.	.	-2.73	0.58085	D	0.508	0.53972	-0.5031	0.68538	T	0.261	0.63230	T	9	0.009205133	0.00208	T	.	.	.	0.192	0.47115	.	.	0.347659731818	0.34379	0.6909411628972086	0.69034	0.837915334682	0.67891	0.408709019423	0.26278	T	0.819008	0.95554	D	-0.315653	0.07260	T	-0.213866	0.53325	T	0.0776720288139792	0.09686	T	0.761924	0.38711	T	0.15038362	0.34238	0.21194471	0.45643	0.15038362	0.34238	0.21194471	0.45642	-5.079	0.37685	T	.	.	0.333	0.55452	B	.	.	3.436727	0.47789	22.5	0.9987778635413902	0.95410	0.76223	0.37367	D	AEFDGBCIJ	0.238707	0.36079	N	0.545485646877872	0.69808	5.409865	0.48935201874849	0.67284	5.063272	0.999999999772002	0.74766	0.516011	0.20929	0	0.52208	0.09955	0	0.577349	0.28860	0	0.56214	0.19341	0	.	.	5.67	4.75	0.59954	1.821000	0.38680	2.123000	0.30732	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.341000	0.25455	0.0:0.9119:0.0:0.0881	10.932	0.46434	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001359	0.000000	0.000000	0.008621	0.006098	0.007576	0.1	4394.14	33	chr1	173207098	.	C	T	4394.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.827;DP=675;ExcessHet=0.2348;FS=0.775;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.762;SOR=0.646	GT:AD:DP:GQ:PL	0/1:94,84:178:99:1941,0,2266	8	0	2	0
chr1	174449165	174449165	C	T	exonic	GPR52	.	nonsynonymous SNV	GPR52:NM_005684:exon1:c.C1054T:p.P352S	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.0111759228475	0.0003	0.000599042	0.0008	0	8.678e-05	0	0.0003	0.0005	0.0023	0.0044	0.0006792	105	154602	rs200680459	0.0005	0.0005	0.0004	0.0006	0.0037	0.0005	0.0004	0.0033	0.0032	6.053e-05	9.215e-05	0	0	0.0005	0.0007	0.0003	0.0004	0.0037	0.0004	0.0004	0.0003	0.0004	0.0050	0.0003	0.0003	0.0034	0.0029	0	0	0.0001	0	0	0.0004	0	0.0004	0	0.0050	0.951	0.02141	T	0.253	0.23501	T	0.002	0.09854	B	0.003	0.08700	B	0.000060	0.53742	D	0.000000	1	0.81001	D	-0.205	0.04094	N	0.21	0.59983	T	0.7	0.02163	N	0.529	0.55799	-0.9598	0.39218	T	0.118	0.41473	T	10	0.006215185	0.00140	T	0.011176	0.28538	T	0.225	0.52323	.	.	0.616342586736	0.61324	0.3486922598771574	0.34783	0.37739256135	0.39174	0.543717801571	0.44971	T	0.009747	0.08853	T	-0.326206	0.06402	T	-0.242505	0.50553	T	0.0818823738501277	0.10227	T	0.79972	0.44511	T	0.08512125	0.19732	0.14697002	0.34798	0.08512125	0.19732	0.14697002	0.34797	-3.51	0.16572	T	.	.	0.108	0.20547	B	.	.	2.781790	0.36545	20.3	0.96541839564533705	0.30190	0.98095	0.79555	D	AEFDGBIJ	0.910210	0.86784	D	-0.0702686479789215	0.38701	2.270757	0.199602129677502	0.49826	3.181233	0.999999999997965	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.0	0.00009	3	.	.	6.17	6.17	0.99707	7.542000	0.81035	7.720000	0.67265	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	20.879	0.99870	281	0.88893	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.1	1800.14	40	chr1	174449165	.	C	T	1800.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.097;DP=511;ExcessHet=0.2348;FS=0.538;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=0.53;SOR=0.638	GT:AD:DP:GQ:PL	0/1:55,41:96:99:883,0,1320	8	0	2	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	13668.7	91	chr1	175160810	.	C	*	13668.7	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.19;DP=749;ExcessHet=2.8389;FS=2.847;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=18.96;ReadPosRankSum=3.4;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,30:55:99:1|0:175160788_C_CCTT:1053,0,929:175160788	6	0	4	0
chr1	182057705	182057705	A	C	exonic	ZNF648	.	nonsynonymous SNV	ZNF648:NM_001009992:exon2:c.T306G:p.S102R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00245176380396	7.7e-05	0.000798722	9.06e-05	0.0007	0	0	0	0	0	0.0002	0.0001035	16	154602	rs140095619	4.515e-05	4.515e-05	2.178e-05	6.875e-05	0.0006	3.641e-05	3.321e-05	0.0005	0.0004	0.0003	0	0	0	0	0	8.993e-07	6.623e-05	0.0006	9.196e-05	9.187e-05	3.856e-05	0.0001	0.0006	5.526e-05	4.363e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	0	0	0.0006	0.172	0.22660	T	0.088	0.40586	T	0.379	0.34321	B	0.11	0.31460	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	3.06	0.08634	T	-0.64	0.18670	N	0.089	0.06720	-0.9747	0.36191	T	0.010	0.03537	T	9	0.010532588	0.00234	T	0.002452	0.04840	T	0.054	0.15330	0.314	0.28935	0.0138822411134	0.00435	0.03901072413800416	0.03847	0.429269928717	0.43224	0.323713898659	0.13983	T	0.002405	0.01797	T	-0.4848	0.00694	T	-0.584727	0.14126	T	0.00989760253530709	0.00131	T	0.286771	0.05140	T	0.05471278	0.10536	0.07304595	0.15829	0.05471278	0.10536	0.07304595	0.15829	-4.378	0.29257	T	.	.	0.324	0.54825	B	.	.	-0.221965	0.02981	0.446	0.87498131771124077	0.17270	0.01589	0.05168	N	AEFDBI	0.047041	0.07877	N	-1.2691614206154	0.04052	0.1821667	-1.39441679327485	0.03311	0.1541964	0.802655573315418	0.24213	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.564101	0.26826	0	.	.	2.61	-1.58	0.08029	-1.300000	0.02859	-1.205000	0.06030	-0.740000	0.03671	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5352:0.0:0.4648:0.0	6.361	0.20630	910	0.22284	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.15	5923.43	129	chr1	182057705	.	A	C	5923.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.09;DP=874;ExcessHet=0;FS=2.303;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=21.86;ReadPosRankSum=0.651;SOR=0.533	GT:AD:DP:GQ:PL	1/1:0,140:140:99:4581,420,0	8	1	1	0
chr1	183261213	183261213	G	A	exonic	NMNAT2	.	nonsynonymous SNV	NMNAT2:NM_015039:exon9:c.C742T:p.R248C,NMNAT2:NM_170706:exon9:c.C727T:p.R243C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.707	0.15088338706	.	0.000199681	2.471e-05	0	0	0.0001	0	2.997e-05	0	0	2.59e-05	4	154602	rs200858529	5.473e-06	5.472e-06	6.807e-06	4.125e-06	2.236e-05	2.35e-06	1.7e-06	1.32e-06	9.6e-07	0	2.236e-05	0	0	0	0	4.497e-06	1.656e-05	1.159e-05	3.284e-05	3.281e-05	5.141e-05	1.343e-05	0.0002	1.261e-05	7.98e-06	7.98e-06	2.99e-06	4.817e-05	0	6.539e-05	0	0.0002	0	0	1.47e-05	0	0	0.075	0.34444	T	0.171	0.30339	T	1.0	0.90584	D	0.901	0.64797	P	0.000086	0.51296	D	0.177231	1	0.81001	D	1.32	0.33002	L	-4.1	0.96659	D	-0.17	0.09627	N	0.683	0.68950	0.896	0.95618	D	0.880	0.96015	D	10	0.7279803	0.74103	D	0.150883	0.83251	D	0.707	0.89514	.	.	0.862042798329	0.86071	0.8050823545042699	0.80462	2.14347587928	0.95256	0.832240641117	0.86906	D	0.361692	0.72773	T	0.360735	0.87307	D	0.449523	0.93567	D	0.732622623443604	0.42346	D	0.973803	0.90577	D	0.10245937	0.24212	0.10648871	0.25619	0.10245937	0.24211	0.10648871	0.25619	-4.685	0.45204	T	0.11201058359650204	0.09644	0.417	0.64848	A	.;.	.;.	5.483810	0.91410	32	0.99637606093125253	0.76449	0.97511	0.75225	D	AEFGBI	0.936663	0.93331	D	0.633339582531517	0.75294	6.28068	0.672573379981626	0.80304	7.26873	0.999999999986703	0.74766	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.4	5.4	0.77957	7.611000	0.82163	11.840000	0.97786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.173	0.93571	618	0.66225	.;Cytidyltransferase-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	.	.	.	.	.	.	.	.	0.15	6171.43	34	chr1	183261213	.	G	A	6171.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.845;DP=588;ExcessHet=0;FS=1.614;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=59.94;MQRankSum=1.04;QD=20.57;ReadPosRankSum=2.05;SOR=0.812	GT:AD:DP:GQ:PL	1/1:0,133:133:99:4185,399,0	8	1	1	0
chr1	185181964	185181964	C	T	exonic	SWT1	.	nonsynonymous SNV	SWT1:NM_001105518:exon7:c.C1045T:p.L349F,SWT1:NM_017673:exon7:c.C1045T:p.L349F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0128921527203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000002	0.62929	D	0.000000	0.899744	0.36143	D	2.28	0.64929	M	1.28	0.35960	T	-2.19	0.49352	N	0.497	0.53620	-0.8454	0.52284	T	0.141	0.46183	T	10	0.36653662	0.53146	T	0.012892	0.31852	T	0.139	0.37390	0.3	0.26683	0.579890812634	0.57659	0.4388643738463488	0.43803	0.64846266349	0.58195	0.668325304985	0.62599	T	0.139142	0.47301	T	-0.0472299	0.44868	T	-0.305619	0.44127	T	0.954114615917206	0.64187	D	0.914109	0.69400	D	0.28956687	0.51952	0.24229378	0.49646	0.28956687	0.51952	0.24229378	0.49645	-10.017	0.74014	D	.	.	0.703	0.73078	P	.;.	.;.	4.859298	0.79503	27.1	0.99906513698964627	0.97726	0.68216	0.33718	D	AEFI	0.117897	0.23076	N	0.552752994831467	0.70252	5.474019	0.585626947852786	0.73907	6.048133	0.0846083622799005	0.15960	0.651	0.46895	0	0.588015	0.36545	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.71	5.71	0.89031	2.082000	0.41230	7.699000	0.66186	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9131:0.0:0.0869	11.765	0.51193	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	.	.	.	.	.	.	.	.	0.0625	54.73	43	chr1	185181964	.	C	T	54.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-2.788;DP=772;ExcessHet=0;FS=101.62;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=1.14;SOR=6.932	GT:AD:DP:GQ:PL	0/1:70,31:101:65:65,0,883	7	0	1	2
chr1	197105038	197105038	G	A	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_018136:exon18:c.C4213T:p.R1405C	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	5	1499	18	0	0	18	0.00596817	.	.	.	167665	not_specified|ASPM-related_disorder|Microcephaly_5,_primary,_autosomal_recessive|not_provided	MedGen:CN169374|.|MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.795	.	0.0039	0.00419329	0.0055	0.0008	0.0012	0	0.0014	0.0057	0.0044	0.0152	0.0053039	820	154602	rs139367209	0.0057	0.0057	0.0053	0.0061	0.0132	0.0056	0.0056	0.0125	0.0123	0.0006	0.0014	0.0089	0	0.0014	0.0051	0.0058	0.0048	0.0132	0.0043	0.0043	0.0046	0.0039	0.0162	0.0040	0.0039	0.0133	0.0122	0.0009	0	0.0024	0.0101	0.0004	0.0015	0	0.0065	0.0024	0.0162	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	3.485	0.92608	M	-1.07	0.76948	T	-5.9	0.88839	D	0.307	0.34659	0.288	0.87364	D	0.559	0.83942	D	10	0.013116419	0.00279	T	.	.	.	0.795	0.93266	.	.	0.976337284706	0.97608	0.3470169309084892	0.34615	.	.	0.369533777237	0.20765	T	0.446768	0.78928	T	0.0427966	0.57410	T	0.299729	0.88184	D	0.0931860433104182	0.11590	T	0.827217	0.49094	T	0.7055581	0.78362	0.48240623	0.70030	0.7055581	0.78363	0.48240623	0.70030	-10.08	0.74389	D	0.4454985388518281	0.53023	0.163	0.36033	B	.	.	4.734065	0.76271	26.5	0.99921080182158495	0.98787	0.98219	0.80648	D	AEFBI	0.749832	0.69114	D	0.744745732320336	0.82561	7.793392	0.675622111294304	0.80534	7.319754	0.855008275730344	0.25116	0.732398	0.92422	0	0.708844	0.79440	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.24	4.33	0.51083	6.479000	0.73509	5.893000	0.50786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0776:0.0:0.9224:0.0	13.085	0.58547	176	0.93188	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006042	0.000000	0.001359	0.011696	0.000000	0.008621	0.003049	0.015152	0.15	8518.43	37	chr1	197105038	.	G	A	8518.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.15;DP=716;ExcessHet=0;FS=0.472;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=22.48;ReadPosRankSum=0.894;SOR=0.649	GT:AD:DP:GQ:PL	1/1:0,205:205:99:6095,615,0	8	1	1	0
chr1	201039947	201039947	G	A	exonic	CACNA1S	.	stopgain	CACNA1S:NM_000069:exon44:c.C5506T:p.R1836X	Hypokalemic periodic paralysis, type 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1923578	Hypokalemic_periodic_paralysis,_type_1|Thyrotoxic_periodic_paralysis,_susceptibility_to,_1|Congenital_myopathy_18|Malignant_hyperthermia,_susceptibility_to,_5	MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MONDO:MONDO:0008570,MedGen:C2749982,OMIM:188580,Orphanet:79102|MONDO:MONDO:0859514,MedGen:C5830283,OMIM:620246|MONDO:MONDO:0011163,MedGen:C1866077,OMIM:601887,Orphanet:423	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs926000507	6.157e-06	6.84e-06	2.723e-06	9.626e-06	5.797e-05	2.9e-06	2.1e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	3.597e-06	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400231	0.04529	U	1.536250	0.999993	0.58761	D	.	.	.	.	.	.	.	.	.	0.505	0.53884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240329	0.77694	D	0.288967	0.87607	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	8.652115	0.97839	38	0.99497677802862083	0.67859	0.10349	0.15880	N	AEFBI	0.067550	0.13285	N	0.337032325300686	0.58059	3.976035	0.080738040017168	0.43581	2.656864	0.0951414649336419	0.16221	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.36	4.36	0.51643	0.514000	0.22492	4.992000	0.46535	0.581000	0.30040	0.001000	0.13787	0.987000	0.30940	0.968000	0.53726	0.0:0.1719:0.6511:0.177	8.026	0.29601	878	0.29785	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	5524.14	48	chr1	201039947	.	G	A	5524.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.31;DP=803;ExcessHet=0.2348;FS=0.521;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.674;SOR=0.793	GT:AD:DP:GQ:PL	0/1:108,104:212:99:2360,0,2447	8	0	2	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	.	.	.	.	.	.	.	.	0.35	1775.95	150	chr1	204444146	.	C	T	1775.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.45;DP=1261;ExcessHet=7.0302;FS=231.663;InbreedingCoeff=-0.5226;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.73;ReadPosRankSum=1.11;SOR=9.6	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,20:144:7:0|1:204444146_C_T:7,0,4044:204444146	3	0	7	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	.	.	.	.	.	.	.	.	0.2	438.75	150	chr1	204444147	.	A	G	438.75	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.263;DP=1122;ExcessHet=1.5895;FS=176.128;InbreedingCoeff=-0.2371;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.71;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,20:144:7:0|1:204444146_C_T:7,0,4044:204444146	6	0	4	0
chr1	208216911	208216911	T	C	exonic	PLXNA2	.	nonsynonymous SNV	PLXNA2:NM_025179:exon2:c.A1012G:p.I338V	.	431	1090	1	0	0	1	0.000458505	.	.	.	3510870	PLXNA2-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.00331463948968	.	.	4.948e-05	0.0002	0	0	0	6.003e-05	0	0	4.53e-05	7	154602	rs150144401	5.951e-05	5.951e-05	6.398e-05	5.5e-05	0.0003	4.882e-05	4.561e-05	6.092e-05	5.11e-05	5.974e-05	4.472e-05	0	0	0	0.0003	6.834e-05	4.967e-05	2.319e-05	5.258e-05	5.254e-05	5.14e-05	5.381e-05	6.543e-05	2.558e-05	1.83e-05	1.972e-05	1.124e-05	4.828e-05	0	6.543e-05	0	0	0	0	5.88e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.004	0.10090	B	0.000435	0.44522	N	0.172506	0.993058	0.41822	D	-0.725	0.01781	N	4.28	0.02487	T	0.34	0.03824	N	0.083	0.05929	-0.9516	0.40695	T	0.003	0.01059	T	10	0.10079932	0.18379	T	0.003315	0.07359	T	0.083	0.24192	.	.	0.171220215726	0.16700	0.44210080105281213	0.44127	0.469490655894	0.46258	0.506237983704	0.39696	T	0.052257	0.29110	T	-0.392855	0.02578	T	-0.620557	0.11142	T	0.0395369671633047	0.03606	T	0.814119	0.46793	T	0.04734651	0.08078	0.055646274	0.09800	0.04734651	0.08078	0.055646274	0.09800	0.777	0.00163	T	0.03441546307926692	0.00167	0.064	0.01762	B	.	.	1.160197	0.15492	11.89	0.79337267346435725	0.12696	0.67693	0.33525	D	AEFDBHCI	0.159797	0.28565	N	-0.658941422504858	0.17200	0.8830583	-0.37534523371916	0.25733	1.417039	0.999999981298909	0.74766	0.722319	0.85440	0	0.615948	0.52940	0	0.725225	0.93170	0	0.735409	0.98432	0	.	.	5.69	4.57	0.55860	1.026000	0.29708	1.503000	0.26970	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.1474:0.0:0.8526	8.492	0.32266	790	0.46189	Sema domain|Sema domain|Sema 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	.	.	.	.	.	.	.	.	0.1	2440.14	48	chr1	208216911	.	T	C	2440.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.08;DP=679;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=1.27;SOR=0.724	GT:AD:DP:GQ:PL	0/1:67,49:116:99:1198,0,1613	8	0	2	0
chr1	212815137	212815137	G	A	exonic	TATDN3	.	nonsynonymous SNV	TATDN3:NM_001146170:exon9:c.G743A:p.R248Q,TATDN3:NM_001042552:exon10:c.G806A:p.R269Q,TATDN3:NM_001042553:exon10:c.G803A:p.R268Q,TATDN3:NM_001146171:exon10:c.G827A:p.R276Q	.	432	1080	7	3	0	13	0.00598251	.	.	.	2335827	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.109	0.000985607636526	0.0007	0.000599042	0.0009	0.0003	0.0006	0	0.0002	0.0011	0.0022	0.0009	0.0008215	127	154602	rs147372063	0.0009	0.0009	0.0009	0.0009	0.0108	0.0008	0.0008	0.0086	0.0079	0.0003	0.0013	0.0030	0	0.0004	0.0108	0.0009	0.0011	0.0005	0.0009	0.0009	0.0008	0.0010	0.0022	0.0008	0.0007	0.0016	0.0014	0.0002	0	0.0022	0.0032	0	0	0.0102	0.0011	0.0014	0.0006	0.614	0.06564	T	0.517	0.10572	T	0.001	0.09854	B	0.0	0.01387	B	0.181233	0.17097	N	0.608178	1	0.08975	N	-0.515	0.02571	N	.	.	.	-0.29	0.11728	N	0.069	0.07673	-1.0536	0.13413	T	0.039	0.16720	T	9	0.0033646524	0.00059	T	9.86E-4	0.01026	T	0.109	0.30843	.	.	0.0297737177859	0.01360	0.36654171013608455	0.36568	0.179838566687	0.20231	0.18971529603	0.00220	T	0.005715	0.05159	T	-0.671875	0.00054	T	-0.773256	0.02663	T	0.00121056492837249	0.00012	T	0.708829	0.31953	T	0.05865441	0.11828	0.072507404	0.15650	0.05865441	0.11827	0.072507404	0.15649	-3.309	0.26272	T	.	.	0.075	0.06803	B	.;.;.;.	.;.;.;.	-0.896546	0.00931	0.035	0.86435292909977635	0.16534	0.00563	0.02562	N	AEFDGBHCI	0.051600	0.09133	N	-1.62350495688705	0.01152	0.05004684	-1.65898525637239	0.01330	0.06002147	0.999999732398993	0.74766	0.758104	0.99027	0	0.724815	0.89359	0	0.724815	0.87919	0	0.665031	0.64506	0	.	.	5.3	-9.4	0.00521	-0.469000	0.06725	-4.712000	0.02021	-1.376000	0.01165	0.000000	0.06391	0.000000	0.08366	0.402000	0.26827	0.7584:0.0:0.2416:0.0	18.629	0.91307	895	0.25842	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007553	0.000000	0.006793	0.005848	0.000000	0.000000	0.006098	0.015152	0.05	632.43	33	chr1	212815137	.	G	A	632.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.827;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.81;ReadPosRankSum=-1.285;SOR=0.777	GT:AD:DP:GQ:PL	0/1:49,32:81:99:644,0,1150	9	0	1	0
chr1	216084721	216084721	T	C	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon25:c.A5144G:p.E1715G	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	2418919	Usher_syndrome	MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0.118	0.0839974928411	.	.	.	.	.	.	.	.	.	.	.	.	.	rs528113865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.35726	T	0.051	0.47828	T	0.682	0.41464	P	0.255	0.39216	B	0.009349	0.30401	N	0.146543	0.55936	0.31270	N	2.095	0.58118	M	2.53	0.14038	T	-2.5	0.54382	D	0.307	0.34659	-1.0687	0.09701	T	0.034	0.14813	T	10	0.35739312	0.52456	T	0.083997	0.74234	D	0.118	0.32913	0.365	0.37199	0.859549306215	0.85819	0.4590324531778631	0.45821	0.0332591431423	0.03475	0.31427103281	0.12553	T	0.132794	0.46310	T	-0.218161	0.18244	T	-0.454296	0.27222	T	0.873177886009216	0.52304	D	0.618838	0.23746	T	0.12356744	0.29012	0.19337499	0.42904	0.12356744	0.29011	0.19337499	0.42903	-4.134	0.25789	T	0.5192727367931997	0.59181	0.106	0.19559	B	.	.	2.802091	0.36860	20.4	0.99780083179469448	0.86693	0.96253	0.68242	D	AEFI	0.733965	0.68024	D	0.239710966716474	0.53133	3.483528	0.305598990856147	0.55867	3.74965	0.974761762540907	0.29571	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.93	4.93	0.64394	6.635000	0.74153	4.100000	0.41859	0.665000	0.62972	0.894000	0.31287	0.857000	0.27449	0.986000	0.61781	0.0:0.0:0.0:1.0	14.661	0.68474	748	0.52143	Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3337.43	35	chr1	216084721	.	T	C	3337.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.853;DP=582;ExcessHet=0;FS=2.837;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.376;SOR=0.525	GT:AD:DP:GQ:PL	0/1:105,146:251:99:3349,0,2368	9	0	1	0
chr1	219609793	219609793	C	T	exonic	ZC3H11B	.	nonsynonymous SNV	ZC3H11B:NM_001355457:exon2:c.G2270A:p.R757Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179598724	2.147e-05	2.943e-05	2.209e-05	2.085e-05	0.0030	1.539e-05	1.341e-05	0.0019	0.0016	0	0	0	5.052e-05	0	0.0030	8.212e-06	1.673e-05	2.33e-05	1.316e-05	1.971e-05	2.572e-05	0	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.472e-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	.	.	.	.	.	.	.	.	0.05	1384.43	38	chr1	219609793	.	C	T	1384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.118;DP=620;ExcessHet=0;FS=4.048;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.44;MQRankSum=0.739;QD=4.86;ReadPosRankSum=0.596;SOR=0.472	GT:AD:DP:GQ:PL	0/1:211,74:285:99:1396,0,5466	9	0	1	0
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	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	.	.	.	.	.	.	.	.	0.35	191.32	95	chr1	220154029	.	G	C	191.32	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.127;DP=777;ExcessHet=7.0302;FS=236.426;InbreedingCoeff=-0.4786;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.41;ReadPosRankSum=-0.194;SOR=10.961	GT:AD:DP:GQ:PL	0/1:37,14:51:5:5,0,479	3	0	7	0
chr1	225514708	225514708	G	A	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995T:p.A332V,ENAH:NM_001008493:exon7:c.C1106T:p.A369V,ENAH:NM_018212:exon7:c.C1106T:p.A369V,ENAH:NM_001377481:exon8:c.C1163T:p.A388V,ENAH:NM_001377482:exon8:c.C1163T:p.A388V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.112320486811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.797e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.048	0.50514	D	0.997	0.70673	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999596	0.58761	D	2.275	0.64647	M	-0.04	0.63240	T	-1.67	0.39887	N	0.63	0.64393	0.348	0.88309	D	0.643	0.87528	D	10	0.4695522	0.59778	T	0.11232	0.79042	D	0.233	0.53499	0.104	0.01698	0.612357999405	0.60923	0.16674359625552354	0.16594	0.92458102789	0.71591	0.674778223038	0.63520	T	0.277514	0.65013	T	0.133822	0.67732	D	-0.0455502	0.67325	D	0.946237564086914	0.62427	D	0.848015	0.53747	T	0.17252353	0.37948	0.16418302	0.38047	0.17252353	0.37948	0.16418302	0.38046	-10.699	0.78566	D	.	.	0.227	0.48510	B	.;.;.	.;.;.	4.298915	0.65622	24.9	0.99888774019022097	0.96359	0.99573	0.97585	D	AEFDBI	0.882683	0.81099	D	0.729987147899231	0.81600	7.559994	0.719044094803892	0.83827	8.124527	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	354.95	117	chr1	225514708	.	G	A	354.95	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.263;DP=743;ExcessHet=1.5895;FS=575.34;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=2.17;SOR=10.035	GT:AD:DP:GQ:PL	0/1:58,25:83:57:57,0,764	2	0	4	4
chr1	225857014	225857014	G	A	exonic	TMEM63A	.	nonsynonymous SNV	TMEM63A:NM_014698:exon16:c.C1381T:p.P461S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	0.0254578168405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.01	0.65728	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.435	0.70606	M	1.55	0.29866	T	-7.85	0.96058	D	0.794	0.79022	-0.8257	0.53575	T	0.201	0.55766	T	10	0.87316597	0.86593	D	0.025458	0.48428	D	0.422	0.73078	0.641	0.77795	0.456738291233	0.45297	0.7390001865424328	0.73845	0.757713701711	0.64085	0.599467039108	0.52829	T	0.083983	0.37177	T	0.125477	0.66918	D	-0.057538	0.66504	T	0.99803751707077	0.93059	D	0.955704	0.83186	D	0.82486224	0.85549	0.7690023	0.86359	0.82486224	0.85551	0.7690023	0.86360	-12.963	0.89210	D	0.2870691229816528	0.38318	0.320	0.54477	B	.	.	4.826012	0.78650	26.9	0.99926142300830068	0.99103	0.98942	0.88948	D	AEFBI	0.906903	0.86025	D	0.740083973651267	0.82258	7.718377	0.712043404572236	0.83294	7.983965	0.999999999959761	0.74766	0.706298	0.61202	0	0.644132	0.57912	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	9.770000	0.98154	8.397000	0.77098	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.620000	0.31896	0.0:0.0:1.0:0.0	18.550	0.91014	739	0.53257	Calcium-dependent channel, 7TM region, putative phosphate	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	58.43	33	chr1	225857014	.	G	A	58.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.073;DP=407;ExcessHet=0;FS=31.761;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.059;SOR=5.282	GT:AD:DP:GQ:PL	0/1:42,13:55:70:70,0,923	9	0	1	0
chr1	228274199	228274199	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon19:c.G5438A:p.R1813Q,OBSCN:NM_052843:exon19:c.G5438A:p.R1813Q,OBSCN:NM_001271223:exon23:c.G6563A:p.R2188Q	.	0	1502	19	1	0	21	0.00694215	.	.	.	2388335	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.078	0.064508663187	7.8e-05	0.000399361	0.0005	0	0.0005	0	0	0.0003	0	0.0022	0.0004722	73	154602	rs201775103	0.0003	0.0003	0.0002	0.0003	0.0028	0.0002	0.0002	0.0021	0.0020	2.99e-05	0.0004	0.0007	0	0	0.0028	0.0001	0.0005	0.0023	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	2.405e-05	0	0.0001	0.0009	0	0	0.0034	0.0002	0.0009	0.0014	0.233	0.19639	T	0.25	0.28669	T	0.985	0.61118	D	0.405	0.44649	B	0.953482	0.08271	N	0.975502	1	0.08975	N	0.95	0.23787	L	-0.09	0.64086	T	-0.98	0.25986	N	0.157	0.16308	-0.9704	0.37115	T	0.125	0.42883	T	10	0.006353706	0.00143	T	0.064509	0.69300	D	0.078	0.22779	.	.	0.544128928594	0.54067	0.5569867715167525	0.55625	0.149307884708	0.16836	0.308165788651	0.11630	T	0.036894	0.24276	T	-0.533139	0.00368	T	-0.544141	0.17893	T	0.00772480962572594	0.00090	T	0.741226	0.36032	T	0.03028966	0.02666	0.039209414	0.03962	0.028013578	0.02075	0.045015827	0.05964	-6.069	0.46853	T	.	.	0.075	0.05447	B	.;.;.;.;.	.;.;.;.;.	1.465564	0.18885	13.98	0.97054960078936692	0.32167	0.02036	0.06099	N	AEFDBI	0.049309	0.08506	N	-0.811334921902654	0.13020	0.6385616	-0.894668923838448	0.12220	0.6273003	0.990011348564989	0.32009	0.653496	0.48692	0	0.59043	0.45803	0	0.596874	0.31795	0	0.491896	0.07777	0	.	.	5.25	-1.12	0.09306	0.161000	0.16298	-0.541000	0.08582	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.7089:0.0:0.2911:0.0	10.591	0.44501	442	0.79946	.;Immunoglobulin I-set;.;.;Immunoglobulin I-set	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1202.43	36	chr1	228274199	.	G	A	1202.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.754;DP=443;ExcessHet=0;FS=0.759;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.314;SOR=0.606	GT:AD:DP:GQ:PL	0/1:42,54:96:99:1214,0,867	9	0	1	0
chr1	236555597	236555597	A	G	exonic	HEATR1	.	nonsynonymous SNV	HEATR1:NM_018072:exon40:c.T5708C:p.M1903T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.703	0.228825981121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.48	0.72069	M	-0.16	0.65378	T	-3.34	0.66325	D	0.927	0.93135	-0.1379	0.79216	T	0.409	0.75789	T	10	0.8919902	0.88543	D	0.228826	0.88156	D	0.703	0.89330	0.678	0.81594	0.784655137228	0.78266	0.7357449618739271	0.73519	0.386592268345	0.39947	0.734109699726	0.72107	T	0.033978	0.23137	T	0.351101	0.86582	D	0.266556	0.86406	D	0.986439550973144	0.77153	D	0.89651	0.65783	D	0.81606895	0.84956	0.81767267	0.89389	0.81606895	0.84957	0.81767267	0.89390	-5.2	0.38942	T	.	.	0.430	0.62562	A	.;.	.;.	4.621802	0.73395	26.0	0.99088810581742648	0.52149	0.99524	0.97054	D	AEFBI	0.882838	0.81128	D	0.681621218122094	0.78430	6.869732	0.639569498264871	0.77837	6.756759	0.999997602753695	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	4.94	0.64645	9.054000	0.93315	11.231000	0.90101	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	14.755	0.69180	934	0.15400	BP28, C-terminal domain|BP28, C-terminal domain;BP28, C-terminal domain|BP28, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	877.43	60	chr1	236555597	.	A	G	877.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.87;DP=573;ExcessHet=0;FS=2.671;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.83;ReadPosRankSum=0.403;SOR=1.038	GT:AD:DP:GQ:PL	0/1:74,38:112:99:889,0,1741	9	0	1	0
chr1	248473906	248473906	-	CTCCTGCCCTGCTGAAGCT	exonic	OR2T3	.	frameshift insertion	OR2T3:NM_001005495:exon1:c.556_557insCTCCTGCCCTGCTGAAGCT:p.S195Pfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.683e-06	0	0	0	0	1.548e-05	0	0	3.84e-05	1	26028	rs760163860	1.519e-05	1.575e-05	1.649e-05	1.388e-05	0.0019	9.95e-06	8.49e-06	0.0011	0.0008	0	2.248e-05	0	0	0	0.0019	5.45e-06	6.68e-05	0	3.627e-05	3.339e-05	7.024e-05	0	0.0002	1.361e-05	8.7e-06	6.014e-05	3.236e-05	0	0	0.0002	0	0	0	0	3.143e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2221.39	139	chr1	248473906	.	A	ACTCCTGCCCTGCTGAAGCT	2221.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.486;DP=669;ExcessHet=0;FS=0.744;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=54.66;MQRankSum=-2.338;QD=20.38;ReadPosRankSum=-0.999;SOR=0.844	GT:AD:DP:GQ:PL	0/1:52,57:109:99:2233,0,1992	9	0	1	0
chr2	3499049	3499049	C	T	exonic	ADI1	.	nonsynonymous SNV	ADI1:NM_001306077:exon4:c.G436A:p.E146K,ADI1:NM_018269:exon4:c.G454A:p.E152K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0182922503201	0.0006	0.000199681	0.0004	0.0003	8.646e-05	0	0.0006	0.0006	0	0	0.0004916	76	154602	rs143494796	0.0010	0.0010	0.0011	0.0009	0.0012	0.0009	0.0009	0.0012	0.0012	0.0003	0.0003	0	0	0.0003	0	0.0012	0.0008	0	0.0008	0.0008	0.0008	0.0007	0.0012	0.0006	0.0006	0.0010	0.0009	0.0003	0	0.0011	0	0	0.0003	0	0.0012	0.0009	0	0.004	0.68238	D	0.01	0.65728	D	0.044	0.21686	B	0.188	0.36237	B	0.000212	0.47681	D	0.242224	0.999962	0.52935	D	3.65	0.94181	H	.	.	.	-3.19	0.65512	D	0.317	0.44379	-0.2799	0.75543	T	0.384	0.74017	T	9	0.103964746	0.19141	T	0.018292	0.40304	T	0.420	0.72930	.	.	0.351180957027	0.34734	0.6746652736622659	0.67404	0.327423744052	0.34880	0.40165668726	0.25299	T	0.523081	0.83358	D	-0.289462	0.09690	T	-0.191933	0.55409	T	0.568959891796112	0.35195	D	0.928207	0.92647	D	0.48305067	0.66085	0.3890833	0.63736	0.48305067	0.66086	0.3890833	0.63736	-9.368	0.70035	D	.	.	0.295	0.52565	B	.;.	.;.	2.939676	0.39084	20.9	0.99830685011616438	0.91284	0.97455	0.74859	D	AEFBI	0.688905	0.64975	D	0.110711600717275	0.46961	2.928681	0.0446497815410737	0.41815	2.518424	0.976736715425694	0.29753	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.59	2.72	0.31179	4.436000	0.59691	2.886000	0.35360	0.599000	0.40250	1.000000	0.71638	0.984000	0.30665	0.777000	0.36790	0.0:0.7043:0.2957:0.0	13.675	0.61926	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	.	.	.	.	.	.	.	.	0.05	614.43	33	chr2	3499049	.	C	T	614.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.517;DP=462;ExcessHet=0;FS=1.75;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.02;ReadPosRankSum=-0.197;SOR=0.93	GT:AD:DP:GQ:PL	0/1:69,33:102:99:626,0,1682	9	0	1	0
chr2	15942167	15942167	T	C	exonic	MYCN	.	nonsynonymous SNV	MYCN:NM_001293228:exon2:c.T103C:p.F35L,MYCN:NM_005378:exon2:c.T103C:p.F35L	Feingold syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.044373811311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.06	0.45744	T	0.677	0.41330	P	0.518	0.48133	P	0.233754	0.03535	U	3.755950	1	0.81001	D	2.93	0.84523	M	1.49	0.31470	T	-4.1	0.74900	D	0.67	0.67822	-0.9421	0.42282	T	0.176	0.51974	T	10	0.64660263	0.69362	D	0.044374	0.61457	D	0.286	0.60456	0.684	0.82175	0.41089407703	0.40707	0.4334101353106042	0.43258	1.96884443498	0.93542	0.8407330513	0.88206	D	0.437509	0.78351	T	-0.0442364	0.45319	T	-0.301319	0.44585	T	0.985664367675781	0.76591	D	0.693531	0.30321	T	0.50143874	0.67179	0.5116405	0.71780	0.50143874	0.67180	0.5116405	0.71780	-9.153	0.68676	D	0.3311317344439049	0.42914	0.986	0.92555	P	.	.	5.096607	0.85133	28.5	0.99534555378436029	0.70087	0.94185	0.60371	D	AEFDBHCIJ	0.906427	0.85918	D	0.426405536680661	0.62880	4.51126	0.387417004661317	0.60788	4.270449	0.999999999989656	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.52208	0.10781	0	0.618803	0.45993	0	.	.	3.41	3.41	0.38145	7.806000	0.84575	5.954000	0.51702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	12.154	0.53373	961	0.08552	Transcription regulator Myc, 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	.	.	.	.	.	.	.	.	0.05	167.43	35	chr2	15942167	.	T	C	167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.1;DP=650;ExcessHet=0;FS=184.301;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.97;ReadPosRankSum=1.4;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:138,35:173:99:.:.:179,0,2922:.	9	0	1	0
chr2	21007033	21007033	T	C	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon26:c.A9835G:p.S3279G	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	0	1455	64	3	0	70	0.0234899	.	.	.	215238	Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_familial,_1|not_specified|Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_type_B|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN169374|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.264	.	0.0086	0.0071885	0.0044	0.0159	0.0067	0	0	0.0039	0.0121	0.0012	0.0044307	685	154602	rs12720854	0.0033	0.0033	0.0032	0.0033	0.0565	0.0032	0.0031	0.0515	0.0495	0.0184	0.0064	0.0102	0	0.0001	0.0565	0.0025	0.0065	0.0013	0.0076	0.0077	0.0076	0.0077	0.0170	0.0073	0.0071	0.0160	0.0156	0.0170	0	0.0103	0.0136	0.0002	0	0.0646	0.0029	0.0137	0.0010	0.015	0.52492	D	0.003	0.76473	D	.	.	.	.	.	.	0.232473	0.15889	N	0.611296	0.64386	0.30592	N	.	.	.	1.1	0.39050	T	-1.98	0.45769	N	0.246	0.27792	-0.6764	0.61538	T	0.159	0.49262	T	10	0.004425019	0.00090	T	.	.	.	0.264	0.57741	.	.	0.68203097115	0.67932	0.4890100810306947	0.48821	0.0491091118445	0.05371	0.247466355562	0.03505	T	.	.	.	-0.577868	0.00199	T	-0.589218	0.13734	T	0.0582436336760406	0.06889	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.15115	B	.	.	1.757170	0.22349	15.58	0.98647528733884859	0.44137	0.94699	0.62026	D	AEFBHCI	0.702324	0.65873	D	0.205179900652132	0.51449	3.326111	-0.00190597407924668	0.39631	2.352652	0.999990155919605	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.6	3.41	0.38145	3.427000	0.52552	0.098000	0.14610	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.120000	0.19168	0.0:0.0:0.1512:0.8488	11.412	0.49171	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	0.047835	0.080808	0.062500	0.073099	0.050000	0.094828	0.015244	0.000000	0.1	17371.1	43	chr2	21007033	.	T	C	17371.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.787;DP=1956;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=1.19;SOR=0.719	GT:AD:DP:GQ:PL	0/1:438,426:864:99:9454,0,10518	8	0	2	0
chr2	23562344	23562344	C	T	exonic	KLHL29	.	nonsynonymous SNV	KLHL29:NM_052920:exon3:c.C148T:p.R50W	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.45549128671	.	.	0.0002	0	0	0	0	0.0002	0.0072	0	1.94e-05	3	154602	rs558454968	5.246e-05	5.13e-05	4.677e-05	5.831e-05	0.0004	4.264e-05	3.922e-05	6.169e-05	3.863e-05	0	0	0	0	0	0.0004	5.386e-05	0.0002	5.061e-05	7.882e-05	7.879e-05	5.137e-05	0.0001	0.0001	4.495e-05	3.511e-05	6.803e-05	5.086e-05	4.823e-05	0	6.541e-05	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.929417	0.36926	D	0.55	0.14455	N	-0.85	0.74371	T	-1.57	0.37955	N	0.535	0.56317	-0.1638	0.78578	T	0.402	0.75288	T	9	0.5040903	0.61716	D	0.455491	0.94419	D	0.381	0.69863	0.318	0.29581	0.596065454935	0.59285	0.5586206083585827	0.55789	.	.	0.832406103611	0.86931	D	0.03148	0.22062	T	-0.201223	0.20629	T	-0.233332	0.51449	T	0.274639398822073	0.23945	T	0.908309	0.67561	D	0.12274774	0.28838	0.13873087	0.33124	0.12274774	0.28838	0.13873087	0.33123	-6.044	0.46646	T	.	.	0.646	0.70767	P	.	.	4.686662	0.75048	26.3	0.99918294624354953	0.98586	0.84469	0.43551	D	AEFDBI	0.473514	0.51817	N	0.302048932165448	0.56254	3.78979	0.277434468764627	0.54223	3.588112	0.999999723441956	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.62	3.73	0.41982	1.552000	0.35852	3.181000	0.36657	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.737000	0.35335	0.1919:0.8081:0.0:0.0	10.568	0.44373	918	0.19598	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1673.43	38	chr2	23562344	.	C	T	1673.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.708;DP=428;ExcessHet=0;FS=0.7;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-0.127;SOR=0.603	GT:AD:DP:GQ:PL	0/1:47,69:116:99:1685,0,953	9	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	.	.	.	.	.	.	.	.	0.3	149.87	81	chr2	23864893	.	T	C	149.87	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.021;DP=546;ExcessHet=4.5998;FS=193.172;InbreedingCoeff=-0.4024;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=0.279;SOR=8.069	GT:AD:DP:GQ:PL	0/1:34,14:48:6:6,0,364	4	0	6	0
chr2	30743578	30743578	C	T	exonic	CAPN13	.	nonsynonymous SNV	CAPN13:NM_144575:exon13:c.G1250A:p.R417Q	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.02015968382	0.0003	0.000199681	0.0006	0.0001	0	0	0	0.0005	0.0022	0.0024	0.0005239	81	154602	rs199664439	0.0003	0.0003	0.0002	0.0004	0.0021	0.0003	0.0002	0.0018	0.0017	8.961e-05	0	0.0056	2.519e-05	0	0.0021	4.317e-05	0.0003	0.0020	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0010	0.0007	0.0001	0	6.539e-05	0.0040	0	0	0	2.94e-05	0.0005	0.0019	0.558	0.06421	T	0.59	0.08217	T	0.0	0.02946	B	0.001	0.04355	B	0.023798	0.01599	N	2.057350	1	0.08975	N	-0.345	0.03330	N	-2.12	0.86283	D	0.4	0.03463	N	0.248	0.28028	-0.6886	0.60973	T	0.353	0.71681	T	10	0.0061825514	0.00139	T	0.02016	0.42696	T	0.142	0.37995	.	.	0.328486982098	0.32448	0.17992038303967106	0.17911	0.0685723490083	0.07678	0.19009770453	0.00227	T	0.064841	0.32536	T	-0.518367	0.00450	T	-0.523233	0.19968	T	0.0052359043274344	0.00057	T	0.334567	0.07109	T	0.018898956	0.00413	0.028977389	0.01186	0.018898956	0.00413	0.028977389	0.01186	-3.211	0.12615	T	.	.	0.074	0.05103	B	.	.	2.433607	0.31314	18.70	0.68717147169813797	0.08744	0.00161	0.00961	N	AEFBI	0.062672	0.12063	N	-1.52001050913413	0.01718	0.07520484	-1.49803001673664	0.02360	0.1084461	0.00725282706029168	0.11422	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.76	-0.414	0.11743	-0.337000	0.07898	0.890000	0.22465	-2.492000	0.00266	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.0:0.1348:0.1406:0.7245	6.879	0.23344	854	0.34840	Peptidase C2, calpain, large subunit, domain 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	1	0	0	0	0.003525	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.05	432.43	36	chr2	30743578	.	C	T	432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=328;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.02;ReadPosRankSum=-2.06;SOR=0.42	GT:AD:DP:GQ:PL	0/1:9,15:24:99:444,0,210	9	0	1	0
chr2	32611448	32611448	G	A	exonic	BIRC6	.	nonsynonymous SNV	BIRC6:NM_001378125:exon73:c.G14257A:p.V4753I,BIRC6:NM_016252:exon73:c.G14260A:p.V4754I	.	.	.	.	.	.	.	.	0.9987	0.838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0967507351937	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1237464725	1.377e-06	2.052e-06	1.37e-06	1.384e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.102	0.38450	T	.	.	.	.	.	.	0.000004	0.62929	D	0.060926	1	0.81001	D	.	.	.	-1.16	0.78082	T	-0.9	0.24244	N	0.637	0.64989	-0.2568	0.76174	T	0.454	0.78720	T	9	0.5507342	0.64241	D	0.096751	0.76656	D	0.361	0.68141	0.301	0.26843	0.742858459262	0.74054	0.4912516198523563	0.49046	0.245701231888	0.27094	0.775584161282	0.78262	T	.	.	.	0.0659311	0.60349	T	-0.143071	0.59851	T	0.774316285448076	0.44701	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.19720	B	.	.	3.950658	0.57877	23.9	0.99614270990187148	0.74992	0.96648	0.70202	D	AEFDBHCI	0.912989	0.87436	D	0.499343894379197	0.67051	5.030487	0.542990878420343	0.70913	5.575395	0.999999999982636	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.76	4.76	0.60189	9.909000	0.98664	11.696000	0.94428	0.575000	0.29119	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:0.0:1.0:0.0	17.794	0.88474	182	0.92924	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	799.14	34	chr2	32611448	.	G	A	799.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.396;DP=366;ExcessHet=0.2348;FS=1.978;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=-0.157;SOR=0.99	GT:AD:DP:GQ:PL	0/1:23,12:35:99:280,0,647	8	0	2	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	0.05	2187.43	33	chr2	48580986	.	G	T	2187.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.842;DP=895;ExcessHet=0;FS=3;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-1.517;SOR=0.893	GT:AD:DP:GQ:PL	0/1:138,96:234:99:2199,0,3462	9	0	1	0
chr2	64553270	64553270	G	A	exonic	AFTPH	.	nonsynonymous SNV	AFTPH:NM_001002243:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375969:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375970:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375971:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375972:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375973:exon2:c.G1796A:p.R599Q,AFTPH:NM_017657:exon2:c.G1796A:p.R599Q,AFTPH:NM_203437:exon2:c.G1796A:p.R599Q	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0105635573149	0.0012	0.000199681	0.0010	0.0002	0.0002	0	0.0003	0.0016	0	0.0004	0.0008991	139	154602	rs145180972	0.0012	0.0012	0.0012	0.0012	0.0047	0.0012	0.0011	0.0033	0.0028	0.0002	0.0010	0.0107	2.519e-05	9.361e-05	0.0047	0.0011	0.0017	0.0005	0.0010	0.0010	0.0009	0.0011	0.0030	0.0009	0.0008	0.0023	0.0021	0.0001	0	0.0030	0.0052	0	0.0003	0.0102	0.0011	0.0009	0.0004	0.151	0.24564	T	0.567	0.09588	T	0.999	0.77913	D	0.744	0.55835	P	0.000519	0.43753	D	0.143981	0.918307	0.27353	N	2.43	0.70455	M	1.89	0.23884	T	-0.36	0.13035	N	0.162	0.25867	-0.9407	0.42505	T	0.146	0.46967	T	10	0.0066280365	0.00150	T	0.010564	0.27238	T	0.106	0.30130	.	.	0.395439683604	0.39153	0.09268503856702141	0.09200	0.145550282508	0.16445	0.31736022234	0.13020	T	0.005785	0.05228	T	-0.390562	0.02668	T	-0.36917	0.36985	T	0.0419444429151859	0.04044	T	0.837516	0.51368	T	0.06829398	0.14865	0.066421665	0.13602	0.06829398	0.14865	0.066421665	0.13602	-2.131	0.03764	T	.	.	0.081	0.10256	B	.;.;.	.;.;.	3.608351	0.51007	23.0	0.99494756820086461	0.67687	0.94159	0.60291	D	AEFDBI	0.485845	0.52526	N	0.303078558336739	0.56307	3.795164	0.364641707865849	0.59393	4.116906	0.999957760131871	0.48110	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.01	5.13	0.69729	3.440000	0.52649	5.710000	0.49419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.7339:0.2661	14.489	0.67220	788	0.46569	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.004076	0.002924	0.100000	0.000000	0.000000	0.007576	0.05	1006.43	33	chr2	64553270	.	G	A	1006.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.16;DP=384;ExcessHet=0;FS=6.373;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.331;SOR=1.463	GT:AD:DP:GQ:PL	0/1:36,37:73:99:1018,0,837	9	0	1	0
chr2	71511847	71511847	G	A	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130455:exon5:c.G386A:p.G129E,DYSF:NM_001130976:exon5:c.G383A:p.G128E,DYSF:NM_001130977:exon5:c.G383A:p.G128E,DYSF:NM_001130978:exon5:c.G383A:p.G128E,DYSF:NM_001130979:exon5:c.G383A:p.G128E,DYSF:NM_001130980:exon5:c.G383A:p.G128E,DYSF:NM_001130981:exon5:c.G383A:p.G128E,DYSF:NM_001130982:exon5:c.G386A:p.G129E,DYSF:NM_001130983:exon5:c.G386A:p.G129E,DYSF:NM_001130984:exon5:c.G386A:p.G129E,DYSF:NM_001130985:exon5:c.G386A:p.G129E,DYSF:NM_001130986:exon5:c.G386A:p.G129E,DYSF:NM_001130987:exon5:c.G386A:p.G129E,DYSF:NM_003494:exon5:c.G383A:p.G128E	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	1	1476	43	2	0	47	0.0156719	.	.	YES	100211	not_provided|Muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy|not_specified|Miyoshi_muscular_dystrophy_1|DYSF-related_disorder|Inborn_genetic_diseases|Qualitative_or_quantitative_defects_of_dysferlin|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015|MedGen:CN169374|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.450	.	0.0030	0.00159744	0.0098	0.0011	0.0049	0	0	0.0183	0.0153	0.0045	0.0024579	380	154602	rs34997054	0.0047	0.0045	0.0045	0.0049	0.0374	0.0046	0.0045	0.0333	0.0317	0.0021	0.0052	0.0593	8.394e-05	0.0011	0.0374	0.0035	0.0081	0.0041	0.0041	0.0041	0.0041	0.0042	0.0040	0.0039	0.0038	0.0036	0.0035	0.0011	0	0.0034	0.0597	0	0.0009	0.0340	0.0040	0.0080	0.0035	0.002	0.72154	D	0.025	0.63918	D	1.0	0.90584	D	0.987	0.97372	D	0.000000	0.84330	D	0.000000	0.999691	0.48338	D	1.7	0.43825	L	-0.58	0.71425	T	-2.68	0.59545	D	0.704	0.76296	-0.1933	0.77844	T	0.368	0.72795	T	10	0.0076210797	0.00173	T	.	.	.	0.450	0.75074	.	.	0.847117957773	0.84565	0.41910220952667493	0.41826	0.400537334798	0.41053	0.596444606781	0.52402	T	0.331191	0.70129	T	-0.0527792	0.44023	T	0.155415	0.80523	D	0.0127962040610685	0.00217	T	0.982152	0.93936	D	0.43304807	0.62951	0.52332085	0.72460	0.42248505	0.62257	0.40962756	0.65246	-4.861	0.38305	T	0.4157276245324331	0.50529	0.262	0.52260	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.332963	0.66407	25.0	0.99815122670572842	0.89885	0.97539	0.75410	D	AEFDBI	0.896243	0.83710	D	0.627165512649695	0.74898	6.211737	0.598653342606489	0.74844	6.206532	0.99999999997923	0.74766	0.706548	0.73137	0	0.563428	0.19063	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.45	4.45	0.53365	8.146000	0.89551	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	0.0:0.0:1.0:0.0	14.640	0.68316	575	0.70088	.;.;.;.;Ferlin, first C2 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	0.033548	0.021053	0.044922	0.036424	0.111111	0.025000	0.029197	0.010417	0.05	921.43	33	chr2	71511847	.	G	A	921.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.777;DP=400;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.09;SOR=0.72	GT:AD:DP:GQ:PL	0/1:38,41:79:99:933,0,893	9	0	1	0
chr2	71665214	71665214	C	T	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon45:c.C5068T:p.L1690F,DYSF:NM_001130986:exon45:c.C5071T:p.L1691F,DYSF:NM_001130455:exon46:c.C5113T:p.L1705F,DYSF:NM_001130977:exon46:c.C5131T:p.L1711F,DYSF:NM_001130980:exon46:c.C5161T:p.L1721F,DYSF:NM_001130984:exon46:c.C5134T:p.L1712F,DYSF:NM_001130985:exon46:c.C5164T:p.L1722F,DYSF:NM_003494:exon46:c.C5110T:p.L1704F,DYSF:NM_001130978:exon47:c.C5173T:p.L1725F,DYSF:NM_001130979:exon47:c.C5203T:p.L1735F,DYSF:NM_001130981:exon47:c.C5224T:p.L1742F,DYSF:NM_001130982:exon47:c.C5206T:p.L1736F,DYSF:NM_001130983:exon47:c.C5176T:p.L1726F,DYSF:NM_001130987:exon47:c.C5227T:p.L1743F	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	826963	Qualitative_or_quantitative_defects_of_dysferlin|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B	MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.352	0.0397205831479	.	0.000399361	9.888e-05	0	0	0	0	0	0	0.0007	9.06e-05	14	154602	rs575920691	3.831e-05	3.831e-05	1.906e-05	5.776e-05	0.0006	3.026e-05	2.719e-05	0.0005	0.0004	2.987e-05	0	0	0	0	0	0	4.968e-05	0.0006	5.909e-05	5.905e-05	3.856e-05	8.054e-05	0.0019	3.075e-05	2.209e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.053	0.38863	T	0.049	0.48336	D	0.886	0.65571	P	0.708	0.60373	P	0.027257	0.25787	N	0.408807	0.731601	0.33725	D	2.045	0.56016	M	-1.65	0.82715	D	-1.03	0.27052	N	0.469	0.52829	0.416	0.89332	D	0.593	0.85464	D	10	0.09031057	0.15721	T	0.039721	0.58968	D	0.352	0.67326	0.451	0.51285	0.848428311336	0.84697	0.39866982273070634	0.39781	0.19754653574	0.22128	0.465357869864	0.34044	T	0.378778	0.74167	T	-0.26619	0.12185	T	-0.270708	0.47749	T	0.105919389062039	0.12996	T	0.954005	0.82493	D	0.072558865	0.16151	0.08518882	0.19652	0.072558865	0.16150	0.08518882	0.19651	-6.612	0.52722	T	0.3607585485925635	0.45723	0.118	0.26762	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.238483	0.44194	21.9	0.99868477314462323	0.94637	0.90234	0.51250	D	AEFBI	0.465584	0.51359	N	0.486736348726938	0.66314	4.934254	0.492872422369425	0.67515	5.094588	0.986610022823647	0.31095	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.41	4.48	0.53973	2.060000	0.41020	.	.	0.599000	0.40250	1.000000	0.71638	0.258000	0.23964	0.997000	0.79791	0.3085:0.6915:0.0:0.0	10.563	0.44344	420	0.81451	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	905.43	33	chr2	71665214	.	C	T	905.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.66;DP=430;ExcessHet=0;FS=1.491;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=1.48;SOR=0.554	GT:AD:DP:GQ:PL	0/1:78,44:122:99:917,0,1763	9	0	1	0
chr2	73426482	73426482	G	A	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon6:c.G1267A:p.V423I,ALMS1:NM_015120:exon6:c.G1267A:p.V423I	Alstrom syndrome, Autosomal recessive	2	1502	17	1	0	19	0.00628515	.	.	.	238977	not_provided|Cardiovascular_phenotype|Retinal_dystrophy|Alstrom_syndrome|not_specified|Monogenic_diabetes	MedGen:C3661900|MedGen:CN230736|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:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:CN169374|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.023	0.00345612667814	0.0033	0.00179712	0.0026	0.0009	0.0005	0	0.0027	0.0030	0	0.0050	0.0027167	420	154602	rs45630557	0.0040	0.0040	0.0040	0.0040	0.0054	0.0039	0.0039	0.0050	0.0048	0.0007	0.0004	0.0009	5.038e-05	0.0028	0.0017	0.0044	0.0035	0.0054	0.0029	0.0029	0.0030	0.0028	0.0064	0.0027	0.0026	0.0047	0.0041	0.0008	0	0.0007	0.0003	0	0.0037	0	0.0047	0.0024	0.0064	.	.	.	1.0	0.02459	T	0.0	0.02946	B	0.0	0.01387	B	0.747686	0.06466	N	1.155680	1	0.08975	N	0.55	0.14455	N	.	.	.	.	.	.	0.08	0.05542	-0.9575	0.39644	T	0.026	0.11087	T	10	0.004122615	0.00081	T	0.003456	0.07786	T	.	.	.	.	0.171388866994	0.16791	0.006995272376326678	0.00666	.	.	0.252609908581	0.04047	T	0.013741	0.17914	T	-0.577617	0.00199	T	-0.598757	0.12915	T	0.00138119108586919	0.00014	T	0.568943	0.20320	T	0.0102147795	0.00006	0.023596251	0.00373	0.012878834	0.00044	0.026542263	0.00749	-3.545	0.17067	T	.	.	0.065	0.02038	B	.;.;.	.;.;.	-1.080854	0.00664	0.018	0.72303482062225	0.09926	0.00493	0.02333	N	AEFGBI	0.014563	0.00238	N	-1.60831193230195	0.01223	0.05320218	-1.59728870139726	0.01672	0.07592029	0.00646401893511308	0.11224	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	4.67	0.203	0.14472	-0.251000	0.08837	0.014000	0.13486	-1.554000	0.00958	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6658:0.0:0.3342:0.0	8.390	0.31685	549	0.72275	.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	588.43	35	chr2	73426482	.	G	A	588.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.45;DP=362;ExcessHet=0;FS=2.182;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-0.462;SOR=1.022	GT:AD:DP:GQ:PL	0/1:32,26:58:99:600,0,692	9	0	1	0
chr2	86987000	86987000	A	T	exonic	RGPD1;RGPD2	.	nonsynonymous SNV	RGPD1:NM_001024457:exon20:c.A4077T:p.K1359N,RGPD2:NM_001078170:exon20:c.A4101T:p.K1367N,RGPD1:NM_001382344:exon20:c.A4101T:p.K1367N	.	140	1342	38	2	0	42	0.0154072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	.	0.0046	0.00319489	0.0257	0.0063	0.0236	0	0.0714	0.0294	0.0185	0.0464	0.0032535	503	154602	rs200614914	0.0085	0.0084	0.0083	0.0086	0.0129	0.0083	0.0083	0.0110	0.0108	0.0013	0.0041	0.0080	0	0.0050	0.0129	0.0091	0.0081	0.0116	0.0059	0.0058	0.0058	0.0059	0.0102	0.0055	0.0054	0.0079	0.0071	0.0019	0	0.0067	0.0078	0	0.0054	0.0068	0.0077	0.0035	0.0102	0.0	0.91255	D	0.01	0.65728	D	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.740104	0.33813	D	3.48	0.92553	M	0.56	0.54540	T	-3.94	0.73378	D	0.63	0.65930	-0.3505	0.73539	T	0.272	0.64318	T	9	0.013425499	0.00285	T	.	.	.	0.275	0.59130	0.695	0.83219	0.202086224978	0.19791	0.028640529261616688	0.02814	.	.	0.781320095062	0.79126	T	0.403098	0.75994	T	-0.306874	0.08026	T	-0.202549	0.54404	T	0.053325045628606	0.06074	T	0.985001	0.94819	D	0.62276155	0.73911	0.563675	0.74749	0.62276155	0.73912	0.563675	0.74750	-11.857	0.84147	D	.	.	0.859	0.80277	P	.;.;.;.	.;.;.;.	2.950365	0.39262	20.9	0.99837476353400023	0.91800	0.72485	0.35477	D	AEFI	0.369293	0.45608	N	0.314513138487155	0.56894	3.854849	0.115960413105428	0.45364	2.800929	2.12320490887038E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	2.35	1.19	0.20120	1.054000	0.30064	1.076000	0.23848	0.359000	0.20063	1.000000	0.71638	0.992000	0.31684	0.915000	0.45038	0.8335:0.0:0.1665:0.0	5.292	0.15045	544	0.72685	Ran binding domain|Ran binding domain|Ran binding domain;Ran binding domain|Ran binding domain|Ran binding domain;Ran binding domain|Ran binding domain|Ran binding domain;Ran binding domain|Ran binding domain|Ran 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	0.005442	0.000000	0.007205	0.006329	0.000000	0.000000	0.004386	0.000000	0.05	2523.43	34	chr2	86987000	.	A	T	2523.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.698;DP=618;ExcessHet=0;FS=1.385;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=33.38;MQRankSum=-1.783;QD=8.3;ReadPosRankSum=-1.335;SOR=0.79	GT:AD:DP:GQ:PL	0/1:173,131:304:99:2535,0,3551	9	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	2261.95	255	chr2	94876587	.	C	A	2261.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.331;DP=2020;ExcessHet=7.0302;FS=4.884;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.43;MQRankSum=-15.6;QD=1.32;ReadPosRankSum=-3.168;SOR=1.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,16:207:97:0|1:94876587_C_A:97,0,7955:94876587	3	0	7	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	12818.0	371	chr2	94876618	.	C	G	12818.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.592;DP=2902;ExcessHet=10.3881;FS=1.546;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.49;MQRankSum=-16.9;QD=4.98;ReadPosRankSum=-3.186;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,45:290:99:0|1:94876587_C_A:1152,0,10152:94876587	2	0	8	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	0.45	17750.0	414	chr2	94876632	.	C	T	17750.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.235;DP=3296;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.17;MQRankSum=-17.88;QD=5.56;ReadPosRankSum=-1.61;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,56:322:99:0|1:94876587_C_A:1551,0,10899:94876587	1	0	9	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	.	.	.	.	.	.	.	.	0.45	22415.0	462	chr2	94876671	.	A	G	22415.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-5.483;DP=3731;ExcessHet=15.1594;FS=0.656;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=56.88;MQRankSum=-18.99;QD=6.13;ReadPosRankSum=4.6;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:305,73:378:99:0|1:94876671_A_G:2147,0,12428:94876671	1	0	9	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	0.45	22825.0	467	chr2	94876674	.	G	A	22825.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-5.542;DP=3741;ExcessHet=15.1594;FS=0.654;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=56.87;MQRankSum=-19.21;QD=6.22;ReadPosRankSum=4.81;SOR=0.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:307,73:380:99:0|1:94876671_A_G:2141,0,12501:94876671	1	0	9	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.4	9474.98	407	chr2	94876731	.	C	T	9474.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.787;DP=3262;ExcessHet=10.3881;FS=2.421;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.44;MQRankSum=-19.06;QD=3.04;ReadPosRankSum=-0.667;SOR=0.952	GT:AD:DP:GQ:PL	0/1:318,57:375:99:928,0,7773	2	0	8	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	3218.11	408	chr2	94876737	.	C	A	3218.11	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.43;DP=2132;ExcessHet=2.8389;FS=1.922;InbreedingCoeff=-0.3316;MLEAC=5;MLEAF=0.25;MQ=57.08;MQRankSum=-12.5;QD=1.67;ReadPosRankSum=-1.101;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:346,29:375:99:0|1:94876737_C_A:176,0,14338:94876737	5	0	5	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3284.14	401	chr2	94876740	.	A	C	3284.14	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.303;DP=2122;ExcessHet=2.8389;FS=1.912;InbreedingCoeff=-0.3332;MLEAC=5;MLEAF=0.25;MQ=57.08;MQRankSum=-12.57;QD=1.72;ReadPosRankSum=-1.808;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,29:373:99:0|1:94876737_C_A:182,0,14274:94876737	5	0	5	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	10728.0	198	chr2	95855390	.	T	C	10728.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=3.24;DP=2185;ExcessHet=22.563;FS=21.098;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.81;MQRankSum=-10.64;QD=5.08;ReadPosRankSum=-6.398;SOR=2.057	GT:AD:DP:GQ:PL	0/1:132,63:195:99:1491,0,3317	0	0	10	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H	.	432	686	404	0	0	404	0.227477	.	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2496.4	201	chr2	95855406	.	C	G	2496.4	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.676;DP=2375;ExcessHet=2.8389;FS=5.12;InbreedingCoeff=-0.3061;MLEAC=4;MLEAF=0.2;MQ=53.72;MQRankSum=-6.642;QD=2.08;ReadPosRankSum=-2.045;SOR=1.277	GT:AD:DP:GQ:PL	0/1:202,32:234:99:349,0,5806	5	0	5	0
chr2	95855532	95855532	T	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5827C:p.I1943L	.	432	980	109	1	0	111	0.0535973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	.	.	.	0.0326	0.0706	0.0182	0.0090	0.0231	0.0311	0.0376	0.0445	7.68e-05	2	26028	rs112858216	6.854e-07	6.156e-06	1.364e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	0	1.313e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.119	0.28026	T	0.037	0.51737	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.54	0.13916	T	-0.89	0.24026	N	0.187	0.20395	-0.9674	0.37733	T	0.013	0.04843	T	7	0.0037541986	0.00070	T	.	.	.	0.005	0.00259	0.247	0.18293	.	.	0.029755129249007927	0.02924	.	.	.	.	.	0.001717	0.01139	T	-0.373008	0.03445	T	-0.773577	0.02653	T	0.00218303418063386	0.00023	T	0.340666	0.07366	T	0.044085097	0.06984	0.046755914	0.06587	0.044085097	0.06984	0.046755914	0.06587	-3.964	0.23263	T	.	.	0.161	0.35498	B	.	.	-0.079786	0.03764	0.785	0.7016925376513895	0.09208	0.01678	0.05360	N	AEFI	0.043258	0.06816	N	-1.01735734093612	0.08243	0.3858304	-1.18373099282675	0.06180	0.2967244	2.11620199757736E-5	0.03498	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.636168	0.56350	0	.	.	2.11	-2.62	0.05793	-0.723000	0.05056	-11.676000	0.00585	0.312000	0.19173	0.000000	0.06391	0.000000	0.08366	0.143000	0.20056	0.1943:0.1355:0.1985:0.4718	0.732	0.00897	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	.	.	.	.	.	.	.	.	0.1	34.17	323	chr2	95855532	.	T	G	34.17	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.484;DP=3032;ExcessHet=0.2348;FS=0.95;InbreedingCoeff=-0.1087;MLEAC=2;MLEAF=0.1;MQ=45;MQRankSum=-2.278;QD=0.05;ReadPosRankSum=-0.614;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:333,25:358:37:0|1:95855523_G_C:37,0,13648:95855523	8	0	2	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	29732.0	323	chr2	95855549	.	T	C	29732.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.71;DP=3043;ExcessHet=22.563;FS=10.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.38;MQRankSum=-11.67;QD=10.06;ReadPosRankSum=0.065;SOR=1.292	GT:AD:DP:GQ:PL	0/1:160,163:323:99:3905,0,3961	0	0	10	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	23128.0	277	chr2	95855576	.	A	G	23128.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.388;DP=2563;ExcessHet=22.563;FS=25.938;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.02;MQRankSum=-11.14;QD=9.29;ReadPosRankSum=-3.416;SOR=1.932	GT:AD:DP:GQ:PL	0/1:157,113:270:99:3119,0,4194	0	0	10	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	2532.98	278	chr2	95855586	.	T	C	2532.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.765;DP=2381;ExcessHet=10.3881;FS=20.257;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=47.03;MQRankSum=-5.391;QD=1.31;ReadPosRankSum=-1.294;SOR=2.4	GT:AD:DP:GQ:PL	0/1:229,26:255:68:68,0,8516	2	0	8	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	16467.0	271	chr2	95855588	.	T	C	16467.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.817;DP=2387;ExcessHet=22.563;FS=33.426;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=47.27;MQRankSum=-10.54;QD=7.16;ReadPosRankSum=-3.626;SOR=2.329	GT:AD:DP:GQ:PL	0/1:153,91:244:99:2394,0,4116	0	0	10	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	.	.	.	.	.	.	.	.	0.35	3460.98	101	chr2	95859895	.	T	C	3460.98	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.147;DP=709;ExcessHet=7.0302;FS=1.515;InbreedingCoeff=-0.5391;MLEAC=7;MLEAF=0.35;MQ=58.18;MQRankSum=-1.883;QD=7.09;ReadPosRankSum=-0.362;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,9:60:99:.:.:149,0,2091:.	3	0	7	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	10909.0	176	chr2	95859969	.	A	AT	10909.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.932;DP=1221;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.94;MQRankSum=-7.848;QD=9.05;ReadPosRankSum=0.563;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,11:82:99:0|1:95859969_A_AT:237,0,2867:95859969	0	0	10	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	10942.0	176	chr2	95859970	.	G	T	10942.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.161;DP=1219;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.93;MQRankSum=-7.945;QD=9.05;ReadPosRankSum=0.658;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,11:82:99:0|1:95859969_A_AT:237,0,2867:95859969	0	0	10	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	10894.0	178	chr2	95859975	.	C	T	10894.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.325;DP=1203;ExcessHet=22.563;FS=2.826;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.89;MQRankSum=-7.848;QD=9.12;ReadPosRankSum=0.594;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,10:80:99:0|1:95859969_A_AT:206,0,2860:95859969	0	0	10	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	9586.04	176	chr2	95859988	.	T	C	9586.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.058;DP=1199;ExcessHet=22.563;FS=2.87;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.82;MQRankSum=-7.568;QD=8.1;ReadPosRankSum=-0.168;SOR=0.973	GT:AD:DP:GQ:PL	0/1:68,9:77:99:174,0,1650	0	0	10	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	7776.04	171	chr2	95860002	.	T	A	7776.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.667;DP=1147;ExcessHet=22.563;FS=2.169;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.83;MQRankSum=-6.851;QD=6.85;ReadPosRankSum=-0.911;SOR=0.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,7:71:99:0|1:95860002_T_A:101,0,2568:95860002	0	0	10	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	8461.04	165	chr2	95860007	.	A	T	8461.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.586;DP=1122;ExcessHet=22.563;FS=3.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.81;MQRankSum=-7.219;QD=7.6;ReadPosRankSum=-1.213;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,7:67:99:0|1:95860002_T_A:113,0,2467:95860002	0	0	10	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	7240.04	151	chr2	95860020	.	G	A	7240.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.1;DP=1028;ExcessHet=22.563;FS=5.221;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.247;QD=7.14;ReadPosRankSum=-1.475;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,6:59:92:0|1:95860020_G_A:92,0,2116:95860020	0	0	10	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	6874.04	150	chr2	95860023	.	A	C	6874.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.07;DP=1000;ExcessHet=22.563;FS=6.519;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.331;QD=6.9;ReadPosRankSum=-1.636;SOR=1.231	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,6:58:95:0|1:95860020_G_A:95,0,2082:95860020	0	0	10	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	6780.01	153	chr2	95927222	.	G	GAT	6780.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.39;DP=1300;ExcessHet=22.563;FS=36.882;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.27;MQRankSum=-8.534;QD=5.25;ReadPosRankSum=-4.266;SOR=3.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,22:137:99:0|1:95927222_G_GAT:578,0,4763:95927222	0	0	10	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	10021.0	172	chr2	95927226	.	GTT	G	10021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.93;DP=1457;ExcessHet=22.563;FS=15.566;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.12;MQRankSum=-9.165;QD=6.89;ReadPosRankSum=-4.116;SOR=2.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,27:152:99:0|1:95927222_G_GAT:757,0,5167:95927222	0	0	10	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	13156.0	192	chr2	95927234	.	T	C	13156.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.459;DP=1595;ExcessHet=22.563;FS=10.628;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.9;MQRankSum=-9.948;QD=8.25;ReadPosRankSum=-5.267;SOR=1.435	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,36:170:99:0|1:95927222_G_GAT:1108,0,5518:95927222	0	0	10	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	26684.0	255	chr2	95927252	.	A	G	26684.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.671;DP=2139;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.89;MQRankSum=-12.53;QD=12.48;ReadPosRankSum=-5.1;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,73:213:99:0|1:95927222_G_GAT:2644,0,5659:95927222	0	0	10	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	36703.0	299	chr2	95927268	.	C	A	36703.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-4.947;DP=2541;ExcessHet=22.563;FS=3.353;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.06;MQRankSum=-13.88;QD=14.46;ReadPosRankSum=-4.025;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,93:253:99:0|1:95927222_G_GAT:3403,0,6345:95927222	0	0	10	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	37021.0	320	chr2	95927277	.	C	T	37021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.131;DP=2686;ExcessHet=22.563;FS=3.336;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.08;MQRankSum=-14.3;QD=14.04;ReadPosRankSum=-1.349;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,96:266:99:0|1:95927222_G_GAT:3438,0,6600:95927222	0	0	10	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	13585.0	206	chr2	95929092	.	T	C	13585.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.99;DP=1657;ExcessHet=22.563;FS=12.134;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=48.26;MQRankSum=-8.366;QD=8.24;ReadPosRankSum=-2.829;SOR=1.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,28:137:99:0|1:95929092_T_C:832,0,4451:95929092	0	0	10	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	16538.0	236	chr2	95929110	.	A	G	16538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=8.4;DP=1892;ExcessHet=22.563;FS=17.499;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.47;MQRankSum=-8.35;QD=8.75;ReadPosRankSum=-1.353;SOR=1.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,31:159:99:0|1:95929092_T_C:916,0,5261:95929092	0	0	10	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	23460.0	271	chr2	95929126	.	C	A	23460.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=4.32;DP=2223;ExcessHet=22.563;FS=26.443;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.92;MQRankSum=-9.139;QD=10.56;ReadPosRankSum=-1.058;SOR=2.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,43:182:99:0|1:95929092_T_C:1387,0,5707:95929092	0	0	10	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	24873.0	281	chr2	95929130	.	G	C	24873.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.79;DP=2277;ExcessHet=22.563;FS=24.162;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.53;MQRankSum=-8.928;QD=10.93;ReadPosRankSum=-1.036;SOR=2.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,45:185:99:0|1:95929092_T_C:1468,0,5743:95929092	0	0	10	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	26298.0	285	chr2	95929135	.	C	T	26298.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.09;DP=2381;ExcessHet=22.563;FS=26.117;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=43.98;MQRankSum=-8.81;QD=11.3;ReadPosRankSum=-1.019;SOR=2.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,47:188:99:0|1:95929092_T_C:1533,0,5759:95929092	0	0	10	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2008.94	160	chr2	97185336	.	GC	G	2008.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.691;DP=1002;ExcessHet=10.3881;FS=1.877;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=47.13;MQRankSum=-4.821;QD=2.23;ReadPosRankSum=0.714;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,10:103:99:0|1:97185336_GC_G:140,0,3875:97185336	2	0	8	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	.	.	.	.	.	.	.	.	0.4	2007.98	167	chr2	97185340	.	C	G	2007.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.465;DP=1013;ExcessHet=10.3881;FS=1.853;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=46.82;MQRankSum=-4.808;QD=2.2;ReadPosRankSum=0.876;SOR=0.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,10:106:99:0|1:97185336_GC_G:131,0,4001:97185336	2	0	8	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1983.94	169	chr2	97185341	.	A	AG	1983.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.507;DP=1021;ExcessHet=10.3881;FS=0.867;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=46.66;MQRankSum=-4.689;QD=2.15;ReadPosRankSum=1.2;SOR=0.521	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,10:107:99:0|1:97185336_GC_G:128,0,4043:97185336	2	0	8	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1905.94	179	chr2	97185345	.	GTAAT	G	1905.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.397;DP=1063;ExcessHet=10.3881;FS=0.865;InbreedingCoeff=-0.6663;MLEAC=8;MLEAF=0.4;MQ=45.93;MQRankSum=-4.495;QD=1.98;ReadPosRankSum=1.87;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,12:115:99:0|1:97185336_GC_G:153,0,4282:97185336	2	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	.	.	.	.	.	.	.	.	0.15	220.23	35	chr2	97243982	.	A	G	220.23	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.51;DP=686;ExcessHet=0.7463;FS=18.92;InbreedingCoeff=-0.1965;MLEAC=3;MLEAF=0.15;MQ=39.09;MQRankSum=-2.496;QD=0.65;ReadPosRankSum=0.467;SOR=1.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,7:67:99:0|1:97243981_C_T:113,0,2498:97243981	7	0	3	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	.	.	.	.	.	.	.	.	0.2	400.57	35	chr2	97243989	.	C	T	400.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.099;DP=774;ExcessHet=1.5895;FS=29.789;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=38.65;MQRankSum=-2.483;QD=1.01;ReadPosRankSum=0.724;SOR=1.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,7:65:99:0|1:97243981_C_T:119,0,2414:97243981	6	0	4	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	0.5	22311.0	211	chr2	97513220	.	G	A	22311.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.053;DP=1505;ExcessHet=22.563;FS=2.574;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.14;MQRankSum=-3.622;QD=14.84;ReadPosRankSum=0.342;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,48:133:99:0|1:97513219_T_C:1760,0,3425:97513219	0	0	10	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	0.5	23638.0	227	chr2	97513227	.	T	C	23638.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.435;DP=1607;ExcessHet=22.563;FS=2.554;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.25;MQRankSum=-3.798;QD=14.94;ReadPosRankSum=0.612;SOR=0.875	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,52:141:99:0|1:97513219_T_C:1907,0,3581:97513219	0	0	10	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	.	.	.	.	.	.	.	.	0.5	29141.0	257	chr2	97513244	.	G	T	29141.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.874;DP=1818;ExcessHet=22.563;FS=1.121;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.81;MQRankSum=-4.032;QD=16.06;ReadPosRankSum=0.265;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,67:165:99:0|1:97513244_G_T:2518,0,3867:97513244	0	0	10	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	0.5	31529.0	274	chr2	97513253	.	A	G	31529.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.011;DP=1915;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.66;ReadPosRankSum=-0.44;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,68:166:99:0|1:97513244_G_T:2560,0,3870:97513244	0	0	10	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	0.5	31538.0	273	chr2	97513254	.	C	T	31538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.403;DP=1919;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.69;ReadPosRankSum=-0.7;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,68:166:99:0|1:97513244_G_T:2560,0,3870:97513244	0	0	10	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	0.5	34648.0	295	chr2	97513268	.	C	T	34648.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.562;DP=2031;ExcessHet=22.563;FS=1.756;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.45;MQRankSum=-4.865;QD=17.14;ReadPosRankSum=-0.434;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,73:173:99:0|1:97513268_C_T:2744,0,3979:97513268	0	0	10	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	0.5	32483.0	301	chr2	97513270	.	A	C	32483.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.141;DP=2044;ExcessHet=22.563;FS=1.745;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.51;MQRankSum=-4.865;QD=15.9;ReadPosRankSum=-0.382;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,73:173:99:0|1:97513268_C_T:2744,0,3979:97513268	0	0	10	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	0.5	34968.0	304	chr2	97513271	.	T	C	34968.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.323;DP=2052;ExcessHet=22.563;FS=1.108;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.54;MQRankSum=-4.877;QD=17.04;ReadPosRankSum=-0.39;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,72:173:99:0|1:97513268_C_T:2719,0,4004:97513268	0	0	10	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	0.5	34754.0	295	chr2	97513281	.	C	T	34754.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.105;DP=2075;ExcessHet=22.563;FS=1.744;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.89;MQRankSum=-5.07;QD=16.85;ReadPosRankSum=-0.404;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,71:169:99:0|1:97513268_C_T:2686,0,3846:97513268	0	0	10	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	8228.04	185	chr2	97513354	.	T	C	8228.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.32;DP=1254;ExcessHet=22.563;FS=1.23;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=40.12;MQRankSum=-3.558;QD=6.78;ReadPosRankSum=0.474;SOR=0.601	GT:AD:DP:GQ:PL	0/1:63,30:93:99:630,0,1497	0	0	10	0
chr2	106423468	106423468	G	A	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon20:c.C4499T:p.T1500I	.	200	1309	13	0	0	13	0.00494109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0119896907415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1273465468	4.199e-05	0.0002	2.786e-05	5.624e-05	0.0006	3.289e-05	2.946e-05	0.0004	0.0004	0	0.0004	0	0	0	0	0	0	0.0006	0.0003	0.0014	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0004	0	0.0006	0	0	0	0	0.0002	0.0011	0.0005	0.047	0.40319	D	0.02	0.58613	D	0.736	0.42845	P	0.169	0.35248	B	.	.	.	.	0.990442	0.24170	N	2.65	0.77586	M	0.79	0.49068	T	-3.72	0.70793	D	0.384	0.42541	-0.9758	0.35948	T	0.122	0.42357	T	9	0.27889556	0.45461	T	0.01199	0.30154	T	0.205	0.49236	0.255	0.19533	0.154104182512	0.14974	0.02645934888400776	0.02595	.	.	0.887564063072	0.94954	D	0.07577	0.35257	T	-0.202734	0.20411	T	-0.52899	0.19387	T	0.90847259759903	0.56307	D	0.720928	0.33404	T	0.28036207	0.51083	0.24469802	0.49942	0.28036207	0.51083	0.24469802	0.49941	-3.259	0.13214	T	.	.	0.913	0.83681	P	.;.	.;.	4.146309	0.62163	24.4	0.99662394313883751	0.78011	0.97234	0.73484	D	AEFI	0.591115	0.58734	D	0.0544002248301934	0.44345	2.710265	0.00862253652414415	0.40113	2.388896	5.45496462360253E-5	0.04171	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.35	2.35	0.28166	7.458000	0.79818	11.915000	0.99681	0.315000	0.19243	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	10.412	0.43482	909	0.22467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	78.53	77	chr2	106423468	.	G	A	78.53	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.896;DP=401;ExcessHet=0.2348;FS=22.465;InbreedingCoeff=-0.1258;MLEAC=2;MLEAF=0.1;MQ=28.6;MQRankSum=0.604;QD=0.9;ReadPosRankSum=-2.571;SOR=4.187	GT:AD:DP:GQ:PL	0/1:19,5:24:73:73,0,549	8	0	2	0
chr2	109564424	109564424	G	A	exonic	SEPTIN10	.	nonsynonymous SNV	SEPTIN10:NM_001321503:exon4:c.C400T:p.R134C,SEPTIN10:NM_001321506:exon4:c.C400T:p.R134C,SEPTIN10:NM_001321511:exon4:c.C400T:p.R134C,SEPTIN10:NM_001321499:exon5:c.C469T:p.R157C,SEPTIN10:NM_001321504:exon5:c.C391T:p.R131C,SEPTIN10:NM_001321505:exon5:c.C391T:p.R131C,SEPTIN10:NM_001321508:exon5:c.C391T:p.R131C,SEPTIN10:NM_001321510:exon5:c.C469T:p.R157C,SEPTIN10:NM_001321496:exon6:c.C571T:p.R191C,SEPTIN10:NM_001321507:exon6:c.C571T:p.R191C,SEPTIN10:NM_001321500:exon7:c.C901T:p.R301C,SEPTIN10:NM_001321502:exon7:c.C901T:p.R301C,SEPTIN10:NM_001321515:exon7:c.C874T:p.R292C,SEPTIN10:NM_178584:exon7:c.C901T:p.R301C,SEPTIN10:NM_001321498:exon8:c.C970T:p.R324C,SEPTIN10:NM_001321501:exon8:c.C844T:p.R282C,SEPTIN10:NM_001321509:exon8:c.C844T:p.R282C,SEPTIN10:NM_001321512:exon8:c.C970T:p.R324C,SEPTIN10:NM_001321513:exon8:c.C943T:p.R315C,SEPTIN10:NM_001321514:exon8:c.C925T:p.R309C,SEPTIN10:NM_144710:exon8:c.C970T:p.R324C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.670	0.0847226887905	.	.	2.486e-05	0	0	0.0001	0	0	0	0.0001	1.94e-05	3	154602	rs766181304	1.249e-05	1.436e-05	2.754e-06	2.237e-05	3.66e-05	7.8e-06	6.44e-06	9.72e-06	5.08e-06	0	0	0	2.546e-05	0	0	1.182e-05	1.682e-05	3.66e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.35537	T	0.13	0.34716	T	0.287	0.38282	B	0.127	0.37734	B	0.000003	0.62929	D	0.000000	1	0.81001	D	2.13	0.59329	M	-1.71	0.83157	D	-6.32	0.90852	D	0.732	0.73735	0.167	0.85345	D	0.653	0.87927	D	10	0.82037276	0.81246	D	0.084723	0.74385	D	0.670	0.87771	.	.	0.930659927052	0.92995	0.5566192088358923	0.55588	0.0773814425042	0.08700	0.706947803497	0.68150	T	0.078526	0.56859	T	0.260862	0.79609	D	0.320324	0.89103	D	0.724351406097412	0.41919	D	0.966303	0.87634	D	0.31850418	0.54513	0.2591091	0.51654	0.31850418	0.54513	0.2591091	0.51653	-10.784	0.79190	D	.	.	0.177	0.52467	B	.;.;.;.;.	.;.;.;.;.	4.481345	0.69927	25.4	0.99127223003626719	0.53169	0.98651	0.85151	D	AEFDBI	0.952971	0.96887	D	0.118055864164926	0.47305	2.958115	0.16442191837998	0.47911	3.014347	0.999999999999086	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.88	4.88	0.63131	6.505000	0.73620	7.592000	0.61280	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.358000	0.25841	0.0:0.0:1.0:0.0	18.41	0.90493	813	0.42397	Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1374.43	33	chr2	109564424	.	G	A	1374.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.246;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-0.615;SOR=0.728	GT:AD:DP:GQ:PL	0/1:57,63:120:99:1386,0,1353	9	0	1	0
chr2	110794148	110794148	G	A	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001142807:exon5:c.G319A:p.E107K,ACOXL:NM_001365487:exon5:c.G319A:p.E107K,ACOXL:NM_001371254:exon5:c.G319A:p.E107K	.	428	1061	31	2	0	35	0.0162262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	.	0.0031	0.00858626	0.0072	0.0012	0.0054	0.0001	0.0036	0.0048	0.0101	0.0267	0.0067011	1036	154602	rs150003283	0.0057	0.0057	0.0050	0.0064	0.0278	0.0056	0.0056	0.0269	0.0265	0.0010	0.0045	0.0067	0	0.0039	0.0137	0.0044	0.0058	0.0278	0.0046	0.0046	0.0044	0.0047	0.0313	0.0043	0.0042	0.0272	0.0257	0.0009	0.0132	0.0052	0.0037	0.0002	0.0052	0.0204	0.0048	0.0066	0.0313	0.181	0.38633	T	0.997	0.12281	T	0.963	0.55692	D	0.49	0.47330	P	0.017858	0.27622	N	0.269326	0.643766	0.32900	D	0.02	0.07987	N	-3.54	0.94799	D	-1.11	0.28703	N	0.454	0.51137	0.418	0.89363	D	0.620	0.86605	D	10	0.012831628	0.00274	T	.	.	.	0.417	0.72705	.	.	0.759181903428	0.75699	0.4340138023773377	0.43318	0.480607175355	0.47077	0.413700193167	0.26968	T	0.24249	0.61124	T	-0.200347	0.20756	T	-0.0409645	0.67637	D	0.01714679548178	0.00459	T	0.789521	0.45334	T	0.034968484	0.04025	0.05617905	0.09992	0.034968484	0.04025	0.05617905	0.09992	-6.138	0.55811	T	.	.	0.102	0.20235	B	.;.;.	.;.;.	2.961285	0.39439	21.0	0.99908643534056318	0.97875	0.70441	0.34591	D	AEFBI	0.114364	0.22529	N	-0.0346067539696674	0.40293	2.390379	-0.0312167145111858	0.38313	2.255471	0.988516361138336	0.31541	0.719381	0.83141	0	0.610034	0.51514	0	0.723133	0.82415	0	0.530356	0.10902	0	.	.	5.33	3.53	0.39533	2.062000	0.41039	0.634000	0.20256	0.676000	0.76740	0.990000	0.36992	0.084000	0.22431	0.987000	0.62547	0.0824:0.1491:0.7686:0.0	9.015	0.35324	867	0.32089	Acyl-CoA oxidase/dehydrogenase, central 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	0.011581	0.005051	0.013587	0.008772	0.000000	0.008621	0.012195	0.018939	0.05	1073.43	35	chr2	110794148	.	G	A	1073.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.588;DP=392;ExcessHet=0;FS=0.845;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.535;SOR=0.866	GT:AD:DP:GQ:PL	0/1:35,48:83:99:1085,0,735	9	0	1	0
chr2	112165027	112165027	G	A	exonic	FBLN7	.	nonsynonymous SNV	FBLN7:NM_001128165:exon3:c.G262A:p.A88T,FBLN7:NM_153214:exon3:c.G262A:p.A88T	.	.	.	.	.	.	.	.	.	.	.	3669049	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.0155763583968	0.0002	.	3.3e-05	0	8.651e-05	0	0	4.502e-05	0	0	2.59e-05	4	154602	rs375781818	4.378e-05	4.378e-05	5.717e-05	3.025e-05	5.126e-05	3.509e-05	3.193e-05	4.005e-05	3.658e-05	0	4.472e-05	3.826e-05	0	0	0	5.126e-05	4.968e-05	1.16e-05	1.972e-05	2.627e-05	3.856e-05	0	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.318	0.61437	T	0.35	0.20422	T	0.625	0.52202	P	0.129	0.42883	B	0.293300	0.14729	N	0.674841	1	0.08975	N	0.59	0.15444	N	-0.04	0.63240	T	-1.09	0.33197	N	0.2	0.34228	-1.0034	0.28933	T	0.125	0.43028	T	10	0.05860868	0.06918	T	0.015576	0.36391	T	0.092	0.26621	.	.	0.42748209135	0.42367	0.27645307617780973	0.27558	0.280792333993	0.30555	0.257786035538	0.04630	T	0.013256	0.11500	T	-0.380621	0.03088	T	-0.608666	0.12094	T	0.0214180946350098	0.00845	T	0.39816	0.10064	T	0.058361232	0.11731	0.06287207	0.12368	0.058361232	0.11731	0.06287207	0.12368	-5.472	0.41999	T	.	.	0.067	0.07745	B	.;.;.;.	.;.;.;.	0.326405	0.07005	3.564	0.86161657648991352	0.16353	0.10794	0.16197	N	AEFDBI	0.126305	0.24318	N	-0.841898835834521	0.12250	0.5959629	-0.849841589239296	0.13292	0.6886978	0.410430315433419	0.20207	0.516011	0.20929	0	0.547309	0.14657	0	0.577349	0.28860	0	0.567892	0.33627	0	.	.	5.6	1.74	0.23636	0.172000	0.16518	-0.257000	0.10458	-0.975000	0.01921	0.000000	0.06391	0.000000	0.08366	0.421000	0.27250	0.1245:0.4359:0.2938:0.1459	3.202	0.06257	952	0.10565	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2176.43	38	chr2	112165027	.	G	A	2176.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=495;ExcessHet=0;FS=1.155;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.327;SOR=0.805	GT:AD:DP:GQ:PL	0/1:91,92:183:99:2188,0,1923	9	0	1	0
chr2	120222207	120222207	A	G	exonic	TMEM185B	.	nonsynonymous SNV	TMEM185B:NM_024121:exon1:c.T770C:p.L257S	.	429	1092	1	0	0	1	0.000457666	.	.	.	2359380	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.283989469402	.	.	0.0002	0	0	0	0	0.0002	0	0.0003	0.0001358	21	154602	rs753108850	0.0005	0.0005	0.0004	0.0005	0.0011	0.0005	0.0004	0.0005	0.0005	9.486e-05	0.0005	0	0	0.0001	0.0011	0.0005	0.0005	0.0004	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0.0001	0	6.547e-05	0	0	9.414e-05	0	0.0004	0	0.0002	0.039	0.42487	D	0.001	0.83351	D	0.999	0.77913	D	0.981	0.75168	D	.	.	.	.	0.979545	0.25174	N	2.625	0.76847	M	1.14	0.38397	T	-5.26	0.84105	D	0.923	0.92667	.	.	.	.	.	.	.	0.85932124	0.85144	D	0.283989	0.90331	D	.	.	.	.	0.430239905395	0.42638	0.9031471853947273	0.90287	1.01292625865	0.74835	0.692802369595	0.66108	T	0.158189	0.50110	T	0.024465	0.54983	T	0.142304	0.79693	D	.	.	.	0.760924	0.38541	T	0.2642159	0.49488	0.38485286	0.63416	0.2642159	0.49488	0.38485286	0.63416	-5.304	0.39983	T	.	.	0.746	0.74862	P	.	.	4.772888	0.77289	26.7	0.99805859818247111	0.88995	0.91108	0.52876	D	AEDGBCI	0.877312	0.80187	D	.	.	.	.	.	.	0.999999999971871	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.493711	0.08198	1	0.735409	0.98432	0	.	.	3.77	3.77	0.42499	9.164000	0.93909	.	.	-0.122000	0.13826	1.000000	0.71638	0.992000	0.31684	0.383000	0.26402	1.0:0.0:0.0:0.0	11.121	0.47509	788	0.46569	.	.	.	.	.	.	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	0.001044	0.000000	0.001429	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1746.43	34	chr2	120222207	.	A	G	1746.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=465;ExcessHet=0;FS=1.308;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-0.677;SOR=0.553	GT:AD:DP:GQ:PL	0/1:79,70:149:99:1758,0,1945	9	0	1	0
chr2	128179817	128179817	A	G	exonic	UGGT1	.	nonsynonymous SNV	UGGT1:NM_020120:exon35:c.A3847G:p.K1283E	.	436	1074	10	2	0	14	0.00647549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0194581668712	0.0015	0.00159744	0.0017	0.0005	0.0010	0	0.0017	0.0026	0.0011	0.0002	0.0015847	245	154602	rs114284257	0.0018	0.0018	0.0018	0.0018	0.0090	0.0018	0.0017	0.0071	0.0064	0.0003	0.0013	0.0060	0	0.0013	0.0090	0.0020	0.0020	0.0002	0.0013	0.0013	0.0013	0.0013	0.0018	0.0012	0.0011	0.0014	0.0013	0.0005	0	0.0018	0.0046	0	0.0012	0.0102	0.0017	0.0028	0.0002	0.039	0.42487	D	0.058	0.46182	T	0.075	0.24198	B	0.066	0.27432	B	0.000000	0.84330	D	0.090971	0.999777	0.48980	D	2.59	0.75718	M	2.0	0.21473	T	-2.38	0.52451	N	0.288	0.32591	-0.8176	0.54084	T	0.169	0.50907	T	9	0.009828001	0.00221	T	0.019458	0.41828	T	0.079	0.23065	.	.	0.288727942641	0.28479	0.5626569811859852	0.56192	0.764450363023	0.64417	0.742819011211	0.73387	T	0.208924	0.56899	T	-0.391323	0.02638	T	-0.3395	0.40402	T	0.0394233634749624	0.03586	T	0.90391	0.66280	D	0.34250578	0.56478	0.24398246	0.49854	0.34250578	0.56478	0.24398246	0.49853	-7.104	0.54789	T	.	.	0.084	0.09675	B	.	.	3.080762	0.41440	21.4	0.98127191047382278	0.38489	0.87782	0.47440	D	AEFBCI	0.337419	0.43523	N	0.228667214225808	0.52592	3.432458	0.280202604193371	0.54384	3.603607	0.999992089194104	0.74766	0.730579	0.87903	0	0.724815	0.89359	0	0.724815	0.87919	0	0.648885	0.59868	0	.	.	5.72	4.56	0.55644	3.179000	0.50587	6.136000	0.53985	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.7166:0.1408:0.1426:0.0	5.846	0.17917	427	0.81056	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.004076	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1430.43	34	chr2	128179817	.	A	G	1430.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.239;DP=411;ExcessHet=0;FS=2.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=0.471;SOR=0.459	GT:AD:DP:GQ:PL	0/1:38,61:99:99:1442,0,824	9	0	1	0
chr2	130509040	130509040	A	G	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon1:c.T196C:p.C66R,POTEI:NM_001371926:exon2:c.T196C:p.C66R	.	438	1014	22	0	48	70	0.0107317	.	.	.	3886675	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.078	.	.	0.00798722	0.0003	0.0004	0	0	0	0.0006	0	0.0001	0.0015368	40	26028	rs28624496	0.0004	0.0039	0.0004	0.0004	0.0014	0.0004	0.0004	0.0006	0.0005	9.494e-05	0.0004	0.0016	0.0002	0	0.0014	0.0004	0.0008	0.0002	0.0003	0.0083	0.0002	0.0003	0.0009	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0002	0	0	0.0001	0	0.0004	0	0.0009	1.0	0.00964	T	0.895	0.03863	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.11	0.08516	N	-0.97	0.75670	T	-0.07	0.08033	N	0.04	0.03175	-0.8817	0.49625	T	0.180	0.52613	T	6	0.005124539	0.00111	T	.	.	.	0.078	0.22779	.	.	0.188950314367	0.18478	0.0529668963886371	0.05238	.	.	0.501408100128	0.39024	T	0.011428	0.10197	T	-0.42832	0.01517	T	-0.61636	0.11473	T	0.0247650453648866	0.01242	T	0.30147	0.06003	T	0.08477733	0.19637	0.17651471	0.40191	0.08477733	0.19636	0.17651471	0.40190	-6.193	0.47866	T	.	.	0.348	0.56462	A	.;.;.	.;.;.	-0.512607	0.01826	0.145	0.10100012595628233	0.00119	0.00006	0.00120	N	AEFI	0.011642	0.00107	N	-1.8558285140909	0.00423	0.01816932	-2.06035745378489	0.00227	0.01001295	2.42689208294814E-4	0.06141	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	-0.218	0.12495	-1.799000	0.01842	.	.	-2.355000	0.00307	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	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	1	0	.	.	.	.	.	.	.	.	0.1	308.14	41	chr2	130509040	.	A	G	308.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.54;DP=1296;ExcessHet=0.2348;FS=13.374;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=55.31;MQRankSum=-9.023;QD=0.48;ReadPosRankSum=-5.645;SOR=2.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,23:306:99:1|0:130508957_C_A:100,0,11451:130508957	8	0	2	0
chr2	134254543	134254543	G	A	exonic	MGAT5	.	nonsynonymous SNV	MGAT5:NM_002410:exon1:c.G140A:p.R47H,MGAT5:NM_001371457:exon2:c.G140A:p.R47H	.	433	1088	1	0	0	1	0.000459348	.	.	.	2359162	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.460	0.00696360132974	0.0003	.	0.0001	0.0008	8.699e-05	0.0004	0	0	0	6.07e-05	8.41e-05	13	154602	rs141403771	2.736e-05	2.736e-05	2.995e-05	2.475e-05	0.0004	2.062e-05	1.816e-05	0.0002	0.0002	0.0004	8.945e-05	0	5.038e-05	0	0	4.496e-06	0.0001	0.0001	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0001	0	0.0002	0	0	0	0	0	0.003	0.68238	D	0.008	0.67890	D	0.871	0.47859	P	0.276	0.40142	B	0.000011	0.62929	D	0.111000	0.999834	0.49637	D	1.75	0.45442	L	.	.	.	-1.7	0.40468	N	0.21	0.23380	-0.6058	0.64577	T	0.196	0.54985	T	9	0.13885185	0.26405	T	0.006964	0.18430	T	0.460	0.75755	.	.	0.117191471859	0.11215	0.7107250579092655	0.71014	0.72895118267	0.62636	0.573354482651	0.49151	T	0.494739	0.81776	T	-0.233563	0.16181	T	-0.21579	0.53141	T	0.126232311655328	0.15029	T	0.910809	0.68393	D	0.19557323	0.41351	0.21822406	0.46517	0.19557323	0.41351	0.21822406	0.46516	-5.995	0.46238	T	.	.	0.307	0.53625	B	.;.	.;.	5.159086	0.86435	28.9	0.99944912057795821	0.99886	0.85906	0.45094	D	AEFBCI	0.554698	0.56543	D	0.490328444690513	0.66524	4.961261	0.533009677480155	0.70224	5.473889	0.999999993113198	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.88	4.88	0.63131	6.901000	0.75513	11.893000	0.99147	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.568	0.91077	912	0.21483	Domain of unknown function DUF4525;Domain of unknown function DUF4525	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5845.14	34	chr2	134254543	.	G	A	5845.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.91;DP=802;ExcessHet=0.2348;FS=3.194;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.587;SOR=0.792	GT:AD:DP:GQ:PL	0/1:122,127:249:99:2999,0,2745	8	0	2	0
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	939850	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.936609	0.94117	33	0.99349119721063961	0.60493	0.97623	0.75973	D	AEFBI	.	.	.	1.19148709426811	0.99469	22.96786	1.05788045534202	0.99467	22.95182	0.999998626380482	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.989765	0.98485	5.82	5.82	0.92740	5.023000	0.63858	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.870	0.92282	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	411.49	152	chr2	151680729	.	C	T	411.49	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-4.4;DP=854;ExcessHet=0.7463;FS=121.756;InbreedingCoeff=-0.178;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=0.502;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,15:106:78:0|1:151680729_C_T:78,0,2989:151680729	7	0	3	0
chr2	152549066	152549066	C	G	exonic	FMNL2	.	nonsynonymous SNV	FMNL2:NM_052905:exon4:c.C328G:p.L110V	.	435	1064	21	2	0	25	0.0116117	.	.	.	707771	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.847	0.0943620572758	0.0015	0.00139776	0.0021	0.0006	0.0011	0	0.0027	0.0028	0	0.0012	0.0016882	261	154602	rs189416564	0.0017	0.0017	0.0016	0.0017	0.0030	0.0016	0.0016	0.0019	0.0017	0.0002	0.0007	0.0001	0	0.0024	0.0030	0.0018	0.0014	0.0017	0.0016	0.0016	0.0018	0.0014	0.0025	0.0014	0.0014	0.0022	0.0021	0.0004	0	0.0017	0.0003	0	0.0015	0	0.0025	0.0024	0.0012	0.002	0.72154	D	0.003	0.76473	D	0.974	0.57829	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.545	0.93219	H	-3.86	0.95891	D	-2.29	0.50992	N	0.749	0.74826	0.897	0.95634	D	0.922	0.97419	D	10	0.06383386	0.08377	T	0.094362	0.76238	D	0.847	0.95249	.	.	0.894785773462	0.89374	0.6470445445867951	0.64639	0.939401441635	0.72160	0.800921201706	0.82103	T	.	.	.	0.158796	0.70090	D	0.451959	0.93625	D	0.113035874637148	0.13735	T	0.995467	0.98429	D	.	.	.	.	.	.	.	.	-8.341	0.63371	D	.	.	0.567	0.67513	P	.	.	4.217291	0.63767	24.6	0.99862500244582941	0.94093	0.97341	0.74138	D	AEFDGBIJ	0.630492	0.61182	D	0.91462230342868	0.92457	11.43442	0.873322540739809	0.94303	12.65601	1.0	0.98316	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	5.86	5.86	0.93936	4.487000	0.60022	5.884000	0.50679	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.158	0.98126	262	0.89730	.	.	.	.	.	.	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	0.002520	0.005051	0.002717	0.000000	0.000000	0.000000	0.009146	0.003788	0.1	911.14	34	chr2	152549066	.	C	G	911.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.234;DP=397;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=1.65;SOR=0.756	GT:AD:DP:GQ:PL	0/1:26,23:49:99:473,0,591	8	0	2	0
chr2	159766895	159766895	T	C	exonic	MARCHF7	.	nonsynonymous SNV	MARCHF7:NM_001376243:exon10:c.T2060C:p.V687A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	37.37	1	chr2	159766895	.	T	C	37.37	.	AC=2;AF=0.143;AN=14;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=18.69;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	3
chr2	167249020	167249020	C	T	exonic	XIRP2	.	nonsynonymous SNV	XIRP2:NM_001199144:exon7:c.C6962T:p.P2321L,XIRP2:NM_152381:exon9:c.C7628T:p.P2543L	.	436	1085	1	0	0	1	0.000460617	.	.	.	774616	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.366	.	.	0.00219649	0.0013	0	0	0	0	0	0.0011	0.0094	0.0011255	174	154602	rs373000528	0.0006	0.0006	0.0003	0.0008	0.0090	0.0005	0.0005	0.0085	0.0083	0	2.261e-05	0	0	0	0.0010	1.8e-06	0.0005	0.0090	0.0003	0.0003	0.0001	0.0005	0.0091	0.0002	0.0002	0.0070	0.0062	0	0	0	0	0	0	0	0	0	0.0091	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.33	0.66821	M	2.22	0.18875	T	-5.92	0.88963	D	0.857	0.85554	-0.9500	0.40972	T	0.154	0.48498	T	10	0.00958845	0.00216	T	.	.	.	0.366	0.68582	0.313	0.28774	0.296329037015	0.29243	0.4773633663436964	0.47656	0.163564079484	0.18441	0.684622168541	0.64933	T	0.497907	0.81958	T	-0.106543	0.35339	T	0.0808623	0.75636	D	0.115996579400991	0.14034	T	0.90081	0.66396	D	0.46480623	0.64970	0.36231536	0.61639	0.46480623	0.64970	0.36231536	0.61639	-8.076	0.61587	D	.	.	0.907	0.83224	P	.;.;.	.;.;.	4.645149	0.73984	26.1	0.99904071638290592	0.97502	0.98656	0.85210	D	AEFBI	0.798901	0.72532	D	0.86801339950273	0.90109	10.25658	0.866012137804217	0.93916	12.371	0.999999999955278	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.97	5.97	0.96935	6.932000	0.75683	7.686000	0.65553	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.195	0.93673	604	0.67577	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	782.43	79	chr2	167249020	.	C	T	782.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.67;DP=506;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.904;SOR=0.671	GT:AD:DP:GQ:PL	0/1:47,31:78:99:794,0,1182	9	0	1	0
chr2	171966438	171966438	C	T	exonic	HAT1	.	nonsynonymous SNV	HAT1:NM_003642:exon7:c.C641T:p.T214M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0231624257669	7.7e-05	.	8.242e-05	9.615e-05	0	0	0	2.998e-05	0	0.0004	6.47e-05	10	154602	rs375753557	5.61e-05	5.747e-05	3.451e-05	7.784e-05	0.0007	4.6e-05	4.207e-05	0.0006	0.0005	0	0	0	2.524e-05	0	0.0003	1.278e-05	5.02e-05	0.0007	3.286e-05	3.283e-05	1.285e-05	5.38e-05	0.0006	1.261e-05	7.98e-06	0.0002	8.977e-05	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0.0006	0.216	0.19225	T	0.221	0.25827	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-2.28	0.50830	N	0.763	0.76111	-0.1963	0.77767	T	0.387	0.74217	T	9	0.48745206	0.60793	T	0.023162	0.46105	T	0.160	0.41473	.	.	0.564004061608	0.56063	0.6856347151033242	0.68503	0.931458184894	0.71834	0.777150154114	0.78499	T	.	.	.	-0.224184	0.17427	T	-0.203424	0.54322	T	0.549234628677368	0.34449	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.12891	B	.	.	6.374914	0.95105	34	0.99820254891654925	0.90326	0.98335	0.81744	D	AEFBI	0.928578	0.91300	D	0.718365987096201	0.80834	7.38347	0.709872878300226	0.83128	7.941247	0.999999991508476	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	5.05	0.67566	7.905000	0.86479	7.728000	0.67649	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9329:0.0:0.0671	15.314	0.73767	495	0.76383	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1429.43	34	chr2	171966438	.	C	T	1429.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.008;DP=436;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.866;SOR=0.733	GT:AD:DP:GQ:PL	0/1:56,66:122:99:1441,0,1154	9	0	1	0
chr2	172472890	172472890	G	A	exonic	ITGA6	.	nonsynonymous SNV	ITGA6:NM_001316306:exon5:c.G418A:p.G140S	Epidermolysis bullosa, junctional, with pyloric stenosis, Autosomal recessive	9	1496	17	0	0	17	0.00564972	0.9830	0.826	.	3217787	ITGA6-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.733	.	0.0024	0.013778	0.0105	0.0066	0.0101	0.0349	0	0.0005	0.0081	0.0433	0.0088744	1372	154602	rs74728869	0.0045	0.0044	0.0033	0.0056	0.0428	0.0044	0.0043	0.0417	0.0412	0.0073	0.0089	0.0054	0.0369	7.651e-05	0.0032	0.0001	0.0054	0.0428	0.0052	0.0052	0.0043	0.0062	0.0398	0.0049	0.0048	0.0352	0.0335	0.0074	0	0.0044	0.0058	0.0359	0	0.0034	0.0001	0.0052	0.0398	0.002	0.72154	D	0.011	0.64786	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.61	0.53516	T	-5.59	0.87760	D	0.817	0.91736	-0.5395	0.67182	T	0.159	0.49279	T	9	0.01030463	0.00230	T	0.148491	0.83040	D	0.733	0.90677	.	.	.	.	.	.	.	.	.	.	.	0.710074	0.91723	D	-0.0414729	0.45731	T	0.199067	0.83076	D	0.0785549693892789	0.09801	T	0.998091	0.99218	D	0.4176576	0.61936	0.44403628	0.67599	0.3356971	0.55934	0.44403628	0.67600	-12.317	0.86440	D	.	.	0.968	0.91905	P	.;.;.	.;.;.	3.455048	0.48129	22.6	0.99873236147270605	0.95076	0.99159	0.92098	D	AEFDBI	0.925838	0.90600	D	0.800498332863108	0.86136	8.789886	0.813540585513909	0.90720	10.53671	0.999999999999999	0.74766	0.562547	0.31514	0	0.610034	0.51514	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	5.67	5.67	0.87673	9.247000	0.94616	11.853000	0.98135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.762	0.96317	752	0.51611	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	1703.14	36	chr2	172472890	.	G	A	1703.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.684;DP=399;ExcessHet=0.2348;FS=3.553;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=2.04;SOR=1.074	GT:AD:DP:GQ:PL	0/1:18,33:51:99:879,0,386	8	0	2	0
chr2	178450414	178450414	-	AAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	exonic	PRKRA	.	stopgain	PRKRA:NM_001139517:exon1:c.29_30insAGCCGTCCCTTCTCGCCCTGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAGTGGGACCTT:p.C10*	Dystonia 16, Autosomal recessive	1	1390	34	0	97	131	0.0120824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.942e-05	4.241e-05	3.131e-05	2.751e-05	5.397e-06	2.217e-05	1.97e-05	1.94e-06	1.28e-06	0	0	3.826e-05	0	0.0007	0	5.397e-06	1.656e-05	0	0.0020	0.0032	0.0019	0.0020	0.0029	0.0018	0.0017	0.0018	0.0015	0.0019	0.0044	0.0024	0.0020	0.0015	0.0023	0	0.0018	0.0033	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	6475.1	35	chr2	178450414	.	G	GAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	6475.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.51;DP=861;ExcessHet=0.2348;FS=1.231;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-5.222;SOR=0.838	GT:AD:DP:GQ:PL	0/1:156,57:213:99:1903,0,6341	8	0	2	0
chr2	178741088	178741088	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon45:c.C11056T:p.P3686S,TTN:NM_001256850:exon46:c.C11194T:p.P3732S,TTN:NM_133432:exon46:c.C11431T:p.P3811S,TTN:NM_133437:exon46:c.C11632T:p.P3878S,TTN:NM_001267550:exon48:c.C12145T:p.P4049S	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	1512	10	0	0	10	0.00329598	.	.	.	56981	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided|Cardiovascular_phenotype|TTN-related_disorder|Cardiomyopathy	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736|.|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.065	0.0149335683668	8.4e-05	.	0.0005	0	0.0002	0	0	0.0007	0.0022	0.0006	0.0004204	65	154602	rs201888760	0.0003	0.0003	0.0003	0.0003	0.0045	0.0003	0.0003	0.0032	0.0027	0.0001	0.0002	0.0012	0	0	0.0045	0.0003	0.0004	0.0005	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	9.899e-05	0.0001	0	6.537e-05	0.0009	0	0	0.0034	0.0002	0.0005	0.0006	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.23	0.63911	T	-3.11	0.64019	D	0.042	0.01498	-1.0070	0.27850	T	0.103	0.38044	T	9	0.0190306	0.00420	T	0.014934	0.35361	T	0.065	0.18881	.	.	0.0401082797425	0.02173	.	.	0.084161567983	0.09491	0.229907780886	0.01961	T	.	.	.	-0.410272	0.01979	T	-0.486555	0.23753	T	0.0187788790659381	0.00590	T	0.776822	0.43364	T	.	.	.	.	.	.	.	.	-3.086	0.11136	T	.	.	0.078	0.07036	B	.;.;.;.;.;.	.;.;.;.;.;.	0.133103	0.05285	1.780	0.67186882369169798	0.08280	0.06421	0.12426	N	AEFBI	0.143015	0.26561	N	-1.09185619617507	0.06792	0.3136976	-1.10274218165064	0.07648	0.3728313	0.744793434391157	0.23268	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	-0.66	0.10847	0.258000	0.18156	.	.	-0.775000	0.03392	0.002000	0.15269	0.002000	0.18203	0.040000	0.14268	0.0635:0.2077:0.2756:0.4532	5.038	0.13787	341	0.85936	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	3181.12	33	chr2	178741088	.	G	A	3181.12	.	AC=2;AF=0.1;AN=20;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.01;SOR=0.77	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3204,318,0	9	1	0	0
chr2	183079012	183079012	A	T	exonic	DUSP19	.	nonsynonymous SNV	DUSP19:NM_001142314:exon1:c.A79T:p.T27S,DUSP19:NM_001321519:exon1:c.A79T:p.T27S,DUSP19:NM_080876:exon1:c.A79T:p.T27S	.	424	1097	1	0	0	1	0.000455581	.	.	.	2379486	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00632232325916	.	.	2.474e-05	0	8.694e-05	0	0	2.998e-05	0	0	1.94e-05	3	154602	rs780268966	1.3e-05	1.3e-05	1.225e-05	1.375e-05	0.0003	8.31e-06	6.7e-06	6.092e-05	2.521e-05	0	4.473e-05	0	0	0	0.0003	1.079e-05	4.967e-05	0	6.57e-06	6.567e-06	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.555	0.06482	T	0.607	0.07766	T	0.002	0.09854	B	0.01	0.14941	B	0.000059	0.53742	N	0.198495	0.963927	0.38376	D	0.94	0.23649	L	2.55	0.13795	T	-0.55	0.16799	N	0.067	0.04790	-1.0257	0.21853	T	0.015	0.06042	T	10	0.06825876	0.09628	T	0.006322	0.16610	T	0.071	0.20720	0.47	0.54376	0.263140351381	0.25927	0.448569413987124	0.44774	0.0567399249057	0.06275	0.52884554863	0.42871	T	0.008974	0.08204	T	-0.275719	0.11127	T	-0.550962	0.17234	T	0.471237272024155	0.31576	T	0.629737	0.24556	T	0.104672015	0.24745	0.119779356	0.28908	0.104672015	0.24744	0.119779356	0.28907	-2.876	0.08906	T	.	.	0.105	0.19357	B	.;.	.;.	2.277863	0.29126	18.02	0.93972228465862873	0.24048	0.91280	0.53216	D	ALL	0.392689	0.47064	N	-0.381059424360241	0.26144	1.424612	-0.110639813086751	0.34960	2.016991	0.99999999645233	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.003489	0.00041	3	.	.	6.17	5.01	0.66477	5.272000	0.65369	6.114000	0.53700	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.7422:0.0:0.0:0.2578	10.565	0.44357	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	.	.	.	.	.	.	.	.	0.05	1131.43	34	chr2	183079012	.	A	T	1131.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.459;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.53;SOR=0.737	GT:AD:DP:GQ:PL	0/1:49,48:97:99:1143,0,1151	9	0	1	0
chr2	189741426	189741426	A	C	exonic	ANKAR	.	nonsynonymous SNV	ANKAR:NM_001378068:exon20:c.A3785C:p.Y1262S,ANKAR:NM_144708:exon20:c.A3785C:p.Y1262S	.	444	1055	22	1	0	24	0.0112465	.	.	.	707904	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.127	.	0.0078	0.00439297	0.0070	0.0021	0.0044	0	0.0023	0.0109	0.0099	0.0018	0.0074773	1156	154602	rs143926631	0.0099	0.0100	0.0101	0.0098	0.0230	0.0098	0.0097	0.0198	0.0186	0.0027	0.0058	0.0081	5.068e-05	0.0031	0.0230	0.0116	0.0096	0.0018	0.0071	0.0071	0.0075	0.0067	0.0113	0.0068	0.0066	0.0106	0.0103	0.0021	0.0055	0.0088	0.0084	0	0.0019	0.0340	0.0113	0.0090	0.0021	0.612	0.05436	T	0.651	0.06713	T	.	.	.	.	.	.	0.019954	0.27146	N	0.313544	1	0.81001	D	2.655	0.77738	M	3.73	0.03982	T	0.17	0.05125	N	0.648	0.66101	-0.9175	0.45891	T	0.005	0.01578	T	10	0.009049147	0.00205	T	.	.	.	0.127	0.34888	.	.	0.419335720491	0.41547	0.44147656006059033	0.44064	0.148297270919	0.16722	0.397342652082	0.24699	T	0.003414	0.02819	T	-0.458074	0.01011	T	-0.419092	0.31179	T	0.0180010151183526	0.00525	T	0.568143	0.20156	T	0.0770036	0.17449	0.068892315	0.14444	0.0770036	0.17449	0.068892315	0.14444	-2.038	0.03327	T	.	.	0.191	0.41402	B	.;.	.;.	2.820017	0.37150	20.4	0.82916808961816912	0.14444	0.73755	0.36076	D	AEFI	0.155171	0.28033	N	-0.433153679071796	0.24314	1.312013	-0.276640075916563	0.28870	1.613011	4.38987345290045E-4	0.06970	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.69	3.15	0.35301	2.320000	0.43456	5.044000	0.46937	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.7233:0.1414:0.0:0.1353	7.978	0.29330	789	0.46346	.;.	PMS1|ORMDL1|PMS1	Brain_Cerebellum|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg	.	.	rs143926631	Likely benign	0	0	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	0.000000	0.013587	0.046784	0.000000	0.017241	0.006098	0.007576	0.05	357.43	33	chr2	189741426	.	A	C	357.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=325;ExcessHet=0;FS=1.485;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=1.05;SOR=1.11	GT:AD:DP:GQ:PL	0/1:14,15:29:99:369,0,290	9	0	1	0
chr2	195884779	195884779	C	T	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon35:c.G5569A:p.V1857I	.	466	1041	14	1	0	16	0.00762631	.	.	.	697221	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.053	.	0.0003	0.0105831	0.0087	0.0006	0.0004	0.0002	0	9.044e-05	0.0078	0.0619	0.0073479	1136	154602	rs371128668	0.0038	0.0038	0.0021	0.0056	0.0609	0.0037	0.0037	0.0595	0.0589	0.0006	0.0001	0	7.562e-05	0	0.0020	6.836e-05	0.0038	0.0609	0.0021	0.0021	0.0012	0.0030	0.0597	0.0019	0.0018	0.0540	0.0518	0.0005	0	6.538e-05	0	0.0002	0	0	8.819e-05	0.0024	0.0597	0.901	0.02418	T	.	.	.	0.001	0.07471	B	0.001	0.04355	B	0.298933	0.14633	N	0.643829	1	0.08975	N	0.615	0.15706	N	1.66	0.27486	T	0.38	0.03579	N	0.068	0.04072	-0.9412	0.42426	T	0.034	0.14509	T	10	0.0023809373	0.00035	T	.	.	.	0.053	0.14996	.	.	0.0611884634855	0.05136	0.12021172524814233	0.11948	0.0265718611152	0.02714	0.218964636326	0.01251	T	0.007498	0.06902	T	-0.725743	0.00025	T	-0.770465	0.02753	T	0.0032411841348805	0.00034	T	0.564843	0.19943	T	0.02675629	0.01773	0.0422598	0.04993	0.02675629	0.01773	0.0422598	0.04993	-3.478	0.16125	T	.	.	0.074	0.05231	B	.	.	-1.431889	0.00338	0.006	0.66783061910713892	0.08160	0.03804	0.09135	N	AEFBI	0.060745	0.11567	N	-1.93493193972938	0.00291	0.01247354	-1.97655368522526	0.00343	0.01514999	0.936005352861705	0.27236	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.73	-11.5	0.00057	-1.135000	0.03337	-12.599000	0.00513	-2.821000	0.00180	0.000000	0.06391	0.000000	0.08366	0.904000	0.43992	0.0:0.8015:0.0744:0.1241	18.906	0.92436	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	1	0	1	0	0.007049	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.034091	0.05	572.43	35	chr2	195884779	.	C	T	572.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.213;DP=366;ExcessHet=0;FS=2.687;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-1.496;SOR=0.361	GT:AD:DP:GQ:PL	0/1:22,24:46:99:584,0,492	9	0	1	0
chr2	205743409	205743409	G	A	exonic	NRP2	.	nonsynonymous SNV	NRP2:NM_003872:exon9:c.G1498A:p.G500S,NRP2:NM_018534:exon9:c.G1498A:p.G500S,NRP2:NM_201264:exon9:c.G1498A:p.G500S,NRP2:NM_201266:exon9:c.G1498A:p.G500S,NRP2:NM_201267:exon9:c.G1498A:p.G500S,NRP2:NM_201279:exon9:c.G1498A:p.G500S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.793	0.50506249899	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs745533260	4.788e-06	4.788e-06	4.084e-06	5.5e-06	1.159e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	1.159e-05	1.314e-05	1.313e-05	2.568e-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	0.015	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	1	0.81001	D	2.51	0.73131	M	-5.58	0.99210	D	-5.15	0.83357	D	0.957	0.97317	1.094	0.99408	D	0.980	0.99369	D	10	0.962819	0.95714	D	0.505062	0.95213	D	0.793	0.93188	0.75	0.88071	0.990142331674	0.99003	0.7896376435964291	0.78915	0.541343025859	0.51294	0.64315533638	0.59013	T	0.767173	0.93739	D	0.499305	0.94271	D	0.479441	0.94192	D	0.942790077658008	0.61731	D	0.998172	0.99209	D	0.6647794	0.76154	0.45738393	0.68467	0.6647794	0.76155	0.45738393	0.68467	-9.193	0.69089	D	.	.	0.407	0.65859	A	.;.;.;.;.;.	.;.;.;.;.;.	4.742069	0.76480	26.5	0.9979930544171508	0.88461	0.99432	0.95955	D	AEFDBI	0.938121	0.93686	D	0.769827470940052	0.84189	8.218887	0.697750132233972	0.82206	7.710477	1.0	0.98316	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	5.96	0.96695	9.922000	0.98774	11.918000	0.99752	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.373000	0.26178	0.0:0.0:1.0:0.0	20.393	0.98950	803	0.44167	Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	753.43	47	chr2	205743409	.	G	A	753.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.672;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.133;SOR=0.756	GT:AD:DP:GQ:PL	0/1:38,31:69:99:765,0,937	9	0	1	0
chr2	210656609	210656609	A	G	exonic	CPS1	.	nonsynonymous SNV	CPS1:NM_001875:exon30:c.A3643G:p.I1215V,CPS1:NM_001122633:exon31:c.A3643G:p.I1215V,CPS1:NM_001369256:exon31:c.A3676G:p.I1226V,CPS1:NM_001369257:exon32:c.A3643G:p.I1215V	Carbamoylphosphate synthetase I deficiency, Autosomal recessive	1	1513	8	0	0	8	0.00263678	.	.	.	237339	Congenital_hyperammonemia,_type_I|Pulmonary_hypertension,_neonatal,_susceptibility_to|not_provided|not_specified	MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147|MONDO:MONDO:0014151,MedGen:C3714958,OMIM:615371|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.696	0.026614360004	0.0010	0.000199681	0.0015	0.0002	0.0027	0	0	0.0021	0.0022	0.0004	0.0014359	222	154602	rs141373204	0.0011	0.0011	0.0011	0.0012	0.0111	0.0011	0.0010	0.0089	0.0081	0.0002	0.0017	0.0147	2.519e-05	0	0.0111	0.0008	0.0029	0.0006	0.0013	0.0012	0.0014	0.0011	0.0024	0.0011	0.0011	0.0017	0.0015	0.0001	0	0.0024	0.0171	0	0	0.0315	0.0009	0.0039	0.0017	0.012	0.54683	D	0.017	0.60972	D	0.619	0.39896	P	0.354	0.42942	B	0.000000	0.84330	N	0.046659	0.999316	0.46639	D	1.295	0.32453	L	-4.28	0.97126	D	-0.81	0.22294	N	0.281	0.31814	0.729	0.93531	D	0.844	0.94781	D	10	0.0088790655	0.00201	T	0.026614	0.49512	D	0.696	0.89007	.	.	0.852499549851	0.85108	0.7071783142122061	0.70659	0.202042824549	0.22620	0.478276997805	0.35819	T	0.671407	0.90251	D	-0.0158437	0.49444	T	0.191235	0.82640	D	0.0179974770087154	0.00524	T	0.779122	0.41282	T	0.57867557	0.71536	0.34298837	0.60017	0.63356006	0.74489	0.35052237	0.60660	-4.053	0.25157	T	0.1860674942653916	0.24202	0.112	0.26325	B	.;.;.	.;.;.	2.068265	0.26303	17.07	0.99799060945873042	0.88372	0.92144	0.55042	D	AEFBCI	0.943246	0.94884	D	0.284734331515722	0.55374	3.701525	0.375728509551874	0.60071	4.19087	0.720234988366096	0.22923	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	6.08	4.94	0.64645	5.815000	0.68892	2.068000	0.30429	0.665000	0.62972	1.000000	0.71638	0.774000	0.26724	0.996000	0.76049	0.9211:0.0:0.0789:0.0	10.605	0.44578	427	0.81056	.;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold;.	.	.	.	.	.	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	0.011078	0.020202	0.013587	0.017544	0.000000	0.017241	0.000000	0.003788	0.1	957.14	34	chr2	210656609	.	A	G	957.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.22;DP=437;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=0.113;SOR=0.632	GT:AD:DP:GQ:PL	0/1:28,18:46:99:369,0,684	8	0	2	0
chr2	216132386	216132386	A	G	exonic	XRCC5	.	nonsynonymous SNV	XRCC5:NM_021141:exon10:c.A1112G:p.E371G	.	.	.	.	.	.	.	.	0.9988	0.976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.0450355125081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1235354373	2.053e-06	2.052e-06	4.084e-06	0	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.991	0.64070	D	0.796	0.58006	P	0.000002	0.62929	D	0.101706	1	0.81001	D	2.705	0.79137	M	1.48	0.31731	T	-4.37	0.77061	D	0.313	0.35301	-0.9439	0.41992	T	0.154	0.48430	T	10	0.57306546	0.65427	D	0.045036	0.61784	D	0.325	0.64725	0.702	0.83869	0.147330786459	0.14319	0.8487746657473858	0.84839	1.94977245804	0.93369	0.44680917263	0.31508	T	0.445637	0.78858	T	0.0889931	0.63076	D	-0.109944	0.62616	T	0.9771848320961	0.71724	D	0.911209	0.68535	D	0.35918102	0.57773	0.6848158	0.81469	0.35918102	0.57773	0.6848158	0.81470	-7.208	0.55539	T	.	.	0.190	0.40889	B	.;.	.;.	5.437717	0.90896	32	0.99900978113088856	0.97275	0.99572	0.97574	D	AEFBI	0.938402	0.93753	D	0.677750196976354	0.78175	6.818816	0.69590913279349	0.82065	7.676352	0.999999996331445	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.01	6.01	0.97420	7.028000	0.76204	7.942000	0.75525	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	15.705	0.77329	872	0.31118	Ku70/Ku80 beta-barrel domain|Ku70/Ku80 beta-barrel domain;Ku70/Ku80 beta-barrel domain|Ku70/Ku80 beta-barrel 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	.	.	.	.	.	.	.	.	0.05	1214.43	33	chr2	216132386	.	A	G	1214.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.698;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.153;SOR=0.703	GT:AD:DP:GQ:PL	0/1:53,51:104:99:1226,0,1250	9	0	1	0
chr2	218873448	218873448	G	A	exonic	WNT6	.	nonsynonymous SNV	WNT6:NM_006522:exon4:c.G701A:p.R234H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.159742593454	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1051611538	4.329e-06	1.163e-05	2.849e-06	5.847e-06	1.263e-05	1.56e-06	1.02e-06	.	.	0	0	0	0	0	0	9.271e-07	6.912e-05	1.263e-05	6.569e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.003	0.68238	D	0.005	0.72224	D	0.998	0.73220	D	0.88	0.62516	P	0.000000	0.84330	D	0.000000	0.999977	0.53665	D	3.215	0.89331	M	-1.11	0.77466	T	-3.35	0.66436	D	0.316	0.35620	0.412	0.89276	D	0.630	0.87037	D	10	0.67137605	0.70733	D	0.159743	0.83988	D	0.686	0.88538	0.735	0.86806	0.800195990328	0.79833	0.8638787363467423	0.86351	1.75436928323	0.91029	0.756990551949	0.75482	T	0.927668	0.98753	D	0.135	0.67836	D	-0.0440025	0.67430	D	0.979058444499969	0.72635	D	0.959204	0.84623	D	0.84410626	0.86903	0.81213796	0.89036	0.84410626	0.86904	0.81213796	0.89037	-8.501	0.64436	D	.	.	0.171	0.37633	B	.	.	4.658347	0.74329	26.1	0.99927543769462235	0.99163	0.94367	0.60939	D	AEFDBCI	0.788527	0.71798	D	0.599413533871733	0.73140	5.917426	0.482488323348933	0.66832	5.003445	0.999997893648767	0.74766	0.59774	0.34471	0	0.541168	0.11318	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.32	3.43	0.38372	5.843000	0.69141	11.783000	0.96163	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.1598:0.8402:0.0	13.325	0.59891	819	0.41190	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	862.43	34	chr2	218873448	.	G	A	862.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.077;DP=398;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-1.233;SOR=0.7	GT:AD:DP:GQ:PL	0/1:41,39:80:99:874,0,876	9	0	1	0
chr2	219019115	219019115	A	G	exonic	CFAP65	.	nonsynonymous SNV	CFAP65:NM_194302:exon21:c.T3538C:p.F1180L	.	419	1092	11	0	0	11	0.00501139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	7.7e-05	0.00379393	0.0019	9.686e-05	0	0	0	0.0004	0	0.0127	0.0016947	262	154602	rs200240886	0.0009	0.0009	0.0006	0.0012	0.0124	0.0009	0.0009	0.0118	0.0116	8.961e-05	0.0002	0	5.038e-05	0	0.0010	0.0002	0.0009	0.0124	0.0005	0.0005	0.0003	0.0007	0.0114	0.0004	0.0004	0.0090	0.0081	0.0001	0	0	0	0	0	0.0034	0.0001	0.0005	0.0114	1.0	0.00964	T	0.13	0.34716	T	0.0	0.02946	B	0.001	0.04355	B	0.636617	0.10637	N	0.780131	1	0.08975	N	.	.	.	3.85	0.03650	T	1.49	0.00747	N	0.087	0.06990	-0.9051	0.47435	T	0.004	0.01330	T	10	0.0023660064	0.00035	T	.	.	.	0.020	0.03691	0.324	0.30549	0.0482279557977	0.04254	0.21909707568502704	0.21825	0.0819108232892	0.09225	0.2797935009	0.07463	T	0.017183	0.14063	T	-0.696358	0.00038	T	-0.762658	0.03018	T	0.0028994434523209	0.00030	T	0.530647	0.17608	T	0.05237244	0.09758	0.039958626	0.04210	0.05237244	0.09758	0.039958626	0.04210	-2.964	0.09799	T	.	.	0.229	0.46203	B	.;.	.;.	0.449364	0.08196	4.931	0.7305165401260727	0.10189	0.01396	0.04737	N	AEFBI	0.041388	0.06286	N	-1.23443329214604	0.04509	0.2036408	-1.19720465692996	0.05957	0.2853073	0.0343703151130727	0.14151	0.487112	0.14033	0	0.59043	0.45803	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	4.68	-2.79	0.05494	-1.051000	0.03618	-0.437000	0.09184	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.986000	0.61781	0.0996:0.266:0.1561:0.4783	2.585	0.04536	599	0.68140	.;.	.	.	.	.	.	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	0.003021	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.05	1258.43	36	chr2	219019115	.	A	G	1258.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.406;DP=422;ExcessHet=0;FS=0.731;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=1.22;SOR=0.829	GT:AD:DP:GQ:PL	0/1:55,52:107:99:1270,0,1338	9	0	1	0
chr2	222930780	222930780	A	C	exonic	ACSL3	.	nonsynonymous SNV	ACSL3:NM_001354159:exon12:c.A1700C:p.E567A,ACSL3:NM_001354158:exon13:c.A1700C:p.E567A,ACSL3:NM_203372:exon13:c.A1700C:p.E567A,ACSL3:NM_004457:exon14:c.A1700C:p.E567A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.642	0.104268714219	.	.	8.25e-06	0	8.639e-05	0	0	0	0	0	6.5e-06	1	154602	rs757449241	1.372e-06	1.368e-06	0	2.758e-06	2.303e-05	2.3e-07	9e-08	.	.	0	2.303e-05	0	0	0	0	0	0	1.167e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.22	0.89398	M	1.01	0.41058	T	-4.91	0.81595	D	0.869	0.86618	-0.2478	0.76419	T	0.402	0.75302	T	10	0.86908585	0.86166	D	0.104269	0.77875	D	0.642	0.86384	0.61	0.74300	0.630264946721	0.62724	0.6808237766714985	0.68021	0.846141406368	0.68311	0.754236936569	0.75072	T	0.166296	0.51247	T	0.246088	0.78233	D	0.205443	0.83425	D	0.981701947576836	0.74064	D	0.986701	0.95453	D	0.83353674	0.86150	0.79094845	0.87705	0.83353674	0.86152	0.79094845	0.87705	-8.33	0.63297	D	.	.	0.285	0.53808	B	.;.	.;.	5.078616	0.84746	28.4	0.99562525605435248	0.71892	0.99264	0.93649	D	AEFBI	0.937494	0.93535	D	0.55537790625924	0.70409	5.49744	0.613856746261492	0.75945	6.401254	0.999999959323951	0.74766	0.741868	0.97996	0	0.743671	0.97443	0	0.743671	0.96076	0	0.662026	0.63922	0	.	.	5.74	5.74	0.90070	9.325000	0.96006	11.139000	0.87016	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.033	0.80399	955	0.09969	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	.	.	.	.	.	.	.	.	0.05	473.43	34	chr2	222930780	.	A	C	473.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.686;DP=360;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-0.737;SOR=0.551	GT:AD:DP:GQ:PL	0/1:24,22:46:99:485,0,525	9	0	1	0
chr2	227363746	227363746	T	G	exonic	TM4SF20	.	nonsynonymous SNV	TM4SF20:NM_024795:exon4:c.A668C:p.K223T	.	433	1043	44	2	0	48	0.022493	.	.	.	1602291	not_provided|TM4SF20-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.120	.	0.0035	0.00539137	0.0076	0.0010	0.0016	0	0.0003	0.0062	0.0088	0.0281	0.0068757	1063	154602	rs137891000	0.0063	0.0063	0.0057	0.0070	0.0280	0.0062	0.0062	0.0271	0.0267	0.0011	0.0029	0.0329	2.519e-05	0.0006	0.0245	0.0046	0.0083	0.0280	0.0046	0.0046	0.0040	0.0052	0.0246	0.0043	0.0042	0.0210	0.0197	0.0007	0	0.0065	0.0354	0	0.0003	0.0136	0.0045	0.0057	0.0246	0.075	0.34444	T	0.032	0.53426	D	0.954	0.54400	P	0.812	0.58704	P	0.180637	0.17112	N	0.601254	1	0.08975	N	2.11	0.58565	M	1.53	0.30401	T	-2.04	0.46842	N	0.177	0.19055	-1.0304	0.20325	T	0.085	0.33269	T	10	0.0039727986	0.00077	T	.	.	.	0.120	0.33359	.	.	0.379881503574	0.37595	0.1257288560982809	0.12498	0.0415005756908	0.04460	0.282254904509	0.07809	T	0.007505	0.06912	T	-0.525279	0.00410	T	-0.506354	0.21690	T	0.0176095059824936	0.00494	T	0.588241	0.21547	T	0.086876065	0.20208	0.092055134	0.21675	0.08487282	0.19664	0.092055134	0.21674	-4.551	0.31550	T	.	.	0.184	0.39865	B	.	.	1.267217	0.16655	12.68	0.99460746838078851	0.65788	0.08078	0.14050	N	AEFBHCI	0.099348	0.20000	N	-0.236041235446511	0.31664	1.777796	-0.409087295706952	0.24730	1.355901	0.999957532355736	0.48110	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.62	1.98	0.25351	-0.109000	0.10810	0.259000	0.16521	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.836000	0.39433	0.0:0.2599:0.0:0.7401	7.081	0.24410	925	0.17918	.	.	.	.	.	.	Likely benign	0	0	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	0.017623	0.010101	0.012228	0.032164	0.050000	0.000000	0.003049	0.030303	0.05	1049.43	33	chr2	227363746	.	T	G	1049.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.482;DP=412;ExcessHet=0;FS=1.673;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.288;SOR=0.891	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1061,0,1177	9	0	1	0
chr2	229591816	229591816	C	T	exonic	DNER	.	nonsynonymous SNV	DNER:NM_139072:exon2:c.G349A:p.D117N	.	415	1099	1	0	7	8	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.240382747405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	3.42e-06	1.363e-06	5.51e-06	2.992e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.992e-05	0	0	0	0	0	2.701e-06	1.659e-05	0	6.587e-06	6.572e-06	0	1.349e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	1.0	0.00964	T	0.022	0.57587	D	0.017	0.17573	B	0.003	0.08700	B	0.164714	0.17554	N	0.628659	0.976235	0.39258	D	-0.04	0.05001	N	-2.25	0.87272	D	-0.57	0.17210	N	0.181	0.19593	-0.6581	0.62359	T	0.319	0.68839	T	10	0.10538623	0.19478	T	0.240383	0.88672	D	0.187	0.46274	0.307	0.27806	0.575483156055	0.57216	0.3690868176414553	0.36822	0.128894738699	0.14537	0.382844746113	0.22659	T	0.173935	0.52298	T	-0.16747	0.25619	T	-0.478335	0.24622	T	0.483704030513763	0.32033	T	0.289471	0.05256	T	0.034141365	0.03773	0.030199641	0.01446	0.034141365	0.03773	0.030199641	0.01446	-3.787	0.20610	T	.	.	0.081	0.08224	B	.	.	0.778799	0.11490	8.091	0.95082318958236756	0.26136	0.52178	0.29070	D	AEFDIJ	0.220625	0.34535	N	-0.709520483023827	0.15753	0.7966866	-0.553981751711738	0.20700	1.116468	0.989080022798683	0.31718	0.752111	0.98806	0	0.59043	0.45803	0	0.389834	0.06288	2	0.564101	0.26826	0	.	.	4.1	4.1	0.47196	0.266000	0.18300	0.336000	0.17333	0.599000	0.40250	0.286000	0.25196	0.115000	0.22839	0.630000	0.32157	0.0:0.905:0.0:0.095	10.091	0.41618	951	0.11083	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2476.14	33	chr2	229591816	.	C	T	2476.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.66;DP=517;ExcessHet=0.2348;FS=1.072;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-1.198;SOR=0.811	GT:AD:DP:GQ:PL	0/1:62,53:115:99:1277,0,1423	8	0	2	0
chr2	229976317	229976317	A	G	exonic	FBXO36	.	nonsynonymous SNV	FBXO36:NM_174899:exon2:c.A173G:p.H58R	.	441	1066	15	0	0	15	0.00698649	.	.	.	2344268	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.249	0.0150657575556	0.0005	0.000199681	0.0010	0	0.0005	0	0	0.0012	0	0.0022	0.0009508	147	154602	rs139081403	0.0007	0.0007	0.0006	0.0007	0.0113	0.0006	0.0006	0.0091	0.0083	8.965e-05	0.0010	0.0047	0	0	0.0113	0.0004	0.0013	0.0024	0.0007	0.0007	0.0006	0.0008	0.0023	0.0006	0.0006	0.0017	0.0015	4.809e-05	0	0.0023	0.0049	0	9.414e-05	0.0034	0.0006	0.0014	0.0010	0.05	0.41096	D	0.026	0.55759	D	0.952	0.70673	P	0.601	0.62418	P	0.000000	0.84330	D	0.000000	0.884071	0.27999	N	2.695	0.78878	M	0.7	0.55266	T	-5.08	0.83092	D	0.564	0.63120	-0.4428	0.70637	T	0.329	0.69682	T	10	0.020536453	0.00475	T	0.015066	0.35586	T	0.249	0.55752	.	.	0.829300019503	0.82767	0.7481369098619418	0.74759	0.180973065125	0.20352	0.464250594378	0.33892	T	0.164	0.50943	T	-0.331705	0.05984	T	-0.255105	0.49311	T	0.123124136544954	0.14732	T	0.786621	0.43725	T	0.5184272	0.68169	0.503896	0.71323	0.5184272	0.68170	0.503896	0.71324	-3.344	0.14311	T	.	.	0.234	0.59948	B	.;.;.	.;.;.	3.820712	0.55171	23.6	0.99693346224742629	0.80112	0.85925	0.45116	D	AEFBI	0.460414	0.51060	N	0.515172305933091	0.67985	5.155493	0.461323216665259	0.65446	4.825021	0.83906728037772	0.24832	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.421255	0.06892	1	.	.	5.74	5.74	0.90070	5.674000	0.67788	10.192000	0.83237	0.748000	0.86766	0.989000	0.36753	1.000000	0.68203	0.971000	0.54645	1.0:0.0:0.0:0.0	13.605	0.61507	963	0.08280	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.009511	0.023392	0.000000	0.017241	0.003049	0.003788	0.1	1297.14	41	chr2	229976317	.	A	G	1297.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.866;DP=394;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.072;SOR=0.678	GT:AD:DP:GQ:PL	0/1:33,22:55:99:476,0,756	8	0	2	0
chr2	232336581	232336583	AGG	-	exonic	DIS3L2	.	nonframeshift deletion	DIS3L2:NM_152383:exon21:c.2609_2611del:p.E874del	Perlman syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	517951	Perlman_syndrome	MONDO:MONDO:0009965,MedGen:C0796113,OMIM:267000,Orphanet:2849	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs749247083	2.128e-05	2.394e-05	1.776e-05	2.483e-05	6.957e-05	1.525e-05	1.329e-05	2.995e-05	2.038e-05	0	0	0	0	0	0	2.248e-05	0	6.957e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3985.1	34	chr2	232336580	.	AAGG	A	3985.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.356;DP=513;ExcessHet=0.2348;FS=0.518;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=19.93;ReadPosRankSum=-0.107;SOR=0.693	GT:AD:DP:GQ:PL	0/1:52,48:100:99:1813,0,2037	8	0	2	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4156.0	117	chr2	232847517	.	A	*	4156.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.101;DP=939;ExcessHet=0.3131;FS=1.955;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=5.36;ReadPosRankSum=0.509;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,52:114:99:.:.:1875,0,2590:.	4	2	4	0
chr2	233462650	233462650	A	G	exonic	DGKD	.	nonsynonymous SNV	DGKD:NM_001377259:exon24:c.A2702G:p.N901S,DGKD:NM_003648:exon25:c.A2969G:p.N990S,DGKD:NM_152879:exon26:c.A3101G:p.N1034S	.	406	1104	11	1	0	13	0.00585322	.	.	.	3205201	DGKD-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.135	.	.	0.00319489	0.0030	0	0.0006	0	0	8.996e-05	0.0077	0.0210	0.0025614	396	154602	rs201384247	0.0012	0.0012	0.0006	0.0018	0.0189	0.0011	0.0011	0.0182	0.0178	2.987e-05	4.473e-05	0	0	0	0.0016	7.195e-06	0.0013	0.0189	0.0006	0.0006	0.0003	0.0009	0.0172	0.0005	0.0004	0.0142	0.0131	2.406e-05	0	0	0	0	0	0	0	0	0.0172	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.046294	0.23454	N	0.439500	0.981593	0.25027	N	-0.14	0.04484	N	-1.0	0.78199	T	0.16	0.05217	N	0.059	0.03069	-0.9630	0.38606	T	0.138	0.45545	T	10	0.004060954	0.00079	T	.	.	.	0.135	0.36572	0.256	0.19689	0.407223025684	0.40337	0.06614763545967561	0.06553	0.388573688024	0.40119	0.328598856926	0.14722	T	0.05319	0.29372	T	-0.380252	0.03105	T	-0.608135	0.12136	T	0.00399687234021469	0.00042	T	.	.	.	0.021439802	0.00746	0.025286177	0.00569	0.021439802	0.00746	0.025286177	0.00569	-1.101	0.01118	T	.	.	0.067	0.02927	B	.;.	.;.	0.526691	0.08954	5.735	0.20337870859659538	0.00727	0.59331	0.30886	D	AEFBCI	0.070745	0.14055	N	-1.04244424391411	0.07736	0.3604049	-0.910491983081611	0.11846	0.6059977	0.696190951250509	0.22644	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.08	-1.44	0.08391	0.137000	0.15816	-0.179000	0.11150	-0.054000	0.16847	0.736000	0.28985	0.000000	0.08366	0.676000	0.33425	0.4875:0.278:0.2345:0.0	4.868	0.12976	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	1	0	0.003525	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.011364	0.1	2215.14	34	chr2	233462650	.	A	G	2215.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.35;DP=467;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=1.16;SOR=0.708	GT:AD:DP:GQ:PL	0/1:51,43:94:99:1111,0,1219	8	0	2	0
chr2	233551416	233551416	G	A	exonic	USP40	.	nonsynonymous SNV	USP40:NM_001365479:exon7:c.C797T:p.T266I,USP40:NM_001382295:exon7:c.C797T:p.T266I,USP40:NM_001382296:exon7:c.C797T:p.T266I,USP40:NM_001382297:exon7:c.C797T:p.T266I,USP40:NM_001382299:exon7:c.C797T:p.T266I,USP40:NM_001382300:exon7:c.C797T:p.T266I,USP40:NM_001382301:exon7:c.C797T:p.T266I,USP40:NM_018218:exon7:c.C797T:p.T266I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0211454813187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.003	0.76473	D	0.991	0.64070	D	0.931	0.66596	D	0.021598	0.26803	N	0.451624	0.802056	0.34524	D	2.48	0.72069	M	1.48	0.31731	T	-3.2	0.64710	D	0.744	0.74918	-0.4265	0.71180	T	0.233	0.59928	T	10	0.7485858	0.75469	D	0.021145	0.43873	T	0.352	0.67326	0.523	0.62668	0.585382094262	0.58212	0.2674321121739993	0.26656	0.173741090173	0.19561	0.495058357716	0.38140	T	0.013729	0.11817	T	-0.0713418	0.41112	T	-0.340254	0.40316	T	0.942872643470764	0.61749	D	0.89491	0.63503	D	0.13332939	0.31015	0.17038059	0.39143	0.13332939	0.31015	0.17038059	0.39142	-9.721	0.72224	D	.	.	0.142	0.34840	B	.;.;.	.;.;.	3.037286	0.40708	21.2	0.9989187869890449	0.96589	0.89378	0.49806	D	AEFBI	0.321575	0.42433	N	0.601830131885395	0.73291	5.942076	0.506147270835235	0.68402	5.215241	0.999999948911874	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.62	5.62	0.85714	3.659000	0.54227	7.466000	0.59102	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.709000	0.34421	0.0:0.0:1.0:0.0	19.660	0.95860	773	0.48803	.;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	239.82	35	chr2	233551416	.	G	A	239.82	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.143;DP=467;ExcessHet=1.5895;FS=202.816;InbreedingCoeff=-0.2375;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=0.482;SOR=8.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,4:24:82:0|1:233551415_T_C:82,0,710:233551415	6	0	4	0
chr2	233637282	233637282	C	T	exonic	UGT1A10	.	stopgain	UGT1A10:NM_019075:exon1:c.C760T:p.R254X	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.000798722	0.0005	0.0038	8.637e-05	0	0	5.997e-05	0	0.0007	0.0003881	60	154602	rs61748821	0.0002	0.0002	0.0002	0.0002	0.0044	0.0001	0.0001	0.0038	0.0036	0.0044	0.0002	0	2.519e-05	0	0.0003	1.079e-05	0.0002	0.0007	0.0010	0.0010	0.0011	0.0008	0.0032	0.0009	0.0008	0.0028	0.0026	0.0032	0	0.0005	0	0.0002	0	0	5.88e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.751	0.75009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195615	0.54322	T	0.254484	0.85832	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.027261	0.96051	35	0.996564195106312	0.77631	0.07703	0.13706	N	AEFGI	0.121528	0.23623	N	0.00934826952317588	0.42280	2.544461	-0.316884459816916	0.27553	1.529699	7.73690491685624E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.52	-0.726	0.10606	0.394000	0.20559	-20.000000	0.00162	0.599000	0.40250	0.013000	0.18845	0.000000	0.08366	0.330000	0.25202	0.6397:0.3602:0.0:0.0	12.880	0.57400	471	0.78036	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	5128.14	43	chr2	233637282	.	C	T	5128.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.27;DP=790;ExcessHet=0.2348;FS=3.221;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.98;MQRankSum=0;QD=12.36;ReadPosRankSum=0.681;SOR=0.468	GT:AD:DP:GQ:PL	0/1:93,101:194:99:2587,0,2154	8	0	2	0
chr2	237821361	237821362	AC	-	exonic	RBM44	.	frameshift deletion	RBM44:NM_001080504:exon7:c.2113_2114del:p.H706Cfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	.	0.0014	0.0006	0.0007	0	0	0.0028	0	0.0001	0.0002689	7	26028	rs529676431	0.0022	0.0023	0.0023	0.0020	0.0026	0.0021	0.0021	0.0025	0.0025	0.0004	0.0007	0	0	0.0012	0.0005	0.0026	0.0019	6.291e-05	0.0012	0.0012	0.0012	0.0011	0.0021	0.0010	0.0010	0.0018	0.0017	0.0002	0	0.0007	0	0	0.0010	0	0.0021	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	852.41	34	chr2	237821360	.	AAC	A	852.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.453;DP=294;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.781;SOR=0.708	GT:AD:DP:GQ:PL	0/1:24,7:31:99:218,0,967	7	0	3	0
chr3	11018647	11018647	C	G	exonic	SLC6A1	.	stopgain	SLC6A1:NM_001348250:exon5:c.C420G:p.Y140X,SLC6A1:NM_001348251:exon5:c.C60G:p.Y20X,SLC6A1:NM_003042:exon5:c.C420G:p.Y140X	Myoclonic-atonic epilepsy, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.9e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000006	0.62929	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.869	0.86618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;High;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	8.764190	0.97991	38	0.99715845803623193	0.81703	0.94598	0.61689	D	AEFDBI	0.162699	0.28890	N	0.647254133725166	0.76191	6.441153	0.486709776876107	0.67108	5.04014	0.9095199609595	0.26314	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	3.71	0.41733	3.332000	0.51798	2.256000	0.31725	-0.260000	0.06918	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.8347:0.0:0.1653	9.207	0.36459	958	0.09170	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	189.43	33	chr3	11018647	.	C	G	189.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.609;DP=567;ExcessHet=0;FS=93.254;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=3.26;SOR=6.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,24:171:99:0|1:11018647_C_G:201,0,5607:11018647	9	0	1	0
chr3	11018648	11018648	A	G	exonic	SLC6A1	.	nonsynonymous SNV	SLC6A1:NM_001348250:exon5:c.A421G:p.I141V,SLC6A1:NM_001348251:exon5:c.A61G:p.I21V,SLC6A1:NM_003042:exon5:c.A421G:p.I141V	Myoclonic-atonic epilepsy, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0134550420386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.383e-06	1.029e-05	1.377e-06	1.388e-06	1.822e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.822e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.336	0.18232	T	0.1	0.25713	B	0.09	0.29851	B	0.000001	0.84330	D	0.000000	1	0.81001	D	1.425	0.35738	L	-0.81	0.73949	T	-0.8	0.22078	N	0.48	0.51494	-0.6455	0.62909	T	0.281	0.65239	T	10	0.49007845	0.60939	T	0.013455	0.32862	T	0.274	0.59007	0.594	0.72371	0.35158688536	0.34763	0.606656179932116	0.60596	1.10768363041	0.77946	0.767571687698	0.77061	T	0.166415	0.51264	T	0.0481983	0.58110	T	-0.168543	0.57575	T	0.885394752025604	0.53572	D	0.946405	0.79487	D	0.3557571	0.57511	0.3215052	0.58098	0.3557571	0.57512	0.3215052	0.58097	-7.56	0.58031	D	0.21143025180598024	0.28348	0.131	0.40873	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.885109	0.56491	23.7	0.99830203036871212	0.91198	0.98607	0.84635	D	AEFDBI	0.949265	0.96174	D	0.0702871894512385	0.45080	2.770647	0.228486286727377	0.51435	3.32594	0.999999727637841	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	4.59	0.56297	9.197000	0.94121	11.280000	0.91702	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.420	0.66752	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	.	.	.	.	.	.	.	.	0.05	186.43	33	chr3	11018648	.	A	G	186.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.446;DP=567;ExcessHet=0;FS=93.907;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=3.36;SOR=6.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,24:172:99:0|1:11018647_C_G:198,0,5647:11018647	9	0	1	0
chr3	11018654	11018654	A	G	exonic	SLC6A1	.	nonsynonymous SNV	SLC6A1:NM_001348250:exon5:c.A427G:p.I143V,SLC6A1:NM_001348251:exon5:c.A67G:p.I23V,SLC6A1:NM_003042:exon5:c.A427G:p.I143V	Myoclonic-atonic epilepsy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.501	0.0235481953059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.15665	T	0.325	0.18846	T	0.999	0.77913	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.54	0.38927	L	-0.97	0.75670	T	-0.42	0.14193	N	0.431	0.47022	-0.2256	0.77003	T	0.446	0.78203	T	10	0.73895884	0.74820	D	0.023548	0.46515	T	0.501	0.78413	0.651	0.78858	0.699533008514	0.69693	0.7291083010060595	0.72855	1.36049371721	0.84323	0.85450553894	0.90293	D	0.152024	0.49223	T	0.0609312	0.59730	T	-0.150253	0.59221	T	0.949715793132782	0.63174	D	0.921708	0.71584	D	0.18418859	0.39723	0.1642013	0.38051	0.18418859	0.39722	0.1642013	0.38050	-4.846	0.35123	T	0.10910972120441913	0.09074	0.235	0.59080	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.575085	0.72214	25.8	0.99820221140467402	0.90326	0.98607	0.84635	D	AEFDBI	0.949265	0.96174	D	0.592272280113979	0.72691	5.845828	0.595767375292205	0.74636	6.170868	0.999999727637841	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	4.59	0.56297	7.385000	0.79030	11.280000	0.91702	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.420	0.66752	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	.	.	.	.	.	.	.	.	0.05556	193.21	115	chr3	11018654	.	A	G	193.21	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-4.256;DP=857;ExcessHet=0;FS=97.543;InbreedingCoeff=-0.0915;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=3.92;SOR=6.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,24:170:99:0|1:11018647_C_G:204,0,5510:11018647	8	0	1	1
chr3	11348028	11348028	C	T	exonic	ATG7	.	nonsynonymous SNV	ATG7:NM_001144912:exon11:c.C1160T:p.P387L,ATG7:NM_001349236:exon11:c.C1160T:p.P387L,ATG7:NM_001349238:exon11:c.C344T:p.P115L,ATG7:NM_001136031:exon12:c.C1277T:p.P426L,ATG7:NM_006395:exon12:c.C1277T:p.P426L,ATG7:NM_001349233:exon13:c.C1277T:p.P426L,ATG7:NM_001349234:exon13:c.C1277T:p.P426L,ATG7:NM_001349235:exon13:c.C1277T:p.P426L,ATG7:NM_001349232:exon14:c.C1277T:p.P426L	.	427	1080	15	0	0	15	0.00689655	.	.	.	1668941	NAFLD1|Spinocerebellar_ataxia,_autosomal_recessive_31|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|MONDO:MONDO:0030323,MedGen:C5543627,OMIM:619422|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.548	0.170082352553	0.0007	0.000399361	0.0011	0.0005	0.0003	0	0.0002	0.0014	0	0.0019	0.0010867	168	154602	rs143545741	0.0014	0.0014	0.0014	0.0015	0.0047	0.0014	0.0013	0.0033	0.0029	0.0001	0.0008	3.833e-05	0	0.0002	0.0047	0.0016	0.0011	0.0023	0.0009	0.0009	0.0010	0.0009	0.0021	0.0008	0.0008	0.0012	0.0011	0.0002	0.0121	0.0005	0	0	0.0003	0.0102	0.0014	0.0014	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.165	0.97651	H	0.73	0.50721	T	-10.0	0.98823	D	0.965	0.97535	0.400	0.89097	D	0.530	0.82554	D	10	0.18800867	0.34336	T	0.170082	0.84773	D	0.548	0.81252	.	.	0.956588408944	0.95612	0.8616706473677921	0.86131	0.951127366345	0.72634	0.6772762537	0.63878	T	0.738446	0.92736	D	0.00510262	0.52356	T	0.228386	0.84589	D	0.782874047756195	0.45231	D	0.956004	0.89015	D	0.97037166	0.98295	0.93351585	0.97335	0.97037166	0.98295	0.93351585	0.97336	-10.787	0.78856	D	.	.	0.722	0.74650	P	.;.;.	.;.;.	4.950481	0.81771	27.6	0.99894003545533616	0.96742	0.98369	0.82077	D	AEFBI	0.844561	0.76151	D	1.1214979573127	0.98513	18.49366	1.02809730580699	0.99099	20.672	0.999999999999863	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	7.455000	0.79783	7.638000	0.63056	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:1.0:0.0:0.0	20.478	0.99191	660	0.61921	.;.;THIF-type NAD/FAD binding fold	.	.	.	.	.	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	0.004044	0.000000	0.005435	0.002924	0.000000	0.000000	0.006173	0.003788	0.05	892.43	33	chr3	11348028	.	C	T	892.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.587;DP=378;ExcessHet=0;FS=3.618;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.063;SOR=0.331	GT:AD:DP:GQ:PL	0/1:30,37:67:99:904,0,819	9	0	1	0
chr3	16370103	16370103	C	T	exonic	RFTN1	.	nonsynonymous SNV	RFTN1:NM_015150:exon6:c.G1003A:p.A335T	.	.	.	.	.	.	.	.	.	.	.	2759767	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.304	0.042685918095	7.7e-05	0.000199681	0.0002	9.61e-05	0	0.0001	0	0	0	0.0011	0.0001358	21	154602	rs138057177	9.919e-05	9.987e-05	6.806e-05	0.0001	0.0013	8.578e-05	8.047e-05	0.0011	0.0011	0.0002	2.236e-05	0	2.519e-05	0	0	9.892e-06	0.0002	0.0013	0.0001	0.0001	0.0001	0.0001	0.0015	8.162e-05	6.719e-05	0.0007	0.0005	0.0003	0	6.534e-05	0	0	0	0	0	0	0.0015	0.004	0.65419	D	0.013	0.63109	D	1.0	0.90584	D	0.966	0.71341	D	0.000000	0.84330	D	0.052859	0.975549	0.39198	D	2.79	0.81396	M	1.3	0.35590	T	-2.07	0.47344	N	0.789	0.78546	-0.6568	0.62417	T	0.210	0.57041	T	10	0.26242262	0.43710	T	0.042686	0.60593	D	0.304	0.62510	.	.	0.515771540734	0.51220	0.44943894464520623	0.44861	0.424428370351	0.42871	0.520946681499	0.41760	T	0.211637	0.57247	T	-0.242937	0.14977	T	-0.16729	0.57690	T	0.175934901279869	0.18974	T	0.911709	0.69400	D	0.3716765	0.58708	0.36967456	0.62233	0.3716765	0.58708	0.36967456	0.62233	-8.344	0.63391	D	.	.	0.300	0.53009	B	.;.	.;.	3.855633	0.55878	23.7	0.99840675062939599	0.92143	0.87222	0.46697	D	AEFDBHCIJ	0.312546	0.41796	N	0.240194155499416	0.53157	3.485779	0.0961272023887077	0.44354	2.718743	0.999999997462298	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.338622	0.05889	2	0.714379	0.83352	0	.	.	5.68	3.84	0.43422	3.561000	0.53515	3.265000	0.37119	0.599000	0.40250	0.993000	0.37899	0.998000	0.33993	0.349000	0.25636	0.2617:0.7383:0.0:0.0	14.888	0.70226	790	0.46189	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2147.43	39	chr3	16370103	.	C	T	2147.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=485;ExcessHet=0;FS=0.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.673;SOR=0.787	GT:AD:DP:GQ:PL	0/1:72,89:161:99:2159,0,1500	9	0	1	0
chr3	19518018	19518018	G	C	exonic	KCNH8	.	nonsynonymous SNV	KCNH8:NM_144633:exon15:c.G2563C:p.V855L	.	437	1041	44	0	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	.	0.0050	0.00878594	0.0071	0.0013	0.0030	0.0093	0.0003	0.0057	0.0122	0.0202	0.0067464	1043	154602	rs148330866	0.0069	0.0069	0.0066	0.0072	0.0187	0.0068	0.0067	0.0180	0.0177	0.0013	0.0028	0.0089	0.0069	0.0004	0.0104	0.0064	0.0093	0.0187	0.0045	0.0045	0.0046	0.0043	0.0195	0.0042	0.0041	0.0163	0.0151	0.0015	0	0.0028	0.0092	0.0064	0.0002	0.0136	0.0058	0.0066	0.0195	0.449	0.09022	T	0.45	0.12957	T	0.004	0.12183	B	0.006	0.12133	B	0.235214	0.15833	U	0.319355	0.952348	0.26441	N	1.22	0.30592	L	-4.94	0.98409	D	-0.12	0.08809	N	0.442	0.48042	0.347	0.88289	D	0.777	0.92439	D	9	0.0077180862	0.00175	T	.	.	.	0.276	0.59253	.	.	0.819814452651	0.81811	0.3165417831225672	0.31567	0.0221848989643	0.02225	0.566369891167	0.48166	T	0.043438	0.26503	T	-0.276342	0.11059	T	-0.154786	0.58818	T	0.00441561722205172	0.00047	T	0.849515	0.53247	T	0.053219985	0.10038	0.05492728	0.09540	0.053219985	0.10038	0.05492728	0.09539	-3.412	0.15218	T	.	.	0.129	0.27553	B	.	.	2.551420	0.33023	19.22	0.97481368689112602	0.34188	0.90754	0.52198	D	AEFI	0.426222	0.49066	N	-0.214322457249247	0.32546	1.836586	-0.0371423809536064	0.38051	2.236427	5.53132372717157E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.66	3.82	0.43153	3.433000	0.52597	7.417000	0.58687	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0727:0.0:0.7821:0.1452	9.463	0.37962	667	0.61242	.	.	.	.	.	.	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	0.010081	0.000000	0.006793	0.011696	0.000000	0.008621	0.012195	0.022727	0.1	1842.14	34	chr3	19518018	.	G	C	1842.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.525;DP=432;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.244;SOR=0.65	GT:AD:DP:GQ:PL	0/1:45,29:74:99:647,0,1073	8	0	2	0
chr3	28524676	28524676	G	A	exonic	ZCWPW2	.	nonsynonymous SNV	ZCWPW2:NM_001324170:exon7:c.G873A:p.M291I,ZCWPW2:NM_001324169:exon9:c.G1059A:p.M353I,ZCWPW2:NM_001040432:exon10:c.G1059A:p.M353I	.	491	1030	1	0	0	1	0.000485201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00841882411301	.	.	0.0001	0	0	0	0	7.883e-05	0.0011	0.0007	0.00011	17	154602	rs765011518	4.742e-05	5.133e-05	2.001e-05	7.514e-05	0.0006	3.824e-05	3.489e-05	0.0005	0.0004	0	0	0	2.643e-05	0	0.0006	1.394e-05	1.736e-05	0.0006	2.632e-05	2.627e-05	0	5.39e-05	0.0006	8.15e-06	5.15e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	1.472e-05	0	0.0006	0.115	0.28520	T	0.174	0.30045	T	0.132	0.27209	B	0.017	0.18140	B	0.000004	0.62929	D	0.000000	0.757592	0.29573	N	1.64	0.41913	L	1.21	0.37230	T	-1.25	0.31576	N	0.211	0.23506	-0.9907	0.32424	T	0.088	0.33996	T	10	0.046173573	0.03776	T	0.008419	0.22282	T	0.059	0.16972	0.141	0.04462	0.0482279557977	0.04254	0.33878854502218003	0.33791	0.0195968451124	0.01924	0.574956893921	0.49376	T	0.00412	0.03532	T	-0.415206	0.01837	T	-0.473397	0.25151	T	0.0718506123754381	0.08909	T	0.632737	0.24712	T	0.17270294	0.37976	0.21228608	0.45692	0.17270294	0.37976	0.21228608	0.45691	-2.101	0.03588	T	.	.	0.665	0.71517	P	.	.	2.453687	0.31600	18.79	0.96315703138320874	0.29397	0.79120	0.39147	D	AEFI	0.329948	0.43014	N	0.160863099991166	0.49327	3.134388	0.278060689003902	0.54261	3.591615	0.0096137689736406	0.11885	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.03	5.15	0.70287	2.955000	0.48814	6.625000	0.56133	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0838:0.0:0.9162:0.0	11.663	0.50618	713	0.56348	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.05	294.47	33	chr3	28524676	.	G	A	294.47	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.294;DP=302;ExcessHet=0;FS=0;InbreedingCoeff=-0.0559;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.339;SOR=1.022	GT:AD:DP:GQ:PL	0/1:12,11:23:99:306,0,320	9	0	1	0
chr3	37020402	37020402	T	C	exonic	MLH1	.	nonsynonymous SNV	MLH1:NM_001167619:exon10:c.T254C:p.V85A,MLH1:NM_001258273:exon10:c.T254C:p.V85A,MLH1:NM_001354615:exon10:c.T254C:p.V85A,MLH1:NM_001354616:exon10:c.T254C:p.V85A,MLH1:NM_001354629:exon10:c.T878C:p.V293A,MLH1:NM_000249:exon11:c.T977C:p.V326A,MLH1:NM_001167617:exon11:c.T683C:p.V228A,MLH1:NM_001167618:exon11:c.T254C:p.V85A,MLH1:NM_001258271:exon11:c.T977C:p.V326A,MLH1:NM_001354617:exon11:c.T254C:p.V85A,MLH1:NM_001354618:exon11:c.T254C:p.V85A,MLH1:NM_001354620:exon11:c.T683C:p.V228A,MLH1:NM_001354628:exon11:c.T977C:p.V326A,MLH1:NM_001354630:exon11:c.T977C:p.V326A,MLH1:NM_001258274:exon12:c.T254C:p.V85A,MLH1:NM_001354619:exon12:c.T254C:p.V85A	Colorectal cancer, hereditary nonpolyposis, type 2;Mismatch repair cancer syndrome, Autosomal recessive;Muir-Torre syndrome, Autosomal dominant	0	1516	5	1	0	7	0.00230339	.	.	YES	51666	Hereditary_nonpolyposis_colorectal_neoplasms|Muir-Torré_syndrome|Lynch_syndrome_1|Lynch_syndrome|Colorectal_cancer,_hereditary_nonpolyposis,_type_2|Colorectal_cancer,_non-polyposis|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided|Breast_and/or_ovarian_cancer	MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:587|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310,Orphanet:144|MedGen:CN221576|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MedGen:CN221562	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.739	0.0916545602777	0.0008	0.000199681	0.0005	0.0003	0.0003	0	0	0.0005	0.0033	0.0012	0.0004916	76	154602	rs63751049	0.0006	0.0006	0.0005	0.0007	0.0036	0.0006	0.0005	0.0024	0.0020	8.961e-05	0.0003	0	0	1.872e-05	0.0036	0.0006	0.0006	0.0014	0.0004	0.0004	0.0005	0.0003	0.0017	0.0003	0.0003	0.0008	0.0006	0.0001	0	6.536e-05	0	0	0	0.0136	0.0007	0	0.0017	0.002	0.91255	D	0.003	0.76473	D	0.62	0.39915	P	0.347	0.42698	B	0.001785	0.37998	N	0.261625	0.999999	0.58761	D	3.35	0.91085	M	-1.69	0.82985	D	-3.89	0.72820	D	0.781	0.77789	0.592	0.91791	D	0.709	0.90006	D	10	0.41998726	0.56798	T	0.091655	0.75747	D	0.856	0.95581	.	.	0.978194983478	0.97795	0.5831469033639415	0.58243	0.171473513557	0.19314	0.645906686783	0.59404	T	0.82378	0.95719	D	0.153688	0.69613	D	0.397545	0.92033	D	0.147231589291505	0.16881	T	0.878312	0.61048	D	0.7073891	0.78463	0.80548286	0.88614	0.7646559	0.81730	0.81967694	0.89518	-10.518	0.79620	D	0.8270670779727851	0.89876	0.578	0.76506	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.963342	0.58142	23.9	0.99811413313362374	0.89531	0.98900	0.88361	D	AEFBI	0.941729	0.94539	D	0.675049932665721	0.77999	6.783748	0.694672481234301	0.81974	7.653682	0.999999999538475	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	7.640000	0.82502	7.812000	0.69465	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.073	0.80759	224	0.91330	DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-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	1	0	0.003525	0.000000	0.004076	0.000000	0.000000	0.008621	0.006098	0.003788	0.1	7947.14	34	chr3	37020402	.	T	C	7947.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.948;DP=1017;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.21;SOR=0.703	GT:AD:DP:GQ:PL	0/1:190,185:375:99:4051,0,4499	8	0	2	0
chr3	37327438	37327438	T	C	exonic	GOLGA4	.	nonsynonymous SNV	GOLGA4:NM_002078:exon14:c.T5552C:p.I1851T,GOLGA4:NM_001172713:exon15:c.T5618C:p.I1873T	.	427	1094	1	0	0	1	0.00045683	.	.	.	3974492	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.00383674374464	.	.	8.358e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs562115801	1.78e-05	1.779e-05	1.498e-05	2.064e-05	0.0002	1.238e-05	1.052e-05	0.0002	0.0001	0	0	0	2.519e-05	0	0.0002	0	6.63e-05	0.0002	1.972e-05	1.97e-05	0	4.037e-05	0.0004	5.24e-06	2.45e-06	7.282e-05	3.026e-05	0	0	0	0	0.0002	0	0	0	0	0.0004	1.0	0.00964	T	0.309	0.19782	T	0.0	0.02946	B	0.0	0.01387	B	0.571778	0.05484	N	1.321480	1	0.08975	N	0.915	0.23335	L	1.97	0.22067	T	0.48	0.03041	N	0.077	0.12627	-0.9679	0.37632	T	0.050	0.21417	T	10	0.021447092	0.00513	T	0.003837	0.08992	T	0.039	0.10176	0.175	0.08135	0.192905019026	0.18896	0.03690415522511744	0.03637	0.0519918682449	0.05721	0.36184322834	0.19654	T	0.023984	0.18210	T	-0.583424	0.00184	T	-0.779633	0.02464	T	0.00396353409785315	0.00042	T	0.744825	0.36507	T	0.021201158	0.00711	0.037994217	0.03572	0.021201158	0.00710	0.037994217	0.03571	-1.966	0.03055	T	.	.	0.107	0.28464	B	.;.;.	.;.;.	0.595568	0.09641	6.413	0.55934872858805618	0.05446	0.01859	0.05742	N	AEFBI	0.047226	0.07929	N	-0.804647966045599	0.13191	0.6481252	-0.801735504658301	0.14454	0.7552673	0.981272183447033	0.30241	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.81	0.467	0.15933	-0.145000	0.10248	-0.513000	0.08734	0.654000	0.53741	0.000000	0.06391	0.000000	0.08366	0.926000	0.46234	0.0:0.5801:0.0:0.4199	8.874	0.34490	227	0.91186	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1129.43	33	chr3	37327438	.	T	C	1129.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.326;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-0.562;SOR=0.7	GT:AD:DP:GQ:PL	0/1:59,49:108:99:1141,0,1432	9	0	1	0
chr3	38315591	38315591	G	T	exonic	SLC22A14	.	nonsynonymous SNV	SLC22A14:NM_004803:exon8:c.G1412T:p.C471F,SLC22A14:NM_001320033:exon9:c.G1412T:p.C471F	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0344034742967	.	.	.	.	.	.	.	.	.	.	.	.	.	rs896508148	1.095e-05	1.163e-05	8.168e-06	1.375e-05	0.0007	6.48e-06	5.24e-06	0.0002	0.0001	0	0	0	0	0	0.0007	8.094e-06	3.312e-05	1.159e-05	1.314e-05	1.313e-05	0	2.69e-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	0.594	0.05737	T	0.0	0.92824	D	0.005	0.12996	B	0.005	0.11217	B	0.315093	0.04039	N	2.300680	1	0.08975	N	1.01	0.25309	L	0.01	0.62459	T	-1.48	0.36189	N	0.233	0.26233	-1.0413	0.16921	T	0.126	0.43070	T	10	0.10644123	0.19723	T	0.034403	0.55655	D	0.065	0.18881	0.526	0.63115	0.128392430309	0.12331	0.32279231795511815	0.32192	0.180583987045	0.20310	0.277055263519	0.07085	T	0.052202	0.29096	T	-0.220395	0.17938	T	-0.554358	0.16910	T	0.0295864584381348	0.01926	T	0.358964	0.08219	T	0.057614338	0.11489	0.07181579	0.15420	0.057614338	0.11488	0.07181579	0.15420	-3.266	0.13302	T	.	.	0.067	0.03372	B	.;.	.;.	0.807869	0.11788	8.360	0.92654460050471121	0.22133	0.12446	0.17274	N	AEFBCI	0.095925	0.19373	N	-1.09964151641008	0.06651	0.306735	-1.12709676677832	0.07185	0.3485988	0.103774631293853	0.16456	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.73	0.838	0.18037	1.077000	0.30353	0.388000	0.17857	0.618000	0.50648	0.217000	0.24502	0.710000	0.26286	0.030000	0.13115	0.1106:0.0:0.4934:0.3959	4.431	0.10951	557	0.71576	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1216.43	34	chr3	38315591	.	G	T	1216.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=432;ExcessHet=0;FS=5.962;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-1.601;SOR=1.259	GT:AD:DP:GQ:PL	0/1:68,51:119:99:1228,0,1628	9	0	1	0
chr3	39185299	39185299	C	T	exonic	XIRP1	.	nonsynonymous SNV	XIRP1:NM_001351377:exon2:c.G196A:p.G66S,XIRP1:NM_194293:exon2:c.G4147A:p.G1383S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00322029247342	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs200917704	1.71e-05	1.71e-05	9.528e-06	2.475e-05	0.0002	1.174e-05	9.92e-06	0.0002	0.0001	0	0	0	0	0	0.0002	2.698e-06	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.329	0.44501	T	0.408	0.35000	B	0.058	0.26451	B	0.000082	0.00436	N	13.149900	0.556435	0.32176	D	1.59	0.40313	L	4.01	0.17596	T	-0.73	0.37759	N	0.069	0.10769	-1.0199	0.23747	T	0.039	0.16677	T	10	0.04979822	0.04619	T	0.00322	0.07087	T	0.046	0.12618	0.261	0.20473	0.0666544352282	0.05500	0.08142286624637653	0.08077	0.12612735927	0.14212	0.279167950153	0.07376	T	0.089313	0.38345	T	-0.537349	0.00347	T	-0.717492	0.04917	T	0.0673760048165748	0.08277	T	0.321068	0.06505	T	0.04024011	0.05706	0.053622287	0.09069	0.04024011	0.05706	0.053622287	0.09068	-3.243	0.13013	T	.	.	0.093	0.15385	B	.;.	.;.	1.267956	0.16667	12.69	0.95616588656553902	0.27376	0.03151	0.08114	N	AEFDBI	0.158132	0.28375	N	-0.823085999800999	0.12721	0.6219259	-0.886647563817769	0.12409	0.6381722	0.999978541733127	0.50053	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.24	2.42	0.28720	0.633000	0.24289	0.507000	0.19047	-0.175000	0.10903	0.030000	0.20431	0.000000	0.08366	0.049000	0.15107	0.0:0.7842:0.0:0.2158	7.316	0.25673	468	0.78227	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1364.43	41	chr3	39185299	.	C	T	1364.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.919;DP=480;ExcessHet=0;FS=3.934;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=-1;SOR=0.977	GT:AD:DP:GQ:PL	0/1:84,63:147:99:1376,0,2040	9	0	1	0
chr3	42184709	42184709	G	A	exonic	TRAK1	.	nonsynonymous SNV	TRAK1:NM_001265609:exon3:c.G166A:p.A56T,TRAK1:NM_001265610:exon3:c.G166A:p.A56T,TRAK1:NM_001349248:exon3:c.G166A:p.A56T,TRAK1:NM_001349249:exon3:c.G166A:p.A56T,TRAK1:NM_014965:exon3:c.G214A:p.A72T,TRAK1:NM_001042646:exon4:c.G388A:p.A130T,TRAK1:NM_001265608:exon4:c.G388A:p.A130T,TRAK1:NM_001349245:exon4:c.G76A:p.A26T,TRAK1:NM_001349246:exon4:c.G388A:p.A130T,TRAK1:NM_001349247:exon4:c.G388A:p.A130T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.521	0.0577979969922	.	.	8.244e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs760745873	2.737e-06	3.42e-06	2.723e-06	2.75e-06	2.988e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	2.988e-05	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.061	0.48080	T	1.0	0.90584	D	1.0	0.97372	D	0.000054	0.53742	D	0.124247	1	0.81001	D	3.055	0.86842	M	1.52	0.30669	T	-3.54	0.69236	D	0.951	0.95956	-0.5528	0.66680	T	0.234	0.60124	T	10	0.8972198	0.89077	D	0.057798	0.67091	D	0.521	0.79643	0.748	0.87905	0.645517457789	0.64258	0.7894359530256794	0.78895	0.887596563285	0.70075	0.823992609978	0.85641	D	0.611559	0.87888	D	0.171393	0.71251	D	0.189946	0.82567	D	0.98124758089291	0.73802	D	0.989657	0.96624	D	0.50085926	0.67145	0.572225	0.75225	0.50085926	0.67146	0.572225	0.75226	-12.306	0.86481	D	.	.	0.971	0.91905	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.543731	0.91987	32	0.99941690953351336	0.99824	0.96405	0.68977	D	AEFGBCIJ	0.917613	0.88548	D	0.92985357690017	0.93144	11.84893	0.873025421009449	0.94287	12.64437	1.0	0.98316	0.730579	0.87903	0	0.702456	0.74545	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	4.97	4.97	0.65419	9.755000	0.98102	11.761000	0.95631	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	17.651	0.88066	824	0.40336	HAP1, N-terminal;HAP1, N-terminal;HAP1, N-terminal;.;HAP1, N-terminal;.;HAP1, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1642.43	40	chr3	42184709	.	G	A	1642.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=463;ExcessHet=0;FS=4.991;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=1.44;SOR=1.196	GT:AD:DP:GQ:PL	0/1:40,66:106:99:1654,0,799	9	0	1	0
chr3	42223223	42223223	C	G	exonic	TRAK1	.	nonsynonymous SNV	TRAK1:NM_001349248:exon15:c.C2063G:p.P688R,TRAK1:NM_001349249:exon15:c.C2126G:p.P709R,TRAK1:NM_001042646:exon16:c.C2348G:p.P783R,TRAK1:NM_001349245:exon16:c.C1973G:p.P658R,TRAK1:NM_001349246:exon16:c.C2285G:p.P762R	.	421	1082	19	0	0	19	0.00870362	.	.	.	698084	TRAK1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.236	0.0602834960965	0.0032	0.00159744	0.0040	0.0007	0.0016	0	0.0031	0.0055	0.0056	0.0038	0.0038227	591	154602	rs143591096	0.0046	0.0046	0.0046	0.0046	0.0102	0.0045	0.0045	0.0081	0.0074	0.0006	0.0025	0.0099	0	0.0046	0.0102	0.0049	0.0048	0.0037	0.0036	0.0036	0.0034	0.0037	0.0052	0.0033	0.0032	0.0043	0.0041	0.0008	0.0033	0.0052	0.0115	0	0.0044	0.0034	0.0047	0.0028	0.0025	0.105	0.63226	T	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999772	0.48980	D	2.31	0.66127	M	0.64	0.52867	T	-4.18	0.78472	D	0.814	0.84090	-0.6917	0.60829	T	0.181	0.52798	T	10	0.014560461	0.00306	T	0.060283	0.67949	D	0.236	0.53931	.	.	0.814432940858	0.81269	0.6963725277447097	0.69578	0.93105587409	0.71815	0.663438677788	0.61900	T	0.698369	0.91292	D	-0.330531	0.06073	T	-0.246332	0.50178	T	0.0174422847877956	0.00481	T	0.953005	0.82069	D	0.25303912	0.48323	0.21788044	0.46470	0.27379662	0.50446	0.18927023	0.42263	-4.154	0.26082	T	.	.	0.693	0.72675	P	.;.;.	.;.;.	4.327590	0.66282	24.9	0.99842403403797753	0.92229	0.98629	0.84891	D	AEFDBI	0.698973	0.65648	D	0.48861473164218	0.66422	4.948293	0.4323055844489	0.63588	4.595643	0.999999758550495	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	4.45	0.53365	5.890000	0.69515	5.918000	0.51122	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0:0.9221:0.0:0.0779	13.001	0.58084	667	0.61242	.;.;.	.	.	.	.	.	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	0.014602	0.010101	0.019022	0.002924	0.000000	0.025862	0.012195	0.022727	0.05	980.43	35	chr3	42223223	.	C	G	980.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.742;DP=468;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=0.531;SOR=0.678	GT:AD:DP:GQ:PL	0/1:57,44:101:99:992,0,1440	9	0	1	0
chr3	48375464	48375464	G	T	exonic	FBXW12	.	nonsynonymous SNV	FBXW12:NM_001159929:exon4:c.G340T:p.V114L,FBXW12:NM_001159927:exon5:c.G397T:p.V133L,FBXW12:NM_207102:exon5:c.G397T:p.V133L	.	430	1084	7	1	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00878594	0.0046	0	0.0003	0	0	4.499e-05	0.0022	0.0337	0.0040168	621	154602	rs201742935	0.0019	0.0019	0.0010	0.0028	0.0307	0.0018	0.0018	0.0297	0.0293	3.083e-05	7.067e-05	0	2.554e-05	0	0.0014	1.366e-05	0.0017	0.0307	0.0011	0.0011	0.0006	0.0016	0.0329	0.0010	0.0009	0.0288	0.0272	0.0001	0	6.537e-05	0	0	0	0	2.94e-05	0	0.0329	0.551	0.10980	T	0.048	0.50514	D	0.331	0.33259	B	0.093	0.30104	B	0.089265	0.20436	N	0.493332	1	0.81001	D	1.015	0.25427	L	1.8	0.35775	T	-1.01	0.26639	N	0.225	0.25253	-1.0547	0.13119	T	0.046	0.19559	T	10	0.0038165748	0.00072	T	.	.	.	0.015	0.02232	0.427	0.47350	0.288727942641	0.28479	0.22800968918968012	0.22715	0.330506473788	0.35129	0.336339563131	0.15889	T	0.009119	0.08323	T	-0.556872	0.00265	T	-0.54831	0.17488	T	0.0511540155149288	0.05701	T	0.552645	0.21276	T	0.05340051	0.10101	0.036403667	0.03080	0.05340051	0.10101	0.036403667	0.03080	-5.626	0.43029	T	.	.	0.486	0.63951	A	.;.;.	.;.;.	2.747483	0.36003	20.1	0.99473983841280977	0.66472	0.39633	0.26256	N	AEFI	0.055158	0.10090	N	-0.412522500352013	0.25030	1.355738	-0.327763760614018	0.27205	1.508009	0.0060291358865821	0.11107	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.22	2.4	0.28568	0.261000	0.18211	1.194000	0.24787	0.676000	0.76740	0.762000	0.29265	0.422000	0.24812	0.933000	0.47100	0.1894:0.1786:0.632:0.0	4.859	0.12934	24	0.98379	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.002924	0.000000	0.000000	0.009146	0.003788	0.05	742.43	36	chr3	48375464	.	G	T	742.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.074;DP=375;ExcessHet=0;FS=3.765;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.048;SOR=0.337	GT:AD:DP:GQ:PL	0/1:25,32:57:99:754,0,679	9	0	1	0
chr3	48420857	48420857	G	A	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon9:c.C1910T:p.P637L,PLXNB1:NM_002673:exon9:c.C1910T:p.P637L	.	.	.	.	.	.	.	.	.	.	.	2217764	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0115263939978	0.0002	0.000199681	6.645e-05	0	0	0	0	7.547e-05	0	0.0002	6.47e-05	10	154602	rs202117717	9.171e-05	9.166e-05	9.124e-05	9.218e-05	0.0002	7.894e-05	7.369e-05	0.0001	0.0001	0	0	0	0	0	0	9.988e-05	9.938e-05	0.0002	2.625e-05	2.624e-05	3.854e-05	1.342e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	0.249	0.17183	T	0.287	0.21210	T	0.0	0.07471	B	0.001	0.11217	B	0.020462	0.27033	N	0.355793	0.999999	0.08975	N	0.97	0.24054	L	3.99	0.03268	T	-2.21	0.49684	N	0.329	0.36989	-0.9481	0.41296	T	0.008	0.02884	T	10	0.07858458	0.12541	T	0.011526	0.29247	T	0.021	0.04004	.	.	0.213499824651	0.20940	0.5601388098240246	0.55940	0.226421735021	0.25199	0.323062896729	0.13885	T	0.143252	0.47927	T	-0.461646	0.00960	T	-0.60875	0.12087	T	0.102712824940681	0.12653	T	0.767723	0.45191	T	0.046817545	0.07901	0.055903874	0.09893	0.046817545	0.07901	0.055903874	0.09892	-5.168	0.47615	T	.	.	0.091	0.27880	B	.;.;.	.;.;.	2.030134	0.25802	16.89	0.4951215982895798	0.04223	0.17665	0.19935	N	AEFGBCI	0.127016	0.24421	N	-0.786316021296908	0.13666	0.6748778	-0.759575185999293	0.15487	0.8147617	0.99996563710126	0.48965	0.651	0.46895	0	0.670034	0.63936	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.24	3.16	0.35406	1.016000	0.29578	2.665000	0.33907	0.676000	0.76740	0.348000	0.25742	0.996000	0.32793	0.831000	0.39176	0.1565:0.0:0.5495:0.2939	5.044	0.13814	15	0.98792	PSI domain;PSI 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	.	.	.	.	.	.	.	.	0.05	1724.43	35	chr3	48420857	.	G	A	1724.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.997;DP=508;ExcessHet=0;FS=4.258;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=1.65;SOR=0.998	GT:AD:DP:GQ:PL	0/1:107,79:186:99:1736,0,2484	9	0	1	0
chr3	48423797	48423797	C	T	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon3:c.G815A:p.R272H,PLXNB1:NM_002673:exon3:c.G815A:p.R272H	.	426	1067	28	1	0	30	0.0138632	.	.	.	3192376	PLXNB1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.0542521768028	0.0052	0.00239617	0.0047	0.0008	0.0032	0	0.0027	0.0050	0.0079	0.0100	0.0046377	717	154602	rs61729213	0.0059	0.0059	0.0056	0.0061	0.0177	0.0058	0.0057	0.0149	0.0139	0.0008	0.0032	0.0081	0.0001	0.0025	0.0177	0.0059	0.0059	0.0115	0.0040	0.0040	0.0040	0.0039	0.0106	0.0037	0.0036	0.0083	0.0074	0.0007	0.0132	0.0051	0.0072	0	0.0037	0.0204	0.0051	0.0076	0.0106	0.057	0.37966	T	0.111	0.37173	T	0.016	0.36856	B	0.001	0.22546	B	0.194289	0.16764	N	0.584617	1	0.08975	N	0.975	0.24501	L	2.79	0.11189	T	-0.94	0.25118	N	0.134	0.13484	-0.9746	0.36213	T	0.011	0.03903	T	10	0.008404374	0.00191	T	0.054252	0.65786	D	0.021	0.04004	.	.	0.20808081866	0.20439	0.39216153544610566	0.39131	0.271221807874	0.29642	0.384781897068	0.22932	T	0.086828	0.37810	T	-0.61637	0.00116	T	-0.648754	0.09042	T	0.00186751405759976	0.00019	T	0.747125	0.36981	T	0.14732799	0.33685	0.06697054	0.13791	0.14732799	0.33685	0.06697054	0.13791	-3.316	0.14285	T	.	.	0.086	0.20586	B	.;.;.	.;.;.	2.502600	0.32310	19.00	0.97602923478947878	0.34859	0.28506	0.23573	N	AEFDBCI	0.184760	0.31209	N	-0.695584778456766	0.16147	0.8201088	-0.697985827993386	0.17010	0.9025726	0.999563213366153	0.40425	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.73	1.82	0.24209	1.091000	0.30526	-0.331000	0.09890	0.545000	0.25583	0.626000	0.27965	0.063000	0.22074	0.019000	0.11356	0.0:0.4917:0.1949:0.3134	5.463	0.15923	15	0.98792	Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema 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	0.014602	0.005051	0.020380	0.005848	0.000000	0.017241	0.009146	0.030303	0.05	1184.43	34	chr3	48423797	.	C	T	1184.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.279;DP=434;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.624;SOR=0.653	GT:AD:DP:GQ:PL	0/1:62,50:112:99:1196,0,1529	9	0	1	0
chr3	50276374	50276374	G	A	exonic	SEMA3B	.	nonsynonymous SNV	SEMA3B:NM_001290062:exon11:c.G889A:p.G297S,SEMA3B:NM_001290063:exon11:c.G889A:p.G297S,SEMA3B:NM_001290060:exon17:c.G1918A:p.G640S,SEMA3B:NM_001290061:exon17:c.G1933A:p.G645S,SEMA3B:NM_001005914:exon18:c.G1915A:p.G639S,SEMA3B:NM_004636:exon18:c.G1918A:p.G640S	.	.	.	.	.	.	.	.	.	.	.	3215578	SEMA3B-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.435	.	.	0.000998403	0.0007	0	0	0	.	0	0	0.0010	8.41e-05	13	154602	rs587686284	0.0001	9.85e-05	4.994e-05	0.0002	0.0017	8.85e-05	8.363e-05	0.0015	0.0014	0	0	0	0	0	0	9.28e-07	5.195e-05	0.0017	4.597e-05	4.593e-05	2.57e-05	6.715e-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	.	.	.	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	0.788	0.79214	0.068	0.83572	D	0.425	0.76863	T	7	0.19554836	0.35410	T	.	.	.	.	.	0.632	0.76810	0.42526943336	0.42144	0.9121786153847298	0.91191	.	.	0.871674418449	0.92806	D	0.256718	0.62766	T	-0.276586	0.11032	T	-0.1947	0.55147	T	0.385251686196626	0.28384	T	0.956904	0.83996	D	0.42504752	0.62426	0.55936986	0.74508	0.42504752	0.62427	0.55936986	0.74508	-9.97	0.73984	D	.	.	0.712	0.74042	P	.;.;.;.;.;.	.;.;.;.;.;.	5.298214	0.88949	29.8	0.99792110101174114	0.87750	0.90584	0.51881	D	AEFDBHCIJ	.	.	.	0.490094081989714	0.66508	4.959463	0.412145614739931	0.62322	4.445526	1.0	0.98316	0.169504	0.03952	1	0.096583	0.02683	0	0.182222	0.04375	1	0.085113	0.02366	1	0.941156	0.60275	4.62	4.62	0.56946	6.280000	0.72654	11.568000	0.93268	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.812000	0.38265	0.0:0.0:1.0:0.0	12.981	0.57966	3	0.99430	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	517.43	33	chr3	50276374	.	G	A	517.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.464;DP=362;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-0.009;SOR=0.84	GT:AD:DP:GQ:PL	0/1:28,23:51:99:529,0,640	9	0	1	0
chr3	50288267	50288267	A	T	exonic	IFRD2	.	nonsynonymous SNV	IFRD2:NM_006764:exon12:c.T1253A:p.L418Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544	0.245652776036	.	0.000599042	0.0001	0	0	0	0	0	0	0.0010	0.0001294	20	154602	rs587699046	0.0001	0.0001	5.174e-05	0.0002	0.0017	8.85e-05	8.335e-05	0.0015	0.0014	0	0	0	0	0	0	8.996e-07	4.97e-05	0.0017	4.597e-05	4.593e-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	0	0.0005	0.0012	0.035	0.72154	D	0.005	0.79402	D	1.0	0.90584	D	0.993	0.81110	D	0.000015	0.62929	D	0.069835	0.999996	0.58761	D	2.275	0.64647	M	0.59	0.53943	T	-3.62	0.76980	D	0.686	0.69213	-0.3462	0.73664	T	0.348	0.71281	T	10	0.08955896	0.15525	T	0.245653	0.88895	D	0.544	0.81018	.	.	0.87502474538	0.87380	0.45100911799471266	0.45018	.	.	0.718858361244	0.69880	T	0.143534	0.47969	T	-0.147053	0.28775	T	-0.0193854	0.69069	D	0.253626546646913	0.23035	T	0.941706	0.78221	D	0.4977547	0.66963	0.48287055	0.70058	0.4977547	0.66964	0.48287055	0.70059	-9.36	0.69984	D	.	.	0.377	0.58269	A	.;.;.	.;.;.	4.916468	0.80938	27.4	0.99529655173696641	0.69777	0.98445	0.82852	D	AEFBCI	0.936558	0.93307	D	0.778937979124553	0.84770	8.381941	0.730359712782309	0.84684	8.361063	0.999995722686411	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	4.78	0.60666	8.714000	0.91109	11.132000	0.86827	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.9225:0.0:0.0775:0.0	10.243	0.42501	3	0.99430	Interferon-related developmental regulator, C-terminal;Interferon-related developmental regulator, C-terminal;Interferon-related developmental regulator, 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	.	.	.	.	.	.	.	.	0.05	934.43	33	chr3	50288267	.	A	T	934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.281;DP=398;ExcessHet=0;FS=0.834;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.17;SOR=0.563	GT:AD:DP:GQ:PL	0/1:41,40:81:99:946,0,1068	9	0	1	0
chr3	52221743	52221743	C	T	exonic	TLR9	.	nonsynonymous SNV	TLR9:NM_017442:exon2:c.G2573A:p.G858E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0160883050402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.01	0.65728	D	0.544	0.37968	P	0.079	0.28749	B	0.209681	0.03378	N	1.856050	1	0.08975	N	2.76	0.80626	M	1.79	0.25509	T	-2.25	0.50337	N	0.3	0.33904	-1.0179	0.24398	T	0.042	0.18160	T	10	0.18391663	0.33741	T	0.016088	0.37172	T	0.068	0.19811	0.375	0.38830	0.589546583947	0.58630	0.6669770428317455	0.66635	0.727271124552	0.62562	0.354756116867	0.18620	T	0.364322	0.72993	T	-0.113871	0.34130	T	-0.401344	0.33228	T	0.535715281963348	0.33945	D	0.825817	0.48860	T	0.054277245	0.10392	0.0760352	0.16798	0.054277245	0.10391	0.0760352	0.16798	-6.69	0.51735	T	.	.	0.107	0.20196	B	.	.	1.902449	0.24163	16.29	0.99114032999827495	0.52802	0.09727	0.15418	N	AEFDGBI	0.118765	0.23209	N	-0.678694206303335	0.16630	0.848966	-0.716763769146747	0.16544	0.8756581	0.992702667317265	0.32938	0.732398	0.92422	0	0.743671	0.97443	0	0.578056	0.29568	0	0.622129	0.49086	0	.	.	5.1	2.14	0.26518	0.422000	0.21016	1.660000	0.27894	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.151000	0.20341	0.1474:0.5309:0.1439:0.1778	2.703	0.04836	163	0.93656	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	6006.14	38	chr3	52221743	.	C	T	6006.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.502;DP=834;ExcessHet=0.2348;FS=0.532;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.328;SOR=0.746	GT:AD:DP:GQ:PL	0/1:107,115:222:99:2851,0,2551	8	0	2	0
chr3	52752149	52752149	T	A	exonic	NEK4	.	nonsynonymous SNV	NEK4:NM_001193533:exon6:c.A884T:p.Q295L,NEK4:NM_001348412:exon7:c.A1151T:p.Q384L,NEK4:NM_001348413:exon7:c.A1151T:p.Q384L,NEK4:NM_001348414:exon7:c.A905T:p.Q302L,NEK4:NM_003157:exon7:c.A1151T:p.Q384L	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0505536125141	7.7e-05	0.000199681	0.0005	0	0	0.0010	0.0023	0.0004	0.0044	0.0002	0.0003946	61	154602	rs201270296	0.0003	0.0003	0.0003	0.0003	0.0013	0.0003	0.0003	0.0010	0.0009	0	0	0	0.0013	0.0040	0.0003	0.0002	0.0003	6.956e-05	0.0004	0.0004	0.0003	0.0005	0.0010	0.0003	0.0003	0.0004	0.0002	2.406e-05	0	0.0001	0	0.0010	0.0030	0.0034	0.0002	0.0005	0	0.002	0.72154	D	0.067	0.44302	T	0.215	0.38028	B	0.075	0.37221	B	0.353475	0.13780	N	0.682031	1	0.08975	N	2.535	0.73915	M	-0.66	0.73311	T	-3.65	0.69950	D	0.286	0.40765	-0.7950	0.55438	T	0.273	0.64474	T	10	0.0057556033	0.00128	T	0.050554	0.64291	D	0.156	0.40720	.	.	0.635663843862	0.63267	0.33334462099124845	0.33247	0.171022968336	0.19268	0.201875984669	0.00513	T	0.131517	0.46106	T	-0.269335	0.11832	T	-0.233771	0.51406	T	0.0895900686946352	0.11169	T	0.60194	0.22516	T	0.1914202	0.40768	0.13865988	0.33107	0.1914202	0.40768	0.13865988	0.33106	-2.732	0.07919	T	.	.	0.089	0.29533	B	.;.;.;.	.;.;.;.	0.383760	0.07557	4.208	0.91673819958225355	0.20964	0.08749	0.14632	N	AEFGBHCI	0.061214	0.11688	N	-0.792145819714951	0.13513	0.6662639	-0.872811053043539	0.12739	0.6570998	0.999993527969851	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.88	2.48	0.29194	0.796000	0.26646	-0.321000	0.09964	-0.163000	0.11536	0.018000	0.19461	0.000000	0.08366	0.006000	0.07323	0.0:0.1793:0.1658:0.6549	4.503	0.11281	30	0.98208	.;.;.;.	.	.	.	.	.	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	0.1	5268.14	34	chr3	52752149	.	T	A	5268.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.224;DP=742;ExcessHet=0.2348;FS=0.522;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=1.23;SOR=0.621	GT:AD:DP:GQ:PL	0/1:114,97:211:99:2270,0,2870	8	0	2	0
chr3	58410115	58410115	A	T	exonic	PXK	.	nonsynonymous SNV	PXK:NM_001289101:exon13:c.A1010T:p.N337I,PXK:NM_001349525:exon13:c.A1010T:p.N337I,PXK:NM_001349526:exon13:c.A1010T:p.N337I,PXK:NM_001349532:exon13:c.A1010T:p.N337I,PXK:NM_001349533:exon13:c.A1010T:p.N337I,PXK:NM_001349534:exon13:c.A1010T:p.N337I,PXK:NM_001349535:exon13:c.A1010T:p.N337I,PXK:NM_001349536:exon13:c.A1010T:p.N337I,PXK:NM_001349537:exon13:c.A1010T:p.N337I,PXK:NM_001349538:exon13:c.A1010T:p.N337I,PXK:NM_001349539:exon13:c.A1010T:p.N337I,PXK:NM_001349540:exon13:c.A1010T:p.N337I,PXK:NM_001289096:exon14:c.A1322T:p.N441I,PXK:NM_001289100:exon14:c.A1322T:p.N441I,PXK:NM_001349490:exon14:c.A1322T:p.N441I,PXK:NM_001349500:exon14:c.A1322T:p.N441I,PXK:NM_001349522:exon14:c.A1322T:p.N441I,PXK:NM_001349524:exon14:c.A1322T:p.N441I,PXK:NM_001289095:exon15:c.A1370T:p.N457I,PXK:NM_001349491:exon15:c.A1010T:p.N337I,PXK:NM_001349494:exon15:c.A1373T:p.N458I,PXK:NM_001349495:exon15:c.A1373T:p.N458I,PXK:NM_001349496:exon15:c.A1370T:p.N457I,PXK:NM_001349497:exon15:c.A1370T:p.N457I,PXK:NM_001349501:exon15:c.A1373T:p.N458I,PXK:NM_001349502:exon15:c.A1370T:p.N457I,PXK:NM_001349510:exon15:c.A1373T:p.N458I,PXK:NM_001349511:exon15:c.A1373T:p.N458I,PXK:NM_001349512:exon15:c.A1373T:p.N458I,PXK:NM_001349514:exon15:c.A1370T:p.N457I,PXK:NM_001349515:exon15:c.A1370T:p.N457I,PXK:NM_001349516:exon15:c.A1373T:p.N458I,PXK:NM_001349517:exon15:c.A1370T:p.N457I,PXK:NM_001349518:exon15:c.A1370T:p.N457I,PXK:NM_001289098:exon16:c.A1421T:p.N474I,PXK:NM_001289099:exon16:c.A1172T:p.N391I,PXK:NM_001349488:exon16:c.A1421T:p.N474I,PXK:NM_001349492:exon16:c.A1421T:p.N474I,PXK:NM_001349493:exon16:c.A1421T:p.N474I,PXK:NM_001349498:exon16:c.A1361T:p.N454I,PXK:NM_001349499:exon16:c.A1421T:p.N474I,PXK:NM_001349503:exon16:c.A1421T:p.N474I,PXK:NM_001349504:exon16:c.A1421T:p.N474I,PXK:NM_001349506:exon16:c.A1421T:p.N474I,PXK:NM_001349507:exon16:c.A1421T:p.N474I,PXK:NM_001349508:exon16:c.A1421T:p.N474I,PXK:NM_001349509:exon16:c.A1421T:p.N474I,PXK:NM_001349519:exon16:c.A1421T:p.N474I,PXK:NM_001349520:exon16:c.A1421T:p.N474I,PXK:NM_001349527:exon16:c.A1421T:p.N474I,PXK:NM_017771:exon16:c.A1421T:p.N474I,PXK:NM_001349489:exon17:c.A1172T:p.N391I,PXK:NM_001349513:exon17:c.A1172T:p.N391I,PXK:NM_001349521:exon17:c.A1172T:p.N391I,PXK:NM_001349528:exon17:c.A1172T:p.N391I,PXK:NM_001349529:exon17:c.A1172T:p.N391I,PXK:NM_001349530:exon17:c.A1172T:p.N391I,PXK:NM_001349531:exon17:c.A1172T:p.N391I	.	425	1006	84	7	0	98	0.0464455	.	.	.	698265	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0061	0.00938498	0.0100	0.0005	0.0051	0.0001	0.0005	0.0071	0.0166	0.0396	0.0090361	1397	154602	rs140203295	0.0070	0.0071	0.0058	0.0083	0.0404	0.0069	0.0069	0.0393	0.0388	0.0008	0.0048	0.0152	0.0001	0.0014	0.0397	0.0048	0.0090	0.0404	0.0052	0.0052	0.0049	0.0054	0.0402	0.0049	0.0048	0.0356	0.0338	0.0005	0	0.0062	0.0193	0.0004	0.0011	0.0408	0.0055	0.0061	0.0402	0.189	0.41915	T	0.329	0.48336	T	0.003	0.35474	B	0.002	0.41396	B	0.090595	0.20368	N	0.575787	0.980644	0.25097	N	0.805	0.20218	L	2.97	0.50976	T	-1.47	0.97995	N	0.393	0.47115	-1.1302	0.01772	T	0.037	0.15943	T	10	0.0034009814	0.00059	T	.	.	.	0.101	0.28911	.	.	0.525991642533	0.52246	0.22060369571048527	0.21975	0.33564811506	0.35560	0.551083683968	0.46010	T	0.002897	0.40318	T	-0.432092	0.01440	T	-0.36417	0.37570	T	0.0238539316806345	0.01126	T	0.865113	0.57764	D	0.083946615	0.19406	0.05076319	0.08032	0.083946615	0.19406	0.05076319	0.08031	-3.109	0.11399	T	.	.	0.091	0.38906	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.187903	0.43297	21.7	0.9717033229360339	0.32673	0.91707	0.54093	D	AEFBI	0.308053	0.41475	N	-0.17860360165214	0.34027	1.937292	0.0645200009892415	0.42780	2.593573	0.999890105895091	0.45129	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.9	4.77	0.60425	3.456000	0.52764	5.312000	0.48266	0.741000	0.86335	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.7798:0.0:0.2202:0.0	3.751	0.08092	335	0.86220	Protein kinase domain;Protein kinase domain;.;Protein kinase domain;Protein kinase domain;.;Protein kinase domain;.;.	.	.	.	.	.	Likely benign	0	0	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	0.037261	0.020202	0.027174	0.046784	0.000000	0.051724	0.051829	0.053030	0.05	544.43	34	chr3	58410115	.	A	T	544.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.647;DP=387;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=-1.102;SOR=0.821	GT:AD:DP:GQ:PL	0/1:44,27:71:99:556,0,1089	9	0	1	0
chr3	65470460	65470460	T	C	exonic	MAGI1	.	nonsynonymous SNV	MAGI1:NM_001033057:exon5:c.A782G:p.H261R,MAGI1:NM_001365903:exon5:c.A785G:p.H262R,MAGI1:NM_001365904:exon5:c.A785G:p.H262R,MAGI1:NM_001365905:exon5:c.A785G:p.H262R,MAGI1:NM_004742:exon5:c.A782G:p.H261R,MAGI1:NM_015520:exon5:c.A782G:p.H261R	.	9	1511	1	1	0	3	0.000991736	.	.	.	2827542	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.035	.	0.0085	0.00219649	0.0071	0.0025	0.0037	0	0.0194	0.0095	0.0144	0.0010	0.0070762	1094	154602	rs113860090	0.0081	0.0081	0.0083	0.0079	0.0090	0.0080	0.0079	0.0088	0.0088	0.0010	0.0046	0.0002	0	0.0198	0.0024	0.0090	0.0072	0.0012	0.0069	0.0070	0.0067	0.0071	0.0093	0.0066	0.0064	0.0087	0.0085	0.0023	0	0.0069	0	0	0.0182	0	0.0093	0.0091	0.0008	0.232	0.39575	T	0.192	0.35970	T	0.0	0.29746	B	0.003	0.33945	B	0.001180	0.39978	N	0.279693	0.598862	0.38475	D	1.43	0.35840	L	0.06	0.61798	T	-2.4	0.56945	N	0.202	0.29774	-0.8504	0.51940	T	0.115	0.40897	T	10	0.0041942894	0.00083	T	.	.	.	0.035	0.08770	.	.	0.555054148054	0.55164	0.15127597034633572	0.15049	0.176201244815	0.19835	0.393121242523	0.24109	T	0.193805	0.54938	T	-0.430664	0.01469	T	-0.382	0.35488	T	0.0181390247442827	0.00536	T	.	.	.	.	.	.	.	.	.	.	.	-4.014	0.25172	T	.	.	0.072	0.09045	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.498243	0.32247	18.98	0.87250349242163694	0.17094	0.72337	0.35410	D	AEFI	0.164353	0.29073	N	-0.0691483130477358	0.38750	2.27448	-0.0549826536372779	0.37275	2.180328	0.101472811901019	0.16379	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.5	1.74	0.23636	0.627000	0.24200	0.699000	0.20831	0.644000	0.52426	0.997000	0.40164	1.000000	0.68203	0.997000	0.79791	0.0:0.1351:0.127:0.7379	6.848	0.23179	832	0.38914	.;.;Guanylate kinase/L-type calcium channel beta subunit;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.003550	0.005102	0.004087	0.000000	0.000000	0.000000	0.006211	0.003817	0.05	421.43	43	chr3	65470460	.	T	C	421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.181;DP=366;ExcessHet=0;FS=2.748;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.228;SOR=0.324	GT:AD:DP:GQ:PL	0/1:23,19:42:99:433,0,559	9	0	1	0
chr3	66380844	66380844	C	T	exonic	LRIG1	.	nonsynonymous SNV	LRIG1:NM_001377347:exon11:c.G1786A:p.V596I,LRIG1:NM_001377348:exon11:c.G1759A:p.V587I,LRIG1:NM_001377349:exon11:c.G1504A:p.V502I,LRIG1:NM_001377344:exon17:c.G2713A:p.V905I,LRIG1:NM_001377345:exon18:c.G2008A:p.V670I,LRIG1:NM_001377346:exon18:c.G2008A:p.V670I,LRIG1:NM_015541:exon18:c.G2788A:p.V930I	.	.	.	.	.	.	.	.	.	.	.	2211343	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.0197355843192	0.0002	0.000199681	0.0001	0.0002	0.0002	0.0003	0	0.0001	0	6.111e-05	0.0001035	16	154602	rs143941704	5.678e-05	5.678e-05	5.037e-05	6.326e-05	0.0003	4.677e-05	4.302e-05	0.0002	0.0001	0.0001	0.0003	0	7.557e-05	0	0	4.317e-05	0.0002	3.478e-05	0.0001	0.0001	8.995e-05	0.0001	0.0003	7.571e-05	6.277e-05	0.0001	8.431e-05	0.0002	0	0.0003	0	0	0	0	7.35e-05	0	0	0.695	0.04239	T	1.0	0.01155	T	0.034	0.44546	B	0.012	0.40572	B	0.496837	0.05068	N	1.305950	1	0.18878	N	1.615	0.41426	L	-0.26	0.68892	T	-0.2	0.10136	N	0.077	0.16168	-0.9899	0.32626	T	0.149	0.47575	T	10	0.03799829	0.02189	T	0.019736	0.42178	T	0.067	0.19503	.	.	0.361733483669	0.35779	0.027865798404779894	0.02736	0.0755267479925	0.08473	0.23621198535	0.02459	T	0.049261	0.28255	T	-0.356245	0.04347	T	-0.45601	0.27035	T	0.0260494340197127	0.01413	T	.	.	.	0.01684384	0.00226	0.020954192	0.00165	0.01684384	0.00226	0.020954192	0.00164	-4.137	0.25848	T	.	.	0.097	0.20702	B	.;.	.;.	0.539193	0.09077	5.861	0.56028345424208903	0.05465	0.20815	0.21179	N	AEFDBCI	0.045332	0.07401	N	-0.843527200321138	0.12209	0.5937671	-0.831278790240567	0.13738	0.7143168	0.999995724891619	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.91	3.12	0.34986	-0.011000	0.12659	-1.372000	0.05595	0.595000	0.32841	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7073:0.1437:0.149	7.467	0.26498	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1279.43	35	chr3	66380844	.	C	T	1279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.303;DP=426;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.769;SOR=0.629	GT:AD:DP:GQ:PL	0/1:47,55:102:99:1291,0,1038	9	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	21306.0	161	chr3	75730451	.	T	G	21306.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.248;DP=1190;ExcessHet=22.563;FS=6.109;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.37;MQRankSum=-6.108;QD=18.26;ReadPosRankSum=1.56;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,117:170:99:0|1:75730450_C_T:4753,0,1853:75730450	0	0	10	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	.	.	.	.	.	.	.	.	0.2	379.75	94	chr3	75730611	.	G	T	379.75	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.22;DP=666;ExcessHet=1.5895;FS=30.378;InbreedingCoeff=-0.2547;MLEAC=4;MLEAF=0.2;MQ=56.6;MQRankSum=-6.063;QD=1.27;ReadPosRankSum=-2.301;SOR=6.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,10:67:99:.:.:183,0,2293:.	6	0	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3032.01	154	chr3	75736884	.	G	GA	3032.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.024;DP=1489;ExcessHet=22.563;FS=2.546;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.59;MQRankSum=-6.777;QD=2.12;ReadPosRankSum=0.738;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:173,34:207:99:.:.:364,0,6402:.	0	0	10	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	.	.	.	.	.	.	.	.	0.5	11377.0	152	chr3	75736891	.	G	A	11377.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.179;DP=1494;ExcessHet=22.563;FS=2.868;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.49;MQRankSum=-8.968;QD=7.73;ReadPosRankSum=0.917;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:125,83:208:99:.:.:2324,0,4542:.	0	0	10	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	.	.	.	.	.	.	.	.	0.45	11538.0	171	chr3	75736920	.	C	A	11538.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.484;DP=1551;ExcessHet=15.1594;FS=2.12;InbreedingCoeff=-0.8184;MLEAC=9;MLEAF=0.45;MQ=56.17;MQRankSum=-7.049;QD=8.32;ReadPosRankSum=-0.079;SOR=0.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,81:209:99:0|1:75736920_C_A:2963,0,5087:75736920	1	0	9	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	.	.	.	.	.	.	.	.	0.45	10802.1	180	chr3	75736928	.	C	T	10802.1	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.91;DP=1530;ExcessHet=15.1594;FS=2.159;InbreedingCoeff=-0.819;MLEAC=9;MLEAF=0.45;MQ=55.62;MQRankSum=-7.245;QD=7.92;ReadPosRankSum=0.071;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,72:200:99:0|1:75736920_C_A:2638,0,5134:75736920	1	0	9	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	.	.	.	.	.	.	.	.	0.4286	4700.28	186	chr3	75736981	.	T	C	4700.28	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.497;DP=1403;ExcessHet=4.5998;FS=0.574;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.5;MQ=52.94;MQRankSum=-7.6;QD=6.02;ReadPosRankSum=-0.695;SOR=0.76	GT:AD:DP:GQ:PL	0/1:110,70:180:99:1499,0,2847	1	0	6	3
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	.	.	.	.	.	.	.	.	0.4	7273.34	218	chr3	75737012	.	C	T	7273.34	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.282;DP=1438;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6901;MLEAC=8;MLEAF=0.4;MQ=53.79;MQRankSum=-5.048;QD=6.21;ReadPosRankSum=1.1;SOR=0.722	GT:AD:DP:GQ:PL	0/1:88,72:160:99:1721,0,2527	2	0	8	0
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	.	.	.	.	.	.	.	.	0.45	10274.0	225	chr3	75737060	.	A	G	10274.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.615;DP=1524;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=54.04;MQRankSum=-5.089;QD=7.54;ReadPosRankSum=0.861;SOR=0.708	GT:AD:DP:GQ:PL	0/1:74,95:169:99:2137,0,2449	1	0	9	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	18634.0	209	chr3	75737092	.	C	T	18634.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.903;DP=1554;ExcessHet=22.563;FS=3.439;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.93;MQRankSum=-7.091;QD=12.08;ReadPosRankSum=1.29;SOR=0.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,94:171:99:0|1:75737092_C_T:3695,0,2950:75737092	0	0	10	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	18621.0	209	chr3	75737094	.	T	A	18621.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.506;DP=1548;ExcessHet=22.563;FS=4.367;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.04;MQRankSum=-7.138;QD=12.06;ReadPosRankSum=1.29;SOR=0.995	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,94:172:99:0|1:75737092_C_T:3692,0,2992:75737092	0	0	10	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	17689.0	206	chr3	75737105	.	T	A	17689.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.706;DP=1528;ExcessHet=22.563;FS=6.432;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.66;MQRankSum=-8.798;QD=11.61;ReadPosRankSum=0.99;SOR=1.146	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,92:171:99:0|1:75737092_C_T:3625,0,3040:75737092	0	0	10	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	15026.0	179	chr3	75737127	.	A	C	15026.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.995;DP=1458;ExcessHet=22.563;FS=6.735;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.36;MQRankSum=-9.527;QD=10.36;ReadPosRankSum=0.724;SOR=1.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,77:157:99:0|1:75737092_C_T:2992,0,3127:75737092	0	0	10	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	8633.98	146	chr3	75737163	.	CCTACATTCT	C	8633.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.329;DP=1221;ExcessHet=15.1594;FS=11.508;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.32;MQRankSum=-10.1;QD=8.13;ReadPosRankSum=-1.292;SOR=1.482	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,47:132:99:0|1:75737092_C_T:1718,0,3407:75737092	1	0	9	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	.	.	.	.	.	.	.	.	0.15	463.95	117	chr3	75737228	.	T	C	463.95	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.47;DP=1001;ExcessHet=0.7463;FS=19.425;InbreedingCoeff=-0.1905;MLEAC=3;MLEAF=0.15;MQ=57.66;MQRankSum=-8.581;QD=1.45;ReadPosRankSum=-2.284;SOR=2.9	GT:AD:DP:GQ:PL	0/1:86,12:98:99:191,0,3530	7	0	3	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	29055.0	242	chr3	75737519	.	G	A	29055.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.23;DP=1778;ExcessHet=22.563;FS=3.187;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.52;MQRankSum=-6.977;QD=17.01;ReadPosRankSum=0.822;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,152:228:99:.:.:5910,0,2680:.	0	0	10	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	33226.0	257	chr3	75737590	.	A	G	33226.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.639;DP=2000;ExcessHet=22.563;FS=0.523;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.83;MQRankSum=-11.54;QD=16.75;ReadPosRankSum=1.09;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,166:253:99:0|1:75737590_A_G:6638,0,3154:75737590	0	0	10	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	36674.0	275	chr3	75737608	.	T	C	36674.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.136;DP=2142;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.69;MQRankSum=-12.91;QD=17.15;ReadPosRankSum=0.045;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,177:276:99:0|1:75737590_A_G:7134,0,3624:75737590	0	0	10	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	37943.0	274	chr3	75737622	.	T	A	37943.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.327;DP=2188;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.99;MQRankSum=-12.64;QD=17.41;ReadPosRankSum=-0.408;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,184:279:99:0|1:75737590_A_G:7440,0,3431:75737590	0	0	10	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	36785.0	278	chr3	75737651	.	G	A	36785.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.29;DP=2144;ExcessHet=22.563;FS=1.096;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.76;MQRankSum=-11.17;QD=17.26;ReadPosRankSum=-0.326;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,176:272:99:0|1:75737590_A_G:7101,0,3501:75737590	0	0	10	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	34235.0	265	chr3	75737676	.	A	T	34235.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.48;DP=2005;ExcessHet=22.563;FS=1.748;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.4;MQRankSum=-9.806;QD=17.19;ReadPosRankSum=-0.156;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,144:243:99:0|1:75737590_A_G:5749,0,3724:75737590	0	0	10	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	.	.	.	.	.	.	.	.	0.5	17386.0	242	chr3	75737840	.	C	T	17386.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.182;DP=1956;ExcessHet=22.563;FS=9.369;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.03;MQRankSum=-4.376;QD=9.13;ReadPosRankSum=0.509;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,71:179:99:0|1:75737814_C_T:2632,0,4071:75737814	0	0	10	0
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	7087.02	239	chr3	75737881	.	T	C	7087.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.85;DP=1825;ExcessHet=15.1594;FS=14.307;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.68;MQRankSum=-7.284;QD=4.57;ReadPosRankSum=-3.421;SOR=1.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,37:151:99:0|1:75737881_T_C:972,0,4539:75737881	1	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	5707.98	242	chr3	75737891	.	G	GAAAT	5707.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.2;DP=1739;ExcessHet=15.1594;FS=17.592;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.4;MQRankSum=-8.904;QD=3.76;ReadPosRankSum=-3.116;SOR=1.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,28:147:99:0|1:75737881_T_C:764,0,4913:75737881	1	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	5470.98	235	chr3	75737893	.	A	ACTT	5470.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.239;DP=1724;ExcessHet=15.1594;FS=15.802;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.33;MQRankSum=-9.24;QD=3.64;ReadPosRankSum=-2.613;SOR=1.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,26:148:99:0|1:75737881_T_C:704,0,5018:75737881	1	0	9	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	.	.	.	.	.	.	.	.	0.45	3887.02	246	chr3	75738008	.	C	T	3887.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.756;DP=2102;ExcessHet=15.1594;FS=4.482;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.35;MQRankSum=-11.6;QD=2.07;ReadPosRankSum=2.5;SOR=1.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,41:214:99:0|1:75737994_T_C:1201,0,7060:75737994	1	0	9	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	.	.	.	.	.	.	.	.	0.4	2285.98	232	chr3	75738053	.	C	A	2285.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.929;DP=1985;ExcessHet=10.3881;FS=3.371;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.37;MQRankSum=-10.29;QD=1.38;ReadPosRankSum=-1.279;SOR=1.156	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,38:209:99:0|1:75737994_T_C:1081,0,7066:75737994	2	0	8	0
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	.	.	.	.	.	.	.	.	0.2	709.64	205	chr3	75738071	.	A	G	709.64	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.6;DP=1813;ExcessHet=1.5895;FS=5.078;InbreedingCoeff=-0.2392;MLEAC=4;MLEAF=0.2;MQ=57.56;MQRankSum=-9.725;QD=0.92;ReadPosRankSum=-1.306;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,26:197:99:0|1:75737994_T_C:577,0,7102:75737994	6	0	4	0
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	.	.	.	.	.	.	.	.	0.15	499.56	201	chr3	75738074	.	G	A	499.56	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.07;DP=1768;ExcessHet=0.7463;FS=7.183;InbreedingCoeff=-0.174;MLEAC=3;MLEAF=0.15;MQ=57.65;MQRankSum=-9.299;QD=0.85;ReadPosRankSum=-1.531;SOR=1.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,23:191:99:0|1:75737994_T_C:460,0,6985:75737994	7	0	3	0
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	.	.	.	.	.	.	.	.	0.1	421.2	201	chr3	75738077	.	A	C	421.2	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.795;DP=1759;ExcessHet=0.2348;FS=5.489;InbreedingCoeff=-0.1102;MLEAC=2;MLEAF=0.1;MQ=57.68;MQRankSum=-8.896;QD=1.32;ReadPosRankSum=-1.698;SOR=1.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,22:188:99:0|1:75737994_T_C:424,0,6904:75737994	8	0	2	0
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	.	.	.	.	.	.	.	.	0.05	70.43	201	chr3	75738100	.	T	C	70.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=1604;ExcessHet=0;FS=6.064;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.78;MQRankSum=-8.863;QD=0.42;ReadPosRankSum=-4.175;SOR=1.59	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,13:167:82:0|1:75737994_T_C:82,0,6427:75737994	9	0	1	0
chr3	75738346	75738346	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1277G:p.D426G,ZNF717:NM_001290208:exon5:c.A1277G:p.D426G,ZNF717:NM_001290209:exon5:c.A1127G:p.D376G,ZNF717:NM_001324027:exon5:c.A1277G:p.D426G	.	357	1164	1	0	0	1	0.000429369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00157043738241	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs879020387	0.0007	0.0007	0.0004	0.0010	0.0117	0.0007	0.0007	0.0111	0.0108	0	2.849e-05	0	5.744e-05	0	0.0002	2.81e-06	0.0008	0.0117	0.0004	0.0004	0.0002	0.0007	0.0132	0.0003	0.0003	0.0106	0.0097	0	0	0	0	0	0	0	0	0	0.0132	0.096	0.31088	T	0.072	0.43344	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.19	0.07353	T	-0.93	0.24898	N	0.146	0.14763	-0.9695	0.37304	T	0.012	0.04653	T	9	0.0047684014	0.00101	T	0.00157	0.02497	T	0.079	0.23065	.	.	0.0297737177859	0.01360	0.0025789429370471208	0.00239	.	.	0.440825641155	0.30690	T	.	.	.	-0.241313	0.15182	T	-0.584406	0.14154	T	0.124967762573498	0.14909	T	0.339966	0.07337	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.37198	B	.	.	0.693887	0.10624	7.327	0.94663330734589946	0.25280	0.00604	0.02691	N	AEFDBHCI	0.027213	0.02183	N	-0.978679924300545	0.09059	0.4272455	-1.15547001181155	0.06670	0.3218333	0.999960434078766	0.48965	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.75	-1.43	0.08418	-1.023000	0.03718	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2216:0.0:0.4486:0.3298	3.653	0.07747	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1595.43	220	chr3	75738346	.	T	C	1595.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.24;DP=1792;ExcessHet=0;FS=2.628;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.37;MQRankSum=3.84;QD=8.22;ReadPosRankSum=-1.443;SOR=0.785	GT:AD:DP:GQ:PL	0/1:127,67:194:99:1607,0,3673	9	0	1	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	.	.	.	.	.	.	.	.	0.4	2104.98	122	chr3	75739165	.	C	T	2104.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.256;DP=1095;ExcessHet=10.3881;FS=18.333;InbreedingCoeff=-0.6665;MLEAC=8;MLEAF=0.4;MQ=56.69;MQRankSum=-7.997;QD=2.39;ReadPosRankSum=-0.323;SOR=1.354	GT:AD:DP:GQ:PL	0/1:76,19:95:99:314,0,2177	2	0	8	0
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	.	.	.	.	.	.	.	.	0.45	4366.02	105	chr3	75739283	.	G	T	4366.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.947;DP=845;ExcessHet=15.1594;FS=2.771;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=54.79;MQRankSum=-4.843;QD=5.88;ReadPosRankSum=0.209;SOR=0.934	GT:AD:DP:GQ:PL	0/1:35,40:75:99:806,0,882	1	0	9	0
chr3	97876679	97876679	G	A	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.G5485A:p.V1829I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.01203	.	.	.	.	.	.	.	0.093532234	0.16559	T	.	.	.	.	.	.	.	0.649314703251	0.64640	0.02279940728365987	0.02231	.	.	.	.	.	0.002528	0.01914	T	-0.210633	0.19290	T	-0.540336	0.18263	T	.	.	.	0.630437	0.24556	T	0.0154797435	0.00141	0.0631296	0.12458	0.0154797435	0.00141	0.0631296	0.12458	-3.973	0.23398	T	.	.	0.076	0.06114	B	.	.	-0.174721	0.03221	0.538	0.62637516100819468	0.07014	0.01068	0.03958	N	AEFBI	.	.	.	.	.	.	.	.	.	6.49206290079249E-5	0.04366	0.162113	0.03585	0	0.084543	0.02171	0	0.183335	0.04453	0	0.24566	0.04862	0	0.0777541	0.17876	4.56	0.686	0.17179	-0.430000	0.07043	0.190000	0.15733	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.5109:0.0:0.4891:0.0	7.209	0.25101	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	40.37	40	chr3	97876679	.	G	A	40.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-4.093;DP=1061;ExcessHet=0.2348;FS=133.571;InbreedingCoeff=-0.1404;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.14;ReadPosRankSum=1.15;SOR=8.955	GT:AD:DP:GQ:PL	0/1:112,30:142:14:14,0,2443	7	0	2	1
chr3	97959130	97959130	G	A	exonic	RIOX2	.	nonsynonymous SNV	RIOX2:NM_001042533:exon4:c.C602T:p.P201L,RIOX2:NM_001261829:exon4:c.C602T:p.P201L,RIOX2:NM_032778:exon4:c.C602T:p.P201L,RIOX2:NM_153182:exon4:c.C602T:p.P201L	.	424	1076	20	2	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.480	0.0600294035795	0.0054	0.00279553	0.0057	0.0011	0.0086	0	0.0044	0.0077	0.0088	0.0018	0.0056791	878	154602	rs56183666	0.0069	0.0069	0.0070	0.0067	0.0102	0.0067	0.0067	0.0081	0.0075	0.0009	0.0080	0.0111	0	0.0037	0.0102	0.0077	0.0073	0.0012	0.0052	0.0052	0.0055	0.0050	0.0078	0.0049	0.0048	0.0073	0.0071	0.0011	0	0.0077	0.0101	0.0002	0.0041	0.0102	0.0078	0.0080	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	.	.	.	2.03	0.20959	T	-9.16	0.98474	D	0.911	0.91276	-0.5538	0.66642	T	0.172	0.51405	T	10	0.0103621185	0.00231	T	0.060029	0.67865	D	0.480	0.77077	.	.	0.677007972574	0.67426	0.8165847900631961	0.81614	0.419956848209	0.42533	0.541483700275	0.44656	T	0.194756	0.55062	T	-0.162868	0.26320	T	-0.000610659	0.70296	D	0.179403686056173	0.19197	T	0.957304	0.94010	D	0.9434746	0.95602	0.93115646	0.97174	0.9434746	0.95602	0.93115646	0.97174	-13.665	0.92184	D	.	.	0.565	0.68098	P	.;.;.;.	.;.;.;.	5.286213	0.88757	29.7	0.99909547267073862	0.97949	0.98958	0.89172	D	AEFDBI	0.862216	0.78045	D	1.01259695378206	0.96120	14.32271	0.944203309665823	0.97226	15.78445	0.999999999999989	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	9.090000	0.93496	11.650000	0.93875	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.845	0.96701	798	0.45050	JmjC domain|JmjC domain;JmjC domain|JmjC domain;.;JmjC domain|JmjC 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	0.015152	0.004076	0.002941	0.000000	0.000000	0.000000	0.007576	0.05	714.43	41	chr3	97959130	.	G	A	714.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.555;DP=381;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.24;SOR=0.496	GT:AD:DP:GQ:PL	0/1:28,29:57:99:726,0,678	9	0	1	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	1170.79	50	chr3	100775333	.	T	C	1170.79	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.379;DP=401;ExcessHet=15.1594;FS=290.87;InbreedingCoeff=-0.7983;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=3.26;ReadPosRankSum=0.5;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,18:43:99:.:.:138,0,369:.	1	0	9	0
chr3	101726726	101726726	G	A	exonic	CEP97	.	nonsynonymous SNV	CEP97:NM_001303401:exon2:c.G176A:p.R59Q,CEP97:NM_024548:exon2:c.G176A:p.R59Q	.	443	1058	20	1	0	22	0.01029	.	.	.	697731	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.011	.	0.0062	0.00359425	0.0049	0.0018	0.0032	0	0.0021	0.0070	0.0068	0.0032	0.0049029	758	154602	rs111912421	0.0055	0.0055	0.0054	0.0055	0.0149	0.0054	0.0053	0.0123	0.0113	0.0009	0.0047	0.0101	0	0.0023	0.0149	0.0059	0.0055	0.0038	0.0043	0.0043	0.0045	0.0040	0.0061	0.0040	0.0039	0.0057	0.0055	0.0012	0	0.0055	0.0092	0	0.0018	0.0170	0.0061	0.0099	0.0041	0.488	0.08042	T	0.399	0.17217	T	0.0	0.22331	B	0.001	0.11217	B	0.086353	0.20592	N	0.522230	0.999948	0.19238	N	0.26	0.09897	N	1.85	0.24472	T	-0.43	0.15782	N	0.169	0.19190	-1.0270	0.21429	T	0.020	0.08220	T	10	0.0071690083	0.00163	T	.	.	.	0.011	0.01250	.	.	0.126345400529	0.12197	0.15193629144885137	0.15115	0.154575907448	0.17459	0.223914563656	0.01548	T	0.025059	0.18811	T	-0.608585	0.00129	T	-0.641839	0.09536	T	0.00445689653772084	0.00048	T	0.712229	0.32360	T	0.028845077	0.02286	0.029281542	0.01249	0.023598185	0.01112	0.029281542	0.01249	-8.115	0.61852	D	0.14944447779688108	0.17476	0.059	0.02927	B	.;.	.;.	1.445491	0.18657	13.86	0.96849303875392245	0.31335	0.40495	0.26449	N	AEFGBI	0.054901	0.10023	N	-0.747383033918041	0.14705	0.7347482	-0.603242862989842	0.19408	1.041218	0.999128319930685	0.38507	0.651	0.46895	0	0.685571	0.66316	0	0.65145	0.50148	0	0.563494	0.21769	0	.	.	4.82	1.21	0.20240	0.393000	0.20543	-0.639000	0.08086	-0.113000	0.14837	0.855000	0.30528	0.000000	0.08366	0.976000	0.56436	0.5956:0.0:0.4044:0.0	8.439	0.31967	788	0.46569	.;.	.	.	.	.	.	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	0.009596	0.000000	0.013587	0.005848	0.000000	0.017241	0.012270	0.007576	0.05	582.43	35	chr3	101726726	.	G	A	582.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=348;ExcessHet=0;FS=1.309;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=1.27;SOR=0.382	GT:AD:DP:GQ:PL	0/1:16,24:40:99:594,0,369	9	0	1	0
chr3	108916115	108916115	T	C	exonic	GUCA1C	.	nonsynonymous SNV	GUCA1C:NM_001363884:exon3:c.A454G:p.T152A	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0139641451415	0.0005	0.000399361	0.0011	0.0002	0.0013	0	0.0002	0.0015	0.0022	0.0008	0.0010543	163	154602	rs201266111	0.0011	0.0011	0.0011	0.0012	0.0050	0.0011	0.0011	0.0036	0.0031	0.0004	0.0018	0.0085	0	1.872e-05	0.0050	0.0011	0.0014	0.0008	0.0012	0.0012	0.0012	0.0011	0.0016	0.0010	0.0010	0.0011	0.0010	0.0002	0.0197	0.0016	0.0086	0	0	0	0.0012	0.0057	0.0006	0.045	0.40832	D	0.351	0.19480	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	-0.16	0.65378	T	-0.22	0.10480	N	0.056	0.03283	-0.9838	0.34116	T	0.103	0.37844	T	8	0.004726976	0.00099	T	0.013964	0.33748	T	0.056	0.15993	.	.	0.0762999501168	0.06990	.	.	.	.	.	.	.	.	.	.	-0.626544	0.00100	T	-0.680027	0.06982	T	0.00161427654136569	0.00016	T	0.193481	0.02080	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.09239	B	.;.	.;.	-0.452114	0.02026	0.182	0.36907137052945782	0.02401	0.01791	0.05598	N	AEFBI	0.056173	0.10363	N	-1.63764120244788	0.01088	0.0472323	-1.77910658445067	0.00828	0.03699592	0.310268447475888	0.19279	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.26	-8.51	0.00804	-1.373000	0.02675	-5.303000	0.01769	-1.785000	0.00646	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.4304:0.1762:0.2291:0.1643	0.895	0.01181	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	.	.	.	.	.	.	.	.	0.1	3315.14	33	chr3	108916115	.	T	C	3315.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.23;DP=571;ExcessHet=0.2348;FS=2.526;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.935;SOR=0.562	GT:AD:DP:GQ:PL	0/1:89,72:161:99:1665,0,2075	8	0	2	0
chr3	119191030	119191030	A	T	exonic	UPK1B	.	nonsynonymous SNV	UPK1B:NM_006952:exon5:c.A394T:p.N132Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.0934484985079	.	.	4.942e-05	0	0	0	0	5.994e-05	0.0011	6.056e-05	3.88e-05	6	154602	rs774210812	2.121e-05	2.121e-05	1.77e-05	2.475e-05	0.0003	1.52e-05	1.324e-05	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.158e-05	6.623e-05	1.159e-05	2.628e-05	2.627e-05	3.854e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.545e-05	0	0	0	0	2.939e-05	0	0.0002	0.007	0.59928	D	0.05	0.49942	T	0.82	0.51088	P	0.378	0.46845	B	0.196114	0.16720	N	0.626027	0.923958	0.27226	N	0.55	0.14455	N	-2.16	0.86549	D	-1.22	0.32387	N	0.429	0.58458	-0.3018	0.74935	T	0.471	0.79647	T	10	0.24065053	0.41227	T	0.093448	0.76075	D	0.391	0.70684	0.401	0.43081	0.843998760317	0.84250	0.6643205689706699	0.66369	0.226483481589	0.25203	0.411198854446	0.26622	T	0.131211	0.47116	T	-0.0775445	0.40114	T	-0.192798	0.55328	T	0.195668131113052	0.20173	T	0.772623	0.40374	T	0.08815765	0.20557	0.086981356	0.20187	0.08815765	0.20556	0.086981356	0.20186	-4.664	0.32965	T	.	.	0.097	0.31279	B	.;.;.;.;.	.;.;.;.;.	3.601937	0.50884	23.0	0.99290657499733503	0.58255	0.82754	0.41939	D	AEFBI	0.238488	0.36060	N	0.263608699085271	0.54315	3.597383	0.333440628158346	0.57516	3.917552	0.999964136725864	0.48965	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.55	4.33	0.51083	2.767000	0.47321	7.865000	0.71651	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.6032:0.311:0.0858:0.0	5.714	0.17219	366	0.84579	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	972.43	36	chr3	119191030	.	A	T	972.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.117;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=-1.522;SOR=0.725	GT:AD:DP:GQ:PL	0/1:65,48:113:99:984,0,1672	9	0	1	0
chr3	119814995	119814995	G	A	exonic	NR1I2	.	nonsynonymous SNV	NR1I2:NM_003889:exon6:c.G811A:p.D271N,NR1I2:NM_022002:exon6:c.G928A:p.D310N,NR1I2:NM_033013:exon6:c.G700A:p.D234N	.	.	.	.	.	.	.	.	.	.	.	2759788	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.855	0.545245171528	7.7e-05	0.000199681	7.488e-05	9.911e-05	0.0003	0	0	7.585e-05	0	0	7.12e-05	11	154602	rs144833620	8.414e-05	8.414e-05	7.351e-05	9.488e-05	0.0005	7.203e-05	6.75e-05	0.0003	0.0002	0.0005	0.0002	0	0	0	0.0005	7.734e-05	0.0001	0	6.566e-05	6.561e-05	0.0001	2.685e-05	0.0001	3.514e-05	2.615e-05	5.842e-05	4.239e-05	2.407e-05	0	6.533e-05	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	0.000002	0.62929	D	0.098200	0.999999	0.58761	D	3.315	0.90654	M	-8.36	0.99938	D	-4.71	0.79915	D	0.9	0.90476	0.848	0.95002	D	0.997	0.99928	D	10	0.905468	0.89911	D	0.545245	0.95784	D	0.855	0.95544	.	.	0.960891510894	0.96047	0.8852478564489741	0.88493	0.455770394439	0.45246	0.656468987465	0.60904	T	0.784724	0.94349	D	0.015204	0.53733	T	0.0900397	0.76249	D	0.930352389812469	0.59501	D	0.923708	0.85835	D	0.49181747	0.66611	0.297969	0.55831	0.49181747	0.66612	0.297969	0.55830	-12.655	0.87892	D	.	.	0.716	0.74401	P	.;.;.;.;.	.;.;.;.;.	5.454349	0.91089	32	0.99921563831966842	0.98787	0.98673	0.85416	D	AEFDBI	0.970564	0.99280	D	0.89216515797768	0.91371	10.84977	0.791272525444374	0.89178	9.87033	0.99999863292187	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.31	4.31	0.50718	7.868000	0.85503	11.529000	0.93080	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:0.0:1.0:0.0	14.655	0.68436	694	0.58444	Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain;.;.;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	761.43	38	chr3	119814995	.	G	A	761.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.708;DP=442;ExcessHet=0;FS=5.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=0.054;SOR=0.628	GT:AD:DP:GQ:PL	0/1:49,35:84:99:773,0,1287	9	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	993.31	120	chr3	121697608	.	C	T	993.31	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.669;DP=961;ExcessHet=7.0302;FS=290.798;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.85;SOR=11.255	GT:AD:DP:GQ:PL	0/1:50,25:75:73:73,0,721	0	0	7	3
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	.	.	.	.	.	.	.	.	0.45	1586.91	59	chr3	128055734	.	T	C	1586.91	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.356;DP=621;ExcessHet=15.1594;FS=117.441;InbreedingCoeff=-0.8095;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=2.85;ReadPosRankSum=0.678;SOR=9.795	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,14:60:13:.:.:13,0,868:.	1	0	9	0
chr3	129827985	129827985	T	C	exonic	TMCC1	.	nonsynonymous SNV	TMCC1:NM_001128224:exon3:c.A52G:p.K18E,TMCC1:NM_001349268:exon3:c.A394G:p.K132E,TMCC1:NM_001017395:exon4:c.A394G:p.K132E,TMCC1:NM_001349264:exon4:c.A394G:p.K132E,TMCC1:NM_001349265:exon4:c.A394G:p.K132E,TMCC1:NM_001349270:exon4:c.A52G:p.K18E,TMCC1:NM_001349263:exon5:c.A394G:p.K132E,TMCC1:NM_001349266:exon5:c.A394G:p.K132E,TMCC1:NM_001349269:exon5:c.A52G:p.K18E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0166916180892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	5.445e-06	1.375e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	1.872e-05	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.59928	D	0.51	0.21411	T	0.734	0.42776	P	0.187	0.36167	B	0.000003	0.62929	D	0.058426	0.996273	0.43112	D	0.805	0.20218	L	1.15	0.57575	T	-0.78	0.66549	N	0.438	0.55799	-0.9603	0.39124	T	0.114	0.40559	T	10	0.22588563	0.39429	T	0.016692	0.38065	T	0.060	0.17295	0.323	0.30387	0.652936626075	0.65004	0.37327421740381683	0.37241	1.28093230965	0.82524	0.662895917892	0.61823	T	0.02814	0.36522	T	0.00692303	0.52606	T	-0.227832	0.51982	T	0.486434002344354	0.32133	T	0.810419	0.49290	T	0.24944204	0.47939	0.25663978	0.51367	0.24944204	0.47939	0.25663978	0.51366	-2.425	0.05288	T	.	.	0.752	0.93538	P	.;.;.;.	.;.;.;.	2.929833	0.38917	20.8	0.99758912241224762	0.84851	0.91087	0.52834	D	ALL	0.710385	0.66416	D	0.310489620421139	0.56686	3.833774	0.43917030407722	0.64024	4.648444	0.999999999684746	0.74766	0.706298	0.61202	0	0.369648	0.05902	2	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.98	5.98	0.97147	5.626000	0.67453	5.020000	0.46738	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1408:0.8592	12.334	0.54381	872	0.31118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1820.43	37	chr3	129827985	.	T	C	1820.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.54;DP=546;ExcessHet=0;FS=4.361;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.466;SOR=0.979	GT:AD:DP:GQ:PL	0/1:107,74:181:99:1832,0,2640	9	0	1	0
chr3	138684790	138684790	T	C	exonic	PIK3CB	.	nonsynonymous SNV	PIK3CB:NM_001256045:exon6:c.A686G:p.N229S,PIK3CB:NM_006219:exon17:c.A2150G:p.N717S	.	426	1083	12	1	0	14	0.00642202	.	.	.	720210	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.092	0.0159663619193	0.0007	0.00119808	0.0017	0.0003	0.0010	0	0	0.0013	0.0034	0.0060	0.0014295	221	154602	rs74701669	0.0011	0.0011	0.0009	0.0013	0.0094	0.0011	0.0010	0.0074	0.0067	0.0005	0.0013	0.0095	2.52e-05	1.873e-05	0.0094	0.0006	0.0020	0.0053	0.0010	0.0010	0.0009	0.0011	0.0046	0.0009	0.0008	0.0031	0.0026	0.0003	0	0.0010	0.0127	0	0	0.0102	0.0008	0.0019	0.0046	0.681	0.09776	T	0.487	0.11656	T	0.007	0.14184	B	0.013	0.16460	B	0.000000	0.84330	D	0.055008	0.999995	0.58761	D	1.2	0.30300	L	-1.4	0.80474	T	-1.23	0.37759	N	0.116	0.10483	-0.6587	0.62333	T	0.300	0.67157	T	10	0.009204358	0.00208	T	0.015966	0.36990	T	0.294	0.61388	.	.	0.382607109125	0.37878	0.062173149661151304	0.06157	0.395795623971	0.40707	0.562058925629	0.47558	T	0.381113	0.74350	T	-0.471124	0.00836	T	-0.447871	0.27933	T	0.0133927743567062	0.00242	T	0.746125	0.53946	T	0.16062127	0.36015	0.23222423	0.48377	0.16062127	0.36014	0.23222423	0.48376	-7.197	0.55460	T	.	.	0.068	0.04806	B	.;.;.	.;.;.	2.383321	0.30594	18.49	0.93789062271410251	0.23751	0.90529	0.51780	D	AEFBI	0.317922	0.42178	N	-0.238463717294922	0.31567	1.771306	-0.00289457022091924	0.39586	2.349295	0.999999331985756	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.78	5.78	0.91418	1.947000	0.39919	6.176000	0.54561	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.099	0.80961	868	0.31772	PI3Kbeta, catalytic domain;PI3Kbeta, catalytic domain;PI3Kbeta, 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	0	0	1	0	0.009577	0.010101	0.005435	0.017544	0.050000	0.008621	0.012270	0.015152	0.05	407.43	35	chr3	138684790	.	T	C	407.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.21;DP=279;ExcessHet=0;FS=1.475;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.323;SOR=0.382	GT:AD:DP:GQ:PL	0/1:14,18:32:99:419,0,377	9	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	.	.	.	.	.	.	.	.	0.3333	1833.49	139	chr3	155853645	.	G	C	1833.49	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-3.101;DP=1064;ExcessHet=4.5998;FS=169.181;InbreedingCoeff=-0.4661;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.03;ReadPosRankSum=1.44;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,11:107:23:0|1:155853645_G_C:23,0,3615:155853645	3	0	6	1
chr3	155853646	155853646	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C352T:p.P118S,SLC33A1:NM_001363883:exon1:c.C352T:p.P118S,SLC33A1:NM_004733:exon1:c.C352T:p.P118S	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.884	0.26441884066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3.19	0.88972	M	-1.38	0.80301	T	-7.83	0.96005	D	0.908	0.90932	0.736	0.93619	D	0.747	0.91359	D	10	0.9726635	0.96917	D	0.264419	0.89636	D	0.884	0.96614	0.878	0.96734	0.965889320013	0.96552	0.9090685925036052	0.90880	2.253141148	0.96121	0.804085373878	0.82587	D	0.791811	0.94599	D	0.429981	0.91531	D	0.379861	0.91426	D	0.999662041664124	0.98390	D	0.999705	0.99908	D	0.9068161	0.92000	0.9047807	0.95316	0.9068161	0.92001	0.9047807	0.95317	-12.527	0.87323	D	0.973445658806593	0.99205	0.989	0.94165	P	.;.;.;.	.;.;.;.	5.407850	0.90534	31	0.99921391491893274	0.98787	0.94332	0.60828	D	AEFDBCI	.	.	.	0.924929507467059	0.92926	11.71334	0.845487219852171	0.92750	11.60935	0.999999999962498	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	4.67	0.58089	9.628000	0.97812	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1307:0.8693:0.0	16.551	0.84321	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	.	.	.	.	.	.	.	.	0.15	330.74	139	chr3	155853646	.	G	A	330.74	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.576;DP=785;ExcessHet=0.7463;FS=110.027;InbreedingCoeff=-0.1667;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=1.52;SOR=8.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,11:107:23:0|1:155853645_G_C:23,0,3615:155853645	7	0	3	0
chr3	170293418	170293418	A	G	exonic	PRKCI	.	nonsynonymous SNV	PRKCI:NM_002740:exon14:c.A1327G:p.M443V	.	426	1095	1	0	0	1	0.000456413	.	.	.	2264322	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.294	0.0497275499708	.	0.000199681	3.295e-05	0	0	0.0001	0	4.496e-05	0	0	3.23e-05	5	154602	rs184216798	3.695e-05	3.694e-05	3.54e-05	3.851e-05	0.0006	2.895e-05	2.593e-05	0.0004	0.0003	0	0	0	0.0006	0	0	2.429e-05	1.656e-05	3.478e-05	4.602e-05	4.594e-05	1.286e-05	8.07e-05	0.0010	2.11e-05	1.527e-05	0.0004	0.0002	0	0	0	0	0.0010	0	0	2.94e-05	0	0	0.008	0.58626	D	0.068	0.44106	T	0.049	0.22227	B	0.027	0.21085	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.345	0.11182	N	1.89	0.23688	T	-2.31	0.51319	N	0.83	0.82559	-1.0555	0.12908	T	0.032	0.13942	T	9	0.54535645	0.63952	D	0.049728	0.63936	D	0.294	0.61388	.	.	0.867696279212	0.86641	0.8425775074444146	0.84218	1.72783042209	0.90689	0.886914432049	0.94870	D	0.366883	0.73205	T	0.0315702	0.55933	T	0.0720004	0.75045	D	0.223390521621338	0.21632	T	0.939806	0.77272	D	0.6635247	0.76087	0.46051735	0.68666	0.6635247	0.76089	0.46051735	0.68667	-14.724	0.95172	D	.	.	0.609	0.69251	P	.	.	4.178258	0.62878	24.5	0.99391852318847229	0.62383	0.98113	0.79708	D	AEFBI	0.871496	0.79293	D	-0.133785820280514	0.35926	2.069931	0.0663386931468414	0.42868	2.600601	0.995373204421519	0.34093	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.95	4.95	0.64894	8.947000	0.92735	11.246000	0.90584	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.829000	0.39076	1.0:0.0:0.0:0.0	14.925	0.70512	808	0.43318	Protein kinase domain|Protein kinase domain|Protein kinase domain|Atypical protein kinase C iota type, 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	320.43	35	chr3	170293418	.	A	G	320.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.576;DP=357;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.16;ReadPosRankSum=-0.224;SOR=0.631	GT:AD:DP:GQ:PL	0/1:35,17:52:99:332,0,848	9	0	1	0
chr3	175097119	175097119	G	A	exonic	NAALADL2	.	nonsynonymous SNV	NAALADL2:NM_207015:exon2:c.G373A:p.V125I	.	434	1053	34	1	0	36	0.0168067	.	.	.	2825066	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.015	0.00447888518192	0.0035	0.00259585	0.0038	0.0011	0.0018	0.0001	0.0011	0.0040	0.0078	0.0083	0.0037063	573	154602	rs150099163	0.0048	0.0049	0.0047	0.0050	0.0205	0.0047	0.0047	0.0175	0.0163	0.0007	0.0018	0.0010	0.0001	0.0008	0.0205	0.0052	0.0048	0.0085	0.0027	0.0027	0.0027	0.0026	0.0066	0.0025	0.0024	0.0048	0.0042	0.0009	0	0.0014	0.0003	0.0002	0.0010	0.0102	0.0043	0.0038	0.0066	0.771	0.06361	T	0.854	0.03467	T	0.0	0.02946	B	0.0	0.01387	B	0.105542	0.19653	N	0.429836	0.998641	0.22015	N	-0.345	0.03330	N	1.55	0.32238	T	0.77	0.04533	N	0.055	0.02658	-0.9998	0.29973	T	0.025	0.10733	T	10	0.0059213936	0.00133	T	0.004479	0.11000	T	0.015	0.02232	.	.	0.252681307341	0.24864	0.21323671557192497	0.21239	0.00554430502613	0.00483	0.357524544001	0.19025	T	5.84E-4	0.00238	T	-0.72242	0.00027	T	-0.804651	0.01788	T	0.000693492399160385	0.00006	T	.	.	.	0.0219331	0.00824	0.025898132	0.00653	0.0219331	0.00824	0.025898132	0.00653	-3.954	0.23113	T	.	.	0.060	0.01348	B	.;.	.;.	1.754489	0.22316	15.57	0.7172783565237294	0.09728	0.20340	0.21005	N	AEFI	0.018937	0.00614	N	-1.03140614615359	0.07958	0.3714528	-0.89515998452017	0.12208	0.6266306	1.16264531551251E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.72	0.72	0.17368	0.118000	0.15436	0.831000	0.21948	-0.172000	0.11096	0.716000	0.28781	0.308000	0.24257	0.862000	0.40904	0.4399:0.3354:0.0925:0.1322	3.534	0.07341	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	1	0	0.020645	0.010101	0.021739	0.043860	0.000000	0.051724	0.006098	0.022727	0.05	1555.43	111	chr3	175097119	.	G	A	1555.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.817;DP=980;ExcessHet=0;FS=4.851;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=1.49;SOR=0.417	GT:AD:DP:GQ:PL	0/1:81,71:152:99:1567,0,1917	9	0	1	0
chr3	179240022	179240022	T	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_001163677:exon4:c.A496G:p.T166A	.	763	722	33	4	0	41	0.0276094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0035	0.00698882	0.0188	0	0.0122	0.0032	0.0006	0.0105	0	0.0389	0.0034088	527	154602	rs184550595	0.0073	0.0071	0.0063	0.0084	0.0414	0.0072	0.0072	0.0402	0.0397	0.0008	0.0041	0.0289	0.0003	0.0011	0.0301	0.0050	0.0094	0.0414	0.0056	0.0056	0.0049	0.0064	0.0441	0.0053	0.0052	0.0393	0.0374	0.0013	0	0.0071	0.0326	0.0004	0.0011	0.0170	0.0047	0.0133	0.0441	0.157	0.23997	T	0.038	0.51421	D	.	.	.	.	.	.	.	.	.	.	0.99799	0.81001	N	.	.	.	2.26	0.17596	T	-0.81	0.22294	N	0.111	0.09772	-1.0142	0.25593	T	0.024	0.10374	T	9	0.0035863519	0.00065	T	.	.	.	0.061	0.17616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562205	0.00246	T	-0.551777	0.17155	T	0.012226413319391	0.00197	T	0.29997	0.05606	T	.	.	.	.	.	.	.	.	-3.779	0.20491	T	.	.	0.137	0.29941	B	.	.	1.620727	0.20700	14.87	0.9940360828791398	0.62934	0.83452	0.42568	D	AEFGI	0.206643	0.33289	N	-0.0184429246067715	0.41021	2.446306	0.0663263132403697	0.42868	2.60055	0.677897955158269	0.22446	0.643511	0.44296	0	0.688494	0.66719	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.35	4.35	0.51454	3.584000	0.53680	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	11.973	0.52364	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019330	0.005376	0.009615	0.009009	0.000000	0.000000	0.018750	0.050000	0.1	816.14	33	chr3	179240022	.	T	C	816.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.31;DP=335;ExcessHet=0.2348;FS=5.395;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.99;MQRankSum=0;QD=12.56;ReadPosRankSum=1.27;SOR=1.416	GT:AD:DP:GQ:PL	0/1:16,13:29:99:321,0,397	8	0	2	0
chr3	184054817	184054817	G	A	exonic	HTR3C	.	nonsynonymous SNV	HTR3C:NM_130770:exon2:c.G164A:p.R55H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.433	0.0422755133101	7.7e-05	0.000399361	2.485e-05	0.0002	8.64e-05	0	0	0	0	0	3.23e-05	5	154602	rs369321709	2.258e-05	2.326e-05	2.178e-05	2.338e-05	0.0001	1.61e-05	1.417e-05	4.36e-05	2.768e-05	5.977e-05	0.0001	0	0	0	0	2.069e-05	3.313e-05	1.16e-05	4.597e-05	4.593e-05	2.57e-05	6.716e-05	0.0002	2.108e-05	1.526e-05	3.243e-05	1.911e-05	9.626e-05	0	0.0001	0	0	0	0	0	0	0.0002	0.04	0.42199	D	0.001	0.83351	D	0.403	0.34918	B	0.221	0.37837	B	0.000908	0.41128	D	0.201300	0.989419	0.24298	N	3.19	0.88972	M	-1.7	0.83072	D	-3.32	0.66085	D	0.364	0.40565	-0.1157	0.79735	T	0.593	0.85434	D	10	0.29142284	0.46721	T	0.042276	0.60377	D	0.433	0.73879	.	.	0.827418136221	0.82578	0.36468861088352944	0.36382	0.318795421449	0.34097	0.20433242619	0.00593	T	0.428059	0.77733	T	-0.138832	0.30077	T	-0.20053	0.54597	T	0.456204384565353	0.31025	T	0.720728	0.33361	T	0.1659983	0.36908	0.14672334	0.34751	0.1659983	0.36907	0.14672334	0.34750	-8.827	0.66576	D	.	.	0.123	0.25882	B	.	.	2.985836	0.39842	21.0	0.99906208976484978	0.97651	0.86226	0.45466	D	AEFBI	0.239623	0.36155	N	0.17117969647644	0.49818	3.178137	0.145030611957613	0.46881	2.926812	0.0356758576324654	0.14211	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	2.64	0.30504	3.273000	0.51326	0.317000	0.17144	0.676000	0.76740	0.906000	0.31575	0.000000	0.08366	0.905000	0.44082	0.1957:0.0:0.8042:0.0	8.223	0.30714	296	0.88164	Neurotransmitter-gated ion-channel ligand-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	.	.	.	.	.	.	.	.	0.05	3000.43	34	chr3	184054817	.	G	A	3000.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=552;ExcessHet=0;FS=2.909;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=2.04;SOR=0.56	GT:AD:DP:GQ:PL	0/1:107,125:232:99:3012,0,2291	9	0	1	0
chr3	185491625	185491625	C	T	exonic	TMEM41A	.	nonsynonymous SNV	TMEM41A:NM_080652:exon5:c.G707A:p.G236E	.	432	1052	37	1	0	39	0.0181988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.657	.	0.0069	0.00379393	0.0082	0.0022	0.0056	0.0001	0.0077	0.0114	0.0066	0.0055	0.0081823	1265	154602	rs139252054	0.0095	0.0095	0.0095	0.0094	0.0170	0.0093	0.0093	0.0143	0.0133	0.0016	0.0072	0.0037	7.557e-05	0.0057	0.0170	0.0107	0.0091	0.0059	0.0072	0.0072	0.0079	0.0065	0.0111	0.0069	0.0067	0.0104	0.0102	0.0022	0	0.0071	0.0023	0.0002	0.0067	0.0340	0.0111	0.0161	0.0048	0.002	0.72154	D	0.004	0.74150	D	0.984	0.60733	D	0.901	0.63994	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.885	0.83555	M	.	.	.	-5.56	0.86296	D	0.706	0.70966	-0.5044	0.68490	T	0.326	0.69479	T	9	0.010818124	0.00239	T	.	.	.	0.657	0.87135	.	.	0.213573922156	0.20996	0.8932037824184267	0.89290	0.791747000149	0.65820	0.610706984997	0.54416	T	0.213096	0.57432	T	0.121708	0.66543	D	0.412437	0.92509	D	0.0361814832827991	0.03013	T	0.936406	0.76145	D	0.8896424	0.90477	0.90151453	0.95084	0.8896424	0.90478	0.90151453	0.95084	-14.974	0.95791	D	.	.	0.955	0.87405	P	.	.	4.723609	0.76007	26.4	0.99766917449297388	0.85583	0.98004	0.78799	D	AEFBCI	0.889250	0.82314	D	0.695656378278875	0.79348	7.058689	0.722991854365043	0.84124	8.205515	1.0	0.98316	0.732398	0.92422	0	0.723133	0.82719	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	6.08	6.08	0.98982	5.994000	0.70296	4.874000	0.45597	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	20.665	0.99682	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.025253	0.019022	0.014620	0.000000	0.000000	0.009146	0.011364	0.05	782.43	35	chr3	185491625	.	C	T	782.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.139;DP=410;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=-1.587;SOR=0.764	GT:AD:DP:GQ:PL	0/1:67,35:102:99:794,0,1740	9	0	1	0
chr3	186722491	186722491	G	A	exonic	KNG1	.	nonsynonymous SNV	KNG1:NM_000893:exon3:c.G361A:p.V121M,KNG1:NM_001102416:exon3:c.G361A:p.V121M,KNG1:NM_001166451:exon3:c.G361A:p.V121M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0112729784093	.	0.000199681	6.787e-05	0	0	0	0	1.545e-05	0	0.0004	5.82e-05	9	154602	rs578110004	3.079e-05	3.078e-05	2.042e-05	4.126e-05	0.0004	2.347e-05	2.095e-05	0.0003	0.0002	0	0	3.826e-05	0	1.873e-05	0	3.597e-06	9.935e-05	0.0004	1.97e-05	1.969e-05	1.285e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	0	0	0.0006	0.013	0.55530	D	0.016	0.74150	D	0.998	0.73220	D	0.968	0.71741	D	0.109073	0.19500	N	0.445967	1	0.08975	N	2.765	0.80766	M	2.47	0.14783	T	-1.67	0.42191	N	0.412	0.47208	-1.0689	0.09657	T	0.099	0.37009	T	10	0.104370594	0.19239	T	0.011273	0.28723	T	0.088	0.25558	0.367	0.37524	0.331619326243	0.32766	0.25140046600629784	0.25054	0.36538535664	0.38135	0.438575178385	0.30382	T	0.490692	0.81538	T	-0.366603	0.03769	T	-0.434375	0.29441	T	0.291690072232837	0.24660	T	0.937906	0.76702	D	0.057939854	0.11595	0.09553401	0.22662	0.057939854	0.11595	0.09553401	0.22661	-7.61	0.58381	D	.	.	0.209	0.47848	B	.;.;.;.;.	.;.;.;.;.	2.830602	0.37313	20.5	0.99764380220265925	0.85335	0.17293	0.19774	N	AEFDGBHCI	0.660581	0.63110	D	-0.0363140040362424	0.40216	2.384542	-0.253276911512204	0.29658	1.663427	0.999999998028611	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	4.67	3.77	0.42499	0.550000	0.23052	0.698000	0.20823	0.676000	0.76740	0.048000	0.21332	0.144000	0.23118	0.071000	0.16709	0.1001:0.0:0.8999:0.0	9.860	0.40276	940	0.13648	.;Kininogen-type cystatin domain|Cystatin domain|Cystatin domain;.;.;Kininogen-type cystatin domain|Cystatin domain|Cystatin 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	.	.	.	.	.	.	.	.	0.05	460.43	40	chr3	186722491	.	G	A	460.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.694;DP=358;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=0.378;SOR=0.782	GT:AD:DP:GQ:PL	0/1:27,24:51:99:472,0,531	9	0	1	0
chr3	187368571	187368571	C	A	exonic	RTP4	.	nonsynonymous SNV	RTP4:NM_022147:exon1:c.C130A:p.Q44K	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0128979557018	0.0006	0.000399361	0.0005	0	8.787e-05	0	0	0.0009	0.0011	0.0001	0.0004334	67	154602	rs138235427	0.0004	0.0004	0.0004	0.0004	0.0009	0.0003	0.0003	0.0003	0.0003	0.0001	0.0004	0.0050	0	0	0.0009	0.0003	0.0005	8.126e-05	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0003	4.812e-05	0	0.0006	0.0023	0	0	0	0.0004	0.0005	0	0.075	0.34444	T	0.0	0.92824	D	0.987	0.61912	D	0.845	0.60432	P	0.002334	0.36766	N	0.262581	0.825461	0.28828	N	3.085	0.87354	M	2.06	0.20523	T	-3.87	0.72594	D	0.297	0.33578	-1.0300	0.20454	T	0.090	0.34436	T	10	0.014566958	0.00306	T	0.012898	0.31871	T	0.228	0.52768	.	.	0.388010793773	0.38412	0.29106658121647977	0.29019	0.645257866395	0.57986	0.320634663105	0.13517	T	0.137353	0.47024	T	-0.272573	0.11471	T	-0.28437	0.46355	T	0.120523873199111	0.14481	T	0.782022	0.41734	T	0.59242016	0.72282	0.45033127	0.68012	0.59242016	0.72283	0.45033127	0.68012	-8.021	0.61213	D	.	.	0.224	0.45544	B	.	.	3.079473	0.41422	21.4	0.99324554903947659	0.59507	0.73298	0.35856	D	AEFDGBHCI	0.140102	0.26191	N	0.398690310864591	0.61352	4.335029	0.319637662467665	0.56694	3.833202	0.999999969020082	0.74766	0.487112	0.14033	0	0.52208	0.09955	0	0.573888	0.23631	0	0.618803	0.45993	0	.	.	4.07	3.2	0.35826	1.361000	0.33740	2.360000	0.32366	0.599000	0.40250	0.948000	0.32982	0.941000	0.28781	0.586000	0.31041	0.0:0.8871:0.0:0.1129	7.680	0.27674	831	0.39019	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.05	792.43	33	chr3	187368571	.	C	A	792.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.718;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-1.07;SOR=0.608	GT:AD:DP:GQ:PL	0/1:45,36:81:99:804,0,1097	9	0	1	0
chr3	195725265	195725265	C	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.C662T:p.P221L,MUC20:NM_020790:exon3:c.C548T:p.P183L	.	1227	268	12	15	0	42	0.0726644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0279939078184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178367301	0.0039	0.0022	0.0035	0.0042	0.0229	0.0036	0.0034	0.0194	0.0181	0	0.0229	0.0016	0.0004	0.0035	0	0.0017	0.0016	0.0098	0.0909	0.0077	0	0.1667	0.2500	0.0162	0.0068	.	.	.	.	0.2500	.	0	0.5000	.	0	.	.	0.935	0.05501	T	0.009	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.97	0.13795	T	-0.71	0.20145	N	0.071	0.04426	-0.9482	0.41279	T	0.016	0.06473	T	5	0.0043722987	0.00089	T	0.027994	0.50737	D	0.012	0.01476	0.268	0.21576	.	.	0.08169079549289465	0.08104	.	.	.	.	.	0.002482	0.09657	T	-0.314255	0.07379	T	-0.689182	0.06436	T	0.0349274069218366	0.02795	T	.	.	.	0.046044763	0.07641	0.13236813	0.31765	0.046044763	0.07640	0.13236813	0.31764	-7.122	0.54919	T	.	.	0.357	0.69288	A	.;.;.	.;.;.	0.983081	0.13607	10.14	0.97336882581047512	0.33452	0.00384	0.01939	N	AEFI	0.051030	0.08975	N	-0.961609506576599	0.09433	0.4464343	-1.14477772820503	0.06862	0.3317746	1.15960121852374E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	1.090000	0.30514	0.659000	0.20486	0.196000	0.17891	0.011000	0.18532	0.001000	0.17328	0.019000	0.11356	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3571	868.97	2	chr3	195725265	.	C	T	868.97	.	AC=5;AF=0.357;AN=14;BaseQRankSum=2.29;DP=65;ExcessHet=0;FS=7.901;MLEAC=7;MLEAF=0.5;MQ=29.22;MQRankSum=0.981;QD=23.49;ReadPosRankSum=0.655;SOR=4.743	GT:AD:DP:GQ:PL	1/1:0,7:7:21:227,21,0	4	2	1	3
chr3	195780480	195780480	-	GTGACAGGAAGAGAGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTTGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTT	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.11099_11100insAAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCAACACTTCCTCAGCATCCACAGGTCACGCCACCTCTCTTCCTGTCAC:p.T3700_I3701insSLSSVSTGDTTPLLVTNTSSASTGHATSLPVT,MUC4:NM_001322468:exon14:c.9707_9708insAAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCAACACTTCCTCAGCATCCACAGGTCACGCCACCTCTCTTCCTGTCAC:p.G3237_A4615delinsSLSSVSTGDTTPLLVTNTSSASTGHATSLPVTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0004	0.0003	0.0003	0.0014	0.0003	0.0002	0.0006	0.0004	7.001e-05	0.0005	0.0008	0	0.0006	0.0014	0.0003	0.0003	0.0002	5.609e-05	6.054e-05	1.376e-05	0.0001	0.0003	2.708e-05	1.939e-05	0.0001	8.556e-05	3.045e-05	0	0.0003	0	0	0	0	2.952e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6815.39	356	chr3	195780480	.	G	GGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTTGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTT	6815.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.46;DP=4263;ExcessHet=0;FS=2.448;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.94;MQRankSum=-6.857;QD=15.21;ReadPosRankSum=-8.989;SOR=0.928	GT:AD:DP:GQ:PL	0/1:241,207:448:99:6827,0,9396	9	0	1	0
chr3	195783332	195783332	T	0	exonic	MUC4	.	.	.	.	445	998	16	0	63	79	0.00795229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2590.63	269	chr3	195783332	.	T	*	2590.63	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.628;DP=2091;ExcessHet=0.0072;FS=7.129;InbreedingCoeff=0.5833;MLEAC=7;MLEAF=0.35;MQ=53.41;MQRankSum=-3.165;QD=3.64;ReadPosRankSum=5.36;SOR=1.16	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	6	3	1	0
chr3	195783335	195783335	C	0	exonic	MUC4	.	.	.	.	452	969	39	0	62	101	0.0197269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2541.63	269	chr3	195783335	.	C	*	2541.63	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.946;DP=2053;ExcessHet=0.0072;FS=7.183;InbreedingCoeff=0.5833;MLEAC=7;MLEAF=0.35;MQ=52.66;MQRankSum=-2.923;QD=3.62;ReadPosRankSum=5.65;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	6	3	1	0
chr3	195783346	195783346	A	0	exonic	MUC4	.	.	.	.	1082	70	139	167	64	537	0.771615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	6741.53	262	chr3	195783346	.	A	*	6741.53	.	AC=7;AF=0.583;AN=12;BaseQRankSum=1.81;DP=1982;ExcessHet=0;FS=0;InbreedingCoeff=0.6581;MLEAC=9;MLEAF=0.75;MQ=54.66;MQRankSum=1.23;QD=8.5;ReadPosRankSum=1.52;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	2	3	1	4
chr3	195783357	195783357	C	0	exonic	MUC4	.	.	.	.	804	505	66	83	64	296	0.186795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5030.64	228	chr3	195783357	.	C	*	5030.64	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.25;DP=1743;ExcessHet=0;FS=1.363;InbreedingCoeff=0.4453;MLEAC=8;MLEAF=0.667;MQ=48.74;MQRankSum=1.28;QD=9.62;ReadPosRankSum=-3.531;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	3	3	0	4
chr3	195783367	195783367	A	0	exonic	MUC4	.	.	.	.	717	615	72	57	61	247	0.131356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	3934.46	203	chr3	195783367	.	A	*	3934.46	.	AC=6;AF=0.6;AN=10;BaseQRankSum=4.29;DP=1517;ExcessHet=0;FS=0.846;InbreedingCoeff=0.3056;MLEAC=8;MLEAF=0.8;MQ=45.95;MQRankSum=-0.796;QD=8.1;ReadPosRankSum=-3.365;SOR=0.568	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	2	3	0	5
chr3	195783375	195783375	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	106.86	184	chr3	195783375	.	G	*	106.86	.	AC=6;AF=0.333;AN=18;BaseQRankSum=0.126;DP=1427;ExcessHet=0;FS=5.516;InbreedingCoeff=0.7222;MLEAC=6;MLEAF=0.333;MQ=35.23;MQRankSum=0.385;QD=0.34;ReadPosRankSum=-1.036;SOR=0.132	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	6	3	0	1
chr3	195783379	195783379	G	0	exonic	MUC4	.	.	.	.	3	172	18	18	15	69	0.135678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2039.5	184	chr3	195783379	.	G	*	2039.5	.	AC=6;AF=0.333;AN=18;DP=1416;ExcessHet=0;FS=0;InbreedingCoeff=0.9208;MLEAC=6;MLEAF=0.333;MQ=45.73;QD=5.63;SOR=1.327	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	6	3	0	1
chr3	195783380	195783380	T	0	exonic	MUC4	.	.	.	.	765	698	30	28	1	87	0.0580297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	483.38	186	chr3	195783380	.	T	*	483.38	.	AC=5;AF=0.417;AN=12;BaseQRankSum=4.23;DP=1385;ExcessHet=0.0125;FS=6.151;InbreedingCoeff=0.2314;MLEAC=6;MLEAF=0.5;MQ=47.62;MQRankSum=0.566;QD=1.21;ReadPosRankSum=-1.068;SOR=0.304	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	3	2	1	4
chr3	195783381	195783383	GTC	0	exonic	MUC4	.	.	.	.	696	688	46	34	58	172	0.0765101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1847.3	186	chr3	195783381	.	GTC	*	1847.3	.	AC=4;AF=0.4;AN=10;DP=1382;ExcessHet=0;FS=0;InbreedingCoeff=0.5539;MLEAC=6;MLEAF=0.6;MQ=43.59;QD=7.54;SOR=1.59	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	3	2	0	5
chr3	195783383	195783383	C	0	exonic	MUC4	.	.	.	.	697	686	76	62	1	201	0.127226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	269.64	183	chr3	195783383	.	C	*	269.64	.	AC=7;AF=0.583;AN=12;BaseQRankSum=4.08;DP=1386;ExcessHet=0.0125;FS=5.095;InbreedingCoeff=0.1822;MLEAC=9;MLEAF=0.75;MQ=47.74;MQRankSum=0.566;QD=0.61;ReadPosRankSum=-0.842;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	2	3	1	4
chr3	195783395	195783395	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2057.19	158	chr3	195783395	.	A	*	2057.19	.	AC=2;AF=0.25;AN=8;DP=1262;ExcessHet=0;FS=0;InbreedingCoeff=0.4987;MLEAC=3;MLEAF=0.375;MQ=49.74;QD=9.61;SOR=1.576	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	3	1	0	6
chr3	195783400	195783400	G	0	exonic	MUC4	.	.	.	.	581	868	25	28	20	101	0.044579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	526.28	149	chr3	195783400	.	G	*	526.28	.	AC=2;AF=0.2;AN=10;DP=1276;ExcessHet=0;FS=0;InbreedingCoeff=0.6247;MLEAC=3;MLEAF=0.3;MQ=48.57;QD=2.97;SOR=1.265	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	4	1	0	5
chr3	195783422	195783422	A	0	exonic	MUC4	.	.	.	.	663	798	25	28	8	89	0.0483005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1379.31	40	chr3	195783422	.	A	*	1379.31	.	AC=2;AF=0.143;AN=14;DP=954;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=51.32;QD=6.93;SOR=1.405	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	6	1	0	3
chr3	195783427	195783432	GTGTCA	0	exonic	MUC4	.	.	.	.	582	882	25	28	5	86	0.0439024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1246.3	40	chr3	195783427	.	GTGTCA	*	1246.3	.	AC=2;AF=0.143;AN=14;DP=950;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=51.63;QD=6.39;SOR=1.39	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	6	1	0	3
chr3	195783436	195783479	GTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTC	0	exonic	MUC4	.	.	.	.	562	903	25	28	4	85	0.0429253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1065.41	40	chr3	195783436	.	GTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTC	*	1065.41	.	AC=2;AF=0.125;AN=16;DP=595;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.125;MQ=52.1;QD=5.64;SOR=1.417	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	7	1	0	2
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	27926.1	463	chr3	195783896	.	G	GAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	27926.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.176;DP=5220;ExcessHet=2.8389;FS=0.604;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=54.7;MQRankSum=-5.849;QD=15.1;ReadPosRankSum=-8.49;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:200,75:279:99:.:.:8905,0,6227:.	5	0	5	0
chr3	195784267	195784290	ACGTTGGTGACAGGAAGACGGGTG	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.7290_7313del:p.T2431_V2438del,MUC4:NM_001322468:exon7:c.7242_7265del:p.P2415_A4615delinsTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	424	1077	8	0	13	21	0.00370028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.276e-05	0	0	0	0	0.0002	0	0	.	.	.	rs773708999	0.0024	0.0088	0.0023	0.0024	0.0156	0.0023	0.0023	0.0125	0.0113	0.0034	0.0042	0.0047	0	0.0029	0.0156	0.0021	0.0034	0.0026	0.0001	0.0015	0.0001	0.0002	0.0005	9.324e-05	7.791e-05	0.0002	0.0002	0.0001	0	0.0005	0.0003	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	5578.01	615	chr3	195784266	.	AACGTTGGTGACAGGAAGACGGGTG	A	5578.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=8.56;DP=5849;ExcessHet=0;FS=6.378;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=55.33;MQRankSum=-16.51;QD=11.74;ReadPosRankSum=-5.424;SOR=1.152	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:314,161:475:99:0|1:195784172_T_C:5589,0,12701:195784172	8	0	1	1
chr3	195784271	195784271	T	0	exonic	MUC4	.	.	.	.	445	567	491	0	19	510	0.302154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	25636.5	636	chr3	195784271	.	T	*	25636.5	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.892;DP=7053;ExcessHet=4.5998;FS=1.163;InbreedingCoeff=-0.5385;MLEAC=1;MLEAF=0.063;MQ=59.36;MQRankSum=-4.458;QD=5.16;ReadPosRankSum=-1.126;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:314,161:475:99:0|1:195784172_T_C:5589,0,12701:195784172	7	0	1	2
chr3	195784295	195784318	CACCTGTGGAAGCTGAGGAAAGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.7262_7285del:p.G2421_G2428del,MUC4:NM_001322468:exon7:c.7214_7237del:p.G2405_A4615delinsASPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	416	1086	7	0	13	20	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0003	0	0	3.84e-05	1	26028	rs775224465	0.0022	0.0088	0.0022	0.0023	0.0151	0.0022	0.0021	0.0121	0.0110	0.0032	0.0043	0.0049	0	0.0030	0.0151	0.0020	0.0034	0.0026	0.0001	0.0014	9.675e-05	0.0001	0.0003	6.433e-05	5.217e-05	0.0001	8.824e-05	8.575e-05	0	0.0003	0.0003	0	0	0	9.109e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	6397.01	632	chr3	195784294	.	TCACCTGTGGAAGCTGAGGAAAGGC	T	6397.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=6.01;DP=6802;ExcessHet=0;FS=3.341;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=54.94;MQRankSum=-15.59;QD=13.55;ReadPosRankSum=-6.767;SOR=0.967	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:293,179:472:99:0|1:195784172_T_C:6408,0,11734:195784172	8	0	1	1
chr3	195784299	195784299	T	0	exonic	MUC4	.	.	.	.	418	1069	19	1	15	36	0.00972673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	3168.19	632	chr3	195784299	.	T	*	3168.19	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.583;DP=6897;ExcessHet=0.2348;FS=1.235;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.056;MQ=59.59;MQRankSum=2.22;QD=2.32;ReadPosRankSum=-1.026;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:293,179:472:99:0|1:195784172_T_C:6408,0,11734:195784172	8	0	1	1
chr3	195784340	195784340	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G7240A:p.A2414T,MUC4:NM_001322468:exon7:c.G7192A:p.A2398T	.	460	1045	15	2	0	19	0.00900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00433362787869	.	.	0.0003	0	0	0	0	0.0006	0	0	7.12e-05	11	154602	rs200964957	0.0022	0.0036	0.0020	0.0024	0.0109	0.0021	0.0021	0.0083	0.0074	0.0032	0.0050	0.0043	0	0.0036	0.0109	0.0019	0.0030	0.0032	0.0007	0.0039	0.0008	0.0007	0.0013	0.0006	0.0005	0.0007	0.0006	0.0011	0	0.0013	0.0008	0	0	0	0.0006	0.0008	0.0006	0.575	0.13219	T	0.299	0.20615	T	.	.	.	.	.	.	.	.	.	.	1	0.19853	N	.	.	.	1.38	0.34050	T	0.17	0.06612	N	0.043	0.01658	-1.0104	0.26791	T	0.028	0.11926	T	7	0.032047182	0.01349	T	0.004334	0.10529	T	0.017	0.02790	.	.	0.0138822411134	0.00435	4.8440990828133E-4	0.00044	.	.	0.495961010456	0.38265	T	.	.	.	-0.334216	0.05799	T	-0.717854	0.04901	T	0.00313935512708717	0.00033	T	0.682032	0.29067	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.03811	B	.;.	.;.	0.528788	0.08976	5.756	0.94107301117828379	0.24274	0.00235	0.01311	N	AEFBCI	0.041178	0.06227	N	-1.31152042636515	0.03542	0.1584179	-1.39536983910569	0.03301	0.1537084	1.36829983409383E-5	0.02871	0.447487	0.09398	2	0.546412	0.12157	0	0.49644	0.08281	0	0.613276	0.41899	0	.	.	.	.	.	-4.156000	0.00322	-4.105000	0.02340	-2.064000	0.00412	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	1.0E-4:0.5541:0.4458:1.0E-4	4.188	0.09869	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	0.025384	0.036842	0.016340	0.057522	0.000000	0.010638	0.021875	0.003968	0.07143	8466.52	632	chr3	195784340	.	C	T	8466.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.262;DP=7180;ExcessHet=0;FS=4.051;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.071;MQ=54.59;MQRankSum=-11.89;QD=18.09;ReadPosRankSum=-5.615;SOR=0.882	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:233,235:468:99:0|1:195784172_T_C:8476,0,8672:195784172	6	0	1	3
chr3	195784343	195784343	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7237G:p.H2413D,MUC4:NM_001322468:exon7:c.C7189G:p.H2397D	.	428	1009	55	7	23	92	0.0330618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00480540183533	.	.	0.0002	0	0	0	0	0.0005	0	0	3.84e-05	1	26028	rs202190300	0.0030	0.0072	0.0028	0.0032	0.0156	0.0029	0.0028	0.0125	0.0114	0.0034	0.0055	0.0056	0	0.0057	0.0156	0.0026	0.0040	0.0037	0.0002	0.0031	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0003	0.0010	0	0	0	0.0003	0.0006	0	1.0	0.02017	T	0.195	0.28300	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.58	0.29342	T	-0.17	0.09627	N	0.166	0.17553	-1.0072	0.27789	T	0.036	0.15334	T	7	0.046534777	0.03856	T	0.004805	0.12004	T	0.025	0.05312	.	.	0.0138822411134	0.00435	6.529260570088327E-4	0.00060	.	.	0.507045388222	0.39809	T	.	.	.	-0.348596	0.04816	T	-0.738511	0.03953	T	0.0315731556165468	0.02238	T	0.566543	0.20051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07697	B	.;.	.;.	-0.449607	0.02034	0.183	0.84245075148163384	0.15179	0.00328	0.01715	N	AEFBCI	0.042811	0.06688	N	-1.40519715015048	0.02593	0.1147022	-1.53226286008654	0.02100	0.09610031	1.84639979935336E-5	0.02871	0.447487	0.09398	2	0.546412	0.12157	0	0.49644	0.08281	0	0.613276	0.41899	0	.	.	.	.	.	-3.341000	0.00560	-1.066000	0.06436	-2.392000	0.00297	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	1.0E-4:0.0:0.6456:0.3543	4.69	0.12158	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.037603	0.042553	0.035599	0.082609	0.000000	0.021277	0.028481	0.007937	0.0625	10796.0	461	chr3	195784343	.	G	C	10796.0	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.869;DP=7347;ExcessHet=0.7463;FS=2.732;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.063;MQ=57.26;MQRankSum=-11.14;QD=8.21;ReadPosRankSum=-9.662;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:226,255:481:99:0|1:195784172_T_C:8561,0,8300:195784172	7	0	1	2
chr3	195784615	195784615	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C6965A:p.P2322H,MUC4:NM_001322468:exon7:c.C6917A:p.P2306H	.	449	992	64	9	8	90	0.0396902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	.	0.0023	0.0024	0.0029	0	0.0102	0.0026	0.0050	0.0004	0.0002689	7	26028	rs202186297	0.0004	0.0005	0.0004	0.0004	0.0023	0.0004	0.0004	0.0013	0.0012	0.0018	3.126e-05	0.0011	0	0.0019	0.0023	0.0004	0.0005	0	0.0012	0.0023	0.0011	0.0012	0.0016	0.0010	0.0009	0.0013	0.0012	0.0005	0.0026	0.0014	0.0007	0	0.0010	0.0097	0.0016	0.0013	0.0003	0.038	0.42783	D	0.097	0.39340	T	.	.	.	.	.	.	0.027698	0.25717	U	0.000000	0.999999	0.58761	D	.	.	.	1.4	0.33630	T	-0.4	0.15178	N	0.073	0.04668	-1.0243	0.22311	T	0.035	0.15117	T	8	0.0055631995	0.00123	T	.	.	.	0.011	0.01250	.	.	0.0138822411134	0.00435	0.0072099077194718	0.00686	.	.	0.515149652958	0.40944	T	.	.	.	-0.294118	0.09227	T	-0.660257	0.08249	T	0.00524648325517774	0.00057	T	0.589041	0.21605	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27523	B	.;.	.;.	2.050602	0.26070	16.99	0.86831532698498159	0.16802	0.00189	0.01098	N	AEFBI	0.041828	0.06411	N	-1.32881247330487	0.03350	0.1494802	-1.42498601879995	0.03004	0.1393107	2.14370694880792E-5	0.03498	0.615465	0.37627	0	0.54472	0.11627	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	0.026000	0.13490	-1.275000	0.05842	0.177000	0.17786	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	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	0.046260	0.060811	0.024648	0.081081	0.000000	0.064516	0.047170	0.031250	0.1	6485.54	495	chr3	195784615	.	G	T	6485.54	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.938;DP=5136;ExcessHet=0.2996;FS=1.841;InbreedingCoeff=-0.0449;MLEAC=1;MLEAF=0.1;MQ=57.15;MQRankSum=-12.76;QD=7.6;ReadPosRankSum=-3.227;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:287,180:467:99:0|1:195784560_A_G:6493,0,11143:195784560	4	0	1	5
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	9384.16	687	chr3	195785732	.	T	TGTCACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAACAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGC	9384.16	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.63;DP=6283;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=56.42;MQRankSum=-13.02;QD=6.86;ReadPosRankSum=-3.896;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:296,145:441:99:.:.:4576,0,11517:.	8	0	2	0
chr3	195787220	195787220	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A4360G:p.T1454A,MUC4:NM_001322468:exon5:c.A4360G:p.T1454A	.	716	790	14	0	2	16	0.00878294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00102655041167	.	.	0.0014	0	0	0	0	0	0	0.0048	.	.	.	rs57375766	0.0022	0.0051	0.0024	0.0021	0.0103	0.0021	0.0021	0.0085	0.0078	0.0103	0.0012	0.0017	0.0007	0.0017	0.0081	0.0024	0.0026	0.0017	0.0002	0.0062	0.0001	0.0003	0.0015	4.8e-05	2.501e-05	0.0004	0.0002	0	0	0.0015	0	0	0	0	0	0	0	0.263	0.16412	T	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.62	0.28391	T	-0.17	0.09627	N	0.024	0.00618	-1.0658	0.10362	T	0.046	0.19680	T	8	0.005870551	0.00131	T	0.001027	0.01144	T	0.072	0.21020	.	.	0.0138822411134	0.00435	3.0172336509108314E-5	0.00003	.	.	0.48078930378	0.36165	T	.	.	.	-0.307554	0.07966	T	-0.679556	0.07011	T	0.0269427735501035	0.01536	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04599	B	.;.	.;.	0.084564	0.04899	1.480	0.357751460619124	0.02264	0.00079	0.00540	N	AEFI	0.028332	0.02477	N	-1.40416669456761	0.02602	0.1151234	-1.63178825129872	0.01473	0.06663774	2.25658350194566E-4	0.06048	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.844	-1.69	0.07747	-1.282000	0.02907	-2.264000	0.03979	-1.644000	0.00835	0.003000	0.16062	0.000000	0.08366	0.005000	0.06747	0.0:0.2503:0.2814:0.4683	2.472	0.04289	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	97.35	13	chr3	195787220	.	T	C	97.35	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.484;DP=136;ExcessHet=0.8432;FS=7.592;InbreedingCoeff=-0.2142;MLEAC=1;MLEAF=0.056;MQ=37.83;MQRankSum=0.605;QD=1.95;ReadPosRankSum=-2.189;SOR=2.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,3:12:99:0|1:195787173_C_A:108,0,168:195787173	8	0	1	1
chr3	195787221	195787221	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C4359G:p.H1453Q,MUC4:NM_001322468:exon5:c.C4359G:p.H1453Q	.	710	796	14	0	2	16	0.00871731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00363305237974	.	.	0.0014	0	0	0	0	0	0	0.0046	.	.	.	rs57046814	0.0019	0.0037	0.0020	0.0018	0.0087	0.0018	0.0018	0.0071	0.0065	0.0087	0.0012	0.0017	6.356e-05	0.0016	0.0079	0.0020	0.0023	0.0015	0.0002	0.0057	9.948e-05	0.0002	0.0013	4.372e-05	2.283e-05	0.0003	0.0002	0	0	0.0013	0	0	0	0	0	0	0	0.305	0.14256	T	0.112	0.37310	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.55	0.30133	T	-0.27	0.11366	N	0.142	0.14196	-1.0523	0.13763	T	0.066	0.27295	T	7	0.0057269335	0.00128	T	0.003633	0.08340	T	0.025	0.05312	0.15	0.05339	0.0138822411134	0.00435	8.992485504540269E-6	0.00000	.	.	0.485468327999	0.36811	T	.	.	.	-0.331498	0.05999	T	-0.71395	0.05094	T	0.0145037450175766	0.00295	T	0.533947	0.17813	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32922	B	.;.	.;.	0.674190	0.10428	7.148	0.63466496127463778	0.07231	0.00650	0.02830	N	AEFI	0.046351	0.07686	N	-0.719788524630985	0.15466	0.7796622	-0.990312119972928	0.10002	0.5010382	1.30833915264134E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	0.013000	0.13206	-0.742000	0.07615	0.167000	0.17740	0.003000	0.16062	0.000000	0.08366	0.008000	0.08271	1.0E-4:0.0:0.6164:0.3835	4.290	0.10320	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	99.34	13	chr3	195787221	.	G	C	99.34	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.2;DP=134;ExcessHet=0.8432;FS=7.731;InbreedingCoeff=-0.2142;MLEAC=1;MLEAF=0.056;MQ=37.38;MQRankSum=0.728;QD=2.07;ReadPosRankSum=-2.189;SOR=2.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,3:10:99:0|1:195787173_C_A:110,0,164:195787173	8	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4260.43	99	chr3	195788016	.	A	AGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG	4260.43	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.458;DP=765;ExcessHet=0.3476;FS=31.766;InbreedingCoeff=0.092;MLEAC=2;MLEAF=0.143;MQ=37.93;MQRankSum=1.79;QD=17.68;ReadPosRankSum=-8.864;SOR=3.387	GT:AD:DP:GQ:PL	0/1:68,61:129:99:2355,0,1796	5	0	2	3
chr4	654137	654137	C	T	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_001145292:exon3:c.C73T:p.R25C,PDE6B:NM_001350154:exon3:c.C73T:p.R25C,PDE6B:NM_001379246:exon3:c.C73T:p.R25C,PDE6B:NM_001379247:exon3:c.C73T:p.R25C,PDE6B:NM_000283:exon5:c.C910T:p.R304C,PDE6B:NM_001145291:exon5:c.C910T:p.R304C	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2014936	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.271	0.098802548146	.	.	8.335e-06	0	0	0	0	1.522e-05	0	0	6.5e-06	1	154602	rs573290599	1.984e-05	2.052e-05	2.179e-05	1.788e-05	0.0005	1.392e-05	1.204e-05	0.0001	7.541e-05	2.987e-05	2.236e-05	0	7.557e-05	0	0.0005	1.619e-05	3.312e-05	1.159e-05	2.626e-05	2.624e-05	0	5.37e-05	0.0004	8.14e-06	5.14e-06	7.296e-05	3.031e-05	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	0.004	0.91255	D	0.164	0.83351	T	0.325	0.34240	B	0.071	0.32014	B	0.023515	0.26429	N	0.411101	0.999991	0.58761	D	1.175	0.29870	L	-0.27	0.73949	T	-3.95	0.85765	D	0.549	0.57518	-0.3482	0.73606	T	0.341	0.70680	T	10	0.34120986	0.51176	T	0.098803	0.77003	D	0.271	0.58633	0.491	0.57732	0.850389496249	0.84895	0.4773987303601982	0.47659	0.260720287398	0.28635	0.7030184865	0.67580	T	0.732805	0.92535	D	0.00900039	0.52890	T	-0.0433201	0.67477	D	0.557356357574463	0.34755	D	0.843416	0.57273	T	0.3009428	0.52990	0.2207436	0.46861	0.3009428	0.52990	0.2207436	0.46860	-7.634	0.69682	D	.	.	0.090	0.25527	B	.;.;.;.;.	.;.;.;.;.	3.965425	0.58188	23.9	0.99696995684393364	0.80316	0.79619	0.39488	D	AEFDBI	0.615256	0.60227	D	0.109478113359446	0.46904	2.923757	0.208024034465156	0.50294	3.222816	0.999917990059947	0.45857	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.1	5.1	0.68917	1.377000	0.33923	.	.	0.589000	0.31548	0.185000	0.24126	0.348000	0.24457	0.700000	0.34141	0.0:1.0:0.0:0.0	16.031	0.80381	799	0.44747	.;GAF domain|GAF domain;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	704.43	36	chr4	654137	.	C	T	704.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.74;DP=379;ExcessHet=0;FS=0.944;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=0.652;SOR=0.894	GT:AD:DP:GQ:PL	0/1:42,30:72:99:716,0,927	9	0	1	0
chr4	6587110	6587110	A	G	exonic	MAN2B2	.	nonsynonymous SNV	MAN2B2:NM_001292038:exon4:c.A506G:p.N169S,MAN2B2:NM_015274:exon4:c.A506G:p.N169S	.	.	.	.	.	.	.	.	.	.	.	3288335	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.00484052899721	.	.	4.987e-05	0	8.67e-05	0	0	3.037e-05	0	0.0002	3.88e-05	6	154602	rs771068415	5.679e-05	5.678e-05	6.127e-05	5.226e-05	6.957e-05	4.677e-05	4.302e-05	4.9e-05	4.484e-05	0	2.236e-05	0	2.519e-05	0	0	6.115e-05	0.0001	6.957e-05	5.913e-05	5.91e-05	6.422e-05	5.379e-05	0.0002	3.077e-05	2.21e-05	3.761e-05	2.575e-05	0	0	0.0001	0	0	0	0	8.819e-05	0	0.0002	0.015	0.53900	D	0.102	0.39340	T	0.548	0.38076	P	0.209	0.40336	B	0.072923	0.21378	N	0.525914	0.853843	0.35268	D	0.93	0.23535	L	2.0	0.21473	T	-3.03	0.64363	D	0.274	0.37509	-1.0448	0.15884	T	0.038	0.16246	T	10	0.19332683	0.35098	T	0.004841	0.12130	T	0.130	0.35528	.	.	0.249502417897	0.24576	0.4115132127704972	0.41067	0.15906184734	0.17949	0.351981312037	0.18214	T	0.304155	0.67647	T	-0.418099	0.01759	T	-0.601678	0.12670	T	0.170358054798086	0.18605	T	0.854615	0.54393	D	0.11596553	0.27358	0.15460588	0.36277	0.11596553	0.27358	0.15460588	0.36276	-6.399	0.49502	T	.	.	0.081	0.08129	B	.;.	.;.	1.599586	0.20451	14.75	0.97682159580847727	0.35323	0.87940	0.47658	D	AEFDBI	0.584056	0.58303	D	-0.314308948567797	0.28604	1.579077	-0.305832590228869	0.27910	1.552121	0.999419880762967	0.39577	0.706548	0.73137	0	0.643519	0.57511	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.09	2.9	0.32809	5.686000	0.67874	0.044000	0.13909	0.738000	0.86027	0.979000	0.35152	0.000000	0.08366	0.233000	0.22815	0.905:0.0:0.095:0.0	8.633	0.33092	982	0.03397	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	.	.	.	.	.	.	.	.	0.05	1358.43	40	chr4	6587110	.	A	G	1358.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.858;DP=491;ExcessHet=0;FS=0.584;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=0.639;SOR=0.606	GT:AD:DP:GQ:PL	0/1:99,67:166:99:1370,0,2180	9	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	.	.	.	.	.	.	.	.	0.45	2133.02	152	chr4	6862306	.	T	C	2133.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.47;DP=1244;ExcessHet=15.1594;FS=225.654;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=1.2;SOR=11.543	GT:AD:DP:GQ:PL	0/1:99,34:133:99:195,0,2084	1	0	9	0
chr4	8441412	8441412	C	G	exonic	TRMT44	.	nonsynonymous SNV	TRMT44:NM_152544:exon1:c.C590G:p.T197R	.	427	1009	83	3	0	89	0.0422402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	0.00858626	0.0287	0.0080	0.0065	0.0058	0.0031	0.0195	0.0260	0.0450	0.0037839	585	154602	rs112997829	0.0105	0.0100	0.0098	0.0112	0.0346	0.0104	0.0103	0.0335	0.0331	0.0047	0.0060	0.0151	0.0001	0.0019	0.0304	0.0095	0.0109	0.0346	0.0085	0.0085	0.0080	0.0090	0.0288	0.0081	0.0080	0.0249	0.0234	0.0056	0.0493	0.0099	0.0127	0.0002	0.0012	0.0204	0.0094	0.0118	0.0288	0.447	0.09075	T	0.378	0.16086	T	.	.	.	.	.	.	0.121706	0.02731	N	1.885000	1	0.08975	N	0.955	0.23872	L	2.2	0.18570	T	-1.36	0.33798	N	0.043	0.01577	-1.0113	0.26510	T	0.027	0.11574	T	8	0.002782017	0.00044	T	.	.	.	0.028	0.06331	.	.	.	.	0.3895442264070437	0.38869	0.0237363171192	0.02403	0.470437943935	0.34740	T	0.006277	0.05717	T	-0.596178	0.00154	T	-0.604077	0.12471	T	0.00130142170890971	0.00013	T	0.359464	0.08250	T	0.03544278	0.04172	0.06397814	0.12754	0.03544278	0.04171	0.06397814	0.12754	-4.308	0.28288	T	.	.	0.087	0.11220	B	.	.	0.493478	0.08624	5.396	0.77617184845155829	0.11951	0.02881	0.07661	N	AEFDBCI	0.028691	0.02576	N	-0.716175274960565	0.15567	0.7856458	-0.836457000307403	0.13614	0.7071644	0.999956225536474	0.48110	0.542737	0.22433	0	0.484254	0.07192	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.1	1.29	0.20717	0.469000	0.21779	0.422000	0.18230	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.567:0.3378:0.0952	7.467	0.26500	949	0.11373	.	RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|ACOX3|RP11-774O3.3|RP11-774O3.3	Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid	.	.	rs112997829	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016710	0.000000	0.007353	0.012048	0.000000	0.000000	0.023529	0.021277	0.1	2880.14	39	chr4	8441412	.	C	G	2880.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.036;DP=571;ExcessHet=0.2348;FS=0.944;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.879;SOR=0.614	GT:AD:DP:GQ:PL	0/1:71,65:136:99:1486,0,1666	8	0	2	0
chr4	17709587	17709587	G	A	exonic	FAM184B	.	nonsynonymous SNV	FAM184B:NM_015688:exon2:c.C199T:p.R67W	.	397	1103	20	2	0	24	0.0107623	.	.	.	2822455	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.373	0.179227908459	.	0.00259585	0.0052	0.0011	0.0036	0	0	0.0072	0	0.0051	0.0009573	148	154602	rs61746445	0.0027	0.0026	0.0026	0.0028	0.0117	0.0026	0.0026	0.0094	0.0085	0.0004	0.0010	0.0080	2.799e-05	0.0009	0.0117	0.0027	0.0039	0.0038	0.0020	0.0020	0.0020	0.0020	0.0041	0.0018	0.0018	0.0028	0.0027	0.0004	0	0.0016	0.0063	0	0.0006	0	0.0032	0.0014	0.0041	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.984	0.76113	D	0.000360	0.45440	D	0.163809	1	0.08975	N	2.22	0.62911	M	-1.15	0.77964	T	-5.0	0.82341	D	0.265	0.30004	-0.4580	0.70135	T	0.482	0.80215	T	10	0.006183207	0.00139	T	0.179228	0.85409	D	0.373	0.69188	.	.	0.361958692863	0.35806	0.41334810671549177	0.41250	.	.	0.477724611759	0.35743	T	0.340162	0.70922	T	-0.235981	0.15866	T	-0.112585	0.62404	T	0.0447716790519422	0.04561	T	0.872813	0.58002	D	0.339301	0.56224	0.37361875	0.62545	0.339301	0.56224	0.37361875	0.62545	-8.711	0.65818	D	.	.	0.126	0.26794	B	.	.	3.593035	0.50711	23.0	0.99873558175972643	0.95076	0.47163	0.27921	N	AEFDBCI	0.330195	0.43031	N	0.0438600788971241	0.43861	2.670819	-0.11204925906214	0.34903	2.013063	0.999834923307394	0.43792	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.32	1.08	0.19456	1.893000	0.39391	1.305000	0.25500	0.676000	0.76740	0.511000	0.27041	0.002000	0.18203	0.102000	0.18378	0.0826:0.0:0.2722:0.6452	8.699	0.33474	790	0.46189	Protein FAM184A/B, 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	1	0	0.009402	0.005618	0.012739	0.008000	0.000000	0.018519	0.009174	0.000000	0.05	958.43	41	chr4	17709587	.	G	A	958.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.234;DP=427;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-1.589;SOR=0.788	GT:AD:DP:GQ:PL	0/1:36,42:78:99:970,0,855	9	0	1	0
chr4	37245170	37245170	G	C	exonic	NWD2	.	nonsynonymous SNV	NWD2:NM_001144990:exon1:c.G103C:p.V35L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0290569382452	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450330756	2.872e-06	2.736e-06	4.251e-06	1.455e-06	0.0001	6.7e-07	4.5e-07	3.818e-05	2.263e-05	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.05899	T	0.12	0.35970	T	0.262	0.31549	B	0.046	0.24676	B	.	.	.	.	0.92571	0.36813	D	1.175	0.29870	L	2.35	0.16217	T	0.05	0.06369	N	0.096	0.07673	-1.0850	0.06407	T	0.028	0.11926	T	9	0.075412184	0.11651	T	0.029057	0.51634	D	0.046	0.12618	0.277	0.23004	0.0297737177859	0.01360	0.561714243708696	0.56098	.	.	0.767239868641	0.77011	T	0.003423	0.02829	T	-0.364812	0.03865	T	-0.567495	0.15681	T	0.423678368330002	0.29826	T	0.718628	0.33152	T	0.07799002	0.17735	0.12831095	0.30873	0.07799002	0.17735	0.12831095	0.30872	-2.772	0.07928	T	.	.	0.094	0.14293	B	.	.	2.420371	0.31122	18.65	0.99197862186028263	0.55171	0.91174	0.53005	D	AEFDBCIJ	0.451057	0.50519	N	-0.235128549255659	0.31702	1.780228	-0.0958465084097722	0.35561	2.058875	0.998937249993301	0.38009	0.59774	0.34471	0	0.610034	0.51514	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	4.78	3.94	0.44807	2.309000	0.43359	3.474000	0.38602	0.662000	0.56354	0.995000	0.38783	1.000000	0.68203	0.997000	0.79791	0.1766:0.0:0.8234:0.0	8.704	0.33507	935	0.14827	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	401.43	33	chr4	37245170	.	G	C	401.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.14;DP=352;ExcessHet=0;FS=1.154;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=-0.492;SOR=0.665	GT:AD:DP:GQ:PL	0/1:33,17:50:99:413,0,773	9	0	1	0
chr4	42893538	42893538	G	T	exonic	GRXCR1	.	nonsynonymous SNV	GRXCR1:NM_001080476:exon1:c.G272T:p.G91V	Deafness, autosomal recessive 25, Autosomal recessive	0	1472	48	2	0	52	0.0173565	.	.	.	173952	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_25|GRXCR1-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0013210,MedGen:C1414017,OMIM:613285,Orphanet:90636|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.051	0.00790688067224	0.0030	0.00279553	0.0051	0.0006	0.0017	0	0.0047	0.0061	0.0067	0.0087	0.0046118	713	154602	rs113203706	0.0045	0.0045	0.0042	0.0047	0.0109	0.0044	0.0044	0.0088	0.0080	0.0006	0.0028	0.0073	0	0.0043	0.0109	0.0044	0.0060	0.0082	0.0036	0.0036	0.0032	0.0040	0.0081	0.0033	0.0032	0.0061	0.0054	0.0008	0	0.0050	0.0084	0	0.0042	0.0102	0.0045	0.0028	0.0081	0.338	0.12796	T	0.42	0.14116	T	0.0	0.02946	B	0.001	0.04355	B	0.403506	0.13093	U	0.720289	0.999536	0.21028	N	0.895	0.22405	L	1.3	0.35590	T	-0.38	0.13418	N	0.186	0.20262	-1.0024	0.29226	T	0.074	0.30023	T	10	0.0068248212	0.00155	T	0.007907	0.20981	T	0.051	0.14325	.	.	0.21279746466	0.20884	0.7023987737389568	0.70180	0.0404129470778	0.04329	0.296552926302	0.09888	T	0.050399	0.28584	T	-0.606851	0.00132	T	-0.63949	0.09707	T	0.00404222462554798	0.00043	T	0.439856	0.12136	T	0.046149485	0.07674	0.058396593	0.10783	0.046149485	0.07674	0.058396593	0.10783	-2.956	0.09715	T	0.08242776387436643	0.04353	0.078	0.06896	B	.	.	0.665606	0.10342	7.069	0.92353461990523522	0.21755	0.43834	0.27185	N	AEFBI	0.122321	0.23741	N	-0.826282496098781	0.12641	0.6174501	-0.728622397824168	0.16250	0.8587279	1.33142710868807E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.87	1.06	0.19341	1.797000	0.38438	2.110000	0.30654	-0.816000	0.03012	0.965000	0.33920	0.980000	0.30356	0.780000	0.36908	0.0:0.4097:0.3797:0.2106	11.372	0.48947	853	0.34956	.	.	.	.	.	.	Likely benign	0	0	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	0.014602	0.005051	0.010870	0.014620	0.000000	0.025862	0.030488	0.018939	0.05	1868.43	44	chr4	42893538	.	G	T	1868.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.477;DP=559;ExcessHet=0;FS=1.961;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.229;SOR=0.539	GT:AD:DP:GQ:PL	0/1:89,78:167:99:1880,0,2294	9	0	1	0
chr4	54100558	54100558	T	C	exonic	GSX2	.	nonsynonymous SNV	GSX2:NM_133267:exon1:c.T214C:p.S72P	.	400	1119	1	0	2	3	0.000446628	.	.	.	2717185	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.302641875118	.	.	9.093e-05	0	0.0002	0	0	0	0	0.0004	3.88e-05	6	154602	rs768017023	2.278e-05	2.257e-05	1.509e-05	3.057e-05	0.0007	1.625e-05	1.429e-05	0.0002	0.0001	0	0	0	0	0	0.0007	9.032e-06	3.34e-05	0.0002	1.979e-05	1.973e-05	2.579e-05	1.35e-05	4.417e-05	5.26e-06	2.46e-06	1.173e-05	6.25e-06	0	0	0	0	0	0	0	4.417e-05	0	0	0.354	0.31235	T	0.316	0.19362	T	0.0	0.02946	B	0.001	0.04355	B	0.009724	0.30227	N	0.351818	1	0.81001	D	1.295	0.32453	L	-1.23	0.78860	T	0.59	0.17210	N	0.136	0.23506	-0.9500	0.40972	T	0.189	0.54019	T	10	0.09043315	0.15752	T	0.302642	0.90932	D	0.097	0.27909	0.28	0.23483	0.739439129335	0.73710	0.25534270004210907	0.25448	0.983718987563	0.73833	0.782930254936	0.79371	T	0.073758	0.34775	T	-0.349537	0.04756	T	-0.445028	0.28246	T	0.0251934584230185	0.01298	T	0.559344	0.19537	T	0.21815147	0.44316	0.12904999	0.31038	0.21815147	0.44316	0.12904999	0.31037	-3.314	0.13919	T	.	.	0.102	0.17785	B	.;.;.	.;.;.	2.157323	0.27483	17.48	0.93738499757279048	0.23672	0.73104	0.35764	D	AEFDBHCI	0.275735	0.39063	N	-0.645301953357638	0.17596	0.9068645	-0.498420209966513	0.22197	1.204475	0.999886116618372	0.44867	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.52	1.86	0.24489	0.721000	0.25580	0.146000	0.15234	0.519000	0.23678	0.767000	0.29322	0.012000	0.20211	0.968000	0.53726	0.0:0.0898:0.251:0.6592	6.882	0.23358	581	0.69614	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.05	731.43	48	chr4	54100558	.	T	C	731.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.051;DP=500;ExcessHet=0;FS=0.949;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0.025;SOR=0.922	GT:AD:DP:GQ:PL	0/1:35,32:67:99:743,0,844	9	0	1	0
chr4	56596552	56596552	T	A	exonic	THEGL	.	nonsynonymous SNV	THEGL:NM_001256475:exon7:c.T1028A:p.I343N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0197332335011	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867765210	2.751e-05	2.599e-05	2.287e-05	3.227e-05	0.0026	2.045e-05	1.79e-05	0.0016	0.0013	0	8.52e-05	0	0	0	0.0026	1.484e-05	3.461e-05	2.534e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0	1.47e-05	0.0010	0	0.001	0.78490	D	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.845	0.48678	L	1.01	0.41058	T	-4.88	0.81350	D	0.9	0.90025	.	.	.	.	.	.	.	0.8724079	0.86513	D	0.019733	0.42166	T	.	.	.	.	0.72159696503	0.71914	0.5377875395438697	0.53703	.	.	0.526238679886	0.42504	T	0.104015	0.41321	T	-0.108732	0.34978	T	-0.263512	0.48473	T	.	.	.	0.677032	0.28590	T	0.5900888	0.72155	0.5595434	0.74517	0.5900888	0.72157	0.5595434	0.74518	-9.334	0.69821	D	.	.	0.380	0.58422	A	.	.	2.806225	0.36928	20.4	0.99336964696335039	0.60012	0.57168	0.30306	D	AEDI	0.081946	0.16586	N	.	.	.	.	.	.	1.17913618149088E-4	0.05269	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.79	3.57	0.40014	0.500000	0.22270	-0.069000	0.12322	0.665000	0.62972	0.610000	0.27830	0.006000	0.19429	0.751000	0.35822	0.0:0.0982:0.0:0.9018	7.533	0.26862	864	0.32732	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1915.43	35	chr4	56596552	.	T	A	1915.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.842;DP=468;ExcessHet=0;FS=1.245;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.947;SOR=0.738	GT:AD:DP:GQ:PL	0/1:72,88:160:99:1927,0,1560	9	0	1	0
chr4	70053100	70053100	A	C	exonic	HTN1	.	nonsynonymous SNV	HTN1:NM_001368990:exon2:c.A24C:p.L8F,HTN1:NM_002159:exon2:c.A24C:p.L8F	.	525	993	3	1	0	5	0.0025113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00137863768974	0.0017	0.00119808	0.0015	0.0007	0.0012	0	0	0.0017	0.0023	0.0027	0.0014489	224	154602	rs146406150	0.0019	0.0019	0.0018	0.0019	0.0023	0.0018	0.0018	0.0021	0.0020	0.0003	0.0009	0.0007	0	0.0003	0.0016	0.0021	0.0018	0.0023	0.0012	0.0012	0.0013	0.0012	0.0027	0.0011	0.0010	0.0017	0.0016	0.0004	0.0132	0.0005	0	0	0.0002	0	0.0020	0.0014	0.0027	0.0	0.91255	D	0.0	0.92824	D	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	0.69	0.51714	T	-2.46	0.53736	N	0.174	0.18649	-1.0344	0.19046	T	0.070	0.28544	T	8	0.005103171	0.00110	T	0.001379	0.02011	T	0.040	0.10527	0.243	0.17677	0.0611884634855	0.05136	0.005228407341580843	0.00493	0.00111161326673	0.00094	0.309178590775	0.11783	T	0.006744	0.06169	T	-0.57978	0.00193	T	-0.610828	0.11917	T	0.00715924131781739	0.00082	T	.	.	.	0.23434238	0.46253	0.19581021	0.43278	0.23434238	0.46253	0.19581021	0.43277	-4.323	0.28498	T	.	.	0.068	0.02927	B	.;.;.	.;.;.	-0.764697	0.01179	0.057	0.88004297366367401	0.17644	0.00283	0.01525	N	AEFI	0.020697	0.00843	N	-1.52082105526498	0.01713	0.07497391	-1.67736139498243	0.01241	0.05591126	1.38129624659821E-4	0.05486	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.93	-3.86	0.03951	-3.086000	0.00673	-8.272000	0.00998	-0.303000	0.06174	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.3442:0.2762:0.1669:0.2127	0.373	0.00356	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1310.43	33	chr4	70053100	.	A	C	1310.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.267;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.92;MQRankSum=-1.061;QD=9.5;ReadPosRankSum=-1.262;SOR=0.709	GT:AD:DP:GQ:PL	0/1:74,64:138:99:1322,0,1727	9	0	1	0
chr4	76739350	76739350	G	C	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon5:c.G1177C:p.A393P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.0632131570835	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200056000	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.076	0.42614	T	0.997	0.70673	D	0.932	0.66722	D	0.134878	0.18501	N	0.540287	0.94643	0.37527	D	2.36	0.67893	M	0.08	0.61559	T	-2.96	0.61722	D	0.541	0.56833	-0.2255	0.77006	T	0.356	0.71897	T	10	0.34037745	0.51107	T	0.063213	0.68897	D	0.288	0.60691	0.072	0.00442	0.497343540673	0.49367	0.34908827351521876	0.34822	1.07399651104	0.76911	0.450027406216	0.31947	T	0.568422	0.85670	D	-0.0314414	0.47208	T	-0.101412	0.63289	T	0.88046932220459	0.53048	D	0.889011	0.61998	D	0.3877715	0.59873	0.5016172	0.71188	0.3877715	0.59874	0.5016172	0.71189	-11.87	0.84212	D	.	.	0.482	0.63745	A	.;.	.;.	2.594927	0.33671	19.41	0.99690208298544458	0.79909	0.96609	0.70000	D	AEFDBCI	0.582537	0.58212	D	0.460901204770962	0.64823	4.745878	0.376617614976519	0.60125	4.196894	0.999999041519795	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.63	3.89	0.44098	2.925000	0.48580	2.578000	0.33400	0.676000	0.76740	0.980000	0.35271	0.810000	0.27029	0.646000	0.32584	0.1386:0.0:0.8614:0.0	12.274	0.54039	547	0.72440	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2559.14	111	chr4	76739350	.	G	C	2559.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.07;DP=1039;ExcessHet=0.2348;FS=6.307;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=1.35;SOR=1.069	GT:AD:DP:GQ:PL	0/1:77,54:131:99:1286,0,1841	8	0	2	0
chr4	78887246	78887246	A	G	exonic	BMP2K	.	nonsynonymous SNV	BMP2K:NM_198892:exon15:c.A2024G:p.E675G	.	429	1077	15	1	0	17	0.00783049	.	.	.	2367501	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.205	0.0245590713657	0.0007	0.000199681	0.0012	0	0.0002	0	0	0.0018	0.0029	0.0017	0.0008538	132	154602	rs200263125	0.0006	0.0006	0.0005	0.0007	0.0068	0.0006	0.0006	0.0051	0.0045	2.99e-05	0.0009	0.0023	2.527e-05	0	0.0068	0.0005	0.0012	0.0013	0.0008	0.0008	0.0007	0.0010	0.0033	0.0007	0.0007	0.0026	0.0023	7.217e-05	0	0.0033	0.0023	0	0	0	0.0008	0.0014	0.0015	0.024	0.47745	D	0.125	0.35330	T	0.998	0.73220	D	0.82	0.59072	P	0.002806	0.35900	N	0.235974	0.999898	0.81001	D	1.1	0.28011	L	2.26	0.17596	T	-2.54	0.55025	D	0.363	0.40465	-1.1317	0.01703	T	0.072	0.29323	T	10	0.021440357	0.00513	T	0.024559	0.47547	T	0.205	0.49236	.	.	0.301789629655	0.29801	0.22425452088601844	0.22340	0.0933479579245	0.10547	0.49670124054	0.38368	T	0.092704	0.39060	T	-0.406056	0.02112	T	-0.396581	0.33782	T	0.0695041567087173	0.08581	T	0.632437	0.24680	T	0.19723512	0.41580	0.28775573	0.54789	0.19723512	0.41580	0.28775573	0.54788	-7.551	0.57968	D	.	.	0.161	0.35519	B	.	.	3.805334	0.54855	23.5	0.99666813080586869	0.78330	0.98762	0.86525	D	AEFBI	0.612027	0.60026	D	0.533700047762684	0.69097	5.308727	0.572181772952192	0.72952	5.891761	0.999999958919782	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	5.79	5.79	0.91751	6.162000	0.71691	8.070000	0.76436	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.144	0.81367	551	0.72115	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.008152	0.002924	0.000000	0.000000	0.009146	0.011364	0.1	2435.14	33	chr4	78887246	.	A	G	2435.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.325;DP=502;ExcessHet=0.2348;FS=0.491;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=1.65;SOR=0.629	GT:AD:DP:GQ:PL	0/1:56,65:121:99:1391,0,1161	8	0	2	0
chr4	82429582	82429590	GCCGCGGCG	-	exonic	HNRNPDL	.	nonframeshift deletion	HNRNPDL:NM_001207000:exon1:c.101_109del:p.P34_R36del,HNRNPDL:NM_031372:exon1:c.101_109del:p.P34_R36del	Muscular dystrophy, limb-girdle, type 1G, Autosomal dominant	420	1099	3	0	0	3	0.00136302	.	.	.	562278	Autosomal_dominant_limb-girdle_muscular_dystrophy_type_1G	MONDO:MONDO:0012193,MedGen:C1836765,OMIM:609115,Orphanet:55596	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0033	.	0.0004	0.0019	0	0	0	0	0	0	3.84e-05	1	26028	rs759911561	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0003	0.0003	0	0	0.0001	2.544e-05	0.0003	0.0003	0.0003	5.498e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0002	0.0001	0.0003	0	0	0	0	0	0	0.0003	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1125.11	20	chr4	82429581	.	TGCCGCGGCG	T	1125.11	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.669;DP=194;ExcessHet=0.2348;FS=5.562;InbreedingCoeff=-0.1112;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=29.61;ReadPosRankSum=1.44;SOR=0.442	GT:AD:DP:GQ:PL	0/1:8,18:26:99:732,0,271	8	0	2	0
chr4	83407530	83407530	G	T	exonic	HELQ	.	nonsynonymous SNV	HELQ:NM_001297755:exon17:c.C3028A:p.Q1010K,HELQ:NM_001297757:exon17:c.C1597A:p.Q533K,HELQ:NM_001297756:exon18:c.C1738A:p.Q580K,HELQ:NM_133636:exon18:c.C3229A:p.Q1077K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.0400541101276	.	0.00179712	0.0005	0	0	0	0	0	0	0.0036	0.0004398	68	154602	rs533353933	0.0002	0.0002	9.135e-05	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	7.709e-05	0.0002	0.0050	0.0001	9.235e-05	0.0034	0.0029	0	0	0	0	0	0	0	0	0	0.0050	0.22	0.27544	T	0.578	0.08565	T	0.376	0.45919	B	0.055	0.42432	B	0.000001	0.84330	D	0.055699	0.999918	0.53665	D	2.125	0.59049	M	0.3	0.62459	T	-1.69	0.41046	N	0.302	0.42834	-0.7761	0.56520	T	0.214	0.57573	T	10	0.00757882	0.00172	T	0.040054	0.59162	D	0.234	0.53644	0.334	0.32167	0.79015365589	0.78820	0.512810849085354	0.51203	0.20162608318	0.22570	0.418745875359	0.27665	T	0.002409	0.17967	T	-0.322717	0.06678	T	-0.238759	0.50920	T	0.181958470479372	0.19358	T	0.824218	0.48580	T	0.34922653	0.57007	0.2405819	0.49435	0.34922653	0.57007	0.2405819	0.49434	-8.291	0.63035	D	.	.	0.093	0.13923	B	.;.	.;.	3.408923	0.47274	22.4	0.96934084764247053	0.31668	0.96524	0.69570	D	AEFBI	0.731080	0.67827	D	0.171820404454982	0.49849	3.180869	0.252895929262108	0.52813	3.45376	0.999916169803954	0.45857	0.693126	0.56070	0	0.659464	0.62310	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.03	5.03	0.67015	7.008000	0.76089	8.355000	0.77019	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.311000	0.24761	0.0:0.0:1.0:0.0	18.330	0.90206	823	0.40596	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	583.43	34	chr4	83407530	.	G	T	583.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.342;DP=352;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-1.193;SOR=0.6	GT:AD:DP:GQ:PL	0/1:23,26:49:99:595,0,567	9	0	1	0
chr4	87047013	87047013	C	A	exonic	AFF1	.	nonsynonymous SNV	AFF1:NM_001313959:exon3:c.C457A:p.P153T,AFF1:NM_005935:exon3:c.C457A:p.P153T,AFF1:NM_001166693:exon4:c.C478A:p.P160T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0300723701741	0.0017	0.000798722	0.0004	0.0049	0.0003	0	0	0	0	0	0.0003752	58	154602	rs61734711	0.0001	0.0001	0.0001	9.488e-05	0.0038	9.4e-05	8.883e-05	0.0033	0.0031	0.0038	0.0002	0	0	0	0	1.799e-06	0.0003	0	0.0013	0.0013	0.0013	0.0012	0.0044	0.0011	0.0011	0.0039	0.0037	0.0044	0	0.0006	0	0	0	0	1.47e-05	0	0	0.16	0.23721	T	0.601	0.08715	T	0.08	0.24543	B	0.062	0.26930	B	0.846732	0.07032	U	1.117560	1	0.08975	N	1.415	0.35607	L	-0.08	0.63911	T	-2.46	0.53736	N	0.233	0.26354	-0.8669	0.50761	T	0.223	0.58742	T	10	0.00528419	0.00115	T	0.030072	0.52455	D	0.047	0.12962	.	.	0.484329738948	0.48065	0.25401190858467837	0.25315	0.275121432824	0.29997	0.21106608212	0.00857	T	0.050487	0.47905	T	-0.473289	0.00811	T	-0.452219	0.27451	T	0.046157782892426	0.04813	T	0.884611	0.60805	D	0.13276556	0.30903	0.11703254	0.28251	0.13276556	0.30903	0.11703254	0.28251	-4.427	0.30652	T	.	.	0.067	0.03162	B	.;.;.;.;.	.;.;.;.;.	0.554674	0.09233	6.015	0.075426566425163322	0.00044	0.18383	0.20238	N	AEFDBI	.	.	.	-0.736899832348498	0.14991	0.751616	-0.865687812368389	0.12910	0.6668804	0.999769633455647	0.42728	0.722319	0.85440	0	0.697927	0.68747	0	0.723133	0.82415	0	0.735409	0.98432	0	.	.	5.71	-1.87	0.07317	-0.051000	0.11840	0.505000	0.19029	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1699:0.303:0.3787:0.1484	3.310	0.06601	780	0.47616	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1819.43	34	chr4	87047013	.	C	A	1819.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.1;DP=465;ExcessHet=0;FS=1.274;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.501;SOR=0.778	GT:AD:DP:GQ:PL	0/1:75,76:151:99:1831,0,1947	9	0	1	0
chr4	87195337	87195337	T	A	exonic	KLHL8	.	nonsynonymous SNV	KLHL8:NM_001292003:exon2:c.A203T:p.D68V,KLHL8:NM_001292006:exon2:c.A203T:p.D68V,KLHL8:NM_001292007:exon2:c.A203T:p.D68V,KLHL8:NM_020803:exon2:c.A203T:p.D68V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.712887787306	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1349537086	1.37e-06	2.052e-06	1.363e-06	1.377e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.995e-07	0	0	6.57e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.046479	1	0.81001	D	4.435	0.98769	H	-2.85	0.91363	D	-7.97	0.96368	D	0.976	0.98657	1.072	0.98636	D	0.909	0.96972	D	10	0.9869686	0.99036	D	0.712888	0.97667	D	0.946	0.98921	0.938	0.99130	0.980709010365	0.98049	0.9197212450678696	0.91948	1.55586283606	0.87969	0.757380068302	0.75540	T	0.771662	0.93893	D	0.486884	0.93919	D	0.461599	0.93841	D	0.999767959117889	0.98882	D	0.969303	0.88939	D	0.9140215	0.92673	0.8546341	0.91816	0.9140215	0.92674	0.8546341	0.91816	-16.154	0.97983	D	.	.	0.996	0.96595	P	.;.;.;.	.;.;.;.	4.938713	0.81482	27.6	0.99307919088402763	0.58869	0.97837	0.77499	D	AEFGBI	0.868725	0.78897	D	0.87722993309663	0.90600	10.47838	0.791917809429253	0.89225	9.88878	0.999999998095101	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.527494	0.11647	0	0.655142	0.61905	0	.	.	5.34	5.34	0.75982	7.502000	0.80447	7.789000	0.68848	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0:0.0:0.0:1.0	15.318	0.73804	797	0.45241	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	1547.14	33	chr4	87195337	.	T	A	1547.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.242;DP=395;ExcessHet=0.2348;FS=2.486;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.681;SOR=0.483	GT:AD:DP:GQ:PL	0/1:30,33:63:99:793,0,727	8	0	2	0
chr4	87615923	87615924	CA	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1074	227	3	1	217	222	0.0108932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	443.54	16	chr4	87615923	.	CA	*	443.54	.	AC=10;AF=0.714;AN=14;DP=237;ExcessHet=0;FS=1.018;InbreedingCoeff=0.5238;MLEAC=12;MLEAF=0.857;MQ=50.57;QD=3.33;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,4:15:99:1|0:87615883_A_G:630,462,450:87615883	1	4	2	3
chr4	87615925	87615936	GTGACAGCAGCA	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	1073	228	3	1	217	222	0.010846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	443.54	16	chr4	87615925	.	GTGACAGCAGCA	*	443.54	.	AC=10;AF=0.714;AN=14;DP=237;ExcessHet=0;FS=1.018;InbreedingCoeff=0.5238;MLEAC=12;MLEAF=0.857;MQ=50.57;QD=3.33;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,4:15:99:1|0:87615883_A_G:630,462,450:87615883	1	4	2	3
chr4	87615936	87615936	A	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1110	191	63	131	27	352	0.459689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	2341.51	12	chr4	87615936	.	A	*	2341.51	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.37;DP=206;ExcessHet=0;FS=1.176;InbreedingCoeff=0.5238;MLEAC=5;MLEAF=0.357;MQ=52.77;MQRankSum=-2.984;QD=19.04;ReadPosRankSum=-1.078;SOR=0.995	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,11:14:93:0|1:87615883_A_G:588,126,93:87615883	4	1	2	3
chr4	88265027	88265027	C	T	exonic	PPM1K	.	nonsynonymous SNV	PPM1K:NM_152542:exon6:c.G961A:p.E321K	.	.	.	.	.	.	.	.	.	.	.	698678	Maple_syrup_urine_disease,_mild_variant|not_provided	MONDO:MONDO:0014057,MedGen:C3554575,OMIM:615135,Orphanet:511|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.138	.	0.0106	0.0105831	0.0028	0.0308	0.0016	0	0	5.998e-05	0.0011	6.056e-05	0.0027749	429	154602	rs35523553	0.0010	0.0010	0.0011	0.0008	0.0322	0.0009	0.0009	0.0306	0.0300	0.0322	0.0020	0	2.519e-05	0	0.0009	5.845e-05	0.0026	9.275e-05	0.0088	0.0088	0.0092	0.0084	0.0298	0.0084	0.0082	0.0284	0.0279	0.0298	0	0.0050	0	0	0	0.0034	0.0001	0.0066	0	.	.	.	0.079	0.47097	T	0.803	0.45133	P	0.301	0.41090	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.57	0.39626	L	.	.	.	.	.	.	0.648	0.65930	-1.1507	0.01004	T	0.016	0.06569	T	10	0.00920701	0.00208	T	.	.	.	.	.	.	.	0.317378411342	0.31341	0.7216699180538069	0.72110	0.496838642824	0.48184	0.562653064728	0.47641	T	0.234703	0.60179	T	-0.31415	0.07387	T	-0.199657	0.54679	T	0.0376512945087248	0.03271	T	0.790321	0.43132	T	0.666243	0.76232	0.5127588	0.71845	0.666243	0.76233	0.5127588	0.71845	-7.829	0.59899	D	.	.	0.352	0.56728	A	.;.	.;.	3.899918	0.56807	23.8	0.99891446493598224	0.96513	0.98960	0.89201	D	AEFBI	0.777875	0.71055	D	0.297386825169747	0.56016	3.76581	0.347674438163293	0.58366	4.006874	0.999999998007228	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.21	5.21	0.72005	5.963000	0.70086	5.790000	0.49863	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.155000	0.20479	0.0:1.0:0.0:0.0	18.059	0.89297	670	0.60992	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;PPM-type phosphatase domain|PPM-type phosphatase domain|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	0	0	1	0	0.002014	0.005051	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1150.43	33	chr4	88265027	.	C	T	1150.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.601;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-1.774;SOR=0.693	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1162,0,1101	9	0	1	0
chr4	89113579	89113579	G	A	exonic	TIGD2	.	nonsynonymous SNV	TIGD2:NM_001382380:exon2:c.G605A:p.C202Y,TIGD2:NM_145715:exon2:c.G605A:p.C202Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0065	0.00459265	0.0016	0.0181	0.0005	0	0	1.504e-05	0.0033	6.057e-05	0.0015394	238	154602	rs78983503	0.0005	0.0005	0.0006	0.0004	0.0185	0.0005	0.0005	0.0173	0.0168	0.0185	0.0008	0	0	0	0.0009	1.259e-05	0.0012	2.319e-05	0.0048	0.0048	0.0052	0.0044	0.0165	0.0045	0.0044	0.0154	0.0150	0.0165	0	0.0023	0	0	0	0	7.35e-05	0.0028	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.141785	0.18265	N	0.292413	1	0.08975	N	-1.74	0.00328	N	1.01	0.41058	T	1.88	0.00467	N	0.043	0.02088	-0.9850	0.33832	T	0.012	0.04558	T	10	0.0025988221	0.00040	T	.	.	.	0.035	0.08770	.	.	0.0846915920261	0.08053	0.1623757133154859	0.16157	0.202476660202	0.22669	0.499085187912	0.38701	T	0.005093	0.04527	T	-0.64563	0.00077	T	-0.686553	0.06591	T	0.00131607382943967	0.00013	T	0.327067	0.06771	T	0.04376776	0.06881	0.06339459	0.12551	0.04376776	0.06881	0.06339459	0.12551	-0.745	0.00757	T	.	.	0.066	0.02091	B	.;.	.;.	1.008302	0.13873	10.43	0.63667864806010199	0.07285	0.09547	0.15278	N	ALL	0.021738	0.01002	N	-1.05825116238452	0.07426	0.3449592	-0.822416593216146	0.13953	0.7265648	0.999999998197703	0.74766	0.653281	0.48532	0	0.659037	0.61890	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	3.97	1.53	0.22224	0.930000	0.28458	2.955000	0.35730	-0.118000	0.14412	0.124000	0.23245	0.982000	0.30508	0.994000	0.71098	0.6359:0.0:0.364:0.0	5.827	0.17818	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1272.43	34	chr4	89113579	.	G	A	1272.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.413;DP=438;ExcessHet=0;FS=4.54;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.853;SOR=0.522	GT:AD:DP:GQ:PL	0/1:62,54:116:99:1284,0,1530	9	0	1	0
chr4	89935826	89935826	C	T	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon6:c.C2146T:p.R716C,MMRN1:NM_001371403:exon7:c.C2146T:p.R716C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0991169035158	0.0002	0.000199681	9.169e-05	0.0010	0	0	0	1.516e-05	0	0	7.76e-05	12	154602	rs377031358	2.875e-05	2.873e-05	2.452e-05	3.302e-05	0.0009	2.153e-05	1.909e-05	0.0007	0.0006	0.0009	4.477e-05	0	0	0	0	7.197e-06	0	1.161e-05	0.0002	0.0002	0.0002	8.074e-05	0.0005	0.0001	8.729e-05	0.0003	0.0003	0.0005	0	0	0	0.0002	0	0	0	0	0.0002	0.001	0.78490	D	0.01	0.65728	D	1.0	0.90584	D	0.877	0.62241	P	0.000917	0.41128	D	0.155264	0.914517	0.81001	D	2.52	0.73523	M	-0.02	0.68474	T	-2.11	0.48020	N	0.317	0.36148	-0.1423	0.79108	T	0.407	0.75692	T	10	0.08238217	0.13590	T	0.099117	0.77055	D	0.243	0.54921	.	.	0.86608176546	0.86478	0.5147325280895364	0.51396	0.0133904734343	0.01285	0.322573423386	0.13810	T	0.265605	0.64185	T	-0.250791	0.14000	T	-0.189368	0.55649	T	0.19888277296265	0.20354	T	0.767123	0.39533	T	0.17932563	0.38998	0.09769691	0.23264	0.17932563	0.38997	0.09769691	0.23264	-7.212	0.55568	T	.	.	0.132	0.34227	B	.;.;.	.;.;.	3.289760	0.45108	22.1	0.99918293401930702	0.98586	0.27668	0.23342	N	AEFBI	0.175721	0.30291	N	0.275265146663158	0.54898	3.65445	0.177391980784606	0.48609	3.074689	0.00620444183217637	0.11156	0.744818	0.98587	0	0.573888	0.26702	0	0.573888	0.23631	0	0.76194	0.99817	0	.	.	5.2	4.35	0.51454	0.864000	0.27581	2.363000	0.32383	0.599000	0.40250	0.131000	0.23362	0.998000	0.33993	0.531000	0.29730	0.2792:0.7208:0.0:0.0	13.718	0.62194	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	.	.	.	.	.	.	.	.	0.05	1641.43	36	chr4	89935826	.	C	T	1641.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=500;ExcessHet=0;FS=1.489;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=0.295;SOR=0.563	GT:AD:DP:GQ:PL	0/1:56,61:117:99:1653,0,1410	9	0	1	0
chr4	103145116	103145116	T	G	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon31:c.A4716C:p.R1572S,CENPE:NM_001813:exon32:c.A4791C:p.R1597S	.	496	1024	1	1	0	3	0.0014627	.	.	.	428244	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.230	.	0.0047	0.00319489	0.0042	0.0011	0.0037	0	0.0011	0.0065	0.0011	0.0008	0.0042949	664	154602	rs61751594	0.0054	0.0054	0.0054	0.0054	0.0065	0.0053	0.0052	0.0064	0.0063	0.0008	0.0035	0.0026	5.048e-05	0.0009	0.0019	0.0065	0.0046	0.0008	0.0042	0.0042	0.0045	0.0039	0.0070	0.0040	0.0039	0.0065	0.0063	0.0013	0	0.0050	0.0023	0.0002	0.0008	0.0102	0.0070	0.0085	0	0.411	0.10115	T	0.094	0.39645	T	0.968	0.59353	D	0.655	0.55577	P	.	.	.	.	0.999999	0.08975	N	2.075	0.57047	M	-0.39	0.70133	T	-1.13	0.29114	N	0.129	0.12913	-0.8139	0.54312	T	0.192	0.54463	T	9	0.0038477182	0.00073	T	.	.	.	0.230	0.53062	0.13	0.03494	0.797680560102	0.79579	0.07355365648093938	0.07292	0.0425273998097	0.04582	0.274155676365	0.06690	T	0.050411	0.28586	T	-0.39824	0.02378	T	-0.340675	0.40267	T	0.0200367182582501	0.00704	T	0.60444	0.22695	T	0.052448664	0.09784	0.05287378	0.08797	0.083455764	0.19272	0.06080644	0.11639	-4.334	0.28651	T	0.3300402619742247	0.42807	0.251	0.49275	B	.;.;.	.;.;.	0.458822	0.08286	5.032	0.89292736420364571	0.18673	0.07829	0.13823	N	AEFBHCI	0.074405	0.14912	N	-0.92808812049102	0.10189	0.4857249	-1.12977914093483	0.07136	0.3459941	0.867737134070025	0.25352	0.732398	0.92422	0	0.724815	0.89359	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	4.19	-3.12	0.04959	-1.062000	0.03579	-3.637000	0.02640	-0.228000	0.07776	0.000000	0.06391	0.000000	0.08366	0.917000	0.45243	0.0:0.3624:0.0:0.6376	10.083	0.41572	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	0.003525	0.005051	0.001359	0.000000	0.000000	0.000000	0.012195	0.003788	0.05	649.43	39	chr4	103145116	.	T	G	649.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.579;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.55;SOR=0.892	GT:AD:DP:GQ:PL	0/1:20,29:49:99:661,0,502	9	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	.	.	.	.	.	.	.	.	0.35	639.89	106	chr4	106925843	.	C	T	639.89	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.655;DP=1109;ExcessHet=7.0302;FS=156.498;InbreedingCoeff=-0.5348;MLEAC=7;MLEAF=0.35;MQ=59.99;MQRankSum=0;QD=0.65;ReadPosRankSum=1.63;SOR=10.97	GT:AD:DP:GQ:PL	0/1:135,34:169:15:15,0,2323	3	0	7	0
chr4	121879767	121879767	T	G	exonic	TRPC3	.	nonsynonymous SNV	TRPC3:NM_001366479:exon11:c.A2651C:p.K884T,TRPC3:NM_003305:exon11:c.A2516C:p.K839T,TRPC3:NM_001130698:exon12:c.A2735C:p.K912T	.	423	1098	1	0	0	1	0.000455166	.	.	.	2099441	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.348	.	7.7e-05	0.00519169	0.0034	0	8.682e-05	0	0	3.001e-05	0.0011	0.0250	0.002956	457	154602	rs145948370	0.0015	0.0015	0.0008	0.0021	0.0235	0.0014	0.0014	0.0226	0.0223	9.028e-05	6.825e-05	3.836e-05	0.0001	0	0.0010	1.891e-05	0.0013	0.0235	0.0008	0.0008	0.0005	0.0012	0.0253	0.0007	0.0007	0.0216	0.0203	2.405e-05	0	0	0	0	0	0	4.41e-05	0	0.0253	0.019	0.53172	D	0.099	0.47828	T	.	.	.	.	.	.	0.000004	0.62929	D	0.062767	0.999947	0.52935	D	.	.	.	-0.95	0.78314	T	-2.12	0.49519	N	0.32	0.48227	-0.1374	0.79228	T	0.429	0.77160	T	10	0.006897241	0.00157	T	.	.	.	0.348	0.66956	.	.	0.84014280636	0.83862	0.7956241876983184	0.79515	0.932353545446	0.71882	0.647611618042	0.59647	T	.	.	.	-0.296391	0.09005	T	-0.180268	0.56499	T	0.0400294988163866	0.03696	T	0.845015	0.52334	T	.	.	.	.	.	.	.	.	-1.364	0.01508	T	.	.	0.150	0.49314	B	.;.;.	.;.;.	3.884680	0.56480	23.7	0.99496235126679466	0.67744	0.97500	0.75152	D	AEFGBI	0.721657	0.67183	D	0.285646308575517	0.55418	3.706114	0.396531322400193	0.61352	4.333967	0.994117993291492	0.33494	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	6.16	4.92	0.64147	4.264000	0.58657	6.050000	0.53084	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.1322:0.8678	13.249	0.59470	847	0.35998	.;.;.	.	.	.	.	.	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	0.002518	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.007576	0.05	1199.43	36	chr4	121879767	.	T	G	1199.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=428;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.248;SOR=0.696	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1211,0,1114	9	0	1	0
chr4	144019265	144019265	A	G	exonic	GYPB	.	nonsynonymous SNV	GYPB:NM_002100:exon1:c.T23C:p.V8A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0017093229967	.	.	9.537e-06	0	0	0	0	0	0	6.744e-05	3.84e-05	1	26028	rs768488450	6.849e-06	6.841e-06	8.177e-06	5.506e-06	3.482e-05	3.46e-06	2.53e-06	9.25e-06	4.56e-06	0	0	0	0	0	0	6.299e-06	0	3.482e-05	6.602e-06	6.576e-06	1.291e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.014	0.92824	D	.	.	.	.	.	.	0.842928	0.09020	N	0.886806	1	0.18612	N	.	.	.	2.9	0.12371	T	-1.39	0.36586	N	0.272	0.38232	-0.9767	0.35749	T	0.024	0.10058	T	9	0.09186214	0.16128	T	0.001709	0.02856	T	0.009	0.00846	0.512	0.61000	0.0138822411134	0.00435	0.07243066993356	0.07180	0.0115312063722	0.01082	.	.	.	0.00879	0.08043	T	-0.329757	0.06130	T	-0.610819	0.11918	T	0.430575758218765	0.30082	T	0.668433	0.27736	T	0.07279364	0.16219	0.07971893	0.17970	0.07279364	0.16218	0.07971893	0.17970	-4.204	0.26809	T	.	.	0.628	0.70012	P	.;.;.;.	.;.;.;.	-0.234554	0.02918	0.424	0.81209836513651568	0.13573	0.10643	0.16091	N	AEFBHCI	0.094644	0.19134	N	-1.04910788886775	0.07605	0.3538489	-1.17306328994416	0.06362	0.3060458	0.977786240271758	0.29855	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	1.96	-0.294	0.12196	-1.415000	0.02575	-1.667000	0.04953	0.359000	0.20063	0.000000	0.06391	0.000000	0.08366	0.193000	0.21690	0.6146:0.0:0.3854:0.0	3.945	0.08841	702	0.57624	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2095.43	34	chr4	144019265	.	A	G	2095.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.27;DP=510;ExcessHet=0;FS=0.546;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.27;MQRankSum=1.09;QD=11.39;ReadPosRankSum=0.007;SOR=0.642	GT:AD:DP:GQ:PL	0/1:97,87:184:99:2107,0,2241	9	0	1	0
chr4	151103023	151103023	G	A	exonic	RPS3A	.	nonsynonymous SNV	RPS3A:NM_001006:exon4:c.G507A:p.M169I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.00686029040995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1436635204	6.902e-07	6.84e-07	1.374e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	6.577e-06	6.569e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.268	0.23095	T	0.408	0.18178	T	0.0	0.02946	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	1.32	0.33002	L	.	.	.	0.14	0.07444	N	0.637	0.67391	-1.0242	0.22344	T	0.117	0.41320	T	8	0.34009916	0.51084	T	0.00686	0.18149	T	0.334	0.65620	0.408	0.44230	0.627663019148	0.62462	0.7306565370976658	0.73010	1.13218365852	0.78658	0.869548678398	0.92504	D	0.147248	0.48524	T	0.068823	0.60705	T	-0.138917	0.60212	T	0.846623420715332	0.49877	D	0.847115	0.53695	T	0.28637308	0.51653	0.41686863	0.65758	0.28637308	0.51653	0.41686863	0.65758	-3.573	0.17467	T	.	.	0.617	0.73107	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.243576	0.64354	24.7	0.98778506812740785	0.46096	0.98938	0.88891	D	AEFBCI	0.957422	0.97660	D	-0.00885846253619124	0.41453	2.479791	0.217608414180812	0.50825	3.270524	0.999999999999999	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.89	4.89	0.63387	9.855000	0.98396	11.532000	0.93092	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.476	0.90742	639	0.64210	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	81.14	35	chr4	151103023	.	G	A	81.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.728;DP=499;ExcessHet=0.2348;FS=90.595;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=54.61;MQRankSum=-0.997;QD=0.55;ReadPosRankSum=2.05;SOR=6.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,15:70:67:0|1:151103022_T_C:67,0,1131:151103022	8	0	2	0
chr4	154332812	154332812	C	T	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001142552:exon5:c.G3396A:p.M1132I,DCHS2:NM_001358235:exon5:c.G3396A:p.M1132I	.	9	1512	1	0	0	1	0.000330579	.	.	.	2213505	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	0.00851541788381	0.0003	0.000599042	0.0001	0.0009	8.639e-05	0	0	2.997e-05	0.0011	6.056e-05	0.0001229	19	154602	rs112836372	6.772e-05	6.772e-05	6.67e-05	6.875e-05	0.0031	5.67e-05	5.26e-05	0.0020	0.0017	0.0011	4.472e-05	7.652e-05	0	0	0.0031	1.709e-05	0.0003	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	4.409e-05	0.0005	0	0.392	0.10766	T	0.351	0.17425	T	.	.	.	.	.	.	0.392555	0.04486	N	1.480490	0.999999	0.08975	N	.	.	.	0.7	0.51474	T	-0.42	0.14193	N	0.14	0.13911	-1.0713	0.09129	T	0.090	0.34463	T	10	0.01261425	0.00270	T	0.008515	0.22507	T	0.048	0.13305	.	.	0.0986583533028	0.09354	0.11701380185403844	0.11629	0.0779575711569	0.08777	0.261662632227	0.05090	T	.	.	.	-0.570478	0.00220	T	-0.684964	0.06685	T	0.00390581436297483	0.00041	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.23005	B	.;.	.;.	0.000001	0.04284	1.071	0.61641362379722675	0.06760	0.11911	0.16940	N	AEFBCI	0.062881	0.12117	N	-1.3649620315182	0.02972	0.1320818	-1.34489501527293	0.03866	0.1812267	0.801170940046395	0.24189	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.613276	0.41899	0	.	.	5.06	-0.447	0.11623	-0.131000	0.10461	-2.490000	0.03690	-0.838000	0.02813	0.002000	0.15269	0.000000	0.08366	0.092000	0.17891	0.0:0.3461:0.1409:0.5131	5.704	0.17166	742	0.52873	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.002717	0.014620	0.000000	0.000000	0.000000	0.000000	0.05	790.43	35	chr4	154332812	.	C	T	790.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.062;DP=404;ExcessHet=0;FS=1.719;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.07;ReadPosRankSum=0.408;SOR=0.963	GT:AD:DP:GQ:PL	0/1:63,35:98:99:802,0,1640	9	0	1	0
chr4	154332899	154332899	C	T	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001142552:exon5:c.G3309A:p.M1103I,DCHS2:NM_001358235:exon5:c.G3309A:p.M1103I	.	9	1512	1	0	0	1	0.000330579	.	.	.	2213504	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.067	0.00269720108092	0.0003	0.000599042	0.0001	0.0009	8.637e-05	0	0	2.999e-05	0.0011	6.056e-05	0.0001229	19	154602	rs113845841	6.977e-05	6.977e-05	7.078e-05	6.875e-05	0.0031	5.846e-05	5.457e-05	0.0020	0.0017	0.0011	4.472e-05	7.652e-05	0	0	0.0031	1.799e-05	0.0004	1.159e-05	0.0003	0.0003	0.0003	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0.0010	0	0	0	0	0	0	4.41e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.153001	0.17906	N	0.481416	1	0.08975	N	.	.	.	0.92	0.44461	T	1.54	0.00702	N	0.198	0.21839	-0.9823	0.34468	T	0.021	0.08732	T	10	0.009805858	0.00220	T	0.002697	0.05550	T	0.067	0.19503	.	.	0.0666544352282	0.05500	0.08850670014533675	0.08783	0.0779575711569	0.08777	0.430575251579	0.29286	T	.	.	.	-0.638796	0.00085	T	-0.783099	0.02361	T	0.0144125815019627	0.00290	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.05231	B	.;.	.;.	-1.363993	0.00387	0.007	0.47315272521338214	0.03859	0.03075	0.07989	N	AEFGBCI	0.065556	0.12793	N	-2.31747084719849	0.00041	0.001782328	-2.31917809687607	0.00060	0.002640037	0.999999986313767	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.503968	0.08637	0	0.613276	0.41899	0	.	.	5.21	-10.4	0.00257	-1.632000	0.02126	-1.389000	0.05554	-0.749000	0.03603	0.002000	0.15269	0.000000	0.08366	0.032000	0.13371	0.1266:0.2816:0.4906:0.1012	7.576	0.27104	742	0.52873	Cadherin-like;Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.002717	0.014620	0.000000	0.000000	0.000000	0.000000	0.05	1239.43	35	chr4	154332899	.	C	T	1239.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.482;DP=447;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=0.419;SOR=0.662	GT:AD:DP:GQ:PL	0/1:86,55:141:99:1251,0,2101	9	0	1	0
chr4	154333203	154333203	C	A	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001142552:exon5:c.G3005T:p.R1002L,DCHS2:NM_001358235:exon5:c.G3005T:p.R1002L	.	.	.	.	.	.	.	.	.	.	.	2213503	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.0412137987408	0.0002	0.000599042	8.244e-05	0.0008	0	0	0	2.999e-05	0	0	8.41e-05	13	154602	rs139082640	4.446e-05	4.446e-05	4.492e-05	4.4e-05	0.0024	3.575e-05	3.257e-05	0.0015	0.0012	0.0008	2.236e-05	0	0	0	0.0024	1.349e-05	0.0001	1.159e-05	0.0002	0.0002	0.0002	9.397e-05	0.0006	0.0001	0.0001	0.0004	0.0004	0.0006	0	0	0	0	0	0	1.47e-05	0	0	0.059	0.37536	T	0.01	0.65728	D	.	.	.	.	.	.	0.009074	0.30531	N	0.237046	0.784506	0.29829	N	.	.	.	0.65	0.52642	T	-3.97	0.73684	D	0.563	0.58713	-0.9058	0.47355	T	0.165	0.50307	T	10	0.062257648	0.07931	T	0.041214	0.59806	D	0.220	0.51569	.	.	0.384252928164	0.38032	0.2374624852921909	0.23661	0.439132434169	0.43935	0.266890138388	0.05738	T	.	.	.	-0.300477	0.08614	T	-0.311906	0.43453	T	0.348730236291885	0.26969	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.36889	B	.;.	.;.	2.630526	0.34205	19.56	0.99278950328547377	0.57834	0.67714	0.33533	D	ALL	0.428185	0.49182	N	-0.117069128534798	0.36648	2.121279	-0.204678699709804	0.31368	1.774542	0.999997561931293	0.74766	0.443343	0.08805	1	0.606814	0.50340	0	0.666236	0.60216	0	0.651492	0.60203	0	.	.	5.6	2.52	0.29514	1.733000	0.37779	-0.702000	0.07790	-0.176000	0.10722	0.956000	0.33378	0.000000	0.08366	0.164000	0.20782	0.0:0.5473:0.0:0.4527	7.077	0.24388	742	0.52873	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	0.002014	0.000000	0.000000	0.011696	0.000000	0.000000	0.000000	0.000000	0.05	2462.43	35	chr4	154333203	.	C	A	2462.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.57;DP=502;ExcessHet=0;FS=0.531;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.834;SOR=0.629	GT:AD:DP:GQ:PL	0/1:94,97:191:99:2474,0,2094	9	0	1	0
chr4	168898668	168898668	T	C	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.T254C:p.M85T,PALLD:NM_001367569:exon4:c.T254C:p.M85T,PALLD:NM_001166110:exon5:c.T914C:p.M305T,PALLD:NM_001367568:exon5:c.T305C:p.M102T,PALLD:NM_001367570:exon5:c.T305C:p.M102T,PALLD:NM_001166109:exon12:c.T1229C:p.M410T,PALLD:NM_016081:exon13:c.T2375C:p.M792T,PALLD:NM_001166108:exon14:c.T2426C:p.M809T	.	.	.	.	.	.	.	.	.	.	.	4005620	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.279	0.0397687347451	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs781250247	2.07e-06	2.056e-06	4.124e-06	0	2.726e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.726e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.12428	T	0.463	0.23707	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999968	0.81001	D	.	.	.	-0.55	0.71068	T	-2.21	0.72594	N	0.834	0.82964	-0.6935	0.60745	T	0.210	0.56933	T	10	0.30150113	0.47692	T	0.039769	0.58997	D	0.279	0.59619	.	.	0.641199583376	0.63823	0.5348204186873708	0.53407	0.808502915327	0.66620	0.717784404755	0.69723	T	0.08085	0.36460	T	0.141406	0.68459	D	-0.0346559	0.68059	D	0.576772583678845	0.35494	D	0.686731	0.31793	T	.	.	.	.	.	.	.	.	-8.267	0.67607	D	.	.	0.751	0.78309	P	.;.;.;.;.;.	.;.;.;.;.;.	4.050325	0.60035	24.2	0.84874175254793893	0.15549	0.97797	0.77204	D	AEFBI	0.776798	0.70979	D	0.146184386989402	0.48631	3.07305	0.269934385284283	0.53793	3.546451	0.99999999424337	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	6.167000	0.71757	6.181000	0.54632	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:0.0:0.0:1.0	15.690	0.77200	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	.	.	.	.	.	.	.	.	0.25	504.2	65	chr4	168898668	.	T	C	504.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.282;DP=732;ExcessHet=2.8389;FS=90.232;InbreedingCoeff=-0.3343;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.3;ReadPosRankSum=1.44;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,14:69:99:0|1:168898668_T_C:153,0,1735:168898668	5	0	5	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	.	.	.	.	.	.	.	.	0.35	1321.94	65	chr4	168898669	.	G	A	1321.94	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.208;DP=795;ExcessHet=7.0302;FS=119.457;InbreedingCoeff=-0.5379;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=0.663;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,14:69:99:0|1:168898668_T_C:153,0,1735:168898668	3	0	7	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3889	630.24	103	chr4	176711631	.	G	C	630.24	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-1.638;DP=842;ExcessHet=7.0302;FS=94.732;InbreedingCoeff=-0.6311;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.219;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,12:71:26:0|1:176711631_G_C:26,0,1818:176711631	2	0	7	1
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.269832	0.442623	0.240437	0.270270	0.285714	0.236842	0.255725	0.272727	0.4	523.98	19	chr4	189953101	.	C	T	523.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.414;DP=145;ExcessHet=10.3881;FS=0.939;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=52.97;MQRankSum=-2.362;QD=4.52;ReadPosRankSum=0.851;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:189953101_C_T:57,0,331:189953101	2	0	8	0
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	503.01	15	chr4	189953126	.	G	T	503.01	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.366;DP=136;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6672;MLEAC=8;MLEAF=0.4;MQ=52.73;MQRankSum=-2.287;QD=4.57;ReadPosRankSum=0.492;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:189953101_C_T:60,0,327:189953101	2	0	8	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	.	.	.	.	.	.	.	.	0.2	458.71	117	chr4	189957425	.	A	G	458.71	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.074;DP=883;ExcessHet=1.5895;FS=0.781;InbreedingCoeff=-0.2537;MLEAC=4;MLEAF=0.2;MQ=46.42;MQRankSum=-1.461;QD=1.22;ReadPosRankSum=-0.234;SOR=0.874	GT:AD:DP:GQ:PL	0/1:80,21:101:99:255,0,2271	6	0	4	0
chr5	139491	139491	C	A	exonic	PLEKHG4B	.	stopgain	PLEKHG4B:NM_052909:exon3:c.C252A:p.Y84X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.431e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.134501	0.94638	34	0.57942337244801934	0.05881	0.38138	0.25921	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.991213804233656	0.32412	0.252514	0.04256	0	0.063388	0.01293	0	0.295636	0.05589	0	0.062806	0.01542	0	0.126157	0.25284	2.55	0.479	0.16007	0.388000	0.20461	0.012000	0.13456	0.454000	0.21428	0.101000	0.22814	0.056000	0.21938	0.043000	0.14563	0.2659:0.4325:0.0:0.3016	2.045	0.03342	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	33.34	2	chr5	139491	.	C	A	33.34	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.967;DP=16;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:31:40,0,31	4	0	1	5
chr5	1038308	1038325	CACGAGCACCACCACCAC	-	exonic	NKD2	.	nonframeshift deletion	NKD2:NM_033120:exon10:c.1291_1308del:p.E438_H443del	.	440	1071	7	1	3	12	0.0041841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	0.00239617	0.0030	0.0013	0.0058	0	0	0.0015	0	0.0050	9.06e-05	14	154602	rs562708775	0.0015	0.0015	0.0013	0.0016	0.0049	0.0014	0.0014	0.0043	0.0041	0.0011	0.0018	0.0002	0.0049	0.0006	0.0027	0.0013	0.0014	0.0036	0.0017	0.0017	0.0016	0.0018	0.0042	0.0015	0.0015	0.0028	0.0023	0.0013	0.0022	0.0017	0.0003	0.0037	0.0008	0	0.0018	0.0024	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3042.08	40	chr5	1038307	.	GCACGAGCACCACCACCAC	G	3042.08	.	AC=2;AF=0.1;AN=20;DP=442;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=23.21;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,68:68:99:3065,207,0	9	1	0	0
chr5	9629897	9629897	G	A	exonic	TAS2R1	.	nonsynonymous SNV	TAS2R1:NM_019599:exon1:c.C136T:p.L46F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0165823112079	.	.	.	.	.	.	.	.	.	.	.	.	.	rs901174542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.215	0.26306	T	1.0	0.90584	D	0.987	0.77487	D	0.011607	0.29466	N	0.281626	1	0.08975	N	1.33	0.33268	L	1.25	0.36512	T	-2.43	0.53258	N	0.075	0.04913	-1.0389	0.17648	T	0.107	0.38931	T	9	0.45299244	0.58815	T	0.016582	0.37904	T	0.057	0.16321	0.45	0.51121	0.159798565429	0.15598	0.046975642592961296	0.04640	0.134026409472	0.15095	0.217880293727	0.01191	T	0.004687	0.04103	T	-0.20408	0.20219	T	-0.530923	0.19195	T	0.43265606004913	0.30159	T	0.742326	0.36163	T	0.2384049	0.46717	0.22702421	0.47699	0.2384049	0.46717	0.22702421	0.47698	-3.647	0.18539	T	.	.	0.130	0.46025	B	.;.;.	.;.;.	2.009174	0.25529	16.80	0.99553510127103573	0.71273	0.05622	0.11530	N	AEFI	0.095199	0.19237	N	-0.485748723136745	0.22548	1.204694	-0.672667492973596	0.17645	0.9391982	0.0112691162336638	0.12158	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.32	1.57	0.22490	-0.070000	0.11483	1.685000	0.28035	-0.120000	0.14102	0.000000	0.06391	0.939000	0.28734	0.009000	0.08673	0.1563:0.1389:0.4186:0.2862	1.733	0.02759	907	0.22727	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	41.43	42	chr5	9629897	.	G	A	41.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.427;DP=396;ExcessHet=0;FS=21.084;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=0.466;SOR=4.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,9:61:53:0|1:9629897_G_A:53,0,1781:9629897	9	0	1	0
chr5	9629899	9629899	T	C	exonic	TAS2R1	.	nonsynonymous SNV	TAS2R1:NM_019599:exon1:c.A134G:p.D45G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00697072356392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.95e-07	0.0001	1.385e-06	0	9.163e-07	0	0	.	.	0	0	0	0	0	0	9.163e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.41	0.14544	T	0.972	0.57405	D	0.834	0.59825	P	0.001484	0.38855	N	0.203537	1	0.08975	N	2.48	0.72069	M	5.28	0.01107	T	-5.27	0.84175	D	0.221	0.24758	-1.0652	0.10502	T	0.012	0.04795	T	9	0.84388024	0.83548	D	0.006971	0.18458	T	0.180	0.45073	0.907	0.98068	0.198526703765	0.19489	0.30592706975824924	0.30505	0.181784102494	0.20437	0.220265984535	0.01325	T	0.047635	0.27782	T	-0.151296	0.28110	T	-0.455102	0.27134	T	0.907852292060852	0.56226	D	0.736726	0.35329	T	0.24272408	0.47203	0.31256044	0.57258	0.24272408	0.47203	0.31256044	0.57257	-7.938	0.60647	D	.	.	0.246	0.51600	B	.;.;.	.;.;.	1.549963	0.19867	14.48	0.99374170248909566	0.61585	0.16288	0.19319	N	AEFI	0.110867	0.21969	N	-0.172712082696422	0.34273	1.954338	-0.388174666061177	0.25349	1.393468	0.0347002958415543	0.14166	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.32	2.85	0.32333	1.005000	0.29436	0.160000	0.15395	0.665000	0.62972	0.022000	0.19841	0.000000	0.08366	0.006000	0.07323	0.0:0.0:0.3002:0.6998	10.849	0.45965	907	0.22727	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	41.43	42	chr5	9629899	.	T	C	41.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.105;DP=396;ExcessHet=0;FS=21.084;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=0.387;SOR=4.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,9:61:53:0|1:9629897_G_A:53,0,1781:9629897	9	0	1	0
chr5	11082825	11082825	C	A	exonic	CTNND2	.	nonsynonymous SNV	CTNND2:NM_001288716:exon13:c.G1648T:p.A550S,CTNND2:NM_001364128:exon14:c.G1723T:p.A575S,CTNND2:NM_001288715:exon15:c.G2386T:p.A796S,CTNND2:NM_001288717:exon15:c.G1360T:p.A454S,CTNND2:NM_001332:exon16:c.G2659T:p.A887S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.126375042316	.	.	4.129e-05	0	0	0	0	6.007e-05	0	6.066e-05	3.23e-05	5	154602	rs763000398	5.472e-06	6.156e-06	5.445e-06	5.5e-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	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.48186	D	0.093	0.47097	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.185	0.30054	L	-0.61	0.71779	T	-1.68	0.41618	N	0.724	0.74826	-0.0321	0.81586	T	0.471	0.79631	T	10	0.747446	0.75391	D	0.126375	0.80802	D	0.448	0.74935	0.693	0.83032	0.611543997595	0.60841	0.6620833680248643	0.66145	1.33688621496	0.83761	0.823634624481	0.85585	D	0.180593	0.53198	T	-0.0533568	0.43937	T	-0.158054	0.58527	T	0.575280010700226	0.35437	D	0.936106	0.76057	D	0.2715903	0.50230	0.22520779	0.47458	0.2715903	0.50230	0.22520779	0.47457	-8.146	0.62060	D	0.5099572006883919	0.58384	0.273	0.50672	B	.;.;.	.;.;.	5.058423	0.84292	28.3	0.99860985688730886	0.93911	0.99037	0.90305	D	AEFDGI	0.835452	0.75336	D	0.673845200249461	0.77921	6.768357	0.662348454434292	0.79535	7.102625	0.999992669331789	0.74766	0.752111	0.98806	0	0.588015	0.36545	0	0.389834	0.06288	2	0.564101	0.26826	0	.	.	4.93	4.93	0.64394	5.012000	0.63775	7.618000	0.62188	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:1.0:0.0:0.0	18.489	0.90790	898	0.25240	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1009.43	36	chr5	11082825	.	C	A	1009.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=468;ExcessHet=0;FS=2.377;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-1.007;SOR=0.921	GT:AD:DP:GQ:PL	0/1:75,46:121:99:1021,0,1703	9	0	1	0
chr5	13737270	13737270	G	A	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon66:c.C11437T:p.R3813W	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1512	9	1	0	11	0.00362438	.	.	.	229247	not_specified|not_provided|Primary_ciliary_dyskinesia_3|Primary_ciliary_dyskinesia|DNAH5-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.817	0.0761357794629	0.0017	0.000399361	0.0015	0.0006	0.0002	0	0	0.0024	0.0033	0.0007	0.0013971	216	154602	rs140948493	0.0015	0.0015	0.0015	0.0014	0.0016	0.0014	0.0014	0.0016	0.0016	0.0005	0.0004	0.0034	7.557e-05	0.0004	0.0009	0.0016	0.0018	0.0007	0.0011	0.0011	0.0012	0.0010	0.0017	0.0009	0.0009	0.0014	0.0013	0.0002	0	0.0010	0.0040	0.0002	0	0	0.0017	0.0024	0.0006	0.003	0.68238	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.67	0.99414	H	0.55	0.54728	T	-7.06	0.93879	D	0.971	0.98167	0.611	0.92040	D	0.580	0.84898	D	10	0.31398964	0.48844	T	0.076136	0.72457	D	0.817	0.94123	.	.	0.875734566224	0.87452	0.8775822651991114	0.87725	0.344227870731	0.36350	0.769668221474	0.77375	T	0.780787	0.94211	D	-0.021285	0.48669	T	0.183419	0.82191	D	0.149819801242789	0.17089	T	0.989301	0.96450	D	0.77637196	0.82432	0.66963506	0.80619	0.77637196	0.82433	0.66963506	0.80620	-13.45	0.91131	D	0.6801911131535268	0.75647	0.655	0.71136	P	.	.	4.246224	0.64416	24.7	0.99889381502311902	0.96359	0.96614	0.70026	D	AEFDI	0.795837	0.72314	D	0.929949721782846	0.93148	11.85168	0.778632072357556	0.88271	9.519996	0.944380329058031	0.27613	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.44	4.56	0.55644	4.487000	0.60022	4.419000	0.43309	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8601:0.1399	15.439	0.74892	889	0.27310	.	.	.	.	.	.	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	0.05	573.43	33	chr5	13737270	.	G	A	573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=368;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.64;SOR=0.709	GT:AD:DP:GQ:PL	0/1:32,23:55:99:585,0,753	9	0	1	0
chr5	13900212	13900212	G	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon15:c.C2253A:p.N751K	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1448	72	2	0	76	0.025572	.	.	.	173703	not_provided|Primary_ciliary_dyskinesia|not_specified|Primary_ciliary_dyskinesia_3	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0042	0.00798722	0.0102	0.0008	0.0052	0.0028	0.0038	0.0071	0.0088	0.0385	0.0093401	1444	154602	rs115004914	0.0073	0.0074	0.0061	0.0085	0.0410	0.0072	0.0071	0.0380	0.0376	0.0018	0.0054	0.0136	0.0011	0.0030	0.0410	0.0050	0.0092	0.0391	0.0052	0.0052	0.0046	0.0057	0.0332	0.0049	0.0047	0.0290	0.0274	0.0009	0	0.0077	0.0135	0.0023	0.0012	0.0306	0.0056	0.0057	0.0332	0.981	0.02004	T	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.032430	0.25031	N	0.480603	0.849946	0.28511	N	-0.085	0.04774	N	0.49	0.55775	T	-0.59	0.17624	N	0.158	0.16447	-1.0150	0.25336	T	0.041	0.17657	T	10	0.0028903186	0.00046	T	.	.	.	0.084	0.24469	0.578	0.70347	.	.	0.20929337985335666	0.20845	0.340553000604	0.35994	0.36459928751	0.20054	T	0.045103	0.27019	T	-0.633746	0.00091	T	-0.654541	0.08639	T	0.0114647865171174	0.00172	T	0.562444	0.19755	T	0.05629839	0.11056	0.061138283	0.11758	0.05629839	0.11056	0.061138283	0.11758	-4.293	0.28079	T	0.05614227209307895	0.01287	0.138	0.30184	B	.	.	2.011412	0.25557	16.81	0.72565165752983651	0.10018	0.65932	0.32904	D	AEFI	0.117440	0.23006	N	-0.638735665786539	0.17789	0.9183943	-0.443612577236373	0.23731	1.295656	0.813525907050886	0.24398	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.51	1.29	0.20717	0.655000	0.24618	2.679000	0.34003	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.997000	0.79791	0.3395:0.0:0.4694:0.1911	5.168	0.14421	754	0.51307	Dynein heavy chain, domain-1	.	.	.	.	.	Likely benign	0	0	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	0.046828	0.060606	0.057065	0.026316	0.100000	0.086207	0.021341	0.034091	0.1	4733.14	35	chr5	13900212	.	G	T	4733.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.078;DP=698;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=2.15;SOR=0.713	GT:AD:DP:GQ:PL	0/1:107,102:209:99:2308,0,2638	8	0	2	0
chr5	14397101	14397101	T	C	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.T4370C:p.M1457T	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.803	0.607880101629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.62	0.93917	H	-0.15	0.65192	T	-5.22	0.85103	D	0.933	0.93841	0.311	0.87728	D	0.546	0.83298	D	10	0.91930556	0.91287	D	0.60788	0.96567	D	0.803	0.93582	0.768	0.89530	0.770173575234	0.76806	0.8865844041988105	0.88627	2.08621322631	0.94675	0.935062050819	0.99249	D	0.461553	0.79828	T	0.385551	0.89062	D	0.316041	0.88925	D	0.99721485376358	0.91033	D	0.994516	0.98171	D	0.8800467	0.89670	0.8839668	0.93840	0.8800467	0.89671	0.8839668	0.93840	-12.877	0.88850	D	0.8126676643583495	0.88728	0.993	0.96223	P	.;.;.	.;.;.	4.517657	0.70805	25.6	0.98558679360083823	0.42948	0.96380	0.68855	D	AEFBHCI	0.913403	0.87534	D	0.886268292424851	0.91070	10.701	0.841236870122834	0.92495	11.45868	0.999999999999891	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	7.949000	0.87258	7.838000	0.70402	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	16.178	0.81689	700	0.57880	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	.	.	.	.	.	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	197.37	36	chr5	14397101	.	T	C	197.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.932;DP=587;ExcessHet=0.2348;FS=142.763;InbreedingCoeff=-0.143;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=0.338;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,15:92:93:0|1:14397101_T_C:93,0,1817:14397101	7	0	2	1
chr5	32058056	32058056	C	A	exonic	PDZD2	.	nonsynonymous SNV	PDZD2:NM_178140:exon12:c.C2153A:p.T718N	.	433	1072	17	0	0	17	0.00786673	.	.	.	3210879	PDZD2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.052	0.014107825277	0.0033	0.00239617	0.0038	0.0015	0.0023	0	0.0014	0.0057	0.0056	0.0017	0.0038098	589	154602	rs144128749	0.0045	0.0045	0.0044	0.0045	0.0116	0.0044	0.0043	0.0094	0.0086	0.0008	0.0027	0.0118	0	0.0009	0.0116	0.0050	0.0047	0.0015	0.0030	0.0031	0.0031	0.0030	0.0049	0.0028	0.0027	0.0044	0.0043	0.0007	0	0.0029	0.0081	0	0.0009	0.0272	0.0049	0.0062	0.0006	0.005	0.63226	D	0.015	0.61642	D	0.497	0.37095	P	0.062	0.26930	B	0.136123	0.18457	N	0.457372	0.99797	0.22416	N	0.345	0.11182	N	2.29	0.17113	T	-0.42	0.14193	N	0.134	0.13055	-0.9806	0.34863	T	0.011	0.03996	T	10	0.0044118166	0.00090	T	0.014108	0.34004	T	0.052	0.14661	.	.	0.151262610727	0.14761	0.3313073341527466	0.33043	0.603591821833	0.55329	0.427487999201	0.28865	T	0.035208	0.23629	T	-0.65174	0.00071	T	-0.699561	0.05849	T	0.0190694285831941	0.00615	T	0.812119	0.46368	T	0.11684574	0.27553	0.07916186	0.17797	0.11684574	0.27553	0.07916186	0.17796	-5.05	0.37378	T	.	.	0.105	0.19194	B	.	.	2.452986	0.31592	18.79	0.88667022897774284	0.18158	0.78531	0.38758	D	AEFGBHCI	0.336271	0.43444	N	-0.612418730729325	0.18570	0.9651757	-0.470803913504755	0.22963	1.249855	0.999997873605003	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.638833	0.57524	0	.	.	6.06	2.25	0.27340	2.988000	0.49074	1.925000	0.29735	0.530000	0.24713	0.999000	0.42656	0.999000	0.35428	0.978000	0.57271	0.0:0.486:0.2483:0.2658	5.433	0.15763	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013595	0.020202	0.010870	0.011696	0.000000	0.060345	0.006098	0.011364	0.05	479.43	34	chr5	32058056	.	C	A	479.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.265;DP=395;ExcessHet=0;FS=2.517;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=1.62;SOR=1.182	GT:AD:DP:GQ:PL	0/1:32,22:54:99:491,0,793	9	0	1	0
chr5	32074423	32074423	C	T	exonic	PDZD2	.	nonsynonymous SNV	PDZD2:NM_178140:exon18:c.C3317T:p.S1106F	.	421	1057	43	1	0	45	0.020843	.	.	.	3191459	PDZD2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.078	.	0.0074	0.00678914	0.0096	0.0089	0.0069	0.0002	0.0240	0.0111	0.0166	0.0049	0.008952	1384	154602	rs34748216	0.0085	0.0085	0.0084	0.0086	0.0414	0.0084	0.0083	0.0371	0.0355	0.0093	0.0064	0.0062	5.038e-05	0.0224	0.0414	0.0083	0.0106	0.0045	0.0089	0.0089	0.0086	0.0092	0.0090	0.0085	0.0084	0.0084	0.0082	0.0079	0	0.0065	0.0072	0.0004	0.0216	0.0544	0.0090	0.0132	0.0033	0.012	0.54683	D	0.013	0.63109	D	0.845	0.46707	P	0.311	0.41430	B	0.365314	0.13608	N	0.648510	0.999998	0.08975	N	1.975	0.53506	M	3.12	0.08106	T	-2.5	0.54382	D	0.296	0.33469	-1.0707	0.09260	T	0.016	0.06473	T	10	0.0035271943	0.00063	T	.	.	.	0.078	0.22779	.	.	0.123314135267	0.11883	0.11458039120919956	0.11386	0.343199462027	0.36250	0.265013664961	0.05502	T	0.075126	0.35104	T	-0.573897	0.00210	T	-0.589178	0.13737	T	0.0327796637201436	0.02435	T	0.611339	0.23205	T	0.09126352	0.21379	0.13509504	0.32356	0.09126352	0.21379	0.13509504	0.32355	-6.056	0.46745	T	.	.	0.111	0.21691	B	.	.	2.465194	0.31763	18.84	0.99687572782539791	0.79708	0.10438	0.15945	N	AEFGBI	0.082468	0.16699	N	-0.258033236153152	0.30784	1.719747	-0.353795987390985	0.26392	1.457449	0.999968663606162	0.48965	0.533608	0.22052	0	0.588066	0.40923	0	0.685742	0.62368	0	0.567892	0.33627	0	.	.	5.67	4.81	0.61401	2.071000	0.41125	0.100000	0.14636	0.599000	0.40250	0.011000	0.18532	0.000000	0.08366	0.066000	0.16387	0.0:0.9194:0.0:0.0806	12.568	0.55668	704	0.57414	.	.	.	.	.	.	Likely benign	0	0	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	0.043807	0.040404	0.055707	0.055556	0.100000	0.094828	0.024390	0.003788	0.05	1147.43	34	chr5	32074423	.	C	T	1147.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.35;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.841;SOR=0.693	GT:AD:DP:GQ:PL	0/1:53,53:106:99:1159,0,1232	9	0	1	0
chr5	36269438	36269438	G	A	exonic	RANBP3L	.	nonsynonymous SNV	RANBP3L:NM_001161429:exon4:c.C220T:p.R74W,RANBP3L:NM_001323273:exon4:c.C220T:p.R74W,RANBP3L:NM_001323274:exon4:c.C220T:p.R74W,RANBP3L:NM_001323277:exon4:c.C220T:p.R74W,RANBP3L:NM_001323279:exon4:c.C220T:p.R74W,RANBP3L:NM_145000:exon4:c.C220T:p.R74W	.	434	1085	3	0	0	3	0.00138058	.	.	.	3472298	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.289	0.0637294622383	0.0002	.	0.0002	0	0	0	0	0.0003	0	0.0002	0.0001358	21	154602	rs146572714	9.467e-05	0.0001	8.959e-05	9.977e-05	0.0023	8.158e-05	7.618e-05	0.0013	0.0011	6.067e-05	6.718e-05	0	7.586e-05	1.873e-05	0.0023	7.506e-05	0.0002	0.0002	9.858e-05	9.85e-05	8.995e-05	0.0001	0.0002	6.008e-05	4.881e-05	0.0001	7.895e-05	0	0	6.545e-05	0	0.0002	0	0.0032	0.0002	0	0	0.001	0.78490	D	0.001	0.92824	D	1.0	0.90584	D	0.967	0.71530	D	0.003696	0.34611	N	0.196194	0.995979	0.23150	N	2.74	0.80084	M	-0.69	0.73311	T	-5.25	0.95045	D	0.536	0.57860	-0.3960	0.72153	T	0.509	0.81517	D	10	0.23324361	0.40338	T	0.063729	0.69060	D	0.289	0.60808	.	.	0.434716162284	0.43093	0.36396185831076283	0.36310	0.50988881724	0.49125	0.43246114254	0.29545	T	0.167752	0.51450	T	-0.17896	0.23891	T	-0.188864	0.55697	T	0.72623884677887	0.42016	D	0.963304	0.86380	D	0.3044398	0.53300	0.3089647	0.56913	0.3044398	0.53300	0.3089647	0.56912	-9.08	0.68210	D	.	.	0.229	0.54279	B	.;.;.;.	.;.;.;.	3.864475	0.56067	23.7	0.99889168503194559	0.96359	0.09037	0.14871	N	AEFI	0.155248	0.28041	N	0.138818652263138	0.48283	3.042537	-0.026191991251841	0.38535	2.271774	0.138156256392847	0.17221	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.66	1.13	0.19758	0.920000	0.28325	0.371000	0.17677	0.676000	0.76740	0.395000	0.26129	0.001000	0.17328	0.989000	0.64315	0.0:0.0:0.3576:0.6423	10.375	0.43260	612	0.66786	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.011696	0.000000	0.000000	0.000000	0.000000	0.1	2741.14	40	chr5	36269438	.	G	A	2741.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.35;DP=500;ExcessHet=0.2348;FS=0.494;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.303;SOR=0.708	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1343,0,1180	8	0	2	0
chr5	59039095	59039095	G	T	exonic	PDE4D	.	nonsynonymous SNV	PDE4D:NM_001197222:exon1:c.C13A:p.P5T	Acrodysostosis 2, with or without hormone resistance, Autosomal dominant	1	1515	6	0	0	6	0.00197628	.	.	.	438944	not_provided|PDE4D-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00419329	0.0159	0.0060	0.0066	0	0.0224	0.0232	0.0227	0.0022	0.0023027	356	154602	rs16889108	0.0105	0.0100	0.0104	0.0107	0.0119	0.0104	0.0103	0.0117	0.0116	0.0013	0.0046	0.0033	0	0.0180	0.0004	0.0119	0.0067	0.0024	0.0085	0.0085	0.0084	0.0086	0.0135	0.0081	0.0079	0.0128	0.0125	0.0018	0	0.0042	0.0037	0	0.0189	0	0.0135	0.0043	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.003698	0.000000	0.006522	0.000000	0.000000	0.026316	0.000000	0.000000	0.05	576.43	33	chr5	59039095	.	G	T	576.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.299;DP=386;ExcessHet=0;FS=2.202;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-0.335;SOR=1.008	GT:AD:DP:GQ:PL	0/1:37,26:63:99:588,0,974	9	0	1	0
chr5	60771922	60771922	G	C	exonic	ELOVL7	.	nonsynonymous SNV	ELOVL7:NM_001104558:exon3:c.C236G:p.S79C,ELOVL7:NM_024930:exon4:c.C236G:p.S79C,ELOVL7:NM_001297617:exon6:c.C197G:p.S66C	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.681	0.0613547569781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs368309905	6.851e-07	6.84e-07	1.363e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-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	2.45	0.71042	M	0.71	0.51228	T	-4.82	0.81107	D	0.919	0.92200	-0.4118	0.71653	T	0.341	0.70713	T	10	0.91465944	0.90828	D	0.061355	0.68304	D	0.681	0.88300	0.774	0.90002	0.610589977033	0.60745	0.7475018586076664	0.74696	0.676802285866	0.59796	0.628733038902	0.56965	T	0.205654	0.56477	T	0.304053	0.83289	D	0.198975	0.83072	D	0.998110771179199	0.93268	D	0.838216	0.51127	T	0.84997267	0.87333	0.69183075	0.81863	0.84997267	0.87335	0.69183075	0.81864	-9.27	0.69419	D	.	.	0.548	0.66743	A	.;.;.;.;.	.;.;.;.;.	5.119921	0.85627	28.7	0.99445181225394774	0.64971	0.99366	0.95088	D	AEFBI	0.941110	0.94395	D	0.93457361501928	0.93347	11.97975	0.920281621337817	0.96398	14.64769	0.999999989364752	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.73	5.73	0.89730	9.561000	0.97256	11.884000	0.98910	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	20.279	0.98503	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1244.14	36	chr5	60771922	.	G	C	1244.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.544;DP=463;ExcessHet=0.2348;FS=1.23;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=6.73;ReadPosRankSum=1.11;SOR=0.797	GT:AD:DP:GQ:PL	0/1:64,33:97:99:700,0,1668	8	0	2	0
chr5	65662117	65662117	C	A	exonic	TRAPPC13	.	nonsynonymous SNV	TRAPPC13:NM_001365342:exon9:c.C476A:p.P159H,TRAPPC13:NM_001365343:exon9:c.C476A:p.P159H,TRAPPC13:NM_001093756:exon10:c.C947A:p.P316H,TRAPPC13:NM_001243737:exon10:c.C947A:p.P316H,TRAPPC13:NM_001093755:exon11:c.C965A:p.P322H,TRAPPC13:NM_024941:exon11:c.C965A:p.P322H	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.0150671539696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.229	0.25210	T	0.999	0.77913	D	0.947	0.73562	D	0.000001	0.84330	D	0.098476	1	0.81001	D	2.885	0.83555	M	.	.	.	-4.69	0.79743	D	0.808	0.80866	-0.2052	0.77536	T	0.449	0.78425	T	9	0.7833786	0.78041	D	0.015067	0.35586	T	0.513	0.79156	0.545	0.65873	0.262679179196	0.25893	0.6949594956694641	0.69436	1.27824070205	0.82465	0.834807634354	0.87300	D	0.403088	0.75993	T	0.43029	0.91545	D	0.380305	0.91440	D	0.987336924581582	0.77850	D	0.940306	0.77472	D	0.3045037	0.53306	0.41158703	0.65386	0.3045037	0.53306	0.41158703	0.65386	-9.757	0.74763	D	.	.	0.302	0.61750	B	.;.;.;.	.;.;.;.	5.111087	0.85445	28.6	0.99602940714994226	0.74338	0.99072	0.90815	D	AEFGBI	0.868108	0.78811	D	0.821911345905532	0.87455	9.224197	0.807347642672689	0.90300	10.34478	0.999999999346555	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	7.388000	0.79070	7.719000	0.67224	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.610	0.95596	896	0.25515	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1909.14	33	chr5	65662117	.	C	A	1909.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.427;DP=441;ExcessHet=0.2348;FS=3.542;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.063;SOR=0.979	GT:AD:DP:GQ:PL	0/1:40,37:77:99:921,0,942	8	0	2	0
chr5	65708528	65708528	G	A	exonic	SGTB	.	nonsynonymous SNV	SGTB:NM_019072:exon4:c.C235T:p.P79S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0110929457332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.48186	D	0.163	0.31125	T	0.004	0.12183	B	0.017	0.18140	B	0.022554	0.01575	N	2.715780	0.999999	0.58761	D	1.245	0.31408	L	-0.08	0.63911	T	-3.72	0.74427	D	0.399	0.43995	-1.0812	0.07118	T	0.194	0.54768	T	10	0.22070292	0.38774	T	0.011093	0.28353	T	0.144	0.38394	0.21	0.12781	0.515558578274	0.51199	0.3055252585146788	0.30465	0.753329412247	0.63888	0.504139602184	0.39404	T	0.31376	0.68549	T	-0.0433147	0.45455	T	-0.299995	0.44726	T	0.782053351402283	0.45179	D	0.832317	0.50011	T	0.108163334	0.25575	0.16338198	0.37904	0.108163334	0.25575	0.16338198	0.37903	-2.775	0.07955	T	.	.	0.080	0.09288	B	.;.	.;.	2.427035	0.31214	18.67	0.99485598754376936	0.67124	0.91594	0.53855	D	AEFBCI	0.406952	0.47923	N	-0.249062288760588	0.31140	1.743214	-0.0853263700545862	0.35995	2.08929	0.0630633438129852	0.15283	0.706548	0.73137	0	0.708844	0.79440	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.17	3.31	0.37025	5.011000	0.63768	4.462000	0.43463	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1391:0.7165:0.1445	11.17	0.47793	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	849.43	44	chr5	65708528	.	G	A	849.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.391;DP=402;ExcessHet=0;FS=3.251;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.441;SOR=0.361	GT:AD:DP:GQ:PL	0/1:33,41:74:99:861,0,841	9	0	1	0
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T,ANKRD31:NM_001372053:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	338.25	123	chr5	75146001	.	A	G	338.25	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.389;DP=800;ExcessHet=2.8389;FS=86.742;InbreedingCoeff=-0.316;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=1.96;SOR=9.297	GT:AD:DP:GQ:PL	0/1:46,15:61:99:122,0,914	5	0	5	0
chr5	75511347	75511347	G	T	exonic	CERT1	.	nonsynonymous SNV	CERT1:NM_001130105:exon2:c.C245A:p.S82Y	.	.	.	.	.	.	.	.	.	.	.	2407272	Intellectual_disability,_autosomal_dominant_34	MONDO:MONDO:0014599,MedGen:C4225156,OMIM:616351	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.0346819570572	.	.	.	.	.	.	.	.	.	.	.	.	.	rs993938595	2.875e-06	2.736e-06	5.673e-06	0	8.402e-05	6.7e-07	4.5e-07	2.227e-05	1.217e-05	0	0	0	8.402e-05	0	0	0	1.73e-05	0	6.575e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	0.009	0.15093	B	0.021	0.19346	B	.	.	.	.	1	0.27710	N	.	.	.	.	.	.	.	.	.	.	.	-1.0138	0.25720	T	0.058	0.24391	T	8	0.06787723	0.09521	T	0.034682	0.55837	D	.	.	0.431	0.48007	.	.	0.5350527773518703	0.53430	.	.	0.795366168022	0.81258	T	.	.	.	-0.339654	0.05412	T	-0.52016	0.20278	T	0.127537848380643	0.15153	T	0.394561	0.09893	T	.	.	.	.	.	.	.	.	-6.925	0.53484	T	.	.	0.17	0.37369	B	.	.	1.588151	0.20318	14.69	0.95107310514469812	0.26189	0.01525	0.05026	N	AEFDBHCIJ	0.065793	0.12852	N	-0.833093387859778	0.12471	0.6080358	-0.829869945204075	0.13773	0.7162765	0.999999086449972	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.49	1.66	0.23081	0.275000	0.18461	1.519000	0.27078	-0.232000	0.07691	0.000000	0.06391	0.975000	0.29991	0.769000	0.36481	0.104:0.3541:0.3781:0.1638	2.934	0.05455	927	0.17636	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1346.43	33	chr5	75511347	.	G	T	1346.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.481;DP=389;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.4;ReadPosRankSum=0.719;SOR=0.706	GT:AD:DP:GQ:PL	0/1:17,49:66:99:1358,0,305	9	0	1	0
chr5	79044510	79044510	T	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.A788G:p.H263R	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	0.0499483824762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.228	0.25286	T	0.648	0.40583	P	0.172	0.35394	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.175	0.60977	M	-1.44	0.80815	T	-1.42	0.34992	N	0.804	0.79986	-0.1303	0.79394	T	0.367	0.72712	T	10	0.64481616	0.69264	D	0.049948	0.64031	D	0.620	0.85249	0.601	0.73226	0.827341243144	0.82571	0.8269855015519543	0.82656	0.611311684803	0.55774	0.558233141899	0.47018	T	0.028244	0.20504	T	0.334612	0.85475	D	0.24287	0.85283	D	0.968468606472015	0.68253	D	0.921908	0.71628	D	0.86606336	0.88552	0.6559207	0.79854	0.86606336	0.88554	0.6559207	0.79855	-8.651	0.65424	D	0.4151006917709649	0.50477	0.852	0.79850	P	.;.	.;.	3.747857	0.53700	23.4	0.99775390252736462	0.86260	0.99126	0.91608	D	AEFBI	0.956026	0.97429	D	0.228138784264105	0.52565	3.430038	0.367314525288217	0.59556	4.134629	0.999998532021457	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	7.857000	0.85305	7.860000	0.71395	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.569	0.76062	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	262.48	102	chr5	79044510	.	T	C	262.48	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.483;DP=737;ExcessHet=0.7463;FS=139.927;InbreedingCoeff=-0.1714;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=0.782;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,16:96:99:0|1:79044510_T_C:145,0,2790:79044510	7	0	3	0
chr5	79044511	79044511	G	A	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.C787T:p.H263Y	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0145784045067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.12673	T	0.614	0.07592	T	0.029	0.19866	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	-1.46	0.80983	T	0.46	0.03297	N	0.795	0.79118	-0.6303	0.63558	T	0.309	0.67931	T	10	0.5324558	0.63261	D	0.014578	0.34790	T	0.393	0.70844	0.467	0.53891	0.782547463411	0.78053	0.768997685997995	0.76848	0.195931964383	0.21951	0.557169079781	0.46868	T	0.017325	0.14153	T	0.221509	0.75918	D	0.0804058	0.75605	D	0.845702707767487	0.49799	D	0.930507	0.74278	D	0.7260823	0.79502	0.4871424	0.70320	0.7260823	0.79504	0.4871424	0.70320	-2.736	0.07610	T	0.3277913666749117	0.42589	0.213	0.44188	B	.;.	.;.	3.944933	0.57750	23.9	0.99348841113542719	0.60493	0.99470	0.96426	D	AEFBI	0.952969	0.96887	D	0.0628041216277017	0.44734	2.742053	0.2805814258811	0.54406	3.605736	0.999999999489839	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	9.792000	0.98216	11.788000	0.96293	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.355	0.94400	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	262.48	37	chr5	79044511	.	G	A	262.48	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.903;DP=651;ExcessHet=0.7463;FS=113.664;InbreedingCoeff=-0.1714;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=0.757;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,16:96:99:0|1:79044510_T_C:145,0,2790:79044510	7	0	3	0
chr5	79730516	79730516	A	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.A1751C:p.E584A	.	424	1069	29	0	0	29	0.0133826	.	.	.	735218	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.088	.	0.0021	0.00299521	0.0038	0.0008	0.0010	0	0.0009	0.0029	0.0067	0.0145	0.0034476	533	154602	rs200387533	0.0027	0.0027	0.0022	0.0032	0.0155	0.0026	0.0026	0.0148	0.0145	0.0004	0.0006	0.0171	0	0.0010	0.0081	0.0016	0.0037	0.0155	0.0021	0.0021	0.0018	0.0024	0.0139	0.0019	0.0019	0.0112	0.0102	0.0003	0.0121	0.0005	0.0193	0	0.0018	0.0068	0.0020	0.0014	0.0139	0.47	0.08483	T	0.105	0.38016	T	0.953	0.54283	P	0.556	0.49411	P	0.046976	0.23388	N	0.365645	0.997561	0.22606	N	2.6	0.76081	M	0.64	0.52867	T	-2.95	0.61580	D	0.349	0.39052	-0.9154	0.46168	T	0.132	0.44307	T	10	0.0025447905	0.00039	T	.	.	.	0.088	0.25558	.	.	0.544738774389	0.54127	0.2969565352826435	0.29608	0.290506961512	0.31456	0.32499268651	0.14178	T	0.107114	0.41905	T	-0.438145	0.01326	T	-0.389818	0.34572	T	0.0364199132738606	0.03054	T	0.738226	0.35599	T	0.19137003	0.40761	0.20814788	0.45104	0.19137003	0.40761	0.20814788	0.45103	-5.679	0.43506	T	.	.	0.213	0.44161	B	.	.	3.764044	0.54020	23.4	0.99478722548153919	0.66741	0.93621	0.58720	D	AEFBI	0.130246	0.24872	N	0.395398827813312	0.61171	4.314794	0.453194173799013	0.64922	4.758969	0.999988312945074	0.51787	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.69	5.69	0.88346	3.545000	0.53401	8.102000	0.76560	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8435:0.1564:0.0:0.0	10.939	0.46474	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	0.007049	0.000000	0.005435	0.008772	0.000000	0.008621	0.006098	0.018939	0.05	2160.43	122	chr5	79730516	.	A	C	2160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.23;DP=997;ExcessHet=0;FS=1.102;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.35;SOR=0.797	GT:AD:DP:GQ:PL	0/1:114,87:201:99:2172,0,2751	9	0	1	0
chr5	79734800	79734800	C	T	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.C6035T:p.S2012F	.	430	1062	30	0	0	30	0.0139276	.	.	.	735224	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.226	.	0.0022	0.00299521	0.0038	0.0008	0.0011	0	0.0009	0.0028	0.0067	0.0144	0.0034346	531	154602	rs201032060	0.0027	0.0027	0.0022	0.0031	0.0154	0.0026	0.0026	0.0148	0.0145	0.0004	0.0006	0.0171	0	0.0010	0.0080	0.0016	0.0037	0.0154	0.0021	0.0021	0.0019	0.0024	0.0139	0.0019	0.0018	0.0112	0.0102	0.0003	0.0121	0.0005	0.0193	0	0.0018	0.0068	0.0019	0.0014	0.0139	0.001	0.78490	D	0.016	0.60972	D	0.994	0.66517	D	0.862	0.61339	P	0.039534	0.24160	N	0.210202	0.999995	0.08975	N	1.01	0.25309	L	0.7	0.51474	T	-2.87	0.60348	D	0.329	0.36989	-0.9838	0.34116	T	0.134	0.44817	T	10	0.004062146	0.00079	T	.	.	.	0.226	0.52472	.	.	0.510054698054	0.50647	0.21170296660857402	0.21086	0.242559149835	0.26761	0.298259317875	0.10143	T	0.027042	0.19889	T	-0.188899	0.22422	T	-0.0317921	0.68248	D	0.0461429816485544	0.04810	T	0.517048	0.16713	T	0.22967087	0.45709	0.24030852	0.49401	0.22967087	0.45709	0.24030852	0.49400	-5.613	0.42911	T	.	.	0.169	0.37235	B	.	.	1.986486	0.25238	16.69	0.84427426053933818	0.15285	0.13837	0.18079	N	AEFBI	0.090196	0.18279	N	-0.00724785906571376	0.41528	2.485462	-0.0779092449499073	0.36306	2.111129	0.648451535963223	0.22135	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.65	4.77	0.60425	1.641000	0.36812	2.104000	0.30620	0.599000	0.40250	0.018000	0.19461	0.027000	0.21108	0.127000	0.19450	0.0:0.9111:0.0:0.0889	11.002	0.46824	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	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	0.006042	0.000000	0.002717	0.008772	0.000000	0.008621	0.006098	0.018939	0.05	851.43	82	chr5	79734800	.	C	T	851.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.494;DP=583;ExcessHet=0;FS=0.874;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=0.376;SOR=0.527	GT:AD:DP:GQ:PL	0/1:42,34:76:99:863,0,1049	9	0	1	0
chr5	90776525	90776525	A	C	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon61:c.A12476C:p.H4159P	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1510	12	0	0	12	0.00395778	.	.	.	55425	Usher_syndrome_type_2C|ADGRV1-related_disorder|not_provided|not_specified	MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.154	0.0797468953248	.	0.000199681	0.0007	0	0.0003	0	0	0.0002	0.0011	0.0046	0.0006339	98	154602	rs200805176	0.0004	0.0004	0.0003	0.0006	0.0054	0.0004	0.0004	0.0050	0.0048	2.991e-05	0.0004	0	2.52e-05	0	0.0014	0.0001	0.0002	0.0054	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0001	0.0019	0.0016	2.406e-05	0	0.0001	0	0	0	0	0.0002	0	0.0031	0.206	0.19927	T	0.026	0.55759	D	0.75	0.43260	P	0.129	0.32841	B	0.003992	0.34245	N	0.345671	0.999978	0.18612	N	.	.	.	1.7	0.26885	T	-3.14	0.64019	D	0.748	0.74735	-1.0956	0.04667	T	0.051	0.21728	T	10	0.0070364773	0.00160	T	0.079747	0.73305	D	0.154	0.40340	.	.	0.531245695338	0.52774	0.8298226513851884	0.82940	0.268375754583	0.29358	0.393307089806	0.24135	T	0.185223	0.53812	T	-0.422538	0.01648	T	-0.378632	0.35882	T	0.0607050603765	0.07279	T	0.750125	0.37153	T	0.27674827	0.50735	0.30319402	0.56351	0.34527615	0.56697	0.31515864	0.57503	-7.66	0.58729	D	.	.	0.262	0.51738	B	.;.;.	.;.;.	1.798782	0.22867	15.79	0.31134737426357267	0.01739	0.86384	0.45653	D	AEFBI	0.735667	0.68141	D	-0.117023731123837	0.36651	2.121414	-0.136588157486423	0.33928	1.94607	0.155259806287711	0.17506	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.03	5.03	0.67015	4.189000	0.58156	4.412000	0.43285	-0.055000	0.16736	0.925000	0.32113	0.950000	0.28999	0.022000	0.11911	1.0:0.0:0.0:0.0	14.712	0.68856	654	0.62520	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.006098	0.007576	0.1	4076.14	34	chr5	90776525	.	A	C	4076.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.485;DP=625;ExcessHet=0.2348;FS=4.215;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=2.29;SOR=0.718	GT:AD:DP:GQ:PL	0/1:78,80:158:99:1780,0,1887	8	0	2	0
chr5	138164728	138164728	T	C	exonic	BRD8	.	nonsynonymous SNV	BRD8:NM_001300962:exon11:c.A1594G:p.N532D,BRD8:NM_001164326:exon12:c.A1726G:p.N576D,BRD8:NM_001300961:exon12:c.A1669G:p.N557D,BRD8:NM_139199:exon12:c.A1717G:p.N573D,BRD8:NM_001300966:exon13:c.A1399G:p.N467D,BRD8:NM_006696:exon13:c.A1936G:p.N646D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00455562876316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.431	0.31936	T	0.004	0.12183	B	0.007	0.12992	B	0.307776	0.03995	N	1.409790	1	0.08975	N	0	0.06538	N	0.93	0.44065	T	-0.78	0.25986	N	0.044	0.10626	-1.0516	0.13954	T	0.041	0.17573	T	10	0.048936993	0.04413	T	0.004556	0.11220	T	0.018	0.03083	0.145	0.04843	0.154104182512	0.14974	0.0670860488321433	0.06646	0.202752203935	0.22694	0.325494110584	0.14253	T	0.007355	0.13159	T	-0.372747	0.03458	T	-0.773201	0.02664	T	0.0680245513299176	0.08371	T	0.863414	0.55914	D	0.06825728	0.14856	0.06806362	0.14166	0.06825728	0.14856	0.06806362	0.14166	-1.37	0.01518	T	.	.	0.077	0.12560	B	.;.;.;.;.;.	.;.;.;.;.;.	0.391899	0.07635	4.300	0.81681916543161048	0.13807	0.05727	0.11652	N	AEFBI	0.044260	0.07099	N	-1.50329534246021	0.01828	0.0801478	-1.50294549398625	0.02321	0.106584	0.904032688332301	0.26168	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	-7.67	0.01133	-1.700000	0.02005	-2.519000	0.03656	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.969000	0.54022	0.1937:0.4546:0.099:0.2527	4.630	0.11881	172	0.93355	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1365.43	35	chr5	138164728	.	T	C	1365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.586;DP=407;ExcessHet=0;FS=0.868;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-0.772;SOR=0.551	GT:AD:DP:GQ:PL	0/1:38,52:90:99:1377,0,966	9	0	1	0
chr5	138179811	138179811	C	T	exonic	KIF20A	.	nonsynonymous SNV	KIF20A:NM_005733:exon2:c.C131T:p.S44F	.	433	1086	3	0	0	3	0.00137931	.	.	.	698797	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.265	0.121507769	0.0035	0.00259585	0.0029	0.0007	0.0032	0	0.0002	0.0043	0.0033	0.0008	0.0029301	453	154602	rs150704301	0.0038	0.0038	0.0038	0.0037	0.0043	0.0037	0.0037	0.0042	0.0042	0.0006	0.0034	0.0068	5.038e-05	0.0002	0.0036	0.0043	0.0038	0.0011	0.0029	0.0029	0.0030	0.0027	0.0045	0.0026	0.0025	0.0041	0.0039	0.0007	0.0044	0.0036	0.0055	0	9.443e-05	0.0034	0.0045	0.0033	0.0019	0.001	0.78490	D	0.01	0.79402	D	0.999	0.77913	D	0.996	0.84481	D	0.001016	0.40652	N	0.000000	0.999997	0.58761	D	2.05	0.56469	M	0.55	0.71779	T	-3.5	0.70553	D	0.426	0.47208	-0.2578	0.76147	T	0.325	0.69350	T	10	0.0081786215	0.00185	T	0.121508	0.80228	D	0.265	0.57870	.	.	0.847319734358	0.84586	0.6653082964175507	0.66467	2.41629501903	0.97238	0.419259250164	0.27735	T	0.20892	0.66710	T	-0.280932	0.10569	T	-0.175087	0.56975	T	0.0284616953136303	0.01756	T	0.854315	0.54093	D	0.46925637	0.65244	0.43685216	0.67124	0.46925637	0.65245	0.43685216	0.67124	-5.586	0.46546	T	.	.	0.237	0.49206	B	.;.;.;.	.;.;.;.	4.808042	0.78192	26.8	0.99807671343019477	0.89174	0.91326	0.53308	D	AEFDBHCI	0.744066	0.68717	D	0.507703396928415	0.67544	5.095836	0.508662832687037	0.68573	5.238545	0.999999999340629	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.685571	0.62057	0	0.621717	0.48901	0	.	.	5.43	4.56	0.55644	5.812000	0.68868	5.957000	0.51754	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.928:0.0:0.072	14.265	0.65659	172	0.93355	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.001359	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	998.43	33	chr5	138179811	.	C	T	998.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.124;DP=412;ExcessHet=0;FS=2.839;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-2.06;SOR=1.032	GT:AD:DP:GQ:PL	0/1:54,39:93:99:1010,0,1415	9	0	1	0
chr5	138386226	138386226	G	A	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon7:c.G985A:p.A329T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0050907779686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.448	0.13030	T	0.001	0.07471	B	0.001	0.04355	B	0.000815	0.41658	N	0.203233	1	0.81001	D	0.55	0.14455	N	0.11	0.61208	T	-0.27	0.11366	N	0.175	0.18784	-1.0628	0.11069	T	0.090	0.34463	T	10	0.06675702	0.09204	T	0.005091	0.12908	T	0.091	0.26358	0.132	0.03662	0.147330786459	0.14319	0.1916634261127402	0.19084	0.550695722903	0.51928	0.434996545315	0.29892	T	0.010045	0.09105	T	-0.219422	0.18073	T	-0.552961	0.17042	T	0.100532970980296	0.12416	T	0.712529	0.32403	T	0.026300933	0.01671	0.050727747	0.08021	0.026300933	0.01671	0.050727747	0.08020	-3.985	0.23578	T	.	.	0.065	0.01884	B	.	.	2.111299	0.26865	17.27	0.98544586678743984	0.42770	0.79100	0.39133	D	AEFBI	0.192396	0.31955	N	-0.380122664428079	0.26178	1.426746	-0.197696092152855	0.31621	1.79126	0.999871070192208	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.35	3.57	0.40014	0.730000	0.25711	2.928000	0.35601	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1636:0.1348:0.5444:0.1572	2.629	0.04638	367	0.84523	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	592.14	33	chr5	138386226	.	G	A	592.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.333;DP=782;ExcessHet=0.2348;FS=201.033;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.99;ReadPosRankSum=1.56;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,27:145:99:0|1:138386225_T_C:287,0,4001:138386225	8	0	2	0
chr5	138391480	138391480	G	T	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon8:c.G1848T:p.E616D	.	423	1092	7	0	0	7	0.00319489	.	.	.	721231	KDM3B-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.076	0.00658677664402	0.0035	0.00159744	0.0036	0.0008	0.0014	0	0.0017	0.0054	0.0078	0.0018	0.0035575	550	154602	rs34608821	0.0032	0.0032	0.0030	0.0034	0.0087	0.0031	0.0031	0.0068	0.0061	0.0007	0.0017	0.0218	7.557e-05	0.0008	0.0087	0.0031	0.0039	0.0024	0.0030	0.0030	0.0032	0.0028	0.0039	0.0028	0.0027	0.0035	0.0034	0.0009	0	0.0034	0.0210	0	0.0008	0.0136	0.0039	0.0033	0.0019	0.408	0.10212	T	0.54	0.09760	T	0.0	0.02946	B	0.001	0.04355	B	0.023288	0.26470	N	0.405962	0.87772	0.81001	D	0	0.06538	N	-0.05	0.63403	T	-0.99	0.26200	N	0.047	0.01911	-1.1128	0.02840	T	0.059	0.24797	T	10	0.0025058687	0.00038	T	0.006587	0.17386	T	0.076	0.22200	0.063	0.00257	0.189391138174	0.18552	0.08823589275261579	0.08756	0.515532960109	0.49461	0.400202512741	0.25096	T	0.011049	0.09905	T	-0.538587	0.00342	T	-0.546016	0.17710	T	0.0140821131484894	0.00274	T	0.782222	0.41780	T	0.042526472	0.06467	0.032971773	0.02118	0.042526472	0.06467	0.032971773	0.02117	-4.58	0.31920	T	.	.	0.067	0.02428	B	.	.	1.270536	0.16691	12.70	0.80954532508335075	0.13449	0.79868	0.39664	D	AEFGBI	0.077041	0.15514	N	-0.792638441992666	0.13500	0.6655352	-0.628984887625744	0.18749	1.002999	0.858834449411682	0.25186	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.19	-0.02	0.13283	0.526000	0.22680	2.679000	0.34003	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.3222:0.1072:0.43:0.1405	1.912	0.03090	388	0.83355	.	.	.	.	.	.	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	0.006042	0.000000	0.004076	0.002924	0.000000	0.000000	0.018293	0.003788	0.05	2185.43	35	chr5	138391480	.	G	T	2185.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.893;DP=483;ExcessHet=0;FS=0.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-2.144;SOR=0.786	GT:AD:DP:GQ:PL	0/1:72,88:160:99:2197,0,1779	9	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	.	.	.	.	.	.	.	.	0.1667	828.45	73	chr5	139887481	.	C	T	828.45	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-3.427;DP=978;ExcessHet=0.7463;FS=254.507;InbreedingCoeff=-0.2159;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.29;ReadPosRankSum=1.58;SOR=9.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,40:133:99:0|1:139887481_C_T:451,0,2728:139887481	6	0	3	1
chr5	140557163	140557163	C	A	exonic	SRA1	.	nonsynonymous SNV	SRA1:NM_001253764:exon1:c.G290T:p.R97M,SRA1:NM_001035235:exon2:c.G135T:p.Q45H	.	433	1086	2	1	0	4	0.00183824	.	.	.	2384396	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.147	0.0656500090262	.	.	0.0001	0	0	0	0	0	0.0012	0.0008	8.41e-05	13	154602	rs751585477	5.564e-05	5.814e-05	3.008e-05	8.146e-05	0.0010	4.562e-05	4.173e-05	0.0007	0.0006	0	0	0	0	0	0.0010	9.018e-07	4.998e-05	0.0008	3.34e-05	3.321e-05	1.306e-05	5.473e-05	0.0011	1.277e-05	8.1e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0011	0.022	0.48642	D	0.123	0.35582	T	0.989	0.62824	D	0.788	0.57636	P	0.162101	0.17632	U	0.520293	0.905606	0.81001	D	.	.	.	0.8	0.48769	T	-2.33	0.51646	N	0.52	0.55019	-0.7843	0.56059	T	0.224	0.58805	T	9	0.24160486	0.41341	T	0.06565	0.69643	D	0.147	0.38986	0.278	0.23164	0.703487672049	0.70091	0.32698463397678307	0.32611	0.149293114294	0.16836	.	.	.	0.13389	0.46482	T	-0.410688	0.01966	T	-0.421893	0.30857	T	0.652349829673767	0.38563	D	0.708429	0.31914	T	0.20490906	0.42616	0.12997276	0.31240	0.20490906	0.42616	0.12997276	0.31239	-4.976	0.36579	T	.	.	0.286	0.51832	B	.	.	3.524067	0.49411	22.8	0.99729706904872373	0.82690	0.87436	0.46975	D	AEFDBHCI	0.436051	0.49644	N	0.48008543417109	0.65929	4.884636	0.486766823633906	0.67112	5.040648	0.999999999593883	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	5.53	5.53	0.82530	0.402000	0.20690	.	.	0.599000	0.40250	0.998000	0.41325	0.999000	0.35428	0.962000	0.52141	0.0:1.0:0.0:0.0	16.389	0.83361	213	0.91726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	465.43	39	chr5	140557163	.	C	A	465.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.753;DP=375;ExcessHet=0;FS=1.273;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.057;SOR=1.075	GT:AD:DP:GQ:PL	0/1:26,19:45:99:477,0,728	9	0	1	0
chr5	140567437	140567437	G	A	exonic	SLC35A4	.	nonsynonymous SNV	SLC35A4:NM_080670:exon3:c.G268A:p.A90T	.	403	1117	2	0	0	2	0.000894454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.236988062193	.	0.000399361	0.0002	0	8.654e-05	0	0	1.522e-05	0	0.0016	0.0002005	31	154602	rs200911252	0.0001	0.0001	6.807e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0	6.708e-05	0	5.038e-05	0	0.0005	6.295e-06	8.279e-05	0.0019	0.0001	0.0001	7.708e-05	0.0001	0.0021	6.506e-05	5.318e-05	0.0011	0.0009	0	0	0.0003	0	0	0	0	2.941e-05	0	0.0021	0.016	0.51853	D	0.016	0.60972	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.23	0.89537	M	-0.49	0.70365	T	-1.93	0.44852	N	0.882	0.88027	-0.0063	0.82125	T	0.525	0.82292	D	9	0.50418514	0.61722	D	0.236988	0.88524	D	0.574	0.82742	0.781	0.90541	0.388334884743	0.38444	0.40592772250528275	0.40508	0.51955048213	0.49782	0.690156757832	0.65729	T	0.383397	0.74526	T	-0.0743692	0.40628	T	0.113613	0.77811	D	0.275490109640961	0.23981	T	0.761424	0.38629	T	0.20405397	0.42503	0.22869042	0.47918	0.20405397	0.42502	0.22869042	0.47917	-6.215	0.48044	T	.	.	0.258	0.50138	B	.;.;.	.;.;.	3.965692	0.58200	23.9	0.99917029430400872	0.98449	0.98985	0.89557	D	AEFDBHCI	0.945871	0.95467	D	0.692336977443233	0.79129	7.013196	0.639136345609838	0.77805	6.750482	0.999999999999994	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.03	5.03	0.67015	9.328000	0.96407	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.378000	0.26290	0.0:0.0:1.0:0.0	18.136	0.89550	218	0.91525	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1398.43	34	chr5	140567437	.	G	A	1398.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=485;ExcessHet=0;FS=1.966;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=0.257;SOR=0.838	GT:AD:DP:GQ:PL	0/1:103,65:168:99:1410,0,2350	9	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3708.82	169	chr5	141303079	.	C	G	3708.82	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-4.49;DP=1503;ExcessHet=2.8389;FS=221.973;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=4.1;ReadPosRankSum=2.36;SOR=10.911	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:129,33:173:99:.:.:883,0,4167:.	4	0	4	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	.	.	.	.	.	.	.	.	0.4444	5820.05	170	chr5	141303081	.	A	G	5820.05	.	AC=8;AF=0.444;AN=18;BaseQRankSum=-3.609;DP=2013;ExcessHet=10.3881;FS=210.687;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.79;ReadPosRankSum=1.97;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:129,55:184:99:.:.:1042,0,4155:.	1	0	8	1
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	.	.	.	.	.	.	.	.	0.35	1816.95	39	chr5	141400463	.	A	G	1816.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-6.363;DP=2409;ExcessHet=7.0302;FS=249.381;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=59.97;MQRankSum=0;QD=0.97;ReadPosRankSum=0.964;SOR=12.843	GT:AD:DP:GQ:PL	0/1:185,62:247:53:53,0,3315	3	0	7	0
chr5	141658365	141658365	C	T	exonic	ARAP3	.	nonsynonymous SNV	ARAP3:NM_022481:exon25:c.G3526A:p.E1176K	.	.	.	.	.	.	.	.	1.0000	0.982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.308354552984	.	.	2.505e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs367564510	1.095e-05	1.094e-05	2.725e-06	1.927e-05	0.0002	6.49e-06	5.25e-06	8.891e-05	7.058e-05	0	0	0	0	0	0	1.799e-06	1.659e-05	0.0002	6.575e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.01	0.67890	D	0.996	0.68779	D	0.895	0.63489	P	0.000000	0.84330	D	0.000000	0.999855	0.81001	D	2.8	0.81625	M	-1.42	0.80645	T	-3.71	0.71042	D	0.813	0.81063	0.339	0.88163	D	0.676	0.88785	D	9	0.85053706	0.84230	D	0.308355	0.91106	D	0.794	0.93227	0.701	0.83777	0.834081589375	0.83250	0.8838637848592048	0.88354	1.07343801267	0.76901	0.706293821335	0.68056	T	0.14359	0.56649	T	0.196059	0.73525	D	0.303528	0.88360	D	0.97330766916275	0.70042	D	0.968903	0.91204	D	0.6628122	0.76049	0.5779447	0.75543	0.6628122	0.76050	0.5779447	0.75544	-10.744	0.78449	D	.	.	0.739	0.74574	P	.;.;.;.	.;.;.;.	5.949094	0.94155	33	0.99910378098378783	0.98022	0.15155	0.18771	N	ALL	0.919449	0.88999	D	0.787653025420602	0.85328	8.543037	0.773403321150271	0.87891	9.381363	1.0	0.98316	0.675202	0.55065	0	0.48864	0.07623	0	0.702456	0.68683	0	0.756233	0.99697	0	.	.	5.88	5.88	0.94564	7.102000	0.76653	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:1.0:0.0:0.0	17.994	0.89098	760	0.50470	Ras-associating (RA) domain|Ras-associating (RA) domain;Ras-associating (RA) domain|Ras-associating (RA) domain;Ras-associating (RA) domain|Ras-associating (RA) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1448.43	33	chr5	141658365	.	C	T	1448.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.063;DP=424;ExcessHet=0;FS=11;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.633;SOR=0.206	GT:AD:DP:GQ:PL	0/1:59,59:118:99:1460,0,1608	9	0	1	0
chr5	147828053	147828053	G	A	exonic	SPINK1	.	nonsynonymous SNV	SPINK1:NM_001379610:exon3:c.C163T:p.P55S,SPINK1:NM_001354966:exon4:c.C163T:p.P55S,SPINK1:NM_003122:exon4:c.C163T:p.P55S	Pancreatitis, hereditary, Autosomal dominant;Tropical calcific pancreatitis, Autosomal recessive, Autosomal dominant	1	1482	37	2	0	41	0.0136439	.	.	YES	45439	not_provided|Tropical_pancreatitis|not_specified|Hereditary_pancreatitis|SPINK1-related_disorder	MedGen:C3661900|MONDO:MONDO:0011986,MedGen:C1842402,OMIM:608189,Orphanet:103918|MedGen:CN169374|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.119	0.0125905751832	0.0033	0.00299521	0.0046	0.0014	0.0020	0.0001	0.0022	0.0060	0.0034	0.0064	0.0045084	697	154602	rs111966833	0.0062	0.0062	0.0063	0.0061	0.0070	0.0061	0.0061	0.0068	0.0068	0.0009	0.0024	0.0010	5.053e-05	0.0030	0.0061	0.0070	0.0070	0.0067	0.0037	0.0037	0.0038	0.0037	0.0061	0.0035	0.0034	0.0056	0.0054	0.0010	0	0.0031	0.0012	0	0.0024	0.0034	0.0061	0.0033	0.0054	0.753	0.05468	T	0.704	0.05642	T	0.012	0.16265	B	0.006	0.12133	B	0.061132	0.02141	N	1.864520	1	0.08975	N	.	.	.	-0.67	0.72458	T	-0.77	0.30140	N	0.06	0.03175	-0.9946	0.31405	T	0.080	0.31795	T	9	0.010206819	0.00228	T	0.012591	0.31297	T	0.119	0.33137	.	.	0.154104182512	0.14974	0.7319575142654835	0.73140	0.0190001024195	0.01855	0.266677975655	0.05711	T	0.11976	0.44151	T	-0.573726	0.00210	T	-0.594005	0.13320	T	0.00753080689292876	0.00087	T	0.834017	0.50309	T	0.08077794	0.18526	0.06412293	0.12806	0.066008665	0.14161	0.04189774	0.04867	-2.293	0.04517	T	0.07070805146391029	0.02753	0.129	0.27583	B	.;.	.;.	-3.786930	0.00002	0.001	0.13596742694646741	0.00273	0.00211	0.01201	N	AEFBI	0.056363	0.10414	N	-2.20527475759622	0.00075	0.003192724	-2.37631917493808	0.00044	0.001956046	0.999999999999817	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.9	-9.79	0.00411	-7.042000	0.00058	-20.000000	0.00162	-0.746000	0.03629	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0856:0.3198:0.4031:0.1914	5.027	0.13732	488	0.76887	Kazal domain|Kazal domain|Kazal domain|Kazal domain;Kazal domain|Kazal domain|Kazal domain|Kazal 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	0.003525	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.011364	0.05	681.43	33	chr5	147828053	.	G	A	681.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.353;DP=397;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=0.044;SOR=0.665	GT:AD:DP:GQ:PL	0/1:46,34:80:99:693,0,1001	9	0	1	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	43716.6	395	chr5	157052557	.	C	*	43716.6	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-1.148;DP=5393;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=1.9;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,488:488:99:.:.:21746,1479,0:.	1	4	5	0
chr5	177210738	177210738	C	T	exonic	NSD1	.	nonsynonymous SNV	NSD1:NM_022455:exon5:c.C2339T:p.S780L,NSD1:NM_001365684:exon6:c.C1532T:p.S511L,NSD1:NM_172349:exon6:c.C1532T:p.S511L	Beckwith-Wiedemann syndrome, Autosomal dominant;Leukemia, acute myeloid, Autosomal dominant;Sotos syndrome 1, Autosomal dominant	0	1488	33	1	0	35	0.011624	.	.	YES	239787	not_provided|NSD1-related_disorder|not_specified|Inborn_genetic_diseases|Sotos_syndrome	MedGen:C3661900|.|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019349,MedGen:C0175695,OMIM:117550,Orphanet:821	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.203	0.119532793554	0.0002	0.00159744	0.0015	0.0005	0.0003	0.0001	0	0.0002	0.0033	0.0090	0.0012678	196	154602	rs201327209	0.0007	0.0007	0.0004	0.0009	0.0078	0.0006	0.0006	0.0073	0.0072	0.0006	0.0001	3.826e-05	0.0001	1.872e-05	0.0045	0.0001	0.0013	0.0078	0.0004	0.0004	0.0002	0.0006	0.0079	0.0003	0.0003	0.0059	0.0052	0.0002	0	6.537e-05	0	0	0	0.0034	0.0001	0	0.0079	0.369	0.11586	T	0.157	0.31730	T	0.001	0.07471	B	0.001	0.04355	B	0.479984	0.04976	N	1.312980	1	0.08975	N	0.665	0.16292	N	-2.92	0.91748	D	-0.93	0.24898	N	0.123	0.11483	-0.5315	0.67484	T	0.501	0.81130	D	9	0.0071305633	0.00162	T	0.119533	0.79986	D	0.203	0.48915	.	.	0.285775778912	0.28195	0.1697416330843925	0.16894	0.0501952522484	0.05511	0.305351316929	0.11204	T	0.066807	0.33039	T	-0.46338	0.00936	T	-0.432275	0.29678	T	0.000333618925651535	0.00003	T	0.835416	0.50550	T	0.022735035	0.00958	0.0322699	0.01938	0.02184088	0.00810	0.035779733	0.02895	-3.889	0.23023	T	0.09667254712048216	0.06716	0.062	0.04080	B	.;.;.	.;.;.	1.123340	0.15092	11.58	0.7050257673748207	0.09317	0.11542	0.16702	N	AEFBI	0.038157	0.05359	N	-1.10106651792145	0.06625	0.3054917	-1.05623962233042	0.08577	0.4223897	0.0861538822561668	0.16001	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	2.02	0.25641	0.173000	0.16538	0.725000	0.21043	-0.202000	0.08738	0.002000	0.15269	0.239000	0.23838	0.733000	0.35199	0.0:0.6073:0.0:0.3927	6.754	0.22692	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	0	0	1	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.1	8200.14	42	chr5	177210738	.	C	T	8200.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.38;DP=1752;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.61;SOR=0.702	GT:AD:DP:GQ:PL	0/1:179,153:332:99:3725,0,4120	8	0	2	0
chr5	177334341	177334341	C	T	exonic	LMAN2	.	nonsynonymous SNV	LMAN2:NM_006816:exon7:c.G853A:p.E285K	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0426432264077	.	.	8.305e-06	9.686e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs752157302	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.16e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.16e-05	1.97e-05	1.97e-05	2.568e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	0	0	0.0002	0.18	0.21968	T	0.439	0.17585	T	0.098	0.33274	B	0.012	0.23607	B	0.000543	0.43413	D	0.236509	1	0.81001	D	1.56	0.39490	L	-0.12	0.66474	T	-1.36	0.37759	N	0.653	0.66358	-0.7618	0.57307	T	0.232	0.59782	T	10	0.20031214	0.36073	T	0.042643	0.60572	D	0.139	0.37390	.	.	0.722217207747	0.71976	0.5594991315021695	0.55876	0.429706356098	0.43250	0.512192904949	0.40528	T	0.077065	0.35568	T	-0.143601	0.29316	T	-0.262522	0.48573	T	0.197739420922399	0.20291	T	0.929907	0.74113	D	0.0875577	0.20393	0.110137224	0.26552	0.0875577	0.20393	0.110137224	0.26551	-8.78	0.66270	D	.	.	0.297	0.52720	B	.;.;.	.;.;.	3.325963	0.45769	22.2	0.99495422180082405	0.67687	0.97132	0.72877	D	AEFDGBHI	0.816037	0.73787	D	0.0378841497933693	0.43587	2.648636	0.159010146506558	0.47622	2.989624	0.999999999957968	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	6.170000	0.71810	7.653000	0.63809	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.040000	0.14268	0.0:1.0:0.0:0.0	19.082	0.93169	934	0.15400	VIP36, lectin domain;VIP36, lectin domain;VIP36, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1699.43	35	chr5	177334341	.	C	T	1699.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.743;DP=434;ExcessHet=0;FS=0.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.315;SOR=0.576	GT:AD:DP:GQ:PL	0/1:47,72:119:99:1711,0,1028	9	0	1	0
chr6	7411419	7411419	G	C	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon14:c.G1045C:p.E349Q,RIOK1:NM_031480:exon14:c.G1357C:p.E453Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.032129703999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.283	0.21478	T	0.898	0.49442	P	0.352	0.42883	B	0.000001	0.62929	D	0.096591	1	0.81001	D	0.145	0.08828	N	3.34	0.06063	T	-0.87	0.23590	N	0.338	0.37923	-0.7535	0.57752	T	0.007	0.02478	T	10	0.21544152	0.38097	T	0.03213	0.54036	D	0.225	0.52323	0.335	0.32329	0.388812400583	0.38497	0.3162422768940247	0.31537	0.230302317014	0.25578	0.527692854404	0.42709	T	0.013255	0.11500	T	-0.0972108	0.36887	T	-0.377413	0.36026	T	0.585103784492092	0.35815	D	0.855114	0.54241	D	0.1738056	0.38149	0.18711801	0.41924	0.1738056	0.38149	0.18711801	0.41923	-4.263	0.27655	T	.	.	0.130	0.27939	B	.	.	4.028609	0.59550	24.1	0.99713077346358581	0.81493	0.99847	0.99816	D	AEFBI	0.866036	0.78533	D	0.345006990906183	0.58475	4.020116	0.477039224821321	0.66470	4.956473	0.999999422754696	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	8.892000	0.92141	9.689000	0.81268	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.632	0.91319	664	0.61548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	131.78	78	chr6	7411419	.	G	C	131.78	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-3.634;DP=940;ExcessHet=1.5895;FS=160.175;InbreedingCoeff=-0.3345;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.831;SOR=10.2	GT:AD:DP:GQ:PL	0/1:68,19:94:72:72,0,1043	4	0	4	2
chr6	24145554	24145554	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196G:p.L66V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0244498327376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.997	0.70673	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.995	0.54099	M	2.04	0.38397	T	-1.04	0.27259	N	0.598	0.61680	-1.0261	0.21723	T	0.105	0.38341	T	10	0.38316447	0.54345	T	0.02445	0.47438	T	0.159	0.41286	0.222	0.14518	0.592685350901	0.58946	0.5903367191441313	0.58963	1.01389843922	0.74865	0.620901226997	0.55857	T	0.070066	0.33867	T	0.0642638	0.60145	T	-0.145466	0.59643	T	0.947459578514099	0.62685	D	0.808619	0.45852	T	0.4937834	0.66727	0.37499517	0.62653	0.4937834	0.66728	0.37499517	0.62652	-4.546	0.31486	T	.	.	0.126	0.27222	B	.;.;.	.;.;.	4.497323	0.70306	25.5	0.99826269118642064	0.90852	0.95160	0.63658	D	AEFBCI	0.809917	0.73329	D	0.709881601940465	0.80282	7.259509	0.688265315290989	0.81488	7.538295	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	1640.75	71	chr6	24145554	.	C	G	1640.75	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.77;DP=720;ExcessHet=10.3881;FS=223.591;InbreedingCoeff=-0.6667;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=3.29;ReadPosRankSum=-0.196;SOR=10.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,9:59:10:.:.:104,0,1228:.	7	0	3	0
chr6	24842869	24842869	A	C	exonic	RIPOR2	.	nonsynonymous SNV	RIPOR2:NM_001286445:exon13:c.T1850G:p.I617S,RIPOR2:NM_001286446:exon13:c.T1865G:p.I622S,RIPOR2:NM_001286447:exon13:c.T1763G:p.I588S,RIPOR2:NM_001346031:exon13:c.T1763G:p.I588S,RIPOR2:NM_001346032:exon13:c.T1763G:p.I588S,RIPOR2:NM_015864:exon13:c.T1763G:p.I588S,RIPOR2:NM_014722:exon14:c.T1913G:p.I638S	.	.	.	.	.	.	.	.	.	.	.	654431	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.199	.	0.0046	0.00459265	0.0014	0.0148	0.0010	0	0	4.848e-05	0	0.0001	0.001216	188	154602	rs115013548	0.0004	0.0004	0.0004	0.0004	0.0126	0.0004	0.0004	0.0115	0.0111	0.0126	0.0012	0	0	0	0.0012	9.779e-05	0.0008	1.884e-05	0.0038	0.0038	0.0039	0.0037	0.0131	0.0035	0.0034	0.0122	0.0118	0.0131	0	0.0012	0	0	0	0.0068	7.351e-05	0.0009	0	0.017	0.78490	D	0.084	0.48080	T	0.953	0.54283	P	0.636	0.51948	P	0.010870	0.29752	N	0.406049	0.984085	0.40098	D	.	.	.	1.27	0.36146	T	-2.4	0.52776	N	0.568	0.59138	-1.0672	0.10039	T	0.053	0.22346	T	10	0.007960498	0.00181	T	.	.	.	0.199	0.48268	.	.	0.20808081866	0.20439	0.31100943527934666	0.31013	0.495279647941	0.48067	0.328204780817	0.14663	T	0.014853	0.27163	T	-0.34467	0.05071	T	-0.255547	0.49268	T	0.0544016967552571	0.06257	T	0.878612	0.77758	D	0.29266036	0.52239	0.27040035	0.52930	0.27618742	0.50680	0.3191964	0.57881	-7.158	0.55179	T	.	.	0.315	0.67462	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.592646	0.72660	25.9	0.99027723341638474	0.50721	0.99555	0.97394	D	AEBI	0.919354	0.88975	D	0.428827649547544	0.63014	4.527143	0.515745925949157	0.69049	5.305137	0.999999765516456	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.12	5.12	0.69459	8.506000	0.90349	11.097000	0.86042	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.083	0.71800	755	0.51144	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	686.43	33	chr6	24842869	.	A	C	686.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.2;DP=392;ExcessHet=0;FS=3.178;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=1.22;SOR=0.368	GT:AD:DP:GQ:PL	0/1:43,32:75:99:698,0,989	9	0	1	0
chr6	25923748	25923748	C	T	exonic	SLC17A2	.	nonsynonymous SNV	SLC17A2:NM_001286125:exon2:c.G187A:p.V63I,SLC17A2:NM_001286123:exon3:c.G187A:p.V63I,SLC17A2:NM_005835:exon3:c.G187A:p.V63I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00427022667442	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229423457	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09629	T	0.403	0.14865	T	0.032	0.20242	B	0.023	0.21085	B	0.133187	0.02825	U	2.117960	1	0.08975	N	0.345	0.11182	N	0.91	0.44856	T	-0.51	0.15986	N	0.133	0.15888	-1.0566	0.12621	T	0.022	0.09193	T	10	0.048917174	0.04408	T	0.00427	0.10341	T	0.009	0.00846	0.414	0.45216	0.0297737177859	0.01360	0.07244114969078656	0.07181	0.175722224734	0.19779	0.233947008848	0.02273	T	0.128046	0.45546	T	-0.42091	0.01687	T	-0.74553	0.03662	T	0.0203009340365927	0.00730	T	0.112089	0.00902	T	0.021564985	0.00766	0.026425095	0.00731	0.021564985	0.00766	0.026425095	0.00731	-4.601	0.32184	T	.	.	0.073	0.06341	B	.;.;.	.;.;.	0.226816	0.06087	2.529	0.70859119482331157	0.09435	0.04339	0.09901	N	AEFBI	0.144997	0.26811	N	-1.31216736309469	0.03535	0.1580687	-1.29888137399362	0.04446	0.2097381	0.00455901836557615	0.10614	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.44	-0.477	0.11493	-0.108000	0.10827	0.834000	0.21977	-0.822000	0.02949	0.000000	0.06391	0.000000	0.08366	0.394000	0.26647	0.292:0.345:0.3629:0.0	4.464	0.11100	496	0.76301	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	.	.	.	.	.	.	.	.	0.05	1018.43	33	chr6	25923748	.	C	T	1018.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.209;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-1.702;SOR=0.67	GT:AD:DP:GQ:PL	0/1:69,49:118:99:1030,0,1610	9	0	1	0
chr6	26388144	26388144	G	A	exonic	BTN2A2	.	nonsynonymous SNV	BTN2A2:NM_181531:exon3:c.G226A:p.A76T,BTN2A2:NM_001197237:exon4:c.G574A:p.A192T,BTN2A2:NM_001197238:exon4:c.G574A:p.A192T,BTN2A2:NM_006995:exon4:c.G574A:p.A192T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0167294070413	.	.	0.0001	0.0012	0.0002	0	0	0	0	0	9.7e-05	15	154602	rs144410497	9.713e-05	9.713e-05	9.937e-05	9.488e-05	0.0014	8.376e-05	7.915e-05	0.0011	0.0010	0.0014	0.0002	0	0	0	0.0005	6.025e-05	0.0002	1.159e-05	0.0003	0.0003	0.0004	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	6.534e-05	0	0	0	0	2.94e-05	0.0014	0.0002	0.187	0.21385	T	0.316	0.33000	T	0.448	0.36030	B	0.049	0.25116	B	0.972524	0.07788	N	1.013840	1	0.28876	N	1.505	0.38159	L	-1.07	0.76948	T	-1.33	0.43717	N	0.041	0.01421	-1.0483	0.14875	T	0.093	0.35417	T	10	0.017892152	0.00385	T	0.016729	0.38123	T	0.205	0.49236	.	.	0.528009843598	0.52448	0.0782451449598303	0.07760	0.185749705581	0.20887	0.226586729288	0.01725	T	0.026669	0.19686	T	-0.441637	0.01265	T	-0.463505	0.26218	T	0.010473016104982	0.00145	T	0.451055	0.13018	T	0.08485201	0.19658	0.0593193	0.11111	0.08485201	0.19658	0.0593193	0.11110	-6.322	0.51863	T	.	.	0.080	0.15921	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.229804	0.02942	0.432	0.79104353525013849	0.12592	0.00799	0.03256	N	AEFDGBHCI	0.044210	0.07085	N	-1.84045837105435	0.00454	0.01951271	-1.98915202852425	0.00323	0.01425634	0.999999965992899	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.696144	0.63334	0	0.669	0.65921	0	.	.	4.11	-7.03	0.01428	-0.863000	0.04367	-5.927000	0.01550	-3.487000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2028:0.1011:0.2592:0.4368	1.532	0.02384	693	0.58582	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2105.43	33	chr6	26388144	.	G	A	2105.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.118;DP=506;ExcessHet=0;FS=0.52;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=0.419;SOR=0.739	GT:AD:DP:GQ:PL	0/1:111,88:199:99:2117,0,2707	9	0	1	0
chr6	26451935	26451935	C	A	exonic	BTN3A3	.	nonsynonymous SNV	BTN3A3:NM_001242803:exon6:c.C649A:p.P217T,BTN3A3:NM_197974:exon10:c.C1132A:p.P378T,BTN3A3:NM_006994:exon11:c.C1279A:p.P427T	.	.	.	.	.	.	.	.	.	.	.	2439335	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.222	0.0254519810398	.	0.000199681	4.943e-05	0.0004	8.64e-05	0	0	0	0	6.057e-05	5.82e-05	9	154602	rs113551647	4.173e-05	4.173e-05	3.947e-05	4.4e-05	0.0010	3.31e-05	3.001e-05	0.0007	0.0007	0.0010	6.708e-05	0	0	0	0	0	0.0003	5.797e-05	0.0002	0.0002	0.0002	0.0001	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	6.544e-05	0	0	0	0	0	0	0	0.054	0.38633	T	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	2.065	0.56745	M	-0.46	0.70014	T	-6.51	0.92217	D	0.186	0.33904	-0.7546	0.57694	T	0.323	0.69195	T	9	0.14418688	0.27366	T	0.025452	0.48419	D	0.222	0.51872	.	.	0.800185402434	0.79832	0.17372745244428012	0.17292	0.281953496348	0.30663	0.370810031891	0.20949	T	0.242118	0.61079	T	-0.274918	0.11215	T	-0.263927	0.48432	T	0.302416205406189	0.25104	T	0.843016	0.51993	T	0.25086027	0.48090	0.14523232	0.34453	0.25086027	0.48090	0.14523232	0.34452	-9.103	0.70204	D	.	.	0.423	0.60805	A	.;.	.;.	2.375404	0.30488	18.45	0.98893110217014901	0.48037	0.39084	0.26133	N	AEFGBI	0.133292	0.25290	N	-0.111360302056991	0.36898	2.139077	-0.361592506175287	0.26152	1.443	0.999941444489671	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	3.15	2.27	0.27501	1.870000	0.39166	2.120000	0.30714	0.465000	0.21702	0.830000	0.30133	0.026000	0.21063	0.186000	0.21481	0.0:0.7287:0.0:0.2713	5.781	0.17569	667	0.61242	SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 3, PRY/SPRY domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1604.43	34	chr6	26451935	.	C	A	1604.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.378;DP=441;ExcessHet=0;FS=2.695;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.56;MQRankSum=0.128;QD=16.54;ReadPosRankSum=-0.876;SOR=0.985	GT:AD:DP:GQ:PL	0/1:39,58:97:99:1616,0,1053	9	0	1	0
chr6	27310582	27310582	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C1589T:p.A530V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00457380117422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931459915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.025	0.56192	D	.	.	.	.	.	.	0.055521	0.22635	N	0.224693	0.852663	0.28474	N	1.385	0.34509	L	1.94	0.22678	T	-2.33	0.51646	N	0.033	0.00882	-1.0093	0.27136	T	0.021	0.08917	T	10	0.06081772	0.07530	T	0.004574	0.11283	T	0.037	0.09474	0.228	0.15406	0.0401082797425	0.02173	0.28922171704253374	0.28835	.	.	0.254709690809	0.04280	T	0.016631	0.13711	T	-0.321687	0.06761	T	-0.699857	0.05834	T	0.437501043081284	0.30337	T	0.454055	0.12934	T	0.08149508	0.18729	0.12834299	0.30879	0.08149508	0.18729	0.12834299	0.30878	-3.999	0.23789	T	.	.	0.122	0.25364	B	.	.	1.722228	0.21927	15.41	0.99824631958357912	0.90677	0.35993	0.25431	N	AEFDBI	0.065033	0.12662	N	-0.709333535591486	0.15758	0.7970068	-0.707749686166026	0.16767	0.8885786	0.00176535619173559	0.08861	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.41	2.64	0.30504	1.255000	0.32512	1.631000	0.27739	-0.186000	0.09761	0.088000	0.22533	0.006000	0.19429	0.249000	0.23237	0.2046:0.0:0.7954:0.0	7.159	0.24831	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	438.25	75	chr6	27310582	.	G	A	438.25	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-3.12;DP=778;ExcessHet=2.8389;FS=220.933;InbreedingCoeff=-0.4801;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=0.511;SOR=9.641	GT:AD:DP:GQ:PL	0/1:70,27:97:68:68,0,1538	2	0	5	3
chr6	30112534	30112534	T	C	exonic	TRIM31	.	nonsynonymous SNV	TRIM31:NM_007028:exon2:c.A272G:p.K91R	.	.	.	.	.	.	.	.	.	.	.	3336904	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.00231397836985	0.0001	.	2.58e-05	0	0	0.0001	0	1.578e-05	0	6.149e-05	2.59e-05	4	154602	rs111260969	3.286e-05	3.283e-05	2.588e-05	3.991e-05	0.0004	2.545e-05	2.25e-05	0.0003	0.0002	0.0004	0	0	5.038e-05	0	0.0003	7.194e-06	0.0002	8.115e-05	1.97e-05	1.97e-05	1.284e-05	2.689e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.093	0.31532	T	0.124	0.35455	T	0.996	0.68779	D	0.937	0.67262	D	0.232017	0.15900	N	0.463335	1	0.08975	N	1.175	0.29870	L	0.96	0.42888	T	-0.38	0.13418	N	0.065	0.03726	-1.0551	0.13013	T	0.060	0.25163	T	10	0.13748047	0.26151	T	0.002314	0.04452	T	0.026	0.05648	.	.	0.486993258117	0.48330	0.018621151488181987	0.01816	0.225144669381	0.25054	0.288397073746	0.08689	T	0.001253	0.00742	T	-0.519746	0.00441	T	-0.692207	0.06262	T	0.355045288801193	0.27216	T	.	.	.	0.034623206	0.03922	0.052264173	0.08575	0.034623206	0.03921	0.052264173	0.08574	-4.47	0.30494	T	.	.	0.094	0.14339	B	.	.	1.076697	0.14596	11.16	0.98313281859511081	0.40164	0.02079	0.06185	N	AEFGBI	0.063208	0.12200	N	-0.513523141100999	0.21643	1.150042	-0.739169585112855	0.15989	0.843662	0.999320293829807	0.39149	0.446893	0.09132	0	0.475579	0.06741	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	3.43	0.953	0.18714	-1.461000	0.02472	.	.	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.2367:0.0:0.7633	6.152	0.19537	846	0.36215	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000545	0.000000	0.000000	0.005319	0.000000	0.000000	0.000000	0.000000	0.05	1719.43	94	chr6	30112534	.	T	C	1719.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.65;DP=649;ExcessHet=0;FS=0.555;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=1.48;SOR=0.657	GT:AD:DP:GQ:PL	0/1:93,83:176:99:1731,0,2176	9	0	1	0
chr6	30137212	30137212	C	A	exonic	TRIM40	.	nonsynonymous SNV	TRIM40:NM_138700:exon1:c.C176A:p.P59H,TRIM40:NM_001286633:exon2:c.C176A:p.P59H	.	414	1056	48	4	0	56	0.0258303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	.	0.0084	0.0091853	0.0078	0.0127	0.0078	0.0008	0.0006	0.0072	0.0080	0.0139	0.0074385	1150	154602	rs113286964	0.0068	0.0068	0.0066	0.0071	0.0442	0.0067	0.0067	0.0398	0.0380	0.0157	0.0092	0.0321	0.0005	0.0005	0.0442	0.0055	0.0095	0.0139	0.0087	0.0087	0.0089	0.0084	0.0127	0.0083	0.0081	0.0118	0.0114	0.0127	0	0.0125	0.0294	0.0015	0.0002	0.0272	0.0058	0.0156	0.0110	0.008	0.58626	D	0.012	0.63918	D	0.998	0.73220	D	0.879	0.62418	P	0.008778	0.30676	N	0.153445	0.826059	0.28821	N	2.33	0.66821	M	-0.37	0.68892	T	-4.5	0.86836	D	0.373	0.54584	-0.6586	0.62337	T	0.298	0.66896	T	10	0.008277625	0.00188	T	.	.	.	0.278	0.59497	.	.	0.830862327854	0.82926	0.26994882380630675	0.26907	0.397623300563	0.40847	0.397951006889	0.24783	T	0.026128	0.19398	T	-0.334634	0.05769	T	-0.241131	0.50688	T	0.0232735893105862	0.01056	T	.	.	.	0.10806135	0.25552	0.22598116	0.47561	0.10806135	0.25551	0.22598116	0.47560	-7.431	0.58262	T	.	.	0.187	0.41310	B	.;.;.	.;.;.	3.879740	0.56379	23.7	0.99646130465205418	0.77005	0.81979	0.41280	D	AEFDGBHCI	0.257681	0.37636	N	0.471897669294191	0.65455	4.824772	0.421122842855861	0.62885	4.511504	0.999789919792406	0.43007	0.446893	0.09132	0	0.563428	0.19063	0	0.48864	0.07692	0	0.530356	0.10902	0	.	.	4.69	3.8	0.42887	1.351000	0.33626	.	.	0.526000	0.24426	0.563000	0.27449	0.998000	0.33993	0.222000	0.22517	0.0:0.895:0.0:0.105	8.887	0.34571	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029956	0.030303	0.046196	0.031915	0.000000	0.017241	0.012195	0.015152	0.05	1357.43	42	chr6	30137212	.	C	A	1357.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.932;DP=459;ExcessHet=0;FS=2.584;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.574;SOR=0.466	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1369,0,1485	9	0	1	0
chr6	30586216	30586216	C	T	exonic	ABCF1	.	nonsynonymous SNV	ABCF1:NM_001090:exon17:c.C1682T:p.P561L,ABCF1:NM_001025091:exon18:c.C1796T:p.P599L	.	428	1093	1	0	0	1	0.000457247	.	.	.	710390	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.050	.	0.0085	0.00998403	0.0025	0.0276	0.0009	0	0	1.509e-05	0	0.0001	0.0024191	374	154602	rs115337170	0.0008	0.0008	0.0009	0.0006	0.0281	0.0007	0.0007	0.0266	0.0260	0.0281	0.0011	0	0	0	0.0007	2.338e-05	0.0013	8.115e-05	0.0073	0.0073	0.0074	0.0071	0.0255	0.0069	0.0068	0.0242	0.0237	0.0255	0	0.0024	0	0	0	0	5.881e-05	0.0038	0	0.041	0.41915	D	0.224	0.28575	T	0.06	0.23119	B	0.065	0.27321	B	0.029676	0.25420	N	0.442983	0.999915	0.81001	D	1.32	0.33002	L	0.54	0.54911	T	-2.32	0.51478	N	0.349	0.42050	-1.0675	0.09971	T	0.066	0.27295	T	10	0.0077928603	0.00177	T	.	.	.	0.050	0.13987	.	.	0.781959415027	0.77994	0.24412009190347728	0.24326	0.786526509443	0.65546	0.576090455055	0.49535	T	0.086251	0.37683	T	-0.476963	0.00771	T	-0.437628	0.29075	T	0.0229580308832179	0.01019	T	.	.	.	0.07815728	0.17780	0.09583079	0.22744	0.07815728	0.17780	0.09583079	0.22744	-8.368	0.63552	D	.	.	0.103	0.18580	B	.;.	.;.	4.032610	0.59644	24.1	0.997374645234261	0.83264	0.92668	0.56256	D	AEFBI	0.292895	0.40365	N	-0.0903685184820714	0.37814	2.205466	0.0616880139790793	0.42641	2.582676	0.974446816048452	0.29543	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.8	4.8	0.61157	3.016000	0.49294	.	.	0.599000	0.40250	0.652000	0.28189	1.000000	0.68203	0.996000	0.76049	0.0:0.909:0.0:0.091	10.396	0.43382	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	0	0	1	0	0.001089	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.1	1752.14	35	chr6	30586216	.	C	T	1752.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.92;DP=455;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.455;SOR=0.693	GT:AD:DP:GQ:PL	0/1:39,36:75:99:814,0,757	8	0	2	0
chr6	30677273	30677273	C	T	exonic	PPP1R18	.	nonsynonymous SNV	PPP1R18:NM_133471:exon3:c.G1838A:p.R613Q,PPP1R18:NM_001134870:exon4:c.G1838A:p.R613Q	.	433	1088	1	0	0	1	0.000459348	.	.	.	710392	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0080	0.00958466	0.0021	0.0270	0.0009	0	0	3.163e-05	0	0.0001	0.0020763	321	154602	rs74802004	0.0008	0.0008	0.0009	0.0006	0.0277	0.0007	0.0007	0.0262	0.0256	0.0277	0.0012	0	0	0	0.0007	5.324e-05	0.0013	0.0001	0.0072	0.0072	0.0073	0.0071	0.0252	0.0069	0.0067	0.0240	0.0235	0.0252	0	0.0025	0	0	0	0	5.884e-05	0.0038	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.988	0.77976	D	0.000840	0.41547	D	0.095007	0.61772	0.32677	D	0.975	0.24501	L	1.08	0.39401	T	-0.99	0.26200	N	0.395	0.59308	-0.9250	0.44858	T	0.111	0.39864	T	10	0.0069939196	0.00159	T	.	.	.	0.101	0.28911	.	.	0.574877809555	0.57156	0.2909268052166772	0.29005	1.43599143894	0.85891	0.688641548157	0.65511	T	0.008228	0.07566	T	-0.467503	0.00881	T	-0.42404	0.30613	T	0.0854999207262403	0.10675	T	0.873313	0.58144	D	0.120588824	0.28372	0.11121444	0.26824	0.120588824	0.28372	0.11121444	0.26823	-4.233	0.27226	T	.	.	0.531	0.67034	A	.;.;.;.	.;.;.;.	5.364411	0.89950	31	0.99946952941574518	0.99913	0.97480	0.75020	D	AEFBI	0.627867	0.61017	D	0.523348873466614	0.68475	5.222147	0.530455199908956	0.70049	5.448407	0.999992412203373	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	3.714000	0.54618	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	13.047	0.58340	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	0	0	1	0	0.001089	0.000000	0.001359	0.000000	0.000000	0.008772	0.000000	0.000000	0.1	1353.14	34	chr6	30677273	.	C	T	1353.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.43;DP=392;ExcessHet=0.2348;FS=1.457;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.052;SOR=0.846	GT:AD:DP:GQ:PL	0/1:31,21:52:99:506,0,711	8	0	2	0
chr6	30744440	30744440	G	A	exonic	IER3	.	nonsynonymous SNV	IER3:NM_003897:exon1:c.C79T:p.P27S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00680056739629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.45393	D	0.263	0.22828	T	0.403	0.34918	B	0.12	0.32230	B	0.525251	0.11697	N	0.774714	0.998794	0.21902	N	1.265	0.31966	L	0.97	0.42502	T	-3.89	0.72820	D	0.059	0.04188	-1.0702	0.09370	T	0.043	0.18701	T	10	0.11837813	0.22378	T	0.006801	0.17982	T	0.036	0.09122	0.207	0.12356	0.239312915715	0.23560	0.2789742496252833	0.27810	0.95220496257	0.72685	0.389601141214	0.23614	T	0.069527	0.45773	T	-0.245601	0.14642	T	-0.590566	0.13616	T	0.31561067700386	0.25643	T	0.757524	0.38090	T	0.056013778	0.10965	0.085588396	0.19771	0.056013778	0.10964	0.085588396	0.19770	-3.327	0.14087	T	.	.	0.173	0.37951	B	.;.	.;.	2.117870	0.26958	17.30	0.99883500412784387	0.95892	0.82965	0.42126	D	ALL	0.174255	0.30137	N	-0.20283686406666	0.33017	1.868544	-0.139942782481341	0.33797	1.937141	0.999999999999999	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	5.04	3.09	0.34677	0.668000	0.24808	.	.	0.676000	0.76740	0.512000	0.27048	0.999000	0.35428	0.754000	0.35928	0.0:0.3683:0.6317:0.0	10.959	0.46589	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	526.43	38	chr6	30744440	.	G	A	526.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.181;DP=338;ExcessHet=0;FS=3.891;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.5;ReadPosRankSum=-1.218;SOR=0.223	GT:AD:DP:GQ:PL	0/1:7,20:27:99:538,0,139	9	0	1	0
chr6	30949980	30949980	C	T	exonic	MUCL3	.	nonsynonymous SNV	MUCL3:NM_080870:exon2:c.C1516T:p.P506S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0104016219111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.716e-06	5.473e-06	7.049e-06	4.346e-06	9.499e-05	2.46e-06	1.78e-06	2.517e-05	1.297e-05	9.499e-05	0	0	0	0	0	4.634e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.987	0.02382	T	0.002	0.09854	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	.	.	.	0.52	0.55266	T	-0.62	0.18248	N	0.078	0.05287	-1.0065	0.28004	T	0.034	0.14639	T	9	0.045794934	0.03692	T	0.010402	0.26893	T	0.043	0.11576	0.096	0.01287	0.119812018005	0.11559	0.11788362170384438	0.11715	0.51714929334	0.49591	0.167696684599	0.00024	T	0.013869	0.11911	T	-0.344515	0.05082	T	-0.732648	0.04209	T	0.0248842166205285	0.01257	T	0.458254	0.13193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.40015	B	.;.	.;.	-0.479215	0.01934	0.164	0.51329835975371008	0.04543	0.00308	0.01632	N	AEFBI	0.017240	0.00439	N	-1.51434915942037	0.01755	0.07685248	-1.66368560213484	0.01307	0.05895707	0.969764647078665	0.29154	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	1.95	-3.9	0.03904	-0.753000	0.04897	.	.	-0.580000	0.04711	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2247:0.1917:0.4107:0.1729	1.600	0.02511	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	.	.	.	.	.	.	.	.	0.05	4011.43	456	chr6	30949980	.	C	T	4011.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.042;DP=3264;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.49;MQRankSum=-0.151;QD=10.81;ReadPosRankSum=-0.71;SOR=0.692	GT:AD:DP:GQ:PL	0/1:200,171:371:99:4023,0,5382	9	0	1	0
chr6	31025754	31025754	C	G	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.C323G:p.T108S,MUC22:NM_001318484:exon3:c.C332G:p.T111S,MUC22:NM_001322469:exon3:c.C332G:p.T111S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00937838156048	.	0.000199681	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs564563449	2.541e-05	2.539e-05	2.58e-05	2.501e-05	0.0007	1.845e-05	1.633e-05	0.0003	0.0002	0.0005	2.814e-05	0	0	0	0.0007	2.794e-06	0.0001	5.065e-05	1.971e-05	1.969e-05	3.856e-05	0	0.0002	5.24e-06	2.45e-06	.	.	2.409e-05	0	0	0	0	0	0	0	0.0005	0.0002	0.0	0.91255	D	0.127	0.35082	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.61	0.13095	T	-0.58	0.17417	N	0.036	0.01068	.	.	.	.	.	.	.	0.042425305	0.02990	T	0.009378	0.24600	T	.	.	.	.	0.180583059064	0.17676	0.010325232448864775	0.00993	.	.	0.172717779875	0.00044	T	0.005563	0.05012	T	-0.46297	0.00942	T	-0.708492	0.05373	T	.	.	.	0.444056	0.12368	T	0.06790281	0.14747	0.06764038	0.14021	0.06790281	0.14747	0.06764038	0.14021	-6.018	0.46431	T	.	.	0.108	0.20274	B	.	.	-0.301168	0.02613	0.326	0.25825568868026616	0.01209	0.05487	0.11371	N	AEFBI	0.019563	0.00691	N	.	.	.	.	.	.	0.027637842681393	0.13784	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.18	1.18	0.20058	0.088000	0.14821	.	.	-0.992000	0.01845	0.000000	0.06391	0.006000	0.19429	0.000000	0.00833	0.0:1.0:0.0:0.0	5.590	0.16579	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	.	.	.	.	.	.	.	.	0.05	3494.43	362	chr6	31025754	.	C	G	3494.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=3208;ExcessHet=0;FS=3.048;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.679;SOR=0.866	GT:AD:DP:GQ:PL	0/1:169,142:311:99:3506,0,4172	9	0	1	0
chr6	31144749	31144749	C	T	exonic	CCHCR1	.	nonsynonymous SNV	CCHCR1:NM_001105563:exon15:c.G1997A:p.R666Q,CCHCR1:NM_001105564:exon15:c.G2105A:p.R702Q,CCHCR1:NM_019052:exon15:c.G1838A:p.R613Q	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0415474470555	0.0008	0.000199681	0.0004	0.0024	0.0004	0.0002	0	0.0003	0.0022	6.151e-05	0.0004463	69	154602	rs111409280	0.0004	0.0004	0.0004	0.0004	0.0037	0.0004	0.0004	0.0031	0.0029	0.0037	0.0005	3.826e-05	0.0001	1.873e-05	0.0014	0.0003	0.0008	9.277e-05	0.0007	0.0007	0.0008	0.0006	0.0017	0.0006	0.0005	0.0014	0.0013	0.0017	0	0.0009	0	0.0002	0	0	0.0003	0.0009	0	0.023	0.49117	D	0.452	0.23776	T	1.0	0.90584	D	0.934	0.66904	D	0.845437	0.09002	N	0.910388	0.985756	0.24681	N	2.28	0.64929	M	3.26	0.06681	T	-0.75	0.27463	N	0.466	0.51851	-1.0187	0.24139	T	0.024	0.10013	T	10	0.019592017	0.00440	T	0.041547	0.59986	D	0.117	0.32689	.	.	0.215869574891	0.21205	0.2122240625526656	0.21138	1.36001356848	0.84308	0.51328343153	0.40681	T	0.021835	0.27127	T	-0.468524	0.00868	T	-0.451636	0.27516	T	0.0389666507555052	0.03504	T	0.856614	0.54540	D	0.06447781	0.13684	0.095341526	0.22608	0.06447781	0.13684	0.095341526	0.22608	-4.456	0.33307	T	.	.	0.087	0.14062	B	.;.;.;.	.;.;.;.	4.276892	0.65116	24.8	0.99896264295381398	0.96895	0.77429	0.38069	D	AEFDBI	0.114483	0.22547	N	0.190921525701157	0.50763	3.263312	0.10742419973521	0.44925	2.76513	0.716621120648324	0.22882	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.96	3.11	0.34883	2.642000	0.46262	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.7776:0.0:0.2224	7.122	0.24628	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	0.005435	0.000000	0.008152	0.015625	0.000000	0.000000	0.006098	0.003788	0.05	1545.43	34	chr6	31144749	.	C	T	1545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=460;ExcessHet=0;FS=3.66;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.062;SOR=1.071	GT:AD:DP:GQ:PL	0/1:47,57:104:99:1557,0,1077	9	0	1	0
chr6	31161488	31161488	C	A	exonic	TCF19	.	nonsynonymous SNV	TCF19:NM_001077511:exon3:c.C280A:p.L94M,TCF19:NM_007109:exon3:c.C280A:p.L94M,TCF19:NM_001318908:exon4:c.C280A:p.L94M	.	435	1086	1	0	0	1	0.000460193	.	.	.	3331802	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.173	0.0167933427559	0.0003	.	0.0001	0.0013	8.797e-05	0	0	3.299e-05	0	0	9.06e-05	14	154602	rs201756282	5.861e-05	6.772e-05	6.626e-05	5.064e-05	0.0020	4.771e-05	4.413e-05	0.0016	0.0014	0.0020	3.97e-05	0	0	0	0.0004	1.907e-06	0.0002	4.624e-05	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0001	0.0005	0.0005	0.0007	0	0.0001	0	0	0	0	1.47e-05	0	0	0.207	0.24955	T	0.229	0.25827	T	0.877	0.48223	P	0.675	0.53279	P	0.012171	0.29266	N	0.351146	0.677033	0.30313	N	0.685	0.16464	N	-2.17	0.86624	D	0.11	0.08187	N	0.284	0.32148	-0.5843	0.65447	T	0.291	0.66297	T	10	0.04293096	0.03091	T	0.016793	0.38210	T	0.173	0.43840	.	.	0.657190473102	0.65432	0.2307501388189129	0.22990	1.35547843788	0.84179	0.535756826401	0.43847	T	0.092065	0.38927	T	-0.332114	0.05953	T	-0.311829	0.43462	T	0.0762015648819054	0.09494	T	0.644935	0.32652	T	0.15793853	0.35559	0.10238509	0.24539	0.15793853	0.35558	0.10238509	0.24538	-5.676	0.43479	T	.	.	0.122	0.33619	B	.;.;.	.;.;.	3.225934	0.43974	21.8	0.99557036419980594	0.71521	0.34663	0.25120	N	AEFDBHCI	0.124242	0.24020	N	0.105483232377259	0.46719	2.907959	0.184194684862978	0.48982	3.106948	0.999999770190653	0.74766	0.634777	0.41761	0	0.685571	0.66316	0	0.606735	0.37207	0	0.645665	0.59343	0	.	.	5.71	3.83	0.43287	0.745000	0.25927	.	.	0.589000	0.31548	0.996000	0.39380	1.000000	0.68203	0.997000	0.79791	0.1615:0.5971:0.1562:0.0852	4.170	0.09785	929	0.16858	Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;Forkhead-associated (FHA) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002176	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1637.43	35	chr6	31161488	.	C	A	1637.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.067;DP=439;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.229;SOR=0.598	GT:AD:DP:GQ:PL	0/1:60,67:127:99:1649,0,1372	9	0	1	0
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M,HLA-C:NM_002117:exon5:c.G979A:p.V327M	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.069628	0.045455	0.089552	0.028090	0.000000	0.046296	0.069930	0.077236	0.25	11464.1	165	chr6	31270002	.	C	T	11464.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.258;DP=1405;ExcessHet=0.2065;FS=0.534;InbreedingCoeff=0.2;MLEAC=5;MLEAF=0.25;MQ=59.39;MQRankSum=0.59;QD=23.4;ReadPosRankSum=1.55;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,120:120:99:1|1:31269990_T_C:5400,361,0:31269990	6	1	3	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I,HLA-C:NM_002117:exon4:c.G855T:p.M285I	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.091557	0.090909	0.091281	0.080645	0.150000	0.025862	0.129630	0.109848	0.25	4050.13	68	chr6	31270250	.	C	A	4050.13	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.496;DP=744;ExcessHet=0.2065;FS=1.027;InbreedingCoeff=0.2;MLEAC=5;MLEAF=0.25;MQ=49.57;MQRankSum=-1.008;QD=17.69;ReadPosRankSum=-1.436;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,41:41:99:1|1:31270154_CAGA_C:1845,123,0:31270154	6	1	3	0
chr6	31355317	31355317	C	T	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.G895A:p.E299K	.	1	1508	13	0	0	13	0.00429185	0.9995	0.982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0122218025182	.	.	0.0002	0.0003	0	0	0	0.0002	0	0.0004	0.0002393	37	154602	rs2308500	1.17e-05	7.253e-05	9.59e-06	1.383e-05	0.0002	7.13e-06	5.83e-06	9.27e-06	4.57e-06	0	0	0	0	0	0.0002	1.085e-05	1.672e-05	3.491e-05	1.738e-05	0.0001	3.341e-05	0	3.426e-05	2.89e-06	1.08e-06	5.68e-06	2.13e-06	0	0	0	0	0	0	0	3.426e-05	0	0	0.011	0.55530	D	0.04	0.50809	D	0.001	0.07471	B	0.003	0.08700	B	0.051841	0.22945	U	0.214071	0.957019	0.26277	N	.	.	.	2.4	0.15608	T	-2.03	0.46673	N	0.276	0.31253	-0.9565	0.39825	T	0.124	0.42862	T	9	0.13269022	0.25254	T	0.012222	0.30597	T	0.203	0.48915	.	.	0.38242337071	0.37855	0.36252558072934316	0.36166	0.248699058187	0.27433	.	.	.	0.02485	0.18695	T	-0.325109	0.06488	T	-0.398796	0.33525	T	0.0325112404537327	0.02390	T	0.739226	0.35772	T	0.5487379	0.69885	0.35058028	0.60665	0.5487379	0.69886	0.35058028	0.60665	-7.555	0.57996	D	.	.	0.106	0.41602	B	.;.;.	.;.;.	3.948253	0.57820	23.9	0.99458550603173124	0.65684	0.43796	0.27177	N	AEFBHCI	0.191715	0.31890	N	0.330483401013941	0.57718	3.940387	0.169612600684755	0.48189	3.038366	0.999997039791642	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	2.28	0.27583	0.782000	0.26449	.	.	-0.313000	0.06017	0.999000	0.42656	0.000000	0.08366	0.038000	0.14061	0.0:0.8596:0.0:0.1404	6.408	0.20877	934	0.15400	.;.;.	.	.	.	.	.	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	0.004278	0.010101	0.002717	0.004464	0.000000	0.000000	0.012195	0.000000	0.05	307.43	173	chr6	31355317	.	C	T	307.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.729;DP=1300;ExcessHet=0;FS=1.366;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.62;MQRankSum=-6.387;QD=2.46;ReadPosRankSum=-1.263;SOR=0.826	GT:AD:DP:GQ:PL	0/1:98,27:125:99:319,0,2755	9	0	1	0
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.220557	0.202020	0.191576	0.234234	0.150000	0.250000	0.253049	0.268939	0.2	1482.57	199	chr6	31355338	.	T	C	1482.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.315;DP=1447;ExcessHet=1.5895;FS=10.624;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=57.63;MQRankSum=-10.92;QD=2.32;ReadPosRankSum=-0.008;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,30:129:99:.:.:357,0,2613:.	6	0	4	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.35	2550.97	236	chr6	31355425	.	T	C	2550.97	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.577;DP=1787;ExcessHet=7.0302;FS=23.246;InbreedingCoeff=-0.5388;MLEAC=7;MLEAF=0.35;MQ=57.89;MQRankSum=-12.93;QD=1.95;ReadPosRankSum=-0.449;SOR=1.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:132,25:157:99:.:.:321,0,3925:.	3	0	7	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1867.08	18	chr6	31356716	.	CA	*	1867.08	.	AC=11;AF=0.55;AN=20;DP=445;ExcessHet=1.4371;FS=12.356;InbreedingCoeff=-0.0989;MLEAC=11;MLEAF=0.55;MQ=52.65;QD=4.56;SOR=1.441	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,44:44:99:1|1:31356711_C_CGGAG:1980,132,0:31356711	2	3	5	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1822.08	18	chr6	31356719	.	GT	*	1822.08	.	AC=11;AF=0.55;AN=20;DP=448;ExcessHet=1.4371;FS=12.366;InbreedingCoeff=-0.0989;MLEAC=11;MLEAF=0.55;MQ=52.46;QD=4.42;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,44:44:99:1|1:31356711_C_CGGAG:1980,132,0:31356711	2	3	5	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	4775.72	32	chr6	31356748	.	CCT	*	4775.72	.	AC=12;AF=0.6;AN=20;BaseQRankSum=4.05;DP=659;ExcessHet=0;FS=8.576;InbreedingCoeff=-0.0526;MLEAC=12;MLEAF=0.6;MQ=54.11;MQRankSum=-8.251;QD=7.29;ReadPosRankSum=-1.343;SOR=1.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,37:53:99:0|1:31356746_T_C:2225,672,560:31356746	3	5	2	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	7688.91	119	chr6	31356827	.	T	*	7688.91	.	AC=14;AF=0.7;AN=20;DP=1309;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=14;MLEAF=0.7;MQ=53.95;QD=6.02;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,105:105:99:1|1:31356809_C_T:4702,316,0:31356809	1	5	4	0
chr6	31410618	31410618	T	G	exonic	MICA	.	nonsynonymous SNV	MICA:NM_000247:exon2:c.T146G:p.V49G,MICA:NM_001177519:exon2:c.T146G:p.V49G	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0057	0.00698882	0.0022	0.0205	0.0004	0.0007	0.0012	0.0006	0.0011	0.0002	0.0020763	321	154602	rs17200158	0.0008	0.0008	0.0009	0.0007	0.0191	0.0008	0.0008	0.0178	0.0174	0.0191	0.0008	7.653e-05	0.0002	0.0013	0.0016	0.0003	0.0012	0.0001	0.0056	0.0056	0.0055	0.0056	0.0182	0.0052	0.0051	0.0172	0.0167	0.0182	0	0.0020	0	0.0002	0.0007	0.0068	0.0006	0.0057	0	1.0	0.35918	T	1.0	0.01155	T	0.012	0.16265	B	0.009	0.14300	B	0.665040	0.10393	N	0.771090	1	0.19363	N	.	.	.	6.75	0.00493	T	5.71	0.00019	N	0.148	0.15046	-0.9847	0.33903	T	0.000	0.00011	T	10	0.002904147	0.00047	T	.	.	.	0.078	0.22779	.	.	0.0297737177859	0.01360	0.5168620670879079	0.51609	0.140911219291	0.15895	0.341239184141	0.16623	T	0.018819	0.15105	T	-0.615122	0.00118	T	-0.64142	0.09565	T	0.00344233807832698	0.00036	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01668	B	.;.	.;.	-1.240388	0.00492	0.011	0.69367632553575986	0.08949	0.00043	0.00351	N	AEFDBI	0.024243	0.01470	N	-2.00030620287974	0.00211	0.009056648	-1.90259563111045	0.00484	0.02143707	0.96877145339347	0.29078	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.89	-2.26	0.06478	-0.378000	0.07503	.	.	-3.643000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2645:0.0:0.3426:0.3929	2.599	0.04565	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007667	0.005102	0.016304	0.000000	0.000000	0.008621	0.003086	0.000000	0.1	6585.14	176	chr6	31410618	.	T	G	6585.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.657;DP=1427;ExcessHet=0.2348;FS=0.521;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.19;MQRankSum=-5.864;QD=14.97;ReadPosRankSum=1.49;SOR=0.628	GT:AD:DP:GQ:PL	0/1:104,101:205:99:2333,0,2736	8	0	2	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	.	.	.	.	.	.	.	.	0.5	4335.04	114	chr6	31625601	.	T	C	4335.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.295;DP=1214;ExcessHet=22.563;FS=219.133;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.8;ReadPosRankSum=1.54;SOR=11.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,28:101:99:0|1:31625601_T_C:538,0,2264:31625601	0	0	10	0
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	.	.	.	.	.	.	.	.	0.5	5289.04	114	chr6	31625602	.	G	A	5289.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.245;DP=1213;ExcessHet=22.563;FS=261.515;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.64;ReadPosRankSum=1.66;SOR=10.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,28:101:99:0|1:31625601_T_C:538,0,2264:31625601	0	0	10	0
chr6	31637239	31637239	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon30:c.T6248C:p.F2083S,PRRC2A:NM_080686:exon30:c.T6248C:p.F2083S	.	411	1024	80	7	0	94	0.0438842	.	.	.	3221664	PRRC2A-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.107	.	0.0060	0.00838658	0.0105	0.0066	0.0089	0.0014	0.0014	0.0098	0.0149	0.0250	0.0100128	1548	154602	rs35595439	0.0099	0.0099	0.0093	0.0105	0.0980	0.0098	0.0097	0.0913	0.0886	0.0064	0.0100	0.0241	0.0009	0.0009	0.0980	0.0087	0.0136	0.0245	0.0085	0.0085	0.0084	0.0086	0.0176	0.0081	0.0079	0.0146	0.0135	0.0064	0	0.0119	0.0236	0.0023	0.0007	0.0782	0.0087	0.0203	0.0176	0.009	0.57480	D	0.037	0.51737	D	0.99	0.63424	D	0.676	0.53321	P	0.037848	0.24353	N	0.374635	0.994293	0.42229	D	0.805	0.20218	L	4.59	0.01885	T	-0.02	0.07299	N	0.684	0.69037	-0.6465	0.62866	T	0.006	0.01907	T	10	0.0058432817	0.00130	T	.	.	.	0.107	0.30369	.	.	.	.	0.36497003574382164	0.36411	0.278578728581	0.30341	0.594195008278	0.52086	T	0.006049	0.05488	T	-0.447984	0.01161	T	-0.39735	0.33694	T	0.0174964733769842	0.00485	T	0.727827	0.34232	T	0.15795542	0.35562	0.16183853	0.37623	0.15795542	0.35562	0.16183853	0.37622	-1.277	0.01365	T	.	.	0.381	0.58464	A	.;.	.;.	3.781721	0.54376	23.5	0.98768474912641135	0.45924	0.93029	0.57147	D	AEFDBHCI	0.674946	0.64050	D	0.358168924707542	0.59173	4.094471	0.416011924713983	0.62563	4.473676	0.99999993239348	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.63	5.63	0.86108	2.432000	0.44442	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.531000	0.29730	0.0:0.0:0.0:1.0	13.654	0.61799	884	0.28482	.;.	STK19|STK19B|LY6G5B|STK19B|TNXA|STK19B|STK19B|STK19|STK19B|LY6G5B|LY6G5C|STK19B|STK19B|LY6G5B|STK19B|POU5F1|STK19B|MPIG6B|STK19|STK19B|POU5F1|STK19B|LY6G5B|STK19B|LY6G5B|LY6G5B|STK19|LST1|PRRC2A|LY6G5B|STK19|STK19B|STK19|STK19B|STK19B|STK19B|NELFE|LY6G5B|LY6G5C|STK19|STK19B|C4B|CYP21A2|AIF1|LY6G5C|STK19B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|MSH5	Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis	rs115912333	Likely benign	0	0	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	0.059368	0.116162	0.059783	0.127660	0.200000	0.077586	0.012195	0.030303	0.1	4824.14	38	chr6	31637239	.	T	C	4824.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.7;DP=861;ExcessHet=0.2348;FS=1.733;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.732;SOR=0.821	GT:AD:DP:GQ:PL	0/1:104,93:197:99:2161,0,2610	8	0	2	0
chr6	31710176	31710176	G	A	exonic	LY6G6F;LY6G6F-LY6G6D	.	nonsynonymous SNV	LY6G6F:NM_001003693:exon4:c.G797A:p.G266D,LY6G6F-LY6G6D:NM_001353334:exon4:c.G797A:p.G266D	.	423	1017	75	7	0	89	0.0419218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0060	0.00838658	0.0106	0.0071	0.0094	0.0014	0.0014	0.0098	0.0139	0.0253	0.0101422	1568	154602	rs61740977	0.0100	0.0100	0.0094	0.0106	0.0983	0.0099	0.0098	0.0916	0.0889	0.0066	0.0103	0.0241	0.0009	0.0009	0.0983	0.0087	0.0136	0.0245	0.0086	0.0086	0.0085	0.0087	0.0176	0.0082	0.0080	0.0146	0.0135	0.0066	0	0.0119	0.0236	0.0023	0.0007	0.0748	0.0088	0.0213	0.0176	0.792	0.18061	T	0.67	0.06305	T	0.0	0.02946	B	0.001	0.04355	B	0.940953	0.08354	N	0.971401	1	0.08975	N	1.385	0.34509	L	2.36	0.16089	T	-0.77	0.26200	N	0.134	0.13055	-0.9108	0.46756	T	0.005	0.01725	T	10	0.0036507547	0.00067	T	.	.	.	0.024	0.04979	.	.	.	.	0.17638048354673985	0.17557	0.0973658497453	0.21457	0.23227712512	0.02141	T	0.002959	0.02360	T	-0.691932	0.00041	T	-0.747765	0.03574	T	0.00386979524127015	0.00041	T	0.379462	0.09138	T	0.04546819	0.07448	0.08063304	0.18256	0.04546819	0.07448	0.08063304	0.18256	-4.892	0.35645	T	.	.	0.107	0.19958	B	.;.	.;.	0.522969	0.08917	5.698	0.70296732587708188	0.09250	0.01871	0.05765	N	AEFGBI	0.059164	0.11153	N	-1.55622397157654	0.01499	0.06542969	-1.50119969325627	0.02335	0.1072508	0.999911762167869	0.45857	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.25	-0.08	0.13042	0.206000	0.17174	.	.	-0.179000	0.10443	0.009000	0.18154	0.010000	0.20010	0.146000	0.20164	0.353:0.0:0.5128:0.1342	5.858	0.17980	889	0.27310	.;.	STK19|STK19B|LY6G5B|STK19B|TNXA|STK19B|STK19B|STK19|STK19B|LY6G5B|LY6G5C|STK19B|STK19B|LY6G5B|STK19B|POU5F1|STK19B|MPIG6B|STK19|STK19B|POU5F1|STK19B|LY6G5B|STK19B|LY6G5B|LY6G5B|STK19|LST1|PRRC2A|LY6G5B|STK19|STK19B|STK19|STK19B|STK19B|STK19B|NELFE|LY6G5B|LY6G5C|STK19|STK19B|C4B|CYP21A2|AIF1|LY6G5C|STK19B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|MSH5	Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis	rs116179487	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.059368	0.126263	0.057065	0.127660	0.200000	0.078947	0.012195	0.030303	0.1	1493.14	33	chr6	31710176	.	G	A	1493.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.804;DP=420;ExcessHet=0.2348;FS=4.021;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.079;SOR=1.043	GT:AD:DP:GQ:PL	0/1:42,27:69:99:697,0,1060	8	0	2	0
chr6	31946403	31946403	G	C	exonic	CFB	.	nonsynonymous SNV	CFB:NM_001710:exon2:c.G95C:p.R32P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.0511046171758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.362e-06	2.752e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.33418	T	0.113	0.36901	T	0.431	0.35606	B	0.076	0.28435	B	0.088946	0.02434	N	1.901760	1	0.08975	N	0.55	0.14455	N	-1.56	0.81815	D	0.21	0.30555	N	0.193	0.26717	-0.5587	0.66453	T	0.175	0.51816	T	10	0.29439914	0.47012	T	0.051105	0.64522	D	0.288	0.60691	0.614	0.74768	0.158396225186	0.15383	0.7215457721781202	0.72098	0.784736392748	0.65455	0.193452969193	0.00292	T	0.032367	0.22457	T	-0.0485548	0.44668	T	-0.307522	0.43924	T	0.414798587560654	0.29497	T	0.530047	0.17735	T	0.08692973	0.20224	0.09009692	0.21108	0.08692973	0.20224	0.09009692	0.21108	-3.713	0.19510	T	.	.	0.110	0.21049	B	.;.;.	.;.;.	-0.713610	0.01289	0.069	0.52000827089374047	0.04666	0.10728	0.16151	N	AEFGBHCI	0.874072	0.79676	D	-2.0034729368058	0.00208	0.008912172	-2.17750528054978	0.00126	0.005526676	0.999999999998264	0.74766	0.559995	0.30671	0	0.547309	0.14657	0	0.578056	0.29568	0	0.550183	0.17644	0	.	.	5.01	-10.0	0.00350	-2.311000	0.01209	.	.	-2.731000	0.00202	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3542:0.0931:0.5527:0.0	12.018	0.52617	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	.	.	.	.	.	.	.	.	0.05	3959.16	33	chr6	31946403	.	G	C	3959.16	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.14;DP=498;ExcessHet=0.2348;FS=3.851;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.41;ReadPosRankSum=0.287;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,72:124:99:0|1:31946402_C_T:2855,0,1886:31946402	9	0	1	0
chr6	32042010	32042010	A	G	splicing	TNXB	NM_001365276:exon42:c.12469+2T>C;NM_019105:exon42:c.12463+2T>C;NM_032470:exon11:c.1756+2T>C	.	.	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	649	852	18	3	0	24	0.0138889	0.9639	0.64	.	443945	not_provided|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency|TNXB-related_disorder	MedGen:C3661900|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1082	0	0.5	0	.	0.0645	.	0.1404	0.0011142	29	26028	rs545719209	0.0111	0.0085	0.0100	0.0121	0.0515	0.0108	0.0107	0.0437	0.0407	0.0055	0.0098	0.0238	0.0005	0.0011	0.0515	0.0102	0.0132	0.0240	0.0106	0.0069	0.0103	0.0111	0.0192	0.0100	0.0097	0.0143	0.0126	0.0048	0	0.0147	0.0314	0.0027	0.0012	0.0802	0.0123	0.0272	0.0192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.111952	0.34447	T	0.085336	0.75934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	3.922929	0.57282	23.8	0.99383401819633854	0.61979	0.98625	0.84843	D	AEFGI	.	.	.	0.968673653607969	0.94697	12.96467	0.764717257158417	0.87252	9.158453	0.999974908037553	0.50053	0.164513	0.03853	0	0.195528	0.04277	0	0.083675	0.02720	0	0.062806	0.01542	0	0.857618	0.52466	4.66	4.66	0.57857	4.342000	0.59122	.	.	0.749000	0.86810	1.000000	0.71638	1.000000	0.68203	0.312000	0.24784	1.0:0.0:0.0:0.0	13.272	0.59600	923	0.18507	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	92.3	6	chr6	32042010	.	A	G	92.3	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.83;DP=49;ExcessHet=0;FS=0;InbreedingCoeff=-0.1085;MLEAC=1;MLEAF=0.05;MQ=26.1;MQRankSum=-0.431;QD=15.38;ReadPosRankSum=0.842;SOR=0.368	GT:AD:DP:GQ:PL	0/1:2,4:6:45:103,0,45	9	0	1	0
chr6	32085951	32085951	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon7:c.G2947A:p.A983T,TNXB:NM_019105:exon7:c.G2947A:p.A983T	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	1176763	not_provided|not_specified|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN169374|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.142	0.00679864150355	.	0.00119808	0.0003	0.0012	0.0003	0.0002	0	0.0002	0	6.151e-05	0.0002393	37	154602	rs138850364	0.0001	0.0001	0.0001	0.0001	0.0015	0.0001	0.0001	0.0011	0.0010	0.0015	0.0004	0	0.0001	0	0.0013	5.942e-05	0.0005	0.0001	0.0004	0.0004	0.0003	0.0004	0.0010	0.0003	0.0003	0.0007	0.0006	0.0010	0	0.0005	0	0.0002	0	0	0.0001	0	0.0002	0.095	0.31235	T	0.002	0.79402	D	.	.	.	.	.	.	0.067244	0.21754	N	0.331049	0.997793	0.22503	N	.	.	.	3.53	0.04852	T	-2.05	0.47008	N	0.439	0.47765	-0.9777	0.35526	T	0.013	0.05033	T	10	0.029506356	0.01077	T	0.006799	0.17982	T	0.142	0.37995	.	.	0.326837869879	0.32287	.	.	.	.	0.46544033289	0.34055	T	0.058	0.30584	T	-0.409222	0.02012	T	-0.395974	0.33852	T	0.0279979757428674	0.01689	T	0.831417	0.50212	T	0.076745726	0.17375	0.095823854	0.22741	0.076745726	0.17375	0.095823854	0.22741	-7.706	0.59049	D	0.1295482642614728	0.13542	0.211	0.44397	B	.;.;.;.	.;.;.;.	4.968399	0.82200	27.7	0.99917281398028612	0.98518	0.63096	0.31983	D	AEFDBHCI	0.290187	0.40164	N	0.190692091223209	0.50753	3.262324	0.146154372193557	0.46938	2.931794	0.999999998291978	0.74766	0.653496	0.48692	0	0.480063	0.06835	0	0.596874	0.31795	0	0.542086	0.14980	0	.	.	3.89	2.99	0.33673	0.944000	0.28641	.	.	0.549000	0.26987	0.550000	0.27346	1.000000	0.68203	0.977000	0.56843	0.2336:0.7664:0.0:0.0	8.409	0.31795	911	0.21964	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002179	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1463.43	33	chr6	32085951	.	C	T	1463.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.359;DP=415;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-1.609;SOR=0.674	GT:AD:DP:GQ:PL	0/1:40,58:98:99:1475,0,875	9	0	1	0
chr6	32097234	32097234	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon3:c.G619A:p.G207S,TNXB:NM_019105:exon3:c.G619A:p.G207S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1183818	not_provided|not_specified|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN169374|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.348	0.0287910162191	0.0002	0.000998403	0.0003	0.0021	0.0006	0	0	0.0002	0	8.255e-05	0.000194	30	154602	rs139154852	0.0001	0.0001	9.989e-05	0.0001	0.0015	0.0001	9.475e-05	0.0012	0.0011	0.0015	0.0004	0	0	0	0.0012	4.964e-05	0.0005	8.245e-05	0.0003	0.0003	0.0003	0.0004	0.0009	0.0003	0.0002	0.0007	0.0006	0.0009	0	0.0005	0	0	0	0	7.35e-05	0	0.0002	0.0	0.91255	D	0.004	0.74150	D	.	.	.	.	.	.	0.000256	0.46924	D	0.000000	0.931363	0.36987	D	.	.	.	1.81	0.25182	T	-3.72	0.83157	D	0.794	0.79022	-0.8296	0.53327	T	0.126	0.43153	T	10	0.04814756	0.04227	T	0.028791	0.51409	D	0.348	0.66956	.	.	0.290620346082	0.28682	.	.	.	.	0.787975132465	0.80134	T	0.608673	0.87565	D	-0.325724	0.06440	T	-0.276034	0.47209	T	0.150018151207238	0.17105	T	0.959904	0.95103	D	0.70878536	0.78541	0.6916491	0.81853	0.70878536	0.78542	0.6916491	0.81854	-9.442	0.70498	D	0.12519815763166522	0.12409	0.251	0.48572	B	.;.;.;.;.	.;.;.;.;.	4.910603	0.80791	27.4	0.99846236074516526	0.92576	0.90955	0.52579	D	AEFDBCI	0.544673	0.55950	D	0.617521472281769	0.74282	6.106342	0.491594154635276	0.67432	5.083223	0.999999382332169	0.74766	0.62174	0.39705	0	0.541168	0.11318	0	0.491614	0.08109	1	0.542086	0.14980	0	.	.	4.22	3.33	0.37245	5.619000	0.67408	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.704000	0.34264	0.173:0.827:0.0:0.0	12.156	0.53384	906	0.23090	EGF-like domain, extracellular|EGF-like domain;.;EGF-like domain, extracellular|EGF-like domain;EGF-like domain, extracellular|EGF-like domain;EGF-like domain, extracellular|EGF-like 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	0.002179	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2315.43	34	chr6	32097234	.	C	T	2315.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=542;ExcessHet=0;FS=0.591;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=2.28;SOR=0.793	GT:AD:DP:GQ:PL	0/1:70,90:160:99:2327,0,1573	9	0	1	0
chr6	32443853	32443853	C	G	exonic	HLA-DRA	.	nonsynonymous SNV	HLA-DRA:NM_019111:exon4:c.C708G:p.I236M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00553422629597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0019	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0.0002	2.251e-05	3.852e-05	5.054e-05	0	0.0002	0.0002	0.0001	4.682e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.049	0.48336	D	0.868	0.47740	P	0.534	0.48679	P	0.022538	0.26616	N	0.440036	1	0.08975	N	.	.	.	4.52	0.01997	T	-1.48	0.38151	N	0.272	0.36148	-0.9512	0.40765	T	0.006	0.02168	T	10	0.18965468	0.34574	T	0.005534	0.14258	T	0.031	0.07369	0.423	0.46693	0.285775778912	0.28195	0.40217806261540645	0.40133	0.978554424983	0.73646	0.351977914572	0.18212	T	0.017956	0.14556	T	-0.187692	0.22597	T	-0.507383	0.21586	T	0.568630933761597	0.35182	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.37727	B	.;.	.;.	2.465798	0.31770	18.84	0.99386995428342506	0.62157	0.11209	0.16481	N	AEFGBHCI	0.629542	0.61122	D	-0.253195381785185	0.30976	1.732382	-0.431463029269619	0.24079	1.316614	0.999998429225293	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.36	1.51	0.22094	1.124000	0.30934	.	.	0.539000	0.25131	0.280000	0.25141	0.000000	0.08366	0.356000	0.25796	0.0:0.5975:0.1492:0.2533	5.216	0.14664	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	103.43	127	chr6	32443853	.	C	G	103.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.755;DP=1520;ExcessHet=0;FS=328.64;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=2.26;SOR=9.383	GT:AD:DP:GQ:PL	0/1:138,46:184:99:115,0,2800	9	0	1	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3419.5	287	chr6	32521970	.	G	*	3419.5	.	AC=4;AF=0.2;AN=20;BaseQRankSum=4.23;DP=2130;ExcessHet=7.0302;FS=3.886;InbreedingCoeff=-0.5385;MLEAC=4;MLEAF=0.2;MQ=55.93;MQRankSum=-7.81;QD=1.83;ReadPosRankSum=-7.2;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,50:114:99:0|1:32521957_G_A:1907,0,2537:32521957	6	0	4	0
chr6	32521977	32521978	TG	0	exonic	HLA-DRB5	.	.	.	.	68	790	259	133	272	797	0.249406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	17791.4	272	chr6	32521977	.	TG	*	17791.4	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.34;DP=1990;ExcessHet=0.3701;FS=16.441;InbreedingCoeff=0.1667;MLEAC=2;MLEAF=0.1;MQ=51.31;MQRankSum=-2.903;QD=14.88;ReadPosRankSum=-0.428;SOR=1.168	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,51:92:99:0|1:32521957_G_A:3710,1638,1526:32521957	8	0	2	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	7726.93	271	chr6	32521978	.	GT	*	7726.93	.	AC=7;AF=0.35;AN=20;BaseQRankSum=5.95;DP=2005;ExcessHet=7.0302;FS=9.754;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=54.56;MQRankSum=-6.638;QD=4.12;ReadPosRankSum=-4.747;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,51:92:99:1|1:32521957_G_A:2184,112,0:32521957	5	2	3	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	5657.87	185	chr6	32584171	.	G	*	5657.87	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.372;DP=1605;ExcessHet=0.3701;FS=1.544;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=50.25;MQRankSum=4.49;QD=5.63;ReadPosRankSum=5.41;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,94:189:99:0|1:32584151_G_A:3724,0,1985:32584151	5	1	4	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	2923.01	196	chr6	32584178	.	G	*	2923.01	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.57;DP=1798;ExcessHet=0.3131;FS=0;InbreedingCoeff=0.2;MLEAC=9;MLEAF=0.45;MQ=55.21;MQRankSum=-7.546;QD=2.67;ReadPosRankSum=-1.041;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,99:206:99:0|1:32584162_G_T:3811,0,2296:32584162	4	3	3	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	26425.4	342	chr6	32584370	.	G	*	26425.4	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.65;DP=2365;ExcessHet=0.2065;FS=9.525;InbreedingCoeff=0.2;MLEAC=7;MLEAF=0.35;MQ=54.75;MQRankSum=-13.78;QD=11.54;ReadPosRankSum=-2.424;SOR=1.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,62:118:99:.:.:5225,2369,2165:.	3	0	7	0
chr6	32589684	32589684	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.T59C:p.M20T	.	1	1193	328	0	0	328	0.120855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	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	0.016507	0.035354	0.010870	0.034188	0.050000	0.000000	0.021341	0.007576	0.1	3008.14	164	chr6	32589684	.	A	G	3008.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.962;DP=1899;ExcessHet=0.2348;FS=0.674;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=48.1;MQRankSum=-0.036;QD=5.54;ReadPosRankSum=1.15;SOR=0.828	GT:AD:DP:GQ:PL	0/1:172,37:209:99:1036,0,7086	8	0	2	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3665.7	286	chr6	32641444	.	G	*	3665.7	.	AC=8;AF=0.4;AN=20;DP=1693;ExcessHet=0.0657;FS=16.269;InbreedingCoeff=0.3939;MLEAC=8;MLEAF=0.4;MQ=54.37;QD=3.34;SOR=1.06	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,78:121:99:0|1:32641436_G_A:5081,1806,1571:32641436	4	2	4	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3623.7	286	chr6	32641445	.	A	*	3623.7	.	AC=8;AF=0.4;AN=20;DP=1691;ExcessHet=0.0657;FS=16.269;InbreedingCoeff=0.3939;MLEAC=8;MLEAF=0.4;MQ=54.52;QD=3.31;SOR=1.05	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,77:120:99:0|1:32641436_G_A:5039,1806,1574:32641436	4	2	4	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3985.28	312	chr6	32641462	.	G	*	3985.28	.	AC=7;AF=0.35;AN=20;DP=1723;ExcessHet=0.0059;FS=7.005;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=56.07;QD=4.28;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,73:118:99:0|1:32641436_G_A:5225,1907,1670:32641436	5	2	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3985.28	312	chr6	32641464	.	T	*	3985.28	.	AC=7;AF=0.35;AN=20;DP=1725;ExcessHet=0.0059;FS=7.005;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=56.12;QD=4.28;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,73:118:99:0|1:32641436_G_A:5270,1910,1670:32641436	5	2	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	7913.28	297	chr6	32641501	.	G	*	7913.28	.	AC=7;AF=0.35;AN=20;DP=1762;ExcessHet=0.0059;FS=1.741;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=58.11;QD=8.07;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,57:135:99:0|1:32641501_G_*:5759,3282,3104:32641501	5	2	3	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	7853.28	315	chr6	32641522	.	A	*	7853.28	.	AC=7;AF=0.35;AN=20;DP=1846;ExcessHet=0.0059;FS=0.525;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=58.47;QD=7.54;SOR=0.78	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,49:143:99:0|1:32641501_G_*:6626,3996,3793:32641501	5	2	3	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	7853.28	315	chr6	32641522	.	A	G	7853.28	.	AC=3;AF=0.15;AN=20;DP=1846;ExcessHet=0.0059;FS=0.525;InbreedingCoeff=0.6;MLEAC=3;MLEAF=0.15;MQ=58.47;QD=7.54;SOR=0.78	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,94:143:99:0|1:32641501_G_*:6626,2112,1775:32641501	8	1	1	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	.	.	.	.	.	.	.	.	0.2	36210.8	168	chr6	32664917	.	C	A	36210.8	.	AC=4;AF=0.2;AN=20;BaseQRankSum=5.83;DP=2277;ExcessHet=0.0059;FS=2.897;InbreedingCoeff=0.6;MLEAC=4;MLEAF=0.2;MQ=59.06;MQRankSum=-1.713;QD=31.22;ReadPosRankSum=1.13;SOR=0.554	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,23:136:99:.:.:5756,4702,4620:.	6	0	4	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	.	.	.	.	.	.	.	.	0.2	3476.57	175	chr6	32664926	.	G	A	3476.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=7.2;DP=2299;ExcessHet=1.5895;FS=1.445;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.12;MQRankSum=-7.617;QD=5.29;ReadPosRankSum=-3.501;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,33:145:99:0|1:32664926_G_A:1049,0,4604:32664926	6	0	4	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	24716.5	74	chr6	32666525	.	A	*	24716.5	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.75;DP=862;ExcessHet=0.2348;FS=0.765;InbreedingCoeff=-0.1111;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=28.91;ReadPosRankSum=0.933;SOR=0.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,29:52:99:.:.:2229,902,803:.	7	1	2	0
chr6	33080902	33080902	G	C	exonic	HLA-DPB1	.	nonsynonymous SNV	HLA-DPB1:NM_002121:exon2:c.G331C:p.E111Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00394829978397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.16738	T	0.478	0.12281	T	1.0	0.90584	D	0.992	0.80445	D	0.475510	0.04950	U	1.321060	0.998977	0.21747	N	1.405	0.35469	L	8.39	0.00243	T	-0.54	0.16598	N	0.335	0.37613	-0.9219	0.45293	T	0.000	0.00152	T	10	0.12541875	0.23833	T	0.003948	0.09337	T	0.170	0.43303	0.309	0.28128	0.195762928549	0.19159	0.503837808281476	0.50305	1.80813242872	0.91769	0.263139605522	0.05270	T	0.012901	0.11259	T	-0.110923	0.34616	T	-0.397109	0.33722	T	0.280914122235491	0.24210	T	.	.	.	0.52690136	0.68654	0.12428027	0.29958	0.52690136	0.68655	0.12428027	0.29958	-6.018	0.46431	T	.	.	0.105	0.26200	B	.;.	.;.	1.564277	0.20031	14.56	0.98873389142757495	0.47684	0.14927	0.18657	N	AEFDBHCI	0.456775	0.50850	N	-0.134687139633227	0.35889	2.067201	-0.327595041475623	0.27210	1.508326	0.999999622598305	0.74766	0.789315	0.99827	0	0.672317	0.65289	0	0.768056	0.98339	0	0.372554	0.06265	0	.	.	3.7	2.82	0.32061	0.120000	0.15476	-5.432000	0.01720	0.605000	0.46263	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.1166:0.2102:0.6732:0.0	5.252	0.14845	856	0.34373	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	47.43	73	chr6	33080902	.	G	C	47.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.84;DP=537;ExcessHet=0;FS=10.981;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.82;MQRankSum=-7.319;QD=0.86;ReadPosRankSum=-1.115;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,5:55:59:0|1:33080860_G_A:59,0,2084:33080860	9	0	1	0
chr6	33202607	33202607	A	C	exonic	SLC39A7	.	nonsynonymous SNV	SLC39A7:NM_006979:exon5:c.A847C:p.T283P,SLC39A7:NM_001077516:exon6:c.A847C:p.T283P,SLC39A7:NM_001288777:exon6:c.A472C:p.T158P	.	420	1092	9	1	0	11	0.00501139	.	.	.	1630800	SLC39A7-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.046	0.0123859445039	0.0003	0.000199681	0.0009	0	0.0010	0.0001	0	0.0004	0.0012	0.0043	0.0007438	115	154602	rs200100279	0.0005	0.0005	0.0004	0.0006	0.0116	0.0005	0.0004	0.0094	0.0086	3.008e-05	0.0013	0.0002	0.0002	3.825e-05	0.0116	0.0001	0.0008	0.0043	0.0004	0.0004	0.0003	0.0005	0.0031	0.0003	0.0003	0.0019	0.0015	0	0	0.0011	0	0	0	0.0034	0.0003	0.0033	0.0031	0.152	0.24468	T	0.211	0.26631	T	0.291	0.32334	B	0.206	0.37138	B	0.390139	0.04472	N	1.504780	1	0.08975	N	0.74	0.18910	N	0.47	0.56114	T	-1.52	0.36980	N	0.081	0.06059	-1.0562	0.12724	T	0.037	0.15813	T	10	0.0029443204	0.00048	T	0.012386	0.30920	T	0.046	0.12618	.	.	0.181679512989	0.17746	0.3987670462340173	0.39791	0.585093526498	0.54164	0.29743885994	0.10020	T	0.01787	0.14505	T	-0.469437	0.00857	T	-0.447372	0.27988	T	0.00632671245989026	0.00070	T	.	.	.	0.17978448	0.39066	0.28065246	0.54042	0.17978448	0.39066	0.28065246	0.54041	-3.664	0.18788	T	.	.	0.075	0.05711	B	.;.;.	.;.;.	1.016342	0.13959	10.52	0.59485281858266892	0.06235	0.08472	0.14396	N	AEFBCI	0.453989	0.50689	N	-1.2713900618172	0.04024	0.1808677	-1.3106240286889	0.04292	0.2021316	0.999993637063277	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	4.63	-1.59	0.08003	0.220000	0.17445	1.666000	0.27927	-0.156000	0.11795	0.002000	0.15269	0.986000	0.30841	0.588000	0.31090	0.6173:0.0:0.3827:0.0	8.483	0.32212	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	1	0	0.004357	0.000000	0.004076	0.021277	0.050000	0.017544	0.000000	0.000000	0.1	2310.14	39	chr6	33202607	.	A	C	2310.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.995;DP=506;ExcessHet=0.2348;FS=2.499;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=1.73;SOR=0.847	GT:AD:DP:GQ:PL	0/1:56,42:98:99:1054,0,1668	8	0	2	0
chr6	33690049	33690049	G	A	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon51:c.G6883A:p.V2295M	.	424	1096	2	0	0	2	0.000911577	.	.	.	722002	not_provided|ITPR3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.766	0.268445494182	0.0035	0.00259585	0.0010	0.0089	0.0005	0	0.0002	0.0003	0.0011	0	0.0009638	149	154602	rs59525809	0.0004	0.0004	0.0004	0.0004	0.0106	0.0004	0.0003	0.0097	0.0094	0.0106	0.0007	0.0005	0	3.744e-05	0.0028	7.014e-05	0.0009	2.319e-05	0.0030	0.0030	0.0033	0.0026	0.0100	0.0027	0.0026	0.0092	0.0089	0.0100	0	0.0010	0.0003	0	0	0.0034	7.349e-05	0.0052	0.0002	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000096	0.51296	D	0.130517	1	0.81001	D	3.145	0.88303	M	-3.05	0.92407	D	-2.58	0.55662	D	0.727	0.74189	0.807	0.94500	D	0.823	0.94061	D	10	0.018000394	0.00388	T	0.268445	0.89785	D	0.766	0.92087	.	.	0.970440663564	0.97012	0.6641240563088786	0.66349	1.73859626385	0.90843	0.890464663506	0.95318	D	0.915869	0.98454	D	-0.126529	0.32058	T	0.0534358	0.73810	D	0.0689373478253002	0.08501	T	0.984602	0.94707	D	0.6027144	0.72837	0.37372777	0.62554	0.6027144	0.72838	0.37372777	0.62554	-7.954	0.60755	D	.	.	0.753	0.75187	P	.;.	.;.	5.478012	0.91348	32	0.99858077518465405	0.93639	0.93531	0.58471	D	AEFDBCI	0.700411	0.65744	D	0.77850399984074	0.84742	8.374078	0.759012517459619	0.86827	9.01638	0.999999964651361	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.4	5.4	0.77957	5.943000	0.69923	10.009000	0.83083	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0763:0.0:0.9237:0.0	12.522	0.55413	518	0.74548	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	0.001007	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	2025.43	37	chr6	33690049	.	G	A	2025.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.052;DP=480;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.551;SOR=0.684	GT:AD:DP:GQ:PL	0/1:76,87:163:99:2037,0,1613	9	0	1	0
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	139.65	56	chr6	34528878	.	G	C	139.65	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.21;DP=617;ExcessHet=2.8389;FS=196.238;InbreedingCoeff=-0.5972;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=2.19;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,15:61:24:.:.:24,0,742:.	1	0	4	5
chr6	36721308	36721308	C	-	exonic	RAB44	.	frameshift deletion	RAB44:NM_001257357:exon9:c.1174delC:p.P393Rfs*46	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1009120230	0.0012	0.0009	0.0012	0.0012	0.0014	0.0012	0.0012	0.0013	0.0013	0.0002	0.0004	0	3.77e-05	0.0005	0	0.0014	0.0009	0.0006	0.0007	0.0007	0.0006	0.0007	0.0012	0.0006	0.0005	0.0010	0.0009	0.0001	0	0.0002	0	0	0.0007	0	0.0012	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1557.1	49	chr6	36721307	.	GC	G	1557.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.289;DP=548;ExcessHet=0.2348;FS=4.818;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0.886;SOR=0.368	GT:AD:DP:GQ:PL	0/1:25,31:56:99:844,0,640	8	0	2	0
chr6	39900192	39900192	A	G	exonic	DAAM2	.	nonsynonymous SNV	DAAM2:NM_001201427:exon23:c.A2795G:p.N932S,DAAM2:NM_015345:exon23:c.A2792G:p.N931S	.	423	1076	21	2	0	25	0.0114837	.	.	.	3208721	DAAM2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0004	0.00199681	0.0029	0.0003	0.0010	0	0	0.0008	0.0031	0.0167	0.0019469	301	154602	rs201309255	0.0012	0.0012	0.0007	0.0016	0.0145	0.0011	0.0011	0.0138	0.0136	0	0.0013	0.0001	2.534e-05	0	0.0033	0.0003	0.0013	0.0145	0.0007	0.0007	0.0006	0.0008	0.0087	0.0006	0.0006	0.0066	0.0059	9.625e-05	0	0.0022	0	0	9.416e-05	0	0.0004	0.0005	0.0087	0.735	0.04379	T	0.855	0.03467	T	0.024	0.19075	B	0.089	0.29769	B	0.144841	0.18166	N	0.587856	0.999602	0.20887	N	0.085	0.08345	N	2.41	0.15492	T	-0.6	0.17834	N	0.164	0.22098	-0.9329	0.43710	T	0.006	0.01944	T	10	0.0056210756	0.00125	T	.	.	.	0.057	0.16321	.	.	0.389984549148	0.38611	0.09421232891520907	0.09353	0.117723410409	0.13256	0.307763725519	0.11569	T	0.021735	0.16878	T	-0.724177	0.00026	T	-0.80133	0.01869	T	0.00950425947968312	0.00123	T	0.772623	0.40374	T	0.042891417	0.06586	0.042034414	0.04915	0.042891417	0.06586	0.042034414	0.04914	-4.182	0.26635	T	.	.	0.053	0.00303	B	.;.;.;.	.;.;.;.	0.177617	0.05655	2.106	0.77087014610030602	0.11731	0.09415	0.15175	N	AEFBCI	0.225159	0.34928	N	-1.07852194424477	0.07040	0.3258706	-1.03611002257717	0.08999	0.4453272	0.993814777994016	0.33367	0.660377	0.49826	0	0.563428	0.19063	0	0.696353	0.63694	0	0.586402	0.36253	0	.	.	5.11	-2.07	0.06873	-0.183000	0.09707	-0.473000	0.08966	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.436:0.3708:0.1932:0.0	5.924	0.18337	777	0.48198	Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;.;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 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	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.1	1545.14	33	chr6	39900192	.	A	G	1545.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.16;DP=402;ExcessHet=0.2348;FS=1.496;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.276;SOR=0.848	GT:AD:DP:GQ:PL	0/1:21,34:55:99:849,0,491	8	0	2	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F,SLC29A1:NM_001304466:exon3:c.C121T:p.L41F,SLC29A1:NM_001372327:exon3:c.C46T:p.L16F,SLC29A1:NM_001078175:exon4:c.C46T:p.L16F,SLC29A1:NM_001078177:exon4:c.C46T:p.L16F,SLC29A1:NM_001304462:exon4:c.C283T:p.L95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	847.28	87	chr6	44229406	.	C	T	847.28	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-3.766;DP=1080;ExcessHet=4.5998;FS=191.883;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=0.722;SOR=10.911	GT:AD:DP:GQ:PL	0/1:85,49:134:99:230,0,1455	1	0	6	3
chr6	52050187	52050187	C	T	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon22:c.G2249A:p.C750Y,PKHD1:NM_170724:exon22:c.G2249A:p.C750Y	Polycystic kidney and hepatic disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3572747	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.857	0.543639638292	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	2.723e-06	2.75e-06	0.0003	6.4e-07	4.3e-07	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.991026	0.41290	D	2.945	0.84822	M	-3.62	0.95826	D	-9.33	0.98380	D	0.903	0.91852	1.056	0.98243	D	0.927	0.97587	D	10	0.988095	0.99209	D	0.54364	0.95762	D	0.857	0.95618	0.808	0.92512	0.992756816704	0.99267	0.8491856071868055	0.84880	0.480844793395	0.47095	0.461131393909	0.33465	T	0.840969	0.96291	D	0.498611	0.94254	D	0.478443	0.94177	D	0.999687910079956	0.98483	D	0.79532	0.43818	T	0.95990324	0.97270	0.9210192	0.96470	0.95990324	0.97270	0.9210192	0.96470	-3.147	0.11843	T	0.901205412980846	0.95260	0.537	0.66208	A	.;.	.;.	4.235453	0.64170	24.7	0.9973061761065104	0.82761	0.69644	0.34270	D	AEFBCI	0.835788	0.75364	D	0.772340034803587	0.84350	8.263278	0.714733838590211	0.83495	8.03721	0.999999902193635	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.491513	0.07944	0	0.584449	0.35598	0	.	.	5.64	5.64	0.86480	4.888000	0.62855	7.655000	0.63911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.326000	0.25110	0.0:1.0:0.0:0.0	18.705	0.91595	829	0.39537	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	2629.12	41	chr6	52050187	.	C	T	2629.12	.	AC=2;AF=0.1;AN=20;DP=450;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.88;SOR=1.055	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2652,264,0	9	1	0	0
chr6	52403967	52403967	A	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.A754G:p.I252V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00527960526329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978e-05	0.0024	1.833e-05	2.124e-05	2.524e-05	1.372e-05	1.181e-05	1.728e-05	1.481e-05	0	2.239e-05	0	0	0	0	2.524e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.041	0.23986	B	0.000025	0.55875	D	0.115163	0.999832	0.49637	D	.	.	.	1.69	0.27032	T	0.18	0.05035	N	0.134	0.13055	-1.0252	0.22017	T	0.018	0.07518	T	9	0.10744271	0.19958	T	0.00528	0.13494	T	0.060	0.17295	0.488	0.57257	0.376393476264	0.37247	0.3401186203858187	0.33924	0.3389385424	0.35853	0.68097782135	0.64409	T	0.052677	0.29229	T	-0.214048	0.18812	T	-0.545242	0.17786	T	0.904308378696442	0.55774	D	0.813919	0.46746	T	0.07455341	0.16739	0.0980514	0.23362	0.07455341	0.16739	0.0980514	0.23362	-3.487	0.16251	T	.	.	0.198	0.42111	B	.;.	.;.	2.178607	0.27765	17.57	0.81419057112976168	0.13676	0.59864	0.31033	D	ALL	0.196894	0.32384	N	-0.163518393347399	0.34660	1.981109	0.0656923634619325	0.42836	2.598076	0.999999999628226	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	4.094000	0.57448	11.121000	0.86550	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.038	0.71424	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	568.29	157	chr6	52403967	.	A	G	568.29	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-3.479;DP=1388;ExcessHet=0.7463;FS=107.752;InbreedingCoeff=-0.2121;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.31;SOR=8.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,26:186:81:0|1:52403967_A_G:81,0,6069:52403967	6	0	3	1
chr6	52403969	52403969	C	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C756G:p.I252M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00775913706174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.151e-05	0.0026	3.041e-05	1.254e-05	6.052e-05	1.542e-05	1.343e-05	1.691e-05	1.449e-05	6.052e-05	0	0	0	0	0	2.47e-05	1.675e-05	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.13	0.34716	T	0.118	0.26577	B	0.14	0.33554	B	0.000025	0.55875	D	0.115163	0.892936	0.35993	D	.	.	.	1.55	0.29866	T	-1.48	0.36189	N	0.283	0.32037	-1.0538	0.13359	T	0.020	0.08593	T	9	0.124320894	0.23611	T	0.007759	0.20589	T	0.170	0.43303	0.517	0.61763	0.267299060538	0.26338	0.586538640297082	0.58583	0.48057550277	0.47073	0.721015810966	0.70195	T	0.080878	0.36467	T	-0.0535672	0.43903	T	-0.314722	0.43150	T	0.235945180058479	0.22232	T	0.821218	0.48050	T	0.14476812	0.33215	0.13295785	0.31893	0.14476812	0.33214	0.13295785	0.31892	-5.366	0.40591	T	.	.	0.261	0.50025	B	.;.	.;.	1.402312	0.18166	13.58	0.96333446261906064	0.29456	0.11428	0.16627	N	ALL	0.097766	0.19713	N	-0.570544328712899	0.19843	1.041757	-0.512454945959116	0.21814	1.181902	0.999999914802843	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.195	0.14431	-0.473000	0.06694	0.906000	0.22588	0.599000	0.40250	0.215000	0.24480	0.988000	0.31051	0.998000	0.85391	0.1925:0.4175:0.0:0.3899	5.139	0.14281	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	64.43	41	chr6	52403969	.	C	G	64.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.659;DP=841;ExcessHet=0;FS=110.202;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=1.42;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,26:188:76:0|1:52403967_A_G:76,0,6083:52403967	9	0	1	0
chr6	52403970	52403970	C	T	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C757T:p.L253F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00630749574742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.19361	T	0.098	0.39040	T	0.002	0.09854	B	0.03	0.21741	B	0.156625	0.17794	N	0.568363	0.978788	0.25225	N	.	.	.	1.35	0.34648	T	-1.54	0.37375	N	0.043	0.01740	-0.9995	0.30058	T	0.022	0.09421	T	9	0.07588753	0.11786	T	0.006307	0.16580	T	0.056	0.15993	0.404	0.43573	0.258283824007	0.25425	0.4649470711667506	0.46413	0.41020588675	0.41812	0.385233283043	0.22995	T	0.083781	0.37132	T	-0.242974	0.14973	T	-0.586792	0.13944	T	0.131729736924171	0.15541	T	0.726327	0.34071	T	0.0702468	0.15457	0.08061282	0.18250	0.0702468	0.15456	0.08061282	0.18250	-4.121	0.25599	T	.	.	0.102	0.17911	B	.;.	.;.	1.645479	0.20997	15.00	0.98230747167124433	0.39387	0.23460	0.22083	N	ALL	0.166227	0.29279	N	-0.569512802825605	0.19875	1.043656	-0.505190822221499	0.22012	1.193515	0.999999888871553	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.156	0.14205	0.857000	0.27486	0.414000	0.18144	0.599000	0.40250	0.560000	0.27425	0.980000	0.30356	0.998000	0.85391	0.207:0.4109:0.2345:0.1476	2.509	0.04369	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	64.43	41	chr6	52403970	.	C	T	64.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.22;DP=842;ExcessHet=0;FS=110.202;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=1.45;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,26:188:76:0|1:52403967_A_G:76,0,6083:52403967	9	0	1	0
chr6	70526542	70526542	T	G	exonic	FAM135A	.	nonsynonymous SNV	FAM135A:NM_001331000:exon13:c.T2771G:p.L924W,FAM135A:NM_001331005:exon13:c.T3359G:p.L1120W,FAM135A:NM_001330997:exon14:c.T2870G:p.L957W,FAM135A:NM_001331001:exon14:c.T2870G:p.L957W,FAM135A:NM_001331004:exon14:c.T2183G:p.L728W,FAM135A:NM_001351600:exon14:c.T3458G:p.L1153W,FAM135A:NM_020819:exon14:c.T2819G:p.L940W,FAM135A:NM_001105531:exon15:c.T2870G:p.L957W,FAM135A:NM_001162529:exon15:c.T3458G:p.L1153W,FAM135A:NM_001330996:exon15:c.T3536G:p.L1179W,FAM135A:NM_001331002:exon15:c.T2870G:p.L957W,FAM135A:NM_001351599:exon15:c.T3536G:p.L1179W,FAM135A:NM_001351602:exon15:c.T3458G:p.L1153W,FAM135A:NM_001351608:exon15:c.T2612G:p.L871W,FAM135A:NM_001330995:exon16:c.T2198G:p.L733W,FAM135A:NM_001330998:exon16:c.T2948G:p.L983W,FAM135A:NM_001330999:exon16:c.T3536G:p.L1179W,FAM135A:NM_001331003:exon16:c.T2948G:p.L983W,FAM135A:NM_001351607:exon16:c.T3458G:p.L1153W,FAM135A:NM_001331006:exon17:c.T2276G:p.L759W,FAM135A:NM_001351609:exon17:c.T2018G:p.L673W	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.0241748974734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.999	0.90584	D	0.983	0.92359	D	0.000342	0.45440	D	0.091944	0.92348	0.36748	D	2.295	0.65404	M	1.71	0.33412	T	-4.22	0.77391	D	0.797	0.87481	-0.9024	0.47739	T	0.128	0.43544	T	10	0.78712714	0.78343	D	0.024175	0.47165	T	0.356	0.67691	0.593	0.72247	0.492305710705	0.48864	0.6255941202970919	0.62492	0.989609882362	0.74023	0.592254757881	0.51813	T	0.222709	0.58664	T	0.235791	0.77266	D	0.100921	0.76970	D	0.983949601650238	0.75426	D	0.938306	0.76795	D	0.6196042	0.73742	0.767549	0.86272	0.6196042	0.73743	0.767549	0.86273	-7.167	0.56494	T	.	.	0.636	0.70373	P	.;.;.;.;.;.	.;.;.;.;.;.	4.510761	0.70634	25.6	0.96532712939197884	0.30158	0.98710	0.85869	D	AEFBI	0.702627	0.65893	D	0.673603592229058	0.77903	6.765224	0.669889850230647	0.80098	7.224212	0.867453677020703	0.25347	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.96	5.96	0.96695	4.360000	0.59229	7.956000	0.75945	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:0.0:1.0	14.999	0.71112	836	0.38045	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5815.12	41	chr6	70526542	.	T	G	5815.12	.	AC=2;AF=0.1;AN=20;DP=540;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.13;SOR=0.859	GT:AD:DP:GQ:PL	1/1:0,193:193:99:5838,579,0	9	1	0	0
chr6	83593589	83593589	C	T	exonic	SNAP91	.	nonsynonymous SNV	SNAP91:NM_001256718:exon16:c.G1228A:p.V410I,SNAP91:NM_001376687:exon16:c.G1564A:p.V522I,SNAP91:NM_001376695:exon16:c.G1537A:p.V513I,SNAP91:NM_001376696:exon16:c.G1537A:p.V513I,SNAP91:NM_001376697:exon16:c.G1537A:p.V513I,SNAP91:NM_001376698:exon16:c.G1537A:p.V513I,SNAP91:NM_001376701:exon16:c.G1537A:p.V513I,SNAP91:NM_001376712:exon16:c.G1564A:p.V522I,SNAP91:NM_001376716:exon16:c.G1537A:p.V513I,SNAP91:NM_001376717:exon16:c.G1537A:p.V513I,SNAP91:NM_001376728:exon16:c.G1405A:p.V469I,SNAP91:NM_001376733:exon16:c.G1564A:p.V522I,SNAP91:NM_001376734:exon16:c.G1564A:p.V522I,SNAP91:NM_001376736:exon16:c.G1537A:p.V513I,SNAP91:NM_001376737:exon16:c.G1564A:p.V522I,SNAP91:NM_001242792:exon17:c.G1585A:p.V529I,SNAP91:NM_001242793:exon17:c.G1579A:p.V527I,SNAP91:NM_001363677:exon17:c.G1585A:p.V529I,SNAP91:NM_001376675:exon17:c.G1579A:p.V527I,SNAP91:NM_001376676:exon17:c.G1579A:p.V527I,SNAP91:NM_001376677:exon17:c.G1579A:p.V527I,SNAP91:NM_001376678:exon17:c.G1579A:p.V527I,SNAP91:NM_001376679:exon17:c.G1579A:p.V527I,SNAP91:NM_001376680:exon17:c.G1579A:p.V527I,SNAP91:NM_001376681:exon17:c.G1579A:p.V527I,SNAP91:NM_001376682:exon17:c.G1579A:p.V527I,SNAP91:NM_001376683:exon17:c.G1579A:p.V527I,SNAP91:NM_001376684:exon17:c.G1579A:p.V527I,SNAP91:NM_001376685:exon17:c.G1579A:p.V527I,SNAP91:NM_001376686:exon17:c.G1579A:p.V527I,SNAP91:NM_001376688:exon17:c.G1579A:p.V527I,SNAP91:NM_001376689:exon17:c.G1579A:p.V527I,SNAP91:NM_001376690:exon17:c.G1579A:p.V527I,SNAP91:NM_001376691:exon17:c.G1579A:p.V527I,SNAP91:NM_001376692:exon17:c.G1579A:p.V527I,SNAP91:NM_001376693:exon17:c.G1558A:p.V520I,SNAP91:NM_001376694:exon17:c.G1579A:p.V527I,SNAP91:NM_001376699:exon17:c.G1579A:p.V527I,SNAP91:NM_001376700:exon17:c.G1579A:p.V527I,SNAP91:NM_001376702:exon17:c.G1579A:p.V527I,SNAP91:NM_001376703:exon17:c.G1579A:p.V527I,SNAP91:NM_001376704:exon17:c.G1579A:p.V527I,SNAP91:NM_001376705:exon17:c.G1579A:p.V527I,SNAP91:NM_001376706:exon17:c.G1579A:p.V527I,SNAP91:NM_001376707:exon17:c.G1579A:p.V527I,SNAP91:NM_001376708:exon17:c.G1579A:p.V527I,SNAP91:NM_001376709:exon17:c.G1579A:p.V527I,SNAP91:NM_001376710:exon17:c.G1579A:p.V527I,SNAP91:NM_001376711:exon17:c.G1579A:p.V527I,SNAP91:NM_001376713:exon17:c.G1579A:p.V527I,SNAP91:NM_001376714:exon17:c.G1579A:p.V527I,SNAP91:NM_001376718:exon17:c.G1579A:p.V527I,SNAP91:NM_001376719:exon17:c.G1579A:p.V527I,SNAP91:NM_001376723:exon17:c.G1405A:p.V469I,SNAP91:NM_001376726:exon17:c.G1405A:p.V469I,SNAP91:NM_001376731:exon17:c.G1579A:p.V527I,SNAP91:NM_014841:exon17:c.G1585A:p.V529I,SNAP91:NM_001376715:exon18:c.G1486A:p.V496I,SNAP91:NM_001376720:exon18:c.G1405A:p.V469I,SNAP91:NM_001376721:exon18:c.G1405A:p.V469I,SNAP91:NM_001376735:exon18:c.G1405A:p.V469I,SNAP91:NM_001256717:exon20:c.G1474A:p.V492I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00517523897528	0.0002	0.000399361	0.0002	0.0011	0.0014	0	0.0008	0	0	0.0001	8.41e-05	13	154602	rs185738452	3.314e-05	3.762e-05	3.488e-05	3.136e-05	0.0005	2.554e-05	2.289e-05	0.0003	0.0003	0.0005	0.0002	0	2.703e-05	1.984e-05	0.0003	1.193e-05	6.797e-05	4.903e-05	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	9.706e-05	0.0004	0.0003	0.0005	0	6.546e-05	0	0	9.436e-05	0	1.471e-05	0	0	0.022	0.48642	D	0.444	0.14412	T	0.751	0.43285	P	0.098	0.30479	B	0.521613	0.11735	N	0.804542	1	0.81001	D	1.39	0.34934	L	2.55	0.14038	T	-0.26	0.11185	N	0.096	0.13198	-0.9438	0.42009	T	0.009	0.03315	T	10	0.025821805	0.00765	T	0.005175	0.13156	T	0.036	0.09122	.	.	0.295975759948	0.29207	0.14154824931179943	0.14077	0.106651462539	0.12055	0.310867905617	0.12039	T	0.010145	0.27673	T	-0.517987	0.00452	T	-0.619919	0.11192	T	0.0357514714376812	0.02937	T	0.79872	0.45852	T	0.12154864	0.28580	0.0772983	0.17204	0.12154864	0.28580	0.0772983	0.17204	-5.806	0.44774	T	.	.	0.113	0.23219	B	.;.;.;.;.;.	.;.;.;.;.;.	2.940043	0.39084	20.9	0.77495048902959141	0.11900	0.91281	0.53218	D	AEFBCI	0.668890	0.63651	D	-0.131803163012647	0.36011	2.07595	0.0405116287765267	0.41615	2.503178	0.999098429627806	0.38425	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	5.42	4.55	0.55429	3.666000	0.54277	1.005000	0.23289	0.524000	0.24156	1.000000	0.71638	0.655000	0.25985	0.983000	0.59808	0.0:0.7813:0.1426:0.0761	9.515	0.38264	677	0.60274	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1296.43	33	chr6	83593589	.	C	T	1296.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=434;ExcessHet=0;FS=3.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.352;SOR=0.749	GT:AD:DP:GQ:PL	0/1:49,53:102:99:1308,0,1086	9	0	1	0
chr6	99380330	99380330	G	A	exonic	COQ3	.	nonsynonymous SNV	COQ3:NM_017421:exon3:c.C245T:p.A82V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0100	0.0107827	0.0031	0.0314	0.0021	0	0	0.0002	0	0.0004	0.0028654	443	154602	rs111455620	0.0010	0.0011	0.0012	0.0009	0.0334	0.0010	0.0010	0.0317	0.0311	0.0334	0.0028	0.0015	0	0	0.0014	5.037e-05	0.0026	0.0003	0.0098	0.0098	0.0101	0.0094	0.0328	0.0093	0.0092	0.0314	0.0308	0.0328	0	0.0066	0.0006	0	0	0	7.351e-05	0.0066	0.0002	0.48	0.08237	T	0.433	0.13595	T	0.001	0.07471	B	0.001	0.04355	B	0.338147	0.14005	N	0.710705	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	0.27	0.04306	N	0.051	0.02272	-0.9427	0.42185	T	0.005	0.01688	T	10	0.003418833	0.00060	T	.	.	.	0.009	0.00846	.	.	0.0846915920261	0.08053	0.3234851800120706	0.32261	0.0570085514452	0.06303	0.204086884856	0.00585	T	0.020839	0.16335	T	-0.767149	0.00014	T	-0.849666	0.00964	T	0.000273412092301188	0.00002	T	0.30107	0.05662	T	0.022116918	0.00853	0.02739742	0.00889	0.022116918	0.00853	0.02739742	0.00889	-2.972	0.09882	T	.	.	0.079	0.07177	B	.	.	0.260852	0.06395	2.860	0.78476678722029514	0.12317	0.03836	0.09183	N	AEFI	0.069582	0.13779	N	-1.41066776971381	0.02544	0.1124849	-1.39006867755282	0.03357	0.1564246	2.45092161958199E-4	0.06141	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.59	-1.89	0.07271	-0.753000	0.04897	0.439000	0.18405	-0.182000	0.10109	0.000000	0.06391	0.005000	0.19230	0.021000	0.11733	0.2532:0.1109:0.3372:0.2988	0.901	0.01192	571	0.70397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.010101	0.002717	0.005848	0.000000	0.000000	0.000000	0.003788	0.1	1451.14	33	chr6	99380330	.	G	A	1451.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.543;DP=361;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=16.12;ReadPosRankSum=0.637;SOR=0.781	GT:AD:DP:GQ:PL	0/1:13,24:37:99:626,0,262	8	0	2	0
chr6	100642628	100642628	A	G	exonic	ASCC3	.	nonsynonymous SNV	ASCC3:NM_006828:exon24:c.T3854C:p.I1285T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.102775253163	0.0018	0.000798722	0.0004	0.0045	0.0002	0	0	5.994e-05	0	0	0.0003946	61	154602	rs149055216	0.0001	0.0001	0.0001	0.0001	0.0036	0.0001	0.0001	0.0030	0.0028	0.0036	0.0004	0	0	0	0	1.349e-05	0.0004	0	0.0012	0.0012	0.0014	0.0010	0.0043	0.0011	0.0010	0.0038	0.0036	0.0043	0	0.0006	0	0	0	0	0	0.0009	0	0.004	0.65419	D	0.005	0.72224	D	0.998	0.73220	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.725	0.79712	M	-0.03	0.63077	T	-3.78	0.71519	D	0.944	0.95139	-0.0770	0.80620	T	0.398	0.74988	T	10	0.07797846	0.12373	T	0.102775	0.77644	D	0.724	0.90280	.	.	0.753514998094	0.75128	0.8172165775823037	0.81678	0.995167280949	0.74201	0.918202996254	0.98183	D	0.18877	0.54278	T	0.0281029	0.55469	T	0.267447	0.86446	D	0.0697010767440334	0.08609	T	0.990401	0.97014	D	0.63222957	0.74417	0.5222677	0.72399	0.63222957	0.74418	0.5222677	0.72400	-9.992	0.73864	D	.	.	0.949	0.86751	P	.	.	4.499637	0.70358	25.5	0.99878349263811939	0.95491	0.99163	0.92158	D	AEFGBI	0.881562	0.80903	D	0.830455776640382	0.87968	9.40561	0.781440056696169	0.88475	9.595799	0.999987507556938	0.51787	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	9.321000	0.95528	11.251000	0.90746	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.969	0.70868	906	0.23090	Sec63 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	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	3268.14	34	chr6	100642628	.	A	G	3268.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.21;DP=554;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.123;SOR=0.709	GT:AD:DP:GQ:PL	0/1:58,78:136:99:1759,0,1231	8	0	2	0
chr6	107634459	107634459	A	G	exonic	SOBP	.	nonsynonymous SNV	SOBP:NM_018013:exon6:c.A1615G:p.I539V	Mental retardation, anterior maxillary protrusion, and strabismus, Autosomal recessive	6	1455	54	7	0	68	0.0228341	.	.	.	135807	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.142	.	0.0037	0.0105831	0.0073	0.0074	0.0063	0.0092	0.0011	0.0042	0.0143	0.0208	0.0063389	980	154602	rs146747167	0.0044	0.0044	0.0039	0.0050	0.0276	0.0043	0.0043	0.0241	0.0227	0.0065	0.0066	0.0144	0.0147	0.0007	0.0276	0.0023	0.0071	0.0205	0.0061	0.0061	0.0059	0.0062	0.0203	0.0058	0.0056	0.0170	0.0158	0.0073	0	0.0115	0.0174	0.0095	0.0002	0.0171	0.0032	0.0086	0.0203	0.01	0.56456	D	0.162	0.31225	T	0.978	0.58756	D	0.968	0.71741	D	0.000055	0.53742	D	0.071526	0.99999	0.58761	D	1.52	0.38360	L	1.03	0.40469	T	-0.55	0.16799	N	0.505	0.53708	-1.0149	0.25368	T	0.102	0.37568	T	10	0.008447349	0.00191	T	.	.	.	0.142	0.37995	.	.	0.115124310173	0.11017	0.5404988772062471	0.53974	.	.	0.703159928322	0.67601	T	0.117586	0.43778	T	-0.388018	0.02770	T	-0.315201	0.43099	T	0.0261456943927532	0.01425	T	0.887811	0.61653	D	0.14428282	0.33124	0.14668486	0.34743	0.14428282	0.33124	0.14668486	0.34742	-7.12	0.54904	T	.	.	0.179	0.38994	B	.	.	3.774690	0.54236	23.5	0.99785662079997073	0.87219	0.97112	0.72760	D	AEFDBI	0.851424	0.76828	D	0.436393661146034	0.63436	4.577202	0.427861838613394	0.63305	4.561854	0.999999999992883	0.74766	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.1	4.1	0.47196	6.628000	0.74125	10.844000	0.83917	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.662000	0.33024	1.0:0.0:0.0:0.0	13.279	0.59638	731	0.54177	.	.	.	.	.	.	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	0.019134	0.030303	0.023098	0.008772	0.000000	0.008621	0.006098	0.018939	0.05	786.43	33	chr6	107634459	.	A	G	786.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.191;DP=409;ExcessHet=0;FS=4.393;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=1.16;SOR=0.744	GT:AD:DP:GQ:PL	0/1:42,36:78:99:798,0,960	9	0	1	0
chr6	109516604	109516604	T	G	exonic	AK9	.	nonsynonymous SNV	AK9:NM_001145128:exon30:c.A3672C:p.E1224D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0133684380576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	0.17701	T	0.246	0.23984	T	0.002	0.09854	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.345	0.33447	L	-0.21	0.66294	T	-0.77	0.21429	N	0.121	0.11197	-0.9077	0.47133	T	0.030	0.12892	T	8	0.02665013	0.00826	T	0.013368	0.32721	T	0.180	0.45073	0.147	0.05039	0.0611884634855	0.05136	0.1244099215015231	0.12366	0.117407629759	0.13229	0.359618991613	0.19329	T	0.003997	0.03403	T	-0.216949	0.18411	T	-0.549408	0.17383	T	0.0965520450902912	0.11973	T	0.339966	0.07337	T	0.046675973	0.07851	0.060436226	0.11511	0.046675973	0.07850	0.060436226	0.11510	-4.107	0.25394	T	.	.	0.074	0.05017	B	.	.	-1.279427	0.00456	0.009	0.18616677907853912	0.00593	0.03715	0.09002	N	AEFGBI	0.150392	0.27468	N	-1.79181531339549	0.00565	0.02435351	-2.02354459663737	0.00273	0.01204969	0.99999999869769	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.64	-9.29	0.00554	-3.114000	0.00659	-5.434000	0.01720	-1.913000	0.00513	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2487:0.1704:0.2461:0.3349	0.328	0.00293	697	0.58201	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	1	0	0	0	.	.	.	.	.	.	.	.	0.05	625.43	33	chr6	109516604	.	T	G	625.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.499;DP=353;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=1.8;SOR=0.804	GT:AD:DP:GQ:PL	0/1:26,25:51:99:637,0,679	9	0	1	0
chr6	116647521	116647521	T	C	exonic	ZUP1	.	nonsynonymous SNV	ZUP1:NM_001361191:exon7:c.A818G:p.E273G,ZUP1:NM_001361189:exon8:c.A1406G:p.E469G,ZUP1:NM_001361190:exon8:c.A902G:p.E301G,ZUP1:NM_145062:exon8:c.A1406G:p.E469G	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0112721501329	0.0009	0.000399361	0.0010	0	0.0005	0	0	0.0017	0.0022	0.0001	0.0009767	151	154602	rs145019610	0.0008	0.0008	0.0008	0.0008	0.0012	0.0008	0.0008	0.0006	0.0004	5.991e-05	0.0006	0.0221	0	1.895e-05	0.0012	0.0004	0.0021	5.906e-05	0.0010	0.0010	0.0010	0.0010	0.0012	0.0009	0.0008	0.0008	0.0007	2.406e-05	0	0.0012	0.0265	0	9.422e-05	0	0.0006	0.0014	0.0002	0.183	0.21718	T	0.309	0.19782	T	0.004	0.12183	B	0.004	0.10090	B	0.143679	0.18203	N	0.590360	0.68812	0.33299	D	.	.	.	1.48	0.31731	T	0.08	0.06026	N	0.199	0.21969	-1.0342	0.19109	T	0.016	0.06664	T	10	0.0035780668	0.00065	T	0.011272	0.28723	T	0.137	0.36984	.	.	0.238096912614	0.23440	0.3370921876838863	0.33622	0.392253626547	0.40409	0.389418780804	0.23587	T	0.001211	0.00709	T	-0.539341	0.00338	T	-0.630534	0.10374	T	0.0347988766970412	0.02775	T	0.582242	0.21111	T	0.13868183	0.32064	0.06918779	0.14545	0.13868183	0.32064	0.06918779	0.14544	-5.078	0.37674	T	.	.	0.076	0.06114	B	.	.	2.127782	0.27087	17.34	0.96888735901079237	0.31488	0.75199	0.36808	D	AEFBI	0.185689	0.31301	N	-0.467145087098508	0.23162	1.24193	-0.259166875711531	0.29457	1.650484	0.957874029027005	0.28329	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.28	4.15	0.47978	1.098000	0.30612	3.260000	0.37085	0.609000	0.47794	0.977000	0.34929	1.000000	0.68203	0.834000	0.39329	0.0:0.114:0.0:0.886	9.715	0.39436	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.002924	0.000000	0.008621	0.006098	0.000000	0.1	1628.14	42	chr6	116647521	.	T	C	1628.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.187;DP=435;ExcessHet=0.2348;FS=1.313;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.101;SOR=0.832	GT:AD:DP:GQ:PL	0/1:34,30:64:99:609,0,716	8	0	2	0
chr6	125927739	125927739	C	T	exonic	NCOA7	.	nonsynonymous SNV	NCOA7:NM_001199622:exon4:c.C431T:p.T144I,NCOA7:NM_001199621:exon13:c.C2255T:p.T752I,NCOA7:NM_001122842:exon14:c.C2567T:p.T856I,NCOA7:NM_181782:exon14:c.C2600T:p.T867I,NCOA7:NM_001199619:exon15:c.C2600T:p.T867I,NCOA7:NM_001199620:exon16:c.C2600T:p.T867I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.0337695859575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.046049	0.999991	0.58761	D	2.645	0.77386	M	0.85	0.47130	T	-4.55	0.78553	D	0.593	0.61341	-0.3737	0.72848	T	0.322	0.69099	T	10	0.5296869	0.63112	D	0.03377	0.55213	D	0.310	0.63162	0.542	0.65446	0.110392049598	0.10638	0.7361813659560693	0.73563	0.493758875756	0.47968	0.727325379848	0.71116	T	0.326126	0.69677	T	0.0912494	0.63330	D	-0.106703	0.62872	T	0.981613278388977	0.74012	D	0.966203	0.94055	D	0.912213	0.92502	0.8593696	0.92136	0.912213	0.92503	0.8593696	0.92136	-7.026	0.57596	T	.	.	0.909	0.86127	P	.;.;.;.;.	.;.;.;.;.	4.862997	0.79599	27.1	0.99875501728492933	0.95244	0.87302	0.46800	D	AEFBCI	0.314837	0.41958	N	0.790928341836536	0.85532	8.604846	0.755157991166596	0.86543	8.92262	0.999999978872137	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	4.226000	0.58405	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.071	0.97721	817	0.41665	TLDc domain|TLDc domain;TLDc domain|TLDc domain;.;TLDc domain|TLDc domain;TLDc domain|TLDc domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	87.93	34	chr6	125927739	.	C	T	87.93	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.76;DP=893;ExcessHet=0.2348;FS=135.939;InbreedingCoeff=-0.1356;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.25;ReadPosRankSum=1.45;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,22:159:45:0|1:125927739_C_T:45,0,4635:125927739	8	0	2	0
chr6	138404520	138404520	C	T	exonic	HEBP2	.	nonsynonymous SNV	HEBP2:NM_001326381:exon1:c.C25T:p.P9S,HEBP2:NM_014320:exon1:c.C25T:p.P9S	.	444	1067	11	0	0	11	0.00512821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	0.000998403	0.0114	0	0	0	.	0.0577	.	0.0037	0.0004592	71	154602	rs534012762	0.0057	0.0049	0.0059	0.0056	0.0063	0.0056	0.0056	0.0062	0.0061	0.0009	0.0014	0.0073	3.705e-05	0.0015	0.0059	0.0063	0.0052	0.0028	0.0036	0.0036	0.0038	0.0034	0.0048	0.0034	0.0033	0.0044	0.0042	0.0012	0.0833	0.0022	0.0063	0	0.0024	0.0034	0.0048	0.0019	0.0029	0.331	0.13088	T	0.535	0.11586	T	0.0	0.02946	B	0.0	0.01387	B	0.488886	0.05024	N	1.355200	1	0.08975	N	0.69	0.16971	N	.	.	.	0.23	0.04613	N	0.081	0.06454	-0.9953	0.31218	T	0.011	0.04181	T	10	0.0024902225	0.00037	T	.	.	.	0.011	0.01250	.	.	0.0401082797425	0.02173	0.4642122900808919	0.46340	0.0449599093349	0.04864	0.670815944672	0.62954	T	0.008932	0.08161	T	-0.620581	0.00109	T	-0.665036	0.07931	T	0.0324723263188649	0.02384	T	0.430757	0.11694	T	0.023709381	0.01135	0.050705973	0.08014	0.023709381	0.01135	0.050705973	0.08013	-3.704	0.19377	T	.	.	0.076	0.05890	B	.;.	.;.	0.255849	0.06345	2.809	0.90006153036151082	0.19296	0.02469	0.06929	N	ALL	0.035778	0.04661	N	-1.34913558973648	0.03134	0.1395019	-1.37821957523217	0.03485	0.1626643	0.999999971033769	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.92	1.03	0.19161	-0.105000	0.10876	0.131000	0.15046	-0.295000	0.06246	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1702:0.5046:0.2109:0.1143	2.552	0.04462	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	0.001276	0.000000	0.000000	0.004808	0.000000	0.000000	0.000000	0.000000	0.05	54.43	35	chr6	138404520	.	C	T	54.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.062;DP=225;ExcessHet=0;FS=0;InbreedingCoeff=-0.0528;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.2;ReadPosRankSum=0.284;SOR=0.368	GT:AD:DP:GQ:PL	0/1:13,4:17:66:66,0,356	9	0	1	0
chr6	152390293	152390293	C	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon53:c.G8185A:p.V2729I,SYNE1:NM_182961:exon53:c.G8164A:p.V2722I	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	2	1505	15	0	0	15	0.00495868	.	.	.	195116	not_specified|SYNE1-related_disorder|not_provided|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.039	.	0.0072	0.00319489	0.0063	0.0014	0.0016	0.0001	0.0111	0.0090	0.0033	0.0035	0.0062224	962	154602	rs151091241	0.0075	0.0075	0.0074	0.0076	0.0083	0.0074	0.0073	0.0081	0.0081	0.0012	0.0017	0.0111	0.0002	0.0104	0.0063	0.0083	0.0064	0.0039	0.0067	0.0067	0.0069	0.0064	0.0097	0.0063	0.0062	0.0091	0.0088	0.0019	0.0285	0.0040	0.0127	0	0.0116	0.0034	0.0097	0.0057	0.0031	0.533	0.06957	T	0.141	0.33780	T	0.001	0.07471	B	0.001	0.04355	B	0.406975	0.04568	N	1.358490	1	0.08975	N	0.975	0.24501	L	1.36	0.34452	T	0.09	0.06253	N	0.118	0.10769	-1.0545	0.13172	T	0.023	0.09832	T	10	0.0038227737	0.00072	T	.	.	.	0.039	0.10176	.	.	0.0846915920261	0.08053	0.024331021736669012	0.02384	0.106343627862	0.12022	0.233329594135	0.02224	T	0.120855	0.44340	T	-0.681705	0.00047	T	-0.742604	0.03782	T	0.00260534037458298	0.00027	T	0.268673	0.04486	T	0.018339487	0.00355	0.02465878	0.00489	0.016190654	0.00182	0.026594866	0.00757	-3.85	0.21553	T	.	.	0.066	0.02313	B	.;.;.	.;.;.	-1.343160	0.00403	0.008	0.68992732397319667	0.08831	0.01856	0.05735	N	AEFI	0.081305	0.16450	N	-1.58915516320912	0.01319	0.05746705	-1.70972514132429	0.01095	0.04919225	0.999999974319441	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	-12.3	0.00001	-0.705000	0.05154	-14.321000	0.00410	-1.988000	0.00457	0.000000	0.06391	0.000000	0.08366	0.206000	0.22070	0.0662:0.2809:0.1314:0.5215	7.246	0.25296	863	0.32847	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.005435	0.000000	0.000000	0.000000	0.009146	0.003788	0.1	2633.14	39	chr6	152390293	.	C	T	2633.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.364;DP=497;ExcessHet=0.2348;FS=1.198;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=1.76;SOR=0.798	GT:AD:DP:GQ:PL	0/1:43,50:93:99:1236,0,1004	8	0	2	0
chr6	158585341	158585341	A	C	exonic	TMEM181	.	nonsynonymous SNV	TMEM181:NM_001376856:exon2:c.A54C:p.K18N,TMEM181:NM_001376855:exon4:c.A201C:p.K67N,TMEM181:NM_001376817:exon5:c.A420C:p.K140N,TMEM181:NM_001376850:exon5:c.A297C:p.K99N,TMEM181:NM_001376852:exon5:c.A297C:p.K99N,TMEM181:NM_001376854:exon5:c.A297C:p.K99N,TMEM181:NM_020823:exon5:c.A420C:p.K140N	.	431	1069	21	1	0	23	0.0106432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0072	0.00439297	0.0060	0.0016	0.0040	0.0002	0.0023	0.0089	0.0090	0.0028	0.0061772	955	154602	rs41266341	0.0078	0.0078	0.0079	0.0077	0.0169	0.0077	0.0076	0.0142	0.0132	0.0010	0.0049	0.0186	2.525e-05	0.0013	0.0169	0.0087	0.0083	0.0033	0.0062	0.0062	0.0064	0.0059	0.0091	0.0058	0.0057	0.0084	0.0082	0.0015	0.0011	0.0091	0.0210	0	0.0006	0.0272	0.0090	0.0104	0.0025	0.136	0.26085	T	0.237	0.24621	T	0.788	0.44546	P	0.201	0.36881	B	0.000000	0.84330	D	0.092195	0.708289	0.33492	D	2.2	0.62015	M	.	.	.	-1.31	0.32791	N	0.684	0.69037	-1.0861	0.06209	T	0.042	0.18118	T	9	0.00878191	0.00199	T	.	.	.	0.124	0.34239	0.407	0.44066	0.0762999501168	0.06990	0.445810111811711	0.44499	0.207708327126	0.23235	0.658450484276	0.61187	T	0.013	0.11252	T	-0.504487	0.00539	T	-0.488042	0.23596	T	0.0240138043545516	0.01147	T	0.808019	0.45805	T	0.08445353	0.19549	0.10617646	0.25537	0.08445353	0.19549	0.10617646	0.25536	-8.518	0.64548	D	.	.	0.513	0.65158	A	.	.	1.649449	0.21042	15.03	0.99334652967786197	0.59934	0.86213	0.45451	D	AEFDBI	0.104897	0.20976	N	-0.348541092712033	0.27326	1.498331	-0.371911551102668	0.25838	1.423409	0.478385295646404	0.20765	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	-1.12	0.09306	0.817000	0.26938	0.764000	0.21339	0.691000	0.84096	1.000000	0.71638	0.984000	0.30665	0.993000	0.69303	0.5379:0.0:0.4621:0.0	9.748	0.39624	644	0.63734	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015641	0.015152	0.021739	0.011696	0.000000	0.025862	0.006173	0.007576	0.05	808.43	33	chr6	158585341	.	A	C	808.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.694;DP=393;ExcessHet=0;FS=1.8;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-1.624;SOR=0.914	GT:AD:DP:GQ:PL	0/1:42,38:80:99:820,0,989	9	0	1	0
chr6	159692689	159692689	C	G	exonic	SOD2	.	nonsynonymous SNV	SOD2:NM_000636:exon2:c.G198C:p.E66D,SOD2:NM_001024465:exon2:c.G198C:p.E66D,SOD2:NM_001024466:exon2:c.G198C:p.E66D,SOD2:NM_001322814:exon2:c.G198C:p.E66D,SOD2:NM_001322815:exon2:c.G198C:p.E66D,SOD2:NM_001322816:exon2:c.G198C:p.E66D,SOD2:NM_001322819:exon2:c.G60C:p.E20D,SOD2:NM_001322820:exon2:c.G60C:p.E20D,SOD2:NM_001322817:exon4:c.G60C:p.E20D	.	411	1107	4	0	0	4	0.00180343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.0553397770076	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	0	5.5e-06	1.16e-05	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0	0	4.968e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.59928	T	0.474	0.22761	T	0.06	0.70673	B	0.123	0.74104	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.94	0.96382	H	1.91	0.23283	T	-2.7	0.61722	D	0.642	0.67045	-0.7931	0.55549	T	0.132	0.44425	T	10	0.5376678	0.63540	D	0.05534	0.66200	D	0.283	0.60100	0.505	0.59924	0.571207575158	0.56786	0.7653419996472962	0.76483	0.615936802871	0.56074	0.483740031719	0.36571	T	0.236718	0.60425	T	0.0173886	0.54029	T	-0.212799	0.53428	T	0.995941281318665	0.88365	D	0.977902	0.92154	D	0.72045493	0.79187	0.38162246	0.63168	0.72045493	0.79188	0.38162246	0.63167	-11.011	0.79866	D	.	.	0.817	0.83238	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.155207	0.42731	21.6	0.99824454969867782	0.90677	0.87939	0.47656	D	ALL	0.418790	0.48628	N	0.205601521569997	0.51470	3.327985	0.142225579448742	0.46732	2.914405	0.999999999999037	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.77	3.91	0.44383	1.542000	0.35742	3.043000	0.36089	-0.263000	0.06870	1.000000	0.71638	1.000000	0.68203	0.867000	0.41218	0.0:0.7598:0.0:0.2402	8.378	0.31614	725	0.54935	Manganese/iron superoxide dismutase, N-terminal;Manganese/iron superoxide dismutase, N-terminal;.;.;.;Manganese/iron superoxide dismutase, N-terminal;Manganese/iron superoxide dismutase, N-terminal;Manganese/iron superoxide dismutase, N-terminal;Manganese/iron superoxide dismutase, N-terminal;Manganese/iron superoxide dismutase, 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	.	.	.	.	.	.	.	.	0.05	1957.43	38	chr6	159692689	.	C	G	1957.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.867;DP=511;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-1.346;SOR=0.719	GT:AD:DP:GQ:PL	0/1:102,90:192:99:1969,0,2646	9	0	1	0
chr7	822891	822962	CACACACACGGCCCTGTGGCCACCCGTGAATTCCCACACACACACGGCCCTGTGGCCACCCGTGAATTCCCA	-	exonic	SUN1	.	nonframeshift deletion	SUN1:NM_001367651:exon2:c.126_197del:p.V51_P74del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	77.9	1	chr7	822890	.	GCACACACACGGCCCTGTGGCCACCCGTGAATTCCCACACACACACGGCCCTGTGGCCACCCGTGAATTCCCA	G	77.9	.	AC=2;AF=0.125;AN=16;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.125;MQ=60;QD=30.59;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	7	1	0	2
chr7	1057919	1057919	G	A	exonic	GPR146	.	nonsynonymous SNV	GPR146:NM_001303473:exon2:c.G404A:p.R135Q,GPR146:NM_138445:exon2:c.G404A:p.R135Q,GPR146:NM_001303474:exon3:c.G404A:p.R135Q	.	426	1077	19	0	0	19	0.00874367	.	.	.	2828175	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.345	0.0120507066438	0.0012	0.000998403	0.0017	0	0.0009	0.0001	0	0.0016	0.0011	0.0055	0.0015912	246	154602	rs61997249	0.0018	0.0018	0.0014	0.0022	0.0063	0.0018	0.0017	0.0051	0.0050	0.0004	0.0008	0.0033	5.546e-05	2.124e-05	0.0063	0.0015	0.0027	0.0056	0.0011	0.0011	0.0011	0.0010	0.0046	0.0009	0.0009	0.0031	0.0026	0.0003	0	0.0007	0.0043	0.0006	0	0.0102	0.0013	0.0038	0.0046	0.045	0.41637	D	0.0	0.92824	D	1.0	0.90584	D	0.973	0.72923	D	0.000001	0.84330	D	0.054412	1	0.81001	D	2.095	0.58118	M	1.22	0.37052	T	-1.76	0.41618	N	0.902	0.90251	-0.9929	0.31853	T	0.154	0.48412	T	10	0.013405383	0.00284	T	0.012051	0.30270	T	0.345	0.66676	.	.	0.533421582741	0.52991	0.4729941476133159	0.47218	0.455112802613	0.45190	0.781489372253	0.79152	T	0.050016	0.28474	T	-0.186421	0.22784	T	-0.0389143	0.67775	D	0.0399730544896217	0.03685	T	0.934007	0.75281	D	0.30338016	0.53206	0.1801791	0.40800	0.30338016	0.53206	0.1801791	0.40800	-3.872	0.21884	T	.	.	0.123	0.25817	B	.;.	.;.	4.389774	0.67742	25.1	0.9989422229020064	0.96742	0.98932	0.88807	D	AEFDGBI	0.850199	0.76702	D	0.473879809135591	0.65568	4.839104	0.440952117407391	0.64137	4.662197	0.999999999999968	0.74766	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	5.09	5.09	0.68647	9.209000	0.94206	8.520000	0.77419	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.833000	0.39279	0.0:0.0:1.0:0.0	17.471	0.87538	912	0.21483	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	0	0	1	0	0.011593	0.015152	0.013587	0.000000	0.000000	0.017241	0.018405	0.011364	0.05	2683.43	41	chr7	1057919	.	G	A	2683.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.813;DP=593;ExcessHet=0;FS=1.146;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=1.63;SOR=0.577	GT:AD:DP:GQ:PL	0/1:79,110:189:99:2695,0,1720	9	0	1	0
chr7	1436743	1436743	G	A	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon15:c.C2590T:p.R864W	.	.	.	.	.	.	.	.	0.0013	0.17	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.168302907795	0.0002	0.000199681	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs201856385	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	6.048e-05	6.833e-05	0.0011	2.556e-05	6.069e-05	0	0.0003	0.0002	3.511e-05	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0003	0.0002	4.813e-05	0	0	0.0006	0	0	0	0.0004	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.003041	0.35512	N	0.000000	0.991739	0.58761	D	3.47	0.92451	M	0.57	0.54347	T	-6.31	0.90812	D	0.682	0.68863	-0.3265	0.74237	T	0.349	0.71297	T	10	0.6189525	0.67867	D	0.168303	0.84644	D	0.315	0.63694	.	.	0.689101842501	0.68643	0.5608802423195292	0.56015	0.0766248698432	0.08601	0.417763203382	0.27529	T	0.226634	0.59171	T	-0.18388	0.23160	T	-0.183835	0.56165	T	0.488396027453059	0.32205	T	0.984602	0.94707	D	0.479432	0.65866	0.46500796	0.68951	0.479432	0.65866	0.46500796	0.68951	-9.934	0.73516	D	.	.	0.576	0.67886	P	.	.	3.695457	0.52675	23.3	0.99842932646272198	0.92316	0.84578	0.43661	D	AEFGBI	0.690860	0.65105	D	0.121710957134904	0.47477	2.972859	-0.0292371594749718	0.38400	2.261869	0.745050437036908	0.23272	0.732398	0.92422	0	0.588015	0.36545	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.02	0.058	0.13639	1.680000	0.37224	0.303000	0.17000	-0.146000	0.12295	1.000000	0.71638	0.996000	0.32793	0.783000	0.37026	0.0:0.0:0.6282:0.3718	12.906	0.57545	946	0.12043	bMERB domain|bMERB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	674.43	33	chr7	1436743	.	G	A	674.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.01;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.038;SOR=0.607	GT:AD:DP:GQ:PL	0/1:27,32:59:99:686,0,525	9	0	1	0
chr7	16600829	16600829	G	A	exonic	ANKMY2	.	nonsynonymous SNV	ANKMY2:NM_020319:exon10:c.C1258T:p.L420F	.	426	1044	50	2	0	54	0.0252101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	.	0.0067	0.00439297	0.0071	0.0013	0.0058	0	0.0008	0.0104	0.0132	0.0040	0.0068563	1060	154602	rs35504966	0.0067	0.0067	0.0065	0.0069	0.0562	0.0066	0.0065	0.0511	0.0492	0.0029	0.0055	0.0747	0	0.0011	0.0562	0.0054	0.0121	0.0046	0.0064	0.0064	0.0068	0.0060	0.0087	0.0061	0.0060	0.0075	0.0070	0.0015	0	0.0087	0.0786	0.0002	0.0009	0.0476	0.0064	0.0133	0.0050	0.088	0.32296	T	0.141	0.33442	T	0.119	0.26641	B	0.07	0.27859	B	0.298204	0.03938	N	1.466450	1	0.08975	N	0.345	0.11182	N	-0.75	0.73311	T	-0.63	0.18459	N	0.045	0.01740	-0.8165	0.54152	T	0.214	0.57547	T	10	0.0029207766	0.00047	T	.	.	.	0.219	0.51417	.	.	0.626644753645	0.62360	0.12344504020081694	0.12270	0.0543416032406	0.06012	0.250016897917	0.03769	T	0.001235	0.00725	T	-0.539205	0.00339	T	-0.543302	0.17974	T	0.00773720539080692	0.00090	T	0.448855	0.12628	T	0.044852592	0.07242	0.06048345	0.11525	0.044852592	0.07242	0.06048345	0.11524	-5.901	0.45444	T	.	.	0.068	0.02829	B	.	.	1.195981	0.15877	12.16	0.97636649181179258	0.35051	0.05254	0.11090	N	AEFBI	0.061389	0.11733	N	-0.782526810651424	0.13765	0.6805295	-0.788620490741912	0.14774	0.7737219	0.00813037390479041	0.11615	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.97	2.83	0.32150	0.199000	0.17037	1.786000	0.28758	0.676000	0.76740	0.000000	0.06391	0.009000	0.19889	0.556000	0.30317	0.0:0.4482:0.5518:0.0	12.596	0.55826	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.037261	0.020202	0.042120	0.090643	0.000000	0.034483	0.012195	0.011364	0.05	1090.43	44	chr7	16600829	.	G	A	1090.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.266;DP=454;ExcessHet=0;FS=3.744;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.107;SOR=1.085	GT:AD:DP:GQ:PL	0/1:52,46:98:99:1102,0,1267	9	0	1	0
chr7	20158698	20158698	C	A	exonic	MACC1	.	nonsynonymous SNV	MACC1:NM_182762:exon5:c.G1663T:p.V555L	.	437	1076	9	0	0	9	0.00416474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0063	0.00698882	0.0023	0.0198	0.0019	0	0.0005	0.0007	0.0011	0.0002	0.0022703	351	154602	rs34476934	0.0012	0.0012	0.0013	0.0011	0.0195	0.0011	0.0011	0.0183	0.0178	0.0195	0.0019	3.828e-05	5.04e-05	0.0002	0.0158	0.0007	0.0025	0.0004	0.0060	0.0060	0.0060	0.0060	0.0195	0.0057	0.0056	0.0184	0.0180	0.0195	0	0.0035	0	0.0002	0.0004	0.0204	0.0004	0.0047	0.0002	0.236	0.17940	T	0.28	0.21678	T	0.797	0.44809	P	0.453	0.46205	P	0.000000	0.84330	D	0.053166	0.999998	0.58761	D	1.81	0.47622	L	2.93	0.09822	T	-1.51	0.36787	N	0.467	0.50868	-1.1228	0.02162	T	0.021	0.08639	T	10	0.007229477	0.00164	T	.	.	.	0.119	0.33137	0.358	0.36060	0.330069100803	0.32608	0.4445489742465957	0.44372	0.0401084390643	0.04292	0.365905284882	0.20243	T	0.016019	0.13326	T	-0.575668	0.00205	T	-0.582098	0.14359	T	0.0214443864775538	0.00847	T	0.693931	0.30359	T	0.15606171	0.35237	0.16399838	0.38014	0.15606171	0.35237	0.16399838	0.38013	-6.495	0.50248	T	.	.	0.244	0.49893	B	.;.;.	.;.;.	1.739059	0.22131	15.49	0.96619238798312734	0.30473	0.74214	0.36302	D	AEFDGBHCI	0.514073	0.54160	D	0.0042814080960758	0.42049	2.526362	-0.0410270374019628	0.37882	2.224042	0.99999997014434	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.658983	0.55881	0	0.665031	0.64506	0	.	.	5.81	4.94	0.64645	1.109000	0.30749	-0.074000	0.12261	0.599000	0.40250	0.394000	0.26121	0.000000	0.08366	0.412000	0.27050	0.0:0.8607:0.0:0.1393	11.944	0.52203	845	0.36510	SH3 domain;SH3 domain;SH3 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	0.018127	0.020202	0.019022	0.038012	0.050000	0.025862	0.003049	0.000000	0.05	936.43	33	chr7	20158698	.	C	A	936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.069;DP=447;ExcessHet=0;FS=5.769;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=0.255;SOR=1.223	GT:AD:DP:GQ:PL	0/1:96,42:138:99:948,0,2576	9	0	1	0
chr7	21698104	21698104	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon36:c.A6071G:p.E2024G	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.0332999689347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	.	.	.	.	.	.	.	.	.	0.000003	0.62929	D	0.058302	0.999999	0.58761	D	.	.	.	0.77	0.49642	T	-5.75	0.87760	D	0.646	0.72031	-0.5355	0.67334	T	0.296	0.66716	T	9	0.7471018	0.75367	D	0.033	0.54882	D	0.499	0.78288	0.509	0.60540	0.544389754888	0.54093	0.5083836818419519	0.50760	.	.	0.613233447075	0.54774	T	0.213451	0.57477	T	0.0619274	0.59855	T	-0.148822	0.59347	T	0.998075246810913	0.93161	D	0.949205	0.80472	D	0.4467604	0.63836	0.63361263	0.78618	0.4467604	0.63836	0.63361263	0.78618	-7.746	0.59327	D	0.6287400330376665	0.69789	0.109	0.20857	B	.;.;.	.;.;.	4.035569	0.59704	24.1	0.99881654220320248	0.95733	0.99016	0.90001	D	AEFI	0.925872	0.90609	D	0.707956796142107	0.80153	7.231841	0.706113036585603	0.82844	7.868694	0.999864230428166	0.44398	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.33	5.33	0.75683	9.325000	0.96006	11.130000	0.86775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	1.0:0.0:0.0:0.0	15.299	0.73637	780	0.47616	Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain;Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain;Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|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	.	.	.	.	.	.	.	.	0.05	822.43	34	chr7	21698104	.	A	G	822.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.201;DP=382;ExcessHet=0;FS=1.926;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-1.26;SOR=0.534	GT:AD:DP:GQ:PL	0/1:37,37:74:99:834,0,836	9	0	1	0
chr7	26152717	26152717	C	G	exonic	NFE2L3	.	nonsynonymous SNV	NFE2L3:NM_004289:exon1:c.C219G:p.H73Q	.	427	1071	24	0	0	24	0.0110803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.000998403	0.0064	0	0	0	0	0.0242	0	0.0017	0.0007568	117	154602	rs576398496	0.0018	0.0018	0.0017	0.0018	0.0173	0.0017	0.0017	0.0140	0.0128	0.0004	0.0027	0.0349	0	3.072e-05	0.0173	0.0009	0.0054	0.0018	0.0019	0.0019	0.0020	0.0018	0.0024	0.0017	0.0017	0.0017	0.0015	0.0002	0	0.0024	0.0331	0	0	0.0137	0.0015	0.0071	0.0021	0.735	0.03753	T	0.673	0.06245	T	0.0	0.02946	B	0.0	0.01387	B	0.259267	0.03698	N	1.504130	1	0.08975	N	-0.69	0.01958	N	2.17	0.19020	T	0.22	0.04694	N	0.083	0.05929	-0.9941	0.31538	T	0.026	0.10954	T	10	0.003213942	0.00055	T	.	.	.	0.028	0.06331	0.147	0.05039	0.16115917748	0.15686	0.12624696372789396	0.12550	0.889988259667	0.70188	0.630593597889	0.57230	T	0.020447	0.16099	T	-0.678624	0.00049	T	-0.752499	0.03390	T	0.00425036761370737	0.00045	T	0.114889	0.00874	T	0.0308307	0.02815	0.030504718	0.01515	0.0308307	0.02815	0.030504718	0.01514	-3.212	0.12628	T	.	.	0.070	0.03372	B	.	.	0.181764	0.05692	2.139	0.50496829366368179	0.04394	0.00222	0.01252	N	AEFDBHCI	0.010430	0.00074	N	-1.72205867734724	0.00766	0.03310011	-1.74082218110768	0.00968	0.04337366	0.999999876021267	0.74766	0.733237	0.96898	0	0.484254	0.07192	0	0.600757	0.32118	0	0.627883	0.49187	0	.	.	4.13	-3.4	0.04549	-0.458000	0.06813	0.051000	0.14001	-1.193000	0.01371	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0:0.5025:0.2669:0.2307	10.514	0.44066	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025611	0.005814	0.024351	0.043046	0.100000	0.040816	0.007519	0.021930	0.05	529.43	35	chr7	26152717	.	C	G	529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.87;DP=328;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=2.18;SOR=0.99	GT:AD:DP:GQ:PL	0/1:10,21:31:99:541,0,185	9	0	1	0
chr7	26185116	26185116	G	C	exonic	NFE2L3	.	nonsynonymous SNV	NFE2L3:NM_004289:exon4:c.G1418C:p.S473T	.	419	1084	19	0	0	19	0.0086877	.	.	.	2828353	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.027	0.0056447648091	0.0028	0.000998403	0.0022	0.0003	0.0018	0	0	0.0034	0.0022	0.0011	0.0003687	57	154602	rs148970492	0.0017	0.0017	0.0017	0.0018	0.0217	0.0017	0.0017	0.0186	0.0174	0.0004	0.0025	0.0351	0	1.873e-05	0.0217	0.0008	0.0052	0.0014	0.0018	0.0018	0.0019	0.0017	0.0025	0.0016	0.0016	0.0016	0.0014	0.0002	0	0.0022	0.0331	0	0	0.0102	0.0013	0.0057	0.0025	0.091	0.31834	T	0.39	0.15506	T	0.001	0.07471	B	0.002	0.06944	B	0.683167	0.10241	N	0.878634	1	0.08975	N	2.455	0.71248	M	1.36	0.34452	T	-1.68	0.40082	N	0.085	0.06190	-0.9893	0.32778	T	0.069	0.28379	T	10	0.0036691427	0.00067	T	0.005645	0.14591	T	0.027	0.05988	.	.	0.343788945184	0.33981	0.1470148266944232	0.14623	0.00116936903274	0.00099	0.240790098906	0.02861	T	0.079789	0.36211	T	-0.589835	0.00168	T	-0.62496	0.10799	T	0.00694223880851506	0.00079	T	0.325667	0.06705	T	0.07156396	0.15854	0.05256115	0.08682	0.07156396	0.15854	0.05256115	0.08681	-4.556	0.31614	T	.	.	0.085	0.10062	B	.	.	-0.642518	0.01459	0.089	0.91445454571320628	0.20715	0.00190	0.01102	N	AEFDGBHCI	0.138395	0.25968	N	-0.822262829471552	0.12742	0.6230694	-0.87154998205728	0.12770	0.6588193	0.999999978988595	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.46	1.49	0.21966	-0.474000	0.06686	-0.990000	0.06682	-1.937000	0.00494	0.000000	0.06391	0.000000	0.08366	0.116000	0.19000	0.2138:0.3675:0.2934:0.1253	2.335	0.03986	752	0.51611	.	.	.	.	.	.	Likely benign	0	0	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	0.023782	0.007353	0.040984	0.042017	0.000000	0.017544	0.007143	0.004098	0.05	1587.43	39	chr7	26185116	.	G	C	1587.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=479;ExcessHet=0;FS=1.324;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.94;MQRankSum=-1.087;QD=10.87;ReadPosRankSum=-0.012;SOR=0.867	GT:AD:DP:GQ:PL	0/1:80,66:146:99:1599,0,1925	9	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	297.11	189	chr7	27094578	.	C	CGGGG	297.11	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.654;DP=802;ExcessHet=0.2348;FS=90.403;InbreedingCoeff=-0.1114;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=2.17;SOR=8.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:146,26:178:99:.:.:173,0,5627:.	8	0	2	0
chr7	31652795	31652795	C	G	exonic	ITPRID1	.	nonsynonymous SNV	ITPRID1:NM_194300:exon13:c.C3101G:p.P1034R,ITPRID1:NM_001257967:exon15:c.C3101G:p.P1034R	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00615268077865	0.0032	0.00119808	0.0034	0.0005	0.0010	0	0.0009	0.0051	0.0011	0.0032	0.0033829	523	154602	rs34177136	0.0043	0.0043	0.0042	0.0044	0.0049	0.0042	0.0042	0.0048	0.0048	0.0005	0.0013	0.0040	0	0.0010	0.0031	0.0049	0.0038	0.0036	0.0031	0.0031	0.0033	0.0029	0.0055	0.0029	0.0028	0.0050	0.0048	0.0010	0	0.0011	0.0072	0	0.0007	0.0034	0.0055	0.0033	0.0010	0.006	0.61437	D	0.0	0.92824	D	0.815	0.45525	P	0.314	0.41528	B	0.843657	0.07014	N	1.098150	1	0.08975	N	.	.	.	2.26	0.17596	T	-1.48	0.36189	N	0.124	0.19459	-1.0302	0.20390	T	0.029	0.12365	T	10	0.0040017962	0.00077	T	0.006153	0.16111	T	0.031	0.07369	.	.	0.0986583533028	0.09354	.	.	.	.	0.252019762993	0.03984	T	0.004624	0.04028	T	-0.638039	0.00086	T	-0.686386	0.06600	T	0.0065397225368435	0.00073	T	0.679032	0.28770	T	0.045630172	0.07501	0.04477363	0.05876	0.045630172	0.07501	0.04477363	0.05875	-3.754	0.22062	T	.	.	0.113	0.22354	B	.;.;.;.	.;.;.;.	1.911327	0.24272	16.34	0.92222356321370735	0.21597	0.03313	0.08377	N	AEFI	0.059684	0.11290	N	-0.835650302720572	0.12406	0.6045303	-1.01817122154694	0.09386	0.4666579	0.780041901574174	0.23825	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.96	-0.303	0.12158	0.035000	0.13685	0.077000	0.14340	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.1791:0.504:0.0:0.3169	3.633	0.07680	850	0.35610	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.010870	0.002924	0.000000	0.008621	0.015244	0.003788	0.1	1734.14	37	chr7	31652795	.	C	G	1734.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.984;DP=423;ExcessHet=0.2348;FS=2.841;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=1.05;SOR=1.103	GT:AD:DP:GQ:PL	0/1:23,25:48:99:695,0,653	8	0	2	0
chr7	44570813	44570813	C	T	exonic	DDX56	.	nonsynonymous SNV	DDX56:NM_019082:exon7:c.G955A:p.V319I	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0118273258257	0.0009	0.000599042	0.0012	0.0002	0.0006	0	0.0008	0.0013	0.0033	0.0025	0.0011319	175	154602	rs150431895	0.0013	0.0013	0.0012	0.0014	0.0042	0.0013	0.0013	0.0029	0.0024	0.0002	0.0008	3.827e-05	0	0.0005	0.0042	0.0014	0.0015	0.0023	0.0011	0.0011	0.0011	0.0012	0.0021	0.0010	0.0010	0.0016	0.0015	0.0003	0	0.0008	0.0003	0	0.0007	0.0068	0.0018	0.0028	0.0021	0.293	0.14843	T	0.447	0.13066	T	0.001	0.07471	B	0.003	0.08700	B	0.022465	0.26628	N	0.442265	1	0.81001	D	0.425	0.12573	N	-0.98	0.75789	T	-0.37	0.13226	N	0.214	0.23884	-1.0120	0.26291	T	0.149	0.47575	T	10	0.008664697	0.00196	T	0.011827	0.29841	T	0.064	0.18567	.	.	0.486779940545	0.48312	0.46082239846636947	0.46000	0.114167019288	0.12873	0.351416319609	0.18130	T	0.11823	0.43889	T	-0.422443	0.01650	T	-0.385134	0.35121	T	0.0098091396241014	0.00129	T	0.60234	0.22547	T	0.01351587	0.00061	0.020818803	0.00157	0.01351587	0.00061	0.020818803	0.00157	-5.063	0.37516	T	.	.	0.075	0.05317	B	.	.	2.304970	0.29499	18.14	0.93196650841988415	0.22863	0.65503	0.32759	D	AEFBCI	0.067357	0.13238	N	-0.466900810593887	0.23171	1.242427	-0.279856340593549	0.28763	1.606199	0.99690119972145	0.35104	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.23	3.42	0.38259	1.419000	0.34400	2.197000	0.31255	0.596000	0.33519	0.957000	0.33433	1.000000	0.68203	0.970000	0.54328	0.1846:0.6231:0.0:0.1923	4.131	0.09618	799	0.44747	Helicase, C-terminal|Helicase, C-terminal|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	0.004028	0.005051	0.001359	0.002924	0.000000	0.000000	0.012195	0.000000	0.05	2434.43	34	chr7	44570813	.	C	T	2434.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.855;DP=517;ExcessHet=0;FS=1.077;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.005;SOR=0.618	GT:AD:DP:GQ:PL	0/1:100,102:202:99:2446,0,2288	9	0	1	0
chr7	47829595	47829595	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565T:p.L2189F	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00242358400914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.156	0.31833	T	0.325	0.33132	B	0.037	0.23121	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.67	0.42885	L	1.99	0.21666	T	-1.12	0.28906	N	0.071	0.04426	-1.0143	0.25561	T	0.032	0.13635	T	10	0.06819993	0.09611	T	0.002424	0.04757	T	0.011	0.01250	0.462	0.53079	0.0806252709748	0.07271	0.07619938893513355	0.07555	0.119333337301	0.13438	0.287016183138	0.08490	T	0.119498	0.44106	T	-0.313121	0.07477	T	-0.687553	0.06531	T	0.07061240769398	0.08737	T	0.506949	0.16072	T	0.03793613	0.04957	0.059033968	0.11012	0.03793613	0.04957	0.059033968	0.11011	-5.256	0.39506	T	0.3493390781858841	0.44665	0.093	0.14108	B	.	.	0.478457	0.08477	5.239	0.99599511188636891	0.74101	0.00455	0.02200	N	AEFDBI	0.023300	0.01279	N	-0.856956854539942	0.11880	0.5757883	-0.946628518479765	0.11002	0.5577856	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.0625	104.16	139	chr7	47829595	.	G	A	104.16	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-3.103;DP=1031;ExcessHet=0;FS=113.804;InbreedingCoeff=-0.1373;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=0.014;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,13:88:99:.:.:114,0,1905:.	7	0	1	2
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	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	.	.	.	.	.	.	.	.	0.4375	1877.94	33	chr7	50368104	.	C	G	1877.94	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-4.104;DP=1523;ExcessHet=7.0302;FS=219.639;InbreedingCoeff=-0.6579;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=2.04;SOR=11.783	GT:AD:DP:GQ:PL	0/1:108,45:153:99:423,0,3097	1	0	7	2
chr7	50703832	50703832	G	A	exonic	GRB10	.	nonsynonymous SNV	GRB10:NM_001001549:exon2:c.C128T:p.A43V,GRB10:NM_001350814:exon5:c.C128T:p.A43V	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0358136293096	.	.	.	.	.	.	.	.	.	.	.	.	.	rs989071667	7.534e-06	8.893e-06	5.452e-06	9.637e-06	0.0005	4.04e-06	2.96e-06	0.0001	7.555e-05	0	2.238e-05	0	5.046e-05	0	0.0005	2.701e-06	0	2.32e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.181	0.22053	T	0.243	0.24193	T	0.0	0.11197	B	0.0	0.06944	B	0.172424	0.03121	N	2.164360	1	0.08975	N	0.345	0.11182	N	-1.48	0.81150	T	-0.08	0.16799	N	0.126	0.14622	-0.9189	0.45702	T	0.231	0.59682	T	10	0.049536496	0.04557	T	0.035814	0.56592	D	0.227	0.52620	0.062	0.00241	0.724913443104	0.72248	.	.	0.0278653676021	0.02857	0.229387104511	0.01923	T	0.313913	0.68563	T	-0.185311	0.22950	T	-0.407109	0.32559	T	0.0257428409841047	0.01371	T	0.447355	0.18281	T	0.028877666	0.02293	0.030930405	0.01613	0.028877666	0.02293	0.030930405	0.01612	-3.845	0.21478	T	.	.	0.083	0.20469	B	.;.;.;.;.	.;.;.;.;.	0.928747	0.13039	9.543	0.90344720915837295	0.19609	0.06199	0.12184	N	AEFDBIJ	0.045541	0.07460	N	-1.24358668118679	0.04384	0.1977709	-1.24092598762049	0.05267	0.25054	0.999997169038354	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.98	-0.0866	0.13015	0.013000	0.13206	-0.531000	0.08635	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1696:0.2929:0.3868:0.1508	1.966	0.03189	906	0.23090	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1848.43	34	chr7	50703832	.	G	A	1848.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.086;DP=544;ExcessHet=0;FS=0.565;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.557;SOR=0.751	GT:AD:DP:GQ:PL	0/1:87,81:168:99:1860,0,1954	9	0	1	0
chr7	73553638	73553638	A	C	exonic	BCL7B	.	nonsynonymous SNV	BCL7B:NM_001301061:exon2:c.T35G:p.V12G	.	532	983	5	2	0	9	0.00455696	.	.	.	2825746	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.0061901	.	.	.	.	.	.	.	.	0.0041878	109	26028	rs150783798	0.0173	0.0003	0.0182	0.0166	0.0234	0.0128	0.0112	0.0168	0.0146	0	.	.	.	0.0048	0.0234	0	0.0077	0.0156	0.0038	0.0038	0.0040	0.0037	0.0098	0.0036	0.0035	0.0076	0.0068	0.0010	0	0.0050	0.0110	0	0.0007	0.0238	0.0051	0.0085	0.0098	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.241	0.27197	.	.	.	.	.	.	.	0.005997807	0.00135	T	.	.	.	.	.	.	.	0.259504319725	0.25562	0.14090083166857592	0.14013	.	.	.	.	.	0.394278	0.75346	T	-0.831954	0.00004	T	-0.965487	0.00217	T	.	.	.	0.572443	0.20452	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.32005	B	.	.	0.464521	0.08344	5.092	0.63466116940903872	0.07231	0.00546	0.02508	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0869984702313369	0.16023	0.099367	0.02607	0	0.104858	0.03167	0	0.059349	0.00372	0	0.117559	0.03655	0	0.0519227	0.10831	0.429	0.429	0.15721	0.376000	0.20265	0.844000	0.22071	0.539000	0.25131	0.006000	0.17386	0.004000	0.18990	0.010000	0.09038	.	.	.	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	167.49	20	chr7	73553638	.	A	C	167.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=133;ExcessHet=0;FS=3.522;InbreedingCoeff=-0.0577;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.61;ReadPosRankSum=-0.231;SOR=2.303	GT:AD:DP:GQ:PL	0/1:4,5:9:99:179,0,135	9	0	1	0
chr7	74238987	74238987	G	A	exonic	RFC2	.	nonsynonymous SNV	RFC2:NM_001278792:exon7:c.C386T:p.A129V,RFC2:NM_001278793:exon7:c.C290T:p.A97V,RFC2:NM_002914:exon7:c.C593T:p.A198V,RFC2:NM_001278791:exon8:c.C392T:p.A131V,RFC2:NM_181471:exon8:c.C695T:p.A232V	.	424	1082	16	0	0	16	0.00733945	0.9777	0.756	.	736256	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.403	.	0.0011	0.00239617	0.0018	0.0004	0.0011	0	0	0.0012	0.0033	0.0071	0.0017917	277	154602	rs3135684	0.0014	0.0014	0.0012	0.0016	0.0069	0.0013	0.0013	0.0064	0.0063	0.0003	0.0014	0.0037	2.52e-05	5.617e-05	0.0026	0.0010	0.0015	0.0069	0.0010	0.0010	0.0010	0.0009	0.0070	0.0009	0.0008	0.0052	0.0045	0.0003	0	0.0014	0.0023	0.0002	0	0	0.0010	0.0024	0.0070	0.044	0.42783	D	0.028	0.57104	D	0.931	0.51899	P	0.534	0.48679	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.825	0.47900	L	0.77	0.49642	T	-3.94	0.73378	D	0.834	0.89242	-0.5659	0.66177	T	0.223	0.58716	T	10	0.018195033	0.00394	T	.	.	.	0.403	0.71636	.	.	0.825532700321	0.82388	0.8477203140357716	0.84733	0.583404679572	0.54052	0.747924089432	0.74140	T	0.194572	0.82435	T	-0.0842406	0.39022	T	0.109525	0.77543	D	0.0416452273646546	0.03989	T	0.932007	0.74652	D	0.7331378	0.79901	0.36640725	0.61970	0.7331378	0.79903	0.36640725	0.61970	-8.783	0.66289	D	.	.	0.838	0.80746	P	.;.;.	.;.;.	5.125572	0.85752	28.7	0.99835868848221943	0.91714	0.99460	0.96305	D	AEFGBI	0.919270	0.88955	D	0.627603835969429	0.74926	6.217	0.630138568989722	0.77141	6.622171	0.999999999952308	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	9.686000	0.97923	9.873000	0.82142	0.648000	0.52827	1.000000	0.71638	1.000000	0.68203	0.410000	0.27006	0.0:0.0:1.0:0.0	17.332	0.87157	889	0.27310	.;.;.	.	.	.	.	.	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	0.004028	0.000000	0.004076	0.002924	0.000000	0.000000	0.006098	0.003788	0.05	1341.43	33	chr7	74238987	.	G	A	1341.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.484;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=1.28;SOR=0.671	GT:AD:DP:GQ:PL	0/1:74,58:132:99:1353,0,1761	9	0	1	0
chr7	80671017	80671017	G	T	exonic	CD36	.	stopgain	CD36:NM_001289908:exon6:c.G742T:p.G248X,CD36:NM_001371080:exon7:c.G394T:p.G132X,CD36:NM_001127444:exon8:c.G859T:p.G287X,CD36:NM_001289909:exon8:c.G679T:p.G227X,CD36:NM_001289911:exon8:c.G631T:p.G211X,CD36:NM_001127443:exon9:c.G859T:p.G287X,CD36:NM_000072:exon10:c.G859T:p.G287X,CD36:NM_001001547:exon10:c.G859T:p.G287X,CD36:NM_001001548:exon10:c.G859T:p.G287X,CD36:NM_001371074:exon10:c.G859T:p.G287X,CD36:NM_001371075:exon10:c.G859T:p.G287X,CD36:NM_001371077:exon10:c.G859T:p.G287X,CD36:NM_001371078:exon10:c.G859T:p.G287X,CD36:NM_001371079:exon10:c.G757T:p.G253X,CD36:NM_001371081:exon10:c.G394T:p.G132X	Platelet glycoprotein IV deficiency, Autosomal recessive	6	1513	3	0	0	3	0.000990426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.239e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs747098468	1.3e-05	1.3e-05	1.226e-05	1.376e-05	0.0005	8.32e-06	6.7e-06	0.0001	7.546e-05	0	0	0	0	0	0.0005	0	0.0001	9.276e-05	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	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.862	0.87049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458406	0.92855	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.;.;.;Recessive;Recessive;Recessive;.	High;High;.;.;.;High;High;High;.	10.853454	0.99862	50	0.99481625960550024	0.66904	0.98449	0.82893	D	AEFCI	0.488514	0.52681	N	1.24987361927443	0.99875	29.28013	1.11785793209549	0.99874	29.23881	0.999999999962957	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.85	5.85	0.93663	9.352000	0.96480	11.902000	0.99384	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.777	0.96393	971	0.05719	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	417.43	39	chr7	80671017	.	G	T	417.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.109;DP=359;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.079;SOR=0.871	GT:AD:DP:GQ:PL	0/1:23,18:41:99:429,0,568	9	0	1	0
chr7	80674068	80674068	T	C	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001289908:exon10:c.T1223C:p.I408T,CD36:NM_001371080:exon11:c.T875C:p.I292T,CD36:NM_001127444:exon12:c.T1340C:p.I447T,CD36:NM_001289909:exon12:c.T1160C:p.I387T,CD36:NM_001289911:exon12:c.T1112C:p.I371T,CD36:NM_001127443:exon13:c.T1340C:p.I447T,CD36:NM_000072:exon14:c.T1340C:p.I447T,CD36:NM_001001547:exon14:c.T1340C:p.I447T,CD36:NM_001001548:exon14:c.T1340C:p.I447T,CD36:NM_001371074:exon14:c.T1340C:p.I447T,CD36:NM_001371075:exon14:c.T1340C:p.I447T,CD36:NM_001371077:exon14:c.T1340C:p.I447T,CD36:NM_001371078:exon14:c.T1340C:p.I447T,CD36:NM_001371079:exon14:c.T1238C:p.I413T,CD36:NM_001371081:exon14:c.T875C:p.I292T	Platelet glycoprotein IV deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.0128448116811	.	.	8.482e-06	0	0	0	0	1.549e-05	0	0	3.84e-05	1	26028	rs751164081	0	6.849e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.35726	T	0.368	0.45961	T	0.002	0.09854	B	0.007	0.12992	B	0.831605	0.09101	N	0.930341	1	0.08975	N	1.735	0.44892	L	-0.65	0.72237	T	-2.1	0.50012	N	0.081	0.14763	-0.7991	0.55197	T	0.299	0.66998	T	9	0.108909905	0.20295	T	0.012845	0.31760	T	0.209	0.49871	0.501	0.59304	0.301455362545	0.29754	0.7503614139139723	0.74983	3.66727572043E-4	0.00038	0.393968701363	0.24227	T	0.147103	0.48503	T	-0.0681944	0.41614	T	-0.335733	0.40826	T	0.120847053825855	0.14512	T	0.675632	0.28664	T	0.0584413	0.11757	0.07565062	0.16678	0.0584413	0.11756	0.07565062	0.16678	-4.668	0.34039	T	0.07566096464035185	0.03389	0.129	0.31355	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.531888	0.09008	5.788	0.93130191544615704	0.22770	0.10590	0.16054	N	AEFGCI	0.113178	0.22341	N	-0.576903094426341	0.19647	1.029943	-0.570190002599607	0.20272	1.091433	0.506391076870093	0.20984	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.84	3.4	0.38031	-0.530000	0.06266	-3.215000	0.02964	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.1265:0.2116:0.0:0.6619	4.934	0.13281	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	92.44	144	chr7	80674068	.	T	C	92.44	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-5.327;DP=847;ExcessHet=0.7463;FS=134.406;InbreedingCoeff=-0.1534;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.23;ReadPosRankSum=1.37;SOR=10.061	GT:AD:DP:GQ:PL	0/1:100,34:134:3:3,0,1579	7	0	3	0
chr7	85022412	85022412	C	T	exonic	SEMA3D	.	nonsynonymous SNV	SEMA3D:NM_152754:exon12:c.G1393A:p.D465N,SEMA3D:NM_001384900:exon13:c.G1393A:p.D465N,SEMA3D:NM_001384901:exon14:c.G1393A:p.D465N,SEMA3D:NM_001384902:exon15:c.G1393A:p.D465N,SEMA3D:NM_001384903:exon15:c.G1393A:p.D465N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0195002896277	.	.	2.474e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs202240375	1.645e-05	1.71e-05	4.092e-06	2.892e-05	0.0002	1.113e-05	9.35e-06	0.0001	0.0001	2.998e-05	0	0	2.521e-05	0	0	3.604e-06	0	0.0002	6.585e-06	6.569e-06	1.287e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.034	0.44029	D	0.033	0.53072	D	1.0	0.90584	D	0.903	0.64103	P	0.000003	0.62929	D	0.135696	1	0.81001	D	1.465	0.36909	L	1.87	0.24085	T	-3.82	0.71997	D	0.418	0.45803	-0.8997	0.48024	T	0.163	0.49881	T	10	0.49144182	0.61015	T	0.019	0.41878	T	0.252	0.56159	0.583	0.70990	0.789584032943	0.78763	0.4644601824722659	0.46365	0.161295741042	0.18205	0.630487799644	0.57215	T	0.112584	0.42896	T	-0.29326	0.09312	T	-0.422355	0.30805	T	0.779456615447998	0.45016	D	0.939506	0.77228	D	0.32477906	0.55040	0.30308613	0.56340	0.32477906	0.55040	0.30308613	0.56339	-6.207	0.47980	T	0.1986648698083317	0.26314	0.150	0.33086	B	.	.	5.255063	0.88230	29.5	0.9992908295041214	0.99279	0.94124	0.60185	D	AEFDGCI	0.728646	0.67661	D	0.678389890899779	0.78218	6.827146	0.654864910448012	0.78973	6.985353	0.999999999999841	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.67	5.67	0.87673	4.085000	0.57380	7.673000	0.64890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	19.776	0.96389	913	0.21160	Sema domain|Sema domain|Sema 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	.	.	.	.	.	.	.	.	0.05	1270.43	35	chr7	85022412	.	C	T	1270.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.305;DP=438;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=1.98;SOR=0.588	GT:AD:DP:GQ:PL	0/1:69,57:126:99:1282,0,1609	9	0	1	0
chr7	87375925	87375925	C	T	exonic	CROT	.	nonsynonymous SNV	CROT:NM_021151:exon9:c.C848T:p.P283L,CROT:NM_001143935:exon10:c.C932T:p.P311L	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.713	0.0889338617051	0.0003	0.00119808	0.0011	9.641e-05	0.0008	0	0	0.0002	0.0011	0.0066	0.0009508	147	154602	rs144536594	0.0006	0.0006	0.0004	0.0008	0.0069	0.0006	0.0006	0.0064	0.0062	5.986e-05	0.0007	0.0042	0	0	0.0007	5.761e-05	0.0012	0.0069	0.0005	0.0005	0.0003	0.0006	0.0083	0.0004	0.0004	0.0063	0.0056	2.415e-05	0	0.0009	0.0032	0	0	0	0.0001	0	0.0083	0.002	0.72154	D	0.0	0.92824	D	0.997	0.70673	D	0.977	0.73820	D	0.000000	0.84330	D	0.046287	1	0.81001	D	3.505	0.92816	H	-2.63	0.90083	D	-3.51	0.68298	D	0.657	0.66700	0.976	0.96801	D	0.896	0.96558	D	10	0.014008164	0.00295	T	0.088934	0.75228	D	0.713	0.89786	.	.	0.862574289079	0.86123	0.6719087945489178	0.67128	0.20218460776	0.22641	0.454561173916	0.32568	T	0.65834	0.89716	D	-0.0564136	0.43466	T	0.149079	0.80125	D	0.131771234312643	0.15545	T	0.944006	0.78847	D	0.7401903	0.80303	0.7111707	0.82961	0.7401903	0.80304	0.7111707	0.82962	-3.278	0.13455	T	.	.	0.292	0.54954	B	.;.;.	.;.;.	4.794385	0.77832	26.8	0.99868185308254043	0.94637	0.89417	0.49869	D	AEFDGBHCI	0.820646	0.74139	D	0.901491547235318	0.91832	11.08848	0.813148032048902	0.90691	10.52442	0.99999999999714	0.74766	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.48	5.48	0.80675	6.699000	0.74437	7.729000	0.67687	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	0.0:1.0:0.0:0.0	19.711	0.96091	489	0.76795	.;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase 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	0.000000	0.011364	0.05	725.43	34	chr7	87375925	.	C	T	725.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.651;DP=372;ExcessHet=0;FS=0.97;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.579;SOR=0.527	GT:AD:DP:GQ:PL	0/1:35,31:66:99:737,0,956	9	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	.	.	.	.	.	.	.	.	0.4	764.96	190	chr7	93102964	.	C	G	764.96	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-6.623;DP=1746;ExcessHet=10.3881;FS=128.174;InbreedingCoeff=-0.6656;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=-0.095;SOR=11.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:151,32:193:99:.:.:271,0,5196:.	2	0	8	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	.	.	.	.	.	.	.	.	0.5	1530.03	190	chr7	93102965	.	C	G	1530.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.233;DP=1910;ExcessHet=22.563;FS=128.174;InbreedingCoeff=-0.9987;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.483;SOR=11.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:151,42:193:99:.:.:357,0,5168:.	0	0	10	0
chr7	100029881	100029881	C	G	exonic	ZKSCAN1	.	nonsynonymous SNV	ZKSCAN1:NM_001346579:exon4:c.C601G:p.P201A,ZKSCAN1:NM_003439:exon4:c.C601G:p.P201A,ZKSCAN1:NM_001346580:exon5:c.C493G:p.P165A,ZKSCAN1:NM_001346581:exon5:c.C601G:p.P201A,ZKSCAN1:NM_001287054:exon6:c.C493G:p.P165A	.	424	1052	44	2	0	48	0.0223048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	0.0059	0.00519169	0.0063	0.0009	0.0035	0	0.0011	0.0083	0.0077	0.0091	0.0062677	969	154602	rs148669042	0.0080	0.0080	0.0077	0.0083	0.0269	0.0079	0.0079	0.0234	0.0221	0.0011	0.0040	0.0220	5.038e-05	0.0011	0.0269	0.0082	0.0093	0.0121	0.0055	0.0055	0.0060	0.0050	0.0133	0.0052	0.0051	0.0107	0.0097	0.0012	0.0011	0.0038	0.0141	0.0002	0.0007	0.0442	0.0086	0.0076	0.0133	0.011	0.55530	D	0.145	0.35970	T	0.99	0.63424	D	0.824	0.59271	P	0.003763	0.34511	N	0.134244	0.93483	0.81001	D	2.14	0.59869	M	3.14	0.08194	T	-2.82	0.61129	D	0.386	0.42737	-1.0091	0.27198	T	0.016	0.06711	T	10	0.005372405	0.00118	T	.	.	.	0.112	0.31546	.	.	0.415459976574	0.41164	0.15639711510048188	0.15560	0.474146516114	0.46608	0.420085132122	0.27848	T	0.216012	0.57806	T	-0.535217	0.00358	T	-0.533617	0.18927	T	0.0379089392025617	0.03317	T	0.79512	0.43772	T	0.06449126	0.13687	0.07915261	0.17794	0.06449126	0.13687	0.07915261	0.17793	-7.57	0.58101	D	.	.	0.092	0.21315	B	.;.;.	.;.;.	3.067730	0.41219	21.3	0.99258197341911825	0.57121	0.63428	0.32086	D	AEFDBIJ	0.102707	0.20596	N	0.0266498543013345	0.43068	2.60718	0.00231240024793541	0.39823	2.367091	0.999999968925059	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	4.45	0.53365	0.767000	0.26238	2.758000	0.34584	0.599000	0.40250	0.244000	0.24789	1.000000	0.68203	0.043000	0.14563	0.0:0.9107:0.0:0.0893	11.028	0.46973	121	0.95159	.;.;.	.	.	.	.	rs148669042	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023666	0.010101	0.024457	0.032164	0.000000	0.034483	0.021341	0.022727	0.05	1591.43	34	chr7	100029881	.	C	G	1591.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=434;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-1.028;SOR=0.689	GT:AD:DP:GQ:PL	0/1:60,64:124:99:1603,0,1320	9	0	1	0
chr7	100098624	100098624	C	T	exonic	MCM7	.	nonsynonymous SNV	MCM7:NM_001278595:exon5:c.G146A:p.R49Q,MCM7:NM_182776:exon5:c.G146A:p.R49Q,MCM7:NM_005916:exon6:c.G674A:p.R225Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.0109383014801	.	0.000599042	0.0002	0	0	0	0	5.994e-05	0	0.0015	0.0002135	33	154602	rs146605550	0.0001	0.0001	8.303e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0.0001	3.826e-05	0	0	0.0002	2.158e-05	0.0001	0.0018	0.0001	0.0001	7.711e-05	0.0002	0.0012	7.574e-05	6.279e-05	0.0005	0.0004	2.407e-05	0	0.0003	0	0	0	0	7.35e-05	0.0005	0.0012	0.002	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.964	0.71005	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.24	0.89678	M	3.65	0.04267	T	-3.37	0.69835	D	0.709	0.71232	-1.1809	0.00356	T	0.053	0.22655	T	10	0.041270673	0.02767	T	0.010938	0.28041	T	0.233	0.53499	.	.	0.54456359225	0.54111	0.47394988494713836	0.47313	0.600637925013	0.55139	0.707589626312	0.68244	T	0.414452	0.76800	T	-0.255197	0.13467	T	-0.15258	0.59013	T	0.310344457626343	0.25428	T	0.973703	0.91107	D	0.7951421	0.83597	0.8233885	0.89756	0.7951421	0.83599	0.8233885	0.89757	-11.994	0.88803	D	0.6816343820813098	0.75810	0.547	0.78676	A	.;.;.;.;.	.;.;.;.;.	5.553289	0.92073	32	0.99955008312140581	0.99969	0.89552	0.50089	D	AEFBHCI	0.714252	0.66679	D	0.724052164749639	0.81208	7.46893	0.670023867127301	0.80110	7.226426	0.999999999999887	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.97	4.97	0.65419	5.428000	0.66226	7.647000	0.63496	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	15.784	0.78060	187	0.92701	.;.;.;MCM OB domain;MCM OB 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	0.003788	0.05	2143.43	35	chr7	100098624	.	C	T	2143.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.97;DP=549;ExcessHet=0;FS=1.158;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-1.702;SOR=0.796	GT:AD:DP:GQ:PL	0/1:85,94:179:99:2155,0,1751	9	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	.	.	.	.	.	.	.	.	0.5	6711.04	102	chr7	100175805	.	G	C	6711.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.794;DP=1021;ExcessHet=22.563;FS=312.371;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=1.2;SOR=11.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,19:89:99:0|1:100175805_G_C:327,0,2442:100175805	0	0	10	0
chr7	100220255	100220255	C	T	exonic	PVRIG	.	nonsynonymous SNV	PVRIG:NM_024070:exon3:c.C260T:p.T87M	.	419	1058	42	3	0	48	0.0221811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0056	0.00539137	0.0118	0.0024	0.0084	0	0.0065	0.0159	0.0040	0.0115	0.0050905	787	154602	rs141119008	0.0082	0.0081	0.0079	0.0085	0.0206	0.0081	0.0080	0.0174	0.0162	0.0012	0.0038	0.0220	5.337e-05	0.0012	0.0206	0.0084	0.0097	0.0126	0.0054	0.0054	0.0059	0.0048	0.0130	0.0051	0.0050	0.0105	0.0095	0.0011	0.0011	0.0033	0.0141	0.0002	0.0007	0.0408	0.0085	0.0071	0.0130	0.02	0.49613	D	0.072	0.43344	T	0.423	0.35444	B	0.131	0.32951	B	.	.	.	.	0.999992	0.08975	N	0.345	0.11182	N	0.86	0.46777	T	-1.6	0.38540	N	0.186	0.20262	-1.0587	0.12083	T	0.038	0.16376	T	9	0.0037819445	0.00071	T	.	.	.	0.024	0.04979	.	.	0.126345400529	0.12197	0.4692787638282187	0.46846	0.127832058936	0.14418	0.452407717705	0.32272	T	0.007966	0.07338	T	-0.617701	0.00114	T	-0.649673	0.08977	T	0.0105413282560264	0.00146	T	0.276672	0.04749	T	0.026393538	0.01691	0.061903115	0.12027	0.026393538	0.01691	0.061903115	0.12027	-6.774	0.52365	T	.	.	0.113	0.22318	B	.	.	-0.969443	0.00816	0.027	0.87147751602030721	0.17021	0.02800	0.07520	N	AEFDBCIJ	0.029109	0.02687	N	-1.63495431186654	0.01100	0.04775162	-1.77743499817207	0.00834	0.03725871	0.99999982209636	0.74766	0.660377	0.49826	0	0.672317	0.65289	0	0.696353	0.63694	0	0.508809	0.08732	0	.	.	2.78	-5.57	0.02321	-4.778000	0.00217	-3.665000	0.02620	-1.816000	0.00606	0.000000	0.06391	0.000000	0.08366	0.205000	0.22041	0.3123:0.3941:0.162:0.1317	1.981	0.03217	290	0.88477	.	.	.	.	.	rs141119008	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025484	0.010417	0.025886	0.032353	0.000000	0.034483	0.028302	0.019084	0.05	1149.43	44	chr7	100220255	.	C	T	1149.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.738;DP=420;ExcessHet=0;FS=1.119;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.75;MQRankSum=1.63;QD=19.16;ReadPosRankSum=0.107;SOR=0.493	GT:AD:DP:GQ:PL	0/1:17,43:60:99:1161,0,299	9	0	1	0
chr7	100553435	100553435	C	G	exonic	AGFG2	.	nonsynonymous SNV	AGFG2:NM_006076:exon4:c.C520G:p.P174A	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.016091638665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.789e-06	4.788e-06	6.806e-06	2.75e-06	0.0003	1.99e-06	1.28e-06	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	8.993e-07	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.999	0.77913	D	0.994	0.82059	D	0.000075	0.52346	N	0.172193	0.805194	0.81001	D	2.975	0.85398	M	1.65	0.27650	T	-6.02	0.89684	D	0.219	0.24510	-0.8816	0.49634	T	0.163	0.49864	T	10	0.30075783	0.47621	T	0.016092	0.37172	T	0.148	0.39182	.	.	0.495839474393	0.49220	0.5074669165356606	0.50668	0.391350056189	0.40338	0.425648927689	0.28613	T	0.134365	0.46557	T	-0.187997	0.22554	T	-0.507821	0.21539	T	0.985331416130066	0.76359	D	0.918808	0.70803	D	0.21701206	0.44174	0.25080892	0.50679	0.21701206	0.44174	0.25080892	0.50678	-8.795	0.66368	D	.	.	0.069	0.03162	B	.	.	3.215591	0.43793	21.8	0.99484861258174428	0.67124	0.82599	0.41804	D	AEFBHCI	0.151520	0.27602	N	0.440081262901289	0.63642	4.602006	0.355776246646838	0.58855	4.058958	0.999075858364183	0.38370	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.06	3.17	0.35510	2.061000	0.41030	1.353000	0.25823	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.966000	0.53164	0.156:0.6934:0.1505:0.0	9.966	0.40894	689	0.59000	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2031.14	34	chr7	100553435	.	C	G	2031.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.926;DP=440;ExcessHet=0.2348;FS=0.603;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.317;SOR=0.756	GT:AD:DP:GQ:PL	0/1:33,56:89:99:1323,0,703	8	0	2	0
chr7	100578739	100578739	C	T	exonic	LRCH4	.	nonsynonymous SNV	LRCH4:NM_001289934:exon5:c.G646A:p.V216I,LRCH4:NM_002319:exon5:c.G646A:p.V216I	.	415	1068	36	3	0	42	0.0192837	.	.	.	722191	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.016	.	0.0061	0.00539137	0.0065	0.0012	0.0045	0.0005	0.0011	0.0083	0.0067	0.0095	0.0065458	1012	154602	rs52833865	0.0082	0.0082	0.0079	0.0086	0.0183	0.0081	0.0081	0.0154	0.0144	0.0011	0.0046	0.0272	0.0005	0.0011	0.0183	0.0083	0.0101	0.0119	0.0056	0.0056	0.0061	0.0051	0.0112	0.0053	0.0052	0.0088	0.0079	0.0012	0	0.0045	0.0182	0.0008	0.0007	0.0240	0.0086	0.0071	0.0112	0.674	0.04508	T	0.97	0.02484	T	0.005	0.12996	B	0.015	0.17295	B	0.005035	0.33162	N	0.284157	1	0.81001	D	-1.16	0.00885	N	1.6	0.28604	T	-0.17	0.09627	N	0.174	0.18649	-1.0099	0.26949	T	0.013	0.05033	T	9	0.0044373274	0.00091	T	.	.	.	0.016	0.02506	.	.	0.192905019026	0.18896	0.4818438412615061	0.48104	0.508704530814	0.49020	0.35497829318	0.18653	T	0.032921	0.22695	T	-0.691137	0.00041	T	-0.756152	0.03253	T	0.00214425450445367	0.00022	T	0.80342	0.45053	T	0.010749503	0.00010	0.02109572	0.00173	0.010749503	0.00010	0.02109572	0.00173	-8.727	0.65923	D	.	.	0.069	0.03026	B	.	.	0.199449	0.05846	2.285	0.71578719883934938	0.09677	0.18084	0.20113	N	AEFBCI	0.073505	0.14704	N	-1.13517341753917	0.06028	0.2763963	-0.977898119563235	0.10282	0.5168703	0.98300840906797	0.30489	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.66	0.518	0.16228	-0.228000	0.09119	0.830000	0.21939	-0.873000	0.02525	0.000000	0.06391	0.943000	0.28828	0.864000	0.41028	0.0:0.6194:0.0:0.3806	8.271	0.31002	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.017120	0.005051	0.021739	0.005882	0.000000	0.043103	0.018293	0.018939	0.05	800.43	33	chr7	100578739	.	C	T	800.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=2.4;SOR=0.78	GT:AD:DP:GQ:PL	0/1:36,32:68:99:812,0,831	9	0	1	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	2147.25	93	chr7	100773851	.	A	*	2147.25	.	AC=11;AF=0.55;AN=20;DP=894;ExcessHet=0.0952;FS=0;InbreedingCoeff=0.3407;MLEAC=11;MLEAF=0.55;MQ=60;QD=2.73;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,83:83:99:1|1:100773849_CCAT_C:3715,250,0:100773849	2	3	5	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2395.99	585	chr7	100952945	.	C	*	2395.99	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.589;DP=6147;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=7;MLEAF=0.35;MQ=58.41;MQRankSum=-8.207;QD=0.39;ReadPosRankSum=3.15;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:375,126:561:99:0|1:100952784_C_A:4162,0,15367:100952784	3	0	7	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6958.44	427	chr7	100953156	.	C	*	6958.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.64;DP=5266;ExcessHet=22.563;FS=8.617;InbreedingCoeff=-1;MLEAC=7;MLEAF=0.35;MQ=57.64;MQRankSum=-15.09;QD=1.34;ReadPosRankSum=1.11;SOR=1.233	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:359,133:532:99:0|1:100953098_G_C:4504,0,14674:100953098	3	0	7	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	1072.04	423	chr7	100953158	.	G	*	1072.04	.	AC=9;AF=0.45;AN=20;BaseQRankSum=3.81;DP=5175;ExcessHet=22.563;FS=12.462;InbreedingCoeff=-1;MLEAC=9;MLEAF=0.45;MQ=57.63;MQRankSum=-15.35;QD=0.21;ReadPosRankSum=1.34;SOR=1.511	GT:AD:DP:GQ:PL	0/1:358,125:521:99:4171,0,14656	1	0	9	0
chr7	101000293	101000293	A	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A9730G:p.T3244A	.	331	1174	17	0	0	17	0.00718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0147554947816	.	.	0.0019	0	0	0	0	0.0005	0.0042	0.0046	3.84e-05	1	26028	rs767546340	5.789e-06	0.0009	2.856e-06	8.802e-06	0.0002	2.49e-06	1.8e-06	4.119e-05	2.888e-05	0	0	0	0	0	0.0002	0	0	8.97e-05	6.57e-06	0.0007	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.505	0.11004	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.81	0.10975	T	-1.17	0.29933	N	0.089	0.12913	-0.9200	0.45554	T	0.012	0.04700	T	6	0.012117922	0.00262	T	0.014755	0.35085	T	0.020	0.03691	.	.	0.0297737177859	0.01360	0.09361338531329641	0.09293	.	.	0.541573524475	0.44668	T	0.007058	0.06479	T	-0.552468	0.00282	T	-0.733799	0.04157	T	0.0482062467348094	0.05180	T	0.216578	0.02710	T	0.09819249	0.23157	0.1203934	0.29054	0.09819249	0.23157	0.1203934	0.29053	-8.066	0.61519	D	.	.	0.149	0.32898	B	.;.	.;.	0.656210	0.10244	6.983	0.27641341100792455	0.01382	0.00275	0.01491	N	AEFBI	0.022379	0.01112	N	-1.02287317704867	0.08130	0.3801577	-1.20135753606827	0.05888	0.2818667	1.16875703740527E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.49644	0.08281	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	-0.918000	0.04130	-0.347000	0.09772	0.285000	0.18709	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006024	0.000000	0.005051	0.007576	0.000000	0.027778	0.010417	0.010870	0.05	1488.43	2277	chr7	101000293	.	A	G	1488.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.57;DP=11305;ExcessHet=0;FS=2.94;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.82;MQRankSum=6.67;QD=0.92;ReadPosRankSum=2.52;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1421,194:1615:99:0|1:101000293_A_G:1500,0,42565:101000293	9	0	1	0
chr7	101034592	101034592	C	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C3176T:p.T1059M	.	416	1069	37	0	0	37	0.0170115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	.	.	0.0067	0.0017	0.0048	0.0001	0.0009	0.0083	0.0088	0.0103	0.0057114	883	154602	rs144904263	0.0073	0.0083	0.0072	0.0075	0.0200	0.0072	0.0072	0.0170	0.0159	0.0013	0.0043	0.0176	2.534e-05	0.0011	0.0200	0.0077	0.0088	0.0088	0.0042	0.0063	0.0047	0.0037	0.0068	0.0039	0.0038	0.0063	0.0061	0.0009	0.0011	0.0024	0.0143	0	0.0006	0.0105	0.0068	0.0076	0.0051	0.012	0.54683	D	.	.	.	0.968	0.56581	D	0.105	0.31087	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.26	0.02538	T	-0.77	0.21429	N	0.047	0.01911	-0.8863	0.49248	T	0.004	0.01192	T	9	0.0051009655	0.00110	T	.	.	.	0.095	0.27398	.	.	0.0138822411134	0.00435	0.002995186224735075	0.00279	.	.	0.21727925539	0.01159	T	0.017352	0.14172	T	-0.692104	0.00041	T	-0.760963	0.03078	T	0.0075188941836622	0.00087	T	0.435556	0.11926	T	0.020548632	0.00617	0.035751507	0.02887	0.020548632	0.00616	0.035751507	0.02886	-6.792	0.52500	T	.	.	0.097	0.15743	B	.	.	0.283147	0.06599	3.091	0.37993982564826517	0.02536	0.00308	0.01632	N	AEFGBI	0.039571	0.05765	N	-1.39427633929123	0.02691	0.1191954	-1.57979180434879	0.01779	0.08096282	0.00153576149883892	0.08622	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	0.481	-0.962	0.09806	0.275000	0.18461	-9.209000	0.00852	-0.650000	0.04392	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3323:0.0:0.6677	5.534	0.16292	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	0.016913	0.005051	0.005435	0.045082	0.000000	0.043103	0.027439	0.011364	0.05556	9591.05	571	chr7	101034592	.	C	T	9591.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=5.21;DP=11223;ExcessHet=0;FS=1.225;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=59.42;MQRankSum=-3.786;QD=6.07;ReadPosRankSum=-0.541;SOR=0.724	GT:AD:DP:GQ:PL	0/1:1135,446:1581:99:9602,0,29066	8	0	1	1
chr7	102352069	102352069	G	C	exonic	SPDYE6	.	nonsynonymous SNV	SPDYE6:NM_001146210:exon4:c.C666G:p.D222E	.	628	887	7	0	0	7	0.00393038	.	.	.	2334523	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229213880	0.0020	0.0027	0.0019	0.0021	0.0171	0.0019	0.0019	0.0127	0.0112	0.0011	0.0027	0.0229	0	0.0002	0.0171	0.0012	0.0045	0.0028	0.0026	0.0035	0.0023	0.0029	0.0069	0.0024	0.0023	0.0057	0.0053	0.0004	0	0.0069	0.0316	0	0.0005	0.0388	0.0015	0.0089	0.0064	.	.	.	0.003	0.76473	D	0.956	0.54666	P	0.742	0.55764	P	.	.	.	.	.	.	.	2.855	0.82945	M	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.3683995	0.53283	T	.	.	.	.	.	.	.	0.0986583533028	0.09354	0.1795873168001415	0.17877	.	.	0.78449010849	0.79607	T	0.479663	0.80898	T	-0.0101359	0.50246	T	-0.252336	0.49585	T	.	.	.	0.929107	0.73907	D	0.20371732	0.42458	0.34103224	0.59848	0.20371732	0.42458	0.34103224	0.59848	-10.334	0.75887	D	.	.	0.876	0.81212	P	.	.	2.753762	0.36104	20.2	0.46087263666524492	0.03665	0.07735	0.13736	N	AEFI	.	.	.	.	.	.	.	.	.	7.56217457502011E-5	0.04552	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0828504	0.18924	0.453	0.453	0.15851	0.380000	0.20331	2.112000	0.30666	0.235000	0.18186	0.991000	0.37257	1.000000	0.68203	0.316000	0.24877	.	.	.	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	171.43	39	chr7	102352069	.	G	C	171.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.291;DP=278;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=27.24;MQRankSum=0.067;QD=5.53;ReadPosRankSum=-1.633;SOR=0.418	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,9:31:99:0|1:102352069_G_C:183,0,691:102352069	9	0	1	0
chr7	108180279	108180279	T	C	exonic	NRCAM	.	nonsynonymous SNV	NRCAM:NM_001371182:exon20:c.A2690G:p.N897S,NRCAM:NM_001371137:exon21:c.A1838G:p.N613S,NRCAM:NM_001371180:exon21:c.A2477G:p.N826S,NRCAM:NM_001371148:exon22:c.A2477G:p.N826S,NRCAM:NM_001371151:exon22:c.A2747G:p.N916S,NRCAM:NM_001371164:exon22:c.A2450G:p.N817S,NRCAM:NM_001371170:exon22:c.A2477G:p.N826S,NRCAM:NM_001371176:exon22:c.A2747G:p.N916S,NRCAM:NM_001371178:exon22:c.A2747G:p.N916S,NRCAM:NM_001371181:exon22:c.A2738G:p.N913S,NRCAM:NM_001371125:exon23:c.A2450G:p.N817S,NRCAM:NM_001371134:exon23:c.A2744G:p.N915S,NRCAM:NM_001371136:exon23:c.A2747G:p.N916S,NRCAM:NM_001371143:exon23:c.A2450G:p.N817S,NRCAM:NM_001371152:exon23:c.A2747G:p.N916S,NRCAM:NM_001371157:exon23:c.A2747G:p.N916S,NRCAM:NM_001371175:exon23:c.A2747G:p.N916S,NRCAM:NM_001371177:exon23:c.A2738G:p.N913S,NRCAM:NM_001371179:exon23:c.A2477G:p.N826S,NRCAM:NM_005010:exon23:c.A2747G:p.N916S,NRCAM:NM_001193583:exon24:c.A2738G:p.N913S,NRCAM:NM_001193584:exon24:c.A2738G:p.N913S,NRCAM:NM_001371119:exon24:c.A2738G:p.N913S,NRCAM:NM_001371122:exon24:c.A2738G:p.N913S,NRCAM:NM_001371124:exon24:c.A2738G:p.N913S,NRCAM:NM_001371129:exon24:c.A2738G:p.N913S,NRCAM:NM_001371130:exon24:c.A2747G:p.N916S,NRCAM:NM_001371133:exon24:c.A2747G:p.N916S,NRCAM:NM_001371135:exon24:c.A2738G:p.N913S,NRCAM:NM_001371140:exon24:c.A2738G:p.N913S,NRCAM:NM_001371142:exon24:c.A2450G:p.N817S,NRCAM:NM_001371145:exon24:c.A2738G:p.N913S,NRCAM:NM_001371146:exon24:c.A2738G:p.N913S,NRCAM:NM_001371147:exon24:c.A2450G:p.N817S,NRCAM:NM_001371150:exon24:c.A2765G:p.N922S,NRCAM:NM_001371154:exon24:c.A2738G:p.N913S,NRCAM:NM_001371158:exon24:c.A2738G:p.N913S,NRCAM:NM_001371159:exon24:c.A2765G:p.N922S,NRCAM:NM_001371160:exon24:c.A2777G:p.N926S,NRCAM:NM_001371171:exon24:c.A2747G:p.N916S,NRCAM:NM_001371172:exon24:c.A2738G:p.N913S,NRCAM:NM_001371174:exon24:c.A2765G:p.N922S,NRCAM:NM_001037132:exon25:c.A2795G:p.N932S,NRCAM:NM_001193582:exon25:c.A2795G:p.N932S,NRCAM:NM_001371123:exon25:c.A2795G:p.N932S,NRCAM:NM_001371126:exon25:c.A2738G:p.N913S,NRCAM:NM_001371127:exon25:c.A2792G:p.N931S,NRCAM:NM_001371132:exon25:c.A2738G:p.N913S,NRCAM:NM_001371138:exon25:c.A2795G:p.N932S,NRCAM:NM_001371139:exon25:c.A2738G:p.N913S,NRCAM:NM_001371141:exon25:c.A2738G:p.N913S,NRCAM:NM_001371149:exon25:c.A2795G:p.N932S,NRCAM:NM_001371156:exon25:c.A2795G:p.N932S,NRCAM:NM_001371161:exon25:c.A2795G:p.N932S,NRCAM:NM_001371162:exon25:c.A2738G:p.N913S,NRCAM:NM_001371166:exon25:c.A2738G:p.N913S,NRCAM:NM_001371167:exon25:c.A2738G:p.N913S,NRCAM:NM_001371169:exon25:c.A2795G:p.N932S,NRCAM:NM_001371173:exon25:c.A2795G:p.N932S,NRCAM:NM_001371128:exon26:c.A2795G:p.N932S,NRCAM:NM_001371131:exon26:c.A2795G:p.N932S,NRCAM:NM_001371144:exon26:c.A2795G:p.N932S,NRCAM:NM_001371153:exon26:c.A2795G:p.N932S,NRCAM:NM_001371155:exon26:c.A2738G:p.N913S,NRCAM:NM_001371163:exon26:c.A2738G:p.N913S,NRCAM:NM_001371165:exon26:c.A2738G:p.N913S,NRCAM:NM_001371168:exon26:c.A2795G:p.N932S	.	.	.	.	.	.	.	.	.	.	.	2356578	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.465	0.026708380174	.	.	8.241e-05	9.617e-05	8.642e-05	0.0007	0	2.999e-05	0	0	6.47e-05	10	154602	rs199867432	4.925e-05	4.925e-05	5.581e-05	4.263e-05	0.0002	3.992e-05	3.669e-05	7.712e-05	5.305e-05	0.0002	8.944e-05	0	0.0001	0	0.0002	4.317e-05	9.934e-05	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.167e-05	6.724e-05	0.0001	9.935e-05	0.0002	0	0	0	0.0002	0	0	0.0001	0.0005	0	0.012	0.54683	D	0.006	0.70582	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.71	0.79292	M	0.11	0.61208	T	-4.05	0.74504	D	0.735	0.81559	-0.1459	0.79018	T	0.404	0.75437	T	10	0.590289	0.66341	D	0.026708	0.49594	D	0.465	0.76089	.	.	0.765792700882	0.76365	0.8648142440309382	0.86445	0.318620883325	0.34082	0.620376229286	0.55782	T	0.54738	0.84612	D	-0.201464	0.20594	T	-0.218298	0.52901	T	0.312669605016708	0.25523	T	0.948805	0.80311	D	0.33950803	0.56240	0.32346222	0.58277	0.33950803	0.56240	0.32346222	0.58277	-11.131	0.82977	D	.	.	0.605	0.71546	P	.;.;.;.;.;.	.;.;.;.;.;.	4.500296	0.70384	25.5	0.9989048190718014	0.96436	0.98009	0.78839	D	AEFDBI	0.750914	0.69189	D	0.667798188665547	0.77524	6.691462	0.664769411246713	0.79714	7.141253	0.999999999169204	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	6.274000	0.72607	6.175000	0.54547	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	15.706	0.77337	685	0.59416	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	518.43	34	chr7	108180279	.	T	C	518.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.101;DP=374;ExcessHet=0;FS=0.982;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=0.069;SOR=0.559	GT:AD:DP:GQ:PL	0/1:33,26:59:99:530,0,718	9	0	1	0
chr7	123461503	123461503	G	A	exonic	IQUB	.	nonsynonymous SNV	IQUB:NM_001282855:exon11:c.C1861T:p.R621C,IQUB:NM_001321293:exon11:c.C1861T:p.R621C,IQUB:NM_178827:exon11:c.C1861T:p.R621C	.	436	1085	1	0	0	1	0.000460617	.	.	.	2393071	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.157	0.0355153577127	.	.	5.801e-05	0	0	0.0003	0	1.506e-05	0	0.0002	7.76e-05	12	154602	rs765950092	6.163e-05	6.225e-05	4.769e-05	7.57e-05	0.0003	5.099e-05	4.72e-05	0.0001	0.0001	0	0.0002	0	7.562e-05	0	0.0003	4.95e-05	6.633e-05	0.0002	1.319e-05	1.314e-05	1.289e-05	1.351e-05	0.0002	2.19e-06	8.2e-07	.	.	2.42e-05	0	0	0	0	0	0	0	0	0.0002	0.078	0.33923	T	0.101	0.38596	T	0.987	0.61912	D	0.528	0.48482	P	0.993198	0.08016	N	0.997318	1	0.08975	N	2.38	0.68558	M	1.78	0.25678	T	-2.36	0.52128	N	0.464	0.50056	-0.9970	0.30755	T	0.091	0.34928	T	10	0.30343926	0.47875	T	0.035515	0.56396	D	0.157	0.40909	0.417	0.45709	0.424073947737	0.42026	0.4299574477789291	0.42912	0.0561018571449	0.06195	0.243526190519	0.03117	T	0.065074	0.32597	T	-0.365826	0.03811	T	-0.471112	0.25397	T	0.109566401484652	0.13378	T	0.856914	0.54589	D	0.0643799	0.13653	0.05393401	0.09179	0.0643799	0.13652	0.05393401	0.09178	-2.003	0.03192	T	.	.	0.115	0.22861	B	.;.	.;.	2.640902	0.34361	19.61	0.99733812928185683	0.82975	0.16020	0.19193	N	AEFBI	0.423514	0.48907	N	0.0651932586361847	0.44843	2.751162	-0.0445030903082569	0.37730	2.213035	0.301313136645234	0.19192	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	5.94	5.94	0.96165	2.823000	0.47781	6.609000	0.56081	0.665000	0.62972	0.083000	0.22414	0.998000	0.33993	0.001000	0.02609	0.0:0.1171:0.5969:0.286	9.967	0.40905	563	0.71062	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	845.43	33	chr7	123461503	.	G	A	845.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.303;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.15;SOR=0.699	GT:AD:DP:GQ:PL	0/1:32,37:69:99:857,0,705	9	0	1	0
chr7	135617231	135617231	C	T	exonic	NUP205	.	nonsynonymous SNV	NUP205:NM_001329434:exon26:c.C2600T:p.T867I,NUP205:NM_015135:exon26:c.C3674T:p.T1225I	.	433	1078	11	0	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00585280614891	7.7e-05	0.000399361	0.0004	0	8.649e-05	0	0	0.0002	0	0.0017	0.0002975	46	154602	rs151283740	0.0002	0.0002	0.0002	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	4.478e-05	0.0011	0	0	0.0019	6.566e-05	0.0003	0.0024	0.0002	0.0002	6.425e-05	0.0003	0.0033	0.0001	0.0001	0.0021	0.0017	2.406e-05	0	0	0.0006	0	0	0.0034	0.0001	0.0005	0.0033	0.154	0.24277	T	0.058	0.46182	T	0.015	0.17086	B	0.035	0.22741	B	0.000000	0.84330	D	0.090581	0.999994	0.58761	D	1.39	0.34934	L	1.51	0.30937	T	-1.38	0.34198	N	0.507	0.53884	-1.0716	0.09065	T	0.041	0.17657	T	10	0.020202816	0.00462	T	0.005853	0.15221	T	0.086	0.25016	.	.	0.552920571966	0.54950	0.31477644667264676	0.31390	0.271769764214	0.29692	0.607507646084	0.53964	T	0.022777	0.17502	T	-0.3361	0.05662	T	-0.274575	0.47357	T	0.0195292823664273	0.00657	T	0.824018	0.48536	T	0.10651294	0.25186	0.14224301	0.33846	0.10651294	0.25186	0.14224301	0.33845	-3.682	0.19052	T	0.16994459818754665	0.21339	0.089	0.11941	B	.	.	2.820644	0.37159	20.4	0.99421419096816632	0.63790	0.94139	0.60230	D	AEFGBI	0.433161	0.49474	N	-0.081465596940068	0.38204	2.234127	0.164584360059121	0.47919	3.015102	0.999999039297117	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	4.890000	0.62869	1.807000	0.28930	0.599000	0.40250	1.000000	0.71638	0.933000	0.28592	0.997000	0.79791	0.0:0.8859:0.0:0.1141	10.832	0.45871	765	0.49814	.	.	.	.	.	.	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	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	702.43	34	chr7	135617231	.	C	T	702.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=367;ExcessHet=0;FS=1.03;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.646;SOR=0.965	GT:AD:DP:GQ:PL	0/1:28,30:58:99:714,0,589	9	0	1	0
chr7	140017700	140017700	G	A	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon11:c.G1211A:p.R404Q,TBXAS1:NM_001061:exon12:c.G1394A:p.R465Q,TBXAS1:NM_001314028:exon12:c.G1337A:p.R446Q,TBXAS1:NM_001166253:exon13:c.G1532A:p.R511Q,TBXAS1:NM_001166254:exon14:c.G1193A:p.R398Q,TBXAS1:NM_001130966:exon16:c.G1394A:p.R465Q	Ghosal hematodiaphyseal syndrome, Autosomal recessive	0	1489	32	1	0	34	0.0112882	.	.	.	587929	not_provided|not_specified|TBXAS1-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	0.00779722285529	0.0011	0.00139776	0.0020	0.0001	0.0020	0	0.0018	0.0025	0.0045	0.0021	0.001824	282	154602	rs41311778	0.0014	0.0014	0.0013	0.0014	0.0090	0.0013	0.0013	0.0070	0.0063	0.0002	0.0019	0.0050	7.558e-05	0.0021	0.0090	0.0012	0.0023	0.0019	0.0013	0.0014	0.0013	0.0014	0.0022	0.0012	0.0011	0.0016	0.0014	7.216e-05	0	0.0022	0.0061	0	0.0014	0.0102	0.0017	0.0024	0.0021	0.21	0.19639	T	0.637	0.07419	T	0.031	0.20130	B	0.015	0.17295	B	0.065881	0.21850	N	0.483473	1	0.08975	N	.	.	.	-0.24	0.66834	T	0.25	0.04456	N	0.128	0.17691	-0.9798	0.35048	T	0.077	0.30676	T	10	0.007707268	0.00175	T	0.007797	0.20694	T	0.040	0.10527	.	.	0.273503213844	0.26977	0.6146852025524998	0.61400	0.137519854837	0.15505	0.248660236597	0.03628	T	0.006446	0.05881	T	-0.467726	0.00878	T	-0.457862	0.26832	T	0.0109043994219762	0.00156	T	0.689031	0.29821	T	.	.	.	.	.	.	.	.	-4.345	0.28802	T	.	.	0.078	0.06803	B	.;.;.;.;.	.;.;.;.;.	0.838685	0.12104	8.655	0.96610486747485569	0.30441	0.02841	0.07592	N	AEFDBCI	0.125115	0.24148	N	-1.4376983823085	0.02315	0.1020869	-1.48100394523166	0.02500	0.1150909	0.999999994997579	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.69	-5.64	0.02269	0.670000	0.24838	-0.528000	0.08651	-0.113000	0.14837	0.006000	0.17386	0.000000	0.08366	0.253000	0.23340	0.6056:0.1043:0.1751:0.115	4.773	0.12537	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004536	0.005051	0.002717	0.008772	0.050000	0.008621	0.003049	0.000000	0.15	3098.43	40	chr7	140017700	.	G	A	3098.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.04;DP=436;ExcessHet=0;FS=0.719;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=20.79;ReadPosRankSum=0.653;SOR=0.835	GT:AD:DP:GQ:PL	1/1:1,68:69:99:2011,197,0	8	1	1	0
chr7	142063511	142063511	C	A	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon36:c.C4270A:p.P1424T,MGAM:NM_004668:exon36:c.C4270A:p.P1424T	.	424	1088	10	0	0	10	0.00457457	.	.	.	699890	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.924	.	0.0066	0.00259585	0.0073	0.0011	0.0026	0	0.0198	0.0098	0.0084	0.0031	0.0068887	1065	154602	rs185053832	0.0097	0.0097	0.0099	0.0095	0.0108	0.0096	0.0095	0.0107	0.0106	0.0013	0.0031	0.0073	5.043e-05	0.0171	0.0024	0.0108	0.0093	0.0031	0.0075	0.0076	0.0076	0.0075	0.0112	0.0072	0.0070	0.0105	0.0102	0.0016	0.0121	0.0035	0.0092	0	0.0184	0	0.0112	0.0095	0.0021	0.002	0.72154	D	0.002	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999672	0.48205	D	4.15	0.97575	H	-3.13	0.92829	D	-7.47	0.94958	D	0.935	0.94904	0.932	0.96136	D	0.906	0.96892	D	9	0.041749626	0.02858	T	.	.	.	0.924	0.98117	.	.	0.968639366473	0.96829	0.7952344949650757	0.79476	0.314917620909	0.33772	0.616810083389	0.55278	T	0.826896	0.95826	D	0.0869764	0.62847	D	0.362547	0.90798	D	0.096197229198094	0.11933	T	0.934107	0.84340	D	0.86951214	0.88823	0.81677973	0.89333	0.86951214	0.88824	0.81677973	0.89333	-13.011	0.89410	D	.	.	0.951	0.87017	P	.;.;.	.;.;.	4.458664	0.69369	25.4	0.9966564841761234	0.78266	0.99259	0.93576	D	AEFBI	0.872503	0.79439	D	0.851508806426223	0.89192	9.87237	0.67211760356626	0.80267	7.261131	0.999993569595763	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	4.12	0.47504	7.512000	0.80617	.	.	0.329000	0.19528	1.000000	0.71638	1.000000	0.68203	0.783000	0.37026	0.0:1.0:0.0:0.0	15.216	0.72960	.	.	.;.;.	.	.	.	.	.	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	0.002518	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.003788	0.1	4622.14	34	chr7	142063511	.	C	A	4622.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.042;DP=769;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.75;MQRankSum=0.204;QD=9.53;ReadPosRankSum=0.571;SOR=0.682	GT:AD:DP:GQ:PL	0/1:137,97:234:99:1965,0,3223	8	0	2	0
chr7	151071453	151071453	G	A	exonic	SLC4A2	.	nonsynonymous SNV	SLC4A2:NM_001199693:exon13:c.G2012A:p.R671Q,SLC4A2:NM_001199694:exon13:c.G1997A:p.R666Q,SLC4A2:NM_001199692:exon14:c.G2039A:p.R680Q,SLC4A2:NM_003040:exon14:c.G2039A:p.R680Q	.	407	1113	2	0	0	2	0.000897666	.	.	.	3596833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.476	0.237599229692	.	0.000199681	0.0002	0	0	0	0	5.345e-05	0	0.0012	0.0001423	22	154602	rs562416008	0.0001	0.0001	6.969e-05	0.0001	0.0013	8.744e-05	8.229e-05	0.0011	0.0011	0	4.48e-05	0	7.562e-05	0	0	2.069e-05	4.976e-05	0.0013	6.566e-05	6.561e-05	0	0.0001	0.0017	3.514e-05	2.615e-05	0.0008	0.0006	0	0	0	0	0	0	0	2.941e-05	0	0.0017	0.125	0.27310	T	0.254	0.23433	T	0.335	0.33330	B	0.112	0.31615	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	3.085	0.87354	M	-1.45	0.80899	T	-1.32	0.32991	N	0.561	0.58543	-0.2036	0.77577	T	0.408	0.75720	T	10	0.12158382	0.23052	T	0.237599	0.88551	D	0.476	0.76816	0.658	0.79585	0.846883271944	0.84541	0.8553680442539353	0.85499	1.42498533674	0.85687	0.67320984602	0.63295	T	0.465	0.80032	T	0.032803	0.56096	T	-0.0805988	0.64860	T	0.164188548922539	0.18176	T	0.839616	0.51418	T	0.109016694	0.25775	0.0923391	0.21757	0.109016694	0.25774	0.0923391	0.21756	-10.238	0.75998	D	.	.	0.095	0.15070	B	.;.;.;.	.;.;.;.	4.473360	0.69731	25.4	0.99885282009568976	0.96049	0.49037	0.28342	N	AEFDBCI	0.544536	0.55942	D	-0.0726887882599956	0.38594	2.262769	-0.0690236040024362	0.36678	2.137624	0.999999998862618	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.62	4.62	0.56946	1.226000	0.32167	4.509000	0.43640	0.672000	0.70159	0.001000	0.13787	1.000000	0.68203	0.447000	0.27828	0.1022:0.0:0.8978:0.0	8.564	0.32692	889	0.27310	Bicarbonate transporter, C-terminal;Bicarbonate transporter, 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	.	.	.	.	.	.	.	.	0.05	1261.43	35	chr7	151071453	.	G	A	1261.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.828;DP=498;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=0.265;SOR=0.82	GT:AD:DP:GQ:PL	0/1:72,58:130:99:1273,0,1569	9	0	1	0
chr7	151180968	151180968	C	T	exonic	ASB10	.	nonsynonymous SNV	ASB10:NM_001142459:exon3:c.G1075A:p.V359I,ASB10:NM_001142460:exon3:c.G1075A:p.V359I,ASB10:NM_080871:exon3:c.G1030A:p.V344I	Glaucoma 1, open angle, F	337	1168	15	2	0	19	0.00806794	.	.	.	1217971	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.175	.	0.0003	0.0205671	0.0144	0.0006	0.0010	0	0	0.0005	0.0172	0.1226	0.0082793	1280	154602	rs201566253	0.0044	0.0044	0.0024	0.0064	0.0685	0.0043	0.0042	0.0670	0.0664	0.0002	7.314e-05	0	0.0007	0.0001	0.0019	0.0002	0.0049	0.0685	0.0024	0.0024	0.0015	0.0033	0.0703	0.0022	0.0021	0.0641	0.0617	0.0003	0	6.533e-05	0	0.0002	0	0	0.0001	0.0009	0.0703	0.475	0.08917	T	0.686	0.18505	T	0.985	0.61118	D	0.486	0.51761	P	0.000031	0.55875	N	0.122857	0.959583	0.26180	N	0.27	0.09956	N	-0.31	0.68030	T	-0.49	0.18042	N	0.227	0.26354	-0.8513	0.51878	T	0.242	0.61071	T	10	0.0025051832	0.00038	T	.	.	.	0.175	0.44197	.	.	0.337868961071	0.33390	0.0969552435596108	0.09627	0.0568891413586	0.06287	0.655414581299	0.60755	T	0.01083	0.09734	T	-0.533977	0.00364	T	-0.487148	0.23689	T	0.0284593719318178	0.01756	T	0.792821	0.49290	T	0.02369536	0.01131	0.034526173	0.02536	0.028732017	0.02255	0.034526173	0.02535	-6.419	0.49657	T	.	.	0.145	0.33389	B	.;.;.	.;.;.	1.927288	0.24478	16.41	0.9793777323641083	0.37006	0.68740	0.33917	D	AEFDBHCI	0.100005	0.20118	N	0.000967980602212599	0.41900	2.514552	-0.0148498884879075	0.39044	2.309081	0.999462771702338	0.39843	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.12	4.24	0.49486	1.960000	0.40046	3.869000	0.40177	0.549000	0.26987	0.965000	0.33920	1.000000	0.68203	0.013000	0.09966	0.0:0.6944:0.1453:0.1603	6.877	0.23331	906	0.23090	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.014887	0.000000	0.002732	0.018072	0.100000	0.008621	0.003165	0.038168	0.05	1653.43	37	chr7	151180968	.	C	T	1653.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.54;DP=634;ExcessHet=0;FS=5.872;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-0.419;SOR=1.135	GT:AD:DP:GQ:PL	0/1:52,63:115:99:1665,0,1214	9	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	0.3	5577.98	367	chr7	152229940	.	A	G	5577.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-1.129;DP=2706;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=44.55;MQRankSum=0.883;QD=3.72;ReadPosRankSum=0.293;SOR=0.714	GT:AD:DP:GQ:PL	0/1:193,51:244:99:581,0,6542	4	0	6	0
chr7	152235831	152235831	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon16:c.G2755C:p.V919L	.	523	804	188	7	0	202	0.111602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	.	.	0.3064	0.3892	0.3854	0.3769	0.3614	0.2662	0.3017	0.2987	0.0009221	24	26028	rs111791757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	.	.	.	0.005	0.12996	B	0.006	0.12133	B	0.000997	0.40743	D	0.000000	0.909796	0.27531	N	1.04	0.26193	L	-1.76	0.83578	D	-0.87	0.23590	N	0.351	0.39254	-0.7817	0.56206	T	0.290	0.66182	T	10	0.001721412	0.00022	T	.	.	.	0.190	0.46781	.	.	.	.	0.3939079229526045	0.39305	1.16460324479	0.79582	0.551522254944	0.46072	T	0.082871	0.36927	T	-0.0536841	0.43886	T	-0.31489	0.43132	T	0.00291439180401243	0.00030	T	0.782522	0.41827	T	0.11401484	0.26920	0.058207095	0.10716	0.11401484	0.26920	0.058207095	0.10716	-2.714	0.07421	T	0.21301624123496365	0.28594	0.155	0.34361	B	.;.	.;.	2.476867	0.31934	18.89	0.93460886301440382	0.23247	0.88481	0.48429	D	AEFBI	0.274499	0.38967	N	-0.471234561374049	0.23027	1.233672	-0.289425091573026	0.28446	1.586133	2.17144164743047E-4	0.05997	0.736574	0.97449	0	0.732669	0.95671	0	0.601832	0.32385	0	0.756605	0.99741	0	.	.	5.0	3.05	0.34272	0.914000	0.28246	0.910000	0.22619	0.549000	0.26987	0.989000	0.36753	0.340000	0.24418	0.997000	0.79791	0.0:0.6447:0.2767:0.0786	9.075	0.35674	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.351197	0.253086	0.383562	0.346491	0.125000	0.394737	0.307692	0.388000	0.2	150.59	48	chr7	152235831	.	C	G	150.59	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.331;DP=743;ExcessHet=1.5895;FS=9.184;InbreedingCoeff=-0.2504;MLEAC=4;MLEAF=0.2;MQ=51.86;MQRankSum=-2.17;QD=0.55;ReadPosRankSum=-0.963;SOR=1.39	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,8:67:28:.:.:28,0,2236:.	6	0	4	0
chr8	7823381	7823381	C	A	splicing	DEFB105A;DEFB105B	NM_152250:exon2:c.112+1G>T;NM_001040703:exon2:c.112+1G>T	.	.	.	434	1078	10	0	0	10	0.00461681	1.0000	0.738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0	0.0003	0.0005	0	0.0005	0.0011	0.0136	0.0001537	4	26028	rs777027537	0.0006	0.0011	0.0004	0.0008	0.0081	0.0006	0.0006	0.0076	0.0074	0.0001	7.372e-05	0.0004	0.0001	0	0.0030	0.0001	0.0010	0.0081	0.0005	0.0008	0.0003	0.0008	0.0093	0.0004	0.0004	0.0071	0.0063	9.651e-05	0	0.0005	0.0003	0	0	0.0068	0.0003	0.0005	0.0093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0302802	0.55761	T	-0.194281	0.55188	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.765676	0.77093	26.6	0.97697661142478343	0.35418	0.69076	0.34046	D	AEFI	.	.	.	0.705373147454765	0.79984	7.194922	0.430132695400055	0.63450	4.57907	7.62625928261573E-5	0.04552	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.888603	0.55606	3.28	3.28	0.36691	2.552000	0.45490	6.466000	0.55704	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.061000	0.16044	0.0:1.0:0.0:0.0	10.291	0.42777	994	0.00715	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	50.43	34	chr8	7823381	.	C	A	50.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.265;DP=353;ExcessHet=0;FS=1.484;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.39;MQRankSum=-1.428;QD=1.01;ReadPosRankSum=-0.954;SOR=1.056	GT:AD:DP:GQ:PL	0/1:42,8:50:62:62,0,980	9	0	1	0
chr8	12137207	12137207	C	A	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.G1554T:p.K518N	.	616	897	8	1	0	10	0.00554324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0034	0.0071885	0.0028	0.0141	0.0010	0.0081	0	0.0007	0.0061	0.0048	0.0022639	350	154602	rs199935289	0.0012	0.0013	0.0011	0.0012	0.0153	0.0011	0.0011	0.0142	0.0137	0.0153	0.0010	0.0004	0.0047	1.998e-05	0.0123	0.0004	0.0030	0.0044	0.0045	0.0051	0.0043	0.0047	0.0133	0.0042	0.0041	0.0123	0.0120	0.0133	0	0.0014	0.0006	0.0087	0	0	0.0008	0.0041	0.0047	0.037	0.43085	D	0.116	0.36497	T	0.004	0.12183	B	0.004	0.10090	B	0.584620	0.11110	U	0.747577	1	0.08975	N	0.975	0.24501	L	2.45	0.15028	T	-1.99	0.45949	N	0.126	0.11912	-1.0086	0.27354	T	0.014	0.05465	T	9	0.0050477684	0.00109	T	.	.	.	0.018	0.03083	0.181	0.08877	0.0716867268079	0.06686	0.02595008225852016	0.02546	0.435405914974	0.43647	0.602028846741	0.53191	T	0.006779	0.06208	T	-0.669028	0.00056	T	-0.726112	0.04505	T	0.00568823666016435	0.00062	T	0.433957	0.11861	T	0.16421562	0.36613	0.1792721	0.40650	0.16421562	0.36613	0.1792721	0.40650	-5.967	0.46003	T	.	.	0.272	0.50609	B	.	.	1.645895	0.21003	15.01	0.90395909990283008	0.19658	0.00472	0.02260	N	AEFBI	0.041708	0.06377	N	-1.0421031108638	0.07743	0.3607321	-1.16024160019713	0.06586	0.3175015	1.9247114733967E-6	0.01202	0.516011	0.20929	0	0.610034	0.51514	0	0.55458	0.18720	0	0.564101	0.26826	0	.	.	0.418	0.418	0.15647	0.548000	0.23022	-4.196000	0.02288	0.272000	0.18543	0.078000	0.22289	0.000000	0.08366	0.045000	0.14751	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022672	0.000000	0.027143	0.060748	0.062500	0.018519	0.015385	0.000000	0.05556	705.08	112	chr8	12137207	.	C	A	705.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.525;DP=1005;ExcessHet=0;FS=0.74;MLEAC=1;MLEAF=0.056;MQ=59.62;MQRankSum=0.425;QD=1.72;ReadPosRankSum=1.06;SOR=0.82	GT:AD:DP:GQ:PL	0/1:343,66:409:99:716,0,9731	8	0	1	1
chr8	12137772	12137772	C	A	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.G989T:p.C330F	.	530	982	9	1	0	11	0.00556962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00122202859647	.	0.000399361	0.0012	0	0.0005	0	0.0005	0.0002	0.0035	0.0063	0.0002305	6	26028	rs201342238	0.0004	0.0004	0.0002	0.0006	0.0054	0.0004	0.0004	0.0049	0.0048	0	0.0002	0	0	7.84e-05	0.0020	6.66e-05	0.0006	0.0054	0.0001	0.0001	8.332e-05	0.0002	0.0036	8.233e-05	6.822e-05	0.0022	0.0017	0	0	7.274e-05	0	0	0.0002	0	1.547e-05	0	0.0036	0.0	0.91255	D	0.001	0.83351	D	0.142	0.27621	B	0.216	0.37572	B	0.001113	0.40219	N	0.160618	0.91258	0.36451	D	2.255	0.64187	M	3.47	0.05188	T	-9.72	0.98616	D	0.454	0.49146	-1.0625	0.11142	T	0.022	0.09284	T	10	0.013972223	0.00295	T	0.001222	0.01608	T	0.178	0.44724	.	.	0.370424759081	0.36655	0.02830831682622384	0.02780	1.4404443071	0.85963	0.526339828968	0.42519	T	0.006646	0.06077	T	-0.400585	0.02295	T	-0.51563	0.20739	T	0.218766700757528	0.21402	T	0.975802	0.91539	D	0.82398933	0.85491	0.5145042	0.71947	0.82398933	0.85492	0.5145042	0.71948	-12.374	0.86625	D	.	.	0.224	0.45520	B	.	.	2.181801	0.27809	17.59	0.98032682235053026	0.37728	0.51360	0.28877	D	AEFBI	0.366179	0.45409	N	-0.546848914256089	0.20582	1.086094	-0.691592343951948	0.17169	0.9117934	1.08596093194533E-5	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.935	-0.342	0.12008	3.976000	0.56574	-0.079000	0.12201	0.272000	0.18543	1.000000	0.71638	0.000000	0.08366	0.020000	0.11549	0.0:0.6862:0.3138:0.0	6.344	0.20546	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease, conserved site|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	0.000624	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004673	0.05556	739.08	385	chr8	12137772	.	C	A	739.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.951;DP=2917;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=49.81;MQRankSum=-0.701;QD=1.18;ReadPosRankSum=1.54;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:539,88:627:99:1|0:12137765_G_A:750,0,20703:12137765	8	0	1	1
chr8	17543652	17543652	G	C	exonic	SLC7A2	.	nonsynonymous SNV	SLC7A2:NM_001008539:exon2:c.G313C:p.V105L,SLC7A2:NM_001164771:exon2:c.G433C:p.V145L,SLC7A2:NM_003046:exon2:c.G433C:p.V145L,SLC7A2:NM_001370337:exon3:c.G313C:p.V105L,SLC7A2:NM_001370338:exon3:c.G313C:p.V105L	.	416	1069	37	0	0	37	0.0170115	.	.	.	3210636	SLC7A2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.620	.	0.0020	0.00259585	0.0039	0.0003	0.0019	0	0.0011	0.0040	0.0038	0.0149	0.0037386	578	154602	rs145975234	0.0029	0.0030	0.0025	0.0033	0.0152	0.0028	0.0028	0.0144	0.0141	0.0003	0.0013	0.0086	0	0.0011	0.0050	0.0022	0.0032	0.0152	0.0020	0.0020	0.0016	0.0023	0.0166	0.0018	0.0017	0.0137	0.0126	0.0004	0.0066	0.0007	0.0075	0	0.0007	0	0.0022	0.0019	0.0166	0.027	0.48642	D	0.003	0.76473	D	0.998	0.90584	D	0.967	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.045	0.86684	M	-2.5	0.89219	D	-2.65	0.56787	D	0.853	0.86511	0.912	0.95851	D	0.872	0.95742	D	10	0.010587305	0.00235	T	.	.	.	0.620	0.85249	0.631	0.76699	0.894632018257	0.89358	0.8347756793506065	0.83436	0.168244600997	0.18970	0.867851257324	0.92260	D	0.697762	0.91270	D	0.0481316	0.58103	T	0.309335	0.88623	D	0.0640459997518821	0.07789	T	0.940956	0.77922	D	0.41360077	0.61663	0.27506047	0.53439	0.41360077	0.61664	0.27506047	0.53438	-14.735	0.95669	D	.	.	0.903	0.83884	P	.;.;.;.;.;.	.;.;.;.;.;.	4.258830	0.64710	24.7	0.99531259542672745	0.69901	0.99314	0.94366	D	AEFGBI	0.952643	0.96827	D	0.753607304429032	0.83140	7.939863	0.600031295634712	0.74942	6.223826	1.0	0.98316	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	9.956000	0.98995	10.026000	0.83153	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.046000	0.14843	0.0:0.0:1.0:0.0	20.090	0.97813	814	0.42100	.;.;.;.;.;.	.	.	.	.	.	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	0.006042	0.000000	0.004076	0.008772	0.000000	0.000000	0.021341	0.007576	0.05	1303.43	35	chr8	17543652	.	G	C	1303.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.31;DP=504;ExcessHet=0;FS=8.685;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=0.244;SOR=1.339	GT:AD:DP:GQ:PL	0/1:104,57:161:99:1315,0,2377	9	0	1	0
chr8	23289976	23289976	G	A	exonic	R3HCC1	.	nonsynonymous SNV	R3HCC1:NM_001136108:exon4:c.G359A:p.R120Q	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.025607457089	.	.	7.54e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs760127872	1.806e-05	1.71e-05	1.284e-05	2.343e-05	0.0004	1.24e-05	1.048e-05	6.163e-05	4.355e-05	0	0	0	0	0	0.0004	1.205e-05	1.727e-05	0.0001	2.627e-05	2.626e-05	1.284e-05	4.033e-05	0.0002	8.14e-06	5.14e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0.0002	0.276	0.15717	T	0.113	0.56192	T	.	.	.	.	.	.	0.203383	0.16544	N	0.597558	1	0.81001	D	.	.	.	2.31	0.16794	T	-0.45	0.14782	N	0.141	0.14054	-1.0533	0.13493	T	0.042	0.17952	T	7	0.12228364	0.23195	T	0.025607	0.48570	D	0.046	0.12618	0.328	0.31196	0.0611884634855	0.05136	0.2587906778799977	0.25793	.	.	.	.	.	0.021982	0.17856	T	-0.322062	0.06730	T	-0.463728	0.26195	T	0.0836576297879219	0.10449	T	0.755524	0.39166	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.17573	B	.;.;.;.;.	.;.;.;.;.	3.251238	0.44425	21.9	0.99787693551847167	0.87396	0.63738	0.32183	D	AEFBCI	0.168590	0.29536	N	0.0593314446779676	0.44572	2.728874	0.0935952576004992	0.44225	2.70844	0.999999778774338	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.71	4.83	0.61880	0.986000	0.29190	2.992000	0.35885	0.674000	0.70861	0.751000	0.29144	0.998000	0.33993	0.415000	0.27117	0.0:0.1538:0.6866:0.1596	9.663	0.39132	641	0.64016	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1933.43	34	chr8	23289976	.	G	A	1933.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.711;DP=459;ExcessHet=0;FS=1.325;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.544;SOR=0.687	GT:AD:DP:GQ:PL	0/1:63,81:144:99:1945,0,1328	9	0	1	0
chr8	25351809	25351809	C	T	exonic	DOCK5	.	nonsynonymous SNV	DOCK5:NM_024940:exon27:c.C2833T:p.R945W	.	433	1081	8	0	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	.	.	0.00419329	0.0026	0.0001	9.195e-05	0.0002	0	4.696e-05	0.0048	0.0191	0.0021733	336	154602	rs552784556	0.0011	0.0011	0.0006	0.0016	0.0163	0.0010	0.0010	0.0156	0.0153	0.0001	4.474e-05	0	0.0003	0	0.0007	7.286e-05	0.0010	0.0163	0.0007	0.0008	0.0004	0.0011	0.0212	0.0006	0.0006	0.0178	0.0166	9.626e-05	0	0	0	0.0004	0	0.0034	5.88e-05	0.0005	0.0212	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.981	0.75168	D	0.000008	0.62929	D	0.060730	0.968324	0.38652	D	3.03	0.86425	M	3.75	0.03922	T	-6.6	0.92042	D	0.791	0.78737	-1.0361	0.18513	T	0.059	0.24539	T	10	0.008698851	0.00197	T	.	.	.	0.271	0.58633	.	.	0.324161360171	0.32030	0.7084678063372813	0.70788	0.297587418511	0.32142	0.473249644041	0.35128	T	0.620639	0.88104	D	-0.214226	0.18789	T	-0.0662175	0.65895	T	0.182252707481637	0.19376	T	0.973153	0.90356	D	0.697339	0.77911	0.5270562	0.72675	0.697339	0.77913	0.5270562	0.72675	-7.962	0.60810	D	.	.	0.286	0.51849	B	.	.	5.230933	0.87800	29.4	0.99908106056020174	0.97801	0.87624	0.47224	D	AEFDBI	0.693319	0.65269	D	0.610523646705695	0.73838	6.032208	0.550097528564711	0.71403	5.649702	0.999773063521254	0.42865	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.98	4.06	0.46572	1.121000	0.30897	2.152000	0.30918	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.3607:0.6393:0.0:0.0	15.543	0.75808	450	0.79359	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.015152	0.05	1249.43	33	chr8	25351809	.	C	T	1249.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=448;ExcessHet=0;FS=0.688;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=1.15;SOR=0.827	GT:AD:DP:GQ:PL	0/1:70,53:123:99:1261,0,1589	9	0	1	0
chr8	28527857	28527857	A	C	exonic	FZD3	.	nonsynonymous SNV	FZD3:NM_145866:exon4:c.A1097C:p.Y366S,FZD3:NM_017412:exon5:c.A1097C:p.Y366S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.733	0.112536711528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23360	T	0.229	0.25210	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.22	0.30592	L	-1.48	0.81150	T	-3.36	0.66549	D	0.892	0.89131	-0.0033	0.82188	T	0.531	0.82597	D	10	0.86584103	0.85828	D	0.112537	0.79072	D	0.733	0.90677	0.506	0.60078	0.910978530935	0.91008	0.82420749831174	0.82378	1.94513251559	0.93320	0.79725664854	0.81546	T	0.709163	0.91690	D	0.387863	0.89198	D	0.319362	0.89062	D	0.984737694263458	0.75947	D	0.861414	0.55526	D	0.50037515	0.67117	0.37308556	0.62503	0.50037515	0.67118	0.37308556	0.62503	-7.107	0.54811	T	.	.	0.467	0.63338	A	.;.	.;.	4.849540	0.79257	27.1	0.98881879482698976	0.47841	0.98876	0.88035	D	AEFGBI	0.912067	0.87221	D	0.628358452111575	0.74975	6.224987	0.647031843081357	0.78390	6.86662	0.999999906386	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.11	5.11	0.69188	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.703	0.62101	835	0.38313	Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain;Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	808.82	36	chr8	28527857	.	A	C	808.82	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.38;DP=1118;ExcessHet=0.2348;FS=452.524;InbreedingCoeff=-0.2903;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=2.42;ReadPosRankSum=2.9;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,27:153:99:0|1:28527847_G_T:226,0,2351:28527847	3	0	2	5
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	0.15	89.54	88	chr8	28780872	.	G	C	89.54	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.73;DP=850;ExcessHet=0.7463;FS=181.973;InbreedingCoeff=-0.1741;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=-0.401;SOR=10.087	GT:AD:DP:GQ:PL	0/1:73,18:98:40:40,0,1341	7	0	3	0
chr8	33453419	33453419	T	C	exonic	FUT10	.	nonsynonymous SNV	FUT10:NM_032664:exon3:c.A173G:p.H58R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00729284643867	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1028719579	2.052e-06	2.052e-06	2.723e-06	1.375e-06	6.708e-05	5.5e-07	1.5e-07	1.779e-05	8.93e-06	0	6.708e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.29029	T	0.072	0.49942	T	0.0	0.02946	B	0.001	0.04355	B	0.307822	0.03995	N	1.452640	1	0.21869	N	1.5	0.37844	L	1.27	0.36146	T	-0.95	0.25332	N	0.072	0.04547	-1.0276	0.21233	T	0.082	0.32178	T	10	0.19698828	0.35613	T	0.007293	0.19334	T	0.019	0.03383	0.365	0.37199	0.298056030225	0.29408	0.5068301163600082	0.50605	0.0282005231071	0.02900	0.25351113081	0.04147	T	0.004119	0.03532	T	-0.358963	0.04188	T	-0.577555	0.14764	T	0.025062521317496	0.01281	T	0.423058	0.11286	T	0.024207538	0.01230	0.031080758	0.01648	0.024207538	0.01230	0.031080758	0.01647	-2.958	0.09736	T	.	.	0.060	0.01011	B	.;.;.	.;.;.	-0.010153	0.04214	1.030	0.61292250595879394	0.06672	0.13785	0.18050	N	AEFBI	0.043299	0.06827	N	-1.00769928087774	0.08442	0.3958927	-1.00508559066594	0.09673	0.4826195	0.0032971046349233	0.10040	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.82	2.2	0.26966	1.102000	0.30662	-0.840000	0.07221	-0.127000	0.13314	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.2378:0.0:0.7622	8.080	0.29901	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	.	.	.	.	.	.	.	.	0.05	648.43	33	chr8	33453419	.	T	C	648.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.693;DP=385;ExcessHet=0;FS=3.191;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=-0.228;SOR=0.54	GT:AD:DP:GQ:PL	0/1:42,29:71:99:660,0,1175	9	0	1	0
chr8	42417837	42417837	G	A	exonic	SLC20A2	.	nonsynonymous SNV	SLC20A2:NM_001257180:exon11:c.C1925T:p.A642V,SLC20A2:NM_001257181:exon11:c.C1925T:p.A642V,SLC20A2:NM_006749:exon11:c.C1925T:p.A642V	Basal ganglia calcification, idiopathic, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.441	0.18730610641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.34982	T	0.288	0.21144	T	0.449	0.36046	B	0.099	0.30579	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.89	0.50145	L	-2.86	0.91421	D	-1.7	0.40468	N	0.737	0.81162	-0.0690	0.80802	T	0.562	0.84063	D	10	0.6963955	0.72170	D	0.187306	0.85930	D	0.441	0.74447	0.436	0.48828	0.747164490037	0.74488	0.9334742945601687	0.93326	0.857948775755	0.68837	0.656321644783	0.60884	T	0.123129	0.44727	T	0.355206	0.86882	D	0.272453	0.86711	D	0.665361619026374	0.39131	D	0.960504	0.85148	D	0.15710792	0.35419	0.21221037	0.45681	0.15710792	0.35419	0.21221037	0.45680	-11.26	0.81065	D	0.5929757970623135	0.65980	0.531	0.65955	A	.;.;.	.;.;.	4.107828	0.61298	24.3	0.95363356238489438	0.26765	0.99155	0.92040	D	AEFDBI	0.892456	0.82939	D	0.199324755046388	0.51166	3.300142	0.346256571646352	0.58282	3.997939	0.99999999999995	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	6.17	6.17	0.99707	10.003000	0.99689	10.002000	0.83047	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.196000	0.21779	0.0:0.0:1.0:0.0	18.373	0.90364	710	0.56735	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	120.43	36	chr8	42417837	.	G	A	120.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-7.159;DP=873;ExcessHet=0;FS=334.827;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.61;SOR=9.065	GT:AD:DP:GQ:PL	0/1:243,88:335:99:132,0,4666	9	0	1	0
chr8	67267206	67267206	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1697C:p.Y566S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.185111105236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.615	0.93875	H	-0.14	0.65006	T	-8.21	0.96839	D	0.903	0.90363	0.359	0.88479	D	0.556	0.83808	D	10	0.9076985	0.90135	D	0.185111	0.85792	D	0.827	0.94503	0.744	0.87570	0.87037615458	0.86911	0.9092638382302259	0.90900	2.66344963391	0.98472	0.932812094688	0.99139	D	0.543141	0.84394	D	0.399337	0.89876	D	0.335844	0.89748	D	0.999809205532074	0.99090	D	0.994967	0.98297	D	0.9542225	0.96695	0.9234184	0.96638	0.9542225	0.96696	0.9234184	0.96638	-14.814	0.95401	D	.	.	0.994	0.95244	P	.	.	4.277610	0.65129	24.8	0.99153331616312945	0.53875	0.99263	0.93634	D	AEBI	0.859364	0.77703	D	0.963041333664288	0.94489	12.79763	0.891701606307143	0.95200	13.402	0.999999722328493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	7.941000	0.87167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.858	0.78774	515	0.74782	Guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	140.16	39	chr8	67267206	.	T	G	140.16	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-2.544;DP=727;ExcessHet=0.2348;FS=291.052;InbreedingCoeff=-0.3374;MLEAC=3;MLEAF=0.375;MQ=59.95;MQRankSum=0;QD=1.01;ReadPosRankSum=2.15;SOR=8.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,11:62:99:0|1:67267202_T_G:120,0,1377:67267202	2	0	2	6
chr8	72568126	72568126	T	C	exonic	KCNB2	.	nonsynonymous SNV	KCNB2:NM_004770:exon2:c.T392C:p.I131T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.0551649391622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.005	0.72224	D	0.982	0.60036	D	0.93	0.66466	D	.	.	.	.	0.999995	0.58761	D	0.205	0.09354	N	-0.97	0.75670	T	-3.55	0.68764	D	0.86	0.85660	-0.2786	0.75579	T	0.333	0.70026	T	9	0.8193847	0.81153	D	0.055165	0.66132	D	0.592	0.83747	0.427	0.47350	0.909612759745	0.90871	0.76148700511481	0.76096	1.25690945348	0.81934	0.951684474945	0.99785	D	0.641842	0.89027	D	0.318427	0.84359	D	0.219622	0.84156	D	0.924446704382473	0.58562	D	0.920608	0.71304	D	0.28000912	0.51049	0.35322383	0.60888	0.28000912	0.51049	0.35322383	0.60887	-4.84	0.35053	T	.	.	0.998	0.97009	P	.	.	4.856204	0.79421	27.1	0.99855413978733831	0.93458	0.98167	0.80181	D	AEFI	0.921860	0.89597	D	0.53268574687625	0.69034	5.300113	0.635276251618612	0.77519	6.694933	0.999989729781648	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	8.017000	0.88732	7.844000	0.70656	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.314	0.82741	953	0.10115	Potassium channel tetramerisation-type BTB 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	.	.	.	.	.	.	.	.	0.1	145.15	38	chr8	72568126	.	T	C	145.15	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.203;DP=622;ExcessHet=0.2348;FS=102.733;InbreedingCoeff=-0.1114;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=-0.108;SOR=6.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,16:100:55:.:.:55,0,1759:.	8	0	2	0
chr8	86064021	86064021	T	G	exonic	PSKH2	.	nonsynonymous SNV	PSKH2:NM_033126:exon2:c.A796C:p.S266R	.	425	1040	55	2	0	59	0.027583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0030	0.00898562	0.0097	0.0015	0.0038	0.0001	0.0039	0.0050	0.0055	0.0453	0.0087192	1348	154602	rs34037815	0.0065	0.0065	0.0052	0.0078	0.0467	0.0064	0.0063	0.0455	0.0450	0.0015	0.0029	0.0110	0.0001	0.0031	0.0250	0.0038	0.0078	0.0467	0.0046	0.0046	0.0040	0.0053	0.0437	0.0043	0.0042	0.0389	0.0370	0.0012	0.0198	0.0041	0.0115	0	0.0037	0.0204	0.0040	0.0038	0.0437	0.001	0.78490	D	0.038	0.51421	D	0.91	0.50240	P	0.821	0.59116	P	.	.	.	.	0.962919	0.26046	N	2.2	0.62015	M	0.94	0.43672	T	-2.16	0.48850	N	0.319	0.35938	-0.8626	0.51075	T	0.196	0.55056	T	9	0.0032428503	0.00055	T	.	.	.	0.124	0.34239	0.192	0.10304	0.657976263744	0.65511	0.24922915946039909	0.24836	0.328627424964	0.34968	0.406651437283	0.25993	T	0.003406	0.02809	T	-0.442804	0.01245	T	-0.375977	0.36192	T	0.0261478254670413	0.01425	T	0.885811	0.61165	D	0.5636708	0.70712	0.586686	0.76028	0.5636708	0.70713	0.586686	0.76029	-6.148	0.47501	T	.	.	0.324	0.54782	B	.	.	3.875295	0.56290	23.7	0.99816952669844872	0.90061	0.97336	0.74107	D	AEFBIJ	0.878919	0.80449	D	0.570515308461417	0.71340	5.635989	0.553274389585351	0.71626	5.683463	0.999999998835541	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.98	4.98	0.65679	7.492000	0.80315	3.025000	0.36018	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.985000	0.61073	0.0:0.0:0.0:1.0	12.616	0.55934	487	0.76954	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019637	0.000000	0.010870	0.032164	0.000000	0.017241	0.027439	0.022727	0.05	934.43	40	chr8	86064021	.	T	G	934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.433;DP=405;ExcessHet=0;FS=6.094;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.096;SOR=0.26	GT:AD:DP:GQ:PL	0/1:34,44:78:99:946,0,770	9	0	1	0
chr8	100529590	100529590	G	C	exonic	ANKRD46	.	nonsynonymous SNV	ANKRD46:NM_001270377:exon3:c.C244G:p.L82V,ANKRD46:NM_001270378:exon3:c.C244G:p.L82V,ANKRD46:NM_001270379:exon3:c.C244G:p.L82V,ANKRD46:NM_198401:exon4:c.C244G:p.L82V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.596	0.150005866971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0015	0.0001	0.0001	0.0002	9.864e-05	9.277e-05	0.0001	0.0001	0.0002	2.237e-05	7.67e-05	2.521e-05	0	0	0.0001	0.0001	4.648e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.70582	D	0.979	0.59044	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	-0.42	0.81559	T	-2.73	0.59226	D	0.725	0.78737	0.478	0.90229	D	0.674	0.88703	D	10	0.8767001	0.87427	D	0.150006	0.83175	D	0.596	0.83965	0.755	0.88484	0.890307275418	0.88922	0.8234338829086948	0.82300	1.55775025529	0.88002	0.872135579586	0.92873	D	0.101322	0.44326	T	0.308324	0.83617	D	0.205109	0.83403	D	0.974698483943939	0.70616	D	0.974603	0.93166	D	0.66677815	0.76261	0.63095033	0.78471	0.66677815	0.76262	0.63095033	0.78472	-7.09	0.54688	T	.	.	0.739	0.74650	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.979340	0.58488	24.0	0.99868500657537906	0.94637	0.91448	0.53554	D	AEFDGBCIJ	0.756888	0.69601	D	0.711921816677299	0.80415	7.288927	0.679696694225148	0.80838	7.389038	0.999999999994741	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.78	4.9	0.63643	6.387000	0.73118	9.962000	0.82803	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0697:0.0:0.9303:0.0	14.563	0.67745	254	0.90023	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	31.35	62	chr8	100529590	.	G	C	31.35	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.578;DP=656;ExcessHet=0;FS=385.368;InbreedingCoeff=-0.098;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=1.03;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,25:96:42:.:.:42,0,1320:.	8	0	1	1
chr8	119758104	119758104	T	C	exonic	TAF2	.	nonsynonymous SNV	TAF2:NM_003184:exon21:c.A2737G:p.M913V	Mental retardation, autosomal recessive 40, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1344243	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0152404202454	0.0002	.	6.593e-05	0	8.639e-05	0	0	7.497e-05	0.0022	0	5.17e-05	8	154602	rs373917557	6.571e-05	6.635e-05	6.81e-05	6.328e-05	0.0003	5.498e-05	5.11e-05	6.096e-05	4.113e-05	0	8.945e-05	0.0003	0	0	0.0003	5.667e-05	0.0002	9.278e-05	5.257e-05	5.254e-05	7.709e-05	2.69e-05	0.0002	2.557e-05	1.83e-05	1.972e-05	1.124e-05	0	0	0	0.0009	0	0	0	5.88e-05	0	0.0002	0.075	0.44358	T	0.022	0.57587	D	0.009	0.15093	B	0.014	0.16862	B	0.000001	0.62929	D	0.127189	0.999995	0.58761	D	1.15	0.29295	L	0.97	0.42502	T	-0.25	0.22508	N	0.873	0.87049	-1.0891	0.05684	T	0.078	0.31224	T	10	0.15104735	0.28558	T	0.01524	0.35857	T	0.107	0.30369	.	.	0.744240231762	0.74193	0.4968890820016353	0.49609	0.412230636246	0.41969	0.50600039959	0.39663	T	0.011379	0.10158	T	-0.0716272	0.41064	T	-0.13801	0.60291	T	0.0619214735925198	0.07468	T	0.921608	0.71541	D	0.25560555	0.48595	0.14264672	0.33929	0.25560555	0.48595	0.14264672	0.33928	-5.859	0.45085	T	0.09344570143363792	0.06147	0.113	0.45049	B	.;.	.;.	2.901386	0.38459	20.7	0.98398254741956759	0.41042	0.96601	0.69959	D	AEFBI	0.555588	0.56597	D	-0.0895885513634342	0.37848	2.207964	0.132511275862608	0.46223	2.871714	0.931904689464539	0.27067	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.66	5.66	0.87293	4.534000	0.60334	7.827000	0.69967	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.898	0.79131	895	0.25842	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	1500.14	33	chr8	119758104	.	T	C	1500.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.632;DP=458;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.335;SOR=0.683	GT:AD:DP:GQ:PL	0/1:50,41:91:99:817,0,1109	8	0	2	0
chr8	123097290	123097290	G	A	exonic	TBC1D31	.	nonsynonymous SNV	TBC1D31:NM_001330606:exon5:c.G365A:p.R122Q,TBC1D31:NM_001363152:exon5:c.G365A:p.R122Q,TBC1D31:NM_001363154:exon5:c.G365A:p.R122Q,TBC1D31:NM_001363155:exon5:c.G365A:p.R122Q,TBC1D31:NM_001145088:exon6:c.G680A:p.R227Q,TBC1D31:NM_001363148:exon6:c.G680A:p.R227Q,TBC1D31:NM_001363149:exon6:c.G650A:p.R217Q,TBC1D31:NM_001363150:exon6:c.G680A:p.R227Q,TBC1D31:NM_001363151:exon6:c.G680A:p.R227Q,TBC1D31:NM_001363153:exon6:c.G680A:p.R227Q,TBC1D31:NM_145647:exon6:c.G680A:p.R227Q	.	434	1086	2	0	0	2	0.000919963	.	.	.	2333648	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.025766431007	0.0002	0.000199681	0.0001	0	8.639e-05	0	0	0.0002	0	6.058e-05	0.0001617	25	154602	rs143777547	0.0003	0.0003	0.0003	0.0003	0.0109	0.0003	0.0002	0.0088	0.0080	0.0003	4.474e-05	0	2.519e-05	1.872e-05	0.0109	0.0003	0.0004	9.277e-05	0.0001	0.0001	6.427e-05	0.0002	0.0002	7.575e-05	6.28e-05	0.0001	9.898e-05	4.816e-05	0	6.542e-05	0	0	0	0.0034	0.0002	0	0	0.049	0.40832	D	0.085	0.60972	T	0.15	0.27995	B	0.023	0.19966	B	0.000195	0.48115	D	0.134555	0.672534	0.30923	N	1.65	0.42232	L	-0.22	0.70717	T	-1.55	0.47008	N	0.242	0.30233	-0.6383	0.63218	T	0.222	0.58510	T	10	0.09917486	0.17980	T	0.025766	0.48722	D	0.052	0.14661	.	.	0.66689630219	0.66409	0.2933300572960414	0.29246	0.0822840834372	0.09278	0.347335666418	0.17529	T	0.008408	0.20609	T	-0.267882	0.11993	T	-0.325011	0.42024	T	0.0652582868933678	0.07970	T	0.937306	0.77406	D	0.14157243	0.32615	0.09822833	0.23411	0.14157243	0.32615	0.09822833	0.23410	-9.005	0.69481	D	.	.	0.077	0.14385	B	.;.;.;.;.	.;.;.;.;.	3.736824	0.53487	23.4	0.99777427655962714	0.86433	0.86073	0.45287	D	AEFGBI	0.124766	0.24097	N	-0.0570546018428104	0.39287	2.314409	0.113427382016881	0.45235	2.790256	0.999949088223639	0.47345	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.94	5.07	0.68106	3.345000	0.51899	9.798000	0.81680	0.618000	0.50648	0.991000	0.37257	1.000000	0.68203	0.984000	0.60418	0.1319:0.0:0.8681:0.0	13.248	0.59460	924	0.18029	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	0.011581	0.020202	0.006793	0.032164	0.000000	0.008621	0.003049	0.003788	0.1	896.14	35	chr8	123097290	.	G	A	896.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.185;DP=357;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.232;SOR=0.625	GT:AD:DP:GQ:PL	0/1:23,23:46:99:512,0,485	8	0	2	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	517.53	161	chr8	132010871	.	G	C	517.53	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.686;DP=1526;ExcessHet=0.7463;FS=211.335;InbreedingCoeff=-0.1791;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=0.715;SOR=11.704	GT:AD:DP:GQ:PL	0/1:81,52:143:99:244,0,1109	7	0	3	0
chr8	132804005	132804005	G	A	exonic	PHF20L1	.	nonsynonymous SNV	PHF20L1:NM_001277196:exon6:c.G616A:p.D206N,PHF20L1:NM_001362971:exon6:c.G616A:p.D206N,PHF20L1:NM_198513:exon6:c.G616A:p.D206N,PHF20L1:NM_016018:exon7:c.G694A:p.D232N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0115266637685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.453	0.35455	T	0.372	0.34134	B	0.312	0.41466	B	0.142512	0.18241	N	0.607210	0.952252	0.81001	D	0	0.06538	N	0.85	0.47477	T	-1.07	0.31375	N	0.176	0.25377	-0.9728	0.36605	T	0.101	0.37443	T	10	0.12235302	0.23210	T	0.011527	0.29247	T	0.063	0.18251	0.171	0.07655	0.258436476835	0.25460	0.24866410637430061	0.24780	0.547561883492	0.51719	0.349470287561	0.17844	T	0.058701	0.30914	T	-0.218933	0.18139	T	-0.552259	0.17110	T	0.765105339381629	0.44148	D	0.892711	0.64723	D	0.14623536	0.33486	0.1307911	0.31420	0.14623536	0.33485	0.1307911	0.31419	-4.126	0.34812	T	.	.	0.091	0.19958	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.256382	0.64649	24.7	0.99797584564061348	0.88283	0.98592	0.84463	D	AEFDBI	0.820892	0.74158	D	0.0167741354743622	0.42618	2.571282	0.245113666878269	0.52371	3.412443	0.999743363373417	0.42466	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.656000	0.82725	11.836000	0.97677	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.256	0.89958	887	0.27948	Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;.;Domain of unknown function DUF3776;Domain of unknown function DUF3776	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	65.3	41	chr8	132804005	.	G	A	65.3	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.673;DP=504;ExcessHet=0.2348;FS=195.153;InbreedingCoeff=-0.1933;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.016;SOR=8.121	GT:AD:DP:GQ:PL	0/1:25,12:38:73:73,0,306	5	0	2	3
chr8	134602724	134602724	G	A	exonic	ZFAT	.	nonsynonymous SNV	ZFAT:NM_001174157:exon5:c.C809T:p.S270L,ZFAT:NM_001167583:exon6:c.C959T:p.S320L,ZFAT:NM_001174158:exon6:c.C959T:p.S320L,ZFAT:NM_020863:exon6:c.C995T:p.S332L,ZFAT:NM_001029939:exon7:c.C959T:p.S320L,ZFAT:NM_001289394:exon7:c.C959T:p.S320L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.00360917246389	.	.	2.487e-05	0	0	0	0	4.499e-05	0	0	1.94e-05	3	154602	rs766044168	9.578e-06	9.577e-06	1.089e-05	8.252e-06	7.559e-05	5.56e-06	4.35e-06	2.004e-05	1.055e-05	0	4.474e-05	0	7.559e-05	0	0	8.094e-06	0	0	2.626e-05	2.625e-05	2.569e-05	2.685e-05	0.0002	8.14e-06	5.14e-06	2.257e-05	9.06e-06	0	0	0.0001	0	0.0002	0	0	1.47e-05	0	0	0.039	0.42487	D	0.204	0.35840	T	0.993	0.65571	D	0.636	0.51948	P	0.937521	0.07573	N	1.028360	1	0.08975	N	1.115	0.28702	L	2.37	0.15964	T	-2.91	0.63207	D	0.359	0.41557	-1.0498	0.14453	T	0.060	0.25090	T	10	0.4001403	0.55509	T	0.003609	0.08278	T	0.185	0.45933	0.771	0.89767	0.291694819147	0.28783	0.21787277563710108	0.21703	0.303909260197	0.32711	0.414243131876	0.27044	T	0.085077	0.82359	T	-0.303771	0.08308	T	-0.498275	0.22526	T	0.220101476533249	0.21469	T	0.976602	0.94400	D	0.09998197	0.23602	0.1307759	0.31416	0.09998197	0.23601	0.1307759	0.31415	-12.194	0.85783	D	.	.	0.101	0.21277	B	.;.;.;.;.;.	.;.;.;.;.;.	3.864325	0.56067	23.7	0.9864076231804636	0.44042	0.78437	0.38697	D	AEFDGBCI	0.584584	0.58335	D	0.230368630086825	0.52675	3.44025	0.232962425947256	0.51685	3.34897	0.999999938420943	0.74766	0.638212	0.43195	0	0.623108	0.53289	0	0.653264	0.51672	0	0.491896	0.07777	0	.	.	6.04	4.02	0.45968	6.630000	0.74133	9.642000	0.81151	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	0.453000	0.27962	0.0781:0.1344:0.7876:0.0	11.133	0.47581	982	0.03397	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1408.43	42	chr8	134602724	.	G	A	1408.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=576;ExcessHet=0;FS=9.025;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-1.837;SOR=0.878	GT:AD:DP:GQ:PL	0/1:83,59:142:99:1420,0,1957	9	0	1	0
chr8	143441023	143441023	C	T	exonic	ZC3H3	.	nonsynonymous SNV	ZC3H3:NM_015117:exon10:c.G2405A:p.R802H	.	413	1098	9	2	0	13	0.00588502	.	.	.	2828591	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.061	0.045088624495	7.8e-05	.	0.0005	0	0.0002	0.0002	0	0.0007	0.0027	0.0006	0.0002652	41	154602	rs376452593	0.0004	0.0004	0.0003	0.0004	0.0062	0.0003	0.0003	0.0045	0.0040	0.0004	0.0004	4.844e-05	0	0	0.0062	0.0004	0.0006	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0	0	0.0001	0.0003	0	0	0.0034	0.0004	0.0005	0	0.048	0.40068	D	0.04	0.50809	D	0.007	0.14184	B	0.003	0.08700	B	0.157346	0.17772	N	0.583284	0.960667	0.38193	D	1.355	0.33814	L	0.9	0.45248	T	-1.76	0.41618	N	0.198	0.21839	-1.0035	0.28903	T	0.109	0.39320	T	10	0.026383966	0.00806	T	0.045089	0.61808	D	0.061	0.17616	.	.	0.0675242888579	0.06100	0.31857703184796843	0.31770	.	.	0.460419476032	0.33367	T	0.012078	0.10676	T	-0.374872	0.03355	T	-0.444189	0.28340	T	0.0188478194095808	0.00595	T	0.669433	0.27806	T	0.07451279	0.16725	0.055649504	0.09800	0.07451279	0.16725	0.055649504	0.09800	-4.795	0.34533	T	.	.	0.080	0.07602	B	.	.	1.926612	0.24471	16.41	0.99546987806850962	0.70898	0.32063	0.24493	N	AEFBI	0.110778	0.21955	N	-0.609091487301386	0.18671	0.9711796	-0.626902968846373	0.18803	1.006071	0.982288454794017	0.30377	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	4.76	2.9	0.32809	0.650000	0.24544	.	.	0.599000	0.40250	0.209000	0.24412	0.984000	0.30665	0.152000	0.20376	0.0:0.7662:0.1503:0.0835	8.901	0.34654	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004578	0.000000	0.010899	0.002941	0.050000	0.000000	0.000000	0.000000	0.05	1025.43	39	chr8	143441023	.	C	T	1025.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.192;DP=410;ExcessHet=0;FS=1.801;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.338;SOR=0.879	GT:AD:DP:GQ:PL	0/1:37,47:84:99:1037,0,765	9	0	1	0
chr8	143726127	143726127	T	C	exonic	FAM83H	.	nonsynonymous SNV	FAM83H:NM_198488:exon5:c.A3334G:p.S1112G	Amelogenesis imperfecta, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00961944115198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.741e-06	2.736e-06	4.091e-06	1.378e-06	2.324e-05	6.4e-07	4.3e-07	3.86e-06	1.44e-06	0	0	0	0	0	0	1.8e-06	0	2.324e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.30235	T	0.189	0.28575	T	0.001	0.07471	B	0.001	0.04355	B	0.005725	0.32555	U	0.127393	1	0.08975	N	0.805	0.20218	L	2.35	0.16217	T	-1.94	0.45042	N	0.094	0.07398	-1.0076	0.27665	T	0.021	0.08917	T	10	0.07820645	0.12438	T	0.009619	0.25153	T	0.041	0.10877	0.24	0.17218	0.043077524339	0.03247	0.1770575364561284	0.17624	0.29954529825	0.32320	0.664747953415	0.62088	T	0.009545	0.08688	T	-0.298953	0.08759	T	-0.667202	0.07789	T	0.151396483182907	0.17214	T	.	.	.	0.11425628	0.26977	0.07445161	0.16288	0.11425628	0.26976	0.07445161	0.16288	-3.61	0.18002	T	.	.	0.064	0.01668	B	.	.	2.806968	0.36937	20.4	0.9841676847466001	0.41234	0.77866	0.38337	D	AEFDGBCI	0.203106	0.32964	N	-0.635419671341757	0.17888	0.9242987	-0.545730483743071	0.20919	1.129256	0.999461184664847	0.39843	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	4.96	1.21	0.20240	2.006000	0.40493	.	.	0.663000	0.56723	1.000000	0.71638	0.841000	0.27301	0.983000	0.59808	0.1373:0.2122:0.0:0.6505	4.373	0.10691	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	413.43	33	chr8	143726127	.	T	C	413.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.507;DP=400;ExcessHet=0;FS=2.3;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.89;ReadPosRankSum=-1.76;SOR=0.89	GT:AD:DP:GQ:PL	0/1:39,21:60:99:425,0,943	9	0	1	0
chr8	144040161	144040161	G	A	exonic	SPATC1	.	nonsynonymous SNV	SPATC1:NM_001134374:exon2:c.G464A:p.S155N,SPATC1:NM_198572:exon2:c.G464A:p.S155N	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0140488272469	0.0039	0.00139776	0.0036	0.0004	0.0024	0	0.0025	0.0057	0.0026	0.0004	0.0035187	544	154602	rs138478557	0.0044	0.0043	0.0045	0.0042	0.0051	0.0043	0.0042	0.0050	0.0050	0.0007	0.0028	0.0049	0	0.0019	0.0002	0.0051	0.0037	0.0004	0.0029	0.0029	0.0031	0.0027	0.0047	0.0027	0.0026	0.0043	0.0041	0.0009	0	0.0029	0.0029	0	0.0023	0	0.0047	0.0014	0.0004	0.096	0.51248	T	0.026	0.55759	D	0.011	0.15914	B	0.021	0.19346	B	0.535283	0.11594	N	0.791459	1	0.08975	N	1.4	0.35362	L	0.74	0.50459	T	-1.42	0.36189	N	0.244	0.32921	-0.9586	0.39442	T	0.138	0.45508	T	10	0.005864918	0.00131	T	0.014049	0.33902	T	0.084	0.24469	.	.	0.0551355673512	0.04727	0.2771659613188718	0.27629	0.0873643535745	0.09851	0.353264987469	0.18401	T	0.006547	0.05980	T	-0.579818	0.00193	T	-0.60331	0.12535	T	0.0243897799850208	0.01194	T	0.592541	0.21854	T	0.036454618	0.04487	0.1028841	0.24670	0.036454618	0.04487	0.1028841	0.24670	-5.163	0.39043	T	.	.	0.133	0.37615	B	.;.	.;.	1.061127	0.14430	11.00	0.97904975355033841	0.36773	0.08125	0.14092	N	AEFDBCI	0.075290	0.15115	N	-0.552097657439212	0.20418	1.076207	-0.720512267285111	0.16450	0.8702931	0.756420687459965	0.23441	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.9	-0.725	0.10610	0.569000	0.23342	.	.	0.676000	0.76740	0.006000	0.17386	0.000000	0.08366	0.028000	0.12845	0.1959:0.4867:0.3174:0.0	5.838	0.17875	970	0.06235	Speriolin, 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	0.001008	0.000000	0.000000	0.000000	0.000000	0.008621	0.003067	0.000000	0.05	1020.43	34	chr8	144040161	.	G	A	1020.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.629;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.066;SOR=0.622	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1032,0,1056	9	0	1	0
chr8	144242439	144242439	G	A	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon22:c.G2249A:p.R750Q,MROH1:NM_032450:exon23:c.G2249A:p.R750Q	.	351	1170	1	0	0	1	0.000427168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0201114918104	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438420410	6.366e-05	6.361e-05	4.894e-05	7.596e-05	0.0003	4.796e-05	4.222e-05	0.0002	0.0002	0	0	0	0	0	0	2.859e-05	0.0002	0.0003	1.969e-05	1.968e-05	1.284e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.566	0.06957	T	0.482	0.11829	T	0.005	0.12996	B	0.001	0.04355	B	0.570738	0.11241	N	0.779066	1	0.28026	N	-0.59	0.02258	N	-0.27	0.68616	T	0.66	0.02297	N	0.069	0.08646	-1.0365	0.18388	T	0.104	0.38144	T	10	0.060748607	0.07510	T	0.020111	0.42635	T	0.067	0.19503	0.428	0.47515	0.0934897674506	0.08844	0.14719748569554453	0.14641	0.248058895731	0.27363	0.214972689748	0.01040	T	0.009756	0.08861	T	-0.213094	0.18945	T	-0.543871	0.17918	T	0.175988093018532	0.18978	T	0.816918	0.47330	T	0.050782643	0.09228	0.06674157	0.13714	0.050782643	0.09227	0.06674157	0.13714	-7.885	0.60284	D	.	.	0.064	0.01668	B	.;.;.	.;.;.	-0.511297	0.01831	0.145	0.94400198073929764	0.24788	0.01107	0.04054	N	AEFI	0.029039	0.02668	N	-1.24677708073421	0.04342	0.1957912	-1.25761629799674	0.05019	0.2381764	3.93051906095687E-5	0.03775	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	4.64	-3.81	0.04013	-0.066000	0.11556	-1.916000	0.04501	-0.244000	0.07312	0.003000	0.16062	0.000000	0.08366	0.016000	0.10718	0.7834:0.0:0.2166:0.0	12.489	0.55228	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	0	0	.	.	.	.	.	.	.	.	0.05	766.43	33	chr8	144242439	.	G	A	766.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.228;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.941;SOR=0.668	GT:AD:DP:GQ:PL	0/1:31,33:64:99:778,0,710	9	0	1	0
chr8	144396636	144396636	G	A	exonic	CPSF1	.	nonsynonymous SNV	CPSF1:NM_013291:exon25:c.C2788T:p.R930C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0130822269914	.	.	.	.	.	.	.	.	.	.	.	.	.	rs968746867	8.896e-06	9.577e-06	1.089e-05	6.878e-06	1.16e-05	4.96e-06	3.83e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.893e-06	1.656e-05	1.16e-05	6.57e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.013	0.63109	D	0.183	0.29179	B	0.033	0.22329	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.995	0.54099	M	.	.	.	.	.	.	0.81	0.80572	-0.9578	0.39589	T	0.139	0.45753	T	10	0.7281828	0.74116	D	0.013082	0.32199	T	.	.	0.578	0.70347	0.669087604336	0.66629	0.6794547155092943	0.67884	.	.	0.871421337128	0.92771	D	0.327688	0.69817	T	0.335748	0.85549	D	0.259988	0.86091	D	0.772838234901428	0.44610	D	.	.	.	0.4351175	0.63087	0.13668132	0.32691	0.4351175	0.63087	0.13668132	0.32690	-8.366	0.63538	D	.	.	0.236	0.49893	B	.;.	.;.	4.727678	0.76118	26.5	0.99798398027816082	0.88372	0.93046	0.57190	D	AEFBCI	0.497501	0.53199	N	0.0948572691613817	0.46223	2.865995	0.222638109315505	0.51105	3.296058	0.389666171682119	0.20035	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.41	5.41	0.78313	4.220000	0.58364	9.748000	0.81461	0.616000	0.49467	0.995000	0.38783	1.000000	0.68203	0.770000	0.36519	0.0:0.0:1.0:0.0	14.718	0.68899	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	.	.	.	.	.	.	.	.	0.05	1509.43	37	chr8	144396636	.	G	A	1509.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=461;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.283;SOR=0.592	GT:AD:DP:GQ:PL	0/1:51,61:112:99:1521,0,1113	9	0	1	0
chr9	17085	17085	C	T	exonic	WASHC1	.	nonsynonymous SNV	WASHC1:NM_001378090:exon7:c.G763A:p.G255S,WASHC1:NM_182905:exon7:c.G763A:p.G255S	.	532	986	3	1	0	5	0.00252908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0.000399361	0.0033	0.0023	0.0014	0.0010	0.0024	0.0044	0.0016	0.0024	0.002128	329	154602	rs199659819	0.0013	0.0017	0.0012	0.0014	0.0019	0.0013	0.0013	0.0017	0.0016	0.0004	0.0006	0.0014	0.0003	0.0028	0.0013	0.0013	0.0015	0.0019	0.0013	0.0019	0.0013	0.0013	0.0021	0.0011	0.0011	0.0015	0.0014	0.0006	0	0.0007	0.0026	0	0.0012	0.0045	0.0018	0	0.0021	.	.	.	0.014	0.62352	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	.	.	.	3.49	0.92661	M	.	.	.	.	.	.	0.914	0.91621	.	.	.	.	.	.	.	0.26174238	0.43636	T	.	.	.	.	.	.	.	0.232513804876	0.22884	0.7356777179126428	0.73512	.	.	0.536515474319	0.43954	T	0.300206	0.67271	T	-0.0603366	0.42855	T	0.0227257	0.71805	D	.	.	.	0.824218	0.48580	T	0.052217238	0.09705	0.24027686	0.49397	0.052217238	0.09704	0.24027686	0.49396	-8.534	0.64654	D	.	.	0.161	0.35602	B	.	.	3.881178	0.56413	23.7	0.93954767271387951	0.24018	0.69122	0.34064	D	AEFI	.	.	.	.	.	.	.	.	.	0.0426668246593986	0.14536	0.294411	0.05044	0	0.332522	0.05826	0	0.277913	0.05378	0	0.347871	0.05795	0	0.762712	0.45224	1.16	1.16	0.19936	3.960000	0.56459	0.172000	0.15530	0.288000	0.18739	0.998000	0.41325	0.000000	0.08366	0.334000	0.25294	0.0:1.0:0.0:0.0	8.303	0.31183	982	0.03397	WASH1, WAHD 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	0.000648	0.000000	0.000000	0.000000	0.000000	0.009091	0.000000	0.000000	0.1	1030.78	19	chr9	17085	.	C	T	1030.78	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.61;DP=189;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1263;MLEAC=2;MLEAF=0.1;MQ=38.08;MQRankSum=0.201;QD=29.45;ReadPosRankSum=2;SOR=1.214	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,20:22:24:0|1:17060_C_A:709,0,24:17060	8	0	2	0
chr9	32632083	32632083	T	C	exonic	TAF1L	.	nonsynonymous SNV	TAF1L:NM_153809:exon1:c.A3497G:p.D1166G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00250695143186	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs772948085	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.011	0.64786	D	0.945	0.53279	P	0.621	0.51426	P	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	2.545	0.74286	M	2.06	0.20523	T	-3.29	0.65742	D	0.38	0.42149	-1.1102	0.03053	T	0.048	0.20355	T	10	0.3183853	0.49237	T	0.002507	0.05009	T	0.092	0.26621	0.292	0.25400	0.508994031223	0.50540	0.5128257355736089	0.51204	0.224960025971	0.25034	0.572577953339	0.49041	T	0.146569	0.48423	T	-0.218929	0.18139	T	-0.455398	0.27101	T	0.734108030796051	0.42424	D	0.933207	0.74971	D	0.27684668	0.50744	0.2090441	0.45233	0.27684668	0.50744	0.2090441	0.45232	-6.622	0.51221	T	.	.	0.085	0.10208	B	.	.	3.418495	0.47452	22.5	0.98749333949723916	0.45633	0.56687	0.30181	D	AEFDGBI	0.318523	0.42219	N	-0.115893215448414	0.36701	2.124927	-0.269284493234922	0.29116	1.628701	0.999987714634145	0.51787	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	0.479	0.479	0.16007	5.100000	0.64395	7.720000	0.67265	0.266000	0.18458	1.000000	0.71638	1.000000	0.68203	0.108000	0.18652	0.0:1.0E-4:0.0:0.9999	5.196	0.14561	836	0.38045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	7490.14	43	chr9	32632083	.	T	C	7490.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.3;DP=1152;ExcessHet=0.2348;FS=0.523;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.99;MQRankSum=0;QD=10.55;ReadPosRankSum=1.26;SOR=0.638	GT:AD:DP:GQ:PL	0/1:151,150:301:99:3628,0,3667	8	0	2	0
chr9	33922970	33922970	G	A	exonic	UBAP2	.	nonsynonymous SNV	UBAP2:NM_001282530:exon11:c.C785T:p.T262I,UBAP2:NM_001370067:exon25:c.C2909T:p.T970I,UBAP2:NM_001370064:exon26:c.C2795T:p.T932I,UBAP2:NM_001370068:exon26:c.C2954T:p.T985I,UBAP2:NM_001370059:exon27:c.C3068T:p.T1023I,UBAP2:NM_001370062:exon27:c.C3068T:p.T1023I,UBAP2:NM_018449:exon27:c.C3068T:p.T1023I,UBAP2:NM_001370066:exon28:c.C2954T:p.T985I	.	421	1094	7	0	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0293956563523	7.7e-05	0.000599042	0.0004	0	8.643e-05	0.0001	0	4.496e-05	0.0022	0.0023	0.0003169	49	154602	rs374181118	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0002	0.0022	0.0021	0	0.0002	0	0	0	0.0010	4.047e-05	0.0002	0.0025	9.853e-05	9.843e-05	6.426e-05	0.0001	0.0023	6.004e-05	4.878e-05	0.0013	0.0010	0	0	6.535e-05	0	0	0	0.0034	1.471e-05	0.0005	0.0023	0.15	0.24661	T	0.004	0.74150	D	0.808	0.45299	P	0.245	0.38823	B	0.000000	0.84330	D	0.089152	0.999962	0.54805	D	2.54	0.74080	M	1.03	0.40469	T	-4.89	0.81431	D	0.718	0.77226	-0.8423	0.52493	T	0.150	0.47699	T	10	0.024849951	0.00699	T	0.029396	0.51914	D	0.235	0.53788	.	.	0.082315109003	0.07666	0.3981630486624566	0.39731	0.069739081676	0.07810	0.737867593765	0.72659	T	0.214892	0.57661	T	-0.321923	0.06741	T	-0.241054	0.50694	T	0.191613644361496	0.19939	T	0.950005	0.80823	D	0.39522016	0.60400	0.27080792	0.52975	0.39522016	0.60400	0.27080792	0.52974	-9.128	0.71188	D	.	.	0.299	0.57136	B	.;.;.	.;.;.	3.630483	0.51428	23.1	0.98849069210958163	0.47254	0.99374	0.95195	D	AEFDGBCI	0.784285	0.71502	D	0.161616098114796	0.49364	3.137572	0.168237933955054	0.48116	3.031985	0.999999999993714	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.72	4.82	0.61641	6.141000	0.71499	5.793000	0.49883	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.739000	0.35404	0.0:0.0:0.8649:0.1351	16.085	0.80851	302	0.87871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1305.43	34	chr9	33922970	.	G	A	1305.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.201;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-2.63;SOR=0.649	GT:AD:DP:GQ:PL	0/1:53,60:113:99:1317,0,1136	9	0	1	0
chr9	34311196	34311196	G	A	exonic	KIF24	.	nonsynonymous SNV	KIF24:NM_194313:exon2:c.C151T:p.R51C	.	439	1082	1	0	0	1	0.000461894	.	.	.	737109	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.330	.	0.0078	0.0061901	0.0025	0.0272	0.0017	0.0001	0.0002	0.0001	0.0012	0.0001	0.0022121	342	154602	rs111556715	0.0008	0.0008	0.0009	0.0007	0.0255	0.0008	0.0007	0.0240	0.0235	0.0255	0.0016	0	2.519e-05	3.746e-05	0.0010	0.0001	0.0016	0.0001	0.0069	0.0069	0.0070	0.0068	0.0244	0.0066	0.0064	0.0232	0.0227	0.0244	0	0.0014	0	0	0.0002	0.0068	7.353e-05	0.0038	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.989	0.78396	D	0.001016	0.40652	N	0.000000	0.999866	0.52935	D	1.04	0.26193	L	2.58	0.13434	T	-5.6	0.89985	D	0.666	0.67477	-1.1651	0.00640	T	0.027	0.11397	T	10	0.009183645	0.00207	T	.	.	.	0.330	0.65226	.	.	0.772208786841	0.77012	0.7323753136800658	0.73182	.	.	0.72260928154	0.70427	T	0.157446	0.50005	T	-0.420628	0.01694	T	-0.358056	0.38278	T	0.0585444750364075	0.06937	T	0.964704	0.86917	D	0.5763813	0.71410	0.5984375	0.76678	0.5763813	0.71411	0.5984375	0.76679	-10.076	0.74366	D	.	.	0.471	0.73095	A	.;.	.;.	5.277315	0.88614	29.7	0.99940592645256632	0.99767	0.96378	0.68846	D	AEFBI	0.774573	0.70824	D	0.675636878474257	0.78035	6.791357	0.707150885026823	0.82922	7.888542	0.999999999942524	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.48	5.48	0.80675	7.272000	0.77907	9.877000	0.82171	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.350	0.94368	227	0.91186	Sterile alpha motif domain|Sterile alpha motif 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	0.005035	0.005051	0.009511	0.002924	0.000000	0.008621	0.000000	0.000000	0.1	1992.14	43	chr9	34311196	.	G	A	1992.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.74;DP=493;ExcessHet=0.2348;FS=0.565;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=1.2;SOR=0.768	GT:AD:DP:GQ:PL	0/1:57,49:106:99:1279,0,1428	8	0	2	0
chr9	34371187	34371187	G	T	exonic	MYORG	.	nonsynonymous SNV	MYORG:NM_020702:exon2:c.C1757A:p.A586D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.788	0.0651952152092	.	.	1.933e-05	0	0	0	0	1.751e-05	0	6.604e-05	1.29e-05	2	154602	rs764986395	4.8e-06	5.472e-06	4.092e-06	5.516e-06	0.0003	2e-06	1.28e-06	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	9.007e-07	0	4.649e-05	6.563e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.008	0.67890	D	0.975	0.58077	D	0.795	0.57940	P	0.000070	0.52346	D	0.167236	0.999817	0.49394	D	.	.	.	.	.	.	.	.	.	0.766	0.76388	0.633	0.92323	D	0.801	0.93280	D	10	0.9031193	0.89674	D	0.065195	0.69505	D	0.788	0.92988	0.744	0.87570	0.497547018531	0.49389	0.9311420872476007	0.93093	1.70097506575	0.90296	0.581189155579	0.50253	T	0.693982	0.91128	D	0.179122	0.71962	D	0.22312	0.84331	D	0.936030507087708	0.60470	D	0.927907	0.73422	D	0.931374	0.94375	0.8455174	0.91204	0.931374	0.94375	0.8455174	0.91205	-14.806	0.95381	D	0.6483688178186401	0.72014	0.931	0.85090	P	.	.	5.320237	0.89297	29.9	0.99586427274130773	0.73336	0.96629	0.70104	D	AEFDBHCI	0.922880	0.89852	D	0.668495766729787	0.77570	6.700222	0.653155233828122	0.78847	6.959097	0.999999999998104	0.74766	0.696267	0.57585	0	0.61073	0.52368	0	0.691665	0.62940	0	0.683762	0.67416	0	.	.	5.35	5.35	0.76297	8.190000	0.89672	11.814000	0.97026	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:0.0:1.0:0.0	18.055	0.89288	263	0.89692	.	.	.	.	.	.	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	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	2954.43	37	chr9	34371187	.	G	T	2954.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.212;DP=458;ExcessHet=0;FS=2.354;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=24.42;ReadPosRankSum=0.287;SOR=0.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,74:121:99:0|1:34371187_G_T:2966,0,1747:34371187	9	0	1	0
chr9	34371188	34371188	C	T	exonic	MYORG	.	nonsynonymous SNV	MYORG:NM_020702:exon2:c.G1756A:p.A586T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.025866675434	.	.	1.941e-05	0	0	0	0	1.758e-05	0	6.629e-05	1.29e-05	2	154602	rs376952902	5.487e-06	8.209e-06	5.457e-06	5.517e-06	0.0003	2.36e-06	1.71e-06	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	1.801e-06	0	4.651e-05	1.313e-05	1.312e-05	0	2.684e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	0.115	0.36630	T	0.304	0.32663	B	0.159	0.34693	B	0.000070	0.52346	D	0.167236	0.995382	0.42667	D	.	.	.	.	.	.	.	.	.	0.275	0.31140	-0.0828	0.80492	T	0.576	0.84707	D	10	0.252778	0.42636	T	0.025867	0.48816	D	0.389	0.70521	0.46	0.52753	0.357313475932	0.35345	0.6624824112905076	0.66185	1.18304341311	0.80068	0.481098234653	0.36208	T	0.254383	0.62503	T	-0.0774799	0.40123	T	-0.349071	0.39312	T	0.657243728637695	0.38775	D	0.937106	0.76374	D	0.13589452	0.31524	0.2643942	0.52258	0.13589452	0.31523	0.2643942	0.52257	-7.534	0.57849	D	0.16988942408989954	0.21330	0.126	0.26794	B	.	.	4.183733	0.63000	24.5	0.97637487529322975	0.35057	0.90707	0.52109	D	AEFDBHCI	0.523728	0.54721	D	0.0443805760774219	0.43884	2.672757	0.184324478874152	0.48988	3.10756	0.999999993963959	0.74766	0.696267	0.57585	0	0.61073	0.52368	0	0.691665	0.62940	0	0.683762	0.67416	0	.	.	5.35	5.35	0.76297	5.435000	0.66282	7.661000	0.64234	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.2783:0.7217:0.0:0.0	11.838	0.51613	263	0.89692	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2954.43	37	chr9	34371188	.	C	T	2954.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.637;DP=457;ExcessHet=0;FS=2.354;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=24.42;ReadPosRankSum=0.093;SOR=0.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,74:121:99:0|1:34371187_G_T:2966,0,1747:34371187	9	0	1	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353356	0.86736	D	0.269795	0.86563	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192679	0.94764	34	0.9954556175864131	0.70773	0.99856	0.99854	D	AEFBI	.	.	.	1.15891206100683	0.99082	20.59108	0.998694741300778	0.98602	18.76144	0.999999999999889	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.137589	0.03823	0	0.109871	0.03346	0	0.987846	0.96420	5.5	5.5	0.81386	9.434000	0.96726	11.731000	0.94998	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.387	0.94553	917	0.20147	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.35	839.95	35	chr9	86018822	.	G	C	839.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.846;DP=779;ExcessHet=7.0302;FS=147.352;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=1.58;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,12:61:74:0|1:86018822_G_C:74,0,1395:86018822	3	0	7	0
chr9	87919255	87919255	C	T	exonic	SPATA31C1	.	nonsynonymous SNV	SPATA31C1:NM_001145124:exon2:c.C190T:p.R64C	.	368	1127	21	5	1	32	0.0135667	0	0.008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0019	0	0.0002	0	0	0.0002	0.0022	0.0122	0.0007684	20	26028	rs199847889	0.0008	0.0008	0.0005	0.0012	0.0117	0.0008	0.0008	0.0111	0.0109	0	6.905e-05	0	2.729e-05	3.83e-05	0.0037	6.963e-05	0.0010	0.0117	0.0005	0.0005	0.0003	0.0008	0.0132	0.0004	0.0004	0.0106	0.0097	0	0	0.0003	0	0	0	0.0068	0.0001	0.0005	0.0132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004640	0.000000	0.001370	0.000000	0.062500	0.000000	0.007407	0.016393	0.05	5681.43	518	chr9	87919255	.	C	T	5681.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.98;DP=2664;ExcessHet=0;FS=1.094;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.97;MQRankSum=0;QD=10.27;ReadPosRankSum=0.433;SOR=0.783	GT:AD:DP:GQ:PL	0/1:297,256:553:99:5693,0,6428	9	0	1	0
chr9	87923071	87923071	G	T	exonic	SPATA31C1	.	nonsynonymous SNV	SPATA31C1:NM_001145124:exon4:c.G3164T:p.S1055I	.	426	1045	48	3	0	54	0.0251866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.00399361	0.0043	0.0003	0.0040	0	0.0006	0.0034	0.0067	0.0139	0.0035705	552	154602	rs376807700	0.0027	0.0027	0.0022	0.0032	0.0231	0.0026	0.0026	0.0199	0.0187	0.0002	0.0032	0.0112	0	0.0004	0.0231	0.0017	0.0043	0.0139	0.0022	0.0022	0.0020	0.0025	0.0143	0.0020	0.0019	0.0116	0.0106	0.0003	0	0.0037	0.0107	0	0.0002	0.0170	0.0022	0.0038	0.0143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018765	0.016949	0.012329	0.017699	0.100000	0.017544	0.023077	0.037190	0.05	3110.43	35	chr9	87923071	.	G	T	3110.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.281;DP=727;ExcessHet=0;FS=3.889;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.39;MQRankSum=-11.14;QD=10.65;ReadPosRankSum=-0.105;SOR=0.922	GT:AD:DP:GQ:PL	0/1:159,133:292:99:3122,0,3861	9	0	1	0
chr9	88132330	88132330	C	T	exonic	SPATA31C2	.	nonsynonymous SNV	SPATA31C2:NM_001166137:exon4:c.G707A:p.R236Q,SPATA31C2:NM_001350978:exon4:c.G707A:p.R236Q	.	415	1076	28	3	0	34	0.0155535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0017	0.0002	0.0006	0	0	0.0002	0.0033	0.0109	0.0014489	224	154602	rs538555577	0.0008	0.0008	0.0005	0.0012	0.0116	0.0008	0.0008	0.0110	0.0108	0	0.0003	0	2.527e-05	0	0.0041	9.641e-05	0.0010	0.0116	0.0005	0.0005	0.0002	0.0009	0.0122	0.0005	0.0004	0.0097	0.0088	0.0001	0	0.0003	0	0	0	0.0034	0.0002	0.0009	0.0122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006757	0.000000	0.002725	0.000000	0.062500	0.008621	0.010274	0.020161	0.05	2969.43	38	chr9	88132330	.	C	T	2969.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.941;DP=571;ExcessHet=0;FS=1.057;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.86;MQRankSum=-1.958;QD=13.88;ReadPosRankSum=0.13;SOR=0.618	GT:AD:DP:GQ:PL	0/1:98,116:214:99:2981,0,2273	9	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	.	.	.	.	.	.	.	.	0.5	7760.04	386	chr9	92080918	.	G	C	7760.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.684;DP=3889;ExcessHet=22.563;FS=438.653;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.08;SOR=14.782	GT:AD:DP:GQ:PL	0/1:238,149:414:99:840,0,3511	0	0	10	0
chr9	95249215	95249215	G	A	exonic	FANCC	.	nonsynonymous SNV	FANCC:NM_000136:exon2:c.C77T:p.S26F,FANCC:NM_001243743:exon2:c.C77T:p.S26F,FANCC:NM_001243744:exon2:c.C77T:p.S26F	Fanconi anemia, complementation group C, Autosomal recessive	0	1494	27	1	0	29	0.0096122	.	.	YES	138040	Fanconi_anemia_complementation_group_C|Fanconi_anemia_complementation_group_A|Fanconi_anemia|Hereditary_cancer-predisposing_syndrome|not_provided|Malignant_tumor_of_breast|FANCC-related_disorder|not_specified	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.230	0.0275263375515	0.0050	0.00259585	0.0047	0.0013	0.0031	0	0.0051	0.0068	0.0022	0.0017	0.0045924	710	154602	rs1800361	0.0059	0.0059	0.0060	0.0058	0.0231	0.0058	0.0057	0.0199	0.0187	0.0017	0.0037	0.0090	0	0.0051	0.0231	0.0065	0.0059	0.0019	0.0050	0.0050	0.0050	0.0051	0.0076	0.0047	0.0046	0.0066	0.0064	0.0010	0	0.0076	0.0072	0	0.0060	0.0204	0.0071	0.0100	0.0015	0.004	0.65419	D	0.01	0.92824	D	0.998	0.77913	D	0.948	0.72692	D	0.134198	0.18525	N	0.590317	0.845679	0.35138	D	1.95	0.52479	M	0.35	0.58029	T	-3.47	0.74742	D	0.261	0.35301	-0.4889	0.69047	T	0.207	0.56526	T	10	0.010334253	0.00230	T	0.027526	0.50329	D	0.230	0.53062	.	.	0.869904421163	0.86864	0.23227214108986666	0.23142	0.361563956541	0.37815	0.37709197402	0.21843	T	0.255847	0.62669	T	-0.332421	0.05929	T	-0.244444	0.50364	T	0.0112835168787181	0.00167	T	0.882912	0.66351	D	0.19768904	0.41643	0.20177399	0.44173	0.1658343	0.36879	0.23526555	0.48765	-3.604	0.17915	T	0.6895207082579828	0.76703	0.217	0.51600	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.274750	0.65067	24.8	0.99773894073725566	0.86174	0.88065	0.47833	D	AEFBI	0.278631	0.39287	N	0.561067129567012	0.70757	5.548846	0.526296077947164	0.69767	5.407329	0.819349698334001	0.24496	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.13	4.22	0.49153	3.985000	0.56640	6.910000	0.56896	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0741:0.1439:0.782:0.0	9.548	0.38458	184	0.92813	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.020141	0.020202	0.024457	0.035088	0.000000	0.025862	0.003049	0.007576	0.1	1512.14	33	chr9	95249215	.	G	A	1512.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.928;DP=432;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=1.91;SOR=0.666	GT:AD:DP:GQ:PL	0/1:45,27:72:99:598,0,1050	8	0	2	0
chr9	98756533	98756533	G	A	exonic	ANKS6	.	nonsynonymous SNV	ANKS6:NM_173551:exon12:c.C2213T:p.T738M	Nephronophthisis 16, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3719274	Nephronophthisis_16	MONDO:MONDO:0014158,MedGen:C3809320,OMIM:615382,Orphanet:655	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.339	0.168269156822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.138e-05	2.326e-05	2.881e-05	1.387e-05	6.107e-05	1.532e-05	1.335e-05	1.383e-05	1.155e-05	6.107e-05	0	0	0	0	0	2.077e-05	6.681e-05	2.38e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999953	0.52396	D	0.805	0.20218	L	1.61	0.71662	T	-3.43	0.67359	D	0.725	0.72656	0.039	0.83038	D	0.504	0.81300	D	10	0.5921988	0.66443	D	0.168269	0.84641	D	0.339	0.66106	0.217	0.13788	0.855690863419	0.85429	0.38394533692529653	0.38309	0.494821220488	0.48035	0.746311724186	0.73902	T	0.238079	0.60591	T	0.134613	0.67807	D	-0.0444136	0.67402	D	0.977276027202606	0.71767	D	0.956304	0.85620	D	0.40630674	0.61167	0.4023128	0.64717	0.40630674	0.61168	0.4023128	0.64717	-7.16	0.55193	T	.	.	0.637	0.71382	P	.;.	.;.	5.371383	0.90048	31	0.99923708022413793	0.98917	0.98769	0.86615	D	AEFDBI	0.852244	0.76914	D	0.796710501968657	0.85900	8.716328	0.780035863650046	0.88373	9.558	0.999999915689815	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	9.204000	0.94175	11.692000	0.94371	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	16.576	0.84487	594	0.68584	.;.	.	.	.	.	.	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	0.002024	0.005051	0.001362	0.000000	0.000000	0.000000	0.000000	0.003817	0.05	959.43	36	chr9	98756533	.	G	A	959.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.87;DP=403;ExcessHet=0;FS=1.723;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.079;SOR=0.608	GT:AD:DP:GQ:PL	0/1:50,39:89:99:971,0,1211	9	0	1	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T,ZNF462:NM_021224:exon9:c.T6809C:p.I2270T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2778	2408.23	143	chr9	106974250	.	T	C	2408.23	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-3.227;DP=1108;ExcessHet=2.8389;FS=252.583;InbreedingCoeff=-0.3793;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.41;ReadPosRankSum=2.05;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,50:148:99:0|1:106974250_T_C:714,0,2569:106974250	4	0	5	1
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_001136562:exon2:c.G815C:p.R272T,PALM2AKAP2:NM_001198656:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_007203:exon8:c.G1508C:p.R503T,PALM2AKAP2:NM_147150:exon8:c.G1508C:p.R503T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0618637391386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	0.0004	4.089e-06	2.753e-06	3.602e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.57104	D	0.949	0.65571	P	0.496	0.73820	P	0.002376	0.36688	N	0.265487	0.528475	0.31955	D	2.125	0.59049	M	0.88	0.46028	T	-1.48	0.56144	N	0.354	0.44857	-0.5485	0.66844	T	0.199	0.55442	T	10	0.25693607	0.43103	T	0.061864	0.68469	D	0.118	0.32913	0.194	0.10571	0.52468985305	0.52114	0.3132723605175298	0.31240	0.508839714498	0.49031	0.421055316925	0.27981	T	0.068456	0.33461	T	-0.00465218	0.51011	T	-0.244459	0.50362	T	0.82229095697403	0.47942	D	0.916508	0.71628	D	0.14253841	0.32799	0.105709225	0.25417	0.14253841	0.32798	0.105709225	0.25416	-6.736	0.54231	T	.	.	0.488	0.66996	A	.;.;.;.;.;.	.;.;.;.;.;.	3.479942	0.48587	22.6	0.93161729188529674	0.22814	0.93481	0.58334	D	AEFBCIJ	0.371545	0.45752	N	0.194427995474043	0.50931	3.278602	0.1677655242984	0.48093	3.029822	0.999992215884336	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.63	4.73	0.59485	3.590000	0.53726	5.886000	0.50702	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1723:0.0:0.8277:0.0	8.596	0.32880	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	752.88	81	chr9	110137052	.	G	C	752.88	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.8;DP=648;ExcessHet=1.5895;FS=269.449;InbreedingCoeff=-0.3571;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=0.646;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,15:53:99:0|1:110137052_G_C:300,0,1298:110137052	3	0	4	3
chr9	110137054	110137054	G	A	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_001136562:exon2:c.G817A:p.A273T,PALM2AKAP2:NM_001198656:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_007203:exon8:c.G1510A:p.A504T,PALM2AKAP2:NM_147150:exon8:c.G1510A:p.A504T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0262409829576	.	.	1.678e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs777202417	6.173e-06	6.157e-06	8.191e-06	4.136e-06	0.0002	2.91e-06	2.1e-06	0.0001	7.819e-05	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.084	0.42976	T	0.873	0.70673	P	0.461	0.78396	P	0.000361	0.45440	D	0.192211	0.554502	0.32161	D	1.95	0.52479	M	0.82	0.48142	T	-0.38	0.20145	N	0.196	0.26596	-0.6067	0.64540	T	0.231	0.59732	T	10	0.15551329	0.29309	T	0.026241	0.49161	D	0.058	0.16647	0.201	0.11522	0.606491963429	0.60334	0.1585652680794885	0.19118	0.413830099629	0.42075	0.353128492832	0.18382	T	0.05449	0.29740	T	-0.32145	0.06780	T	-0.414803	0.31673	T	0.136570181284112	0.15976	T	0.914109	0.69400	D	0.07271283	0.16195	0.093768194	0.22163	0.07271283	0.16195	0.093768194	0.22162	-5.913	0.46163	T	.	.	0.123	0.36653	B	.;.;.;.;.;.	.;.;.;.;.;.	3.350669	0.46210	22.3	0.99576051814353395	0.72682	0.77969	0.38401	D	AEFBCIJ	0.274752	0.38987	N	0.18937847889013	0.50690	3.256583	0.211920241110118	0.50507	3.242088	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	693.98	81	chr9	110137054	.	G	A	693.98	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-2.298;DP=682;ExcessHet=1.5895;FS=212.426;InbreedingCoeff=-0.3085;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.44;ReadPosRankSum=1.5;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,15:53:99:0|1:110137052_G_C:300,0,1298:110137052	4	0	4	2
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	.	.	.	.	.	.	.	.	0.3333	1608.71	231	chr9	114406374	.	C	G	1608.71	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-3.344;DP=1986;ExcessHet=4.5998;FS=133.457;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=0.598;SOR=11.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:196,51:247:99:.:.:190,0,6235:.	3	0	6	1
chr9	122093114	122093114	G	A	exonic	TTLL11	.	nonsynonymous SNV	TTLL11:NM_001139442:exon1:c.C35T:p.A12V,TTLL11:NM_194252:exon1:c.C35T:p.A12V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.156356889813	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1023386889	2.158e-05	2.258e-05	2.349e-05	1.962e-05	0.0005	1.514e-05	1.309e-05	8.675e-05	3.606e-05	0	9.473e-05	0.0003	0	2.952e-05	0.0005	1.413e-05	1.784e-05	1.337e-05	2.632e-05	2.628e-05	2.572e-05	2.694e-05	5.887e-05	8.15e-06	5.15e-06	1.974e-05	1.126e-05	0	0	0	0	0	0	0	5.887e-05	0	0	0.012	0.58626	D	0.151	0.38891	T	0.034	0.20480	B	0.007	0.12992	B	0.000008	0.00162	U	2587.460000	0.999988	0.18198	N	0.895	0.22405	L	3.27	0.08106	T	-0.33	0.12472	N	0.04	0.04188	-0.9814	0.34678	T	0.013	0.04843	T	9	0.055910528	0.06185	T	0.156357	0.83714	D	0.048	0.13305	0.24	0.17218	0.0611884634855	0.05136	0.11513726430082681	0.11441	0.640380169956	0.57670	0.79608476162	0.81368	T	0.008181	0.07523	T	-0.325107	0.06488	T	-0.70477	0.05568	T	0.284829497337341	0.24374	T	0.473853	0.14122	T	0.10018273	0.23651	0.08887225	0.20749	0.10018273	0.23651	0.08887225	0.20748	-5.282	0.40543	T	.	.	0.1	0.21803	B	.;.	.;.	2.345207	0.30063	18.32	0.996466624910196	0.77005	0.00392	0.01969	N	AEFDGBHCI	0.056065	0.10334	N	-0.919954713679333	0.10376	0.4955212	-0.864403828831929	0.12942	0.6686504	0.999999999970455	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.608004	0.38603	0	0.603991	0.37454	0	.	.	4.73	1.82	0.24209	-0.222000	0.09195	0.550000	0.19412	0.566000	0.28629	0.000000	0.06391	0.061000	0.22037	0.943000	0.48514	0.1754:0.1553:0.5091:0.1601	2.111	0.03477	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	453.43	37	chr9	122093114	.	G	A	453.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.862;DP=348;ExcessHet=0;FS=1.414;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=1.21;SOR=0.469	GT:AD:DP:GQ:PL	0/1:15,18:33:99:465,0,459	9	0	1	0
chr9	122390342	122390342	G	A	exonic	PTGS1	.	nonsynonymous SNV	PTGS1:NM_001271164:exon9:c.G1297A:p.V433I,PTGS1:NM_001271165:exon9:c.G1114A:p.V372I,PTGS1:NM_000962:exon10:c.G1441A:p.V481I,PTGS1:NM_001271166:exon10:c.G1003A:p.V335I,PTGS1:NM_001271367:exon10:c.G1003A:p.V335I,PTGS1:NM_080591:exon10:c.G1330A:p.V444I,PTGS1:NM_001271368:exon11:c.G1255A:p.V419I	.	412	1099	10	1	0	12	0.00542986	.	.	.	3185198	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.250	.	0.0058	0.00658946	0.0076	0.0020	0.0057	0.0004	0.0068	0.0100	0.0057	0.0065	0.0073932	1143	154602	rs5794	0.0082	0.0082	0.0081	0.0082	0.0088	0.0080	0.0080	0.0086	0.0086	0.0024	0.0058	0.0118	0.0003	0.0074	0.0064	0.0088	0.0072	0.0076	0.0063	0.0063	0.0061	0.0064	0.0086	0.0060	0.0058	0.0080	0.0078	0.0025	0	0.0080	0.0081	0	0.0051	0.0136	0.0086	0.0095	0.0085	0.004	0.78490	D	0.01	0.76473	D	0.1	0.25713	B	0.108	0.31289	B	0.000066	0.52346	D	0.197844	0.963965	0.26002	N	0	0.06538	N	2.99	0.09262	T	-0.92	0.25118	N	0.225	0.25377	-1.0157	0.25110	T	0.012	0.04747	T	10	0.009871095	0.00221	T	.	.	.	0.250	0.55888	.	.	0.442363741745	0.43858	0.632608548182357	0.63194	0.271975426216	0.29707	0.484568476677	0.36686	T	0.136546	0.46898	T	-0.416541	0.01800	T	-0.360721	0.37969	T	0.0620336465735846	0.07485	T	0.873013	0.60027	D	0.2699408	0.50066	0.15628308	0.36596	0.2699408	0.50066	0.15628308	0.36595	-1.917	0.02914	T	.	.	0.105	0.24054	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.622330	0.34083	19.53	0.99004802753294774	0.50231	0.17537	0.19880	N	AEFDGBCIJ	0.092179	0.18663	N	-0.362090131955795	0.26831	1.467337	-0.184664653741837	0.32098	1.822901	0.999999998826456	0.74766	0.740787	0.97801	0	0.696367	0.67918	0	0.651303	0.49530	0	0.635259	0.50027	0	.	.	5.38	4.25	0.49658	7.512000	0.80617	8.123000	0.76630	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.9178:0.0:0.0822:0.0	9.787	0.39849	896	0.25515	.;.;.;.;.;.;.	.	.	PTGS1	Cells_Cultured_fibroblasts	.	Likely benign	0	0	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	0.014617	0.030303	0.005435	0.020468	0.000000	0.017241	0.015337	0.015152	0.05	915.43	40	chr9	122390342	.	G	A	915.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.678;SOR=0.739	GT:AD:DP:GQ:PL	0/1:37,38:75:99:927,0,792	9	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.5	6507.37	305	chr9	122724732	.	T	C	6507.37	.	AC=7;AF=0.5;AN=14;BaseQRankSum=7.17;DP=3293;ExcessHet=7.0302;FS=29.826;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=58.43;MQRankSum=-15.33;QD=2.86;ReadPosRankSum=-7.039;SOR=4.177	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:282,47:329:99:0|1:122724732_T_C:979,0,11632:122724732	0	0	7	3
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	4321.95	292	chr9	122724738	.	T	C	4321.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.576;DP=2474;ExcessHet=7.0302;FS=34.706;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.47;MQRankSum=-16.72;QD=1.99;ReadPosRankSum=-5.814;SOR=6.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,36:316:99:0|1:122724732_T_C:669,0,11608:122724732	3	0	7	0
chr9	128721783	128721783	C	T	exonic	ZDHHC12	.	nonsynonymous SNV	ZDHHC12:NM_001318015:exon4:c.G515A:p.R172H,ZDHHC12:NM_001318016:exon4:c.G350A:p.R117H,ZDHHC12:NM_001318020:exon4:c.G350A:p.R117H,ZDHHC12:NM_001318023:exon4:c.G347A:p.R116H,ZDHHC12:NM_032799:exon4:c.G350A:p.R117H	.	430	1090	2	0	0	2	0.00091659	.	.	.	2239316	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.00423443741375	0.0004	.	0.0004	9.756e-05	0.0003	0	0	0.0007	0.0011	0	0.0004075	63	154602	rs146354591	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0002	0.0011	0.0008	8.961e-05	0.0003	0.0038	5.038e-05	0	0.0019	0.0002	0.0004	0	0.0003	0.0003	0.0003	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	4.811e-05	0	0.0007	0.0029	0	0	0.0068	0.0002	0.0014	0	0.125	0.36509	T	0.141	0.41913	T	0.109	0.26142	B	0.015	0.17295	B	0.044823	0.23598	N	0.453294	0.790549	0.29231	N	1.52	0.38360	L	1.92	0.23082	T	-1.04	0.34198	N	0.246	0.33796	-1.0684	0.09768	T	0.040	0.17319	T	10	0.014626592	0.00307	T	0.004234	0.10216	T	0.053	0.14996	.	.	0.0762999501168	0.06990	0.42142061826271077	0.42058	0.22138815959	0.24677	0.475829809904	0.35483	T	0.005444	0.17609	T	-0.412673	0.01908	T	-0.50661	0.21663	T	0.0419776805748135	0.04050	T	0.931907	0.74605	D	0.09354279	0.21973	0.05158233	0.08329	0.09354279	0.21973	0.05158233	0.08328	-5.389	0.40813	T	.	.	0.087	0.17657	B	.;.;.;.	.;.;.;.	3.103176	0.41828	21.4	0.99937510461061574	0.99661	0.45492	0.27550	N	AEFDBCI	0.272692	0.38827	N	-0.153428428469622	0.35087	2.01107	-0.0275884260023746	0.38475	2.267224	0.99999996385771	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.78	3.74	0.42108	0.800000	0.26703	2.478000	0.32927	0.599000	0.40250	0.507000	0.27010	0.990000	0.31317	0.995000	0.73285	0.0:0.7029:0.0:0.2971	4.263	0.10201	0	0.99858	Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001362	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	647.43	38	chr9	128721783	.	C	T	647.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.458;DP=398;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.925;SOR=0.735	GT:AD:DP:GQ:PL	0/1:22,27:49:99:659,0,513	9	0	1	0
chr9	128999742	128999742	G	T	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon34:c.G3780T:p.E1260D	.	425	1062	31	4	0	39	0.0180305	.	.	.	1687699	not_provided|NUP188-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.054	.	0.0037	0.00459265	0.0053	0.0010	0.0041	0	0.0002	0.0053	0.0077	0.0136	0.0051487	796	154602	rs147959429	0.0057	0.0057	0.0054	0.0060	0.0146	0.0056	0.0055	0.0139	0.0137	0.0011	0.0049	0.0052	7.557e-05	0.0006	0.0132	0.0055	0.0068	0.0146	0.0043	0.0043	0.0042	0.0045	0.0126	0.0041	0.0039	0.0101	0.0092	0.0010	0.0011	0.0104	0.0049	0.0002	0.0005	0.0238	0.0051	0.0099	0.0126	0.1	0.30515	T	0.13	0.34716	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.049497	0.999938	0.51612	D	1.21	0.30464	L	1.3	0.35590	T	-1.39	0.34397	N	0.219	0.24510	-1.0873	0.05995	T	0.047	0.20037	T	10	0.0067179203	0.00152	T	.	.	.	0.054	0.15330	0.288	0.24761	0.138757226776	0.13463	0.1281385805638429	0.12738	0.165499226601	0.18665	0.433647572994	0.29707	T	0.023	0.17867	T	-0.515755	0.00466	T	-0.501947	0.22145	T	0.0127255447813224	0.00215	T	0.80032	0.44603	T	0.09218572	0.21620	0.08854248	0.20650	0.09218572	0.21620	0.08854248	0.20650	-3.944	0.22963	T	.	.	0.073	0.04599	B	.	.	1.942941	0.24678	16.49	0.99142352313699977	0.53573	0.78145	0.38511	D	AEFDGBCI	0.280364	0.39420	N	-0.334370868506915	0.27851	1.531367	-0.221038961486426	0.30783	1.736232	0.999996208120048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.28	2.32	0.27895	1.020000	0.29629	1.802000	0.28890	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.2262:0.0:0.6408:0.1329	6.476	0.21238	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	1	0	0	0	0	1	0	0.012588	0.015152	0.006793	0.005848	0.000000	0.034483	0.021341	0.018939	0.05	1529.43	34	chr9	128999742	.	G	T	1529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.092;DP=462;ExcessHet=0;FS=1.326;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-1.593;SOR=0.818	GT:AD:DP:GQ:PL	0/1:75,68:143:99:1541,0,1741	9	0	1	0
chr9	129619764	129619764	T	C	exonic	C9orf50	.	nonsynonymous SNV	C9orf50:NM_199350:exon2:c.A575G:p.N192S	.	424	1067	29	2	0	33	0.0152284	.	.	.	2826464	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0043	0.00239617	0.0031	0.0011	0.0041	0.0001	0	0.0041	0.0110	0.0020	0.0030595	473	154602	rs139758889	0.0036	0.0036	0.0037	0.0036	0.0106	0.0036	0.0035	0.0085	0.0077	0.0006	0.0042	0.0068	2.519e-05	0.0004	0.0106	0.0039	0.0043	0.0026	0.0031	0.0031	0.0034	0.0029	0.0060	0.0029	0.0028	0.0050	0.0047	0.0008	0	0.0060	0.0075	0	0.0003	0.0136	0.0044	0.0038	0.0025	0.921	0.02304	T	0.647	0.06812	T	0.01	0.15535	B	0.005	0.11217	B	0.391868	0.04482	N	1.419460	1	0.08975	N	-0.46	0.02758	N	2.61	0.13095	T	-1.03	0.27052	N	0.063	0.03502	-0.9702	0.37157	T	0.009	0.03096	T	10	0.0034188926	0.00060	T	.	.	.	0.019	0.03383	.	.	0.0138822411134	0.00435	0.011741665969622806	0.01134	0.529963951167	0.50551	.	.	.	9.3E-4	0.00486	T	-0.749097	0.00018	T	-0.844797	0.01029	T	0.000991300197597474	0.00010	T	0.505449	0.15971	T	0.030348785	0.02682	0.038332105	0.03678	0.030348785	0.02682	0.038332105	0.03678	-1.057	0.01064	T	.	.	0.079	0.07507	B	.	.	-0.024190	0.04119	0.976	0.59347015220903909	0.06203	0.01250	0.04399	N	AEFDBHCI	0.026021	0.01882	N	-1.58098593737585	0.01362	0.05936398	-1.65406289132508	0.01355	0.06118232	0.999999667143698	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	3.48	-6.22	0.01881	-1.405000	0.02598	-2.377000	0.03830	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.101000	0.18331	0.0:0.2666:0.1454:0.588	5.971	0.18590	607	0.67291	.	.	.	.	.	.	Likely benign	0	0	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	0.014099	0.005051	0.012228	0.002924	0.000000	0.025862	0.027439	0.018939	0.05	2361.43	44	chr9	129619764	.	T	C	2361.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.48;DP=575;ExcessHet=0;FS=0.489;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.211;SOR=0.643	GT:AD:DP:GQ:PL	0/1:121,103:224:99:2373,0,2939	9	0	1	0
chr9	135694417	135694417	G	T	exonic	SOHLH1	.	nonsynonymous SNV	SOHLH1:NM_001012415:exon7:c.C916A:p.L306M,SOHLH1:NM_001101677:exon7:c.C916A:p.L306M	.	418	1076	28	0	0	28	0.012844	.	.	.	700885	not_specified|not_provided|SOHLH1-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.205	.	0.0024	0.00439297	0.0040	0.0004	0.0018	0	0.0002	0.0033	0.0080	0.0142	0.0037968	587	154602	rs144035874	0.0040	0.0040	0.0036	0.0045	0.0143	0.0040	0.0039	0.0136	0.0133	0.0003	0.0025	0.0055	2.519e-05	0.0002	0.0078	0.0037	0.0043	0.0143	0.0028	0.0028	0.0027	0.0029	0.0133	0.0026	0.0025	0.0107	0.0097	0.0007	0	0.0026	0.0055	0.0002	9.416e-05	0.0034	0.0039	0.0033	0.0133	0.0	0.91255	D	0.02	0.59159	D	1.0	0.90584	D	0.974	0.77976	D	0.022308	0.26659	N	0.000000	0.963867	0.26006	N	1.905	0.50856	L	1.12	0.43672	T	-0.65	0.20791	N	0.299	0.45237	-1.0194	0.23910	T	0.115	0.40897	T	10	0.00800392	0.00182	T	.	.	.	0.205	0.49236	.	.	0.769224809604	0.76711	0.024377375038672506	0.02388	0.240467876749	0.26590	0.600934326649	0.53037	T	0.170494	0.51826	T	-0.439306	0.01305	T	-0.392132	0.34301	T	0.0480363027054846	0.05149	T	0.375462	0.10029	T	0.14672273	0.33574	0.12945314	0.31125	0.1755579	0.38421	0.12844017	0.30900	-6.666	0.51690	T	.	.	0.286	0.53293	B	.;.	.;.	1.888798	0.23993	16.23	0.99024227393760655	0.50655	0.24659	0.22462	N	AEFDBI	0.044883	0.07275	N	-0.149903679894684	0.35239	2.021542	-0.339853883871407	0.26825	1.484233	0.982373399511602	0.30390	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.08	3.17	0.35510	1.107000	0.30724	2.782000	0.34741	0.650000	0.52971	0.009000	0.18154	0.985000	0.30750	0.007000	0.07825	0.1145:0.0:0.8855:0.0	8.015	0.29539	673	0.60677	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005040	0.000000	0.005450	0.002924	0.000000	0.000000	0.003067	0.007576	0.05	839.43	107	chr9	135694417	.	G	T	839.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.286;DP=935;ExcessHet=0;FS=0.791;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=0.64;SOR=0.569	GT:AD:DP:GQ:PL	0/1:53,39:92:99:851,0,1220	9	0	1	0
chr9	136407874	136407874	C	G	exonic	ENTR1	.	nonsynonymous SNV	ENTR1:NM_001039708:exon2:c.G135C:p.K45N,ENTR1:NM_006643:exon3:c.G285C:p.K95N,ENTR1:NM_001039707:exon4:c.G354C:p.K118N	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0247617259153	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1238737535	5.474e-06	5.472e-06	5.446e-06	5.503e-06	7.197e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.197e-06	0	0	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	0.002	0.72154	D	0.015	0.92824	D	1.0	0.90584	D	0.973	0.72923	D	0.000004	0.62929	D	0.102092	0.999418	0.46970	D	.	.	.	1.92	0.40469	T	-1.44	0.73893	N	0.637	0.64989	-0.6079	0.64491	T	0.247	0.61647	T	10	0.31194595	0.48659	T	0.024762	0.47746	T	0.177	0.44549	0.467	0.53891	0.456368778954	0.45261	0.26924859424591646	0.26837	0.134625741518	0.15165	0.574035763741	0.49247	T	0.093106	0.60306	T	-0.161786	0.26486	T	-0.470171	0.25497	T	0.9530109167099	0.63928	D	0.877312	0.59062	D	0.4518074	0.64155	0.34925577	0.60553	0.4518074	0.64156	0.34925577	0.60553	-4.76	0.38522	T	.	.	0.743	0.79235	P	.;.;.;.	.;.;.;.	3.645506	0.51706	23.1	0.99831882302454122	0.91370	0.92390	0.55601	D	AEFGBI	0.289580	0.40119	N	0.562690822164129	0.70858	5.563735	0.511204812711106	0.68741	5.262357	0.999999999988202	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	1.329000	0.33375	1.048000	0.23614	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.635000	0.32288	0.0:1.0:0.0:0.0	16.530	0.84204	911	0.21964	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1711.14	35	chr9	136407874	.	C	G	1711.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.17;DP=424;ExcessHet=0.2348;FS=5.377;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=1.16;SOR=1.174	GT:AD:DP:GQ:PL	0/1:37,29:66:99:711,0,835	8	0	2	0
chr9	136994689	136994689	G	A	exonic	CLIC3	.	nonsynonymous SNV	CLIC3:NM_004669:exon6:c.C703T:p.P235S	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0003	0.00798722	0.0035	0.0001	0.0003	0.0408	0.0003	5.853e-05	0.0030	0.0011	0.0026584	411	154602	rs138947887	0.0008	0.0008	0.0008	0.0008	0.0205	0.0008	0.0008	0.0193	0.0188	5.996e-05	0.0001	0	0.0205	9.648e-05	0.0006	9.999e-05	0.0029	0.0014	0.0012	0.0012	0.0011	0.0012	0.0283	0.0010	0.0010	0.0246	0.0232	9.618e-05	0	0.0002	0	0.0283	0	0	0.0002	0.0014	0.0025	0.01	0.56456	D	0.031	0.53788	D	0.58	0.38813	P	0.14	0.33554	B	0.025072	0.26152	N	0.396328	0.925571	0.36809	D	1.845	0.48678	L	1.81	0.25182	T	-0.58	0.17417	N	0.283	0.32037	-1.0814	0.07079	T	0.028	0.11971	T	10	0.0040216744	0.00078	T	.	.	.	0.043	0.11576	.	.	0.53787198782	0.53439	0.4405914681335646	0.43976	1.08037687024	0.77121	0.41788816452	0.27546	T	0.005232	0.04677	T	-0.537909	0.00345	T	-0.518285	0.20469	T	0.0192769943592699	0.00633	T	0.534647	0.17878	T	0.06779757	0.14714	0.053729076	0.09108	0.06779757	0.14713	0.053729076	0.09107	-3.841	0.21418	T	.	.	0.077	0.06525	B	.	.	3.290967	0.45137	22.1	0.99225387713268465	0.56026	0.61976	0.31643	D	AEFDGBHCI	0.201029	0.32772	N	-0.19398850174953	0.33384	1.89338	-0.245906466851072	0.29913	1.67978	0.999994586235587	0.74766	0.646311	0.45356	0	0.550933	0.16991	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	3.29	1.26	0.20534	2.387000	0.44043	4.358000	0.43109	0.526000	0.24426	0.996000	0.39380	1.000000	0.68203	0.431000	0.27472	0.0935:0.3102:0.5962:0.0	7.954	0.29191	976	0.04745	Glutathione S-transferase, C-terminal-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.000000	0.05	1012.43	34	chr9	136994689	.	G	A	1012.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.415;DP=380;ExcessHet=0;FS=3.88;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.33;ReadPosRankSum=1.24;SOR=0.32	GT:AD:DP:GQ:PL	0/1:20,42:62:99:1024,0,409	9	0	1	0
chr9	137186288	137186288	C	T	exonic	ANAPC2	.	nonsynonymous SNV	ANAPC2:NM_013366:exon3:c.G809A:p.R270Q	.	418	1100	3	1	0	5	0.00226757	.	.	.	3979901	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.00453105633492	0.0002	.	0.0002	0	0	0	0	0.0001	0	0.0005	0.00011	17	154602	rs146337536	7.808e-05	7.798e-05	5.997e-05	9.638e-05	0.0006	6.608e-05	6.15e-05	0.0004	0.0004	2.988e-05	4.474e-05	0	0	0	0.0006	4.946e-05	9.949e-05	0.0005	1.314e-05	1.313e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.496	0.07846	T	0.362	0.16865	T	0.019	0.17989	B	0.002	0.06944	B	0.000068	0.52346	D	0.162027	0.680927	0.30279	N	-0.69	0.01958	N	3.97	0.03326	T	0.64	0.02368	N	0.265	0.30004	-0.9869	0.33371	T	0.005	0.01688	T	10	0.058430403	0.06869	T	0.004531	0.11157	T	0.079	0.23065	.	.	0.31316556289	0.30919	0.1767428270055384	0.17593	0.718418956035	0.62092	0.51226747036	0.40539	T	0.304795	0.67708	T	-0.447107	0.01174	T	-0.558049	0.16560	T	0.0469700216820017	0.04960	T	0.858914	0.54988	D	0.056080732	0.10984	0.038814608	0.03834	0.056080732	0.10984	0.038814608	0.03833	-4.486	0.30705	T	0.14703866300673302	0.17009	0.070	0.03588	B	.	.	3.213577	0.43755	21.8	0.99213936142850967	0.55685	0.66699	0.33169	D	AEFGBI	0.166074	0.29262	N	-0.362109425029085	0.26829	1.467296	-0.174528761137932	0.32477	1.848036	0.999998731590434	0.74766	0.706548	0.73137	0	0.581341	0.33841	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.71	2.8	0.31881	3.067000	0.49706	2.127000	0.30755	0.599000	0.40250	1.000000	0.71638	0.535000	0.25384	0.984000	0.60418	0.0:0.7608:0.0:0.2392	5.070	0.13940	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	0.001008	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	3556.14	34	chr9	137186288	.	C	T	3556.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.37;DP=609;ExcessHet=0.2348;FS=1.324;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=1.41;SOR=0.776	GT:AD:DP:GQ:PL	0/1:70,83:153:99:1931,0,1555	8	0	2	0
chr9	137279666	137279666	T	G	exonic	TOR4A	.	nonsynonymous SNV	TOR4A:NM_017723:exon2:c.T977G:p.F326C	.	437	1080	5	0	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	.	0.0211661	0.0082	0.0226	0.0371	0.0392	0	0.0003	0.0065	0.0047	0.0045795	708	154602	rs28516757	0.0025	0.0025	0.0025	0.0024	0.0338	0.0024	0.0024	0.0322	0.0316	0.0170	0.0191	0.0006	0.0338	2.757e-05	0.0025	0.0002	0.0054	0.0039	0.0083	0.0083	0.0084	0.0082	0.0402	0.0079	0.0078	0.0357	0.0340	0.0172	0	0.0176	0.0003	0.0402	0	0.0068	0.0004	0.0099	0.0037	0.176	0.22312	T	0.126	0.35205	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.59	0.53943	T	-0.11	0.08653	N	0.11	0.09631	-1.0837	0.06646	T	0.011	0.04274	T	9	0.0024200678	0.00036	T	.	.	.	0.034	0.08419	.	.	0.0297737177859	0.01360	0.7652302752446954	0.76472	1.6293561875	0.89194	0.755126357079	0.75204	T	0.034567	0.23374	T	-0.620432	0.00109	T	-0.638222	0.09799	T	0.000142043531616991	0.00001	T	0.147885	0.01227	T	0.03345066	0.03567	0.033385046	0.02224	0.03345066	0.03567	0.033385046	0.02223	-4.361	0.29023	T	.	.	0.137	0.29860	B	.	.	0.370028	0.07422	4.054	0.50929529625452752	0.04471	0.07231	0.13255	N	AEFGBCI	0.040331	0.05986	N	-1.54006810942247	0.01593	0.06962702	-1.58010280436456	0.01777	0.08087423	0.999973011656619	0.50053	0.631515	0.41029	0	0.697927	0.68747	0	0.654045	0.52621	0	0.662433	0.64102	0	.	.	4.23	-3.02	0.05116	-0.336000	0.07908	0.000000	0.13247	-2.361000	0.00305	0.000000	0.06391	0.044000	0.21668	0.000000	0.00833	0.1042:0.4793:0.1288:0.2877	2.737	0.04921	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002041	0.000000	0.002740	0.002959	0.000000	0.008772	0.003067	0.003788	0.05	2428.43	43	chr9	137279666	.	T	G	2428.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=557;ExcessHet=0;FS=3.287;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.505;SOR=0.494	GT:AD:DP:GQ:PL	0/1:98,97:195:99:2440,0,2461	9	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	.	.	.	.	.	.	.	.	0.35	1822.95	95	chr10	825249	.	T	C	1822.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.251;DP=1130;ExcessHet=7.0302;FS=212.087;InbreedingCoeff=-0.5384;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=1.58;SOR=11.374	GT:AD:DP:GQ:PL	0/1:84,47:131:99:310,0,1181	3	0	7	0
chr10	3119938	3119938	A	G	exonic	PFKP	.	nonsynonymous SNV	PFKP:NM_001323074:exon11:c.A929G:p.E310G,PFKP:NM_001323073:exon12:c.A929G:p.E310G,PFKP:NM_001323067:exon16:c.A1496G:p.E499G,PFKP:NM_001323069:exon16:c.A1070G:p.E357G,PFKP:NM_001345944:exon16:c.A1463G:p.E488G,PFKP:NM_002627:exon16:c.A1577G:p.E526G,PFKP:NM_001323071:exon17:c.A1463G:p.E488G,PFKP:NM_001323072:exon17:c.A1463G:p.E488G,PFKP:NM_001242339:exon18:c.A1553G:p.E518G	.	428	1090	4	0	0	4	0.0018315	.	.	.	701318	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.333	0.0322009805631	0.0058	0.00259585	0.0053	0.0012	0.0008	0	0.0036	0.0079	0.0022	0.0043	0.0052845	817	154602	rs41288721	0.0071	0.0071	0.0070	0.0071	0.0083	0.0070	0.0069	0.0082	0.0081	0.0009	0.0014	0.0039	0	0.0035	0.0012	0.0083	0.0062	0.0037	0.0048	0.0048	0.0050	0.0045	0.0076	0.0045	0.0044	0.0071	0.0068	0.0011	0.0428	0.0035	0.0049	0	0.0032	0	0.0076	0.0033	0.0033	0.009	0.65419	D	0.04	0.50809	D	0.003	0.11197	B	0.02	0.19048	B	0.004544	0.33627	N	0.340065	0.811297	0.34645	D	1.95	0.52479	M	-1.15	0.77964	T	-3.69	0.70432	D	0.397	0.44187	-0.6577	0.62377	T	0.242	0.61083	T	10	0.008535087	0.00193	T	0.032201	0.54088	D	0.333	0.65522	.	.	0.672392681923	0.66962	0.7627020923406801	0.76218	0.269737973459	0.29498	0.287244170904	0.08522	T	0.697751	0.91269	D	-0.308868	0.07848	T	-0.211317	0.53569	T	0.0274130518947856	0.01603	T	0.954805	0.82790	D	0.56875163	0.70992	0.39064917	0.63855	0.56875163	0.70993	0.39064917	0.63855	-8.673	0.68453	D	.	.	0.088	0.17402	B	.;.	.;.	3.846597	0.55700	23.6	0.99809054772278494	0.89353	0.86471	0.45758	D	AEFBCI	0.453575	0.50665	N	-0.140759923701473	0.35630	2.048945	0.0306633717489943	0.41145	2.467178	0.999449958782421	0.39736	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.7	4.54	0.55220	3.766000	0.54991	5.888000	0.50725	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8661:0.1339:0.0:0.0	13.103	0.58646	982	0.03397	Phosphofructokinase 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	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1077.43	51	chr10	3119938	.	A	G	1077.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.119;DP=472;ExcessHet=0;FS=0.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-1.303;SOR=0.621	GT:AD:DP:GQ:PL	0/1:65,52:117:99:1089,0,1557	9	0	1	0
chr10	11870207	11870207	C	T	exonic	PROSER2	.	nonsynonymous SNV	PROSER2:NM_153256:exon4:c.C1109T:p.P370L	.	408	1111	3	0	0	3	0.00134831	.	.	.	3588170	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.160	0.0953673294743	.	.	0.0001	0	0	0	.	0	0	0.0002	1.29e-05	2	154602	rs772055425	1.718e-05	2.189e-05	1.179e-05	2.272e-05	0.0002	1.144e-05	9.56e-06	4.352e-05	3.074e-05	0	0	0	0	0	0.0002	1.321e-05	1.801e-05	9.291e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.005	0.74150	D	0.997	0.70673	D	0.884	0.62758	P	0.000379	0.45194	D	0.098161	0.999232	0.22978	N	1.965	0.53209	M	0.03	0.62183	T	-5.47	0.86914	D	0.432	0.62611	-0.6078	0.64495	T	0.328	0.69589	T	10	0.32850927	0.50118	T	0.095367	0.76416	D	0.160	0.41473	0.271	0.22052	0.495640347216	0.49198	0.2642938035880871	0.26342	1.01917520793	0.75045	0.569499731064	0.48607	T	0.222645	0.62037	T	-0.0199108	0.48867	T	-0.266377	0.48185	T	0.92353492975235	0.58423	D	0.631037	0.24617	T	0.3220779	0.54815	0.29057714	0.55081	0.3220779	0.54815	0.29057714	0.55080	-6.014	0.46397	T	.	.	0.186	0.42906	B	.;.;.	.;.;.	3.574334	0.50354	22.9	0.99754510101642901	0.84537	0.81114	0.40587	D	AEFDBCIJ	0.440126	0.49882	N	0.257954547566708	0.54034	3.57002	0.163276688899704	0.47849	3.009102	0.999999945075553	0.74766	0.685219	0.55550	0	0.578056	0.33634	0	0.674405	0.61402	0	0.635551	0.53088	0	.	.	5.07	5.07	0.68106	4.314000	0.58957	4.733000	0.44564	0.462000	0.21616	0.978000	0.35038	0.997000	0.33255	0.015000	0.10482	0.0:1.0:0.0:0.0	15.589	0.76254	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	363.43	39	chr10	11870207	.	C	T	363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.093;DP=308;ExcessHet=0;FS=5.188;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.553;SOR=0.976	GT:AD:DP:GQ:PL	0/1:16,18:34:99:375,0,324	9	0	1	0
chr10	16915037	16915037	A	G	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon47:c.T7346C:p.M2449T	Megaloblastic anemia-1, Finnish type, Autosomal recessive	1	1500	21	0	0	21	0.00695134	.	.	.	459738	Imerslund-Grasbeck_syndrome|not_provided|Imerslund-Grasbeck_syndrome_type_1|CUBN-related_disorder	MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858|MedGen:C3661900|MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0024	0.00339457	0.0044	0.0005	0.0010	0.0001	0.0002	0.0029	0.01	0.0190	0.0040556	627	154602	rs41301097	0.0033	0.0033	0.0028	0.0038	0.0181	0.0032	0.0032	0.0173	0.0170	0.0005	0.0011	0.0049	2.519e-05	0.0004	0.0084	0.0025	0.0036	0.0181	0.0021	0.0021	0.0021	0.0021	0.0155	0.0019	0.0018	0.0127	0.0117	0.0004	0	0.0004	0.0052	0	0.0002	0	0.0029	0.0019	0.0155	0.581	0.05973	T	0.55	0.09425	T	0.0	0.02946	B	0.001	0.04355	B	0.005953	0.01103	N	2.812850	1	0.08975	N	-0.73	0.01772	N	-0.86	0.74477	T	-0.01	0.07155	N	0.064	0.03613	-0.9600	0.39181	T	0.138	0.45526	T	10	0.0033961833	0.00059	T	.	.	.	0.058	0.16647	.	.	0.467416895013	0.46368	0.3127677485016908	0.31189	0.0900815735264	0.10158	0.21158324182	0.00880	T	0.034805	0.23469	T	-0.626878	0.00100	T	-0.658964	0.08337	T	0.00170003410307051	0.00017	T	0.150085	0.01260	T	0.039272573	0.05391	0.080931626	0.18350	0.039272573	0.05391	0.080931626	0.18349	-2.423	0.05276	T	0.06617062895478984	0.02237	0.064	0.01738	B	.	.	-0.028267	0.04090	0.960	0.17691399163817484	0.00526	0.08649	0.14548	N	AEFGI	0.083061	0.16824	N	-1.22731178148344	0.04608	0.2082969	-1.20217761194516	0.05875	0.2811844	0.677622759163957	0.22443	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.794256	0.99912	0	.	.	5.1	-1.28	0.08834	1.385000	0.34014	0.533000	0.19265	0.684000	0.82519	0.001000	0.13787	0.000000	0.08366	0.065000	0.16320	0.2886:0.3393:0.3721:0.0	4.945	0.13336	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2	3081.55	34	chr10	16915037	.	A	G	3081.55	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.978;DP=448;ExcessHet=0.0405;FS=1.133;InbreedingCoeff=0.375;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=0.406;SOR=0.816	GT:AD:DP:GQ:PL	0/1:38,31:69:99:622,0,925	7	1	2	0
chr10	23192916	23192916	C	T	exonic	PTF1A	.	nonsynonymous SNV	PTF1A:NM_178161:exon1:c.C386T:p.A129V	Pancreatic agenesis 2, Autosomal recessive;Pancreatic and cerebellar agenesis, Autosomal recessive	13	1498	11	0	0	11	0.00365813	.	.	.	321107	not_provided|Pancreatic_agenesis_2|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome	MedGen:C3661900|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.120	.	.	0.014377	0.0524	0.0278	0	0.0286	.	0	0	0.0690	0.0018628	288	154602	rs370163562	0.0018	0.0021	0.0016	0.0020	0.0372	0.0017	0.0017	0.0354	0.0346	0.0002	8.814e-05	0	0.0296	0	0.0017	2.057e-05	0.0045	0.0372	0.0025	0.0025	0.0018	0.0033	0.0358	0.0023	0.0022	0.0315	0.0299	0.0004	0	0.0005	0	0.0358	0	0	5.937e-05	0.0024	0.0342	0.081	0.33418	T	0.143	0.33219	T	0.014	0.16867	B	0.002	0.06944	B	0.126536	0.18801	N	0.484293	0.999775	0.20412	N	1.1	0.28011	L	-3.54	0.94799	D	-0.88	0.23808	N	0.025	0.00485	-0.3479	0.73614	T	0.572	0.84531	D	10	0.0019993186	0.00028	T	.	.	.	0.120	0.33359	0.214	0.13354	.	.	0.4008269588821423	0.39997	.	.	0.893904864788	0.95737	D	0.14903	0.48785	T	-0.462019	0.00955	T	-0.403578	0.32968	T	0.0166266792733299	0.00422	T	0.430857	0.11714	T	0.032322325	0.03236	0.07671529	0.17018	0.035626147	0.04230	0.089067295	0.20807	-5.821	0.44757	T	0.10791138581265387	0.08837	0.127	0.26947	B	.	.	0.884420	0.12578	9.105	0.97937146522805196	0.36999	0.56661	0.30174	D	AEFDBHCI	0.083560	0.16929	N	-1.04743144514526	0.07638	0.3554936	-1.08253268650605	0.08044	0.3938225	0.999998340303109	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	2.71	1.79	0.23992	0.532000	0.22776	0.064000	0.14171	-0.358000	0.05522	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.208:0.6742:0.0:0.1177	4.883	0.13047	833	0.38804	.	.	.	.	.	.	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	0.002762	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	199.43	15	chr10	23192916	.	C	T	199.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=242;ExcessHet=0;FS=1.76;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=-0.42;SOR=1.112	GT:AD:DP:GQ:PL	0/1:15,8:23:99:211,0,386	9	0	1	0
chr10	27186516	27186516	G	A	exonic	MASTL	.	nonsynonymous SNV	MASTL:NM_001172304:exon11:c.G2503A:p.V835I,MASTL:NM_001172303:exon12:c.G2620A:p.V874I,MASTL:NM_032844:exon12:c.G2617A:p.V873I,MASTL:NM_001320756:exon13:c.G2632A:p.V878I,MASTL:NM_001320757:exon13:c.G2635A:p.V879I,MASTL:NM_001372030:exon13:c.G2137A:p.V713I,MASTL:NM_001372029:exon14:c.G2152A:p.V718I	.	0	1473	47	2	0	51	0.017017	.	.	.	712315	Thrombocytopenia_2|Thrombocytopenia|not_provided	MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.078	0.00997056963759	0.0037	0.00139776	0.0044	0.0013	0.0016	0.0001	0.0002	0.0055	0.0077	0.0075	0.0040491	626	154602	rs138288481	0.0048	0.0048	0.0048	0.0049	0.0072	0.0047	0.0047	0.0067	0.0065	0.0012	0.0019	0.0121	2.52e-05	0.0002	0.0061	0.0050	0.0058	0.0072	0.0036	0.0036	0.0036	0.0035	0.0077	0.0033	0.0032	0.0057	0.0050	0.0011	0.0022	0.0033	0.0136	0	0.0004	0.0102	0.0051	0.0028	0.0077	0.203	0.20154	T	0.171	0.30339	T	0.011	0.20130	B	0.016	0.20792	B	0.000006	0.62929	N	0.106801	0.996275	0.45878	D	1.53	0.38800	L	-0.28	0.67543	T	-0.34	0.13805	N	0.061	0.08366	-0.9986	0.30311	T	0.126	0.43112	T	10	0.0049705505	0.00107	T	0.009971	0.25946	T	0.078	0.22779	.	.	0.371531589858	0.36766	0.1272268554561651	0.12648	0.0910169347132	0.10278	0.316755950451	0.12930	T	0.006687	0.06116	T	-0.498078	0.00586	T	-0.483104	0.24118	T	0.00412092111472847	0.00044	T	0.812919	0.48860	T	0.019913116	0.00533	0.0360601	0.02977	0.019913116	0.00532	0.0360601	0.02977	-5.82	0.52231	T	.	.	0.073	0.07697	B	.;.;.;.	.;.;.;.	1.094405	0.14780	11.32	0.95402752632936616	0.26857	0.91252	0.53159	D	AEFBI	0.103222	0.20687	N	-0.449366988897339	0.23761	1.278292	-0.341345716934986	0.26776	1.481296	0.146633193900005	0.17370	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.63	2.79	0.31792	2.239000	0.42728	0.193000	0.15765	0.656000	0.54149	0.995000	0.38783	0.001000	0.17328	0.935000	0.47363	0.2174:0.0:0.7826:0.0	10.103	0.41688	804	0.43891	.;AGC-kinase, C-terminal;.;AGC-kinase, 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	0	0	1	0	0.007553	0.000000	0.009511	0.005848	0.000000	0.008621	0.006098	0.011364	0.05	1367.43	36	chr10	27186516	.	G	A	1367.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=578;ExcessHet=0;FS=3.446;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.803;SOR=0.427	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1379,0,1272	9	0	1	0
chr10	32271912	32271912	A	G	exonic	EPC1	.	nonsynonymous SNV	EPC1:NM_001272004:exon13:c.T2011C:p.Y671H,EPC1:NM_001272019:exon13:c.T1798C:p.Y600H,EPC1:NM_001282391:exon13:c.T1861C:p.Y621H,EPC1:NM_001382753:exon13:c.T2008C:p.Y670H,EPC1:NM_001382755:exon13:c.T1810C:p.Y604H,EPC1:NM_001382754:exon14:c.T1930C:p.Y644H,EPC1:NM_025209:exon14:c.T2080C:p.Y694H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0164418631709	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1223670651	5.477e-06	5.472e-06	0	1.101e-05	0.0002	2.36e-06	1.7e-06	3.767e-05	2.663e-05	0	0	0	0	0	0.0002	0	0	8.119e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.32929	T	0.32	0.20745	T	0.969	0.77913	D	0.655	0.88582	P	0.000233	0.47286	D	0.226121	0.999997	0.58761	D	1.895	0.50365	L	.	.	.	-0.67	0.19297	N	0.49	0.56058	-0.6363	0.63303	T	0.303	0.67362	T	9	0.54528385	0.63948	D	0.016442	0.37697	T	0.290	0.60924	0.834	0.94231	0.400930682813	0.39710	0.6251952422838621	0.62452	0.88529838353	0.69962	0.832993626595	0.87022	D	0.176426	0.52636	T	0.166191	0.70774	D	0.101576	0.77012	D	0.689945241526325	0.40245	D	0.967203	0.93912	D	0.08625338	0.20042	0.09485253	0.22470	0.08625338	0.20042	0.09485253	0.22469	-2.546	0.06734	T	.	.	0.412	0.60259	A	.;.;.	.;.;.	4.567779	0.72040	25.8	0.99762819315161644	0.85172	0.99557	0.97415	D	AEFDGBI	0.883928	0.81321	D	0.564097400482829	0.70946	5.576626	0.597696696081067	0.74773	6.19465	0.999999999999988	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.741806	0.99463	0	.	.	5.37	5.37	0.76949	8.944000	0.92539	11.314000	0.92500	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.431	0.74824	535	0.73288	.;.;Enhancer of polycomb, 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	.	.	.	.	.	.	.	.	0.05	1053.43	34	chr10	32271912	.	A	G	1053.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-1.239;SOR=0.77	GT:AD:DP:GQ:PL	0/1:34,39:73:99:1065,0,821	9	0	1	0
chr10	46550184	46550184	A	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.T553A:p.S185T,GPRIN2:NM_001385276:exon3:c.T553A:p.S185T,GPRIN2:NM_001385282:exon3:c.T553A:p.S185T,GPRIN2:NM_014696:exon3:c.T553A:p.S185T,GPRIN2:NM_001385277:exon4:c.T553A:p.S185T,GPRIN2:NM_001385278:exon4:c.T553A:p.S185T,GPRIN2:NM_001385279:exon4:c.T553A:p.S185T,GPRIN2:NM_001385280:exon4:c.T553A:p.S185T,GPRIN2:NM_001385281:exon4:c.T553A:p.S185T,GPRIN2:NM_001385283:exon4:c.T553A:p.S185T,GPRIN2:NM_001385287:exon4:c.T625A:p.S209T,GPRIN2:NM_001385289:exon4:c.T625A:p.S209T,GPRIN2:NM_001385300:exon4:c.T625A:p.S209T,GPRIN2:NM_001385291:exon5:c.T625A:p.S209T,GPRIN2:NM_001385293:exon5:c.T625A:p.S209T,GPRIN2:NM_001385294:exon5:c.T625A:p.S209T,GPRIN2:NM_001385295:exon5:c.T625A:p.S209T,GPRIN2:NM_001385296:exon5:c.T625A:p.S209T,GPRIN2:NM_001385301:exon5:c.T625A:p.S209T,GPRIN2:NM_001385297:exon6:c.T625A:p.S209T,GPRIN2:NM_001385298:exon6:c.T625A:p.S209T,GPRIN2:NM_001385299:exon6:c.T625A:p.S209T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.29	0.21011	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.59	0.04544	T	-1.42	0.34992	N	0.275	0.31140	.	.	.	.	.	.	.	0.18407309	0.33764	T	.	.	.	.	.	.	.	.	.	0.3994486711268477	0.39859	.	.	.	.	.	0.018508	0.14910	T	.	.	.	.	.	.	.	.	.	0.492951	0.15215	T	.	.	.	.	.	.	.	.	-3.761	0.20223	T	.	.	0.094	0.14385	B	.;.	.;.	3.217380	0.43821	21.8	.	.	.	.	.	.	0.115873	0.22764	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.333000	0.33421	1.882000	0.29459	0.756000	0.94297	0.883000	0.31049	0.836000	0.27257	0.612000	0.31691	.	.	.	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	834.43	126	chr10	46550184	.	A	T	834.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.632;DP=1287;ExcessHet=0;FS=3.217;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.35;ReadPosRankSum=1.25;SOR=1.013	GT:AD:DP:GQ:PL	0/1:112,44:156:99:846,0,2956	9	0	1	0
chr10	47502957	47502957	G	A	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.C1172T:p.P391L	.	440	1073	8	1	0	10	0.00463822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.747455093348	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181170818	0.0006	0.0006	0.0006	0.0006	0.0035	0.0006	0.0006	0.0023	0.0019	0.0002	9.179e-05	3.858e-05	2.553e-05	3.767e-05	0.0035	0.0007	0.0004	0.0009	0.0004	0.0004	0.0005	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0003	0	0.0003	0	0	0.0003	0	0.0007	0	0.0002	0.205	0.20002	T	0.107	0.37730	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.68	0.12371	T	-5.11	0.83092	D	0.221	0.24758	.	.	.	.	.	.	.	0.17645505	0.32630	T	.	.	.	.	.	.	.	.	.	0.03470515512891299	0.03417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.754325	0.37688	T	.	.	.	.	.	.	.	.	-3.704	0.19377	T	.	.	0.076	0.05890	B	.	.	2.631763	0.34221	19.57	.	.	.	.	.	.	0.173174	0.30025	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.293000	0.43219	-0.011000	0.13060	0.164000	0.17730	0.995000	0.38783	0.012000	0.20211	0.029000	0.12982	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	4770.45	34	chr10	47502957	.	G	A	4770.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.72;DP=792;ExcessHet=0.7463;FS=1.303;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=46.62;MQRankSum=-3.829;QD=13.99;ReadPosRankSum=0.261;SOR=0.779	GT:AD:DP:GQ:PL	0/1:46,64:110:99:1812,0,1085	7	0	3	0
chr10	47503089	47503098	AGGGATGGCC	-	exonic	AGAP9	.	stopgain	AGAP9:NM_001190810:exon8:c.1031_1040del:p.W344*	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190393193	2.6e-05	2.599e-05	1.634e-05	3.575e-05	0.0004	1.933e-05	1.692e-05	7.999e-05	6.237e-05	0	0	3.826e-05	0	0	0.0004	1.888e-05	3.312e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	4706.1	34	chr10	47503088	.	TAGGGATGGCC	T	4706.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.38;DP=1144;ExcessHet=0.2348;FS=0.593;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=45.39;MQRankSum=1.45;QD=8.88;ReadPosRankSum=-1.471;SOR=0.76	GT:AD:DP:GQ:PL	0/1:183,80:263:99:2781,0,7353	8	0	2	0
chr10	49532621	49532621	T	C	exonic	ERCC6	.	nonsynonymous SNV	ERCC6:NM_000124:exon2:c.A344G:p.N115S,ERCC6:NM_001277058:exon2:c.A344G:p.N115S,ERCC6:NM_001277059:exon2:c.A344G:p.N115S,ERCC6:NM_001346440:exon2:c.A344G:p.N115S	Cerebrooculofacioskeletal syndrome 1, Autosomal recessive;Cockayne syndrome, type B, Autosomal recessive;De Sanctis-Cacchione syndrome, Autosomal recessive;Premature ovarian failure 11, Autosomal dominant;UV-sensitive syndrome 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	2114811	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.018	0.0262246162131	0.0002	.	0.0001	0.0009	0.0003	0	0.0002	0	0	0	8.41e-05	13	154602	rs142097249	5.746e-05	5.746e-05	7.487e-05	3.988e-05	0.0009	4.743e-05	4.366e-05	0.0007	0.0006	0.0007	0.0009	0	0	0	0	7.194e-06	9.934e-05	6.956e-05	0.0005	0.0005	0.0004	0.0007	0.0033	0.0004	0.0004	0.0026	0.0023	0.0007	0	0.0033	0	0.0002	0	0	1.47e-05	0.0005	0	0.954	0.02989	T	0.864	0.09022	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.505	0.00499	N	-1.59	0.82076	D	-0.46	0.29525	N	0.016	0.01135	-0.8977	0.48224	T	0.158	0.49161	T	9	0.007536024	0.00171	T	0.026225	0.49152	D	0.018	0.03083	.	.	0.230578612272	0.22657	0.03784740223068174	0.03730	0.0800052449787	0.18510	0.213316202164	0.00960	T	0.071721	0.34278	T	-0.487375	0.00672	T	-0.523297	0.19962	T	0.00172920992722737	0.00018	T	0.521048	0.28627	T	0.09858789	0.23256	0.057887692	0.10604	0.09858789	0.23256	0.057887692	0.10603	-2.193	0.04007	T	.	.	0.055	0.19357	B	.;.;.;.	.;.;.;.	-0.205349	0.03064	0.476	0.33849741560844432	0.02039	0.07797	0.13794	N	AEFDBI	0.049388	0.08528	N	-1.32180955523762	0.03426	0.1530366	-1.26524329773795	0.04909	0.2326876	0.999969671455905	0.48965	0.722319	0.85440	0	0.723133	0.82719	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	5.8	-2.44	0.06126	0.376000	0.20265	0.346000	0.17429	-0.692000	0.04118	0.007000	0.17678	0.014000	0.20376	0.213000	0.22268	0.1273:0.179:0.1273:0.5664	2.521	0.04395	702	0.57624	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2033.43	67	chr10	49532621	.	T	C	2033.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.474;DP=601;ExcessHet=0;FS=1.144;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=1.14;SOR=0.608	GT:AD:DP:GQ:PL	0/1:102,87:189:99:2045,0,2541	9	0	1	0
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	.	.	.	.	.	.	.	.	0.2222	564.7	40	chr10	50104144	.	G	A	564.7	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.768;DP=636;ExcessHet=1.5895;FS=154.041;InbreedingCoeff=-0.3296;MLEAC=4;MLEAF=0.222;MQ=55.49;MQRankSum=0.493;QD=2.05;ReadPosRankSum=1.02;SOR=9.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,16:74:99:0|1:50104141_G_C:179,0,2073:50104141	5	0	4	1
chr10	53840371	53840371	T	C	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001142765:exon27:c.A3719G:p.Y1240C,PCDH15:NM_001142767:exon28:c.A3821G:p.Y1274C,PCDH15:NM_001142768:exon28:c.A3866G:p.Y1289C,PCDH15:NM_001142773:exon28:c.A3866G:p.Y1289C,PCDH15:NM_001142764:exon29:c.A3932G:p.Y1311C,PCDH15:NM_001142766:exon29:c.A3932G:p.Y1311C,PCDH15:NM_001354420:exon29:c.A3932G:p.Y1311C,PCDH15:NM_001354429:exon29:c.A3932G:p.Y1311C,PCDH15:NM_001384140:exon29:c.A3932G:p.Y1311C,PCDH15:NM_033056:exon29:c.A3932G:p.Y1311C,PCDH15:NM_001142763:exon30:c.A3947G:p.Y1316C,PCDH15:NM_001354411:exon30:c.A3953G:p.Y1318C,PCDH15:NM_001354404:exon31:c.A3866G:p.Y1289C	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	956095	not_provided|Usher_syndrome_type_1F	MedGen:C3661900|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.808	0.161201794413	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs752031456	4.788e-06	4.788e-06	6.806e-06	2.75e-06	0.0003	1.99e-06	1.28e-06	6.092e-05	2.521e-05	0	0	0	0	1.872e-05	0.0003	3.597e-06	0	0	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	1.79	0.46772	L	-0.3	0.71543	T	-7.37	0.94674	D	0.955	0.99481	-0.1249	0.79520	T	0.425	0.76903	T	9	0.93161166	0.92498	D	0.161202	0.84104	D	0.808	0.93777	0.798	0.91802	0.856911317716	0.85552	0.8494526688581524	0.84907	0.239585080843	0.26507	0.821821272373	0.85308	D	0.236722	0.89039	T	0.339158	0.85779	D	0.264886	0.86322	D	0.996407687664032	0.89278	D	0.99971	0.99924	D	0.66499126	0.76165	0.5448127	0.73689	0.66499126	0.76167	0.5448127	0.73689	-12.342	0.86477	D	0.7710656895020218	0.85203	0.916	0.89285	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.037740	0.83830	28.1	0.99842122871046912	0.92229	0.97918	0.78116	D	AEFI	0.969418	0.99181	D	0.678359723495611	0.78214	6.826747	0.697662484879044	0.82202	7.708832	0.998970645978676	0.38110	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.43	5.43	0.79006	7.902000	0.86082	7.912000	0.74078	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.428	0.74798	963	0.08280	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1165.43	33	chr10	53840371	.	T	C	1165.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.044;DP=468;ExcessHet=0;FS=0.611;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.52;ReadPosRankSum=0.301;SOR=0.621	GT:AD:DP:GQ:PL	0/1:97,58:155:99:1177,0,2284	9	0	1	0
chr10	63168077	63168077	C	T	exonic	JMJD1C	.	nonsynonymous SNV	JMJD1C:NM_001322254:exon24:c.G6934A:p.E2312K,JMJD1C:NM_001282948:exon25:c.G7045A:p.E2349K,JMJD1C:NM_001318153:exon25:c.G6727A:p.E2243K,JMJD1C:NM_001322252:exon25:c.G7477A:p.E2493K,JMJD1C:NM_001322258:exon25:c.G6934A:p.E2312K,JMJD1C:NM_001318154:exon26:c.G7045A:p.E2349K,JMJD1C:NM_032776:exon26:c.G7591A:p.E2531K	.	433	1078	10	1	0	12	0.00553506	.	.	.	460100	JMJD1C-related_disorder|not_provided|Early_myoclonic_encephalopathy	.|MedGen:C3661900|MedGen:C0270855	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.165	.	0.0074	0.00199681	0.0041	0.0013	0.0023	0	0.0017	0.0060	0.0022	0.0027	0.0044372	686	154602	rs71508957	0.0072	0.0073	0.0074	0.0070	0.0086	0.0071	0.0070	0.0085	0.0084	0.0013	0.0025	0.0011	0	0.0015	0.0042	0.0086	0.0069	0.0029	0.0047	0.0047	0.0052	0.0042	0.0082	0.0044	0.0043	0.0077	0.0074	0.0015	0	0.0033	0.0014	0	0.0007	0.0034	0.0082	0.0057	0.0033	0.044	0.41096	D	0.042	0.52389	D	0.997	0.70673	D	0.726	0.55126	P	0.000055	0.53742	D	0.128349	0.993969	0.81001	D	1.355	0.33814	L	-0.28	0.67543	T	-2.52	0.54702	D	0.627	0.64137	-0.4908	0.68980	T	0.243	0.61177	T	10	0.004607469	0.00096	T	.	.	.	0.165	0.42395	.	.	0.645501326148	0.64257	0.2206170398428802	0.21976	2.02551538596	0.94040	0.588886797428	0.51336	T	0.034368	0.23294	T	-0.299995	0.08660	T	-0.196733	0.54955	T	0.0177050525326067	0.00501	T	0.937806	0.76632	D	0.3044758	0.53303	0.21059988	0.45453	0.3044758	0.53303	0.21059988	0.45452	-2.187	0.03978	T	0.6205991717567377	0.68894	0.093	0.30842	B	.;.;.	.;.;.	3.995628	0.58836	24.0	0.99889614105615565	0.96436	0.93086	0.57292	D	AEFGBI	0.355040	0.44691	N	0.305126537928277	0.56411	3.805805	0.395343346201891	0.61278	4.325628	0.999889927259242	0.44867	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.741806	0.99463	0	.	.	5.42	5.42	0.78666	2.640000	0.46245	7.673000	0.64890	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	19.212	0.93746	558	0.71484	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.003024	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.011364	0.1	2290.12	34	chr10	63168077	.	C	T	2290.12	.	AC=2;AF=0.1;AN=20;DP=422;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.27;SOR=0.718	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2313,242,0	9	1	0	0
chr10	71675134	71675134	C	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon14:c.C1472T:p.T491I,CDH23:NM_001171931:exon14:c.C1472T:p.T491I,CDH23:NM_022124:exon14:c.C1472T:p.T491I	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	1507	14	1	0	16	0.00528053	.	.	.	55038	Usher_syndrome_type_1D|not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_12	MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.046	0.00780733628355	.	0.000199681	0.0001	0	0	0	0.0002	3.002e-05	0	0.0009	0.0001164	18	154602	rs397517307	7.662e-05	7.661e-05	5.309e-05	0.0001	0.0010	6.491e-05	6.071e-05	0.0008	0.0007	0	0	0	0	7.491e-05	0.0007	1.709e-05	4.969e-05	0.0010	4.595e-05	4.593e-05	3.854e-05	5.37e-05	0.0008	2.107e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0	0	0	4.41e-05	0	0.0008	0.034	0.44029	D	0.051	0.76473	T	0.005	0.12996	B	0.014	0.16862	B	0.000251	0.46924	D	0.136830	0.609467	0.32608	D	0.445	0.12748	N	.	.	.	-2.43	0.53258	N	0.235	0.61426	-1.0722	0.08936	T	0.068	0.27913	T	9	0.06233692	0.07953	T	0.007807	0.20720	T	0.046	0.12618	0.407	0.44066	0.681506247658	0.67879	0.3607564847870143	0.35989	.	.	0.51847165823	0.41411	T	0.028988	0.53038	T	-0.441984	0.01259	T	-0.458097	0.26806	T	0.0661126765743497	0.08095	T	0.80032	0.44603	T	0.08309453	0.19174	0.14932433	0.35262	0.08006618	0.18326	0.25829297	0.51559	-5.845	0.44965	T	.	.	0.072	0.07841	B	.;.;.;.;.;.	.;.;.;.;.;.	2.775661	0.36443	20.2	0.99687927320463887	0.79708	0.88440	0.48369	D	AEFDBI	0.242165	0.36367	N	-0.430966283039247	0.24390	1.316608	-0.227183260809623	0.30566	1.722127	0.996872804950249	0.35080	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	5.72	2.61	0.30255	1.974000	0.40183	2.789000	0.34784	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.746000	0.35646	0.0:0.6803:0.2532:0.0666	12.092	0.53036	894	0.26265	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2560.43	43	chr10	71675134	.	C	T	2560.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.006;DP=691;ExcessHet=0;FS=1.238;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=1.21;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,68:161:99:0|1:71675131_G_C:2572,0,3629:71675131	9	0	1	0
chr10	85647267	85647267	G	A	exonic	GRID1	.	nonsynonymous SNV	GRID1:NM_017551:exon13:c.C2128T:p.R710W	.	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.350	0.0604126611595	0.0002	0.000199681	0.0001	9.612e-05	0	0	0	4.496e-05	0	0.0007	0.0001035	16	154602	rs377669879	0.0001	0.0001	8.576e-05	0.0001	0.0009	9.94e-05	9.348e-05	0.0007	0.0007	5.974e-05	4.472e-05	0	0	1.872e-05	0.0007	6.475e-05	0.0001	0.0009	7.222e-05	7.217e-05	5.138e-05	9.399e-05	0.0006	3.968e-05	3.125e-05	0.0002	8.992e-05	2.407e-05	0	0	0	0	9.422e-05	0	8.819e-05	0	0.0006	0.005	0.63226	D	0.002	0.79402	D	0.981	0.59675	D	0.625	0.51564	P	0.000010	0.62929	D	0.143577	1	0.81001	D	2.83	0.82355	M	1.7	0.26885	T	-3.34	0.66325	D	0.594	0.61341	-0.6968	0.60591	T	0.111	0.39817	T	10	0.26609462	0.44111	T	0.060413	0.67993	D	0.350	0.67142	.	.	0.256237801699	0.25221	0.7677471108163131	0.76723	0.838637053971	0.67932	0.796920657158	0.81495	T	0.79597	0.94747	D	-0.301992	0.08472	T	-0.292072	0.45558	T	0.690339088439941	0.40263	D	0.981602	0.93790	D	0.36703163	0.58365	0.2687183	0.52744	0.36703163	0.58365	0.2687183	0.52743	-11.072	0.80051	D	.	.	0.494	0.64320	A	.	.	3.917680	0.57180	23.8	0.99825935079263484	0.90852	0.80373	0.40028	D	AEFDBI	0.740854	0.68497	D	-0.117058500806068	0.36651	2.12131	-0.259528515032187	0.29444	1.649694	0.087909997553158	0.16046	0.554377	0.28877	0	0.573888	0.26702	0	0.597571	0.31856	0	0.567892	0.33627	0	.	.	5.7	-5.39	0.02457	1.430000	0.34522	-0.150000	0.11428	-0.140000	0.12423	1.000000	0.71638	0.202000	0.23578	0.974000	0.55675	0.0:0.0:0.6216:0.3784	19.197	0.93677	949	0.11373	Ionotropic glutamate receptor|Ionotropic glutamate receptor	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2101.43	33	chr10	85647267	.	G	A	2101.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.754;DP=495;ExcessHet=0;FS=1.137;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.832;SOR=0.787	GT:AD:DP:GQ:PL	0/1:88,97:185:99:2113,0,1942	9	0	1	0
chr10	87232948	87232948	C	T	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon5:c.C1697T:p.T566I	.	477	972	70	3	0	76	0.0376238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	0.0259585	0.0194	0.0025	0	0.0685	0.0259	0.0249	0	0	0.0049946	130	26028	rs202126908	0.0012	0.0039	0.0010	0.0013	0.0044	0.0011	0.0011	0.0039	0.0037	0.0008	0.0009	0.0057	0.0044	0.0016	0.0019	0.0008	0.0017	0.0025	0.0033	0.0080	0.0032	0.0034	0.0112	0.0030	0.0029	0.0087	0.0078	0.0032	0.0037	0.0028	0.0142	0.0112	0.0028	0.0043	0.0024	0.0016	0.0032	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	.	.	.	3.4	0.14284	T	4.16	0.00060	N	0.057	0.03175	-0.9445	0.41895	T	0.006	0.02018	T	10	0.0018707514	0.00025	T	.	.	.	0.058	0.16647	.	.	0.043077524339	0.03247	0.011859587337732114	0.01145	.	.	0.664815962315	0.62098	T	0.003499	0.02909	T	-0.256714	0.13287	T	-0.606528	0.12270	T	0.00567222257557896	0.00062	T	0.0425957	0.00300	T	0.019963365	0.00539	0.03269047	0.02043	0.019963365	0.00539	0.03269047	0.02043	3.966	0.00009	T	.	.	0.051	0.00187	B	.;.	.;.	-0.721230	0.01272	0.067	0.74543639528431049	0.10734	0.00003	0.00079	N	AEFI	0.011378	0.00100	N	-1.99035120200077	0.00222	0.009508936	-1.91549691999944	0.00456	0.02018859	1.31856290869846E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.29	1.29	0.20717	0.255000	0.18102	-0.265000	0.10395	-0.628000	0.04523	0.029000	0.20367	0.000000	0.08366	0.396000	0.26692	0.0:0.2359:0.0:0.7641	3.588	0.07525	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	0.008900	0.011364	0.014085	0.000000	0.000000	0.000000	0.010638	0.000000	0.1667	418.26	60	chr10	87232948	.	C	T	418.26	.	AC=3;AF=0.167;AN=18;BaseQRankSum=2.01;DP=311;ExcessHet=0.7463;FS=34.917;InbreedingCoeff=-0.2084;MLEAC=3;MLEAF=0.167;MQ=31.56;MQRankSum=-3.567;QD=4.4;ReadPosRankSum=0.595;SOR=4.375	GT:AD:DP:GQ:PL	0/1:13,2:15:12:12,0,347	6	0	3	1
chr10	95974133	95974133	A	C	exonic	CC2D2B	.	nonsynonymous SNV	CC2D2B:NM_001349008:exon17:c.A1920C:p.Q640H	.	573	947	2	0	0	2	0.00105485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0026	0	0	0	0	0.0022	0	0.0179	0.0005563	86	154602	rs190166673	0.0046	0.0035	0.0047	0.0045	0.0065	0.0045	0.0045	0.0056	0.0053	0.0005	0.0007	0.0001	0	0.0043	0.0031	0.0049	0.0063	0.0065	0.0031	0.0031	0.0031	0.0030	0.0058	0.0029	0.0028	0.0042	0.0040	0.0008	0.0022	0.0026	0	0	0.0049	0	0.0046	0.0005	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010562688	0.00234	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.326676	0.06366	T	-0.240933	0.50707	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.467864	0.18916	13.99	0.59320014925695674	0.06197	0.72752	0.35600	D	AEFBI	0.237649	0.35990	N	.	.	.	.	.	.	1.78516359152184E-5	0.02871	0.078448	0.01964	0	0.097471	0.02872	0	0.063197	0.01477	0	0.058706	0.01089	0	.	.	5.91	4.06	0.46572	1.298000	0.33017	.	.	-0.679000	0.04243	1.000000	0.71638	1.000000	0.68203	0.033000	0.13494	0.2286:0.0:0.7714:0.0	8.899	0.34641	670	0.60992	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1293.43	66	chr10	95974133	.	A	C	1293.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=505;ExcessHet=0;FS=0.725;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.038;SOR=0.781	GT:AD:DP:GQ:PL	0/1:58,53:111:99:1305,0,1406	9	0	1	0
chr10	103368376	103368387	CTCCGGAGCCCC	-	exonic	TAF5	.	nonframeshift deletion	TAF5:NM_006951:exon1:c.387_398del:p.S130_P133del,TAF5:NM_139052:exon1:c.387_398del:p.S130_P133del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	105.39	34	chr10	103368375	.	GCTCCGGAGCCCC	G	105.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.239;DP=483;ExcessHet=0;FS=40.992;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.51;ReadPosRankSum=-3.305;SOR=2.506	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,7:30:99:0|1:103368375_GCTCCGGAGCCCC_G:117,0,945:103368375	9	0	1	0
chr10	103368377	103368377	T	0	exonic	TAF5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	8116.8	90	chr10	103368377	.	T	*	8116.8	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.183;DP=493;ExcessHet=2.4664;FS=124.344;InbreedingCoeff=-0.4141;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=20.76;ReadPosRankSum=0.553;SOR=0.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,7:30:99:0|1:103368375_GCTCCGGAGCCCC_G:117,0,945:103368375	7	0	1	2
chr10	103368393	103368393	A	G	exonic	TAF5	.	nonsynonymous SNV	TAF5:NM_006951:exon1:c.A404G:p.E135G,TAF5:NM_139052:exon1:c.A404G:p.E135G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.153720025215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.83e-07	3.593e-05	1.553e-06	0	9.975e-07	0	0	.	.	0	0	0	0	0	0	9.975e-07	0	0	2.733e-05	0.0001	2.669e-05	2.799e-05	6.733e-05	8.39e-06	5.3e-06	.	.	0	0	6.733e-05	0	0	0.0002	0	0	0.0005	0	0.154	0.24277	T	0.268	0.22494	T	0.0	0.02946	B	0.0	0.01387	B	0.132992	0.18567	N	0.537430	0.862857	0.28328	N	1.04	0.26193	L	0.6	0.53731	T	-0.79	0.21860	N	0.03	0.00717	-1.0488	0.14733	T	0.078	0.31103	T	10	0.09397647	0.16674	T	0.15372	0.83494	D	0.101	0.28911	0.075	0.00517	0.367638622828	0.36380	0.16757897474813674	0.16677	0.894647151709	0.70397	0.819475531578	0.84947	D	0.011152	0.09990	T	-0.144445	0.29184	T	-0.445262	0.28220	T	0.29301992058754	0.24716	T	0.480552	0.14510	T	0.15430008	0.34932	0.1793036	0.40655	0.15430008	0.34931	0.1793036	0.40655	-1.539	0.01846	T	.	.	0.060	0.00919	B	.	.	3.217617	0.43821	21.8	0.98831101200191784	0.46952	0.55304	0.29830	D	AEFDBHCIJ	0.052950	0.09498	N	-0.424724002173416	0.24605	1.329748	-0.258590702986731	0.29477	1.651733	0.999999622365115	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.45	3.27	0.36580	1.494000	0.35225	8.749000	0.78216	0.658000	0.54486	0.996000	0.39380	1.000000	0.68203	0.942000	0.48361	0.6492:0.181:0.1698:0.0	4.400	0.10810	237	0.90758	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	107.43	37	chr10	103368393	.	A	G	107.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.901;DP=424;ExcessHet=0;FS=40.399;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.13;ReadPosRankSum=-2.316;SOR=2.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,6:26:99:0|1:103368375_GCTCCGGAGCCCC_G:119,0,786:103368375	9	0	1	0
chr10	103368396	103368396	T	G	exonic	TAF5	.	nonsynonymous SNV	TAF5:NM_006951:exon1:c.T407G:p.V136G,TAF5:NM_139052:exon1:c.T407G:p.V136G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0784865363874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.438e-06	7.61e-05	3.079e-06	7.841e-06	5.692e-05	2.26e-06	1.45e-06	9.43e-06	3.53e-06	0	5.692e-05	0	3.259e-05	0	0	3.945e-06	0	0	4.807e-05	0.0002	6.7e-05	2.817e-05	6.049e-05	2.195e-05	1.582e-05	2.011e-05	1.151e-05	2.502e-05	0	0	0	0	0.0002	0	6.049e-05	0	0	0.506	0.07594	T	0.391	0.15456	T	0.002	0.09854	B	0.003	0.08700	B	0.442574	0.12609	N	0.734402	0.866106	0.35476	D	-0.895	0.01383	N	0.73	0.50721	T	-0.15	0.09297	N	0.089	0.06720	-1.0591	0.11981	T	0.063	0.26279	T	10	0.052879363	0.05390	T	0.078487	0.73017	D	0.044	0.11924	0.113	0.02240	0.143184338766	0.13958	0.20401842641528983	0.20318	0.990479955859	0.74054	0.770609021187	0.77515	T	0.008563	0.07851	T	-0.170808	0.25112	T	-0.483131	0.24113	T	0.121761955320835	0.14601	T	0.279972	0.04873	T	0.042733803	0.06534	0.058080304	0.10671	0.042733803	0.06533	0.058080304	0.10670	-1.882	0.02765	T	.	.	0.051	0.00165	B	.	.	2.071018	0.26338	17.08	0.86345754343650649	0.16475	0.72394	0.35436	D	AEFDBHCIJ	0.187123	0.31442	N	-0.727865208978981	0.15241	0.7663986	-0.601647704353175	0.19451	1.043616	0.999998671693393	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.45	-1.59	0.08003	0.652000	0.24573	-0.184000	0.11104	0.580000	0.29708	0.976000	0.34826	0.582000	0.25626	0.975000	0.56047	0.1471:0.5411:0.0:0.3117	6.911	0.23515	237	0.90758	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004592	0.010638	0.004144	0.000000	0.000000	0.000000	0.009202	0.003817	0.0625	108.73	37	chr10	103368396	.	T	G	108.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.529;DP=393;ExcessHet=0;FS=33.274;InbreedingCoeff=-0.1112;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=4.53;ReadPosRankSum=-1.863;SOR=1.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,5:24:99:0|1:103368375_GCTCCGGAGCCCC_G:119,0,746:103368375	7	0	1	2
chr10	117134075	117134075	G	A	exonic	VAX1	.	nonsynonymous SNV	VAX1:NM_001112704:exon3:c.C938T:p.S313F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.796	0.544276259804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.225e-07	1.368e-06	1.425e-06	0	9.324e-07	0	0	.	.	0	0	0	0	0	0	9.324e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.995	0.67487	D	0.979	0.74454	D	0.000150	0.49130	N	0.180559	0.996548	0.81001	D	2.465	0.71551	M	-3.66	0.95212	D	-2.03	0.46673	N	0.453	0.49055	0.900	0.95672	D	0.861	0.95383	D	10	0.5615797	0.64817	D	0.544276	0.95770	D	0.796	0.93306	0.43	0.47843	0.842724053085	0.84121	0.7161024678437394	0.71553	1.96496244728	0.93511	0.798766970634	0.81775	T	0.254781	0.62548	T	0.310452	0.83780	D	0.208166	0.83570	D	0.98175722360611	0.74092	D	0.889011	0.61998	D	0.4515985	0.64142	0.65866166	0.80006	0.4515985	0.64142	0.65866166	0.80007	-8.936	0.67284	D	.	.	0.991	0.94026	P	.	.	5.507627	0.91651	32	0.99712948146031288	0.81493	0.99163	0.92158	D	AEFDBCI	0.885020	0.81519	D	0.635147647452856	0.75410	6.301008	0.604212947180989	0.75246	6.276635	0.99997173872051	0.50053	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.22	4.22	0.49153	6.883000	0.75397	11.635000	0.93737	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.843:0.157	13.446	0.60591	704	0.57414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1849.43	35	chr10	117134075	.	G	A	1849.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.125;DP=461;ExcessHet=0;FS=0.635;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=1.33;SOR=0.782	GT:AD:DP:GQ:PL	0/1:57,84:141:99:1861,0,1113	9	0	1	0
chr10	117254467	117254467	G	A	exonic	SLC18A2	.	nonsynonymous SNV	SLC18A2:NM_003054:exon6:c.G670A:p.A224T	.	.	.	.	.	.	.	.	.	.	.	1442180	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.471	0.0169745701376	0.0002	.	0.0001	0.0014	0	0	0	0	0	0	9.7e-05	15	154602	rs145374366	4.873e-05	5.062e-05	5.462e-05	4.278e-05	0.0009	3.939e-05	3.617e-05	0.0006	0.0006	0.0009	4.535e-05	3.874e-05	2.523e-05	0	0	3.155e-05	3.324e-05	0	0.0003	0.0003	0.0004	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0011	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.003	0.76473	D	0.964	0.55854	D	0.668	0.53048	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.945	0.84822	M	0.28	0.59037	T	-3.85	0.72353	D	0.816	0.81162	-0.2141	0.77307	T	0.398	0.75009	T	10	0.43062025	0.57466	T	0.016975	0.38486	T	0.471	0.76487	.	.	0.803198005799	0.80135	0.6405548206566508	0.63990	0.469475219527	0.46252	0.737298130989	0.72575	T	0.628129	0.88439	D	-0.0872796	0.38525	T	0.0563008	0.74000	D	0.395608431030983	0.28777	T	0.988826	0.96199	D	0.70503545	0.78333	0.775469	0.86752	0.70503545	0.78334	0.775469	0.86753	-10.156	0.74840	D	.	.	0.621	0.69738	P	.;.	.;.	5.475626	0.91325	32	0.99901159446530086	0.97275	0.96162	0.67817	D	AEFDBHCI	0.925306	0.90464	D	0.900837531841351	0.91799	11.07145	0.895168716732621	0.95358	13.54702	0.999999999998984	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.94	5.94	0.96165	9.886000	0.98550	11.717000	0.94751	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.359	0.98850	733	0.53988	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	.	.	.	.	.	.	.	.	0.05	1185.43	34	chr10	117254467	.	G	A	1185.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.653;DP=473;ExcessHet=0;FS=2.17;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=0.211;SOR=0.506	GT:AD:DP:GQ:PL	0/1:79,60:139:99:1197,0,1830	9	0	1	0
chr10	119827427	119827427	G	T	exonic	INPP5F	.	nonsynonymous SNV	INPP5F:NM_001243194:exon6:c.G1216T:p.V406F,INPP5F:NM_014937:exon20:c.G3046T:p.V1016F	.	431	1086	5	0	0	5	0.00229674	.	.	.	2259134	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.314	0.0271962218487	0.0005	0.000399361	0.0004	0.0006	0.0007	0	0	0.0004	0	0.0001	0.0002846	44	154602	rs150134182	0.0003	0.0003	0.0003	0.0003	0.0042	0.0003	0.0002	0.0029	0.0024	0.0004	0.0008	0.0005	0	1.872e-05	0.0042	0.0002	0.0008	0.0002	0.0004	0.0004	0.0005	0.0003	0.0008	0.0003	0.0003	0.0005	0.0004	0.0004	0	0.0008	0.0006	0.0002	0	0.0068	0.0004	0.0009	0.0004	0.003	0.72154	D	0.055	0.70582	T	0.974	0.57829	D	0.459	0.46380	P	0.001425	0.39044	N	0.219164	1	0.81001	D	1.1	0.28011	L	0.61	0.59983	T	-1.22	0.35194	N	0.567	0.73826	-0.3869	0.72439	T	0.356	0.71873	T	10	0.12022507	0.22767	T	0.027196	0.50036	D	0.314	0.63588	.	.	0.509053020717	0.50544	0.6115224916935186	0.61084	0.547728205502	0.51742	0.547327637672	0.45481	T	0.288823	0.66161	T	0.0327735	0.56091	T	0.180386	0.82017	D	0.0478372051556	0.05114	T	0.920308	0.71149	D	0.2026471	0.42316	0.14761087	0.34924	0.2026471	0.42316	0.14761087	0.34924	-4.391	0.29435	T	.	.	0.155	0.57060	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.774654	0.54236	23.5	0.99118988392906415	0.52932	0.97512	0.75231	D	AEFDGBCI	0.908030	0.86280	D	0.539413667019715	0.69439	5.357148	0.481384880984911	0.66757	4.993861	0.999999999999993	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.92	5.92	0.95557	9.475000	0.96856	11.871000	0.98575	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0:0.0:1.0:0.0	20.325	0.98698	557	0.71576	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.006793	0.008772	0.000000	0.008621	0.003049	0.003788	0.05	1909.43	241	chr10	119827427	.	G	T	1909.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.447;DP=749;ExcessHet=0;FS=1.143;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=1.47;SOR=0.818	GT:AD:DP:GQ:PL	0/1:104,83:187:99:1921,0,2639	9	0	1	0
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	.	.	.	.	.	.	.	.	0.45	8292.02	133	chr10	124989543	.	T	C	8292.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.997;DP=1182;ExcessHet=15.1594;FS=11.175;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=50.01;MQRankSum=-8.13;QD=7.76;ReadPosRankSum=0.874;SOR=0.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,37:137:99:0|1:124989533_G_A:1197,0,4021:124989533	1	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4284.98	127	chr10	124989564	.	TG	T	4284.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.961;DP=1243;ExcessHet=15.1594;FS=12.6;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=52;MQRankSum=-7.935;QD=3.92;ReadPosRankSum=-1.956;SOR=0.21	GT:AD:DP:GQ:PL	0/1:110,26:136:99:564,0,3689	1	0	9	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G,CTBP2:NM_022802:exon9:c.C2897G:p.A966G,CTBP2:NM_001321013:exon10:c.C1277G:p.A426G,CTBP2:NM_001083914:exon11:c.C1277G:p.A426G,CTBP2:NM_001290214:exon11:c.C1277G:p.A426G,CTBP2:NM_001290215:exon11:c.C1277G:p.A426G,CTBP2:NM_001321012:exon11:c.C1277G:p.A426G,CTBP2:NM_001321014:exon11:c.C1277G:p.A426G,CTBP2:NM_001329:exon11:c.C1277G:p.A426G	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	891.5	129	chr10	124989579	.	G	C	891.5	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.11;DP=1298;ExcessHet=1.5895;FS=10.607;InbreedingCoeff=-0.4692;MLEAC=5;MLEAF=0.417;MQ=54.19;MQRankSum=-7.856;QD=1.62;ReadPosRankSum=-3.028;SOR=0.213	GT:AD:DP:GQ:PL	0/1:133,21:154:99:194,0,3532	2	0	4	4
chr10	124989594	124989594	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1466T:p.A489V,CTBP2:NM_022802:exon9:c.C2882T:p.A961V,CTBP2:NM_001321013:exon10:c.C1262T:p.A421V,CTBP2:NM_001083914:exon11:c.C1262T:p.A421V,CTBP2:NM_001290214:exon11:c.C1262T:p.A421V,CTBP2:NM_001290215:exon11:c.C1262T:p.A421V,CTBP2:NM_001321012:exon11:c.C1262T:p.A421V,CTBP2:NM_001321014:exon11:c.C1262T:p.A421V,CTBP2:NM_001329:exon11:c.C1262T:p.A421V	.	434	994	92	2	0	96	0.0460653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.0164095717119	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs796932553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.61437	D	0.153	0.47581	T	0.0	0.29493	B	0.003	0.29851	B	0.000074	0.52346	D	0.171354	0.998727	0.45339	D	0	0.06538	N	-1.7	0.83893	D	-1.52	0.36980	N	0.068	0.35088	-0.3593	0.73284	T	0.375	0.73332	T	10	0.20304337	0.36446	T	0.01641	0.37653	T	0.413	0.72404	0.116	0.02439	0.921111971606	0.92031	0.4850374405507885	0.48423	1.38571311652	0.84878	0.61237859726	0.54653	T	0.238026	0.60585	T	0.178629	0.71918	D	0.0188116	0.71553	D	0.939782977104187	0.61154	D	0.778122	0.41194	T	0.23727793	0.46589	0.19780372	0.43581	0.23727793	0.46589	0.19780372	0.43580	-4.076	0.27513	T	.	.	0.188	0.40538	B	.;.;.;.;.;.	.;.;.;.;.;.	3.666132	0.52110	23.2	0.99088467818009263	0.52149	0.89521	0.50038	D	AEFDGBCI	0.658597	0.62981	D	0.0387136870084276	0.43625	2.651733	0.235082274552022	0.51805	3.359932	0.999999999873815	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	5.529000	0.66849	9.961000	0.82795	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	16.928	0.86052	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	54.37	42	chr10	124989594	.	G	A	54.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-0.948;DP=1072;ExcessHet=0.2348;FS=3.834;InbreedingCoeff=-0.1428;MLEAC=2;MLEAF=0.111;MQ=55.86;MQRankSum=-6.971;QD=0.17;ReadPosRankSum=-3.282;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:162,14:176:28:.:.:28,0,6722:.	7	0	2	1
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4849.02	142	chr10	124994489	.	T	G	4849.02	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.87;DP=1577;ExcessHet=22.563;FS=32.626;InbreedingCoeff=-0.998;MLEAC=10;MLEAF=0.5;MQ=58.54;MQRankSum=-5.718;QD=3.23;ReadPosRankSum=-4.421;SOR=3.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,21:167:99:0|1:124994489_T_G:442,0,6027:124994489	0	0	10	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	.	.	.	.	.	.	.	.	0.5	6034.04	150	chr10	124994501	.	G	A	6034.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.21;DP=1649;ExcessHet=22.563;FS=38.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.03;MQRankSum=-5.929;QD=3.89;ReadPosRankSum=-3.325;SOR=3.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,23:175:99:0|1:124994489_T_G:504,0,6310:124994489	0	0	10	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	.	.	.	.	.	.	.	.	0.5	6176.04	150	chr10	124994505	.	A	T	6176.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.17;DP=1668;ExcessHet=22.563;FS=40.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.93;MQRankSum=-5.733;QD=4.01;ReadPosRankSum=-2.482;SOR=3.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,23:174:99:0|1:124994489_T_G:507,0,6258:124994489	0	0	10	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	.	.	.	.	.	.	.	.	0.5	8820.04	174	chr10	124994530	.	G	A	8820.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.599;DP=1823;ExcessHet=22.563;FS=63.896;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.45;MQRankSum=-4.587;QD=5.36;ReadPosRankSum=1.32;SOR=4.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,30:186:99:0|1:124994523_G_A:731,0,6375:124994523	0	0	10	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	.	.	.	.	.	.	.	.	0.5	4694.8	180	chr10	124994542	.	C	T	4694.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-1.796;DP=1829;ExcessHet=15.1594;FS=59.93;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=57.08;MQRankSum=-4.748;QD=3.27;ReadPosRankSum=2.87;SOR=4.447	GT:AD:DP:GQ:PL	0/1:152,33:185:99:364,0,4010	0	0	9	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	.	.	.	.	.	.	.	.	0.45	4755.02	191	chr10	124994563	.	A	T	4755.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.391;DP=1867;ExcessHet=15.1594;FS=69.308;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.08;MQRankSum=-4.998;QD=3.27;ReadPosRankSum=3.5;SOR=4.822	GT:AD:DP:GQ:PL	0/1:142,40:182:99:549,0,3827	1	0	9	0
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	12161.0	190	chr10	124994577	.	C	A	12161.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.833;DP=1897;ExcessHet=22.563;FS=80.112;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.03;MQRankSum=-5.452;QD=7.18;ReadPosRankSum=2.73;SOR=4.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,42:185:99:0|1:124994577_C_A:1333,0,5701:124994577	0	0	10	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S,CTBP2:NM_022802:exon4:c.G2072C:p.W691S,CTBP2:NM_001321013:exon5:c.G452C:p.W151S,CTBP2:NM_001083914:exon6:c.G452C:p.W151S,CTBP2:NM_001290214:exon6:c.G452C:p.W151S,CTBP2:NM_001290215:exon6:c.G452C:p.W151S,CTBP2:NM_001321012:exon6:c.G452C:p.W151S,CTBP2:NM_001321014:exon6:c.G452C:p.W151S,CTBP2:NM_001329:exon6:c.G452C:p.W151S	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	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	.	.	.	.	.	.	.	.	0.3571	1004.29	183	chr10	124998077	.	C	G	1004.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.613;DP=1900;ExcessHet=2.8389;FS=16.906;InbreedingCoeff=-0.4814;MLEAC=6;MLEAF=0.429;MQ=58.73;MQRankSum=-8.775;QD=1.13;ReadPosRankSum=0.514;SOR=2.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,20:198:99:0|1:124998077_C_G:304,0,7405:124998077	2	0	5	3
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R,CTBP2:NM_022802:exon4:c.C2069G:p.T690R,CTBP2:NM_001321013:exon5:c.C449G:p.T150R,CTBP2:NM_001083914:exon6:c.C449G:p.T150R,CTBP2:NM_001290214:exon6:c.C449G:p.T150R,CTBP2:NM_001290215:exon6:c.C449G:p.T150R,CTBP2:NM_001321012:exon6:c.C449G:p.T150R,CTBP2:NM_001321014:exon6:c.C449G:p.T150R,CTBP2:NM_001329:exon6:c.C449G:p.T150R	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	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	.	.	.	.	.	.	.	.	0.3571	971.29	186	chr10	124998080	.	G	C	971.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.672;DP=1891;ExcessHet=2.8389;FS=14.731;InbreedingCoeff=-0.4812;MLEAC=6;MLEAF=0.429;MQ=58.72;MQRankSum=-8.749;QD=1.08;ReadPosRankSum=0.762;SOR=2.872	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,20:206:99:0|1:124998077_C_G:280,0,7750:124998077	2	0	5	3
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G,CTBP2:NM_022802:exon4:c.A2062G:p.R688G,CTBP2:NM_001321013:exon5:c.A442G:p.R148G,CTBP2:NM_001083914:exon6:c.A442G:p.R148G,CTBP2:NM_001290214:exon6:c.A442G:p.R148G,CTBP2:NM_001290215:exon6:c.A442G:p.R148G,CTBP2:NM_001321012:exon6:c.A442G:p.R148G,CTBP2:NM_001321014:exon6:c.A442G:p.R148G,CTBP2:NM_001329:exon6:c.A442G:p.R148G	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	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	.	.	.	.	.	.	.	.	0.3571	995.27	187	chr10	124998087	.	T	C	995.27	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.122;DP=1868;ExcessHet=2.8389;FS=17.019;InbreedingCoeff=-0.4808;MLEAC=6;MLEAF=0.429;MQ=58.66;MQRankSum=-8.749;QD=1.12;ReadPosRankSum=2.66;SOR=2.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,20:202:99:0|1:124998077_C_G:292,0,7582:124998077	2	0	5	3
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W,CTBP2:NM_022802:exon4:c.C2059T:p.R687W,CTBP2:NM_001321013:exon5:c.C439T:p.R147W,CTBP2:NM_001083914:exon6:c.C439T:p.R147W,CTBP2:NM_001290214:exon6:c.C439T:p.R147W,CTBP2:NM_001290215:exon6:c.C439T:p.R147W,CTBP2:NM_001321012:exon6:c.C439T:p.R147W,CTBP2:NM_001321014:exon6:c.C439T:p.R147W,CTBP2:NM_001329:exon6:c.C439T:p.R147W	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	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	.	.	.	.	.	.	.	.	0.3571	949.91	192	chr10	124998090	.	G	A	949.91	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.555;DP=1882;ExcessHet=2.8389;FS=14.717;InbreedingCoeff=-0.4625;MLEAC=6;MLEAF=0.429;MQ=58.73;MQRankSum=-8.697;QD=1.05;ReadPosRankSum=2.21;SOR=2.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,20:206:99:0|1:124998077_C_G:280,0,7703:124998077	2	0	5	3
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G,CTBP2:NM_022802:exon4:c.T2038G:p.C680G,CTBP2:NM_001321013:exon5:c.T418G:p.C140G,CTBP2:NM_001083914:exon6:c.T418G:p.C140G,CTBP2:NM_001290214:exon6:c.T418G:p.C140G,CTBP2:NM_001290215:exon6:c.T418G:p.C140G,CTBP2:NM_001321012:exon6:c.T418G:p.C140G,CTBP2:NM_001321014:exon6:c.T418G:p.C140G,CTBP2:NM_001329:exon6:c.T418G:p.C140G	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	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	.	.	.	.	.	.	.	.	0.2857	1004.3	197	chr10	124998111	.	A	C	1004.3	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.527;DP=1890;ExcessHet=1.5895;FS=14.586;InbreedingCoeff=-0.3924;MLEAC=5;MLEAF=0.357;MQ=58.74;MQRankSum=-8.929;QD=1.45;ReadPosRankSum=3.72;SOR=2.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,20:201:99:0|1:124998111_A_C:295,0,7540:124998111	3	0	4	3
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T,CTBP2:NM_022802:exon4:c.T2036C:p.I679T,CTBP2:NM_001321013:exon5:c.T416C:p.I139T,CTBP2:NM_001083914:exon6:c.T416C:p.I139T,CTBP2:NM_001290214:exon6:c.T416C:p.I139T,CTBP2:NM_001290215:exon6:c.T416C:p.I139T,CTBP2:NM_001321012:exon6:c.T416C:p.I139T,CTBP2:NM_001321014:exon6:c.T416C:p.I139T,CTBP2:NM_001329:exon6:c.T416C:p.I139T	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	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	.	.	.	.	.	.	.	.	0.2857	991.72	201	chr10	124998113	.	A	G	991.72	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.497;DP=1880;ExcessHet=1.5895;FS=14.586;InbreedingCoeff=-0.3802;MLEAC=5;MLEAF=0.357;MQ=58.73;MQRankSum=-9.005;QD=1.42;ReadPosRankSum=3.57;SOR=2.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,20:202:99:0|1:124998111_A_C:292,0,7562:124998111	3	0	4	3
chr10	125003357	125003357	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C398T:p.T133M,CTBP2:NM_022802:exon2:c.C1814T:p.T605M,CTBP2:NM_001321013:exon3:c.C194T:p.T65M,CTBP2:NM_001083914:exon4:c.C194T:p.T65M,CTBP2:NM_001290214:exon4:c.C194T:p.T65M,CTBP2:NM_001290215:exon4:c.C194T:p.T65M,CTBP2:NM_001321012:exon4:c.C194T:p.T65M,CTBP2:NM_001321014:exon4:c.C194T:p.T65M,CTBP2:NM_001329:exon4:c.C194T:p.T65M	.	424	862	235	1	0	237	0.120857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.785	0.338057885342	.	.	1.698e-05	0	0	0	0	3.122e-05	0	0	1.29e-05	2	154602	rs768573864	8.23e-06	8.209e-06	1.092e-05	5.513e-06	8.998e-06	4.39e-06	3.47e-06	4.55e-06	3.32e-06	0	0	0	0	1.905e-05	0	8.998e-06	1.662e-05	0	6.571e-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	0.005	0.78490	D	0.041	0.58089	D	0.924	0.73220	P	0.646	0.66904	P	0.000000	0.84330	D	0.047645	1	0.81001	D	1.975	0.53506	M	-1.93	0.84842	D	-5.55	0.89152	D	0.825	0.82964	0.559	0.91361	D	0.703	0.89790	D	10	0.84322035	0.83481	D	0.338058	0.91938	D	0.785	0.92868	0.55	0.66576	0.871695389801	0.87044	0.8858696461970613	0.88555	2.04020034352	0.94242	0.847845315933	0.89288	D	0.769737	0.93827	D	0.312043	0.83899	D	0.210452	0.83688	D	0.965979218482971	0.67436	D	0.89801	0.64352	D	0.83755374	0.86434	0.83579093	0.90562	0.83755374	0.86436	0.83579093	0.90562	-13.803	0.92478	D	.	.	0.915	0.83817	P	.;.;.;.;.;.	.;.;.;.;.;.	5.948125	0.94152	33	0.9988098438978944	0.95733	0.97166	0.73078	D	AEFDGBHCI	0.946022	0.95501	D	0.641428984643706	0.75816	6.373162	0.605033197001249	0.75304	6.287037	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.4	4.4	0.52402	9.992000	0.99232	11.673000	0.94126	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	17.367	0.87255	923	0.18507	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	39.42	125	chr10	125003357	.	G	A	39.42	.	AC=2;AF=0.111;AN=18;BaseQRankSum=1.2;DP=817;ExcessHet=0.2348;FS=9.155;InbreedingCoeff=-0.1381;MLEAC=2;MLEAF=0.111;MQ=59.38;MQRankSum=-9.193;QD=0.22;ReadPosRankSum=-3.183;SOR=1.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,7:90:44:0|1:125003357_G_A:44,0,3444:125003357	7	0	2	1
chr10	125003368	125003368	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C387G:p.D129E,CTBP2:NM_022802:exon2:c.C1803G:p.D601E,CTBP2:NM_001321013:exon3:c.C183G:p.D61E,CTBP2:NM_001083914:exon4:c.C183G:p.D61E,CTBP2:NM_001290214:exon4:c.C183G:p.D61E,CTBP2:NM_001290215:exon4:c.C183G:p.D61E,CTBP2:NM_001321012:exon4:c.C183G:p.D61E,CTBP2:NM_001321014:exon4:c.C183G:p.D61E,CTBP2:NM_001329:exon4:c.C183G:p.D61E	.	430	852	239	1	0	241	0.123907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0278736828157	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.52492	D	0.035	0.76473	D	0.057	0.33445	B	0.084	0.45295	B	0.000001	0.84330	D	0.093937	0.998215	0.47795	D	1.255	0.31814	L	0.84	0.47477	T	-3.72	0.73151	D	0.731	0.74280	-0.8081	0.54665	T	0.168	0.50745	T	10	0.57244885	0.65394	D	0.027874	0.50634	D	0.229	0.52916	0.567	0.68901	0.742667268481	0.74035	0.9372575970872389	0.93705	0.839287628383	0.67962	0.822298943996	0.85381	D	0.532581	0.83851	D	-0.00859042	0.50463	T	-0.250116	0.49806	T	0.95814836025238	0.65193	D	0.816918	0.54045	T	0.61954224	0.73738	0.49464875	0.70773	0.61954224	0.73740	0.49464875	0.70773	-13.991	0.95421	D	.	.	0.998	0.97084	P	.;.;.;.;.;.	.;.;.;.;.;.	1.288935	0.16893	12.83	0.98899659867088185	0.48163	0.32479	0.24596	N	AEFDGBHCI	0.425946	0.49050	N	-0.575959099119209	0.19677	1.031687	-0.660887068078052	0.17942	0.9563054	0.999999886987385	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	-4.33	0.03423	-0.760000	0.04861	-7.833000	0.01078	0.662000	0.56354	0.017000	0.19353	0.000000	0.08366	0.996000	0.76049	0.7124:0.0:0.2876:0.0	14.997	0.71096	923	0.18507	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	.	.	.	.	.	.	.	.	0.125	68.67	132	chr10	125003368	.	G	C	68.67	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.671;DP=906;ExcessHet=0.2348;FS=2.453;InbreedingCoeff=-0.1714;MLEAC=2;MLEAF=0.125;MQ=59.37;MQRankSum=-9.3;QD=0.39;ReadPosRankSum=-2.399;SOR=1.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,8:89:72:0|1:125003357_G_A:72,0,3377:125003357	6	0	2	2
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17,CTBP2:NM_022802:exon2:c.1789delG:p.V597Wfs*17,CTBP2:NM_001321013:exon3:c.169delG:p.V57Wfs*17,CTBP2:NM_001083914:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290214:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290215:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321012:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321014:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001329:exon4:c.169delG:p.V57Wfs*17	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	255.6	126	chr10	125003381	.	AC	A	255.6	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.92;DP=975;ExcessHet=2.8389;FS=3.831;InbreedingCoeff=-0.3364;MLEAC=5;MLEAF=0.25;MQ=59.35;MQRankSum=-9.355;QD=0.51;ReadPosRankSum=-1.661;SOR=1.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,9:82:99:0|1:125003381_AC_A:158,0,3031:125003381	5	0	5	0
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V,CTBP2:NM_022802:exon2:c.C1723G:p.L575V,CTBP2:NM_001321013:exon3:c.C103G:p.L35V,CTBP2:NM_001083914:exon4:c.C103G:p.L35V,CTBP2:NM_001290214:exon4:c.C103G:p.L35V,CTBP2:NM_001290215:exon4:c.C103G:p.L35V,CTBP2:NM_001321012:exon4:c.C103G:p.L35V,CTBP2:NM_001321014:exon4:c.C103G:p.L35V,CTBP2:NM_001329:exon4:c.C103G:p.L35V	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	344.3	105	chr10	125003448	.	G	C	344.3	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-0.532;DP=844;ExcessHet=1.5895;FS=5.299;InbreedingCoeff=-0.3457;MLEAC=5;MLEAF=0.313;MQ=59.2;MQRankSum=-8.746;QD=0.96;ReadPosRankSum=0.877;SOR=0.96	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,8:76:99:0|1:125003425_G_C:131,0,2831:125003425	4	0	4	2
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L,CTBP2:NM_022802:exon2:c.C1721T:p.P574L,CTBP2:NM_001321013:exon3:c.C101T:p.P34L,CTBP2:NM_001083914:exon4:c.C101T:p.P34L,CTBP2:NM_001290214:exon4:c.C101T:p.P34L,CTBP2:NM_001290215:exon4:c.C101T:p.P34L,CTBP2:NM_001321012:exon4:c.C101T:p.P34L,CTBP2:NM_001321014:exon4:c.C101T:p.P34L,CTBP2:NM_001329:exon4:c.C101T:p.P34L	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	137.38	107	chr10	125003450	.	G	A	137.38	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.425;DP=840;ExcessHet=0.7463;FS=2.377;InbreedingCoeff=-0.243;MLEAC=3;MLEAF=0.188;MQ=59.31;MQRankSum=-8.802;QD=0.49;ReadPosRankSum=0.502;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,5:72:8:0|1:125003425_G_C:8,0,2798:125003425	5	0	3	2
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19,CTBP2:NM_022802:exon2:c.1717delC:p.R573Afs*19,CTBP2:NM_001321013:exon3:c.97delC:p.R33Afs*19,CTBP2:NM_001083914:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290214:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290215:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321012:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321014:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001329:exon4:c.97delC:p.R33Afs*19	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	145.77	106	chr10	125003453	.	CG	C	145.77	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.326;DP=826;ExcessHet=0.7463;FS=2.242;InbreedingCoeff=-0.1688;MLEAC=3;MLEAF=0.15;MQ=59.3;MQRankSum=-8.859;QD=0.54;ReadPosRankSum=0.366;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,5:72:8:0|1:125003425_G_C:8,0,2798:125003425	7	0	3	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N,CTBP2:NM_022802:exon2:c.C1711A:p.H571N,CTBP2:NM_001321013:exon3:c.C91A:p.H31N,CTBP2:NM_001083914:exon4:c.C91A:p.H31N,CTBP2:NM_001290214:exon4:c.C91A:p.H31N,CTBP2:NM_001290215:exon4:c.C91A:p.H31N,CTBP2:NM_001321012:exon4:c.C91A:p.H31N,CTBP2:NM_001321014:exon4:c.C91A:p.H31N,CTBP2:NM_001329:exon4:c.C91A:p.H31N	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	179.43	109	chr10	125003460	.	G	T	179.43	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-1.177;DP=817;ExcessHet=0.7463;FS=2.452;InbreedingCoeff=-0.2542;MLEAC=3;MLEAF=0.188;MQ=59.32;MQRankSum=-8.742;QD=0.68;ReadPosRankSum=-0.114;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,5:70:14:0|1:125003425_G_C:14,0,2714:125003425	5	0	3	2
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T,CTBP2:NM_022802:exon2:c.C1705A:p.P569T,CTBP2:NM_001321013:exon3:c.C85A:p.P29T,CTBP2:NM_001083914:exon4:c.C85A:p.P29T,CTBP2:NM_001290214:exon4:c.C85A:p.P29T,CTBP2:NM_001290215:exon4:c.C85A:p.P29T,CTBP2:NM_001321012:exon4:c.C85A:p.P29T,CTBP2:NM_001321014:exon4:c.C85A:p.P29T,CTBP2:NM_001329:exon4:c.C85A:p.P29T	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	200.64	99	chr10	125003466	.	G	T	200.64	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.217;DP=796;ExcessHet=0.7463;FS=2.468;InbreedingCoeff=-0.1633;MLEAC=2;MLEAF=0.1;MQ=59.31;MQRankSum=-8.566;QD=0.78;ReadPosRankSum=-0.838;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,5:73:5:0|1:125003425_G_C:5,0,2840:125003425	7	0	3	0
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V,CTBP2:NM_022802:exon2:c.G1703T:p.G568V,CTBP2:NM_001321013:exon3:c.G83T:p.G28V,CTBP2:NM_001083914:exon4:c.G83T:p.G28V,CTBP2:NM_001290214:exon4:c.G83T:p.G28V,CTBP2:NM_001290215:exon4:c.G83T:p.G28V,CTBP2:NM_001321012:exon4:c.G83T:p.G28V,CTBP2:NM_001321014:exon4:c.G83T:p.G28V,CTBP2:NM_001329:exon4:c.G83T:p.G28V	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	211.86	95	chr10	125003468	.	C	A	211.86	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.097;DP=787;ExcessHet=0.7463;FS=2.468;InbreedingCoeff=-0.1704;MLEAC=3;MLEAF=0.15;MQ=59.31;MQRankSum=-8.566;QD=0.84;ReadPosRankSum=-0.845;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,5:72:8:0|1:125003425_G_C:8,0,2773:125003425	7	0	3	0
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K,CTBP2:NM_022802:exon2:c.C1701A:p.N567K,CTBP2:NM_001321013:exon3:c.C81A:p.N27K,CTBP2:NM_001083914:exon4:c.C81A:p.N27K,CTBP2:NM_001290214:exon4:c.C81A:p.N27K,CTBP2:NM_001290215:exon4:c.C81A:p.N27K,CTBP2:NM_001321012:exon4:c.C81A:p.N27K,CTBP2:NM_001321014:exon4:c.C81A:p.N27K,CTBP2:NM_001329:exon4:c.C81A:p.N27K	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	231.14	94	chr10	125003470	.	G	T	231.14	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.22;DP=766;ExcessHet=0.7463;FS=1.074;InbreedingCoeff=-0.2698;MLEAC=3;MLEAF=0.188;MQ=59.28;MQRankSum=-8.275;QD=0.94;ReadPosRankSum=-0.743;SOR=0.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,5:70:14:0|1:125003425_G_C:14,0,2689:125003425	5	0	3	2
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	.	.	.	.	.	.	.	.	0.2	236.57	144	chr10	125039033	.	T	A	236.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.24;DP=898;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.76;MQRankSum=-11.94;QD=0.38;ReadPosRankSum=-0.451;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,12:155:73:0|1:125039033_T_A:73,0,5869:125039033	6	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	.	.	.	.	.	.	.	.	0.2	236.57	144	chr10	125039035	.	T	C	236.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.41;DP=890;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.74;MQRankSum=-11.94;QD=0.38;ReadPosRankSum=-0.442;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,12:155:73:0|1:125039033_T_A:73,0,5869:125039033	6	0	4	0
chr10	127878384	127878384	G	A	exonic	CLRN3	.	nonsynonymous SNV	CLRN3:NM_152311:exon3:c.C446T:p.A149V	.	.	.	.	.	.	.	.	.	.	.	3944818	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.214	0.043704810192	7.7e-05	.	7.414e-05	0	0	0.0001	0	2.997e-05	0	0.0004	6.47e-05	10	154602	rs150481499	5.609e-05	5.609e-05	5.309e-05	5.913e-05	0.0003	4.61e-05	4.236e-05	0.0002	0.0002	0	2.236e-05	3.826e-05	5.038e-05	0	0	4.406e-05	4.967e-05	0.0003	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.203	0.20154	T	0.174	0.30045	T	0.001	0.07471	B	0.001	0.04355	B	0.968563	0.08175	N	0.984034	0.616233	0.32665	D	-0.55	0.02420	N	-1.29	0.79475	T	-0.63	0.18459	N	0.022	0.00372	-0.9123	0.46569	T	0.228	0.59271	T	10	0.048254073	0.04250	T	0.043705	0.61120	D	0.214	0.50650	.	.	0.389596023526	0.38570	0.3346757016404029	0.33380	0.0521099391984	0.05734	0.315207511187	0.12695	T	0.005964	0.05402	T	-0.456806	0.01029	T	-0.597754	0.13001	T	0.0235850401652484	0.01093	T	0.646635	0.25786	T	0.029223142	0.02383	0.0542079	0.09279	0.029223142	0.02383	0.0542079	0.09279	-3.238	0.12951	T	.	.	0.080	0.07937	B	.	.	-0.110384	0.03581	0.696	0.93116627627700455	0.22751	0.05818	0.11757	N	AEFDBI	0.088952	0.18031	N	-1.0973095549778	0.06692	0.3088108	-1.04712445971095	0.08766	0.432656	0.998896641652108	0.37915	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.01	-3.13	0.04944	-0.287000	0.08423	-0.199000	0.10963	-0.179000	0.10443	0.702000	0.28645	0.000000	0.08366	0.274000	0.23868	0.6081:0.1888:0.2031:0.0	8.856	0.34386	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	.	.	.	.	.	.	.	.	0.05	1935.43	37	chr10	127878384	.	G	A	1935.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.365;DP=463;ExcessHet=0;FS=0.62;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.975;SOR=0.602	GT:AD:DP:GQ:PL	0/1:70,81:151:99:1947,0,1683	9	0	1	0
chr10	131970666	131970666	G	A	exonic	BNIP3	.	nonsynonymous SNV	BNIP3:NM_004052:exon5:c.C706T:p.L236F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.00838545504326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.191	0.43721	T	.	.	.	.	.	.	0.000120	0.50451	D	0.147023	0.999994	0.58761	D	.	.	.	.	.	.	.	.	.	0.602	0.62018	-0.2121	0.77359	T	0.400	0.75130	T	9	0.41379318	0.56404	T	0.008385	0.22181	T	0.238	0.54217	.	.	0.500994481783	0.49735	0.7413383291708545	0.74079	1.09635788658	0.77590	0.638146281242	0.58300	T	.	.	.	0.0403246	0.57090	T	-0.179853	0.56537	T	0.949204385280609	0.63062	D	0.939006	0.77019	D	0.1524084	0.34598	0.15168965	0.35721	0.1524084	0.34597	0.15168965	0.35720	-9.261	0.69362	D	.	.	0.42	0.60667	A	.;.	.;.	4.232503	0.64109	24.7	0.99833933437728273	0.91542	0.86824	0.46190	D	AEFDBCI	0.298286	0.40764	N	0.509261380632509	0.67634	5.108092	0.447473131187209	0.64554	4.713309	0.999388797983373	0.39415	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.3	4.3	0.50540	1.356000	0.33683	9.651000	0.81171	0.672000	0.70159	0.999000	0.42656	1.000000	0.68203	0.904000	0.43992	0.0:0.0:1.0:0.0	17.659	0.88088	955	0.09969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	727.57	37	chr10	131970666	.	G	A	727.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.948;DP=1168;ExcessHet=1.5895;FS=186.628;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=59.88;MQRankSum=0.679;QD=0.79;ReadPosRankSum=2.42;SOR=11.197	GT:AD:DP:GQ:PL	0/1:182,60:242:44:44,0,3264	6	0	4	0
chr10	132405138	132405138	G	A	exonic	PWWP2B	.	nonsynonymous SNV	PWWP2B:NM_001098637:exon2:c.G638A:p.R213H,PWWP2B:NM_138499:exon2:c.G638A:p.R213H	.	416	1103	3	0	0	3	0.00135808	.	.	.	2235964	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.0786612147463	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs746690563	9.555e-05	0.0001	8.216e-05	0.0001	0.0021	8.216e-05	7.672e-05	0.0011	0.0008	9.569e-05	2.809e-05	0	5.62e-05	0	0.0021	8.454e-05	0.0002	0.0002	3.286e-05	3.284e-05	2.57e-05	4.036e-05	4.411e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0.0064	4.411e-05	0	0	0.032	0.44694	D	0.095	0.48855	T	0.971	0.57185	D	0.374	0.43683	B	0.052232	0.02034	U	2.387200	1	0.08975	N	0.92	0.23413	L	0.39	0.57419	T	-2.04	0.46842	N	0.096	0.10340	-0.9535	0.40363	T	0.102	0.37568	T	10	0.12253016	0.23245	T	0.078661	0.73056	D	0.083	0.24192	0.162	0.06618	0.043077524339	0.03247	0.19073992677059629	0.18991	0.744720512614	0.63449	0.81004178524	0.83499	D	0.023981	0.18205	T	-0.296205	0.09023	T	-0.408209	0.32432	T	0.561259806156158	0.34902	D	0.435056	0.11905	T	0.048500348	0.08463	0.06017383	0.11416	0.048500348	0.08462	0.06017383	0.11416	-6.053	0.48453	T	.	.	0.093	0.13830	B	.;.	.;.	0.823500	0.11949	8.509	0.99807490237497609	0.89174	0.00733	0.03071	N	AEFDBHCI	0.026487	0.01998	N	-0.60035265571124	0.18934	0.9870239	-0.781849621112212	0.14939	0.7832674	0.999987088880472	0.51787	0.001892	0.00033	3	0.547309	0.14657	0	0.505578	0.09266	0	0.491896	0.07777	0	.	.	3.85	-1.85	0.07363	0.566000	0.23296	-0.572000	0.08421	-0.823000	0.02940	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.5964:0.1753:0.2283:0.0	5.128	0.14227	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	0.001075	0.000000	0.002899	0.003030	0.000000	0.000000	0.003268	0.000000	0.05	131.43	27	chr10	132405138	.	G	A	131.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.497;DP=214;ExcessHet=0;FS=7.782;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-0.936;SOR=0.598	GT:AD:DP:GQ:PL	0/1:4,5:9:99:143,0,108	9	0	1	0
chr10	132922556	132922556	G	T	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon12:c.C1409A:p.T470N	.	416	1065	39	2	0	43	0.0197883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	0.00978435	0.0177	0.0037	0.0146	0	0	0.0107	0.0195	0.0251	0.0033311	515	154602	rs41301115	0.0105	0.0100	0.0099	0.0111	0.0279	0.0103	0.0103	0.0269	0.0266	0.0013	0.0072	0.0096	5.598e-05	0.0070	0.0101	0.0101	0.0106	0.0279	0.0079	0.0079	0.0072	0.0087	0.0296	0.0076	0.0074	0.0256	0.0241	0.0015	0	0.0092	0.0104	0	0.0090	0.0068	0.0105	0.0066	0.0296	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.752325	0.09690	N	0.860345	1	0.08975	N	.	.	.	3.04	0.08810	T	1.45	0.00785	N	0.025	0.00485	-1.0095	0.27074	T	0.027	0.11441	T	7	0.0035613477	0.00064	T	.	.	.	0.029	0.06676	.	.	.	.	0.09840789490100733	0.09771	0.124680466888	0.14042	0.364000618458	0.19967	T	0.003978	0.03393	T	-0.770917	0.00013	T	-0.859196	0.00851	T	0.00565307856650111	0.00062	T	0.393561	0.09813	T	0.03946856	0.05456	0.04422583	0.05683	0.03946856	0.05456	0.04422583	0.05683	-4.835	0.34997	T	.	.	0.065	0.02038	B	.	.	-0.983138	0.00795	0.026	0.20066372410375613	0.00705	0.03741	0.09041	N	AEFDBI	0.044977	0.07303	N	-0.843404712010184	0.12212	0.593932	-0.952104417135243	0.10874	0.5505145	0.0965582444146482	0.16256	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.28	-0.649	0.10885	-0.188000	0.09638	-1.355000	0.05637	-0.854000	0.02687	0.027000	0.20232	0.000000	0.08366	0.001000	0.02609	0.0:0.1079:0.5276:0.3645	6.353	0.20592	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	.	.	.	.	.	.	.	.	0.15	3498.43	34	chr10	132922556	.	G	T	3498.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.34;DP=650;ExcessHet=0;FS=1.351;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=19.44;ReadPosRankSum=-0.672;SOR=0.556	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2304,249,0	8	1	1	0
chr11	308267	308267	G	C	exonic	IFITM2	.	nonsynonymous SNV	IFITM2:NM_006435:exon1:c.G75C:p.E25D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0188847868063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.33254	T	0.118	0.36233	T	0.108	0.26116	B	0.109	0.31370	B	0.872675	0.08814	U	0.920283	1	0.08975	N	1.895	0.50365	L	-1.43	0.80730	T	-2.6	0.57110	D	0.15	0.20660	-0.6790	0.61419	T	0.360	0.72193	T	10	0.071273714	0.10482	T	0.018885	0.41097	T	0.082	0.23913	0.376	0.38994	0.440288351245	0.43647	0.2558530408082848	0.25499	0.300255646818	0.32383	0.381394267082	0.22455	T	0.026652	0.36845	T	-0.12688	0.32003	T	-0.420031	0.31073	T	0.23234649002552	0.22063	T	0.607039	0.22875	T	0.0935783	0.21981	0.08757858	0.20366	0.0935783	0.21981	0.08757858	0.20365	-4.318	0.28428	T	.	.	0.138	0.30022	B	.;.;.;.	.;.;.;.	0.367461	0.07401	4.025	0.9499493894408757	0.25950	0.36854	0.25629	N	ALL	0.444136	0.50115	N	-1.13907668690617	0.05962	0.2731987	-1.26894648263576	0.04856	0.2300885	0.999999999991353	0.74766	0.545045	0.22601	0	0.52208	0.09955	0	0.601644	0.32324	0	0.56214	0.19341	0	.	.	2.07	0.104	0.13836	-1.140000	0.03321	-2.314000	0.03912	-0.211000	0.08354	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3557:0.0:0.6443:0.0	4.483	0.11188	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	.	.	.	.	.	.	.	.	0.05	1430.43	33	chr11	308267	.	G	C	1430.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.124;DP=550;ExcessHet=0;FS=6.27;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.22;MQRankSum=-0.698;QD=13.24;ReadPosRankSum=1.28;SOR=1.352	GT:AD:DP:GQ:PL	0/1:49,59:108:99:1442,0,1174	9	0	1	0
chr11	551741	551741	C	T	exonic	LRRC56	.	nonsynonymous SNV	LRRC56:NM_198075:exon10:c.C887T:p.S296F	.	412	1059	49	2	0	53	0.0244127	.	.	.	1566203	LRRC56-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.104	.	0.0025	0.00878594	0.0071	0.0007	0.0025	0.0004	0.0005	0.0040	0.0162	0.0334	0.0065846	1018	154602	rs139348192	0.0056	0.0057	0.0049	0.0065	0.0340	0.0055	0.0055	0.0330	0.0326	0.0007	0.0020	0.0049	0.0002	0.0006	0.0142	0.0041	0.0064	0.0340	0.0039	0.0039	0.0038	0.0039	0.0342	0.0036	0.0035	0.0299	0.0283	0.0008	0	0.0022	0.0052	0	0.0002	0.0068	0.0048	0.0043	0.0342	0.004	0.65419	D	0.031	0.53788	D	0.989	0.62824	D	0.809	0.58564	P	0.020131	0.27106	N	0.349867	0.999995	0.08975	N	2.665	0.77964	M	2.62	0.12988	T	-2.4	0.52776	N	0.461	0.49783	-1.1131	0.02817	T	0.046	0.19680	T	10	0.0036670566	0.00067	T	.	.	.	0.104	0.29647	.	.	0.376921832658	0.37306	0.40103892264460156	0.40018	.	.	0.481672912836	0.36288	T	0.012776	0.11168	T	-0.475094	0.00791	T	-0.430841	0.29840	T	0.0282370238378752	0.01722	T	0.677032	0.28590	T	0.10101317	0.23857	0.13709292	0.32779	0.10101317	0.23857	0.13709292	0.32778	-5.382	0.40746	T	0.7726946834992914	0.85352	0.153	0.33913	B	.	.	3.203815	0.43583	21.8	0.99637721640869203	0.76449	0.37578	0.25793	N	AEFDGBHCI	0.138923	0.26037	N	0.110799777074831	0.46966	2.929038	0.0309368537939218	0.41158	2.468169	0.999999974760928	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.14	4.14	0.47821	2.008000	0.40513	5.577000	0.48958	0.599000	0.40250	0.007000	0.17678	0.960000	0.29291	0.005000	0.06747	0.0:1.0:0.0:0.0	11.786	0.51314	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	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	0.014099	0.000000	0.008174	0.005917	0.050000	0.000000	0.033537	0.022727	0.15	5988.45	159	chr11	551741	.	C	T	5988.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.556;DP=603;ExcessHet=0.7463;FS=0.384;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=0.096;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,38:82:99:0|1:551741_C_T:1387,0,1668:551741	7	0	3	0
chr11	613470	613470	C	T	exonic	IRF7	.	nonsynonymous SNV	IRF7:NM_004029:exon8:c.G886A:p.D296N,IRF7:NM_004031:exon8:c.G1012A:p.D338N,IRF7:NM_001572:exon9:c.G973A:p.D325N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0154642245647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.49613	D	0.184	0.37730	T	0.425	0.45171	B	0.233	0.38470	B	0.373659	0.04377	N	1.565040	1	0.08975	N	0.295	0.10161	N	1.0	0.41392	T	-1.06	0.29933	N	0.107	0.10340	-1.0492	0.14621	T	0.051	0.21611	T	10	0.10546523	0.19496	T	0.015464	0.36203	T	0.057	0.16321	0.315	0.29096	0.499154427049	0.49551	0.24527082708530024	0.24441	0.156186113274	0.17630	0.344814538956	0.17155	T	0.437957	0.78379	T	-0.347663	0.04875	T	-0.737171	0.04010	T	0.107886155372898	0.13202	T	0.877512	0.59164	D	0.10419964	0.24632	0.03765046	0.03462	0.10419964	0.24631	0.03765046	0.03462	-5.036	0.37939	T	.	.	0.104	0.30103	B	.;.;.;.;.;.	.;.;.;.;.;.	2.253097	0.28784	17.91	0.98674358682123442	0.44525	0.35890	0.25406	N	ALL	0.104671	0.20936	N	-0.906378797341769	0.10691	0.5121756	-0.918258346013541	0.11664	0.5955826	0.999999919777658	0.74766	0.741868	0.97996	0	0.672317	0.65289	0	0.774882	0.98623	0	0.662433	0.64102	0	.	.	4.05	3.11	0.34883	-0.582000	0.05907	2.254000	0.31710	0.524000	0.24156	0.000000	0.06391	0.013000	0.20296	0.004000	0.06068	0.0:0.729:0.1772:0.0938	7.046	0.24223	923	0.18507	Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;.;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-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	.	.	.	.	.	.	.	.	0.05	1320.43	39	chr11	613470	.	C	T	1320.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.505;DP=452;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-1.395;SOR=0.726	GT:AD:DP:GQ:PL	0/1:53,56:109:99:1332,0,1254	9	0	1	0
chr11	1017475	1017475	T	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.A5326C:p.T1776P	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0131	0.0110	0.0073	0.0102	0.0092	0.0120	0.0094	0.0280	.	.	.	rs767120670	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0052	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.023	0.48186	D	0.022	0.57587	D	0.967	0.56408	D	0.915	0.65091	D	.	.	.	.	1	0.08975	N	1.965	0.53209	M	1.92	0.23082	T	-0.7	0.19933	N	0.032	0.00825	-1.0346	0.18983	T	0.084	0.32729	T	9	0.0030392706	0.00050	T	.	.	.	0.035	0.08770	.	.	.	.	0.12709291837497497	0.12635	0.286751042776	0.31065	0.161724865437	0.00012	T	0.014035	0.12025	T	-0.171226	0.25050	T	-0.483731	0.24051	T	0.165187418460846	0.18247	T	.	.	.	0.07586503	0.17121	0.10278301	0.24644	0.07586503	0.17121	0.10278301	0.24643	-7.784	0.59588	D	.	.	0.075	0.05317	B	.	.	1.345915	0.17528	13.22	0.86401350992746828	0.16511	0.09225	0.15024	N	AEFDGBHCI	0.087222	0.17685	N	-0.554133786201835	0.20354	1.072371	-0.848067051572066	0.13334	0.6911499	0.999988853852363	0.51787	0.004792	0.00041	3	0.008208	0.00037	3	0.634913	0.45138	1	0.387032	0.06801	2	.	.	2.33	-1.4	0.08499	-0.249000	0.08861	-3.059000	0.03098	-1.265000	0.01286	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1901:0.2576:0.0:0.5523	2.878	0.05292	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	.	.	.	.	.	.	.	.	0.05	141.74	751	chr11	1017475	.	T	G	141.74	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.75;DP=6320;ExcessHet=0.7463;FS=3.013;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=56.57;MQRankSum=-4.029;QD=0.08;ReadPosRankSum=5.58;SOR=1.044	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:577,45:622:99:.:.:153,0,24093:.	9	0	1	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	.	.	.	.	.	.	.	.	0.35	5261.36	292	chr11	1018290	.	G	A	5261.36	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.14;DP=2815;ExcessHet=15.1594;FS=18.65;InbreedingCoeff=-0.8182;MLEAC=7;MLEAF=0.35;MQ=55.31;MQRankSum=-9.462;QD=2.02;ReadPosRankSum=0.915;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:286,39:354:99:.:.:777,0,11892:.	3	0	7	0
chr11	1085182	1085182	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0470070870377	0.0004	0.000599042	0.0008	0	0.0003	0	0	0.0009	0.0012	0.0017	0.0006274	97	154602	rs375576703	0.0009	0.0009	0.0009	0.0010	0.0020	0.0009	0.0009	0.0017	0.0016	0.0001	0	3.828e-05	7.557e-05	0.0005	0.0007	0.0010	0.0011	0.0020	0.0005	0.0005	0.0006	0.0005	0.0017	0.0004	0.0004	0.0008	0.0006	0.0002	0	6.532e-05	0	0	0.0004	0	0.0009	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005882	0.000000	0.000000	0.000000	0.003817	0.1	3130.14	36	chr11	1085182	.	C	T	3130.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.265;DP=600;ExcessHet=0.2348;FS=2.552;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=1.13;SOR=0.627	GT:AD:DP:GQ:PL	0/1:64,70:134:99:1602,0,1375	8	0	2	0
chr11	1096606	1096606	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	563	945	12	0	2	14	0.00630915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1222095683	0.0067	0.0063	0.0067	0.0066	0.0077	0.0066	0.0065	0.0076	0.0075	0.0010	0.0023	0.0046	0.0003	0.0011	0.0074	0.0077	0.0049	0.0040	0.0041	0.0052	0.0042	0.0040	0.0066	0.0037	0.0036	0.0060	0.0057	0.0011	0.0017	0.0032	0.0044	0.0015	0.0009	0.0072	0.0066	0.0015	0.0030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1808.43	115	chr11	1096606	.	C	T	1808.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=1222;ExcessHet=0;FS=1.318;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.41;MQRankSum=0.519;QD=10.76;ReadPosRankSum=-1.952;SOR=0.572	GT:AD:DP:GQ:PL	0/1:87,81:168:99:1820,0,1899	9	0	1	0
chr11	1096743	1096743	T	0	exonic	MUC2	.	.	.	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	44.41	21	chr11	1096743	.	T	*	44.41	.	AC=1;AF=0.125;AN=8;BaseQRankSum=1.96;DP=294;ExcessHet=0.2348;FS=25.21;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.25;MQ=51.86;MQRankSum=-2.738;QD=0.87;ReadPosRankSum=-1.425;SOR=3.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,3:27:45:0|1:1096735_G_A:45,0,999:1096735	3	0	1	6
chr11	1097563	1097563	G	A	exonic	MUC2	.	unknown	UNKNOWN	.	650	853	10	3	6	22	0.00929152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283237635	0.0067	0.0062	0.0063	0.0072	0.0186	0.0066	0.0065	0.0153	0.0140	0.0012	0.0033	0.0108	0.0003	0.0068	0.0186	0.0074	0.0061	0.0043	0.0032	0.0046	0.0031	0.0033	0.0055	0.0028	0.0026	0.0047	0.0044	0.0008	0.0049	0.0023	0.0065	0.0004	0.0014	0	0.0055	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	.	.	.	.	.	.	.	.	0.05556	2029.19	24	chr11	1097563	.	G	A	2029.19	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.18;DP=1708;ExcessHet=0.2348;FS=1.336;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.056;MQ=54.01;MQRankSum=2.25;QD=5.44;ReadPosRankSum=0.903;SOR=0.611	GT:AD:DP:GQ:PL	0/1:151,98:249:99:2040,0,4254	8	0	1	1
chr11	1097584	1097584	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	640	870	3	3	6	15	0.0051458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409182406	0.0007	0.0023	0.0006	0.0007	0.0014	0.0006	0.0006	0.0010	0.0009	0.0014	0.0009	0.0007	0.0011	0.0021	0.0003	0.0006	0.0007	0.0009	0.0004	0.0014	0.0002	0.0005	0.0016	0.0002	0.0001	0.0001	6.105e-05	0.0004	0	0.0004	0.0015	0	0.0008	0	0.0002	0	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1097.9	48	chr11	1097584	.	C	T	1097.9	.	AC=2;AF=0.25;AN=8;BaseQRankSum=3.8;DP=1813;ExcessHet=0.2348;FS=1.703;InbreedingCoeff=-0.3319;MLEAC=3;MLEAF=0.375;MQ=54.37;MQRankSum=-4.057;QD=2.68;ReadPosRankSum=2.64;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:220,52:272:99:.:.:1087,0,8281:.	2	0	2	6
chr11	1097805	1097805	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	683	827	12	0	0	12	0.00720288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.083e-05	0.0006	4.152e-05	2.074e-05	9.699e-05	2.144e-05	1.822e-05	2.385e-05	1.288e-05	9.699e-05	9e-05	9.62e-05	6.337e-05	0	0	2.691e-05	0	1.488e-05	4.208e-05	0.0002	4.311e-05	4.11e-05	0.0002	6.98e-06	2.61e-06	3.316e-05	1.363e-05	0.0002	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	.	.	.	.	.	.	.	.	0.15	303.45	69	chr11	1097805	.	C	A	303.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.576;DP=903;ExcessHet=0.7463;FS=33.983;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=35.9;MQRankSum=0.114;QD=1.21;ReadPosRankSum=-0.617;SOR=4.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,10:87:99:0|1:1097750_G_A:183,0,3115:1097750	7	0	3	0
chr11	1630364	1630368	AGTCC	0	exonic	KRTAP5-5	.	.	.	.	439	687	51	4	341	400	0.0411724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4786.48	40	chr11	1630364	.	AGTCC	*	4786.48	.	AC=6;AF=0.3;AN=20;DP=1478;ExcessHet=0.3701;FS=2.566;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=57.54;QD=4.74;SOR=0.928	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,58:131:99:0|1:1630310_C_G:5245,2910,2839:1630310	4	0	6	0
chr11	1630369	1630395	AGCTGCTGTAAGCCTTACTGCTGCCAG	0	exonic	KRTAP5-5	.	.	.	.	437	689	51	4	341	400	0.0410578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4769.48	40	chr11	1630369	.	AGCTGCTGTAAGCCTTACTGCTGCCAG	*	4769.48	.	AC=6;AF=0.3;AN=20;DP=1478;ExcessHet=0.3701;FS=1.818;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=57.7;QD=4.76;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,67:140:99:0|1:1630310_C_G:5460,2910,2852:1630310	4	0	6	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	17335.9	40	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	17335.9	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.85;DP=1824;ExcessHet=0.6204;FS=1.237;InbreedingCoeff=0.0476;MLEAC=8;MLEAF=0.4;MQ=59.01;MQRankSum=-4.506;QD=12.68;ReadPosRankSum=0.914;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,67:140:58:1|1:1630310_C_G:2608,58,0:1630310	4	2	4	0
chr11	2412827	2412827	G	A	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon15:c.C2282T:p.P761L	.	417	1100	4	1	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.446	0.749002440507	.	.	0.0005	0	0.0004	0	0	0.0001	0.0039	0.0024	0.0002652	41	154602	rs556364904	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	2.315e-05	0	0	0	0.0009	4.332e-05	0.0006	0.0028	0.0001	0.0001	6.423e-05	0.0002	0.0025	8.656e-05	7.249e-05	0.0014	0.0011	4.81e-05	0	0.0002	0	0	0	0	1.47e-05	0.0009	0.0025	0.002	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.075	0.87202	M	-0.64	0.72125	T	-5.09	0.82961	D	0.624	0.63968	0.139	0.84859	D	0.544	0.83213	D	10	0.038475126	0.02268	T	0.749002	0.97997	D	0.446	0.74797	0.37	0.38013	0.684252380218	0.68155	0.42957882695739485	0.42874	0.485256337644	0.47413	0.573685884476	0.49198	T	0.874578	0.97319	D	-0.268523	0.11922	T	-0.160912	0.58270	T	0.240165501650694	0.22427	T	0.855714	0.54342	D	0.42356393	0.62328	0.45104125	0.68058	0.42356393	0.62328	0.45104125	0.68058	-7.171	0.55273	T	.	.	0.161	0.35622	B	.;.;.;.	.;.;.;.	4.292572	0.65474	24.8	0.99743570604385356	0.83703	0.93110	0.57353	D	AEFBCI	0.900852	0.84686	D	0.376473054716891	0.60149	4.200827	0.170469501196412	0.48236	3.042339	0.999874878828382	0.44625	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.28	3.36	0.37579	7.548000	0.81103	8.271000	0.76889	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.554000	0.30269	0.0912:0.0:0.9088:0.0	11.290	0.48477	988	0.01987	Ion transport domain;Ion transport domain;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	0.001011	0.000000	0.002732	0.000000	0.000000	0.000000	0.000000	0.000000	0.15	3483.45	33	chr11	2412827	.	G	A	3483.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.261;DP=527;ExcessHet=0.7463;FS=1.474;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.936;SOR=0.604	GT:AD:DP:GQ:PL	0/1:36,47:83:99:1136,0,917	7	0	3	0
chr11	4653052	4653052	A	G	exonic	OR51E1	.	nonsynonymous SNV	OR51E1:NM_152430:exon2:c.A526G:p.I176V	.	433	995	91	3	0	97	0.0464782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	0.0028	0.0115815	0.0098	0.0006	0.0034	0	0.0002	0.0041	0.0100	0.0547	0.0085704	1325	154602	rs61746313	0.0051	0.0051	0.0035	0.0068	0.0518	0.0050	0.0050	0.0505	0.0500	0.0005	0.0027	0.0085	0.0002	5.617e-05	0.0307	0.0019	0.0070	0.0518	0.0039	0.0039	0.0032	0.0046	0.0496	0.0036	0.0035	0.0445	0.0425	0.0005	0.0011	0.0058	0.0086	0.0004	0.0003	0.0136	0.0028	0.0057	0.0496	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.140478	0.18308	N	0.501168	1	0.08975	N	.	.	.	1.29	0.35775	T	0.38	0.03579	N	0.023	0.00407	-0.9871	0.33323	T	0.033	0.14029	T	10	0.001768142	0.00023	T	.	.	.	0.095	0.27398	.	.	0.0297737177859	0.01360	0.12332486038305565	0.12258	0.105741972977	0.11956	0.271344333887	0.06317	T	.	.	.	-0.722216	0.00027	T	-0.770713	0.02744	T	0.00988813361863609	0.00131	T	0.357364	0.08134	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02894	B	.	.	0.262711	0.06410	2.879	0.16601044500135223	0.00451	0.05363	0.11223	N	AEFBI	0.114271	0.22514	N	-1.06097716116596	0.07374	0.3423423	-0.968385012516924	0.10500	0.5292187	0.00349446597818093	0.10145	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	3.87	0.43823	-0.128000	0.10508	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.739000	0.35404	0.7307:0.0:0.2692:0.0	5.953	0.18491	814	0.42100	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	0.019134	0.000000	0.009511	0.014620	0.000000	0.008621	0.033537	0.045455	0.15	7130.45	125	chr11	4653052	.	A	G	7130.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.26;DP=1515;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.512;SOR=0.705	GT:AD:DP:GQ:PL	0/1:97,111:208:99:2793,0,2293	7	0	3	0
chr11	4923931	4923931	C	T	exonic	OR51G1	.	nonsynonymous SNV	OR51G1:NM_001005237:exon1:c.G409A:p.V137I	.	415	1090	17	0	0	17	0.00773782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0032	0.00379393	0.0027	0.0081	0.0016	0.0002	0	0.0002	0.0066	0.0122	0.0023997	371	154602	rs145607331	0.0011	0.0011	0.0008	0.0015	0.0119	0.0011	0.0011	0.0113	0.0111	0.0072	0.0015	0.0004	5.039e-05	0	0.0036	0.0002	0.0021	0.0119	0.0033	0.0033	0.0033	0.0033	0.0119	0.0031	0.0030	0.0094	0.0085	0.0093	0	0.0026	0	0	0	0	0.0002	0.0024	0.0119	.	.	.	.	.	.	0.002	0.09854	B	0.001	0.04355	B	0.200551	0.16611	N	0.437363	0.970807	0.25685	N	-1.29	0.00724	N	.	.	.	.	.	.	.	.	-1.0038	0.28814	T	0.006	0.01907	T	10	0.011270016	0.00247	T	.	.	.	.	.	.	.	.	.	0.12785814721803207	0.12710	.	.	0.21312341094	0.00951	T	2.86E-4	0.00069	T	-0.787337	0.00010	T	-0.893344	0.00550	T	0.00573077374390745	0.00063	T	0.354964	0.08031	T	0.01774362	0.00299	0.03550361	0.02815	0.01774362	0.00299	0.03550361	0.02815	-1.032	0.01035	T	.	.	0.069	0.03128	B	.	.	-1.391376	0.00366	0.007	0.53104431938590912	0.04875	0.01281	0.04472	N	AEFGBI	0.037579	0.05190	N	-2.35276002061783	0.00035	0.001487029	-2.32492563772922	0.00058	0.002563659	0.352579824946261	0.19697	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.2	-8.41	0.00840	-2.223000	0.01297	.	.	-2.793000	0.00187	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1062:0.0998:0.794	12.105	0.53106	744	0.52588	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	0.005539	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.026515	0.1	4089.14	33	chr11	4923931	.	C	T	4089.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.382;DP=897;ExcessHet=0.2348;FS=0.846;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=1.02;SOR=0.766	GT:AD:DP:GQ:PL	0/1:64,79:143:99:1895,0,1396	8	0	2	0
chr11	5856952	5856952	C	T	exonic	OR52E8	.	nonsynonymous SNV	OR52E8:NM_001005168:exon1:c.G751A:p.G251S	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00866060324559	.	.	6.708e-05	0	8.754e-05	0	0	3.021e-05	0	0.0003	5.17e-05	8	154602	rs772802955	2.883e-05	2.874e-05	2.185e-05	3.587e-05	0.0009	2.159e-05	1.914e-05	0.0003	0.0002	0	0	0	0	0	0.0009	9.906e-06	6.656e-05	0.0003	2.035e-05	1.994e-05	0	4.17e-05	0.0002	5.41e-06	2.5e-06	.	.	0	0	6.656e-05	0	0	0	0	1.474e-05	0	0.0002	0.038	0.42783	D	0.081	0.41742	T	0.005	0.12996	B	0.014	0.16862	B	0.024598	0.26236	N	0.325195	1	0.08975	N	0.395	0.12235	N	1.23	0.36872	T	0.53	0.02808	N	0.084	0.06059	-1.0503	0.14313	T	0.048	0.20315	T	10	0.06550974	0.08850	T	0.008661	0.22878	T	0.030	0.07022	0.467	0.53891	0.110078149338	0.10416	0.20002347685955305	0.19919	0.00297416347978	0.00257	0.182556480169	0.00120	T	9.78E-4	0.00517	T	-0.478074	0.00759	T	-0.622775	0.10968	T	0.368437200784683	0.27737	T	0.752925	0.37500	T	0.07274225	0.16204	0.06896744	0.14471	0.07274225	0.16203	0.06896744	0.14471	-2.499	0.05774	T	.	.	0.097	0.15921	B	.	.	-0.294018	0.02643	0.335	0.92745811466875849	0.22251	0.10795	0.16198	N	AEFI	0.151546	0.27605	N	-0.867087704025955	0.11632	0.5623966	-0.866059856647842	0.12902	0.6663626	1.66652266131376E-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	-0.0605	0.13120	-2.678000	0.00911	.	.	-0.199000	0.08999	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3355:0.4878:0.0:0.1767	5.157	0.14369	737	0.53483	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	0.000505	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	2154.14	34	chr11	5856952	.	C	T	2154.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.45;DP=496;ExcessHet=0.2348;FS=1.156;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.069;SOR=0.572	GT:AD:DP:GQ:PL	0/1:59,45:104:99:1182,0,1491	8	0	2	0
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	.	.	.	.	.	.	.	.	0.05	133.43	36	chr11	6200107	.	C	G	133.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.454;DP=699;ExcessHet=0;FS=87.112;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=1.57;SOR=5.992	GT:AD:DP:GQ:PL	0/1:104,11:123:99:145,0,3988	9	0	1	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	.	.	.	.	.	.	.	.	0.05	206.43	36	chr11	6200109	.	C	G	206.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.956;DP=621;ExcessHet=0;FS=94.95;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.65;ReadPosRankSum=2.21;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,21:125:99:0|1:6200108_C_G:218,0,3984:6200108	9	0	1	0
chr11	6557411	6557411	C	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon25:c.C8116A:p.P2706T	.	322	1166	29	5	0	39	0.0164488	.	.	.	701888	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.149	.	0.0035	0.00199681	0.0052	0.0010	0.0052	0	0.0109	0.0061	0.0053	0.0057	0.0016041	248	154602	rs192678564	0.0043	0.0042	0.0042	0.0044	0.0056	0.0042	0.0042	0.0052	0.0050	0.0008	0.0033	0.0089	0	0.0027	0.0053	0.0045	0.0039	0.0056	0.0033	0.0033	0.0035	0.0030	0.0050	0.0030	0.0030	0.0045	0.0043	0.0010	0	0.0033	0.0060	0	0.0019	0.0102	0.0049	0.0033	0.0050	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.748186	0.33898	D	1.975	0.53506	M	1.2	0.37405	T	-2.05	0.47008	N	0.139	0.14905	-0.8769	0.50005	T	0.083	0.32700	T	9	0.0074189305	0.00169	T	.	.	.	0.149	0.39377	.	.	0.471292358255	0.46759	0.1847132401032464	0.18389	0.56369228266	0.52792	0.417725682259	0.27524	T	0.007957	0.07329	T	-0.419871	0.01713	T	-0.374249	0.36393	T	0.0172735814394521	0.00468	T	0.458654	0.13238	T	0.1698434	0.37524	0.23968908	0.49325	0.1698434	0.37524	0.23968908	0.49324	-3.654	0.18641	T	.	.	0.230	0.46238	B	.;.	.;.	1.907854	0.24231	16.32	0.99451365453118268	0.65274	0.96239	0.68176	D	AEFDBI	0.183617	0.31094	N	0.325248348728929	0.57448	3.912109	0.360639371663606	0.59152	4.090616	0.999999994108912	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.16	5.16	0.70563	1.685000	0.37277	1.784000	0.28742	0.599000	0.40250	0.541000	0.27275	0.453000	0.24963	0.208000	0.22126	0.0:1.0:0.0:0.0	17.652	0.88071	464	0.78488	.;.	.	.	.	.	.	Likely benign	0	0	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	0.007888	0.000000	0.012963	0.000000	0.000000	0.000000	0.017123	0.013636	0.1	3693.14	106	chr11	6557411	.	C	A	3693.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.461;DP=725;ExcessHet=0.2348;FS=0.998;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=-1.319;SOR=0.776	GT:AD:DP:GQ:PL	0/1:45,73:118:99:2030,0,1123	8	0	2	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	.	.	.	.	.	.	.	.	0.25	281.74	73	chr11	10559867	.	G	A	281.74	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-3.365;DP=886;ExcessHet=1.5895;FS=223.429;InbreedingCoeff=-0.333;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=0.159;SOR=9.766	GT:AD:DP:GQ:PL	0/1:91,31:122:22:22,0,1567	4	0	4	2
chr11	10773236	10773236	C	G	exonic	CTR9	.	nonsynonymous SNV	CTR9:NM_001346279:exon20:c.C2618G:p.A873G,CTR9:NM_014633:exon21:c.C2690G:p.A897G	.	.	.	.	.	.	.	.	.	.	.	3050624	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.00240834594333	.	.	2.472e-05	0	8.652e-05	0	0	2.998e-05	0	0	1.94e-05	3	154602	rs763337986	2.259e-05	2.257e-05	2.179e-05	2.339e-05	6.977e-05	1.611e-05	1.417e-05	3.003e-05	2.043e-05	0	2.252e-05	0.0006	0	0	0	7.196e-06	3.313e-05	6.977e-05	3.285e-05	3.282e-05	2.571e-05	4.031e-05	.	1.261e-05	7.98e-06	.	.	0	0	0	0.0009	0	0	0	0	0.0009	0	0.389	0.10874	T	0.387	0.15650	T	0.0	0.02946	B	0.0	0.01387	B	0.002518	0.36425	N	0.309442	0.839081	0.28656	N	1.04	0.26193	L	0.81	0.48460	T	-1.6	0.38540	N	0.114	0.10198	-1.0540	0.13305	T	0.090	0.34491	T	10	0.03435436	0.01641	T	0.002408	0.04729	T	0.086	0.25016	0.119	0.02647	0.373580267183	0.36973	0.04003373297517994	0.03949	1.02953252697	0.75381	0.494958221912	0.38126	T	0.105661	0.41632	T	-0.396863	0.02428	T	-0.631996	0.10263	T	0.106911368668079	0.13100	T	0.760024	0.38453	T	0.1287514	0.30091	0.14093317	0.33577	0.1287514	0.30091	0.14093317	0.33576	-3.094	0.11227	T	.	.	0.084	0.09627	B	.	.	2.940658	0.39102	20.9	0.98910669769146797	0.48363	0.86701	0.46038	D	AEFBI	0.212009	0.33774	N	-0.0989562786846915	0.37437	2.178104	0.123992395968911	0.45779	2.835063	0.221493879505653	0.18360	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	5.01	0.66477	2.657000	0.46389	4.259000	0.42796	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.7756:0.2244:0.0	15.192	0.72739	706	0.57215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	126.43	35	chr11	10773236	.	C	G	126.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.677;DP=342;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.72;ReadPosRankSum=-0.859;SOR=0.807	GT:AD:DP:GQ:PL	0/1:25,9:34:99:138,0,605	9	0	1	0
chr11	13010508	13010508	C	A	exonic	RASSF10	.	nonsynonymous SNV	RASSF10:NM_001080521:exon1:c.C932A:p.A311D	.	340	1165	16	1	0	18	0.0076661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.00419329	0.0082	0	0.0112	0	0.0045	0.0146	0	0.0051	0.0018305	283	154602	rs200457508	0.0064	0.0062	0.0065	0.0064	0.0073	0.0063	0.0063	0.0072	0.0071	0.0012	0.0030	0.0103	0	0.0024	0.0067	0.0073	0.0062	0.0017	0.0042	0.0042	0.0046	0.0037	0.0067	0.0039	0.0038	0.0062	0.0060	0.0014	0.0033	0.0036	0.0072	0	0.0017	0.0137	0.0067	0.0043	0.0017	.	.	.	0.627	0.07267	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	-1.5	0.00507	N	.	.	.	.	.	.	0.129	0.12341	.	.	.	.	.	.	.	0.005890757	0.00132	T	.	.	.	.	.	.	.	0.17948927462	0.17512	0.19620850095321724	0.19537	.	.	0.728413641453	0.71275	T	0.011056	0.09913	T	-0.45404	0.01069	T	-0.419847	0.31093	T	.	.	.	0.305069	0.05837	T	0.19861113	0.41770	0.29247585	0.55275	0.19861113	0.41770	0.29247585	0.55274	-3.397	0.15016	T	.	.	0.057	0.00604	B	.	.	1.401140	0.18154	13.58	0.84258461742934376	0.15187	0.06341	0.12339	N	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.99999994688726	0.74766	0.095506	0.02484	0	0.085267	0.02369	0	0.183864	0.04481	0	0.109499	0.03221	0	0.127789	0.25488	5.06	2.67	0.30756	3.014000	0.49278	7.021000	0.57267	-0.062000	0.16622	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.6881:0.3119:0.0:0.0	10.507	0.44026	898	0.25240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007206	0.005556	0.006270	0.000000	0.000000	0.009434	0.019868	0.004065	0.1	2040.14	33	chr11	13010508	.	C	A	2040.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.678;DP=464;ExcessHet=0.2348;FS=7.592;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=0.784;SOR=0.83	GT:AD:DP:GQ:PL	0/1:34,38:72:99:933,0,930	8	0	2	0
chr11	18266930	18266930	G	A	exonic	SAA1	.	nonsynonymous SNV	SAA1:NM_000331:exon2:c.G43A:p.G15S,SAA1:NM_199161:exon2:c.G43A:p.G15S,SAA1:NM_001178006:exon3:c.G43A:p.G15S	.	423	1096	1	2	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00108374847703	.	.	.	.	.	.	.	.	.	.	0.0001617	25	154602	rs1232745554	4.381e-05	0.0002	3.542e-05	5.229e-05	0.0002	3.511e-05	3.195e-05	9.769e-05	7.075e-05	0.0002	2.24e-05	0	0.0002	1.873e-05	0.0002	2.789e-05	4.973e-05	0.0002	0.0001	0.0004	0.0001	8.171e-05	0.0003	7.171e-05	5.913e-05	0.0002	0.0001	0.0003	0	6.668e-05	0	0.0002	0	0	4.43e-05	0	0	0.069	0.35537	T	0.26	0.23029	T	.	.	.	.	.	.	0.017200	0.27786	N	0.327305	1	0.08975	N	.	.	.	2.99	0.09262	T	-2.26	0.50502	N	0.184	0.19995	-1.0281	0.21070	T	0.037	0.15770	T	10	0.10991129	0.20522	T	0.001084	0.01263	T	0.074	0.21613	.	.	0.0482279557977	0.04254	0.42126354584362224	0.42042	1.66538413369	0.89783	0.390446513891	0.23733	T	0.043619	0.26560	T	-0.242678	0.15010	T	-0.586367	0.13982	T	0.0552461020632602	0.06398	T	0.753225	0.38453	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.37783	B	.;.;.;.	.;.;.;.	2.066305	0.26275	17.06	0.88893743474431153	0.18341	0.17872	0.20023	N	AEFDBCI	0.206642	0.33289	N	-0.755394242206855	0.14486	0.7220595	-0.844312832100636	0.13424	0.6963066	0.007063394970045	0.11376	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.67	1.72	0.23498	0.691000	0.25147	2.658000	0.33861	0.591000	0.32079	0.641000	0.28093	0.481000	0.25102	0.102000	0.18378	0.1163:0.0:0.6669:0.2169	4.527	0.11390	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	.	.	.	.	.	.	.	.	0.05	270.43	35	chr11	18266930	.	G	A	270.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.75;DP=358;ExcessHet=0;FS=19.283;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=40.8;MQRankSum=-4.113;QD=5.01;ReadPosRankSum=-4.197;SOR=2.968	GT:AD:DP:GQ:PL	0/1:40,14:54:99:282,0,858	9	0	1	0
chr11	18282062	18282062	T	C	exonic	HPS5	.	nonsynonymous SNV	HPS5:NM_007216:exon21:c.A2875G:p.M959V,HPS5:NM_181508:exon21:c.A2875G:p.M959V,HPS5:NM_181507:exon22:c.A3217G:p.M1073V	Hermansky-Pudlak syndrome 5	0	1521	1	0	0	1	0.000328623	.	.	.	724347	not_provided|HPS5-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.026	.	0.0049	0.00599042	0.0013	0.0145	0.0005	0	0	4.495e-05	0	6.056e-05	0.0013001	201	154602	rs116394570	0.0004	0.0004	0.0004	0.0003	0.0130	0.0003	0.0003	0.0120	0.0116	0.0130	0.0007	0	0	0	0.0003	1.888e-05	0.0009	2.319e-05	0.0035	0.0035	0.0036	0.0033	0.0124	0.0032	0.0031	0.0115	0.0111	0.0124	0	0.0008	0	0	0	0	1.47e-05	0.0024	0	0.694	0.11050	T	0.489	0.54159	T	0.001	0.07471	B	0.001	0.04355	B	0.000548	0.43413	D	0.268098	0.995906	0.23169	N	0.9	0.23182	L	0.75	0.51228	T	-0.41	0.20791	N	0.164	0.22098	-1.0929	0.05066	T	0.026	0.10998	T	10	0.005221337	0.00114	T	.	.	.	0.026	0.05648	.	.	0.235664433957	0.23186	0.22051585028164383	0.21966	0.0526180103936	0.05794	0.360048741102	0.19392	T	0.075449	0.35180	T	-0.558289	0.00260	T	-0.563044	0.16093	T	0.000913649005847682	0.00009	T	0.764923	0.40460	T	0.028037569	0.02083	0.03297346	0.02118	0.028037569	0.02083	0.03297346	0.02117	-3.183	0.12274	T	.	.	0.062	0.02228	B	.;.;.;.	.;.;.;.	0.049184	0.04632	1.293	0.67396568941237145	0.08342	0.22199	0.21665	N	AEFDBI	0.077982	0.15723	N	-0.907812354292291	0.10658	0.5103875	-0.754786924378015	0.15605	0.8215428	0.850874839964972	0.25042	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	4.82	2.41	0.28644	0.064000	0.14310	-0.265000	0.10395	-0.155000	0.11859	0.194000	0.24237	0.483000	0.25112	0.987000	0.62547	0.1363:0.0747:0.1425:0.6465	3.420	0.06963	673	0.60677	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1906.43	33	chr11	18282062	.	T	C	1906.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.099;DP=476;ExcessHet=0;FS=2.019;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.134;SOR=0.77	GT:AD:DP:GQ:PL	0/1:70,83:153:99:1918,0,1569	9	0	1	0
chr11	18534389	18534389	T	C	exonic	UEVLD	.	nonsynonymous SNV	UEVLD:NM_001261384:exon9:c.A799G:p.M267V,UEVLD:NM_001261382:exon10:c.A1123G:p.M375V,UEVLD:NM_001040697:exon11:c.A1189G:p.M397V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0223908065123	0.0002	0.000798722	9.956e-05	0.0004	0.0003	0	0	6.007e-05	0	0	0.0001035	16	154602	rs139529878	0.0001	0.0001	0.0001	0.0001	0.0006	0.0001	9.575e-05	0.0004	0.0004	0.0006	0.0002	0	0	0	0.0002	0.0001	0.0002	0	0.0002	0.0002	0.0002	0.0001	0.0011	0.0001	0.0001	0.0007	0.0006	0.0001	0	0.0011	0	0	0	0	7.349e-05	0	0	0.001	0.78490	D	0.045	0.49390	D	0.0	0.02946	B	0.003	0.08700	B	0.001033	0.40562	U	0.091344	1	0.81001	D	0.55	0.14455	N	-0.16	0.65378	T	-0.22	0.10656	N	0.316	0.35620	-1.0867	0.06102	T	0.074	0.29865	T	10	0.04354304	0.03214	T	0.022391	0.45274	T	0.087	0.25287	.	.	0.5343833383	0.53088	0.6589506091658408	0.65832	0.0905393262645	0.10218	0.308122903109	0.11623	T	0.05587	0.30129	T	-0.356042	0.04359	T	-0.447485	0.27976	T	0.0363160574007667	0.03035	T	0.79742	0.44691	T	0.5055728	0.67421	0.20492408	0.44639	0.5055728	0.67422	0.20492408	0.44638	-4.072	0.24876	T	.	.	0.079	0.07083	B	.;.	.;.	2.189636	0.27918	17.62	0.92492020171265366	0.21926	0.64353	0.32379	D	AEFDBHCI	0.103655	0.20761	N	-0.679751859449806	0.16599	0.8471754	-0.460617060565072	0.23248	1.26684	0.00420302364338145	0.10457	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.82	1.78	0.23918	1.061000	0.30152	2.188000	0.31185	-0.307000	0.06116	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2013:0.1169:0.5538:0.1281	3.064	0.05834	569	0.70546	Lactate/malate dehydrogenase, 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	0.001511	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	557.43	33	chr11	18534389	.	T	C	557.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.029;DP=396;ExcessHet=0;FS=0.82;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.99;ReadPosRankSum=-1.044;SOR=0.79	GT:AD:DP:GQ:PL	0/1:61,32:93:99:569,0,1345	9	0	1	0
chr11	18615304	18615304	C	T	exonic	SPTY2D1	.	nonsynonymous SNV	SPTY2D1:NM_194285:exon3:c.G970A:p.V324I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00288936478833	0.0002	0.000998403	4.95e-05	0.0006	0	0	0	0	0	0	7.12e-05	11	154602	rs185536314	2.052e-05	2.052e-05	1.77e-05	2.338e-05	0.0008	1.456e-05	1.264e-05	0.0006	0.0005	0.0008	0	0	0	0	0	8.993e-07	3.311e-05	0	8.537e-05	8.531e-05	0.0001	6.714e-05	0.0003	4.954e-05	3.96e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.414	0.10020	T	0.446	0.13103	T	0.001	0.07471	B	0.001	0.04355	B	0.992533	0.07912	N	1.003580	0.999959	0.19072	N	1.885	0.50048	L	1.91	0.23283	T	-0.23	0.10656	N	0.068	0.04072	-0.9960	0.31028	T	0.035	0.15204	T	10	0.009514272	0.00214	T	0.002889	0.06104	T	0.039	0.10176	.	.	0.043077524339	0.03247	0.11487532545430024	0.11415	0.133349588617	0.15016	0.297838807106	0.10080	T	6.68E-4	0.00291	T	-0.580407	0.00192	T	-0.755335	0.03282	T	0.0141529225833276	0.00277	T	0.578742	0.20864	T	0.04266186	0.06510	0.029109443	0.01214	0.04266186	0.06510	0.029109443	0.01214	-4.03	0.24251	T	.	.	0.071	0.03698	B	.	.	1.383943	0.17959	13.47	0.69296319928440941	0.08927	0.20822	0.21181	N	AEFGBCI	0.059673	0.11287	N	-0.838170852646708	0.12343	0.6010541	-0.734393338360492	0.16107	0.850472	0.999915400899173	0.45857	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.63	-0.0855	0.13020	0.368000	0.20132	1.034000	0.23503	-0.193000	0.09282	0.811000	0.29866	1.000000	0.68203	0.997000	0.79791	0.1049:0.4392:0.1031:0.3528	3.427	0.06986	607	0.67291	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	2031.43	103	chr11	18615304	.	C	T	2031.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.791;DP=613;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=1.04;SOR=0.758	GT:AD:DP:GQ:PL	0/1:48,82:130:99:2043,0,1058	9	0	1	0
chr11	22218262	22218262	A	G	exonic	ANO5	.	nonsynonymous SNV	ANO5:NM_001142649:exon4:c.A152G:p.N51S,ANO5:NM_213599:exon4:c.A155G:p.N52S	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	2	1504	16	0	0	16	0.00529101	.	.	YES	194564	Gnathodiaphyseal_dysplasia|not_provided|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L|ANO5-Related_Muscle_Diseases	MONDO:MONDO:0008151,MedGen:C1833736,OMIM:166260,Orphanet:53697|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012652,MedGen:C1969785,OMIM:611307,Orphanet:206549|MedGen:CN180644	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.167	0.0771798226101	0.0025	0.00119808	0.0019	0.0007	0.0023	0	0.0012	0.0024	0.0055	0.0016	0.0020181	312	154602	rs143777403	0.0028	0.0028	0.0027	0.0028	0.0045	0.0027	0.0027	0.0032	0.0030	0.0006	0.0021	3.83e-05	0	0.0013	0.0045	0.0031	0.0028	0.0023	0.0024	0.0024	0.0026	0.0022	0.0048	0.0022	0.0021	0.0039	0.0036	0.0008	0	0.0048	0.0003	0	0.0009	0	0.0034	0.0033	0.0021	0.155	0.24183	T	0.354	0.17268	T	0.982	0.60036	D	0.473	0.46845	P	0.000094	0.51296	D	0.136478	0.867587	0.35502	D	1.28	0.32218	L	-0.55	0.71068	T	-1.51	0.36787	N	0.828	0.82358	-0.5162	0.68058	T	0.288	0.65968	T	10	0.037495136	0.02108	T	0.07718	0.72709	D	0.167	0.42761	.	.	0.855486035999	0.85409	0.31611475711489445	0.31524	0.41921375861	0.42481	0.45931917429	0.33217	T	0.059543	0.31144	T	-0.472193	0.00824	T	-0.451569	0.27523	T	0.0119192627461977	0.00186	T	0.735226	0.35154	T	0.11971893	0.28185	0.14512795	0.34431	0.11971893	0.28184	0.14512795	0.34430	-3.364	0.14576	T	.	.	0.116	0.23360	B	.	.	3.078039	0.41394	21.3	0.99346575813317328	0.60412	0.97183	0.73178	D	AEFI	0.677588	0.64224	D	0.406070488179022	0.61755	4.381049	0.483276382154926	0.66882	5.010275	0.973475985227051	0.29459	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.87	5.87	0.94266	6.137000	0.71462	11.125000	0.86648	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.281	0.82514	795	0.45444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.05	3586.43	39	chr11	22218262	.	A	G	3586.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=652;ExcessHet=0;FS=0.42;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.267;SOR=0.65	GT:AD:DP:GQ:PL	0/1:144,155:299:99:3598,0,3141	9	0	1	0
chr11	34146171	34146171	-	A	exonic	NAT10	.	frameshift insertion	NAT10:NM_001144030:exon27:c.2842dupA:p.L949Tfs*16,NAT10:NM_024662:exon29:c.3058dupA:p.L1021Tfs*16	.	428	1084	10	0	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.000798722	0.0011	0	0.0014	0	0.0002	0.0015	0.0032	0.0014	0.0003458	9	26028	rs369711679	0.0006	0.0006	0.0006	0.0007	0.0247	0.0006	0.0006	0.0214	0.0201	0.0014	0.0011	0.0001	2.521e-05	0.0002	0.0247	0.0005	0.0012	0.0008	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0007	0.0005	0.0001	0	0.0010	0.0003	0	0	0.0340	0.0007	0.0024	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015609	0.010101	0.009511	0.049708	0.050000	0.051724	0.000000	0.003788	0.05	595.39	33	chr11	34146171	.	G	GA	595.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.39;DP=360;ExcessHet=0;FS=5.479;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.948;SOR=0.747	GT:AD:DP:GQ:PL	0/1:32,23:55:99:607,0,937	9	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	.	.	.	.	.	.	.	.	0.08333	44.18	60	chr11	49981809	.	C	G	44.18	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.545;DP=690;ExcessHet=0;FS=126.666;InbreedingCoeff=-0.2079;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=1.54;SOR=6.868	GT:AD:DP:GQ:PL	0/1:84,21:114:52:52,0,1843	5	0	1	4
chr11	56664208	56664208	A	G	exonic	OR5AR1	.	nonsynonymous SNV	OR5AR1:NM_001004730:exon1:c.A523G:p.N175D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00131596266405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.14184	B	0.019	0.18783	B	0.000076	0.52346	D	0.000000	0.986732	0.24587	N	0.1	0.08449	N	.	.	.	.	.	.	.	.	-0.9954	0.31191	T	0.000	0.00114	T	10	0.07655746	0.11974	T	0.001316	0.01834	T	.	.	0.566	0.68768	.	.	0.1756802264442806	0.17487	.	.	0.40213316679	0.25366	T	0.012636	0.11071	T	-0.299658	0.08692	T	-0.668215	0.07724	T	0.498746454715729	0.32584	T	0.30297	0.05734	T	0.33989102	0.56271	0.34797403	0.60444	0.33989102	0.56271	0.34797403	0.60443	-5.18	0.38738	T	.	.	0.097	0.15966	B	.	.	2.474635	0.31903	18.88	0.99082378479530342	0.52002	0.56834	0.30219	D	AEFI	0.115127	0.22649	N	-0.450742056537222	0.23714	1.275448	-0.310266629762479	0.27766	1.543063	1.81231068142571E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.8	3.65	0.40985	1.654000	0.36950	.	.	0.656000	0.54149	0.160000	0.23797	0.017000	0.20586	0.993000	0.69303	0.6407:0.0:0.1702:0.1891	2.931	0.05444	447	0.79583	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	.	.	.	.	.	.	.	.	0.05	2444.43	34	chr11	56664208	.	A	G	2444.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.02;DP=688;ExcessHet=0;FS=0.982;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-1.974;SOR=0.625	GT:AD:DP:GQ:PL	0/1:139,106:245:99:2456,0,3522	9	0	1	0
chr11	57379730	57379730	C	T	exonic	PRG3	.	nonsynonymous SNV	PRG3:NM_006093:exon3:c.G139A:p.E47K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00376170926973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.08813	T	0.444	0.13177	T	0.998	0.73220	D	0.896	0.63555	P	0.690142	0.10183	N	0.850395	1	0.08975	N	2.505	0.72935	M	3.57	0.04645	T	-2.14	0.48523	N	0.121	0.11197	-0.9986	0.30311	T	0.026	0.11176	T	10	0.110052705	0.20554	T	0.003762	0.08744	T	0.032	0.07718	0.274	0.22528	0.365892764245	0.36201	0.42860867135048925	0.42777	0.0486226977544	0.05311	0.269430577755	0.06067	T	0.093645	0.39254	T	-0.250683	0.14014	T	-0.597865	0.12992	T	0.20536593848873	0.20708	T	0.652235	0.26282	T	0.10989174	0.25978	0.07002446	0.14827	0.10989174	0.25978	0.07002446	0.14827	-5.365	0.40582	T	.	.	0.080	0.07554	B	.	.	1.475552	0.19003	14.04	0.99258573592212263	0.57121	0.73366	0.35888	D	AEFDGBHCI	0.057001	0.10582	N	-0.378796946062851	0.26227	1.429705	-0.619901213133764	0.18981	1.016457	0.016770249721053	0.12870	0.648878	0.45929	0	0.55458	0.17659	0	0.596394	0.31383	0	0.562822	0.20929	0	.	.	4.84	-0.51	0.11376	0.147000	0.16021	-0.543000	0.08571	0.549000	0.26987	0.095000	0.22689	0.000000	0.08366	0.016000	0.10718	0.0:0.41:0.3156:0.2744	4.412	0.10864	329	0.86514	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1834.43	103	chr11	57379730	.	C	T	1834.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.753;DP=1131;ExcessHet=0;FS=2.065;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.828;SOR=0.511	GT:AD:DP:GQ:PL	0/1:77,75:152:99:1846,0,1982	9	0	1	0
chr11	58403321	58403321	G	A	exonic	OR5B3	.	nonsynonymous SNV	OR5B3:NM_001005469:exon1:c.C89T:p.P30L	.	441	1063	17	1	0	19	0.00885781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	0.0080	0.00738818	0.0053	0.0167	0.0037	0	0.0065	0.0054	0.0073	0.0016	0.0047412	733	154602	rs17152661	0.0031	0.0031	0.0031	0.0031	0.0151	0.0031	0.0030	0.0137	0.0132	0.0147	0.0036	0.0152	7.557e-05	0.0052	0.0151	0.0025	0.0040	0.0020	0.0076	0.0076	0.0076	0.0076	0.0151	0.0072	0.0071	0.0141	0.0137	0.0151	0	0.0060	0.0183	0.0002	0.0046	0.0250	0.0038	0.0106	0.0021	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.941653	0.08349	N	0.966290	1	0.08975	N	-3.825	0.00001	N	8.39	0.00243	T	2.85	0.00163	N	0.062	0.03392	-0.9030	0.47673	T	0.000	0.00011	T	10	0.0030655265	0.00051	T	.	.	.	0.133	0.36157	.	.	0.518367700685	0.51479	0.07737123511278876	0.07673	0.0302674356844	0.03124	0.186848372221	0.00174	T	0.002289	0.01691	T	-0.773891	0.00012	T	-0.871444	0.00729	T	0.00989484897915771	0.00131	T	0.49875	0.15541	T	0.018179145	0.00339	0.032835964	0.02081	0.018179145	0.00339	0.032835964	0.02081	3.373	0.00015	T	.	.	0.058	0.00681	B	.;.	.;.	-1.019660	0.00744	0.023	0.10720797962567311	0.00142	0.00179	0.01050	N	AEFI	0.027754	0.02325	N	-1.93573085958009	0.00290	0.01242622	-1.73193631102863	0.01003	0.04495927	2.71263241862682E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.19	2.12	0.26372	0.570000	0.23357	-4.298000	0.02231	-0.647000	0.04405	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.449:0.0:0.551:0.0	8.016	0.29539	254	0.90023	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.025253	0.009511	0.005848	0.000000	0.000000	0.012195	0.000000	0.05	673.43	42	chr11	58403321	.	G	A	673.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.192;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=0.223;SOR=0.687	GT:AD:DP:GQ:PL	0/1:37,32:69:99:685,0,842	9	0	1	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	.	.	.	.	.	.	.	.	0.5	4287.03	85	chr11	61740531	.	T	C	4287.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.113;DP=1125;ExcessHet=22.563;FS=268.204;InbreedingCoeff=-0.9992;MLEAC=10;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=3.99;ReadPosRankSum=1.35;SOR=10.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,43:113:99:.:.:412,0,1143:.	0	0	10	0
chr11	61958159	61958159	C	T	exonic	BEST1	.	nonsynonymous SNV	BEST1:NM_001363591:exon5:c.C410T:p.A137V,BEST1:NM_001139443:exon6:c.C548T:p.A183V,BEST1:NM_001300786:exon6:c.C548T:p.A183V,BEST1:NM_001300787:exon6:c.C548T:p.A183V,BEST1:NM_001363592:exon7:c.C728T:p.A243V,BEST1:NM_004183:exon7:c.C728T:p.A243V	Bestrophinopathy, autosomal recessive;Macular dystrophy, vitelliform, 2, Autosomal dominant;Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Autosomal dominant;Retinitis pigmentosa, concentric;Retinitis pigmentosa-50;Vitreoretinochoroidopathy, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	YES	17776	Retinal_dystrophy|Vitelliform_macular_dystrophy_2|not_provided|Vitelliform_macular_dystrophy_1|Autosomal_dominant_vitreoretinochoroidopathy	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:0007931,MedGen:C2745945,OMIM:153700,Orphanet:1243|MedGen:C3661900|MONDO:MONDO:0007933,MedGen:C4551953,OMIM:153840,Orphanet:99000|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220,Orphanet:263347,Orphanet:3086	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.939	0.601338176067	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs28940570	6.18e-06	6.163e-06	4.101e-06	8.279e-06	0.0002	2.91e-06	2.11e-06	1.95e-06	1.28e-06	3e-05	0	0	0	0	0.0002	5.418e-06	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	A	2.98	0.85499	M	-5.2	0.98852	D	-3.92	0.73151	D	0.927	0.93135	1.080	0.98878	D	0.976	0.99251	D	9	0.9887816	0.99312	D	0.601338	0.96491	D	0.939	0.98672	0.963	0.99627	0.99396440531	0.99389	0.8087822321045613	0.80833	0.96835728464	0.73271	0.740800857544	0.73090	T	0.934516	0.98920	D	0.528246	0.95140	D	0.521012	0.95068	D	0.9835604429245	0.75184	D	0.988501	0.96026	D	0.68697536	0.77347	0.5292981	0.72803	0.6219698	0.73870	0.56277543	0.74699	-11.112	0.80269	D	0.38101511345385736	0.47545	0.801	0.77310	P	.;.;.	.;.;.	4.471988	0.69692	25.4	0.9987836238871135	0.95491	0.98492	0.83351	D	AEFDBI	0.948661	0.96052	D	0.754451501140545	0.83194	7.954005	0.675786760129567	0.80546	7.322536	0.999999999999997	0.74766	0.516011	0.20929	0	0.588066	0.40923	0	0.577349	0.28860	0	0.613276	0.41899	0	.	.	4.96	4.96	0.65153	7.707000	0.83595	3.745000	0.39664	0.544000	0.25403	1.000000	0.71638	0.999000	0.35428	0.960000	0.51673	0.0:1.0:0.0:0.0	17.821	0.88561	754	0.51307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1595.12	42	chr11	61958159	.	C	T	1595.12	.	AC=2;AF=0.1;AN=20;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.9;SOR=1.519	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1618,150,0	9	1	0	0
chr11	62649014	62649014	A	C	exonic	INTS5	.	nonsynonymous SNV	INTS5:NM_030628:exon2:c.T1066G:p.S356A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00341116870705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.24277	T	0.205	0.27145	T	0.043	0.21573	B	0.019	0.18783	B	0.000005	0.62929	D	0.064020	0.675929	0.33187	D	1.04	0.26193	L	.	.	.	-0.49	0.15578	N	0.169	0.17966	-0.8577	0.51427	T	0.113	0.40422	T	9	0.13921371	0.26471	T	0.003411	0.07664	T	0.059	0.16972	0.335	0.32329	0.337439445736	0.33357	0.2997178067159848	0.29884	0.400708583971	0.41073	0.762351930141	0.76279	T	0.038542	0.24878	T	-0.00399013	0.51102	T	-0.243508	0.50456	T	0.603894174098969	0.36555	D	0.626337	0.24237	T	0.17183024	0.37839	0.066152535	0.13510	0.17183024	0.37839	0.066152535	0.13510	-2.767	0.07883	T	.	.	0.109	0.20934	B	.	.	3.081535	0.41459	21.4	0.9873790678619685	0.45452	0.95352	0.64386	D	AEFBCI	0.585143	0.58368	D	-0.0409903838230542	0.40004	2.368541	0.130342418526993	0.46109	2.862301	0.999999995856246	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	5.561000	0.67042	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	12.223	0.53755	296	0.88164	Integrator complex subunit 5, 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	.	.	.	.	.	.	.	.	0.1	2651.12	34	chr11	62649014	.	A	C	2651.12	.	AC=2;AF=0.1;AN=20;DP=408;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.13;SOR=0.786	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2674,264,0	9	1	0	0
chr11	64320780	64320780	G	T	exonic	PRDX5	.	nonsynonymous SNV	PRDX5:NM_001358511:exon2:c.G291T:p.K97N,PRDX5:NM_001358516:exon3:c.G270T:p.K90N,PRDX5:NM_012094:exon3:c.G426T:p.K142N	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0021	0.00339457	0.0039	0.0010	0.0014	0	0.0073	0.0035	0.0022	0.0098	0.0036416	563	154602	rs142314160	0.0030	0.0030	0.0028	0.0033	0.0108	0.0030	0.0029	0.0090	0.0088	0.0006	0.0010	0.0129	0	0.0059	0.0108	0.0023	0.0038	0.0095	0.0024	0.0024	0.0023	0.0025	0.0081	0.0022	0.0021	0.0061	0.0054	0.0005	0	0.0012	0.0118	0	0.0062	0.0034	0.0025	0.0047	0.0081	0.999	0.01930	T	0.914	0.02926	T	0.0	0.02946	B	0.002	0.06944	B	0.931437	0.08418	N	0.970693	1	0.08975	N	0.135	0.08676	N	0.87	0.46412	T	1.04	0.01332	N	0.164	0.17278	-0.9995	0.30058	T	0.031	0.13286	T	10	0.0032073557	0.00054	T	.	.	.	0.042	0.11227	0.399	0.42753	0.162503812791	0.15892	0.7103360674987805	0.70975	0.135934299944	0.15331	0.306939780712	0.11444	T	0.10943	0.42330	T	-0.679651	0.00048	T	-0.741087	0.03845	T	0.00420612251847449	0.00045	T	0.867913	0.56927	D	0.19736712	0.41599	0.07585731	0.16741	0.19736712	0.41599	0.07585731	0.16741	-6.77	0.52336	T	.	.	0.130	0.27939	B	.	.	0.161592	0.05522	1.982	0.76430800272248767	0.11465	0.09661	0.15367	N	AEFGBCI	0.612336	0.60045	D	-1.39364366188361	0.02697	0.1194626	-1.4067633592384	0.03184	0.1480001	0.999999302266234	0.74766	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	4.66	-6.13	0.01937	-2.215000	0.01306	-3.144000	0.03024	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.988000	0.63387	0.235:0.1233:0.4619:0.1798	3.077	0.05874	641	0.64016	Redoxin|Thioredoxin 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	0.014099	0.000000	0.017663	0.005848	0.000000	0.017241	0.015244	0.022727	0.1	2943.12	33	chr11	64320780	.	G	T	2943.12	.	AC=2;AF=0.1;AN=20;DP=403;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.43;SOR=0.909	GT:AD:DP:GQ:PL	1/1:0,100:100:99:2966,300,0	9	1	0	0
chr11	64349373	64349373	C	T	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon15:c.C2659T:p.R887W	.	426	1075	20	1	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.516876733271	.	0.00119808	0.0024	0.0008	0.0006	0	0.0079	0.0017	0.0024	0.0067	0.002044	316	154602	rs149017597	0.0021	0.0021	0.0020	0.0023	0.0058	0.0021	0.0020	0.0054	0.0052	0.0004	0.0004	0.0013	2.519e-05	0.0059	0.0055	0.0019	0.0021	0.0058	0.0016	0.0016	0.0014	0.0017	0.0035	0.0014	0.0013	0.0022	0.0018	0.0005	0	0.0007	0.0012	0	0.0062	0	0.0017	0.0028	0.0035	0.004	0.68238	D	0.005	0.76473	D	0.999	0.77913	D	0.857	0.61067	P	.	.	.	.	1	0.81001	D	1.545	0.39105	L	1.83	0.49068	T	-3.82	0.71997	D	0.752	0.75101	-0.6427	0.63030	T	0.231	0.59682	T	9	0.037271976	0.02071	T	0.516877	0.95387	D	0.160	0.41473	.	.	0.323615622048	0.31974	0.36906211240562814	0.36820	0.915477084203	0.71221	0.557792663574	0.46955	T	0.070985	0.34095	T	-0.40467	0.02157	T	-0.351445	0.39040	T	0.0280215886968209	0.01691	T	0.90391	0.66280	D	0.19918197	0.41847	0.1862546	0.41787	0.19918197	0.41847	0.1862546	0.41786	-8.788	0.66322	D	.	.	0.194	0.41511	B	.;.	.;.	4.666995	0.74550	26.2	0.99908491774259456	0.97875	0.44706	0.27377	N	AEFDGBI	0.288410	0.40031	N	0.309649060448982	0.56643	3.829295	0.208976877989693	0.50345	3.22753	0.999999733710105	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.68	3.68	0.41359	0.676000	0.24927	1.745000	0.28430	0.577000	0.29297	0.306000	0.25378	0.921000	0.28324	0.299000	0.24476	0.0:1.0:0.0:0.0	11.692	0.50783	534	0.73357	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009615	0.000000	0.009511	0.005952	0.000000	0.008621	0.009202	0.018939	0.1	2580.12	42	chr11	64349373	.	C	T	2580.12	.	AC=2;AF=0.1;AN=20;DP=419;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.54;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,58:58:99:1|1:64349371_A_C:2603,175,0:64349371	9	1	0	0
chr11	64895014	64895014	C	T	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon41:c.G5752A:p.D1918N,ATG2A:NM_001367972:exon41:c.G5758A:p.D1920N,ATG2A:NM_015104:exon41:c.G5776A:p.D1926N	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0305586077748	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1467890229	4.792e-06	4.788e-06	2.724e-06	6.881e-06	1.16e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.398e-06	0	1.16e-05	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	0.004	0.65419	D	0.006	0.70582	D	0.99	0.63424	D	0.87	0.61806	P	0.000149	0.49130	D	0.133121	0.999147	0.46174	D	1.445	0.36358	L	3.06	0.08634	T	-2.68	0.57275	D	0.357	0.39861	-0.8791	0.49833	T	0.195	0.54942	T	10	0.22546789	0.39377	T	0.030559	0.52842	D	0.146	0.38789	0.513	0.61153	0.255117706274	0.25116	0.7666698578743864	0.76615	1.17859640205	0.79955	0.46674489975	0.34234	T	0.115551	0.43422	T	-0.280652	0.10599	T	-0.625427	0.10764	T	0.957094848155975	0.64922	D	0.943806	0.79443	D	0.32760635	0.55275	0.2609125	0.51862	0.32760635	0.55275	0.2609125	0.51861	-5.206	0.39003	T	.	.	0.231	0.54228	B	.;.	.;.	4.383477	0.67590	25.1	0.99891590758390425	0.96589	0.91884	0.54472	D	AEFGBCI	0.646505	0.62202	D	0.131850472001789	0.47952	3.013974	0.157738393009746	0.47553	2.98386	0.999999971340496	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.99	3.03	0.34070	5.786000	0.68654	5.852000	0.50347	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.8129:0.1871:0.0	11.273	0.48384	257	0.89904	Autophagy-related, 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	.	.	.	.	.	.	.	.	0.1	1005.12	35	chr11	64895014	.	C	T	1005.12	.	AC=2;AF=0.1;AN=20;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.72;SOR=0.869	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1028,104,0	9	1	0	0
chr11	66644055	66644055	G	A	exonic	RBM14-RBM4;RBM4	.	nonsynonymous SNV	RBM14-RBM4:NM_001198845:exon2:c.G943A:p.A315T,RBM4:NM_002896:exon3:c.G1018A:p.A340T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.00440103716185	.	.	5.815e-05	0	0	0.0003	0	4.514e-05	0	6.058e-05	4.53e-05	7	154602	rs760916903	1.231e-05	1.3e-05	1.225e-05	1.238e-05	0.0002	7.7e-06	6.35e-06	6.51e-05	4.449e-05	2.987e-05	2.236e-05	0	0.0002	0	0.0002	2.698e-06	1.656e-05	5.797e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.373	0.49613	T	1.0	0.14241	T	0.0	0.02946	B	0.0	0.01387	B	0.003866	0.34390	U	0.241690	0.910085	0.81001	D	0.145	0.08828	N	0.91	0.44856	T	-0.6	0.19297	N	0.391	0.43223	-1.0179	0.24398	T	0.045	0.19356	T	10	0.10428718	0.19217	T	0.004401	0.10749	T	0.163	0.42028	0.305	0.27485	0.507827162178	0.50422	0.5258048253870012	0.62953	0.4343084013	0.43717	.	.	.	0.068459	0.33461	T	-0.286655	0.09974	T	-0.329527	0.41522	T	0.0641913040658554	0.07811	T	0.19958	0.02245	T	0.12259344	0.28804	0.18827988	0.42109	0.12259344	0.28804	0.18827988	0.42108	-4.908	0.35825	T	.	.	0.072	0.10545	B	.;.;.;.;.	.;.;.;.;.	3.604513	0.50925	23.0	0.99762510762401113	0.85172	0.89584	0.50142	D	AEFDBHCI	0.544052	0.55913	D	-0.0508149130959662	0.39565	2.335315	0.176920931945126	0.48586	3.072477	0.999999999642398	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	6.17	6.17	0.99707	2.222000	0.42568	7.641000	0.63200	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8411:0.1589	13.211	0.59251	124	0.95048	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3986.12	39	chr11	66644055	.	G	A	3986.12	.	AC=2;AF=0.1;AN=20;DP=517;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=27.87;SOR=0.765	GT:AD:DP:GQ:PL	1/1:0,143:143:99:4009,429,0	9	1	0	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	928.21	47	chr11	66863811	.	C	T	928.21	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.219;DP=1024;ExcessHet=4.5998;FS=159.643;InbreedingCoeff=-0.4326;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.45;SOR=11.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:87,58:145:99:.:.:378,0,1212:.	4	0	6	0
chr11	73310209	73310209	C	T	exonic	ARHGEF17	.	nonsynonymous SNV	ARHGEF17:NM_014786:exon1:c.C1571T:p.A524V	.	421	1088	13	0	0	13	0.00593878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0038	0.00219649	0.0029	0.0012	0.0035	0	0.0003	0.0040	0.0056	0.0019	0.0030465	471	154602	rs61758707	0.0035	0.0035	0.0034	0.0036	0.0055	0.0035	0.0034	0.0040	0.0037	0.0013	0.0033	0.0080	0	0.0004	0.0055	0.0039	0.0032	0.0023	0.0033	0.0033	0.0034	0.0032	0.0074	0.0031	0.0030	0.0063	0.0059	0.0011	0	0.0074	0.0066	0	0.0011	0.0068	0.0043	0.0052	0.0017	0.006	0.61437	D	0.063	0.45110	T	0.0	0.02946	B	0.001	0.04355	B	0.310160	0.04010	N	1.478380	1	0.08975	N	0.55	0.14455	N	0.38	0.57575	T	-0.42	0.14193	N	0.041	0.01421	-1.0115	0.26447	T	0.069	0.28379	T	10	0.0037102997	0.00068	T	.	.	.	0.080	0.23350	.	.	0.231005064126	0.22704	0.148855463160789	0.14807	0.379407620271	0.39337	0.335350215435	0.15740	T	0.014509	0.12336	T	-0.634755	0.00089	T	-0.682223	0.06848	T	0.000492125526900444	0.00004	T	0.606339	0.22814	T	0.051751472	0.09549	0.044074226	0.05627	0.051751472	0.09549	0.044074226	0.05627	-3.735	0.19835	T	.	.	0.070	0.03301	B	.	.	0.122064	0.05193	1.707	0.91598573106498904	0.20881	0.13038	0.17627	N	AEFDGBCI	.	.	.	-1.18622771037472	0.05208	0.2368573	-1.21942541963487	0.05598	0.2671778	0.999989269551639	0.51787	0.676563	0.55306	0	0.541556	0.11502	0	0.673471	0.61138	0	0.638787	0.57140	0	.	.	4.62	-1.47	0.08312	0.202000	0.17094	0.518000	0.19139	-0.182000	0.10109	0.000000	0.06391	0.002000	0.18203	0.039000	0.14166	0.0:0.3198:0.2952:0.385	4.817	0.12738	625	0.65529	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.010101	0.002717	0.005848	0.100000	0.000000	0.000000	0.000000	0.05	936.43	39	chr11	73310209	.	C	T	936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.089;DP=426;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.335;SOR=0.715	GT:AD:DP:GQ:PL	0/1:52,40:92:99:948,0,1419	9	0	1	0
chr11	74034038	74034038	G	A	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon31:c.C6122T:p.A2041V	.	428	1046	45	3	0	51	0.0237984	.	.	.	1636264	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.022	.	.	0.00419329	0.0103	0.0029	0.0105	0	0.0012	0.0118	0.0155	0.0121	0.0024903	385	154602	rs145765035	0.0102	0.0097	0.0100	0.0105	0.0207	0.0101	0.0100	0.0177	0.0165	0.0013	0.0088	0.0141	2.798e-05	0.0021	0.0207	0.0107	0.0105	0.0144	0.0072	0.0072	0.0069	0.0076	0.0149	0.0069	0.0067	0.0122	0.0111	0.0019	0	0.0105	0.0118	0.0006	0.0020	0.0170	0.0103	0.0104	0.0149	0.357	0.12032	T	1.0	0.01155	T	.	.	.	.	.	.	0.303068	0.14564	N	0.568389	1	0.08975	N	0.69	0.16971	N	2.89	0.10196	T	-0.68	0.19509	N	0.049	0.02088	-0.9562	0.39879	T	0.014	0.05513	T	7	0.0032682419	0.00056	T	.	.	.	0.022	0.04323	.	.	0.190952846119	0.18690	0.09636815681837105	0.09568	.	.	.	.	.	0.014624	0.12415	T	-0.686165	0.00044	T	-0.746728	0.03615	T	0.00242903817196853	0.00025	T	0.384762	0.09420	T	0.014301993	0.00088	0.027103482	0.00840	0.018582454	0.00379	0.027103482	0.00840	-3.909	0.22438	T	0.4769490741205062	0.55632	0.086	0.10449	B	.	.	0.334210	0.07081	3.651	0.96379676144853632	0.29614	0.16803	0.19556	N	AEFBI	0.042617	0.06635	N	-0.505629189530834	0.21898	1.165457	-0.619008337508464	0.19005	1.017794	0.725674567777487	0.22984	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.03	0.757	0.17574	0.457000	0.21588	-0.302000	0.10107	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.381000	0.26357	0.2722:0.1111:0.6167:0.0	7.148	0.24772	325	0.86759	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1	4629.14	37	chr11	74034038	.	G	A	4629.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.068;DP=689;ExcessHet=0.2348;FS=3.234;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.568;SOR=0.547	GT:AD:DP:GQ:PL	0/1:103,98:201:99:2342,0,2707	8	0	2	0
chr11	74492139	74492139	T	C	exonic	LIPT2	.	nonsynonymous SNV	LIPT2:NM_001144869:exon2:c.A692G:p.N231S	.	.	.	.	.	.	.	.	.	.	.	1357491	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.005	0.00418522540232	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs760634490	4.862e-05	4.652e-05	4.233e-05	5.508e-05	8.403e-05	3.896e-05	3.565e-05	4.13e-05	3.772e-05	3.165e-05	8.403e-05	0	0	0.0001	0	5.286e-05	1.725e-05	1.262e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	.	.	0	0	6.544e-05	0	0	0	0	1.47e-05	0.0005	0.0002	0.48	0.08237	T	0.329	0.18617	T	0.0	0.02946	B	0.001	0.04355	B	0.396765	0.13180	N	0.726395	1	0.08975	N	-0.205	0.04094	N	.	.	.	-0.2	0.10136	N	0.067	0.03956	-1.0467	0.15332	T	0.030	0.12848	T	9	0.021445334	0.00513	T	0.004185	0.10058	T	0.005	0.00259	0.216	0.13643	0.0138822411134	0.00435	0.7206688602455656	0.72009	.	.	0.294632911682	0.09603	T	0.015667	0.13095	T	-0.5071	0.00521	T	-0.772542	0.02686	T	0.0165378304813464	0.00416	T	0.410359	0.10588	T	0.012899582	0.00044	0.013435964	0.00000	0.012899582	0.00044	0.013435964	0.00000	-2.417	0.05238	T	.	.	0.061	0.01075	B	.	.	-1.497805	0.00296	0.005	0.58210268950209887	0.05942	0.00462	0.02227	N	AEFDGBCI	0.024640	0.01558	N	-2.15559823522945	0.00096	0.004123002	-2.2418883323255	0.00090	0.003958387	0.999999999998832	0.74766	0.740787	0.97801	0	0.659912	0.62753	0	0.643519	0.47002	0	0.673998	0.66042	0	.	.	4.63	-9.25	0.00566	-0.449000	0.06885	-4.466000	0.02142	-1.974000	0.00467	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.089:0.345:0.0885:0.4775	4.988	0.13546	343	0.85802	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1788.43	34	chr11	74492139	.	T	C	1788.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=435;ExcessHet=0;FS=1.56;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.09;SOR=0.512	GT:AD:DP:GQ:PL	0/1:61,65:126:99:1800,0,1663	9	0	1	0
chr11	89804231	89804231	A	G	exonic	TRIM49	.	nonsynonymous SNV	TRIM49:NM_020358:exon3:c.T239C:p.V80A	.	439	1064	19	0	0	19	0.00884956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	8e-05	0.00279553	0.0012	0.0003	0.0003	0.0001	0	0.0001	0.0040	0.0069	0.0006531	17	26028	rs201177336	0.0006	0.0006	0.0005	0.0008	0.0064	0.0006	0.0006	0.0060	0.0058	0.0004	0.0003	7.659e-05	0.0002	7.497e-05	0.0022	0.0002	0.0008	0.0064	0.0004	0.0004	0.0003	0.0005	0.0061	0.0003	0.0003	0.0044	0.0038	0.0003	0	6.569e-05	0	0.0002	0	0	0.0003	0	0.0061	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.135	0.00144	N	-1.86	0.84341	D	2.94	0.00188	N	0.04	0.03069	-0.9003	0.47962	T	0.255	0.62552	T	8	0.0045464933	0.00094	T	.	.	.	0.109	0.30843	.	.	0.043077524339	0.03247	0.02358505857082607	0.02310	2.12423409236	0.95047	0.358738064766	0.19201	T	0.001576	0.01012	T	-0.564362	0.00239	T	-0.581247	0.14434	T	0.00566728115634366	0.00062	T	0.0446955	0.00315	T	0.017421331	0.00271	0.03335311	0.02216	0.017421331	0.00271	0.03335311	0.02216	-3.469	0.16000	T	.	.	0.092	0.13737	B	.;.	.;.	-0.468543	0.01970	0.171	0.2073117112903767	0.00758	0.00025	0.00253	N	AEFI	0.011753	0.00111	N	-1.55267592002058	0.01519	0.06633291	-1.62180192485294	0.01528	0.06921236	1.21524163031965E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.821	-0.802	0.10340	0.624000	0.24156	-4.916000	0.01928	-0.466000	0.05104	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.3336:0.0:0.6664:0.0	3.248	0.06402	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	1	0	0	0	0.002457	0.000000	0.000000	0.000000	0.000000	0.000000	0.007874	0.012931	0.05	3441.43	33	chr11	89804231	.	A	G	3441.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.12;DP=613;ExcessHet=0;FS=1.427;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.7;MQRankSum=-3.126;QD=11.91;ReadPosRankSum=-0.189;SOR=0.792	GT:AD:DP:GQ:PL	0/1:149,140:289:99:3453,0,3345	9	0	1	0
chr11	90086558	90086558	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G609C:p.R203S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0016	0.0005	0.0005	0.0006	0.0005	0.0004	0.0006	0.0005	0.0003	0	0.0002	0	0	0.0006	0.0006	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.31427	T	0.02	0.18235	B	0.024	0.20255	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.177	0.19055	.	.	.	.	.	.	.	0.07897973	0.12652	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.20041654349623925	0.19958	.	.	0.434744000435	0.29857	T	0.02618	0.19424	T	-0.0652308	0.42086	T	-0.331476	0.41304	T	.	.	.	0.258474	0.04102	T	0.19470586	0.41231	0.14969048	0.35334	0.19470586	0.41231	0.14969048	0.35333	-1.725	0.02295	T	.	.	0.158	0.34949	B	.	.	0.764181	0.11341	7.959	0.48982207246768944	0.04133	0.11168	0.16454	N	AEFI	.	.	.	.	.	.	.	.	.	1.24664943251294E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	1.319000	0.33260	-1.431000	0.05455	0.311000	0.19140	0.058000	0.21700	0.000000	0.08366	0.034000	0.13613	0.0:0.0:0.6123:0.3877	4.372	0.10686	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	167.97	59	chr11	90086558	.	G	C	167.97	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.036;DP=306;ExcessHet=0.8432;FS=77.195;InbreedingCoeff=-0.3037;MLEAC=3;MLEAF=0.214;MQ=35.27;MQRankSum=-1.185;QD=1.53;ReadPosRankSum=0.814;SOR=6.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,3:8:82:0|1:90086558_G_C:82,0,165:90086558	4	0	3	3
chr11	90086559	90086559	T	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.T610C:p.S204P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0034	0.0014	0.0010	0.0015	0.0011	0.0011	0.0014	0.0014	0.0007	6.138e-05	0.0003	0.0002	0	0.0015	0.0015	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.30729	T	0.114	0.26387	B	0.055	0.25995	B	.	.	.	.	.	.	.	1.81	0.47622	L	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.09870526	0.17865	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.206982614041448	0.20614	.	.	0.471310138702	0.34860	T	0.051993	0.29036	T	-0.036046	0.46533	T	-0.289554	0.45819	T	.	.	.	0.212979	0.02609	T	0.15890183	0.35723	0.25574014	0.51261	0.15890183	0.35723	0.25574014	0.51260	-4.303	0.28219	T	.	.	0.081	0.08272	B	.	.	1.230443	0.16252	12.42	0.61155269003408275	0.06639	0.12260	0.17159	N	AEFI	.	.	.	.	.	.	.	.	.	2.32955600745505E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	0.059000	0.14199	-0.821000	0.07295	0.305000	0.19019	0.018000	0.19461	0.000000	0.08366	0.048000	0.15020	0.0:0.0:0.0:1.0	6.324	0.20441	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	101.28	59	chr11	90086559	.	T	C	101.28	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.17;DP=296;ExcessHet=0.8432;FS=51.788;InbreedingCoeff=-0.3196;MLEAC=4;MLEAF=0.286;MQ=35.44;MQRankSum=-1.083;QD=0.93;ReadPosRankSum=1.39;SOR=5.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,3:8:82:0|1:90086558_G_C:82,0,165:90086558	4	0	3	3
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	0.1	2877.12	36	chr11	94528131	.	G	A	2877.12	.	AC=2;AF=0.1;AN=20;DP=465;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.77;SOR=1.167	GT:AD:DP:GQ:PL	1/1:0,100:100:99:2900,300,0	9	1	0	0
chr11	94589192	94589192	G	A	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon8:c.G986A:p.R329Q	.	434	1047	38	3	0	44	0.02058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00244002209194	0.0021	0.00279553	0.0031	0.0009	0.0018	0.0003	0.0003	0.0033	0.0022	0.0072	0.0028266	437	154602	rs149372122	0.0023	0.0023	0.0021	0.0025	0.0302	0.0023	0.0022	0.0265	0.0251	0.0015	0.0021	0.0179	0.0003	0.0001	0.0302	0.0016	0.0049	0.0065	0.0022	0.0022	0.0021	0.0023	0.0075	0.0020	0.0019	0.0056	0.0049	0.0006	0	0.0031	0.0193	0.0004	0.0002	0.0170	0.0020	0.0066	0.0075	0.291	0.14945	T	0.539	0.09795	T	0.104	0.25941	B	0.041	0.23986	B	0.008016	0.31069	N	0.221517	0.971075	0.25672	N	2.335	0.66956	M	2.53	0.14038	T	-0.9	0.24244	N	0.103	0.08646	-1.0311	0.20099	T	0.017	0.06855	T	10	0.005399823	0.00119	T	0.00244	0.04813	T	0.013	0.01715	.	.	0.39694197178	0.39312	0.18378899712524147	0.18297	0.376133211831	0.39054	0.261308073997	0.05048	T	0.019712	0.15652	T	-0.605849	0.00134	T	-0.639869	0.09678	T	0.0138040315181403	0.00261	T	0.838616	0.51177	T	0.15862426	0.35676	0.17096731	0.39245	0.15862426	0.35676	0.17096731	0.39245	-6.037	0.46588	T	.	.	0.089	0.12084	B	.	.	2.953575	0.39306	20.9	0.9918277867257318	0.54730	0.71900	0.35215	D	AEFBI	0.103335	0.20706	N	-0.26063306178762	0.30680	1.713019	-0.121544618188335	0.34523	1.986769	0.00824028543392635	0.11637	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.96	2.99	0.33673	1.442000	0.34656	2.413000	0.32651	0.676000	0.76740	0.998000	0.41325	0.939000	0.28734	0.997000	0.79791	0.2858:0.0:0.7142:0.0	7.358	0.25902	793	0.45818	PAZ domain|PAZ domain|PAZ 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	0.023162	0.005051	0.021739	0.032164	0.000000	0.051724	0.024390	0.022727	0.1	3411.12	33	chr11	94589192	.	G	A	3411.12	.	AC=2;AF=0.1;AN=20;DP=447;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.19;SOR=0.743	GT:AD:DP:GQ:PL	1/1:0,121:121:99:3434,363,0	9	1	0	0
chr11	99845260	99845260	C	T	exonic	CNTN5	.	nonsynonymous SNV	CNTN5:NM_175566:exon3:c.C353T:p.A118V,CNTN5:NM_001243270:exon5:c.C575T:p.A192V,CNTN5:NM_001243271:exon6:c.C575T:p.A192V,CNTN5:NM_014361:exon6:c.C575T:p.A192V	.	432	1088	1	1	0	3	0.00137678	0.9997	0.822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.0955801995685	.	.	0.0001	0.0001	8.679e-05	0	0	0	0	0.0007	7.76e-05	12	154602	rs201449127	5.857e-05	6.157e-05	2.469e-05	9.279e-05	0.0009	4.845e-05	4.464e-05	0.0007	0.0007	0	0	0	0	0	0	7.234e-06	5.009e-05	0.0009	1.984e-05	1.975e-05	0	4.068e-05	0.0004	5.27e-06	2.46e-06	7.35e-05	3.051e-05	0	0	0	0	0	0	0	1.473e-05	0	0.0004	0.002	0.72154	D	0.003	0.76473	D	0.95	0.53885	P	0.147	0.37837	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.57	0.75187	M	1.11	0.38883	T	-2.99	0.62151	D	0.878	0.88577	-0.4209	0.71363	T	0.188	0.53871	T	10	0.4104154	0.56185	T	0.09558	0.76453	D	0.414	0.72479	0.556	0.67409	0.631027719221	0.62800	0.5996038817020767	0.59891	0.0567399249057	0.06275	0.647275149822	0.59599	T	0.615514	0.87875	D	-0.0213148	0.48666	T	0.0980487	0.76779	D	0.326015305008018	0.26064	T	0.986201	0.95317	D	0.6373848	0.74691	0.5720943	0.75218	0.6373848	0.74693	0.5720943	0.75219	-10.546	0.77111	D	.	.	0.553	0.67923	A	.;.;.;.;.;.	.;.;.;.;.;.	4.774215	0.77316	26.7	0.99824228292793638	0.90677	0.98735	0.86182	D	AEFI	0.946582	0.95619	D	0.748562222664447	0.82811	7.85587	0.763226955883042	0.87144	9.121162	0.999992115374766	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	7.507000	0.80548	7.541000	0.60087	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.031	0.92935	925	0.17918	.;Immunoglobulin subtype;Immunoglobulin subtype;.;Immunoglobulin subtype;Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	521.43	33	chr11	99845260	.	C	T	521.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.031;DP=350;ExcessHet=0;FS=8.939;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.29;ReadPosRankSum=-0.48;SOR=0.051	GT:AD:DP:GQ:PL	0/1:13,19:32:99:533,0,417	9	0	1	0
chr11	103358271	103358271	G	A	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001377:exon83:c.G12068A:p.R4023K,DYNC2H1:NM_001080463:exon84:c.G12089A:p.R4030K	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	.	.	.	.	.	.	.	.	.	.	799634	not_specified|Inborn_genetic_diseases|Jeune_thoracic_dystrophy	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.178	0.0272656831164	.	.	0.0002	0.0011	0.0011	0	0	5.258e-05	0	0	8.41e-05	13	154602	rs771264933	4.807e-05	5.678e-05	4.835e-05	4.778e-05	0.0004	3.863e-05	3.54e-05	0.0002	0.0002	0.0004	0.0004	0.0009	0	0	0.0003	1.002e-05	8.416e-05	0	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0003	0.0006	0	0	0	0	0	0	0.395	0.29029	T	0.606	0.92824	T	0.0	0.02946	B	0.005	0.11217	B	0.000002	0.62929	D	0.000000	1	0.81001	D	2.135	0.59519	M	3.16	0.48769	T	-1.38	0.50666	N	0.25	0.28264	-0.8870	0.49189	T	0.139	0.45678	T	10	0.09110901	0.15931	T	0.027266	0.50098	D	0.178	0.44724	.	.	0.639407458861	0.63643	0.4883942403694956	0.48759	0.0628276050667	0.06995	0.564874649048	0.47954	T	0.048919	0.28156	T	-0.235924	0.15873	T	-0.194697	0.55149	T	0.0810355440661545	0.10119	T	0.713829	0.32570	T	0.3473256	0.56858	0.32049865	0.58004	0.3473256	0.56859	0.32049865	0.58003	-2.876	0.08906	T	0.6347491924356496	0.70461	0.119	0.25527	B	.;.;.;.;.	.;.;.;.;.	3.574991	0.50375	22.9	0.94119386401252869	0.24296	0.97503	0.75172	D	AEFI	0.856308	0.77353	D	0.00157685030086278	0.41927	2.516725	0.182073601179569	0.48866	3.096823	0.999999927590384	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.44	5.44	0.79348	7.695000	0.83490	.	.	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.448000	0.27851	0.0:0.0:1.0:0.0	18.029	0.89202	698	0.58074	Dynein heavy chain domain;Dynein heavy chain domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	587.43	35	chr11	103358271	.	G	A	587.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.56;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-1.015;SOR=0.688	GT:AD:DP:GQ:PL	0/1:30,25:55:99:599,0,768	9	0	1	0
chr11	126445065	126445065	C	T	exonic	KIRREL3	.	nonsynonymous SNV	KIRREL3:NM_001161707:exon10:c.G1166A:p.R389H,KIRREL3:NM_001301097:exon10:c.G1166A:p.R389H,KIRREL3:NM_032531:exon10:c.G1166A:p.R389H	Mental retardation, autosomal dominant 4	0	1515	7	0	0	7	0.00230491	.	.	.	373950	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.162	0.0128178865906	.	0.000399361	0.0008	0	0.0003	0	0.0002	0.0002	0	0.0048	0.0006662	103	154602	rs562824080	0.0004	0.0004	0.0003	0.0006	0.0047	0.0004	0.0004	0.0043	0.0042	8.961e-05	0.0002	0	0	0	0.0009	0.0002	0.0005	0.0047	0.0002	0.0002	0.0001	0.0004	0.0043	0.0002	0.0002	0.0029	0.0024	0.0001	0	6.532e-05	0	0	0	0	0.0001	0.0005	0.0043	0.133	0.28646	T	0.074	0.46182	T	1.0	0.90584	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	0.999354	0.46766	D	1.665	0.42610	L	1.55	0.29866	T	-1.78	0.42001	N	0.664	0.70527	-0.9420	0.42298	T	0.149	0.47628	T	10	0.0127593875	0.00273	T	0.012818	0.31723	T	0.162	0.41843	.	.	0.228066490088	0.22430	0.4689616031334942	0.46815	1.40417438636	0.85273	0.684793114662	0.64957	T	0.062236	0.31865	T	-0.414815	0.01847	T	-0.367538	0.37177	T	0.0481697862251268	0.05175	T	0.916908	0.70254	D	0.2983009	0.52752	0.2475887	0.50292	0.35695	0.57603	0.24496984	0.49974	-9.24	0.69229	D	.	.	0.099	0.18164	B	.;.;.	.;.;.	5.304687	0.89052	29.8	0.99950550725095433	0.99944	0.93341	0.57958	D	AEFBI	0.619801	0.60510	D	0.590058241183142	0.72555	5.823991	0.603661948312344	0.75206	6.269616	0.999867103023605	0.44398	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.26	5.26	0.73479	4.045000	0.57081	5.939000	0.51448	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.820	0.92059	963	0.08280	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	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	2625.14	33	chr11	126445065	.	C	T	2625.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.996;DP=567;ExcessHet=0.2348;FS=0.439;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=1.16;SOR=0.683	GT:AD:DP:GQ:PL	0/1:61,55:116:99:1217,0,1438	8	0	2	0
chr11	134342853	134342853	G	A	exonic	GLB1L2	.	stopgain	GLB1L2:NM_001370460:exon2:c.G186A:p.W62X,GLB1L2:NM_001370461:exon2:c.G186A:p.W62X,GLB1L2:NM_001370462:exon2:c.G186A:p.W62X,GLB1L2:NM_001370463:exon2:c.G186A:p.W62X,GLB1L2:NM_138342:exon2:c.G186A:p.W62X	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	.	.	0.000599042	0.0004	0	0	0	0	0	0.0011	0.0031	0.0003558	55	154602	rs544621781	0.0001	0.0001	6.943e-05	0.0002	0.0024	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0	8.993e-07	6.624e-05	0.0024	9.191e-05	9.185e-05	7.709e-05	0.0001	0.0029	5.523e-05	4.361e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	0.269099	0.15163	N	0.662593	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239217	0.77587	D	0.566539	0.96104	D	0.237713391762961	0.22313	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	8.536474	0.97688	38	0.98845281799278706	0.47203	0.78542	0.38765	D	AEFDBI	0.241574	0.36317	N	0.731058291936168	0.81668	7.576577	0.508839132496045	0.68584	5.240195	0.854843046727537	0.25113	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.72	4.72	0.59248	0.619000	0.24083	1.554000	0.27312	0.676000	0.76740	0.999000	0.42656	0.921000	0.28324	0.794000	0.37478	0.0831:0.2353:0.6815:0.0	8.662	0.33261	964	0.07719	Glycoside hydrolase 35, catalytic domain;Glycoside hydrolase 35, catalytic 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	.	.	.	.	.	.	.	.	0.05	1575.43	36	chr11	134342853	.	G	A	1575.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.156;DP=445;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.281;SOR=0.722	GT:AD:DP:GQ:PL	0/1:58,69:127:99:1587,0,1218	9	0	1	0
chr12	5045880	5045880	G	A	exonic	KCNA5	.	nonsynonymous SNV	KCNA5:NM_002234:exon1:c.G1733A:p.R578K	Atrial fibrillation, familial, 7, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	189357	not_provided|not_specified|Atrial_fibrillation,_familial,_7|Brugada_syndrome_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012828,MedGen:C2677106,OMIM:612240|MONDO:MONDO:0011001,MedGen:C4551804,OMIM:601144,Orphanet:130	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.232	.	0.0073	0.00319489	0.0054	0.0032	0.0044	0	0.0012	0.0083	0.0022	0.0006	0.0059184	915	154602	rs12720445	0.0091	0.0091	0.0094	0.0088	0.0112	0.0090	0.0089	0.0110	0.0110	0.0016	0.0046	0.0007	0	0.0008	0.0014	0.0112	0.0072	0.0005	0.0059	0.0059	0.0065	0.0053	0.0097	0.0056	0.0055	0.0091	0.0088	0.0022	0.0537	0.0047	0	0	0.0010	0	0.0097	0.0076	0.0002	0.034	0.44029	D	0.467	0.12351	T	0.001	0.07471	B	0.002	0.06944	B	0.028022	0.25665	U	0.285392	0.998303	0.22236	N	2.14	0.59869	M	-4.37	0.97343	D	0.16	0.05217	N	0.188	0.20528	-0.1728	0.78360	T	0.720	0.90382	D	10	0.007783413	0.00177	T	.	.	.	0.232	0.53354	.	.	0.999741823116	0.99973	0.16057698210699195	0.15978	0.642789163195	0.57839	0.417012035847	0.27426	T	0.206817	0.56627	T	-0.260844	0.12801	T	-0.136429	0.60426	T	0.00380054392776235	0.00040	T	0.558744	0.19484	T	0.20395814	0.42489	0.15977775	0.37247	0.20395814	0.42489	0.15977775	0.37246	-4.196	0.26694	T	.	.	0.088	0.11461	B	.	.	2.438513	0.31384	18.72	0.96580960013629913	0.30333	0.60035	0.31081	D	AEFDGBI	0.228213	0.35192	N	-0.348400938143617	0.27330	1.498663	-0.223004349494425	0.30714	1.731695	0.199068840110619	0.18099	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.542086	0.14980	0	.	.	4.76	4.76	0.60189	1.772000	0.38182	7.265000	0.57972	0.590000	0.31872	0.908000	0.31627	1.000000	0.68203	0.344000	0.25523	0.1699:0.0:0.8301:0.0	8.84	0.34294	683	0.59664	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	2557.43	36	chr12	5045880	.	G	A	2557.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.018;DP=557;ExcessHet=0;FS=1.736;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.032;SOR=0.839	GT:AD:DP:GQ:PL	0/1:100,101:201:99:2569,0,2460	9	0	1	0
chr12	6826801	6826801	A	G	exonic	GPR162	.	nonsynonymous SNV	GPR162:NM_014449:exon5:c.A512G:p.Y171C,GPR162:NM_019858:exon5:c.A1364G:p.Y455C	.	417	1088	16	1	0	18	0.00820419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	.	.	0.0153754	0.0087	0.0003	0.0003	0	0	0.0002	0.0058	0.0702	0.0076648	1185	154602	rs200776021	0.0039	0.0040	0.0022	0.0056	0.0609	0.0038	0.0038	0.0595	0.0590	0.0002	0.0002	0.0005	0.0001	1.882e-05	0.0017	0.0002	0.0045	0.0609	0.0023	0.0023	0.0012	0.0035	0.0699	0.0021	0.0021	0.0638	0.0614	0.0002	0	0.0001	0.0006	0.0002	0	0	7.352e-05	0.0009	0.0699	0.011	0.55530	D	0.121	0.46182	T	0.964	0.55854	D	0.431	0.45421	B	.	.	.	.	0.924275	0.28162	N	0.975	0.24501	L	3.07	0.44856	T	-0.93	0.45769	N	0.222	0.34659	-1.0747	0.08410	T	0.073	0.29643	T	9	0.0024323761	0.00036	T	.	.	.	0.131	0.35738	.	.	0.705647642926	0.70308	0.36747106216787534	0.36661	0.0129100740628	0.01244	0.549777626991	0.45826	T	0.017868	0.14505	T	-0.388125	0.02765	T	-0.283955	0.46397	T	0.0392571802638366	0.03555	T	0.814119	0.47860	T	0.092583135	0.21723	0.097328715	0.23163	0.092583135	0.21723	0.097328715	0.23162	-3.257	0.13189	T	.	.	0.143	0.42706	B	.;.;.	.;.;.	3.280760	0.44954	22.0	0.97989335285926371	0.37386	0.90365	0.51483	D	AEFDBI	0.486598	0.52570	N	0.05883314964417	0.44549	2.726987	0.111857592802175	0.45154	2.783664	0.999996469712339	0.74766	0.700653	0.57754	0	0.596491	0.49125	0	0.717052	0.78885	0	0.604944	0.38103	0	.	.	4.24	4.24	0.49486	1.749000	0.37946	9.283000	0.79730	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.776000	0.36750	0.7533:0.0:0.0:0.2467	7.494	0.26650	549	0.72275	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.018939	0.05	502.43	41	chr12	6826801	.	A	G	502.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.1;DP=432;ExcessHet=0;FS=1.204;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.471;SOR=0.655	GT:AD:DP:GQ:PL	0/1:22,19:41:99:514,0,532	9	0	1	0
chr12	7136265	7136265	A	G	exonic	CLSTN3	.	nonsynonymous SNV	CLSTN3:NM_014718:exon6:c.A802G:p.I268V	.	428	1089	4	1	0	6	0.00274725	.	.	.	3429338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.00515001641632	.	0.000199681	0.0002	0	0	0	0	2.999e-05	0.0011	0.0010	0.0001294	20	154602	rs751947010	9.03e-05	9.029e-05	5.581e-05	0.0001	0.0013	7.756e-05	7.299e-05	0.0011	0.0011	0	0	0	0	1.872e-05	0	8.094e-06	0.0001	0.0013	3.939e-05	3.937e-05	1.285e-05	6.711e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.203	0.20154	T	0.218	0.26066	T	0.046	0.21875	B	0.041	0.23986	B	0.000002	0.62929	D	0.059241	0.969257	0.38715	D	0.95	0.23787	L	2.05	0.20664	T	-0.01	0.07155	N	0.412	0.45237	-1.0732	0.08724	T	0.036	0.15422	T	10	0.04072392	0.02665	T	0.00515	0.13094	T	0.080	0.23350	.	.	0.326275561783	0.32232	0.23090873982282684	0.23005	0.216791673698	0.24200	0.6253516078	0.56486	T	0.01929	0.15396	T	-0.421164	0.01681	T	-0.42819	0.30141	T	0.0788285926661931	0.09837	T	0.889911	0.62289	D	0.06817968	0.14832	0.059710868	0.11252	0.06817968	0.14832	0.059710868	0.11251	-4.036	0.24341	T	.	.	0.120	0.24633	B	.	.	2.833467	0.37365	20.5	0.98677865255441255	0.44568	0.90368	0.51488	D	AEFGBI	0.198447	0.32531	N	-0.238043491055891	0.31582	1.772418	-0.0447828483355448	0.37718	2.212173	0.999874981006185	0.44625	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.82	4.64	0.57399	3.938000	0.56295	11.163000	0.87713	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.8576:0.1424:0.0:0.0	12.228	0.53782	681	0.59854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1561.43	35	chr12	7136265	.	A	G	1561.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.61;DP=499;ExcessHet=0;FS=1.972;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=0.407;SOR=0.862	GT:AD:DP:GQ:PL	0/1:97,66:163:99:1573,0,2284	9	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	.	.	.	.	.	.	.	.	0.05	769.43	33	chr12	7306539	.	G	A	769.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.064;DP=361;ExcessHet=0;FS=6.157;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.365;SOR=1.681	GT:AD:DP:GQ:PL	0/1:32,27:59:99:781,0,849	9	0	1	0
chr12	10179599	10179599	G	T	exonic	TMEM52B	.	nonsynonymous SNV	TMEM52B:NM_001384896:exon1:c.G25T:p.A9S,TMEM52B:NM_001384897:exon1:c.G25T:p.A9S,TMEM52B:NM_153022:exon1:c.G9T:p.W3C,TMEM52B:NM_001079815:exon2:c.G25T:p.A9S,TMEM52B:NM_001384895:exon2:c.G25T:p.A9S,TMEM52B:NM_001384898:exon2:c.G9T:p.W3C,TMEM52B:NM_001384894:exon4:c.G25T:p.A9S	.	434	1083	5	0	0	5	0.00230309	.	.	.	3610573	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.0020361715937	0.0002	0.000199681	0.0004	9.61e-05	8.637e-05	0	0.0008	0.0004	0.0011	0.0007	0.0003363	52	154602	rs140071448	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0006	0.0004	2.987e-05	8.944e-05	0	0	0.0009	0.0012	0.0002	0.0004	0.0006	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	7.217e-05	0	0.0001	0	0	0.0009	0	0.0003	0	0.0002	0.127	0.27080	T	0.515	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.379462	0.04411	N	1.353820	1	0.08975	N	.	.	.	.	.	.	0.4	0.03463	N	0.071	0.04426	-1.0014	0.29516	T	0.063	0.26065	T	8	0.015441507	0.00324	T	0.002036	0.03695	T	0.056	0.15993	.	.	0.0401082797425	0.02173	0.2923392038243375	0.29146	.	.	.	.	.	0.001076	0.00595	T	-0.58351	0.00183	T	-0.711786	0.05204	T	0.0269930492029912	0.01543	T	0.238576	0.03390	T	0.04448323	0.07120	0.0794368	0.17883	0.04448323	0.07119	0.0794368	0.17883	-3.33	0.14126	T	.	.	0.077	0.06205	B	.;.	.;.	-1.388582	0.00368	0.007	0.57950219426494087	0.05883	0.02482	0.06953	N	AEFDGBCI	0.064454	0.12515	N	-1.43044973298783	0.02375	0.1047974	-1.531558342514	0.02105	0.0963412	0.99999954439006	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.3	-5.3	0.02527	-0.495000	0.06524	-0.569000	0.08436	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3682:0.0:0.3801:0.2518	4.774	0.12540	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.1	2234.12	34	chr12	10179599	.	G	T	2234.12	.	AC=2;AF=0.1;AN=20;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=27.58;SOR=0.718	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2257,243,0	9	1	0	0
chr12	40308618	40308618	A	G	exonic	LRRK2	.	nonsynonymous SNV	LRRK2:NM_198578:exon29:c.A4111G:p.I1371V	.	0	1517	4	1	0	6	0.00197368	.	.	.	47782	Autosomal_dominant_Parkinson_disease_8|not_provided	MONDO:MONDO:0011764,MedGen:C1846862,OMIM:607060,Orphanet:411602|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.453	0.0335221870814	0.0006	0.00119808	0.0010	0.0007	0.0003	0.0005	0.0002	0.0005	0.0022	0.0044	0.0009314	144	154602	rs17466213	0.0008	0.0008	0.0008	0.0009	0.0041	0.0008	0.0008	0.0038	0.0036	0.0002	0.0005	0.0002	0.0001	3.745e-05	0.0016	0.0007	0.0009	0.0041	0.0007	0.0007	0.0007	0.0006	0.0044	0.0006	0.0005	0.0029	0.0025	0.0005	0	0.0002	0	0.0002	0	0.0102	0.0007	0.0009	0.0044	0.438	0.09319	T	0.155	0.31936	T	0.293	0.32367	B	0.155	0.34417	B	0.000000	0.84330	D	0.050107	0.999984	0.54805	D	0.425	0.12573	N	-1.34	0.79944	T	-0.31	0.12099	N	0.76	0.75834	-0.6205	0.63968	T	0.304	0.67529	T	10	0.017168522	0.00365	T	0.033522	0.55037	D	0.453	0.75279	.	.	.	.	0.5195773157240728	0.51880	0.432461727185	0.43422	0.54245108366	0.44791	T	0.135389	0.46717	T	-0.120951	0.32968	T	0.0526471	0.73759	D	0.0174098161126799	0.00479	T	0.841716	0.51747	T	0.3371646	0.56053	0.32380006	0.58309	0.29727426	0.52658	0.31154397	0.57160	-6.042	0.46629	T	0.2257884130344001	0.30509	0.139	0.30423	B	.	.	2.571027	0.33319	19.30	0.99016912086365916	0.50484	0.92902	0.56828	D	AEFI	0.716227	0.66813	D	-0.113500431814409	0.36805	2.132383	0.0773266853195519	0.43410	2.643377	0.648756897176261	0.22138	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	5.254000	0.65274	11.007000	0.84821	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	1.0:0.0:0.0:0.0	15.410	0.74631	788	0.46569	Roc domain|Small GTP-binding protein 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	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2217.43	34	chr12	40308618	.	A	G	2217.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.502;DP=526;ExcessHet=0;FS=3.216;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.957;SOR=0.687	GT:AD:DP:GQ:PL	0/1:94,103:197:99:2229,0,2113	9	0	1	0
chr12	40483517	40483517	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0316737595694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.905e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.626e-05	0.0003	1.695e-05	3.619e-05	0.0003	6.98e-06	2.94e-06	.	.	0	0	0.0001	0	0	0.0001	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	340.43	726	chr12	40483517	.	G	A	340.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=7726;ExcessHet=0;FS=3.847;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.82;MQRankSum=-30.06;QD=0.31;ReadPosRankSum=-3.712;SOR=1.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1013,81:1094:99:1|0:40483491_G_A:352,0,42281:40483491	9	0	1	0
chr12	40483522	40483522	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172100976637	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191481396	1.206e-06	3.566e-05	0	2.611e-06	.	0	0	.	.	0	0	0	0	0	0	0	3.679e-05	0	3.585e-05	0.0004	2.804e-05	4.401e-05	0.0002	1.348e-05	8.61e-06	.	.	0	0	7.239e-05	0	0.0002	0.0001	0	1.573e-05	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	.	.	.	.	.	.	.	.	0.05	385.43	726	chr12	40483522	.	G	A	385.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=7726;ExcessHet=0;FS=3.847;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.8;MQRankSum=-30.09;QD=0.35;ReadPosRankSum=8.92;SOR=1.464	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1012,82:1094:99:1|0:40483491_G_A:397,0,42236:40483491	9	0	1	0
chr12	40486500	40486500	C	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1720.25	923	chr12	40486500	.	C	*	1720.25	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.871;DP=10569;ExcessHet=4.5998;FS=15.379;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.25;MQ=56.54;MQRankSum=4.74;QD=0.31;ReadPosRankSum=-4.885;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:628,501:1129:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:19208,0,24753:40486484	5	0	5	0
chr12	40486506	40486506	A	0	exonic	MUC19	.	.	.	.	600	654	129	2	137	270	0.092297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1680.87	923	chr12	40486506	.	A	*	1680.87	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.05;DP=10709;ExcessHet=4.5998;FS=15.598;InbreedingCoeff=-0.6667;MLEAC=6;MLEAF=0.5;MQ=56.69;MQRankSum=4.55;QD=0.3;ReadPosRankSum=-7.683;SOR=1.22	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:628,501:1129:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:19208,0,24753:40486484	1	0	5	4
chr12	40486507	40486507	G	0	exonic	MUC19	.	.	.	.	596	657	130	2	137	271	0.0925414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1677.87	923	chr12	40486507	.	G	*	1677.87	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.013;DP=10710;ExcessHet=4.5998;FS=15.598;InbreedingCoeff=-0.6667;MLEAC=6;MLEAF=0.5;MQ=56.7;MQRankSum=4.54;QD=0.3;ReadPosRankSum=-8.034;SOR=1.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:628,501:1129:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:19208,0,24753:40486484	1	0	5	4
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1626.87	923	chr12	40486514	.	G	*	1626.87	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.88;DP=10703;ExcessHet=4.5998;FS=15.453;InbreedingCoeff=-0.6667;MLEAC=6;MLEAF=0.5;MQ=57.06;MQRankSum=4.22;QD=0.29;ReadPosRankSum=-9.992;SOR=1.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:628,501:1129:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:19208,0,24753:40486484	1	0	5	4
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	31329.3	901	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	31329.3	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.48;DP=10334;ExcessHet=15.1594;FS=3.513;InbreedingCoeff=-0.8182;MLEAC=8;MLEAF=0.4;MQ=56.49;MQRankSum=-24.25;QD=5.99;ReadPosRankSum=4.67;SOR=1.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:936,48:984:99:.:.:6181,0,38619:.	2	0	8	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	30359.1	877	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	30359.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.166;DP=10267;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=6;MLEAF=0.3;MQ=56.51;MQRankSum=-21.55;QD=5.08;ReadPosRankSum=-1.513;SOR=0.882	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:950,33:983:99:.:.:5526,0,38576:.	4	0	6	0
chr12	40488195	40488195	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	565	955	2	0	0	2	0.00104603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1322582666	6.813e-05	0.0011	7.455e-05	6.067e-05	0.0001	5.265e-05	4.759e-05	4.87e-05	4.337e-05	0.0001	0	0.0002	0	0	0	6.427e-05	0.0001	7.368e-05	6.982e-06	0.0005	0	1.433e-05	1.568e-05	0	0	.	.	0	0	0	0	0	0	0	1.568e-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	.	.	.	.	.	.	.	.	0.05	98.43	840	chr12	40488195	.	C	T	98.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.674;DP=5226;ExcessHet=0;FS=6.021;InbreedingCoeff=-0.0516;MLEAC=1;MLEAF=0.05;MQ=34.09;MQRankSum=1.15;QD=24.61;ReadPosRankSum=-0.674;SOR=2.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,3:4:33:0|1:40488195_C_T:110,0,33:40488195	9	0	1	0
chr12	40488197	40488197	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.883e-05	0.0012	8.201e-05	7.513e-05	0.0001	6.206e-05	5.682e-05	5.617e-05	5.068e-05	0.0001	0	0.0007	0	0	0	7.304e-05	0.0001	7.377e-05	0	0.0003	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	.	.	.	.	.	.	.	.	0.05	98.43	840	chr12	40488197	.	A	G	98.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.967;DP=5226;ExcessHet=0;FS=6.021;InbreedingCoeff=-0.0516;MLEAC=1;MLEAF=0.05;MQ=34.97;MQRankSum=1.15;QD=24.61;ReadPosRankSum=-0.431;SOR=2.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,3:4:33:0|1:40488195_C_T:110,0,33:40488195	9	0	1	0
chr12	40488992	40488993	AG	-	exonic	MUC19	.	unknown	UNKNOWN	.	566	952	1	3	0	7	0.003663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343256137	0.0002	0.0008	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0	0	0.0002	0	0.0042	0.0007	0.0002	0.0002	0.0003	7.465e-06	0.0006	1.451e-05	0	7.2e-05	0	0	.	.	0	0	7.2e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	144.39	768	chr12	40488991	.	TAG	T	144.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.366;DP=4627;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=36.17;MQRankSum=-1.465;QD=18.05;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,4:8:99:0|1:40488954_T_C:156,0,156:40488954	9	0	1	0
chr12	40488994	40488994	-	AA	exonic	MUC19	.	unknown	UNKNOWN	.	571	947	1	3	0	7	0.00368227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283506347	0.0002	0.0008	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	6.558e-05	0	0.0002	0	0	0.0007	0.0002	0.0002	0.0003	7.746e-06	0.0007	1.501e-05	0	7.523e-05	0	0	.	.	0	0	7.523e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	103.01	768	chr12	40488994	.	G	GAA	103.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=2.19;DP=4628;ExcessHet=0;FS=0;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=36.47;MQRankSum=-1.465;QD=14.72;ReadPosRankSum=0.697;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,3:7:99:0|1:40488954_T_C:114,0,159:40488954	8	0	1	1
chr12	40489002	40489002	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	564	954	2	2	0	6	0.0031348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1236214112	8.775e-05	0.0002	8.782e-05	8.767e-05	9.298e-05	7.052e-05	6.424e-05	7.424e-05	6.746e-05	0	0	0	0	0	0	9.298e-05	4.134e-05	7.532e-05	5.173e-05	0.0011	6.699e-05	3.554e-05	0.0003	2.156e-05	1.519e-05	6.34e-06	2.37e-06	3.03e-05	0	8.193e-05	0	0.0003	0	0	3.823e-05	0.0006	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	61.05	768	chr12	40489002	.	A	G	61.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.83;DP=4627;ExcessHet=0;FS=0;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=36.86;MQRankSum=-1.282;QD=10.18;ReadPosRankSum=1.83;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:40488954_T_C:72,0,162:40488954	8	0	1	1
chr12	40489005	40489005	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	570	948	2	2	0	6	0.00315457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1262472034	8.093e-05	0.0002	8.022e-05	8.176e-05	8.554e-05	6.395e-05	5.862e-05	6.708e-05	6.133e-05	0	0	0	0	0	0	8.554e-05	4.128e-05	7.514e-05	8.49e-06	0.0005	1.65e-05	0	8.201e-05	0	0	.	.	0	0	8.201e-05	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	.	.	.	.	.	.	.	.	0.05556	61.05	768	chr12	40489005	.	G	T	61.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.967;DP=4627;ExcessHet=0;FS=0;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=36.86;MQRankSum=-1.282;QD=10.18;ReadPosRankSum=1.83;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:40488954_T_C:72,0,162:40488954	8	0	1	1
chr12	40489087	40489087	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	611	871	12	28	0	68	0.0375691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1197637289	0	1.536e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0074	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	0.0002	0	0.0004	0.0004	0	0.0004	0	0.0003	0	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	.	.	.	.	.	.	.	.	0.15	275.37	768	chr12	40489087	.	C	G	275.37	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.282;DP=4284;ExcessHet=0;FS=7.782;InbreedingCoeff=0.5024;MLEAC=2;MLEAF=0.1;MQ=34.4;MQRankSum=-1.383;QD=34.42;ReadPosRankSum=-0.842;SOR=4.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,5:6:27:1|0:40489023_G_T:207,0,27:40489023	8	1	1	0
chr12	40489098	40489098	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	624	863	11	24	0	59	0.0330532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs186762951	0	9.509e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0021	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	0.0002	0	0.0005	0	0	0.0003	0	7.71e-05	0.0006	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	.	.	.	.	.	.	.	.	0.1	187.15	768	chr12	40489098	.	T	C	187.15	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.15;DP=4283;ExcessHet=0.2348;FS=13.222;InbreedingCoeff=-0.0943;MLEAC=2;MLEAF=0.1;MQ=36;MQRankSum=0.967;QD=26.74;ReadPosRankSum=0.967;SOR=3.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,3:4:33:1|0:40489023_G_T:123,0,33:40489023	8	0	2	0
chr12	40489579	40489788	TGGACTATCAACTGGGGTGACAGGGATAGCTGGACACTCAGCTGCGGTGACAGGGATAACTAGACCATCAGCTGGAGTGACAGGGACAACCACAGTATCAGCTGGAGTAACAGGGACAATTGGACTATCAGCTGAAGCAACAGGGATAACTCTACCATCAGCTGGGGTGACAGAGACAACTGGACTATCTGCTGGAGTGACAGAAACAAT	-	exonic	MUC19	.	unknown	UNKNOWN	.	559	962	1	0	0	1	0.000519481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.948e-06	4.802e-06	4.602e-06	5.349e-06	5.409e-06	1.16e-06	7.8e-07	1.27e-06	8.5e-07	0	0	0	0	0	0	5.409e-06	0	0	0	3.352e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1431.01	732	chr12	40489578	.	CTGGACTATCAACTGGGGTGACAGGGATAGCTGGACACTCAGCTGCGGTGACAGGGATAACTAGACCATCAGCTGGAGTGACAGGGACAACCACAGTATCAGCTGGAGTAACAGGGACAATTGGACTATCAGCTGAAGCAACAGGGATAACTCTACCATCAGCTGGGGTGACAGAGACAACTGGACTATCTGCTGGAGTGACAGAAACAAT	C	1431.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.627;DP=4888;ExcessHet=0;FS=3.655;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=44.8;MQRankSum=-6.986;QD=11.45;ReadPosRankSum=-8.731;SOR=1.021	GT:AD:DP:GQ:PL	0/1:37,88:125:99:1442,0,1105	8	0	1	1
chr12	40489602	40489602	G	0	exonic	MUC19	.	.	.	.	586	533	254	148	1	551	0.340347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	46355.3	751	chr12	40489602	.	G	*	46355.3	.	AC=1;AF=0.056;AN=18;BaseQRankSum=3.7;DP=4754;ExcessHet=0.2065;FS=0.539;InbreedingCoeff=0.1223;MLEAC=1;MLEAF=0.056;MQ=59.88;MQRankSum=1.06;QD=22.18;ReadPosRankSum=1.63;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,88:125:99:.:.:1442,0,1105:.	8	0	1	1
chr12	40489723	40489723	G	0	exonic	MUC19	.	.	.	.	636	835	24	18	9	69	0.0346821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	17688.4	733	chr12	40489723	.	G	*	17688.4	.	AC=1;AF=0.056;AN=18;DP=4276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;QD=25.78;SOR=0.666	GT:AD:DP:GQ:PL	0/1:37,88:125:99:1442,0,1105	8	0	1	1
chr12	40489783	40489783	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	98602.4	798	chr12	40489783	.	A	*	98602.4	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.183;DP=4862;ExcessHet=0.7957;FS=0;InbreedingCoeff=0.0476;MLEAC=1;MLEAF=0.056;MQ=59.88;MQRankSum=-1.988;QD=23.61;ReadPosRankSum=1.2;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,88:125:99:.:.:1442,0,1105:.	8	0	1	1
chr12	40493981	40493998	AGCTGAAGGTGAAAGCAT	-	exonic	MUC19	.	unknown	UNKNOWN	.	571	947	4	0	0	4	0.00210748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs753539367	0.0013	0.0008	0.0013	0.0012	0.0041	0.0012	0.0012	0.0016	0.0012	0.0002	0.0041	0.0008	0	0	0.0037	0.0013	0.0010	0.0010	0.0009	0.0009	0.0009	0.0009	0.0014	0.0008	0.0007	0.0011	0.0010	0.0004	0	0.0014	0.0009	0	9.416e-05	0	0.0013	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	939.39	35	chr12	40493980	.	GAGCTGAAGGTGAAAGCAT	G	939.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.872;DP=354;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.85;ReadPosRankSum=1.99;SOR=0.892	GT:AD:DP:GQ:PL	0/1:19,24:43:99:951,0,725	9	0	1	0
chr12	40509053	40509053	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	561	887	71	3	0	77	0.0415991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796340531	3.486e-05	0.0002	3.413e-05	3.563e-05	.	5.78e-06	2.16e-06	.	.	0	0	0	0	0.0004	0	0	0	0	5.923e-05	0.0006	5.149e-05	6.731e-05	0.0002	3.081e-05	2.213e-05	6.279e-05	4.297e-05	0.0001	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	649.82	33	chr12	40509053	.	T	A	649.82	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.69;DP=1506;ExcessHet=0.2348;FS=1.31;InbreedingCoeff=-0.2903;MLEAC=3;MLEAF=0.3;MQ=59.26;MQRankSum=-12.3;QD=1.71;ReadPosRankSum=3.27;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,20:196:99:0|1:40509053_T_A:310,0,7310:40509053	3	0	2	5
chr12	40509056	40509056	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	559	887	73	3	0	79	0.0426336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305621476	1.742e-05	0.0002	0	3.572e-05	.	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0005	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	.	.	.	.	.	.	.	.	0.2	640.82	33	chr12	40509056	.	G	A	640.82	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.08;DP=1499;ExcessHet=0.2348;FS=1.3;InbreedingCoeff=-0.2903;MLEAC=3;MLEAF=0.3;MQ=59.25;MQRankSum=-12.3;QD=1.68;ReadPosRankSum=3.28;SOR=0.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,20:199:99:0|1:40509053_T_A:301,0,7436:40509053	3	0	2	5
chr12	40509061	40509061	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	891	71	3	0	77	0.0414201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348486958	3.908e-05	0.0002	3.806e-05	4.015e-05	2.421e-05	6.48e-06	2.42e-06	.	.	0	0	0	0	0.0002	0	2.421e-05	0	0	9.211e-05	0.0006	9.011e-05	9.421e-05	0.0003	5.535e-05	4.37e-05	0.0001	0.0001	0.0003	0	0.0002	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	528.9	33	chr12	40509061	.	G	C	528.9	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.35;DP=1520;ExcessHet=0.2348;FS=0.624;InbreedingCoeff=-0.2766;MLEAC=3;MLEAF=0.25;MQ=59.35;MQRankSum=-12.38;QD=1.36;ReadPosRankSum=3.41;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,19:202:99:0|1:40509053_T_A:247,0,7627:40509053	4	0	2	4
chr12	40509062	40509062	A	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	890	72	3	0	78	0.0419806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239171133	3.865e-05	0.0002	3.759e-05	3.976e-05	2.401e-05	6.41e-06	2.4e-06	.	.	0	0	0	0	0.0002	0	2.401e-05	0	0	0	0.0004	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	.	.	.	.	.	.	.	.	0.1667	492.9	33	chr12	40509062	.	A	C	492.9	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.04;DP=1521;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.2766;MLEAC=3;MLEAF=0.25;MQ=59.4;MQRankSum=-12.25;QD=1.28;ReadPosRankSum=3.33;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,19:201:99:0|1:40509053_T_A:250,0,7585:40509053	4	0	2	4
chr12	40509076	40509076	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	553	907	60	2	0	64	0.0340788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796925819	3.366e-05	0.0002	6.615e-05	0	5.131e-05	0	0	.	.	0	0	0	0	0	0	5.131e-05	0	0	6.575e-06	0.0004	0	1.345e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-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	.	.	.	.	.	.	.	.	0.1667	283.98	33	chr12	40509076	.	G	A	283.98	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.44;DP=1516;ExcessHet=0.2348;FS=0.667;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.25;MQ=59.5;MQRankSum=-12.22;QD=0.74;ReadPosRankSum=2.14;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,16:196:90:0|1:40509076_G_A:90,0,7484:40509076	4	0	2	4
chr12	40509081	40509081	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	552	908	60	2	0	64	0.0340426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796068417	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	9.204e-05	0.0005	0.0001	8.068e-05	0.0003	5.531e-05	4.367e-05	0.0001	0.0001	0.0003	0	0.0002	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	.	.	.	.	.	.	.	.	0.2	288.82	33	chr12	40509081	.	T	C	288.82	.	AC=2;AF=0.2;AN=10;BaseQRankSum=3.44;DP=1504;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.2903;MLEAC=3;MLEAF=0.3;MQ=59.49;MQRankSum=-12.12;QD=0.76;ReadPosRankSum=1.76;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,16:198:84:0|1:40509076_G_A:84,0,7533:40509076	3	0	2	5
chr12	49272736	49272736	A	T	exonic	TUBA1C	.	nonsynonymous SNV	TUBA1C:NM_001303114:exon4:c.A1069T:p.T357S,TUBA1C:NM_032704:exon4:c.A859T:p.T287S,TUBA1C:NM_001303116:exon5:c.A754T:p.T252S,TUBA1C:NM_001303117:exon5:c.A754T:p.T252S,TUBA1C:NM_001303115:exon6:c.A754T:p.T252S	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0425553497617	0.0002	0.00119808	0.0004	0.0002	0.0004	0.0006	0.0002	0.0005	0	0.0002	0.0005763	15	26028	rs201310100	0.0009	0.0012	0.0010	0.0009	0.0010	0.0009	0.0009	0.0010	0.0010	0.0001	0.0007	0.0010	0.0005	0.0007	0.0002	0.0010	0.0008	0.0003	0.0009	0.0010	0.0009	0.0009	0.0014	0.0008	0.0008	0.0012	0.0011	0.0004	0	0.0009	0.0009	0.0014	0.0005	0	0.0014	0	0.0006	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.009	0.14300	B	0.006003	0.32339	N	0.275088	0.525882	0.31531	N	-1.15	0.00907	N	-1.8	0.83893	D	1.47	0.00765	N	0.02	0.00308	-0.8923	0.48731	T	0.151	0.47839	T	10	0.0078501105	0.00178	T	0.042555	0.60525	D	0.251	0.56024	0.38	0.39645	0.383609287871	0.37977	0.7743463970966473	0.77384	1.32921934275	0.83617	0.559234142303	0.47160	T	0.168054	0.52448	T	-0.219985	0.17994	T	-0.55377	0.16966	T	0.00135273094685827	0.00013	T	0.275172	0.19140	T	0.04480207	0.07226	0.048713833	0.07293	0.04480207	0.07226	0.048713833	0.07293	2.565	0.00031	T	.	.	0.061	0.05845	B	.;.;.	.;.;.	-0.173181	0.03229	0.542	0.64022020398734036	0.07380	0.06276	0.12269	N	AEFBHCI	0.129128	0.24717	N	-1.54642320906798	0.01555	0.06795273	-1.42411652042099	0.03012	0.1397143	0.999748646449728	0.42466	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.12	-5.47	0.02396	-1.601000	0.02184	-20.000000	0.00162	-2.158000	0.00371	0.000000	0.06391	0.000000	0.08366	0.735000	0.35267	0.3161:0.0:0.0:0.6839	13.825	0.62836	335	0.86220	Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, 2-layer sandwich domain;Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, 2-layer sandwich domain;Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, 2-layer sandwich 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	.	.	.	.	.	.	.	.	0.05	175.43	53	chr12	49272736	.	A	T	175.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.63;DP=650;ExcessHet=0;FS=32.946;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.35;MQRankSum=-6.556;QD=1.51;ReadPosRankSum=0.268;SOR=5.136	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,12:116:99:0|1:49272726_C_T:187,0,4151:49272726	9	0	1	0
chr12	50120175	50120175	G	C	exonic	COX14	.	nonsynonymous SNV	COX14:NM_001257134:exon2:c.G132C:p.Q44H,COX14:NM_032901:exon2:c.G132C:p.Q44H,COX14:NM_001257133:exon3:c.G132C:p.Q44H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.10842539135	.	.	8.254e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs759102642	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.083	0.41405	T	0.415	0.35204	B	0.179	0.35808	B	0.119624	0.19067	N	0.431743	0.99959	0.20930	N	.	.	.	-1.25	0.79072	T	-1.37	0.33998	N	0.166	0.17553	-0.5823	0.65526	T	0.339	0.70494	T	9	0.19956031	0.35970	T	0.108425	0.78495	D	0.200	0.48430	0.181	0.08877	0.725690322096	0.72326	0.18386736808237217	0.18305	0.167350641781	0.18878	0.261188387871	0.05033	T	0.151186	0.49101	T	-0.13475	0.30729	T	-0.334482	0.40968	T	0.849902629852295	0.50158	D	0.39886	0.10126	T	0.09806414	0.23124	0.10560721	0.25391	0.09806414	0.23124	0.10560721	0.25390	-6.007	0.46339	T	0.2998005799108918	0.39709	0.184	0.39832	B	.;.;.;.	.;.;.;.	1.849431	0.23498	16.04	0.98873690256164648	0.47684	0.87132	0.46580	D	AEFGBI	0.617089	0.60340	D	-0.0891119967077419	0.37870	2.209503	-0.0462487485182839	0.37654	2.207536	0.999898449853081	0.45129	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.31	3.27	0.36580	2.269000	0.43005	1.891000	0.29518	0.676000	0.76740	0.993000	0.37899	0.977000	0.30130	0.539000	0.29915	0.0:0.3351:0.6649:0.0	14.917	0.70449	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	.	.	.	.	.	.	.	.	0.07143	59.52	35	chr12	50120175	.	G	C	59.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.115;DP=477;ExcessHet=0;FS=34.299;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=2.06;SOR=5.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,14:66:69:0|1:50120175_G_C:69,0,1491:50120175	6	0	1	3
chr12	50120177	50120177	G	C	exonic	COX14	.	nonsynonymous SNV	COX14:NM_001257134:exon2:c.G134C:p.R45P,COX14:NM_032901:exon2:c.G134C:p.R45P,COX14:NM_001257133:exon3:c.G134C:p.R45P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	0.266213280776	.	.	.	.	.	.	.	.	.	.	4.53e-05	7	154602	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.03	0.54159	D	0.997	0.70673	D	0.899	0.63802	P	0.003263	0.35183	N	0.136568	0.647093	0.32929	D	.	.	.	-1.37	0.80214	T	-4.77	0.80425	D	0.622	0.63883	0.395	0.89024	D	0.581	0.84924	D	9	0.76948106	0.76967	D	0.266213	0.89702	D	0.469	0.76355	0.416	0.45544	0.593315388404	0.59009	0.44223213540848866	0.44140	0.450404353452	0.44807	0.451355814934	0.32129	T	0.348356	0.71635	T	0.234568	0.77150	D	0.0991638	0.76852	D	0.990794003009796	0.81026	D	0.50065	0.15660	T	0.7545374	0.81133	0.5787692	0.75588	0.7545374	0.81134	0.5787692	0.75589	-7.862	0.60126	D	0.35586706419216857	0.45272	0.427	0.61035	A	.;.;.;.	.;.;.;.	3.453900	0.48109	22.6	0.99168230901121091	0.54298	0.93845	0.59357	D	AEFGBI	0.891099	0.82674	D	0.552577505294519	0.70238	5.472468	0.529954453449668	0.70015	5.443438	0.999995770045	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.410000	0.59530	8.584000	0.77658	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.723000	0.34869	0.1318:0.0:0.8682:0.0	8.938	0.34874	229	0.91079	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	60.47	35	chr12	50120177	.	G	C	60.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.601;DP=548;ExcessHet=0;FS=34.299;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=1.93;SOR=5.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,14:66:69:0|1:50120175_G_C:69,0,1491:50120175	5	0	1	4
chr12	52308255	52308255	G	A	exonic	KRT86	.	nonsynonymous SNV	KRT86:NM_001320198:exon10:c.G1270A:p.V424M	Monilethrix, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.047503892211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.208	0.26883	T	0.999	0.77913	D	0.942	0.67772	D	0.002256	0.36929	U	0.000000	0.582744	0.32389	D	2.91	0.84121	M	-1.77	0.83660	D	-2.65	0.56787	D	0.485	0.51940	0.373	0.88693	D	0.619	0.86568	D	10	0.49767128	0.61363	T	0.047504	0.62952	D	0.443	0.74588	0.397	0.42426	0.807455762245	0.80565	0.09040970562678684	0.08973	0.454143178451	0.45108	0.766031861305	0.76829	T	0.199022	0.55618	T	0.141343	0.68452	D	-0.0347466	0.68054	D	0.977590560913086	0.71919	D	0.920308	0.71149	D	0.10411263	0.24610	0.14443675	0.34291	0.10411263	0.24610	0.14443675	0.34290	-9.496	0.70834	D	0.3890419314986852	0.48247	0.316	0.54243	B	.;.	.;.	5.274889	0.88570	29.6	0.99825845723172157	0.90852	0.80253	0.39940	D	AEFDBCI	0.402490	0.47655	N	0.53481080168944	0.69163	5.318156	0.515985629414312	0.69063	5.307442	0.999999615682036	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	5.12	5.12	0.69459	4.445000	0.59749	.	.	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	15.733	0.77584	704	0.57414	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	444.43	40	chr12	52308255	.	G	A	444.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.37;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=1.26;SOR=0.884	GT:AD:DP:GQ:PL	0/1:21,21:42:99:456,0,442	9	0	1	0
chr12	55452382	55452382	A	G	exonic	OR6C2	.	nonsynonymous SNV	OR6C2:NM_054105:exon1:c.A169G:p.M57V	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.00465465340174	.	.	4.953e-05	0	0	0	0	9.005e-05	0	0	3.88e-05	6	154602	rs748497507	5.064e-05	5.062e-05	4.221e-05	5.915e-05	0.0003	4.126e-05	3.779e-05	6.096e-05	4.424e-05	0	0	0	0	0	0.0003	6.026e-05	4.968e-05	2.319e-05	6.574e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.003	0.68238	D	0.009	0.66756	D	0.977	0.58535	D	0.788	0.57636	P	0.000001	0.84330	D	0.000000	0.99437	0.42258	D	3.005	0.85968	M	2.99	0.09262	T	-3.56	0.68880	D	0.233	0.26233	-0.8847	0.49382	T	0.097	0.36341	T	10	0.4704162	0.59827	T	0.004655	0.11534	T	0.246	0.55340	0.358	0.36060	0.471127988307	0.46741	0.16065532552205372	0.15986	0.00556021742616	0.00487	0.203853800893	0.00577	T	0.044627	0.26872	T	-0.13893	0.30062	T	-0.222005	0.52543	T	0.655296385288239	0.38690	D	0.866813	0.56740	D	0.86881244	0.88768	0.8244896	0.89827	0.86881244	0.88769	0.8244896	0.89828	-12.115	0.85407	D	.	.	0.184	0.40952	B	.;.;.	.;.;.	2.585742	0.33535	19.37	0.98253280843908375	0.39594	0.98957	0.89158	D	AEFI	0.673474	0.63952	D	0.640453636572033	0.75753	6.361868	0.540489226416183	0.70739	5.549548	0.996813644828781	0.35031	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	5.941000	0.69909	.	.	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	1.0:0.0:0.0:0.0	14.421	0.66755	783	0.47268	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1387.43	33	chr12	55452382	.	A	G	1387.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.34;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.752;SOR=0.71	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1399,0,1492	9	0	1	0
chr12	56433425	56433425	C	A	exonic	TIMELESS	.	nonsynonymous SNV	TIMELESS:NM_001330295:exon5:c.G385T:p.A129S,TIMELESS:NM_003920:exon5:c.G385T:p.A129S	.	430	1051	41	0	0	41	0.0191321	.	.	.	738762	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.032	.	0.0046	0.00638978	0.0079	0.0009	0.0024	0	0.0086	0.0065	0.0066	0.0255	0.0075937	1174	154602	rs72478986	0.0069	0.0069	0.0061	0.0076	0.0258	0.0068	0.0067	0.0249	0.0245	0.0005	0.0034	0.0054	2.519e-05	0.0086	0.0154	0.0059	0.0065	0.0258	0.0057	0.0057	0.0054	0.0059	0.0241	0.0053	0.0052	0.0205	0.0192	0.0011	0.0187	0.0051	0.0058	0.0004	0.0085	0.0102	0.0070	0.0076	0.0241	0.072	0.35165	T	0.04	0.50809	D	0.229	0.30546	B	0.174	0.35540	B	0.012069	0.29301	N	0.349556	0.854854	0.28443	N	1.15	0.29295	L	0.91	0.44856	T	-1.17	0.29933	N	0.395	0.43610	-1.0154	0.25207	T	0.101	0.37518	T	10	0.005491823	0.00121	T	.	.	.	0.032	0.07718	.	.	0.323342291347	0.31936	0.1607800497811879	0.15999	0.171209344156	0.19289	0.346322804689	0.17378	T	0.102101	0.40949	T	-0.544533	0.00315	T	-0.535363	0.18754	T	0.0170223713933494	0.00451	T	0.873013	0.58094	D	0.0435973	0.06821	0.05841588	0.10790	0.0435973	0.06821	0.05841588	0.10790	-3.821	0.21119	T	.	.	0.111	0.21466	B	.;.	.;.	2.246897	0.28697	17.88	0.98645243699174356	0.44110	0.97081	0.72578	D	AEFBI	0.257301	0.37605	N	-0.411462268572135	0.25066	1.358009	-0.299378036005498	0.28119	1.56532	0.0742263954363048	0.15659	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	0.088	0.13762	0.926000	0.28405	0.126000	0.14982	0.599000	0.40250	0.562000	0.27441	0.685000	0.26142	0.998000	0.85391	0.0:0.3314:0.3729:0.2956	5.881	0.18101	147	0.94143	Timeless protein;.	.	.	.	.	.	Likely benign	0	0	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	0.010070	0.000000	0.005435	0.002924	0.000000	0.000000	0.018293	0.034091	0.1	1799.14	34	chr12	56433425	.	C	A	1799.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.566;DP=426;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.791;SOR=0.713	GT:AD:DP:GQ:PL	0/1:30,38:68:99:888,0,678	8	0	2	0
chr12	57526581	57526581	C	G	exonic	MBD6	.	nonsynonymous SNV	MBD6:NM_052897:exon7:c.C1436G:p.P479R	.	419	1086	15	2	0	19	0.00867184	.	.	.	3208947	MBD6-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	0.0002	0.00219649	0.0007	0	0	0	0	3.212e-05	0.0013	0.0078	0.0006209	96	154602	rs377266092	0.0005	0.0005	0.0002	0.0008	0.0083	0.0005	0.0005	0.0077	0.0075	0	0.0003	5.058e-05	0	4.052e-05	0.0038	3.198e-05	0.0008	0.0083	0.0004	0.0004	0.0002	0.0005	0.0110	0.0003	0.0003	0.0086	0.0078	0	0	0	0	0	0	0	2.941e-05	0	0.0110	0.0	0.91255	D	0.0	0.92824	D	0.133	0.27236	B	0.123	0.32463	B	0.022251	0.26671	N	0.259713	0.89591	0.36058	D	0.695	0.17993	N	.	.	.	-0.86	0.23372	N	0.443	0.48134	-0.9578	0.39589	T	0.078	0.31012	T	9	0.0056697726	0.00126	T	.	.	.	0.057	0.16321	.	.	0.043077524339	0.03247	0.21878539586201898	0.21794	0.0478677844679	0.05220	0.647527337074	0.59635	T	0.038321	0.24796	T	-0.366145	0.03794	T	-0.294434	0.45309	T	0.0527051028473688	0.05968	T	0.771423	0.40183	T	0.19242324	0.40911	0.1641021	0.38033	0.19242324	0.40911	0.1641021	0.38032	-6.074	0.46894	T	.	.	0.202	0.42692	B	.;.	.;.	3.370381	0.46573	22.3	0.92364998403707177	0.21769	0.71687	0.35121	D	AEFDGBCI	0.208870	0.33491	N	-0.473000704150568	0.22967	1.230126	-0.335881417086727	0.26950	1.492071	0.999993563667077	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.96	3.06	0.34374	1.028000	0.29734	4.639000	0.44147	-0.218000	0.08083	0.903000	0.31499	1.000000	0.68203	0.958000	0.51230	0.1946:0.8054:0.0:0.0	10.506	0.44024	410	0.82135	.;.	.	.	.	.	.	Likely benign	0	0	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	0.005848	0.000000	0.000000	0.003049	0.003788	0.15	1496.45	37	chr12	57526581	.	C	G	1496.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.718;DP=386;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.201;SOR=0.741	GT:AD:DP:GQ:PL	0/1:14,19:33:99:502,0,349	7	0	3	0
chr12	69610255	69610255	A	G	exonic	LRRC10	.	nonsynonymous SNV	LRRC10:NM_201550:exon1:c.T584C:p.I195T	.	429	1081	12	0	0	12	0.00551978	.	.	.	462464	not_provided|Dilated_Cardiomyopathy,_Dominant	MedGen:C3661900|MedGen:CN239310	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.540	.	0.0044	0.00199681	0.0056	0.0008	0.0027	0.0001	0.0103	0.0074	0.0044	0.0043	0.0053557	828	154602	rs151080979	0.0057	0.0057	0.0057	0.0057	0.0061	0.0056	0.0055	0.0060	0.0060	0.0010	0.0022	0.0005	0.0006	0.0101	0.0050	0.0061	0.0057	0.0046	0.0039	0.0039	0.0034	0.0044	0.0055	0.0036	0.0035	0.0051	0.0049	0.0009	0	0.0014	0.0006	0.0004	0.0121	0.0102	0.0055	0.0028	0.0039	0.003	0.68238	D	0.005	0.72224	D	0.998	0.73220	D	0.796	0.58006	P	0.000000	0.84330	D	0.043669	0.999993	0.58761	D	2.6	0.76081	M	1.67	0.27331	T	-3.6	0.69357	D	0.779	0.77601	-0.9014	0.47846	T	0.115	0.40717	T	10	0.012428105	0.00267	T	.	.	.	0.540	0.80782	.	.	0.408579541211	0.40476	0.6275222854585064	0.62685	0.75651630784	0.64033	0.563143730164	0.47711	T	0.594039	0.86892	D	-0.151175	0.28128	T	0.0166099	0.71410	D	0.018153014950306	0.00537	T	0.862314	0.55722	D	0.52290046	0.68426	0.53892016	0.73353	0.52290046	0.68427	0.53892016	0.73354	-10.074	0.74354	D	.	.	0.783	0.76501	P	.	.	4.598860	0.72823	25.9	0.99804682851977811	0.88906	0.98988	0.89600	D	AEFBI	0.944990	0.95274	D	0.730834733281675	0.81654	7.573107	0.72869220511283	0.84556	8.325322	0.999999997496016	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.63	5.63	0.86108	9.246000	0.94587	11.100000	0.86102	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.861000	0.40843	1.0:0.0:0.0:0.0	16.137	0.81305	804	0.43891	.	.	.	.	.	.	Likely benign	0	0	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	0.000000	0.005435	0.008772	0.000000	0.000000	0.003049	0.000000	0.05	1078.43	35	chr12	69610255	.	A	G	1078.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.553;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.062;SOR=0.74	GT:AD:DP:GQ:PL	0/1:61,47:108:99:1090,0,1483	9	0	1	0
chr12	79797277	79797277	T	G	exonic	PPP1R12A	.	nonsynonymous SNV	PPP1R12A:NM_001244992:exon15:c.A2042C:p.K681T,PPP1R12A:NM_001143886:exon16:c.A1949C:p.K650T,PPP1R12A:NM_002480:exon16:c.A2210C:p.K737T,PPP1R12A:NM_001143885:exon17:c.A2210C:p.K737T,PPP1R12A:NM_001244990:exon17:c.A2210C:p.K737T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0163193990294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.966e-07	6.842e-07	1.382e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.474	0.11370	T	0.565	0.13252	T	0.319	0.36006	B	0.127	0.38982	B	0.000015	0.62929	D	0.063945	0.999906	0.58761	D	2.34	0.67151	M	1.19	0.38236	T	-1.3	0.35399	N	0.462	0.55626	-1.0780	0.07741	T	0.098	0.36677	T	10	0.19913542	0.35911	T	0.016319	0.37519	T	0.099	0.28413	0.22	0.14224	0.479049276626	0.47532	0.18928329560023988	0.18846	0.626975998192	0.56810	0.765670061111	0.76775	T	0.221108	0.58459	T	-0.0475216	0.44823	T	-0.306038	0.44083	T	0.954628169536591	0.64310	D	0.854814	0.54791	D	0.10496419	0.24816	0.07307507	0.15839	0.10496419	0.24816	0.07307507	0.15838	-6.661	0.51516	T	.	.	0.593	0.68570	P	.;.;.;.;.;.	.;.;.;.;.;.	4.456324	0.69317	25.4	0.99658804222450847	0.77820	0.97976	0.78572	D	AEGBI	0.648061	0.62301	D	0.0140011898036551	0.42493	2.56123	0.123401415165804	0.45748	2.832544	0.981930317335731	0.30329	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.6	4.45	0.53365	4.662000	0.61220	6.195000	0.54818	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0726:0.0:0.9274	11.219	0.48069	795	0.45444	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	580.43	38	chr12	79797277	.	T	G	580.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.991;DP=387;ExcessHet=0;FS=1.134;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=1.38;SOR=1.058	GT:AD:DP:GQ:PL	0/1:24,24:48:99:592,0,533	9	0	1	0
chr12	82896304	82896304	G	A	exonic	TMTC2	.	nonsynonymous SNV	TMTC2:NM_001320321:exon2:c.G406A:p.V136I,TMTC2:NM_001320322:exon3:c.G1141A:p.V381I,TMTC2:NM_152588:exon3:c.G1141A:p.V381I	.	429	1014	75	4	0	83	0.0393179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0055	0.0115815	0.0112	0.0010	0.0031	0	0.0056	0.0089	0.0132	0.0408	0.0102715	1588	154602	rs35725509	0.0081	0.0081	0.0070	0.0093	0.0393	0.0080	0.0080	0.0382	0.0378	0.0012	0.0033	0.0130	7.557e-05	0.0046	0.0355	0.0063	0.0085	0.0393	0.0066	0.0066	0.0061	0.0071	0.0455	0.0062	0.0061	0.0405	0.0386	0.0013	0	0.0056	0.0130	0	0.0050	0.0272	0.0076	0.0071	0.0455	0.445	0.09600	T	0.397	0.15157	T	0.0	0.02946	B	0.0	0.04355	B	0.893502	0.07310	N	1.043000	1	0.08975	N	-0.14	0.04484	N	0.77	0.61089	T	-0.11	0.09135	N	0.031	0.03392	-1.0100	0.26917	T	0.067	0.27674	T	10	0.0032096207	0.00054	T	.	.	.	0.089	0.25827	.	.	.	.	0.4571219011695271	0.45630	0.120313219127	0.13549	0.259975850582	0.04888	T	0.001475	0.07715	T	-0.57472	0.00207	T	-0.569046	0.15538	T	0.00167859473731369	0.00017	T	0.385361	0.09439	T	0.029437745	0.02440	0.030641649	0.01546	0.029437745	0.02440	0.030641649	0.01546	-3.77	0.20357	T	.	.	0.063	0.01470	B	.;.;.	.;.;.	0.634495	0.10029	6.781	0.79113060385662604	0.12596	0.32747	0.24661	N	AEFBCI	0.178763	0.30603	N	-0.971895891915682	0.09207	0.434826	-0.862844228796074	0.12979	0.6707715	0.0213079614217698	0.13337	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.86	4.98	0.65679	1.657000	0.36981	2.077000	0.30474	-0.667000	0.04321	0.023000	0.19925	0.033000	0.21346	0.102000	0.18378	0.1418:0.0:0.7159:0.1423	6.911	0.23515	793	0.45818	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028701	0.005051	0.024457	0.043860	0.000000	0.068966	0.024390	0.018939	0.1	4198.14	34	chr12	82896304	.	G	A	4198.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.248;DP=673;ExcessHet=0.2348;FS=0.364;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.461;SOR=0.727	GT:AD:DP:GQ:PL	0/1:111,86:197:99:1931,0,2658	8	0	2	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCT:p.V186Rfs*42,TDG:NM_003211:exon8:c.964_965insAGGATGCAAAGAAGATGGCT:p.V329Rfs*42	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0029	0.0007	0.0010	0.0017	0.0008	0.0008	0.0015	0.0014	0.0009	0.0017	0.0024	0.0014	0.0011	0.0011	0.0007	0.0012	0.0017	3.977e-05	0.0003	3.886e-05	4.074e-05	0.0002	1.728e-05	1.138e-05	8.08e-06	3.02e-06	4.875e-05	0	0	0	0.0002	0.0002	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1489.23	152	chr12	103984920	.	G	GAGGATGCAAAGAAGATGGCT	1489.23	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.85;DP=1300;ExcessHet=2.8389;FS=10.899;InbreedingCoeff=-0.3342;MLEAC=2;MLEAF=0.1;MQ=58.64;MQRankSum=-8.603;QD=2.17;ReadPosRankSum=-4.004;SOR=2.098	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,18:111:99:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:465,0,3834:103984920	8	0	2	0
chr12	103984922	103984922	-	TAAGGAAGA	splicing	TDG	NM_001363612:exon7:c.535+2->TAAGGAAGA;NM_003211:exon8:c.964+2->TAAGGAAGA	.	.	.	444	951	105	0	22	127	0.0523169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.815e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1258.66	152	chr12	103984922	.	T	TTAAGGAAGA	1258.66	.	AC=1;AF=0.063;AN=16;BaseQRankSum=4.89;DP=1210;ExcessHet=1.5895;FS=9.823;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.063;MQ=58.27;MQRankSum=-9.799;QD=2.32;ReadPosRankSum=-3.841;SOR=1.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,18:111:99:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:466,0,3833:103984920	7	0	1	2
chr12	110374256	110374256	T	G	exonic	ANAPC7	.	nonsynonymous SNV	ANAPC7:NM_001385211:exon10:c.A1361C:p.Q454P,ANAPC7:NM_001385212:exon10:c.A1025C:p.Q342P,ANAPC7:NM_001385208:exon11:c.A1628C:p.Q543P,ANAPC7:NM_001385209:exon11:c.A1385C:p.Q462P,ANAPC7:NM_001385210:exon11:c.A1385C:p.Q462P,ANAPC7:NM_016238:exon11:c.A1586C:p.Q529P	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0170890491575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	0.14017	T	0.312	0.19599	T	0.576	0.38723	P	0.188	0.36237	B	0.000255	0.46924	D	0.222920	0.999537	0.51308	D	0	0.06538	N	-0.26	0.67187	T	-0.67	0.19297	N	0.536	0.56403	-0.8581	0.51398	T	0.162	0.49731	T	10	0.39028788	0.54841	T	0.017089	0.38644	T	0.197	0.47942	0.421	0.46365	0.790933654087	0.78899	0.4491788786593667	0.44835	1.01471025542	0.74896	0.747034788132	0.74009	T	0.043048	0.26376	T	0.101795	0.64486	D	-0.091555	0.64046	T	0.588439881801605	0.35945	D	0.861914	0.55630	D	0.3478453	0.56899	0.28073892	0.54051	0.3478453	0.56899	0.28073892	0.54050	-3.914	0.22512	T	.	.	0.068	0.02733	B	.	.	3.513810	0.49220	22.7	0.979279164893466	0.36935	0.90255	0.51287	D	AEFDGBCI	0.688808	0.64969	D	0.0930758213383799	0.46139	2.859049	0.26744678653724	0.53649	3.532747	0.999999999422858	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.88	5.88	0.94564	4.117000	0.57623	7.855000	0.71153	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.299	0.82622	223	0.91367	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	827.43	35	chr12	110374256	.	T	G	827.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.568;DP=395;ExcessHet=0;FS=1.716;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=-0.559;SOR=0.886	GT:AD:DP:GQ:PL	0/1:55,38:93:99:839,0,1401	9	0	1	0
chr12	110628923	110628923	G	A	exonic	TCTN1	.	nonsynonymous SNV	TCTN1:NM_001319682:exon4:c.G461A:p.S154N	Joubert syndrome 13, Autosomal recessive	.	.	.	.	.	.	.	0.9819	0.712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0426171191547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	3.42e-06	5.448e-06	1.376e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	0.06109	T	0.302	0.32608	B	0.121	0.32300	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.15333271	0.28945	T	0.042617	0.60557	D	.	.	.	.	0.614370161906	0.61125	.	.	.	.	.	.	.	.	.	.	-0.33182	0.05975	T	-0.714413	0.05070	T	.	.	.	0.284972	0.05045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27613	B	.	.	2.472231	0.31864	18.87	0.68165143318971155	0.08575	0.15893	0.19132	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.828579610106998	0.24652	0.106106	0.02776	0	0.097471	0.02872	0	0.083675	0.02720	0	0.109871	0.03346	0	.	.	5.28	1.32	0.20897	1.425000	0.34467	6.317000	0.55438	0.672000	0.70159	0.932000	0.32345	1.000000	0.68203	0.839000	0.39591	0.34:0.1612:0.4988:0.0	4.316	0.10433	186	0.92733	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	296.11	94	chr12	110628923	.	G	A	296.11	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.906;DP=1262;ExcessHet=2.8389;FS=190.894;InbreedingCoeff=-0.329;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=0.048;SOR=10.732	GT:AD:DP:GQ:PL	0/1:111,41:152:16:16,0,1776	5	0	5	0
chr12	110898984	110898984	G	C	exonic	CCDC63	.	nonsynonymous SNV	CCDC63:NM_001286244:exon8:c.G964C:p.G322R,CCDC63:NM_001286243:exon9:c.G1081C:p.G361R,CCDC63:NM_152591:exon10:c.G1201C:p.G401R	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0042602852626	.	.	1.652e-05	0	0	0	0	3.002e-05	0	0	1.29e-05	2	154602	rs116589141	2.054e-06	2.052e-06	2.724e-06	1.376e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	3.314e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.17881	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.828335	0.06926	N	1.081060	1	0.08975	N	-1.78	0.00307	N	2.03	0.20959	T	2.23	0.00314	N	0.146	0.15187	-0.8828	0.49537	T	0.011	0.04088	T	10	0.019711167	0.00444	T	0.00426	0.10310	T	0.033	0.08068	0.294	0.25720	0.0482279557977	0.04254	0.4559833808952731	0.45516	0.0583062659332	0.06459	0.265920877457	0.05616	T	0.005012	0.05598	T	-0.391959	0.02613	T	-0.785312	0.02297	T	0.0704515230100885	0.08714	T	0.219778	0.02813	T	0.0387586	0.05224	0.071664274	0.15372	0.0387586	0.05224	0.071664274	0.15371	-1.951	0.03640	T	.	.	0.059	0.02038	B	.;.;.	.;.;.	-0.377577	0.02298	0.242	0.38014214992291601	0.02539	0.01123	0.04093	N	AEFI	0.026759	0.02066	N	-2.07099423376929	0.00148	0.006345566	-2.0804468919051	0.00205	0.009050337	0.864385628402124	0.25288	0.568482	0.32641	0	0.547309	0.14657	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	4.49	-8.98	0.00647	0.046000	0.13919	0.458000	0.18589	-1.545000	0.00970	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2777:0.5795:0.1429:0.0	9.437	0.37812	152	0.94023	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1478.14	35	chr12	110898984	.	G	C	1478.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.716;DP=407;ExcessHet=0.2348;FS=3.464;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=1.02;SOR=0.426	GT:AD:DP:GQ:PL	0/1:27,40:67:99:949,0,530	8	0	2	0
chr12	118095560	118095560	A	G	exonic	VSIG10	.	nonsynonymous SNV	VSIG10:NM_019086:exon2:c.T334C:p.W112R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00167589656828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.08140	T	0.133	0.34359	T	0.007	0.14184	B	0.011	0.15521	B	0.539684	0.11549	N	0.742530	1	0.08975	N	2.585	0.75554	M	2.04	0.20808	T	-0.35	0.12847	N	0.249	0.28146	-0.9824	0.34445	T	0.028	0.11795	T	10	0.056750834	0.06409	T	0.001676	0.02753	T	0.073	0.21317	0.488	0.57257	0.0297737177859	0.01360	0.38784832351288734	0.38699	0.358169936136	0.37530	0.445121705532	0.31277	T	0.001103	0.06874	T	-0.149119	0.28450	T	-0.451975	0.27480	T	0.059229404019872	0.07047	T	0.433757	0.11839	T	0.077518985	0.17599	0.0528974	0.08804	0.077518985	0.17598	0.0528974	0.08803	-1.078	0.01089	T	.	.	0.220	0.45024	B	.;.	.;.	1.684661	0.21469	15.21	0.85287938938714747	0.15800	0.04089	0.09551	N	AEFDGBI	0.043484	0.06880	N	-0.713293566445435	0.15647	0.7904071	-0.644558574901326	0.18354	0.9801184	4.60472203157962E-4	0.07036	0.722319	0.85440	0	0.573888	0.26702	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.99	1.18	0.20058	0.728000	0.25682	0.460000	0.18609	0.756000	0.94297	0.279000	0.25131	0.000000	0.08366	0.998000	0.85391	0.4313:0.1749:0.0937:0.3	1.010	0.01402	968	0.07033	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	.	.	.	.	.	.	.	.	0.05	1170.43	33	chr12	118095560	.	A	G	1170.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.905;DP=466;ExcessHet=0;FS=0.664;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.42;ReadPosRankSum=-1.171;SOR=0.8	GT:AD:DP:GQ:PL	0/1:81,58:139:99:1182,0,2079	9	0	1	0
chr12	119156703	119156720	AGCCGGAGCCGGAGCAGG	-	exonic	SRRM4	.	nonframeshift deletion	SRRM4:NM_194286:exon13:c.1741_1758del:p.R590_S595del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.592e-06	1.026e-05	2.827e-06	1.451e-05	0.0002	4.58e-06	3.62e-06	9.113e-05	6.506e-05	3.17e-05	0.0002	0	0	2.095e-05	0.0002	9.267e-07	0	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	887.1	33	chr12	119156702	.	CAGCCGGAGCCGGAGCAGG	C	887.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.05;DP=279;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=20.63;ReadPosRankSum=1.18;SOR=0.533	GT:AD:DP:GQ:PL	0/1:7,11:18:99:428,0,260	8	0	2	0
chr12	119156707	119156707	G	0	exonic	SRRM4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	298.74	34	chr12	119156707	.	G	*	298.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.835;DP=290;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=3.93;ReadPosRankSum=-1.07;SOR=0.61	GT:AD:DP:GQ:PL	0/1:7,11:18:99:428,0,260	8	0	2	0
chr12	120739317	120739317	A	G	exonic	ACADS	.	nonsynonymous SNV	ACADS:NM_000017:exon10:c.A1108G:p.M370V,ACADS:NM_001302554:exon10:c.A1096G:p.M366V	Acyl-CoA dehydrogenase, short-chain, deficiency of, Autosomal recessive	0	1494	28	0	0	28	0.00928382	.	.	.	200245	Deficiency_of_butyryl-CoA_dehydrogenase|Type_2_diabetes_mellitus|not_provided	MONDO:MONDO:0008722,MedGen:C0342783,OMIM:201470,Orphanet:26792|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.923	.	.	0.00319489	0.0022	0	0.0002	0	0.0002	0.0002	0.0070	0.0143	0.0018564	287	154602	rs566325901	0.0009	0.0009	0.0006	0.0013	0.0128	0.0009	0.0009	0.0122	0.0120	5.975e-05	0.0001	0.0001	0	9.547e-05	0.0031	0.0002	0.0008	0.0128	0.0005	0.0005	0.0003	0.0008	0.0145	0.0004	0.0004	0.0118	0.0108	0	0	0.0001	0	0	0	0	0.0001	0	0.0145	0.051	0.53172	T	0.028	0.54934	D	0.818	0.45651	P	0.291	0.40706	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.595	0.15482	N	-3.85	0.95859	D	-3.83	0.72120	D	0.948	0.95608	0.656	0.92626	D	0.764	0.91953	D	10	0.028777868	0.01008	T	.	.	.	0.923	0.98079	.	.	0.970739665433	0.97042	0.9502718581226505	0.95010	0.770922189815	0.64756	0.717661619186	0.69705	T	0.875532	0.97347	D	0.157138	0.69935	D	0.463972	0.93882	D	0.0599859771721227	0.07166	T	0.983668	0.94607	D	0.7723314	0.82188	0.6916848	0.81856	0.82393956	0.85488	0.72276574	0.83629	-7.831	0.59913	D	0.5274915690359021	0.59883	0.162	0.35705	B	.;.	.;.	4.633774	0.73696	26.0	0.99358178166899647	0.60904	0.98346	0.81852	D	AEFDBI	0.964973	0.98721	D	0.374761369312287	0.60058	4.190697	0.432990466616109	0.63633	4.60088	0.999996781295101	0.74766	0.700653	0.57754	0	0.643519	0.57511	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	4.74	4.74	0.59717	8.964000	0.92969	11.132000	0.86827	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	14.260	0.65626	503	0.75780	Acyl-CoA dehydrogenase/oxidase C-terminal|Acyl-CoA dehydrogenase, conserved site;Acyl-CoA dehydrogenase/oxidase C-terminal|Acyl-CoA dehydrogenase, 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	0.004532	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.026515	0.1	2457.14	34	chr12	120739317	.	A	G	2457.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.057;DP=537;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=0.386;SOR=0.691	GT:AD:DP:GQ:PL	0/1:63,66:129:99:1387,0,1561	8	0	2	0
chr12	122716083	122716083	G	A	exonic	HCAR3	.	stopgain	HCAR3:NM_006018:exon1:c.C655T:p.Q219X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.671e-05	0	0	0	0	1.518e-05	0	6.083e-05	3.84e-05	1	26028	rs765355631	4.793e-06	4.788e-06	1.362e-06	8.259e-06	0.0005	1.99e-06	1.28e-06	0.0001	7.562e-05	0	0	0	0	0	0.0005	3.601e-06	0	0	1.98e-05	1.97e-05	1.29e-05	2.702e-05	0.0002	5.26e-06	2.46e-06	8.04e-06	3.01e-06	4.854e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999901	0.81001	N	.	.	.	.	.	.	.	.	.	0.839	0.83473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298245	0.82827	D	0.291262	0.87750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.826003	0.96899	36	0.98730254882326529	0.45348	0.17895	0.20033	N	AEFBI	0.249612	0.36981	N	0.210438103881618	0.51704	3.349634	-0.0522681345979552	0.37392	2.188735	0.00329375076874083	0.10040	0.446893	0.09132	0	0.541556	0.11502	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.41	2.5	0.29355	1.366000	0.33797	6.723000	0.56435	0.320000	0.19365	0.433000	0.26432	1.000000	0.68203	0.908000	0.44358	0.0:0.0:0.5831:0.4169	8.510	0.32372	465	0.78421	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3365.14	89	chr12	122716083	.	G	A	3365.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.51;DP=691;ExcessHet=0.2348;FS=20.757;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=49.35;MQRankSum=1.45;QD=17.08;ReadPosRankSum=-0.671;SOR=0.548	GT:AD:DP:GQ:PL	0/1:42,60:102:99:1732,0,1100	8	0	2	0
chr12	123313662	123313662	T	C	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon24:c.A3178G:p.M1060V,SBNO1:NM_018183:exon24:c.A3175G:p.M1059V	.	429	1042	45	6	0	57	0.0266231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	.	0.0029	0.0159744	0.0109	0.0007	0.0062	0.0237	0.0011	0.0044	0.0152	0.0436	0.0096312	1489	154602	rs61760910	0.0062	0.0063	0.0051	0.0073	0.0388	0.0061	0.0060	0.0377	0.0372	0.0006	0.0063	0.0103	0.0222	0.0012	0.0182	0.0033	0.0074	0.0388	0.0050	0.0050	0.0043	0.0057	0.0396	0.0047	0.0046	0.0350	0.0332	0.0007	0	0.0084	0.0107	0.0212	0.0013	0.0068	0.0035	0.0071	0.0396	0.183	0.21718	T	0.169	0.30534	T	0.001	0.07471	B	0.002	0.06944	B	0.000002	0.62929	D	0.058316	0.856217	0.35307	D	-0.31	0.03598	N	1.65	0.27650	T	-0.66	0.19085	N	0.333	0.39254	-1.0340	0.19173	T	0.015	0.06234	T	10	0.0048089623	0.00102	T	.	.	.	0.137	0.36984	.	.	.	.	0.38444614813562367	0.38359	0.688503199129	0.60440	0.510839700699	0.40340	T	0.009356	0.08525	T	-0.512294	0.00487	T	-0.479375	0.24512	T	0.00408432732271108	0.00043	T	0.880312	0.59828	D	0.071064286	0.15703	0.12246162	0.29540	0.071064286	0.15703	0.12246162	0.29539	-4.076	0.24935	T	.	.	0.069	0.03093	B	.;.;.	.;.;.	2.591516	0.33622	19.39	0.90063825735817182	0.19349	0.92334	0.55472	D	AEFGBI	0.219016	0.34395	N	-0.347043841201191	0.27380	1.501804	-0.0900975112708858	0.35799	2.075433	0.0120214417839473	0.12269	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	0.715000	0.25493	2.800000	0.34847	-0.194000	0.09177	0.938000	0.32564	0.999000	0.35428	0.582000	0.30943	0.139:0.0:0.1451:0.7159	7.636	0.27435	458	0.78890	Strawberry notch, helicase C domain;.;Strawberry notch, helicase C 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	0.016633	0.005102	0.014946	0.017544	0.000000	0.000000	0.027439	0.030303	0.1	1152.14	37	chr12	123313662	.	T	C	1152.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.44;DP=393;ExcessHet=0.2348;FS=2.561;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.581;SOR=0.468	GT:AD:DP:GQ:PL	0/1:33,25:58:99:557,0,828	8	0	2	0
chr12	123345377	123345377	G	T	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon4:c.C431A:p.T144N,SBNO1:NM_018183:exon4:c.C428A:p.T143N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00339287899614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.585	0.08808	T	0.272	0.31812	B	0.118	0.32088	B	0.004903	0.33273	N	0.328826	0.647682	0.30561	N	1.39	0.34934	L	1.4	0.33630	T	-0.35	0.12847	N	0.518	0.54845	-1.0352	0.18794	T	0.059	0.24834	T	10	0.114836305	0.21617	T	0.003393	0.07603	T	0.025	0.05312	0.195	0.10705	0.0934897674506	0.08844	0.21345852562402548	0.21261	0.111518708374	0.12590	0.461476445198	0.33512	T	0.011702	0.10405	T	-0.156419	0.27311	T	-0.462461	0.26331	T	0.53838837146759	0.34044	D	0.915608	0.69895	D	0.11028021	0.26068	0.10097969	0.24159	0.11028021	0.26068	0.10097969	0.24159	-4.013	0.24370	T	.	.	0.083	0.16451	B	.;.;.	.;.;.	3.141597	0.42488	21.5	0.97165131835613439	0.32651	0.98200	0.80475	D	AEFGBI	0.285951	0.39845	N	-0.276288406955663	0.30066	1.673085	-0.129456538326334	0.34208	1.96519	0.996501975868754	0.34791	0.719381	0.83141	0	0.702456	0.74545	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.74	4.84	0.62125	4.479000	0.59970	7.301000	0.58090	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.1414:0.8586:0.0	15.052	0.71546	434	0.80536	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1277.43	36	chr12	123345377	.	G	T	1277.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.295;DP=443;ExcessHet=0;FS=2.257;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=0.599;SOR=0.93	GT:AD:DP:GQ:PL	0/1:76,56:132:99:1289,0,1860	9	0	1	0
chr12	123841542	123841542	G	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon29:c.G5003A:p.S1668N,DNAH10:NM_001372106:exon30:c.G5357A:p.S1786N	.	.	.	.	.	.	.	.	.	.	.	2283062	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.00709474541311	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1471740977	3.422e-06	3.42e-06	1.362e-06	5.503e-06	0.0005	1e-06	7.3e-07	0.0001	7.555e-05	0	0	0	0	0	0.0005	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.27266	B	0.051	0.25434	B	0.886623	0.07269	U	1.068500	0.999691	0.48338	D	2.235	0.63160	M	.	.	.	.	.	.	.	.	-1.0796	0.07426	T	0.075	0.30210	T	10	0.22833478	0.39736	T	0.007095	0.18786	T	0.065	0.18881	0.401	0.43081	0.283761946502	0.27984	0.1572440061779064	0.15645	0.14722284871	0.16604	0.532261013985	0.43353	T	0.002151	0.01556	T	-0.246639	0.14515	T	-0.592056	0.13489	T	0.255440651503049	0.23115	T	0.79872	0.44372	T	0.17726563	0.38684	0.13918619	0.33218	0.17726563	0.38684	0.13918619	0.33218	-6.442	0.49836	T	.	.	0.107	0.20157	B	.;.	.;.	2.559156	0.33143	19.25	0.97895400447742897	0.36704	0.94937	0.62850	D	AEFDBI	0.623097	0.60717	D	-0.107741256699715	0.37056	2.150408	0.00999356994228071	0.40176	2.393689	0.123389120594213	0.16935	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.42	3.53	0.39533	3.850000	0.55627	3.453000	0.38460	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.275:0.725:0.0	15.697	0.77264	360	0.84920	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	510.43	37	chr12	123841542	.	G	A	510.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.237;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.47;ReadPosRankSum=-1.143;SOR=0.693	GT:AD:DP:GQ:PL	0/1:13,18:31:99:522,0,384	9	0	1	0
chr12	124385773	124385773	T	C	exonic	NCOR2	.	nonsynonymous SNV	NCOR2:NM_001077261:exon19:c.A1988G:p.E663G,NCOR2:NM_001206654:exon19:c.A1988G:p.E663G,NCOR2:NM_006312:exon19:c.A1991G:p.E664G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0179909851649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.37326	T	0.373	0.35455	T	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	U	0.000000	0.999746	0.48716	D	2.115	0.58683	M	1.53	0.30401	T	-4.22	0.82700	D	0.544	0.62611	-1.0777	0.07801	T	0.045	0.19316	T	10	0.19596839	0.35470	T	0.017991	0.39899	T	0.082	0.23913	0.354	0.35408	0.450326921165	0.44653	0.3953967645725706	0.39454	1.12430380814	0.78398	0.627811789513	0.56835	T	0.745444	0.92983	D	-0.145007	0.29095	T	-0.446069	0.28131	T	0.760746419429779	0.43894	D	0.647735	0.41282	T	0.29197964	0.52176	0.2603496	0.51797	0.29197964	0.52176	0.2603496	0.51796	-13.534	0.91443	D	.	.	0.180	0.46688	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.331398	0.45867	22.2	0.98202932681238364	0.39140	0.61979	0.31644	D	ALL	0.450764	0.50503	N	-0.392340846563718	0.25740	1.399615	-0.270981737637846	0.29059	1.625072	0.999995403686395	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.570548	0.19454	0	0.735409	0.98432	0	.	.	4.56	2.11	0.26299	4.202000	0.58243	2.130000	0.30774	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:0.1657:0.161:0.6733	4.767	0.12509	493	0.76500	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1894.43	35	chr12	124385773	.	T	C	1894.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.065;DP=456;ExcessHet=0;FS=6.47;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=-1.972;SOR=1.252	GT:AD:DP:GQ:PL	0/1:60,78:138:99:1906,0,1395	9	0	1	0
chr12	131136105	131136105	C	T	exonic	ADGRD1	.	nonsynonymous SNV	ADGRD1:NM_198827:exon22:c.C2336T:p.A779V,ADGRD1:NM_001330497:exon23:c.C2432T:p.A811V	.	408	1103	10	1	0	12	0.00541028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0316882876283	0.0043	0.00219649	0.0032	0.0010	0.0012	0	0.0036	0.0042	0.0011	0.0036	0.0033441	517	154602	rs61746588	0.0052	0.0052	0.0052	0.0052	0.0060	0.0051	0.0051	0.0058	0.0058	0.0010	0.0011	0.0036	2.519e-05	0.0034	0.0024	0.0060	0.0043	0.0038	0.0035	0.0035	0.0037	0.0032	0.0055	0.0032	0.0031	0.0051	0.0049	0.0014	0	0.0016	0.0029	0	0.0031	0.0034	0.0055	0.0033	0.0033	0.553	0.31682	T	0.053	0.48336	T	0.333	0.33288	B	0.348	0.42747	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	1.32	0.42888	T	-1.77	0.46842	N	0.236	0.35408	-1.0328	0.19554	T	0.099	0.36856	T	10	0.011330992	0.00248	T	0.031688	0.53708	D	0.192	0.47115	.	.	0.340273420219	0.33633	0.6195358704187521	0.61886	0.375101027453	0.38964	0.612511396408	0.54672	T	0.046247	0.27367	T	-0.397878	0.02391	T	-0.341966	0.40123	T	0.0339995679956849	0.02638	T	0.886711	0.61387	D	0.1617801	0.36210	0.09806599	0.23365	0.1617801	0.36210	0.09806599	0.23364	-10.951	0.81858	D	.	.	0.436	0.63504	A	.;.;.;.	.;.;.;.	3.641012	0.51624	23.1	0.99007448783626295	0.50293	.	.	.	.	0.561855	0.56968	D	-0.143630967992697	0.35506	2.040317	-0.194426386223552	0.31741	1.799154	0.230439066823754	0.18459	0.638212	0.43195	0	0.670034	0.63936	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	4.6	3.71	0.41733	5.117000	0.64504	7.379000	0.58442	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.056000	0.15673	0.0:0.902:0.0:0.098	10.360	0.43167	988	0.01987	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	.	.	.	.	.	.	.	.	0.05	1085.43	55	chr12	131136105	.	C	T	1085.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=550;ExcessHet=0;FS=3.639;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=1.73;SOR=1.068	GT:AD:DP:GQ:PL	0/1:58,47:105:99:1097,0,1309	9	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	0.15	3563.45	36	chr12	131756617	.	A	G	3563.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.439;DP=524;ExcessHet=0.7463;FS=4.886;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.114;SOR=0.467	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1088,0,1319	7	0	3	0
chr12	132139675	132139675	C	T	exonic	DDX51	.	nonsynonymous SNV	DDX51:NM_175066:exon14:c.G1934A:p.R645Q	.	424	1097	1	0	0	1	0.000455581	.	.	.	2424938	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.020095575888	0.0002	.	0.0002	0.0003	0.0002	0	0	0.0003	0.0011	0	0.0001876	29	154602	rs200730907	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0.0002	0	2.519e-05	5.73e-05	0	0.0002	8.281e-05	0	0.0001	0.0001	0.0001	6.722e-05	0.0002	6.51e-05	5.322e-05	7.89e-05	5.586e-05	0.0002	0	0.0001	0	0	0	0	0.0001	0	0	0.368	0.11623	T	0.429	0.13752	T	0.051	0.22415	B	0.017	0.18140	B	0.007977	0.31093	N	0.320936	0.999993	0.08975	N	0.83	0.20963	L	4.53	0.01980	T	-0.33	0.12472	N	0.206	0.22870	-0.8984	0.48155	T	0.006	0.02131	T	10	0.04831344	0.04264	T	0.020096	0.42623	T	0.020	0.03691	.	.	0.144782658237	0.14088	0.494042030794622	0.49325	0.0456167028869	0.04953	0.200592756271	0.00474	T	0.006167	0.05608	T	-0.564474	0.00239	T	-0.751045	0.03445	T	0.0107012512162328	0.00151	T	0.70223	0.31206	T	0.029982297	0.02583	0.03260221	0.02021	0.029982297	0.02582	0.03260221	0.02021	-5.52	0.42054	T	.	.	0.070	0.03552	B	.	.	-0.061063	0.03878	0.845	0.76747152310328837	0.11593	0.11581	0.16728	N	AEFBCI	0.053596	0.09671	N	-0.989920079763169	0.08818	0.4149424	-1.03017069732989	0.09125	0.452273	0.00572121514008691	0.11025	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.59	1.2	0.20181	-0.225000	0.09156	-4.959000	0.01910	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.047000	0.14932	0.0:0.6013:0.0:0.3987	6.929	0.23611	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2639.14	35	chr12	132139675	.	C	T	2639.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.672;DP=484;ExcessHet=0.2348;FS=1.159;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=0.424;SOR=0.801	GT:AD:DP:GQ:PL	0/1:41,36:77:99:932,0,1096	8	0	2	0
chr12	132148891	132149110	CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	-	exonic	NOC4L	.	frameshift deletion	NOC4L:NM_024078:exon9:c.897_901del:p.D299Efs*25	.	422	945	57	36	62	191	0.063893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0042	0.0039	0.0041	0.0054	0.0037	0.0036	0.0045	0.0041	0.0042	0.0068	0.0054	0.0069	0.0014	0.0029	0.0072	0.0037	0.0095	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	10687.2	33	chr12	132148890	.	ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	A	10687.2	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=576;ExcessHet=0.0059;FS=9.734;InbreedingCoeff=0.6;MLEAC=1;MLEAF=0.05;MQ=59.61;MQRankSum=-0.878;QD=30.28;ReadPosRankSum=-1.424;SOR=1.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,66:92:99:.:.:3278,1108,1080:.	9	0	1	0
chr12	132508201	132508201	C	T	exonic	FBRSL1	.	nonsynonymous SNV	FBRSL1:NM_001142641:exon2:c.C340T:p.R114C,FBRSL1:NM_001367871:exon2:c.C340T:p.R114C,FBRSL1:NM_001382739:exon2:c.C340T:p.R114C,FBRSL1:NM_001382740:exon2:c.C340T:p.R114C,FBRSL1:NM_001382741:exon2:c.C340T:p.R114C,FBRSL1:NM_001382742:exon2:c.C43T:p.R15C,FBRSL1:NM_001382743:exon2:c.C340T:p.R114C	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.100248050987	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs774632428	3.288e-05	3.147e-05	4.091e-05	2.464e-05	0.0001	2.521e-05	2.255e-05	7.727e-05	5.922e-05	0	0	0	2.798e-05	0	0	2.966e-05	3.449e-05	0.0001	3.285e-05	3.283e-05	5.138e-05	1.345e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.024	0.47745	D	0.02	0.58613	D	1.0	0.90584	D	0.933	0.66815	D	.	.	.	.	0.999919	0.19599	N	1.445	0.36358	L	1.41	0.33412	T	-2.36	0.52128	N	0.266	0.30118	-0.9563	0.39861	T	0.167	0.50648	T	9	0.21993741	0.38677	T	0.100248	0.77241	D	0.114	0.32008	0.354	0.35408	0.406806705197	0.40296	0.2070280584551769	0.20618	.	.	0.558578014374	0.47068	T	0.112825	0.42939	T	-0.328256	0.06243	T	-0.505693	0.21759	T	0.631990544911756	0.37701	D	0.884811	0.67067	D	0.18640661	0.40047	0.13836497	0.33045	0.18640661	0.40047	0.13836497	0.33044	-8.461	0.64171	D	.	.	0.195	0.65181	B	.;.;.	.;.;.	4.099554	0.61118	24.3	0.99905991592819909	0.97651	0.11798	0.16869	N	AEFDBIJ	0.179622	0.30691	N	0.0539061322667307	0.44322	2.70841	-0.10525020446456	0.35178	2.032128	0.999999804825177	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.19	4.19	0.48645	-0.130000	0.10477	5.767000	0.49719	0.589000	0.31548	0.000000	0.06391	1.000000	0.68203	0.202000	0.21954	0.0:1.0:0.0:0.0	14.425	0.66785	482	0.77288	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	624.43	35	chr12	132508201	.	C	T	624.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.074;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.77;SOR=0.678	GT:AD:DP:GQ:PL	0/1:17,25:42:99:636,0,386	9	0	1	0
chr12	133010770	133010770	G	C	exonic	ZNF26	.	nonsynonymous SNV	ZNF26:NM_001256280:exon3:c.G795C:p.L265F,ZNF26:NM_019591:exon4:c.G891C:p.L297F,ZNF26:NM_001256279:exon5:c.G990C:p.L330F,ZNF26:NM_001330513:exon5:c.G831C:p.L277F,ZNF26:NM_001330514:exon5:c.G831C:p.L277F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00879506846839	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879239416	1.095e-05	1.095e-05	4.085e-06	1.788e-05	0.0003	6.48e-06	5.25e-06	6.246e-05	4.757e-05	0	0	0	0	0	0.0003	3.598e-06	0	0.0001	6.575e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.49613	D	0.087	0.40747	T	0.115	0.26429	B	0.017	0.18140	B	0.015111	0.28339	N	0.000000	0.99904	0.21681	N	0.68	0.16426	N	2.41	0.15492	T	-1.11	0.31375	N	0.161	0.16864	-1.0056	0.28277	T	0.016	0.06616	T	9	0.066979975	0.09266	T	0.008795	0.23196	T	0.055	0.15663	0.462	0.53079	0.0401082797425	0.02173	0.041853809287092	0.04130	.	.	0.628104627132	0.56875	T	0.068802	0.33550	T	-0.204871	0.20107	T	-0.53206	0.19081	T	0.0743839988331244	0.09253	T	0.218578	0.03512	T	0.08629617	0.20053	0.1160189	0.28009	0.08629617	0.20052	0.1160189	0.28008	-3.168	0.12094	T	.	.	0.421	0.60746	A	.;.	.;.	2.243318	0.28645	17.87	0.99875059868874982	0.95244	0.25329	0.22666	N	AEFDBHI	0.107615	0.21435	N	-0.638013589806084	0.17812	0.9196797	-0.537442359495725	0.21140	1.142198	0.0336086876767862	0.14114	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.13	2.27	0.27501	0.274000	0.18443	0.369000	0.17657	0.590000	0.31872	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.2932:0.0:0.4889:0.2179	2.638	0.04663	934	0.15400	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	.	.	.	.	.	.	.	.	0.1	3048.14	35	chr12	133010770	.	G	C	3048.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.51;DP=557;ExcessHet=0.2348;FS=2.789;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-2.129;SOR=0.797	GT:AD:DP:GQ:PL	0/1:61,43:104:99:1237,0,1702	8	0	2	0
chr13	24842079	24842079	G	A	exonic	RNF17	.	nonsynonymous SNV	RNF17:NM_001184993:exon19:c.G2521A:p.D841N,RNF17:NM_031277:exon19:c.G2521A:p.D841N	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0110795595748	.	0.000798722	0.0005	0	0	0	0	1.501e-05	0	0.0033	0.0003881	60	154602	rs576855995	0.0002	0.0002	0.0001	0.0003	0.0034	0.0002	0.0002	0.0031	0.0030	0	0	0	0	0	0.0002	4.503e-06	0.0003	0.0034	9.196e-05	9.188e-05	1.285e-05	0.0002	0.0029	5.526e-05	4.364e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	0.102	0.31235	T	0.125	0.35330	T	0.238	0.30817	B	0.041	0.23986	B	0.000686	0.42383	D	0.160974	0.690654	0.33323	D	2.255	0.64187	M	1.55	0.29866	T	-2.26	0.62343	N	0.144	0.14480	-1.0882	0.05839	T	0.043	0.18576	T	10	0.008404076	0.00191	T	0.01108	0.28332	T	0.043	0.11576	0.466	0.53729	0.0934897674506	0.08844	0.2894132170477805	0.28854	0.249861181399	0.27563	0.466215312481	0.34162	T	0.368824	0.73364	T	-0.617194	0.00114	T	-0.661754	0.08148	T	0.092695738938564	0.11533	T	0.621038	0.23867	T	0.052309424	0.09738	0.067128144	0.13846	0.052309424	0.09738	0.067128144	0.13845	-3.982	0.23533	T	.	.	0.096	0.15564	B	.;.	.;.	2.448746	0.31530	18.77	0.99494005160949905	0.67630	0.69828	0.34343	D	AEFI	0.120871	0.23525	N	-0.24887484763706	0.31149	1.743697	-0.156140377428503	0.33174	1.894836	0.00540696336563385	0.10928	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.29	3.43	0.38372	2.235000	0.42690	5.350000	0.48370	-0.164000	0.11507	0.998000	0.41325	1.000000	0.68203	0.334000	0.25294	0.0869:0.1585:0.7545:0.0	8.169	0.30404	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	608.43	44	chr13	24842079	.	G	A	608.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.195;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.76;ReadPosRankSum=-0.131;SOR=0.73	GT:AD:DP:GQ:PL	0/1:58,32:90:99:620,0,1275	9	0	1	0
chr13	25169861	25169861	C	A	exonic	AMER2	.	nonsynonymous SNV	AMER2:NM_152704:exon1:c.G1759T:p.V587L,AMER2:NM_199138:exon3:c.G1402T:p.V468L	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00471475239024	.	0.000199681	0.0003	0	0	0	0	0	0	0.0024	0.0002717	42	154602	rs535170330	0.0001	0.0001	8.44e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0	0	0	0	0	0	0	0.0001	0.0024	9.851e-05	9.843e-05	3.855e-05	0.0002	0.0031	6.003e-05	4.877e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.363	0.12754	T	0.358	0.17064	T	0.575	0.40170	P	0.188	0.40541	B	0.017590	0.27685	N	0.366686	0.70112	0.33422	D	1.535	0.38868	L	2.38	0.15843	T	-0.73	0.24898	N	0.136	0.23884	-1.0419	0.16741	T	0.043	0.18410	T	10	0.010994226	0.00242	T	0.004715	0.11722	T	0.043	0.11576	0.43	0.47843	0.0482279557977	0.04254	0.1284960215343725	0.12774	.	.	0.598546624184	0.52699	T	0.004669	0.04082	T	-0.549512	0.00294	T	-0.567661	0.15665	T	0.137325971830851	0.16042	T	0.779322	0.42574	T	0.16446249	0.36655	0.108271934	0.26077	0.16446249	0.36654	0.108271934	0.26077	-3.069	0.12863	T	.	.	0.252	0.48664	B	.;.	.;.	3.277140	0.44887	22.0	0.98342894563327343	0.40457	0.87637	0.47242	D	AEFDBI	0.206097	0.33239	N	0.0716830396064926	0.45146	2.77602	0.168977840630084	0.48157	3.035418	0.999994933177209	0.74766	0.582742	0.33608	0	0.59043	0.45803	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	5.84	5.84	0.93373	0.963000	0.28890	7.518000	0.59719	0.599000	0.40250	0.359000	0.25834	1.000000	0.68203	0.914000	0.44937	0.0:0.8554:0.1446:0.0	14.693	0.68710	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1894.43	36	chr13	25169861	.	C	A	1894.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.273;DP=482;ExcessHet=0;FS=3.513;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-0.669;SOR=0.65	GT:AD:DP:GQ:PL	0/1:90,82:172:99:1906,0,2168	9	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	829.52	139	chr13	38859428	.	G	C	829.52	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-3.772;DP=1447;ExcessHet=4.5998;FS=263.084;InbreedingCoeff=-0.5678;MLEAC=7;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=1.69;SOR=11.973	GT:AD:DP:GQ:PL	0/1:130,52:189:99:110,0,2274	2	0	6	2
chr13	46343496	46343496	C	T	exonic	RUBCNL	.	nonsynonymous SNV	RUBCNL:NM_001286762:exon13:c.G1724A:p.R575H	.	.	.	.	.	.	.	.	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00786911919381	.	0.000399361	6.779e-05	0	0.0003	0	0	7.672e-05	0	0	6.47e-05	10	154602	rs190172666	2.601e-05	2.668e-05	2.996e-05	2.202e-05	8.953e-05	1.934e-05	1.693e-05	2.987e-05	1.805e-05	0	8.953e-05	0	0	0	0	2.16e-05	0.0002	0	6.567e-05	6.561e-05	2.57e-05	0.0001	0.0005	3.515e-05	2.615e-05	0.0003	0.0002	2.406e-05	0	0.0005	0	0	0	0.0034	0	0	0	0.014	0.53172	D	0.097	0.39190	T	0.004	0.12183	B	0.001	0.04355	B	0.000162	0.00496	N	2.953950	1	0.81001	D	.	.	.	0.9	0.45248	T	-1.42	0.34992	N	0.055	0.02658	-0.9850	0.33832	T	0.071	0.28904	T	9	0.009932578	0.00223	T	0.007869	0.20877	T	0.087	0.25287	.	.	0.0666544352282	0.05500	.	.	.	.	.	.	.	.	.	.	-0.283402	0.10309	T	-0.447221	0.28004	T	0.303137212991714	0.25133	T	0.361564	0.08348	T	.	.	.	.	.	.	.	.	-4.256	0.27556	T	.	.	0.084	0.09481	B	.	.	0.004724	0.04313	1.091	0.96541398828304892	0.30190	0.05586	0.11488	N	AEFBCI	0.044672	0.07217	N	-0.722997557971074	0.15377	0.7743718	-0.949048077565302	0.10945	0.5545741	0.999926324292593	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.67347	0.61138	0	0.567339	0.31927	0	.	.	5.55	-3.02	0.05116	-1.709000	0.01990	-7.293000	0.01188	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.309:0.2643:0.167:0.2597	0.285	0.00232	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	587.43	47	chr13	46343496	.	C	T	587.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.983;DP=376;ExcessHet=0;FS=4.854;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.423;SOR=0.223	GT:AD:DP:GQ:PL	0/1:20,25:45:99:599,0,468	9	0	1	0
chr13	48707088	48707088	C	T	exonic	CYSLTR2	.	nonsynonymous SNV	CYSLTR2:NM_001308471:exon2:c.C271T:p.L91F,CYSLTR2:NM_001308470:exon3:c.C271T:p.L91F,CYSLTR2:NM_001308468:exon4:c.C271T:p.L91F,CYSLTR2:NM_001308469:exon4:c.C271T:p.L91F,CYSLTR2:NM_001308476:exon5:c.C271T:p.L91F,CYSLTR2:NM_020377:exon5:c.C271T:p.L91F,CYSLTR2:NM_001308465:exon6:c.C271T:p.L91F,CYSLTR2:NM_001308467:exon6:c.C271T:p.L91F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.689	0.078996869705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000069	0.52346	D	0.000000	0.999935	0.51612	D	3.165	0.88605	M	-0.84	0.74265	T	-3.91	0.73042	D	0.793	0.78927	0.287	0.87356	D	0.608	0.86089	D	10	0.9020765	0.89570	D	0.078997	0.73134	D	0.689	0.88679	0.813	0.92857	0.820264731763	0.81857	0.10742602207171828	0.10671	0.59830580156	0.55004	0.573267996311	0.49139	T	0.305049	0.67732	T	0.334068	0.85440	D	0.242089	0.85249	D	0.995085775852203	0.86803	D	0.80472	0.45238	T	0.67176086	0.76527	0.63818467	0.78869	0.67176086	0.76528	0.63818467	0.78870	-6.257	0.48381	T	.	.	0.740	0.75127	P	.;.	.;.	3.575614	0.50385	22.9	0.99904801034533286	0.97576	0.90035	0.50903	D	AEFI	0.425476	0.49022	N	0.651786939871812	0.76486	6.49515	0.584780102916667	0.73849	6.038128	0.999999804912509	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.08	5.23	0.72570	2.120000	0.41591	1.033000	0.23495	0.599000	0.40250	0.950000	0.33075	0.487000	0.25133	0.918000	0.45347	0.0:0.8438:0.0:0.1562	11.142	0.47635	707	0.57054	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1599.43	33	chr13	48707088	.	C	T	1599.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.779;DP=413;ExcessHet=0;FS=2.604;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=-0.134;SOR=0.985	GT:AD:DP:GQ:PL	0/1:43,60:103:99:1611,0,1050	9	0	1	0
chr13	49207195	49207195	C	T	exonic	FNDC3A	.	nonsynonymous SNV	FNDC3A:NM_014923:exon24:c.C3229T:p.L1077F,FNDC3A:NM_001079673:exon26:c.C3397T:p.L1133F,FNDC3A:NM_001278438:exon26:c.C3397T:p.L1133F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0419690295787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.70582	D	0.949	0.77913	P	0.54	0.82059	P	0.000054	0.53742	D	0.000000	1	0.81001	D	2.585	0.75554	M	0.71	0.51228	T	-3.62	0.69593	D	0.323	0.57348	-0.4604	0.70054	T	0.295	0.66678	T	10	0.22287786	0.39051	T	0.041969	0.60212	D	0.243	0.54921	0.369	0.37850	0.372491666437	0.36864	0.5664525812468311	0.56573	0.839902955918	0.67995	0.563994050026	0.47830	T	0.819175	0.95560	D	-0.0276599	0.47755	T	-0.277508	0.47059	T	0.961157739162445	0.66003	D	0.813919	0.46746	T	0.4863372	0.66284	0.43706197	0.67138	0.4863372	0.66284	0.43706197	0.67138	-7.389	0.56827	T	.	.	0.215	0.45049	B	.;.;.	.;.;.	3.489993	0.48778	22.7	0.99826956051019289	0.90939	0.98366	0.82047	D	AEFBI	0.545040	0.55972	D	0.337088245672336	0.58062	3.976339	0.241441188949294	0.52164	3.393098	0.999988974942276	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	4.53	0.55009	2.912000	0.48479	2.732000	0.34396	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.9238:0.0:0.0762	13.447	0.60600	660	0.61921	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	.	.	.	.	.	.	.	.	0.05	1853.43	35	chr13	49207195	.	C	T	1853.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=505;ExcessHet=0;FS=0.553;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=1.3;SOR=0.763	GT:AD:DP:GQ:PL	0/1:97,81:178:99:1865,0,2227	9	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	.	.	.	.	.	.	.	.	0.5	1754.69	104	chr13	69882456	.	G	A	1754.69	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.531;DP=1331;ExcessHet=22.563;FS=222.247;InbreedingCoeff=-0.9152;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=0.573;SOR=12.405	GT:AD:DP:GQ:PL	0/1:70,57:134:99:309,0,697	0	0	10	0
chr13	95210694	95210694	G	C	exonic	ABCC4	.	nonsynonymous SNV	ABCC4:NM_001301830:exon4:c.C394G:p.Q132E,ABCC4:NM_001105515:exon5:c.C619G:p.Q207E,ABCC4:NM_001301829:exon5:c.C619G:p.Q207E,ABCC4:NM_005845:exon5:c.C619G:p.Q207E	.	.	.	.	.	.	.	.	0.3701	0.53	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0271979909277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.478	0.08286	T	1.0	0.04477	T	0.004	0.12183	B	0.02	0.19048	B	0.000000	0.84330	D	0.054165	1	0.81001	D	0.27	0.09956	N	-2.41	0.88533	D	-0.88	0.27669	N	0.128	0.16308	-0.4029	0.71935	T	0.425	0.76856	T	10	0.24728465	0.42007	T	0.027198	0.50036	D	0.348	0.66956	0.556	0.67409	0.78952506352	0.78757	0.4265959933505734	0.42576	0.256247635266	0.28199	0.408372879028	0.26232	T	0.210039	0.57042	T	-0.0405815	0.45861	T	-0.296069	0.45139	T	0.619982063770294	0.37205	D	0.828817	0.58582	T	0.23851986	0.46731	0.22453485	0.47369	0.23851986	0.46731	0.22453485	0.47368	-2.864	0.15545	T	.	.	0.104	0.18950	B	.;.;.;.;.;.	.;.;.;.;.;.	3.278682	0.44915	22.0	0.98733016574946064	0.45378	0.94044	0.59944	D	AEFDBI	0.645472	0.62135	D	-0.317972519366309	0.28465	1.570285	-0.101634532737968	0.35326	2.042349	0.999999994584141	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.85	4.85	0.62375	6.737000	0.74619	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	18.001	0.89120	818	0.41518	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.;.;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1595.14	41	chr13	95210694	.	G	C	1595.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.849;DP=498;ExcessHet=0.2348;FS=3.412;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.48;ReadPosRankSum=0.253;SOR=0.467	GT:AD:DP:GQ:PL	0/1:46,34:80:99:701,0,1170	8	0	2	0
chr13	100368479	100368479	G	T	exonic	PCCA	.	nonsynonymous SNV	PCCA:NM_001352608:exon17:c.G1429T:p.V477F,PCCA:NM_001352612:exon17:c.G562T:p.V188F,PCCA:NM_001127692:exon18:c.G1573T:p.V525F,PCCA:NM_001352606:exon18:c.G1507T:p.V503F,PCCA:NM_001352607:exon18:c.G1573T:p.V525F,PCCA:NM_001352610:exon18:c.G706T:p.V236F,PCCA:NM_001352611:exon18:c.G706T:p.V236F,PCCA:NM_000282:exon19:c.G1651T:p.V551F,PCCA:NM_001178004:exon19:c.G1651T:p.V551F,PCCA:NM_001352605:exon19:c.G1651T:p.V551F,PCCA:NM_001352609:exon19:c.G1651T:p.V551F	Propionicacidemia, Autosomal recessive	35	1422	60	5	0	70	0.024022	.	.	.	47470	Propionic_acidemia|not_provided|not_specified	Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	.	0.0061	0.00279553	0.0077	0.0020	0.0058	0.0001	0.0020	0.0106	0.0099	0.0070	0.007846	1213	154602	rs61749895	0.0088	0.0091	0.0087	0.0090	0.0362	0.0087	0.0086	0.0322	0.0306	0.0020	0.0081	0.0100	0	0.0027	0.0362	0.0096	0.0098	0.0068	0.0070	0.0070	0.0066	0.0074	0.0128	0.0066	0.0065	0.0113	0.0107	0.0019	0	0.0128	0.0110	0	0.0023	0.0411	0.0096	0.0157	0.0054	0.51	0.50676	T	0.706	0.54541	T	0.072	0.23997	B	0.059	0.26602	B	0.000666	0.42516	D	0.092028	0.999897	0.19781	N	1.245	0.31408	L	-1.19	0.78427	T	-1.24	0.41428	N	0.253	0.29313	-0.9538	0.40310	T	0.166	0.50486	T	10	0.0050973594	0.00110	T	.	.	.	0.495	0.78036	.	.	0.237489013734	0.23353	0.5414792096076211	0.54072	0.18749610879	0.21068	0.274469137192	0.06733	T	0.405477	0.76164	T	-0.220797	0.17884	T	-0.0795484	0.64938	T	0.002613999720297	0.00027	T	0.686231	0.31753	T	0.10194706	0.24085	0.08496319	0.19583	0.09695565	0.22845	0.07956249	0.17920	-3.107	0.13455	T	0.09290950936720156	0.06056	0.096	0.15385	B	.;.;.;.	.;.;.;.	0.493760	0.08630	5.399	0.58896346874019345	0.06098	0.25735	0.22787	N	AEFGBI	0.246318	0.36709	N	-1.39697904296976	0.02667	0.1180743	-1.37944493398146	0.03472	0.1620144	0.93334498371539	0.27125	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.77	-1.81	0.07456	-0.163000	0.09986	-0.136000	0.11567	-0.678000	0.04252	0.706000	0.28683	0.000000	0.08366	0.310000	0.24737	0.2295:0.0:0.7705:0.0	13.543	0.61143	892	0.26670	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023162	0.015152	0.031250	0.035088	0.050000	0.008621	0.015244	0.007576	0.1	933.14	39	chr13	100368479	.	G	T	933.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.882;DP=382;ExcessHet=0.2348;FS=1.717;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.061;SOR=0.501	GT:AD:DP:GQ:PL	0/1:28,27:55:99:584,0,660	8	0	2	0
chr13	107866338	107866338	-	CTG	exonic	FAM155A	.	nonframeshift insertion	FAM155A:NM_001080396:exon1:c.258_259insCAG:p.Q86_R87insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0076	.	0.0091	0.0050	0.0086	0.0013	0.0041	0.0124	0.0060	0.0061	0.0029199	76	26028	rs775886294	0.0085	0.0085	0.0086	0.0085	0.0271	0.0084	0.0083	0.0236	0.0222	0.0040	0.0083	0.0179	0.0012	0.0040	0.0271	0.0090	0.0108	0.0051	0.0081	0.0080	0.0085	0.0076	0.0123	0.0077	0.0075	0.0109	0.0103	0.0038	0.0518	0.0123	0.0165	0.0022	0.0039	0.0139	0.0098	0.0110	0.0057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	904.39	35	chr13	107866338	.	T	TCTG	904.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.518;DP=395;ExcessHet=0;FS=1.085;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=-0.084;SOR=0.914	GT:AD:DP:GQ:PL	0/1:29,25:56:99:916,0,1106	9	0	1	0
chr13	107866499	107866499	T	A	exonic	FAM155A	.	nonsynonymous SNV	FAM155A:NM_001080396:exon1:c.A98T:p.E33V	.	403	1116	3	0	0	3	0.00134228	.	.	.	3565109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.448	0.0247541079638	.	.	8.258e-05	0	0.0002	0	0	0.0001	0	0	6.47e-05	10	154602	rs755049158	6.499e-05	6.498e-05	5.99e-05	7.013e-05	0.0021	5.428e-05	5.042e-05	0.0012	0.0009	2.987e-05	0.0002	0	0	1.875e-05	0.0021	4.766e-05	0.0002	6.956e-05	7.901e-05	7.884e-05	6.436e-05	9.435e-05	0.0001	4.505e-05	3.519e-05	5.849e-05	4.244e-05	4.835e-05	0	0.0001	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.001	0.83351	D	0.997	0.70673	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999815	0.49394	D	0.975	0.24501	L	.	.	.	-3.51	0.68298	D	0.9	0.90025	-0.3937	0.72225	T	0.321	0.69004	T	9	0.67577934	0.70982	D	0.024754	0.47746	T	0.448	0.74935	0.314	0.28935	0.540005531159	0.53652	0.6209453495671061	0.62027	1.35953395001	0.84282	0.685852825642	0.65109	T	0.176757	0.52681	T	0.23216	0.76924	D	0.380419	0.91443	D	0.853822946548462	0.50499	D	0.919408	0.70943	D	0.70559084	0.78364	0.5778908	0.75540	0.70559084	0.78365	0.5778908	0.75541	-2.877	0.08915	T	.	.	0.958	0.87767	P	.	.	5.049429	0.84098	28.2	0.9918101550552425	0.54672	0.95628	0.65485	D	AEFDGBHCI	0.920941	0.89366	D	0.687886232896114	0.78839	6.953039	0.676842277480445	0.80624	7.340314	0.999999999999898	0.74766	0.685219	0.55550	0	0.563428	0.19063	0	0.674405	0.61402	0	0.372554	0.06265	0	.	.	5.13	5.13	0.69729	7.363000	0.78773	7.751000	0.68142	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.132	0.64793	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1443.43	35	chr13	107866499	.	T	A	1443.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.817;DP=453;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-1.75;SOR=0.624	GT:AD:DP:GQ:PL	0/1:47,58:105:99:1455,0,1144	9	0	1	0
chr14	19868787	19868787	G	A	exonic	OR4K3	.	unknown	UNKNOWN	.	901	620	1	0	0	1	0.000805802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1053703876	6.873e-05	4.93e-05	8.209e-05	5.577e-05	0.0010	4.282e-05	3.517e-05	0.0003	0.0001	0	0	0	0	0.0001	0	5.041e-05	0.0002	0.0010	5.251e-05	5.249e-05	3.854e-05	6.711e-05	0.0010	2.555e-05	1.828e-05	0.0004	0.0003	0	0	0	0	0	9.414e-05	0	1.47e-05	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1540.43	89	chr14	19868787	.	G	A	1540.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.554;DP=1657;ExcessHet=0;FS=1.541;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.71;ReadPosRankSum=-0.59;SOR=0.59	GT:AD:DP:GQ:PL	0/1:245,82:327:99:1552,0,6537	9	0	1	0
chr14	22978943	22978943	A	G	exonic	AJUBA	.	nonsynonymous SNV	AJUBA:NM_001289097:exon2:c.T1100C:p.F367S	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0038	0	0	0	.	0.0004	0	0.0053	0.0002846	44	154602	rs566042229	0.0003	0.0002	0.0001	0.0004	0.0037	0.0003	0.0002	0.0033	0.0032	0	7.078e-05	0.0003	7.787e-05	0	0.0011	1.955e-05	0.0003	0.0037	0.0001	0.0001	0.0001	0.0001	0.0021	8.164e-05	6.721e-05	0.0011	0.0009	2.407e-05	0	6.535e-05	0	0	0	0	0.0001	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	996.43	37	chr14	22978943	.	A	G	996.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.258;DP=382;ExcessHet=0;FS=1.011;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=0.555;SOR=0.516	GT:AD:DP:GQ:PL	0/1:22,41:63:99:1008,0,482	9	0	1	0
chr14	31388867	31388867	T	C	exonic	HEATR5A	.	nonsynonymous SNV	HEATR5A:NM_015473:exon7:c.A911G:p.D304G	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.0582623433711	0.0007	0.000798722	0.0007	0	0.0009	0	0.0005	0.0010	0	0.0005	0.0006468	100	154602	rs191067821	0.0005	0.0005	0.0005	0.0006	0.0125	0.0005	0.0005	0.0102	0.0093	0.0001	0.0009	0.0075	0	0.0001	0.0125	0.0003	0.0011	0.0006	0.0006	0.0006	0.0006	0.0005	0.0007	0.0005	0.0004	0.0004	0.0003	7.221e-05	0	0.0007	0.0095	0	0	0.0034	0.0005	0.0019	0.0006	0.003	0.68238	D	0.009	0.66756	D	.	.	.	.	.	.	0.000037	0.55875	D	0.158036	0.999999	0.81001	D	.	.	.	3.18	0.07478	T	-4.13	0.75139	D	0.645	0.65673	-0.3083	0.74753	T	0.348	0.71241	T	10	0.010729134	0.00238	T	0.058262	0.67257	D	0.358	0.67872	.	.	0.146414634003	0.14194	0.5306783669414971	0.52991	.	.	0.668260812759	0.62590	T	0.21943	0.58244	T	-0.217696	0.18309	T	-0.144674	0.59711	T	0.092789273463035	0.11545	T	0.89781	0.64256	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.55597	B	.	.	4.907205	0.80710	27.4	0.99799972095627087	0.88461	0.95259	0.64030	D	AEFDGBCIJ	0.900088	0.84522	D	0.699577363522754	0.79603	7.112982	0.714730928328987	0.83495	8.037151	0.999999999999977	0.74766	0.706548	0.73137	0	0.616935	0.53198	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	7.667000	0.82852	7.907000	0.73837	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.031	0.80381	452	0.79239	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.009511	0.008772	0.000000	0.008621	0.000000	0.000000	0.05	1872.43	104	chr14	31388867	.	T	C	1872.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.06;DP=928;ExcessHet=0;FS=0.59;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-1.016;SOR=0.772	GT:AD:DP:GQ:PL	0/1:77,83:160:99:1884,0,1717	9	0	1	0
chr14	49828752	49828752	C	T	exonic	NEMF	.	nonsynonymous SNV	NEMF:NM_001301732:exon14:c.G1288A:p.V430I,NEMF:NM_004713:exon14:c.G1288A:p.V430I	.	.	.	.	.	.	.	.	.	.	.	4000462	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.00652732137649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.024e-07	6.844e-07	1.401e-06	0	9.215e-07	0	0	.	.	0	0	0	0	0	0	9.215e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.07449	T	0.202	0.27414	T	0.0	0.02946	B	0.001	0.04355	B	0.838975	0.09049	N	0.919952	1	0.08975	N	0.345	0.11182	N	0.92	0.44461	T	-0.15	0.09796	N	0.106	0.09066	-1.0277	0.21200	T	0.044	0.18906	T	10	0.049535275	0.04557	T	0.006527	0.17215	T	0.059	0.16972	0.216	0.13643	0.0675242888579	0.06100	0.09252634116586625	0.09184	0.170487582951	0.19220	0.283385008574	0.07968	T	0.028284	0.20524	T	-0.321334	0.06789	T	-0.69935	0.05861	T	0.0160732790827751	0.00386	T	0.638236	0.25169	T	0.0133085195	0.00055	0.020824725	0.00157	0.0133085195	0.00055	0.020824725	0.00157	-4.185	0.26534	T	.	.	0.064	0.01622	B	.;.	.;.	1.422496	0.18392	13.71	0.71592721133148873	0.09681	0.14086	0.18215	N	AEFGBI	0.071758	0.14298	N	-0.890736333141236	0.11062	0.5318469	-0.806133964913521	0.14347	0.7491669	0.00753574642332822	0.11489	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	1.04	0.19220	0.323000	0.19340	1.862000	0.29329	0.545000	0.25583	0.210000	0.24424	0.999000	0.35428	0.658000	0.32913	0.1445:0.3844:0.0:0.471	4.825	0.12775	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	819.43	34	chr14	49828752	.	C	T	819.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.622;DP=435;ExcessHet=0;FS=1.911;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.286;SOR=0.459	GT:AD:DP:GQ:PL	0/1:36,39:75:99:831,0,838	9	0	1	0
chr14	55380613	55380613	G	A	exonic	ATG14	.	nonsynonymous SNV	ATG14:NM_014924:exon7:c.C955T:p.H319Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.0162295172718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	0.04302	T	0.966	0.02509	T	0.84	0.46486	P	0.708	0.54437	P	0.000000	0.84330	D	0.048295	1	0.81001	D	1.505	0.38159	L	1.36	0.34452	T	-0.06	0.07882	N	0.57	0.59308	-1.1042	0.03620	T	0.090	0.34463	T	10	0.45267877	0.58797	T	0.01623	0.37384	T	0.193	0.47281	0.637	0.77361	0.292062946507	0.28806	0.6162994018991854	0.61561	0.443210753979	0.44258	0.643291115761	0.59033	T	0.011117	0.09959	T	-0.0371104	0.46376	T	-0.291083	0.45659	T	0.919443368911743	0.57816	D	0.938606	0.76932	D	0.16538963	0.36808	0.17175211	0.39381	0.16538963	0.36808	0.17175211	0.39380	-1.021	0.01023	T	.	.	0.1	0.17146	B	.	.	4.176281	0.62829	24.5	0.99299212364967704	0.58577	0.99636	0.98212	D	AEFDBI	0.860766	0.77869	D	0.340827389864358	0.58257	3.996926	0.435366078193277	0.63781	4.619044	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	9.667000	0.97886	11.776000	0.95984	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:1.0:0.0	19.109	0.93293	441	0.80015	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2035.43	34	chr14	55380613	.	G	A	2035.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.985;DP=494;ExcessHet=0;FS=1.158;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.23;SOR=0.604	GT:AD:DP:GQ:PL	0/1:85,93:178:99:2047,0,1758	9	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	.	.	.	.	.	.	.	.	0.35	805.9	81	chr14	58213644	.	T	C	805.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.332;DP=628;ExcessHet=7.0302;FS=229.252;InbreedingCoeff=-0.531;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=1.73;SOR=10.236	GT:AD:DP:GQ:PL	0/1:43,19:62:99:118,0,706	3	0	7	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	.	.	.	.	.	.	.	.	0.5	2693.57	112	chr14	64158707	.	T	C	2693.57	.	AC=8;AF=0.5;AN=16;BaseQRankSum=-2.332;DP=1280;ExcessHet=10.3881;FS=229.843;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.563;MQ=60;MQRankSum=0;QD=2.74;ReadPosRankSum=1.66;SOR=11.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,40:148:99:0|1:64158707_T_C:494,0,3029:64158707	0	0	8	2
chr14	64158708	64158708	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876A:p.M5292I,SYNE2:NM_182914:exon86:c.G15876A:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2288662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00845025875398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.25304455	0.42666	T	0.00845	0.22357	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.2659272823830213	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102013	0.36092	T	-0.384311	0.35217	T	0.684482932090759	0.39994	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.504241	0.32334	19.01	0.96935941736678333	0.31676	0.86357	0.45621	D	AEFGBI	0.264582	0.38189	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1706.15	87	chr14	64158708	.	G	A	1706.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.709;DP=980;ExcessHet=2.8389;FS=221.069;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.91;ReadPosRankSum=1.08;SOR=9.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,40:148:99:0|1:64158707_T_C:494,0,3029:64158707	5	0	5	0
chr14	69571717	69571717	C	T	exonic	CCDC177	.	nonsynonymous SNV	CCDC177:NM_001271507:exon2:c.G1906A:p.E636K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0805080955331	.	0.000599042	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs533041668	1.853e-05	1.642e-05	1.755e-05	1.962e-05	0.0008	1.21e-05	9.83e-06	0.0005	0.0004	0	0	0	0	0	0	1.087e-06	6.869e-05	0.0008	5.255e-05	5.25e-05	2.57e-05	8.061e-05	0.0015	2.556e-05	1.83e-05	0.0007	0.0005	2.406e-05	0	0	0	0	0	0	0	0	0.0015	.	.	.	0.109	0.37449	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.175	0.29870	L	1.48	0.31731	T	.	.	.	0.575	0.59732	.	.	.	.	.	.	.	0.10809696	0.20106	T	0.080508	0.73476	D	.	.	.	.	0.227260227426	0.22338	0.0959834354285696	0.09530	.	.	0.74029558897	0.73016	T	0.021988	0.17030	T	-0.0898745	0.38098	T	-0.366875	0.37253	T	.	.	.	0.80342	0.45053	T	0.20816322	0.43044	0.3950038	0.64180	0.20816322	0.43044	0.3950038	0.64180	-3.69	0.19171	T	.	.	0.296	0.52639	B	.	.	4.322321	0.66157	24.9	0.97554175575518964	0.34582	0.96334	0.68631	D	AEFDGBCI	0.815046	0.73712	D	.	.	.	.	.	.	0.999999999238684	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.6	3.69	0.41483	6.080000	0.70936	2.696000	0.34125	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.9203:0.0:0.0797	13.066	0.58445	408	0.82256	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1741.43	37	chr14	69571717	.	C	T	1741.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.223;DP=456;ExcessHet=0;FS=5.107;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.662;SOR=0.401	GT:AD:DP:GQ:PL	0/1:64,75:139:99:1753,0,1383	9	0	1	0
chr14	70761150	70761150	G	T	exonic	MAP3K9	.	nonsynonymous SNV	MAP3K9:NM_001284230:exon3:c.C853A:p.L285M,MAP3K9:NM_001284231:exon3:c.C64A:p.L22M,MAP3K9:NM_033141:exon3:c.C853A:p.L285M	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	.	.	0.00339457	0.0017	0	9.056e-05	0	0	0	0	0.0120	0.0013907	215	154602	rs557062833	0.0007	0.0007	0.0004	0.0010	0.0109	0.0007	0.0006	0.0103	0.0101	2.987e-05	2.236e-05	0	0	0	0.0007	5.396e-06	0.0009	0.0109	0.0004	0.0004	0.0003	0.0005	0.0115	0.0003	0.0003	0.0090	0.0082	0	0	0	0	0.0002	0	0	0	0	0.0115	0.132	0.63226	T	0.214	0.26549	T	0.95	0.53885	P	0.854	0.60866	P	0.000001	0.84330	D	0.000000	0.999629	0.81001	D	1.315	0.32790	L	-2.45	0.88847	D	-1.44	0.35399	N	0.464	0.55799	0.320	0.87879	D	0.691	0.89345	D	10	0.009439051	0.00213	T	.	.	.	0.462	0.75889	0.44	0.49484	0.717921191499	0.71544	0.5994536810291854	0.59876	0.967676190881	0.73244	0.591045260429	0.51641	T	0.043474	0.42156	T	-0.239436	0.15421	T	-0.107314	0.62825	T	0.0477872287361761	0.05105	T	0.761424	0.38629	T	0.5825429	0.71747	0.39504215	0.64182	0.5825429	0.71748	0.39504215	0.64182	-6.291	0.48650	T	.	.	0.161	0.45074	B	.;.;.;.;.	.;.;.;.;.	4.159624	0.62453	24.5	0.99621680046477301	0.75473	0.90553	0.51824	D	AEFGBI	0.287741	0.39981	N	0.365690256074011	0.59573	4.137806	0.407310559263604	0.62021	4.410657	0.995327852794331	0.34065	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.13	4.16	0.48138	2.560000	0.45559	3.436000	0.38348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0825:0.0:0.9175:0.0	14.214	0.65323	782	0.47442	Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1197.43	38	chr14	70761150	.	G	T	1197.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.971;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.675;SOR=0.798	GT:AD:DP:GQ:PL	0/1:34,50:84:99:1209,0,779	9	0	1	0
chr14	73252735	73252735	C	T	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon10:c.C1054T:p.R352W,PAPLN:NM_173462:exon10:c.C973T:p.R325W,PAPLN:NM_001365906:exon11:c.C1054T:p.R352W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.0784621205462	.	.	8.317e-06	0	0	0	0	1.518e-05	0	0	6.5e-06	1	154602	rs200690849	1.506e-05	1.505e-05	1.634e-05	1.376e-05	8.961e-05	9.86e-06	8.42e-06	2.374e-05	1.258e-05	8.961e-05	0	0	0	3.786e-05	0	1.439e-05	1.656e-05	0	1.971e-05	1.97e-05	1.285e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.541e-05	0	0	0	0	1.47e-05	0	0.0002	0.035	0.48642	D	0.015	0.61642	D	1.0	0.90584	D	0.96	0.70309	D	.	.	.	.	0.557202	0.32182	D	1.23	0.30720	L	0.11	0.61208	T	-5.1	0.83695	D	0.324	0.48963	-0.3622	0.73198	T	0.303	0.67427	T	9	0.5998429	0.66850	D	0.078462	0.73010	D	0.214	0.50650	0.509	0.60540	0.547470054201	0.54402	0.39874819368783704	0.39789	0.702846743555	0.61233	0.225454837084	0.01649	T	0.046981	0.27587	T	-0.120126	0.33102	T	-0.346683	0.39584	T	0.945491135120392	0.62275	D	0.708829	0.32694	T	0.15251881	0.34619	0.12459558	0.30031	0.15251881	0.34619	0.12459558	0.30030	-11.008	0.79702	D	.	.	0.117	0.25914	B	.;.;.;.	.;.;.;.	4.155271	0.62356	24.4	0.99887168544720395	0.96204	0.80794	0.40342	D	AEFDGBCI	0.662919	0.63262	D	0.218223145097393	0.52082	3.384784	0.0542721608351279	0.42278	2.554477	0.903140086268103	0.26144	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.22	2.1	0.26226	4.688000	0.61403	2.783000	0.34747	0.599000	0.40250	1.000000	0.71638	0.034000	0.21380	0.006000	0.07323	0.5444:0.3405:0.1152:0.0	7.999	0.29445	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	.	.	.	.	.	.	.	.	0.05	2306.43	36	chr14	73252735	.	C	T	2306.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.13;DP=616;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-1.004;SOR=0.685	GT:AD:DP:GQ:PL	0/1:110,99:209:99:2318,0,2371	9	0	1	0
chr14	76804971	76804971	T	C	exonic	ANGEL1	.	nonsynonymous SNV	ANGEL1:NM_001370746:exon6:c.A1412G:p.N471S,ANGEL1:NM_001370747:exon6:c.A1412G:p.N471S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs552522228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.638e-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	.	.	.	.	.	.	.	.	0.08333	74.01	.	chr14	76804971	.	T	C	74.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.967;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:76804971_T_C:81,0,36:76804971	5	0	1	4
chr14	76805004	76805004	T	C	splicing	ANGEL1	NM_001370747:exon6:c.1381-2A>G;NM_001370746:exon6:c.1381-2A>G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs990043941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.024e-05	3.967e-05	1.315e-05	2.773e-05	2.965e-05	5.38e-06	2.49e-06	4.92e-06	1.84e-06	2.534e-05	0	0	0	0	0	0	2.965e-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	.	.	.	.	.	.	.	.	0.125	76.35	.	chr14	76805004	.	T	C	76.35	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.967;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=25.45;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:76804971_T_C:81,0,36:76804971	3	0	1	6
chr14	77027451	77027451	T	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6111	467.86	24	chr14	77027451	.	T	*	467.86	.	AC=11;AF=0.611;AN=18;DP=359;ExcessHet=5.3821;FS=3.352;InbreedingCoeff=-0.3867;MLEAC=12;MLEAF=0.667;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.339;SOR=0.49	GT:AD:DP:GQ:PL	0/1:12,18:30:99:698,0,410	0	2	7	1
chr14	77914523	77914523	A	G	exonic	ADCK1	.	nonsynonymous SNV	ADCK1:NM_001366487:exon8:c.A1024G:p.I342V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs993858359	1.32e-05	1.32e-05	1.115e-05	1.56e-05	0.0005	7.08e-06	5.18e-06	0.0002	0.0002	0	0	0	0	0	0	3.937e-06	0	0.0005	2.628e-05	2.627e-05	0	5.379e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	35.52	0	chr14	77914523	.	A	G	35.52	.	AC=2;AF=0.143;AN=14;DP=21;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=17.76;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	3
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	.	.	.	.	.	.	.	.	0.35	983.97	138	chr14	78297852	.	G	A	983.97	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.136;DP=1458;ExcessHet=7.0302;FS=257.196;InbreedingCoeff=-0.5388;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.164;SOR=12.28	GT:AD:DP:GQ:PL	0/1:63,46:109:99:203,0,839	3	0	7	0
chr14	87947872	87947872	C	A	exonic	GALC	.	nonsynonymous SNV	GALC:NM_001201401:exon12:c.G1276T:p.D426Y,GALC:NM_000153:exon13:c.G1345T:p.D449Y,GALC:NM_001201402:exon13:c.G1267T:p.D423Y	Krabbe disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518	0.242367421504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.34444	T	0.057	0.46406	T	0.99	0.63424	D	0.722	0.54942	P	0.169423	0.17419	N	0.558544	1	0.08975	N	2.76	0.80626	M	-3.66	0.95212	D	-1.06	0.27669	N	0.34	0.40765	0.431	0.89564	D	0.859	0.95305	D	10	0.38709575	0.54620	T	0.242367	0.88757	D	0.518	0.79461	0.493	0.58048	0.95552049638	0.95504	0.7889905702290672	0.78851	0.392744924576	0.40454	0.385046958923	0.22969	T	0.603594	0.87331	D	0.146417	0.68932	D	-0.0274579	0.68537	D	0.301827073097229	0.25079	T	0.89581	0.63671	D	0.08189652	0.18840	0.06625553	0.13548	0.08189652	0.18840	0.06625553	0.13547	-3.67	0.19688	T	.	.	0.112	0.22061	B	.;.;.;.	.;.;.;.	2.599252	0.33735	19.43	0.9747580135263203	0.34162	0.46773	0.27834	N	AEFBI	0.125411	0.24191	N	-0.046733103587956	0.39749	2.349084	-0.223256614156071	0.30704	1.731112	0.346733868523562	0.19640	0.638212	0.43195	0	0.601575	0.49859	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.47	3.51	0.39297	1.188000	0.31711	1.174000	0.24646	0.599000	0.40250	0.006000	0.17386	0.215000	0.23672	0.051000	0.15275	0.0:0.8286:0.0:0.1714	10.769	0.45514	920	0.19381	Glycosyl hydrolase family 59, central 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	.	.	.	.	.	.	.	.	0.05556	115.05	36	chr14	87947872	.	C	A	115.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.378;DP=337;ExcessHet=0;FS=15.862;InbreedingCoeff=-0.0813;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=3.97;ReadPosRankSum=3.15;SOR=4.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,7:29:99:0|1:87947872_C_A:126,0,639:87947872	8	0	1	1
chr14	87947880	87947880	T	G	splicing	GALC	NM_000153:exon13:c.1339-2A>C;NM_001201402:exon13:c.1261-2A>C;NM_001201401:exon12:c.1270-2A>C	.	.	Krabbe disease, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.804	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.048355	0.96078	35	0.96312423662121505	0.29387	0.90279	0.51329	D	AEFBI	.	.	.	0.834703617961455	0.88221	9.49745	0.637691033602847	0.77695	6.729492	0.662390159466227	0.22285	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.057018	0.00518	0	0.774629	0.45842	6.11	3.66	0.41111	2.105000	0.41449	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.1223:0.0:0.127:0.7507	8.987	0.35161	920	0.19381	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	310.75	36	chr14	87947880	.	T	G	310.75	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-0.474;DP=295;ExcessHet=1.8123;FS=100.949;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=2.37;ReadPosRankSum=2.59;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,7:28:99:0|1:87947872_C_A:129,0,599:87947872	4	0	4	2
chr14	91621619	91621619	C	T	exonic	CATSPERB	.	nonsynonymous SNV	CATSPERB:NM_024764:exon19:c.G2249A:p.R750Q	.	451	1067	4	0	0	4	0.00187091	.	.	.	2266665	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.104	0.016317631134	.	.	4.395e-05	0	0	0.0002	0	1.54e-05	0	0.0002	3.88e-05	6	154602	rs778453509	2.437e-05	2.599e-05	2.213e-05	2.664e-05	0.0005	1.769e-05	1.566e-05	0.0001	7.891e-05	6.18e-05	2.476e-05	0	0.0002	0	0.0005	1.638e-05	1.689e-05	4.834e-05	4.602e-05	4.597e-05	6.425e-05	2.692e-05	7.35e-05	2.11e-05	1.527e-05	2.846e-05	1.858e-05	2.415e-05	0	6.548e-05	0	0	0	0	7.35e-05	0	0	0.382	0.11120	T	0.203	0.27325	T	0.864	0.47514	P	0.211	0.37346	B	0.001922	0.37643	N	0.120245	1	0.08975	N	0.69	0.16971	N	0.97	0.42502	T	0.47	0.03090	N	0.038	0.01203	-1.0847	0.06462	T	0.067	0.27399	T	10	0.07281858	0.10920	T	0.016318	0.37519	T	0.104	0.29647	0.429	0.47680	0.326616659874	0.32268	0.5734527423403922	0.57274	0.240805086689	0.26615	0.309206366539	0.11787	T	0.021431	0.16689	T	-0.543839	0.00318	T	-0.684813	0.06694	T	0.0460287160931548	0.04790	T	.	.	.	0.032679223	0.03340	0.036305644	0.03051	0.032679223	0.03339	0.036305644	0.03050	-3.874	0.21913	T	.	.	0.082	0.08705	B	.	.	2.191186	0.27940	17.63	0.98344977505812115	0.40477	0.33974	0.24957	N	AEFDHI	0.093914	0.18995	N	-0.481017583089209	0.22704	1.214148	-0.497730283687909	0.22216	1.205598	0.00670195099382906	0.11287	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.43	3.59	0.40253	1.922000	0.39675	3.149000	0.36517	-1.388000	0.01152	0.989000	0.36753	0.999000	0.35428	0.003000	0.05239	0.0:0.3415:0.6585:0.0	12.437	0.54941	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	.	.	.	.	.	.	.	.	0.05	1363.43	33	chr14	91621619	.	C	T	1363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.19;DP=461;ExcessHet=0;FS=3.12;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=-0.535;SOR=0.968	GT:AD:DP:GQ:PL	0/1:85,57:142:99:1375,0,2027	9	0	1	0
chr14	92652445	92652445	A	C	exonic	RIN3	.	nonsynonymous SNV	RIN3:NM_001319987:exon5:c.A1171C:p.I391L,RIN3:NM_024832:exon6:c.A1396C:p.I466L	.	421	1036	60	5	0	70	0.0326797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00309365121416	0.0025	0.00299521	0.0036	0.0002	0.0029	0.0001	0.0002	0.0036	0.0033	0.0093	0.0005563	86	154602	rs139248637	0.0029	0.0029	0.0025	0.0033	0.0260	0.0028	0.0028	0.0226	0.0213	0.0004	0.0020	0.0085	0	0.0002	0.0260	0.0023	0.0039	0.0106	0.0024	0.0024	0.0024	0.0024	0.0077	0.0022	0.0021	0.0057	0.0051	0.0004	0	0.0018	0.0115	0	0.0002	0.0136	0.0033	0.0061	0.0077	0.422	0.09776	T	0.704	0.05642	T	0.001	0.07471	B	0.001	0.04355	B	0.190221	0.03245	N	1.726180	1	0.08975	N	1.7	0.43825	L	3.48	0.05130	T	-0.4	0.13805	N	0.138	0.17553	-0.9801	0.34979	T	0.009	0.03448	T	10	0.004621327	0.00096	T	0.003094	0.06696	T	0.045	0.12272	.	.	0.158396225186	0.15383	0.07307677932850949	0.07244	0.267599257895	0.29301	0.362659394741	0.19772	T	9.89E-4	0.05002	T	-0.684917	0.00045	T	-0.74865	0.03539	T	0.00979248961840315	0.00129	T	0.549145	0.18877	T	0.091709405	0.21496	0.053237252	0.08929	0.091709405	0.21496	0.053237252	0.08928	-6.483	0.50155	T	.	.	0.086	0.37501	B	.;.	.;.	0.208994	0.05926	2.368	0.79575064024098185	0.12804	0.03045	0.07938	N	AEFDGBHCI	0.063993	0.12399	N	-1.05714071227082	0.07448	0.3460229	-1.07116832256243	0.08271	0.405983	0.999999968999082	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.22	-3.16	0.04897	-0.702000	0.05171	0.316000	0.17134	-0.113000	0.14837	0.154000	0.23713	0.652000	0.25970	0.297000	0.24428	0.1825:0.2771:0.438:0.1024	4.308	0.10399	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	0.017137	0.000000	0.009511	0.023392	0.050000	0.017241	0.027439	0.018939	0.1	1946.14	38	chr14	92652445	.	A	C	1946.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.44;DP=535;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=0.907;SOR=0.697	GT:AD:DP:GQ:PL	0/1:48,38:86:99:892,0,1223	8	0	2	0
chr14	93947488	93947488	C	T	exonic	ASB2	.	nonsynonymous SNV	ASB2:NM_016150:exon5:c.G769A:p.A257T,ASB2:NM_001202429:exon7:c.G913A:p.A305T	.	.	.	.	.	.	.	.	.	.	.	2245426	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.255	0.0420654982733	.	.	1.648e-05	9.614e-05	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs750583189	1.026e-05	1.026e-05	1.225e-05	8.251e-06	5.038e-05	6.16e-06	4.89e-06	8.35e-06	3.12e-06	2.987e-05	2.236e-05	0	5.038e-05	1.875e-05	0	8.093e-06	0	1.159e-05	3.284e-05	3.283e-05	3.853e-05	2.689e-05	0.0002	1.261e-05	7.98e-06	1.918e-05	1.032e-05	7.234e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.027	0.47745	D	0.127	0.35082	T	1.0	0.90584	D	0.979	0.74454	D	0.000000	0.84330	D	0.052196	0.997719	0.44125	D	1.755	0.45626	L	-0.09	0.64086	T	-2.42	0.53096	N	0.305	0.34444	-0.6606	0.62249	T	0.269	0.64013	T	10	0.31506133	0.48941	T	0.042065	0.60266	D	0.255	0.56562	.	.	0.722883172842	0.72043	0.5073994109247214	0.50661	2.08941836619	0.94716	0.557665526867	0.46938	T	0.221235	0.58474	T	-0.230875	0.16532	T	-0.332744	0.41164	T	0.332584738731384	0.26328	T	.	.	.	0.34769416	0.56887	0.22111481	0.46910	0.34769416	0.56887	0.22111481	0.46909	.	.	.	.	.	0.724	0.74570	P	.;.;.	.;.;.	4.389664	0.67730	25.1	0.99897937133053738	0.97048	0.84946	0.44043	D	AEFDGBI	0.311151	0.41697	N	0.149334630351623	0.48782	3.086159	0.131227289872621	0.46155	2.866155	0.999999987432011	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.573078	0.19857	0	0.567339	0.31927	0	.	.	5.19	5.19	0.71428	2.664000	0.46448	5.893000	0.50786	0.524000	0.24156	0.984000	0.35821	1.000000	0.68203	0.107000	0.18608	0.0:1.0:0.0:0.0	18.717	0.91643	379	0.83778	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1994.43	37	chr14	93947488	.	C	T	1994.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.558;DP=506;ExcessHet=0;FS=1.14;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-2.442;SOR=0.805	GT:AD:DP:GQ:PL	0/1:98,90:188:99:2006,0,2203	9	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4095.04	116	chr14	94497802	.	C	T	4095.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.987;DP=1206;ExcessHet=22.563;FS=233.998;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.59;ReadPosRankSum=0.204;SOR=12.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,20:81:99:0|1:94497802_C_T:141,0,1728:94497802	0	0	10	0
chr14	94497803	94497803	C	G	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G595C:p.G199R,SERPINA12:NM_001382267:exon2:c.G595C:p.G199R,SERPINA12:NM_173850:exon3:c.G595C:p.G199R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0338676746747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.857e-07	6.84e-07	1.364e-06	0	2.267e-05	0	0	.	.	0	2.267e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.54	0.09760	T	0.172	0.28767	B	0.115	0.31843	B	0.251813	0.15493	N	0.613802	1	0.08975	N	1.43	0.35840	L	-2.28	0.87512	D	-2.7	0.57599	D	0.145	0.14622	-0.7398	0.58463	T	0.386	0.74150	T	10	0.071498126	0.10548	T	0.033868	0.55283	D	0.145	0.38592	0.491	0.57732	0.296329037015	0.29243	0.6547714582531228	0.65413	0.17525157231	0.19731	0.369718432426	0.20792	T	0.047171	0.27643	T	-0.126477	0.32067	T	-0.336586	0.40731	T	0.715756177902222	0.41485	D	0.756024	0.37907	T	0.38583905	0.59736	0.29259723	0.55287	0.38583905	0.59736	0.29259723	0.55286	-2.678	0.07120	T	.	.	0.263	0.53064	B	.;.	.;.	2.036488	0.25887	16.92	0.96925687929522253	0.31636	0.12320	0.17196	N	AEFCI	0.146063	0.26942	N	-0.75468411629497	0.14505	0.7231708	-0.729290243828485	0.16234	0.8577662	0.0138235968800036	0.12515	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.68	0.30839	-0.429000	0.07051	0.818000	0.21820	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.780000	0.36908	0.0:0.5781:0.133:0.2889	6.189	0.19728	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	.	.	.	.	.	.	.	.	0.05	129.43	38	chr14	94497803	.	C	G	129.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.807;DP=658;ExcessHet=0;FS=66.741;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.6;ReadPosRankSum=1.43;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,20:81:99:0|1:94497802_C_T:141,0,1728:94497802	9	0	1	0
chr14	104945711	104945711	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A9440G:p.D3147G,AHNAK2:NM_138420:exon7:c.A9740G:p.D3247G	.	437	1064	20	1	0	22	0.0102326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00160606406043	.	0.000599042	0.0006	0	0.0009	0	0	0.0004	0.0011	0.0018	0.0005045	78	154602	rs200045846	0.0003	0.0004	0.0002	0.0004	0.0049	0.0003	0.0003	0.0035	0.0030	2.988e-05	0.0005	0	0	0	0.0049	0.0002	0.0007	0.0016	0.0002	0.0003	0.0003	0.0002	0.0012	0.0002	0.0001	0.0005	0.0003	0	0	0.0002	0	0	0	0	0.0004	0.0005	0.0012	0.022	0.48642	D	0.061	0.45530	T	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	2.795	0.81503	M	4.56	0.01933	T	-3.73	0.70920	D	0.205	0.22742	-1.1040	0.03640	T	0.036	0.15553	T	9	0.017894953	0.00385	T	0.001606	0.02574	T	0.069	0.20116	.	.	0.107399877778	0.10242	0.019300944833428736	0.01884	.	.	0.214619427919	0.01022	T	0.111464	0.42697	T	-0.454045	0.01069	T	-0.432244	0.29680	T	0.155301952476957	0.17518	T	0.668433	0.27736	T	0.11593374	0.27352	0.11815223	0.28522	0.11593374	0.27352	0.11815223	0.28522	-8.936	0.67284	D	.	.	0.179	0.39047	B	.	.	2.686068	0.35051	19.79	0.98138199759592337	0.38580	0.15688	0.19033	N	AEFBI	.	.	.	-0.0467745553855719	0.39747	2.348942	-0.350656538561117	0.26488	1.463424	2.72927506228462E-4	0.06300	0.732398	0.92422	0	0.588066	0.40923	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	2.95	2.95	0.33285	4.109000	0.57562	-2.102000	0.04210	0.603000	0.45986	0.248000	0.24829	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.1821:0.8179	9.203	0.36433	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	0.003755	0.000000	0.005450	0.000000	0.000000	0.000000	0.000000	0.007692	0.05	533.43	75	chr14	104945711	.	T	C	533.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=1420;ExcessHet=0;FS=11.329;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.67;MQRankSum=-9.259;QD=5.18;ReadPosRankSum=3.19;SOR=2.063	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,20:103:99:0|1:104945711_T_C:545,0,3259:104945711	9	0	1	0
chr14	104946203	104946204	AC	-	exonic	AHNAK2	.	frameshift deletion	AHNAK2:NM_001350929:exon7:c.8947_8948del:p.V2983Qfs*80,AHNAK2:NM_138420:exon7:c.9247_9248del:p.V3083Qfs*80	.	429	1073	19	1	0	21	0.00969082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0002	0.0012	0.0007	3.84e-05	1	26028	rs757107721	0.0003	0.0004	0.0002	0.0004	0.0059	0.0003	0.0003	0.0043	0.0038	3.003e-05	0.0005	0	0	0	0.0059	0.0002	0.0007	0.0017	0.0003	0.0004	0.0003	0.0003	0.0011	0.0002	0.0002	0.0004	0.0003	0	0	0.0005	0	0	9.656e-05	0	0.0004	0.0005	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2338.39	82	chr14	104946202	.	GAC	G	2338.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=1528;ExcessHet=0;FS=1.162;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.79;MQRankSum=-12.54;QD=11.35;ReadPosRankSum=-0.567;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,66:206:99:0|1:104946202_GAC_G:2350,0,5680:104946202	9	0	1	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	51553.8	187	chr14	104946204	.	C	*	51553.8	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.212;DP=2060;ExcessHet=2.8389;FS=1.155;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=50.7;MQRankSum=-11.62;QD=25.83;ReadPosRankSum=0.055;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,66:206:99:0|1:104946202_GAC_G:2350,0,5680:104946202	9	0	1	0
chr14	104946206	104946206	-	GC	exonic	AHNAK2	.	frameshift insertion	AHNAK2:NM_001350929:exon7:c.8944_8945insGC:p.D2982Gfs*10,AHNAK2:NM_138420:exon7:c.9244_9245insGC:p.D3082Gfs*10	.	430	1071	20	1	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0002	0.0012	0.0008	3.84e-05	1	26028	rs745545429	0.0003	0.0004	0.0002	0.0004	0.0060	0.0003	0.0003	0.0044	0.0038	3.011e-05	0.0005	0	0	0	0.0060	0.0002	0.0007	0.0017	0.0003	0.0004	0.0003	0.0003	0.0012	0.0002	0.0002	0.0005	0.0003	0	0	0.0006	0	0	9.779e-05	0	0.0004	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2464.39	169	chr14	104946206	.	T	TGC	2464.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.22;DP=1859;ExcessHet=0;FS=1.15;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.45;MQRankSum=-12.66;QD=11.79;ReadPosRankSum=-0.81;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,69:209:99:0|1:104946202_GAC_G:2476,0,5671:104946202	9	0	1	0
chr14	104950043	104950043	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T5108C:p.V1703A,AHNAK2:NM_138420:exon7:c.T5408C:p.V1803A	.	440	1056	25	1	0	27	0.0126227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.00958466	0.0009	0.0049	0.0005	0.0014	0	0.0003	0.0023	0.0010	0.0012613	195	154602	rs145652874	0.0009	0.0026	0.0009	0.0009	0.0159	0.0009	0.0008	0.0148	0.0143	0.0159	0.0020	0.0002	0.0020	0.0002	0.0032	0.0003	0.0019	0.0015	0.0071	0.0099	0.0075	0.0068	0.0241	0.0068	0.0066	0.0228	0.0222	0.0241	0	0.0037	0	0.0021	0	0.0072	0.0004	0.0082	0.0005	0.823	0.02936	T	0.538	0.09829	T	0.01	0.15535	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.23	0.00807	N	5.95	0.00612	T	0.83	0.01787	N	0.023	0.00407	-0.9457	0.41698	T	0.000	0.00075	T	9	0.0042342544	0.00085	T	.	.	.	0.014	0.01968	.	.	0.0138822411134	0.00435	0.003104252817684476	0.00289	.	.	0.205832988024	0.00647	T	0.016131	0.13395	T	-0.741744	0.00020	T	-0.819986	0.01452	T	0.0039249460276532	0.00042	T	0.174383	0.01678	T	0.016648958	0.00212	0.028164823	0.01028	0.016648958	0.00212	0.028164823	0.01028	0.606	0.00192	T	.	.	0.074	0.05231	B	.	.	-1.605512	0.00237	0.004	0.24895953066776089	0.01122	0.00079	0.00540	N	AEFBI	.	.	.	-2.08541276212991	0.00138	0.005898899	-2.17211708655396	0.00129	0.005680874	0.00857578015082789	0.11701	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	2.02	-4.05	0.03730	-5.785000	0.00119	-12.495000	0.00521	-2.579000	0.00240	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4939:0.1884:0.3176:0.0	3.928	0.08771	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	0.010787	0.036082	0.001362	0.008333	0.000000	0.008621	0.013072	0.003846	0.15	12264.4	616	chr14	104950043	.	A	G	12264.4	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.713;DP=2357;ExcessHet=0;FS=0;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=58.03;MQRankSum=-22.59;QD=13.72;ReadPosRankSum=-6.119;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,278:278:99:1|1:104950030_A_C:12077,837,0:104950030	8	1	1	0
chr14	104994748	104994748	G	A	exonic	CLBA1	.	nonsynonymous SNV	CLBA1:NM_174891:exon5:c.G967A:p.D323N	.	411	1096	14	1	0	16	0.00724638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00317260751494	8.3e-05	0.000599042	0.0005	0	0.0006	0	0	0.0004	0	0.0016	0.0004722	73	154602	rs200272722	0.0003	0.0003	0.0002	0.0004	0.0062	0.0003	0.0003	0.0046	0.0040	3.085e-05	0.0005	0	0	0	0.0062	0.0002	0.0007	0.0018	0.0003	0.0003	0.0002	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	2.406e-05	0	0.0004	0	0	9.416e-05	0	0.0003	0.0009	0.0025	0.507	0.08762	T	0.412	0.14456	T	0.606	0.39465	P	0.031	0.21939	B	0.936976	0.08380	N	0.959023	1	0.08975	N	.	.	.	.	.	.	-1.65	0.47008	N	0.059	0.04188	-1.0289	0.20811	T	0.030	0.12804	T	9	0.006056577	0.00136	T	0.003173	0.06936	T	0.051	0.14325	.	.	0.0297737177859	0.01360	0.24883442652854282	0.24797	0.117908866914	0.13276	.	.	.	0.072555	0.34482	T	-0.591096	0.00165	T	-0.646472	0.09203	T	0.014728854302732	0.00307	T	0.536546	0.19140	T	0.059315845	0.12040	0.034095634	0.02415	0.059315845	0.12039	0.034095634	0.02415	-3.299	0.13724	T	.	.	0.145	0.31980	B	.;.;.	.;.;.	0.204959	0.05893	2.333	0.85221806567649572	0.15760	0.05460	0.11339	N	AEFBCI	0.025915	0.01855	N	-0.998479758405893	0.08637	0.4056948	-1.09236291925277	0.07850	0.3835069	0.999396745369358	0.39470	0.651	0.46895	0	0.588066	0.40923	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	3.67	-0.564	0.11185	-0.027000	0.12319	0.989000	0.23179	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.4312:0.0:0.5688:0.0	7.000	0.23982	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	0.004028	0.000000	0.005435	0.005848	0.000000	0.000000	0.000000	0.003788	0.05	991.43	39	chr14	104994748	.	G	A	991.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.929;DP=444;ExcessHet=0;FS=1.701;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.307;SOR=0.526	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1003,0,1006	9	0	1	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.95	18756.2	63	chr15	22081297	.	T	C	18756.2	.	AC=19;AF=0.95;AN=20;BaseQRankSum=7.91;DP=859;ExcessHet=0;FS=81.645;InbreedingCoeff=-0.0526;MLEAC=19;MLEAF=0.95;MQ=36.89;MQRankSum=-2.175;QD=23.98;ReadPosRankSum=1.65;SOR=5.13	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1855,171,0	0	9	1	0
chr15	22607800	22607800	C	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon18:c.G1723C:p.D575H	.	422	1046	50	4	0	58	0.0269767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440398018	0.0008	0.0030	0.0006	0.0010	0.0050	0.0007	0.0007	0.0046	0.0044	0.0001	0.0012	0.0003	0.0005	0.0007	0.0003	0.0005	0.0006	0.0050	0.0021	0.0058	0.0020	0.0022	0.0033	0.0019	0.0018	0.0026	0.0023	0.0014	0	0.0033	0.0018	0.0031	0.0024	0	0.0023	0.0027	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	51.46	16	chr15	22607800	.	C	G	51.46	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.71;DP=148;ExcessHet=0;FS=8.506;InbreedingCoeff=-0.0557;MLEAC=1;MLEAF=0.05;MQ=25.23;MQRankSum=-1.647;QD=1.66;ReadPosRankSum=0.35;SOR=3.185	GT:AD:DP:GQ:PL	0/1:25,6:31:63:63,0,647	9	0	1	0
chr15	22768405	22768425	CCCCATCTGCTCCTCCTGCTT	-	exonic	GOLGA6L7	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0002	0.0001	9.823e-05	0.0003	7.346e-05	5.861e-05	8.918e-05	6.756e-05	3.101e-05	0	0	0.0006	0.0003	0	0	0.0002	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	73.35	5	chr15	22768404	.	CCCCCATCTGCTCCTCCTGCTT	C	73.35	.	AC=2;AF=0.111;AN=18;DP=25;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=59.34;QD=32.86;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:88,6,0	8	1	0	1
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14334.1	129	chr15	23440492	.	C	*	14334.1	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.467;DP=1215;ExcessHet=0;FS=0.964;InbreedingCoeff=-0.0526;MLEAC=10;MLEAF=0.5;MQ=58.42;MQRankSum=-0.924;QD=12.2;ReadPosRankSum=0.063;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,23:91:99:.:.:779,0,2042:.	0	0	10	0
chr15	23441505	23441505	G	A	exonic	GOLGA6L2	.	stopgain	GOLGA6L2:NM_001304388:exon8:c.C970T:p.R324X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472866797	1.764e-05	2.409e-05	2.211e-05	1.303e-05	6.995e-05	1.155e-05	9.86e-06	1.243e-05	1.001e-05	0	0	0	6.995e-05	0	0	1.943e-05	1.98e-05	0	1.408e-05	2.043e-05	1.374e-05	1.444e-05	3.082e-05	2.34e-06	8.8e-07	5.11e-06	1.91e-06	0	0	0	0	0	0	0	3.082e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11613	0.65982	D	-0.0709633	0.65557	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.	High;.	4.745730	0.76578	26.5	0.98731983150721969	0.45363	0.00042	0.00346	N	AEFBI	0.021623	0.00984	N	0.0797122148138157	0.45516	2.806909	-0.300301671662278	0.28090	1.563428	1.64775418838586E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	.	.	.	-0.059000	0.11688	-7.220000	0.01204	-1.049000	0.01645	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	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	.	.	.	.	.	.	.	.	0.05	31.43	42	chr15	23441505	.	G	A	31.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.111;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=1.69;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,4:29:43:0|1:23441505_G_A:43,0,946:23441505	9	0	1	0
chr15	32636795	32636795	T	G	exonic	ARHGAP11A	.	nonsynonymous SNV	ARHGAP11A:NM_001286479:exon12:c.T1455G:p.F485L,ARHGAP11A:NM_014783:exon12:c.T2022G:p.F674L,ARHGAP11A:NM_001286480:exon13:c.T1455G:p.F485L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00363863242236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	1.368e-06	2.728e-06	0	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.993	0.02366	T	0.88	0.03558	T	0.001	0.07471	B	0.001	0.04355	B	0.653343	0.10493	N	0.838762	1	0.08975	N	0.85	0.21244	L	3.1	0.08283	T	-0.52	0.16187	N	0.041	0.03613	-0.9160	0.46090	T	0.012	0.04463	T	10	0.030726612	0.01201	T	0.003639	0.08371	T	0.021	0.04004	0.316	0.29258	0.229924730088	0.22615	0.10233617887890724	0.10163	0.0353957791626	0.03735	0.277060091496	0.07086	T	0.008735	0.08002	T	-0.386885	0.02817	T	-0.79351	0.02070	T	0.0359022382229596	0.02964	T	0.514549	0.16570	T	0.031059848	0.02878	0.027642746	0.00932	0.031059848	0.02878	0.027642746	0.00932	-2.657	0.06949	T	.	.	0.254	0.59595	B	.;.;.	.;.;.	0.375174	0.07474	4.112	0.73584055475571952	0.10381	0.07179	0.13204	N	AEFGBI	0.111011	0.21994	N	-1.12109093715767	0.06269	0.2881277	-1.13579913227194	0.07025	0.3402416	0.999911088882851	0.45857	0.706548	0.73137	0	0.601644	0.50151	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.91	-0.845	0.10194	-0.158000	0.10058	-0.997000	0.06659	0.665000	0.62972	0.051000	0.21449	0.000000	0.08366	0.706000	0.34326	0.1289:0.3192:0.3807:0.1712	2.905	0.05367	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1200.43	34	chr15	32636795	.	T	G	1200.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.333;DP=404;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.862;SOR=0.79	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1212,0,1231	9	0	1	0
chr15	33153237	33153237	G	A	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001277313:exon4:c.C1678T:p.R560C,FMN1:NM_001277314:exon4:c.C1678T:p.R560C	.	434	1080	8	0	0	8	0.00369004	.	.	.	779769	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.098	.	.	0.00439297	0.0056	0.0036	0	0	0.0187	0.0100	0.0070	0.0033	0.0018176	281	154602	rs149624435	0.0063	0.0059	0.0065	0.0061	0.0099	0.0062	0.0061	0.0091	0.0087	0.0009	0.0099	0.0093	0	0.0157	0.0044	0.0064	0.0075	0.0025	0.0061	0.0061	0.0053	0.0070	0.0138	0.0058	0.0057	0.0123	0.0117	0.0011	0	0.0138	0.0081	0	0.0138	0.0068	0.0069	0.0104	0.0015	0.057	0.48186	T	0.056	0.51737	T	.	.	.	.	.	.	0.683920	0.10235	N	0.840853	.	.	.	-0.69	0.01958	N	0.9	0.45248	T	-1.47	0.54864	N	0.062	0.10911	-1.0424	0.16592	T	0.018	0.07282	T	8	0.0029478967	0.00048	T	.	.	.	0.098	0.28162	.	.	0.0986583533028	0.09354	0.1563622743832897	0.15557	.	.	0.225566387177	0.01656	T	0.261883	0.63340	T	-0.675925	0.00051	T	-0.735734	0.04072	T	0.0254012594162825	0.01326	T	.	.	.	0.059815276	0.12200	0.046990823	0.06672	0.059815276	0.12199	0.046990823	0.06672	-4.606	0.35373	T	.	.	0.090	0.22282	B	.;.;.;.	.;.;.;.	0.485703	0.08551	5.315	0.97901653358067131	0.36745	0.02839	0.07588	N	AEFBI	0.091391	0.18511	N	-1.60297213677561	0.01249	0.05437208	-1.66272089822625	0.01311	0.05916885	0.999998174442678	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.05	-6.15	0.01925	-2.329000	0.01192	-2.919000	0.03230	-0.777000	0.03376	0.000000	0.06391	0.000000	0.08366	0.152000	0.20376	0.2522:0.2236:0.1851:0.3391	0.195	0.00129	895	0.25842	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1807.43	33	chr15	33153237	.	G	A	1807.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=450;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.57;SOR=0.707	GT:AD:DP:GQ:PL	0/1:62,74:136:99:1819,0,1328	9	0	1	0
chr15	34102535	34102535	T	A	exonic	PGBD4	.	nonsynonymous SNV	PGBD4:NM_152595:exon1:c.T4A:p.S2T	.	490	1030	0	2	0	4	0.00193798	.	.	.	2379911	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.00431174868588	0.0002	0.000399361	0.0004	0.0005	0	0	0	0.0006	0	0	9.7e-05	15	154602	rs373391573	0.0001	0.0001	0.0001	0.0001	0.0041	9.749e-05	9.247e-05	0.0026	0.0022	0.0003	0.0002	8.734e-05	0	0	0.0041	9.492e-05	0.0002	8.078e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.655e-05	7.249e-05	0.0001	8.876e-05	2.405e-05	0	0.0002	0	0	0	0.0034	0.0002	0.0009	0	0.0	0.91255	D	0.0	0.92824	D	0.805	0.45210	P	0.483	0.47159	P	0.060405	0.02133	U	9.654370	1	0.08975	N	0	0.06538	N	2.21	0.18414	T	-0.65	0.18877	N	0.161	0.16864	-1.0439	0.16148	T	0.030	0.12804	T	10	0.058288604	0.06830	T	0.004312	0.10467	T	0.047	0.12962	.	.	0.0482279557977	0.04254	0.043267185638199174	0.04271	0.360697941279	0.37734	0.567278265953	0.48293	T	0.010844	0.09750	T	-0.464176	0.00925	T	-0.599986	0.12812	T	0.0518348508633186	0.05818	T	0.274673	0.04684	T	0.17557615	0.38423	0.13971719	0.33326	0.17557615	0.38422	0.13971719	0.33326	-5.808	0.44644	T	.	.	0.099	0.16800	B	.	.	1.417007	0.18331	13.68	0.89362726731431896	0.18732	0.04678	0.10359	N	AEFGBCI	0.039064	0.05622	N	-0.59726482704396	0.19028	0.9926387	-0.732945947787732	0.16142	0.8525335	0.999993278311695	0.74766	0.493124	0.18060	0	0.587265	0.34161	0	0.043771	0.00183	3	0.665054	0.64577	0	.	.	0.793	0.793	0.17776	0.476000	0.21890	0.674000	0.20619	0.349000	0.19912	0.338000	0.25657	0.855000	0.27430	0.112000	0.18829	0.0:0.0:0.0:1.0	3.830	0.08383	776	0.48302	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003080	0.010309	0.002725	0.009375	0.000000	0.000000	0.000000	0.000000	0.05	785.43	36	chr15	34102535	.	T	A	785.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=392;ExcessHet=0;FS=0.88;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.234;SOR=0.824	GT:AD:DP:GQ:PL	0/1:41,34:75:99:797,0,923	9	0	1	0
chr15	40902923	40902923	G	A	exonic	VPS18	.	nonsynonymous SNV	VPS18:NM_020857:exon5:c.G2504A:p.R835Q	.	423	1098	1	0	0	1	0.000455166	.	.	.	3491374	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00477425958629	0.0005	.	0.0003	0	0	0	0.0002	0.0005	0.0011	0	0.0002717	42	154602	rs200156144	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	5.974e-05	0.0001	0	0	1.873e-05	0.0003	0.0005	0.0003	2.319e-05	0.0002	0.0002	0.0003	0.0002	0.0005	0.0002	0.0001	0.0004	0.0003	2.411e-05	0	0	0	0	0	0	0.0005	0	0	0.341	0.12673	T	0.406	0.14725	T	0.0	0.02946	B	0.001	0.04355	B	0.003752	0.34535	N	0.292780	0.909388	0.27539	N	-0.565	0.02318	N	1.02	0.40749	T	0.89	0.01641	N	0.137	0.13484	-1.0710	0.09194	T	0.034	0.14769	T	10	0.02867952	0.00998	T	0.004774	0.11910	T	0.071	0.20720	.	.	0.082315109003	0.07666	0.16780296062368244	0.16700	0.421723341277	0.42675	0.437890708447	0.30290	T	0.034749	0.23446	T	-0.554562	0.00274	T	-0.682648	0.06822	T	0.0461695204262542	0.04815	T	0.824018	0.48536	T	0.043190714	0.06686	0.042348504	0.05024	0.043190714	0.06685	0.042348504	0.05024	-3.112	0.11434	T	.	.	0.063	0.01408	B	.	.	3.190262	0.43345	21.7	0.99227949580435149	0.56120	0.85086	0.44190	D	AEFDGBCIJ	.	.	.	-0.393186115568472	0.25711	1.397752	-0.131578729707392	0.34124	1.95948	0.99999990218152	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.76	3.89	0.44098	5.314000	0.65589	6.486000	0.55748	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.3717:0.0:0.6283:0.0	5.380	0.15485	188	0.92666	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	5711.14	38	chr15	40902923	.	G	A	5711.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.71;DP=679;ExcessHet=0.2348;FS=2.216;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=1.31;SOR=0.723	GT:AD:DP:GQ:PL	0/1:78,110:188:99:2895,0,1727	8	0	2	0
chr15	42417393	42417393	G	C	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.743e-06	0.0001	0	5.513e-06	3.606e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.606e-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	.	.	.	.	.	.	.	.	0.1111	444.47	69	chr15	42417393	.	G	C	444.47	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-1.36;DP=504;ExcessHet=1.5895;FS=199.83;InbreedingCoeff=-0.3005;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=2.18;ReadPosRankSum=1.27;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,7:57:50:0|1:42417393_G_C:50,0,1667:42417393	7	0	2	1
chr15	43599215	43599215	G	A	exonic	CKMT1B	.	nonsynonymous SNV	CKMT1B:NM_001375484:exon9:c.G1196A:p.R399H,CKMT1B:NM_020990:exon10:c.G1196A:p.R399H	.	419	1059	43	1	0	45	0.0208044	.	.	.	703223	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.141	.	0.0061	0.0117812	0.0067	0.0052	0.0031	0	0.0005	0.0059	0.0088	0.0195	0.0061836	956	154602	rs149544188	0.0070	0.0070	0.0065	0.0075	0.0190	0.0069	0.0068	0.0183	0.0180	0.0039	0.0029	0.0011	2.519e-05	0.0006	0.0106	0.0070	0.0065	0.0190	0.0059	0.0059	0.0058	0.0060	0.0219	0.0056	0.0054	0.0185	0.0172	0.0050	0.0154	0.0045	0.0017	0.0002	0.0003	0.0068	0.0071	0.0033	0.0219	0.011	0.55530	D	0.048	0.48594	D	.	.	.	.	.	.	0.000043	0.53742	D	0.156324	0.999779	0.81001	D	.	.	.	2.73	0.11839	T	-2.43	0.53258	N	0.456	0.49328	-1.0646	0.10642	T	0.028	0.11795	T	10	0.012996405	0.00277	T	.	.	.	0.141	0.37795	.	.	0.440077040801	0.43627	0.5025941048459912	0.50181	1.05160835918	0.76172	0.5574041605	0.46901	T	.	.	.	-0.426914	0.01548	T	-0.371073	0.36763	T	0.0285378306420102	0.01766	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.059779	0.84328	28.3	0.99341316789047662	0.60170	0.97026	0.72262	D	AEFGI	0.783221	0.71427	D	0.153610576451665	0.48984	3.103933	0.208122804756733	0.50297	3.223305	0.0384732486356425	0.14349	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.03	4.03	0.46115	2.516000	0.45181	10.006000	0.83069	0.616000	0.49467	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	15.682	0.77130	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	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	0.014099	0.000000	0.006793	0.020468	0.000000	0.008621	0.018293	0.034091	0.05	1880.43	38	chr15	43599215	.	G	A	1880.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.049;DP=552;ExcessHet=0;FS=1.257;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.62;MQRankSum=-0.487;QD=11.83;ReadPosRankSum=-0.235;SOR=0.85	GT:AD:DP:GQ:PL	0/1:75,84:159:99:1892,0,1634	9	0	1	0
chr15	43600609	43600609	G	A	exonic	STRC	.	nonsynonymous SNV	STRC:NM_153700:exon26:c.C4918T:p.L1640F	Deafness, autosomal recessive 16, Autosomal recessive	2	1497	23	0	0	23	0.00762347	.	.	YES	404821	Autosomal_recessive_nonsyndromic_hearing_loss_16|STRC-related_disorder|not_provided	MONDO:MONDO:0011364,MedGen:C1863561,OMIM:603720,Orphanet:90636|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.300	0.808498870046	.	0.000798722	0.0011	0.0003	0.0014	0	0	0.0017	0	0.0001	0.0009638	149	154602	rs2920791	0.0018	0.0040	0.0019	0.0018	0.0022	0.0018	0.0018	0.0021	0.0021	0.0003	0.0021	0	5.039e-05	0.0001	0.0003	0.0022	0.0017	0.0007	0.0017	0.0032	0.0020	0.0015	0.0034	0.0016	0.0015	0.0024	0.0023	0.0006	0.0033	0.0019	0	0.0002	9.457e-05	0	0.0027	0.0024	0.0034	0.079	0.33753	T	0.0	0.92824	D	0.946	0.53363	P	0.838	0.60045	P	0.004362	0.33816	N	0.117372	1	0.81001	D	.	.	.	-1.26	0.79176	T	-1.11	0.28703	N	0.299	0.38746	-0.0907	0.80312	T	0.479	0.80068	T	9	0.08820775	0.15166	T	0.808499	0.98506	D	0.300	0.62068	.	.	0.76847438456	0.76635	0.49283764366253	0.49204	.	.	0.574232280254	0.49274	T	0.187283	0.54084	T	-0.330416	0.06081	T	-0.25418	0.49404	T	0.0681458239434558	0.08389	T	0.610839	0.23175	T	0.06872743	0.14997	0.10154782	0.24314	0.0781299	0.17774	0.11947969	0.28838	-10.218	0.75206	D	0.7662668044665778	0.84763	0.625	0.69922	P	.;.	.;.	4.458066	0.69356	25.4	0.99831891262176153	0.91370	0.60594	0.31240	D	AEFBI	0.303605	0.41153	N	0.349410031656867	0.58709	4.044819	0.361867551766475	0.59225	4.098651	0.00106907004878462	0.08183	0.553676	0.25195	0	0.588015	0.36545	0	0.670488	0.60580	0	0.530356	0.10902	0	.	.	4.75	4.75	0.59954	2.790000	0.47512	11.787000	0.96267	-0.830000	0.02882	1.000000	0.71638	1.000000	0.68203	0.868000	0.41282	0.0:0.0:1.0:0.0	13.428	0.60486	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	365.43	33	chr15	43600609	.	G	A	365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.21;DP=658;ExcessHet=0;FS=9.674;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.3;MQRankSum=-8.943;QD=3.21;ReadPosRankSum=-3.024;SOR=1.911	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,16:114:99:0|1:43600609_G_A:377,0,4067:43600609	9	0	1	0
chr15	43600624	43600624	C	A	exonic	STRC	.	nonsynonymous SNV	STRC:NM_153700:exon26:c.G4903T:p.V1635F	Deafness, autosomal recessive 16, Autosomal recessive	2	1494	26	0	0	26	0.00862641	.	.	.	230563	not_specified|STRC-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.310	0.68426316111	0.0002	.	0.0011	0.0004	0.0003	0	0.0005	0.0009	0	0.0041	0.0011061	171	154602	rs2915791	0.0003	0.0035	0.0002	0.0003	0.0011	0.0002	0.0002	0.0010	0.0009	0.0003	4.478e-05	0.0001	0	0	0.0004	0.0002	0.0003	0.0011	0.0008	0.0022	0.0009	0.0007	0.0051	0.0007	0.0006	0.0035	0.0030	0.0006	0.0022	0.0002	0	0	0	0	0.0010	0.0009	0.0051	0.11	0.29158	T	0.023	0.57104	D	0.573	0.60036	P	0.165	0.57283	B	0.721024	0.09934	N	0.836584	1	0.81001	D	.	.	.	-1.05	0.76690	T	-0.58	0.17624	N	0.519	0.54932	-0.2102	0.77409	T	0.478	0.80002	T	9	0.11853805	0.22412	T	0.684263	0.97389	D	0.310	0.63162	.	.	0.753645140278	0.75141	0.6565447405899285	0.65590	.	.	0.43855664134	0.30380	T	0.064201	0.32372	T	0.0143853	0.53622	T	-0.217113	0.53014	T	0.281153917312622	0.24220	T	0.590441	0.21717	T	0.11808676	0.27828	0.096214235	0.22852	0.12998167	0.30342	0.11341362	0.27371	-8.815	0.66499	D	0.3956736979913532	0.48823	0.160	0.35288	B	.;.	.;.	3.234298	0.44118	21.9	0.98070163054786075	0.38023	0.85159	0.44268	D	AEFBI	0.398309	0.47404	N	0.105459158857106	0.46716	2.90786	0.133687704735429	0.46282	2.876808	0.00735261414150442	0.11446	0.553676	0.25195	0	0.588015	0.36545	0	0.54472	0.12158	0	0.530356	0.10902	0	.	.	4.75	3.83	0.43287	1.209000	0.31963	2.767000	0.34644	0.547000	0.25779	0.998000	0.41325	0.990000	0.31317	0.984000	0.60418	0.0:0.8996:0.0:0.1004	9.045	0.35505	10	0.99061	.;.	.	.	.	.	.	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	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.05	337.43	33	chr15	43600624	.	C	A	337.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=663;ExcessHet=0;FS=2.288;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.61;MQRankSum=-8.524;QD=2.93;ReadPosRankSum=-0.482;SOR=1.161	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,16:115:99:0|1:43600609_G_A:349,0,4094:43600609	9	0	1	0
chr15	43635793	43635793	T	A	exonic	CATSPER2	.	nonsynonymous SNV	CATSPER2:NM_001282310:exon9:c.A1073T:p.N358I,CATSPER2:NM_172095:exon9:c.A1055T:p.N352I,CATSPER2:NM_001282309:exon10:c.A1055T:p.N352I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0175913253951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.15876	T	0.035	0.52389	D	0.514	0.37393	P	0.059	0.34794	B	0.392562	0.04486	N	1.413170	1	0.23844	N	2.095	0.58118	M	-3.95	0.96175	D	-1.61	0.50992	N	0.45	0.48780	0.108	0.84315	D	0.750	0.91468	D	10	0.15335992	0.28950	T	0.017591	0.39349	T	0.251	0.56024	0.375	0.38830	0.283761946502	0.27984	0.4196428327976355	0.41880	0.317401076576	0.33983	0.380552947521	0.22334	T	0.272588	0.64498	T	0.0233645	0.54835	T	-0.204215	0.54247	T	0.148541099515817	0.16986	T	0.630137	0.24490	T	0.13822408	0.31975	0.11426631	0.27581	0.13822408	0.31975	0.11426631	0.27580	-6.948	0.53654	T	.	.	0.173	0.46049	B	.;.;.	.;.;.	0.539195	0.09077	5.861	0.94733763509061775	0.25418	0.03294	0.08346	N	AEFI	0.088410	0.17924	N	-0.970805442694501	0.09231	0.4360469	-1.06310522469492	0.08436	0.4147786	2.56815486645625E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	4.62	-2.51	0.05996	-0.437000	0.06984	-1.700000	0.04889	-0.274000	0.06627	0.008000	0.17931	0.000000	0.08366	0.271000	0.23793	0.0:0.4935:0.0:0.5065	9.467	0.37984	7	0.99271	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	673.43	36	chr15	43635793	.	T	A	673.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.208;DP=343;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.93;MQRankSum=1.35;QD=15.66;ReadPosRankSum=1.52;SOR=0.678	GT:AD:DP:GQ:PL	0/1:16,27:43:99:685,0,351	9	0	1	0
chr15	45061087	45061087	C	T	exonic	SORD	.	nonsynonymous SNV	SORD:NM_003104:exon4:c.C286T:p.P96S	.	431	1061	30	0	0	30	0.0139405	.	.	.	3539455	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.517	0.0733825270408	.	.	7.417e-05	0.0006	0	0	0	4.497e-05	0	0	3.84e-05	1	26028	rs367815523	0.0005	0.0049	0.0005	0.0005	0.0020	0.0004	0.0004	0.0011	0.0009	0.0010	0.0009	0.0002	0.0007	0.0002	0.0020	0.0004	0.0005	0.0006	0.0008	0.0047	0.0008	0.0007	0.0016	0.0006	0.0006	0.0012	0.0011	0.0016	0.0011	0.0003	0.0003	0.0010	0	0	0.0006	0.0005	0.0004	0.0	0.91255	D	0.009	0.67890	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.68	0.78455	M	3.44	0.05375	T	-7.84	0.96032	D	0.904	0.90476	-1.1546	0.00894	T	0.046	0.19800	T	10	0.69918245	0.72335	D	0.073383	0.71774	D	0.517	0.79400	.	.	0.485420873983	0.48173	0.9197059316775463	0.91946	0.907490128697	0.70902	0.666648447514	0.62360	T	0.265353	0.63721	T	0.113796	0.65744	D	-0.074317	0.65318	T	0.47631374001503	0.31762	T	0.982402	0.99990	D	0.94719636	0.95980	0.8657455	0.92572	0.94719636	0.95980	0.8657455	0.92573	-11.109	0.80252	D	.	.	0.940	0.85879	P	.;.	.;.	4.803971	0.78081	26.8	0.99918417027830564	0.98586	0.99309	0.94295	D	AEFGBI	0.944456	0.95155	D	0.571844831821852	0.71421	5.64843	0.512897990840352	0.68855	5.278264	0.99999999999784	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.23	4.23	0.49319	7.830000	0.84907	7.661000	0.64234	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.303000	0.24570	0.0:1.0:0.0:0.0	15.778	0.78011	409	0.82198	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|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	0.006042	0.015152	0.000000	0.017544	0.000000	0.008621	0.000000	0.000000	0.1	1356.14	41	chr15	45061087	.	C	T	1356.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.842;DP=710;ExcessHet=0.2348;FS=12.84;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.99;MQRankSum=-7.223;QD=3.89;ReadPosRankSum=-1.719;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,23:167:99:0|1:45061086_G_A:526,0,5935:45061086	8	0	2	0
chr15	48497353	48497353	T	C	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon19:c.A2206G:p.N736D	Acromicric dysplasia, Autosomal dominant;Ectopia lentis, familial, Autosomal dominant;Geleophysic dysplasia 2, Autosomal dominant;MASS syndrome;Marfan lipodystrophy syndrome, Autosomal dominant;Marfan syndrome, Autosomal dominant;Stiff skin syndrome, Autosomal dominant;Weill-Marchesani syndrome 2, dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	242076	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Progeroid_and_marfanoid_aspect-lipodystrophy_syndrome|Ectopia_lentis_1,_isolated,_autosomal_dominant|MASS_syndrome|Weill-Marchesani_syndrome_2,_dominant|Geleophysic_dysplasia_2|Marfan_syndrome|Stiff_skin_syndrome|Acromicric_dysplasia	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0014831,MedGen:C4310796,OMIM:616914,Orphanet:300382|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Orphanet:1885|MONDO:MONDO:0011431,MedGen:C1858556,OMIM:604308,Orphanet:99715|MONDO:MONDO:0012013,MedGen:C1869115,OMIM:608328,Orphanet:2084|MONDO:MONDO:0013612,MedGen:C3280054,OMIM:614185,Orphanet:2623|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900,Orphanet:2833|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,Orphanet:969	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.787	0.32581897124	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878853678	1.368e-06	1.368e-06	0	2.75e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.011	0.64786	D	.	.	.	.	.	.	0.000043	0.53742	D	0.190728	0.999768	0.48888	D	.	.	.	-3.0	0.92158	D	-4.69	0.79743	D	0.746	0.74553	0.612	0.92062	D	0.785	0.92719	D	10	0.84849024	0.84020	D	0.325819	0.91609	D	0.787	0.92948	0.622	0.75690	0.897695113205	0.89668	.	.	2.33439091465	0.96697	0.644448161125	0.59196	T	.	.	.	0.0517595	0.58570	T	-0.0665734	0.65870	T	0.987627387046814	0.78084	D	0.814619	0.46840	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	0.53024	B	.	.	4.905423	0.80657	27.4	0.99807831408837178	0.89174	0.98079	0.79420	D	AEFBI	0.943793	0.95008	D	0.580494104646523	0.71958	5.730784	0.585818692397615	0.73923	6.050407	0.999998405471063	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.92	4.79	0.60909	7.674000	0.83146	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.1424:0.8576	12.250	0.53906	470	0.78111	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	500.43	38	chr15	48497353	.	T	C	500.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=391;ExcessHet=0;FS=1.024;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.15;ReadPosRankSum=-0.644;SOR=0.925	GT:AD:DP:GQ:PL	0/1:47,23:70:99:512,0,1154	9	0	1	0
chr15	50499077	50499088	GTAGCCACATAA	-	exonic	USP8	.	nonframeshift deletion	USP8:NM_001283049:exon17:c.3028_3039del:p.V1010_T1012delinsGDIGYKLVIF,USP8:NM_001128610:exon20:c.3346_3357del:p.V1116_T1118delinsGDIGYKLVIF,USP8:NM_005154:exon20:c.3346_3357del:p.V1116_T1118delinsGDIGYKLVIF	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2185.39	33	chr15	50499076	.	TGTAGCCACATAA	T	2185.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.422;DP=442;ExcessHet=0;FS=4.61;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.52;MQRankSum=-0.026;QD=19;ReadPosRankSum=-2.91;SOR=1.152	GT:AD:DP:GQ:PL	0/1:58,57:115:99:2197,0,2242	9	0	1	0
chr15	59207979	59207979	A	G	exonic	LDHAL6B	.	nonsynonymous SNV	LDHAL6B:NM_033195:exon1:c.A1039G:p.N347D	.	430	1024	68	0	0	68	0.0321361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00472821439629	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs79607288	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.316e-05	0.0008	1.288e-05	1.347e-05	2.411e-05	2.19e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.474e-05	0	0	0.08	0.33585	T	0.101	0.38596	T	0.011	0.15914	B	0.036	0.22909	B	0.003291	0.35154	U	0.227134	0.615938	0.32663	D	1.295	0.32453	L	-0.25	0.67011	T	-2.22	0.49846	N	0.126	0.11912	-0.8740	0.50226	T	0.196	0.55056	T	10	0.14880553	0.28173	T	0.004728	0.11784	T	0.062	0.17934	.	.	0.536616348568	0.53311	0.03866333602263275	0.03812	0.0189453964245	0.01848	0.306285023689	0.11345	T	0.108095	0.42085	T	-0.127537	0.31894	T	-0.420975	0.30964	T	0.306236803531647	0.25260	T	0.586841	0.21439	T	0.2530445	0.48323	0.33686218	0.59483	0.2530445	0.48323	0.33686218	0.59482	-5.914	0.45554	T	.	.	0.069	0.03197	B	.	.	0.917677	0.12926	9.433	0.98872967153225388	0.47684	0.07590	0.13600	N	AEFDBI	0.038607	0.05489	N	-0.795969993998664	0.13414	0.6606697	-0.870301225830774	0.12801	0.6605371	0.967472809720144	0.28980	0.372202	0.05800	0	0.546412	0.12157	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	2.42	2.42	0.28720	0.587000	0.23611	6.392000	0.55560	0.691000	0.84096	0.000000	0.06391	1.000000	0.68203	0.239000	0.22975	1.0:0.0:0.0:0.0	8.344	0.31422	340	0.86005	Lactate/malate dehydrogenase, 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	.	.	.	.	.	.	.	.	0.05	41.43	44	chr15	59207979	.	A	G	41.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.107;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.26;MQRankSum=-4.688;QD=0.58;ReadPosRankSum=1.58;SOR=0.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,6:72:53:0|1:59207979_A_G:53,0,2752:59207979	9	0	1	0
chr15	59207981	59207981	C	G	exonic	LDHAL6B	.	nonsynonymous SNV	LDHAL6B:NM_033195:exon1:c.C1041G:p.N347K	.	430	1025	67	0	0	67	0.0316486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0107333217821	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs77368390	4.792e-06	0.0002	2.725e-06	6.881e-06	6.297e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.297e-06	0	0	1.318e-05	0.0008	1.289e-05	1.349e-05	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.475e-05	0	0	0.034	0.44029	D	0.115	0.36630	T	0.305	0.32678	B	0.117	0.32014	B	0.003291	0.35154	U	0.227134	0.999999	0.58761	D	1.805	0.47535	L	-0.29	0.67712	T	-3.34	0.66325	D	0.17	0.18103	-0.8079	0.54677	T	0.219	0.58137	T	10	0.21257398	0.37721	T	0.010733	0.27599	T	0.103	0.29403	0.397	0.42426	0.471700387322	0.46796	0.05045534889425341	0.04988	0.0253377058962	0.02582	0.306099057198	0.11317	T	0.302661	0.67505	T	-0.0797341	0.39756	T	-0.352309	0.38941	T	0.683018445968628	0.39926	D	0.776522	0.40874	T	0.32717288	0.55238	0.5131278	0.71866	0.32717288	0.55238	0.5131278	0.71867	-5.282	0.39764	T	.	.	0.118	0.24226	B	.	.	-0.001911	0.04269	1.063	0.96235942516509487	0.29135	0.02801	0.07522	N	AEFDBI	0.047688	0.08056	N	-0.942493850555712	0.09862	0.468649	-1.10702193125262	0.07565	0.3684791	0.76259482655588	0.23535	0.372202	0.05800	0	0.546412	0.12157	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	2.42	-0.268	0.12295	-0.035000	0.12156	-1.340000	0.05675	-0.828000	0.02899	0.019000	0.19563	0.000000	0.08366	0.216000	0.22352	0.0:0.2736:0.0:0.7264	5.910	0.18265	340	0.86005	Lactate/malate dehydrogenase, 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	0	0	.	.	.	.	.	.	.	.	0.05	41.43	44	chr15	59207981	.	C	G	41.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.225;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.26;MQRankSum=-4.688;QD=0.58;ReadPosRankSum=1.85;SOR=0.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,6:72:53:0|1:59207979_A_G:53,0,2752:59207979	9	0	1	0
chr15	59208031	59208031	A	C	exonic	LDHAL6B	.	nonsynonymous SNV	LDHAL6B:NM_033195:exon1:c.A1091C:p.H364P	.	424	1044	54	0	0	54	0.0252101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.00486081327491	.	.	.	.	.	.	.	.	.	.	.	.	.	rs145956187	6.95e-07	4.31e-05	0	1.398e-06	9.039e-07	0	0	.	.	0	0	0	0	0	0	9.039e-07	0	0	6.575e-06	0.0004	0	1.345e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.04	0.42199	D	0.209	0.26798	T	0.006	0.13644	B	0.016	0.17743	B	0.352047	0.13800	U	0.634852	0.985489	0.40291	D	0.625	0.15840	N	-0.23	0.66652	T	-1.17	0.29933	N	0.144	0.14480	-0.8837	0.49464	T	0.196	0.55028	T	10	0.1232011	0.23384	T	0.004861	0.12192	T	0.221	0.51721	.	.	0.432493127443	0.42867	0.4412992855339442	0.44046	0.0234488037338	0.02381	0.22820186615	0.01838	T	0.087428	0.37940	T	-0.122539	0.32710	T	-0.413795	0.31788	T	0.31803297996521	0.25742	T	0.433957	0.11861	T	0.36126763	0.57932	0.27047408	0.52939	0.36126763	0.57933	0.27047408	0.52938	-8.579	0.64950	D	.	.	0.161	0.35663	B	.	.	0.622097	0.09905	6.665	0.23076867992127034	0.00959	0.78590	0.38796	D	AEFDBI	0.209905	0.33585	N	-1.22873326991558	0.04588	0.2073661	-1.31514284077204	0.04234	0.1992842	0.811020413863431	0.24355	0.475973	0.10046	0	0.601575	0.49859	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	1.47	-1.62	0.07926	3.643000	0.54109	-4.724000	0.02015	-0.462000	0.05112	1.000000	0.71638	0.000000	0.08366	0.235000	0.22869	0.5639:0.0:0.4361:0.0	5.192	0.14542	341	0.85936	Lactate/malate dehydrogenase, 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	0	0	.	.	.	.	.	.	.	.	0.05	72.43	44	chr15	59208031	.	A	C	72.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.222;DP=457;ExcessHet=0;FS=1.778;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.03;MQRankSum=-4.038;QD=1.32;ReadPosRankSum=-1.194;SOR=0.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,6:55:84:0|1:59208023_A_G:84,0,2039:59208023	9	0	1	0
chr15	59208039	59208039	A	G	exonic	LDHAL6B	.	nonsynonymous SNV	LDHAL6B:NM_033195:exon1:c.A1099G:p.K367E	.	425	1050	47	0	0	47	0.021891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0044559325617	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386454738	0	2.805e-05	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	0.041	0.41915	D	0.09	0.40267	T	0.362	0.33945	B	0.16	0.34752	B	0.003617	0.34713	U	0.179677	1	0.81001	D	2.055	0.56616	M	-0.33	0.68329	T	-2.56	0.55339	D	0.316	0.35620	-0.7192	0.59502	T	0.221	0.58434	T	10	0.3018667	0.47726	T	0.004456	0.10906	T	0.184	0.45763	.	.	0.707097973601	0.70454	0.0805445634393412	0.07989	0.0946744460692	0.10693	0.317170917988	0.12992	T	0.288609	0.66141	T	-0.0918196	0.37777	T	-0.369669	0.36927	T	0.475559115409851	0.31735	T	0.737626	0.35462	T	0.30485794	0.53337	0.2265665	0.47638	0.30485794	0.53337	0.2265665	0.47637	-6.212	0.48020	T	.	.	0.072	0.04316	B	.	.	1.653422	0.21093	15.05	0.96544986378234454	0.30200	0.78226	0.38563	D	AEDBI	0.126814	0.24391	N	-0.476633201795909	0.22848	1.222878	-0.60383256547261	0.19395	1.04034	0.911661248317906	0.26373	0.475973	0.10046	0	0.601575	0.49859	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	1.47	1.47	0.21832	2.835000	0.47876	6.311000	0.55429	0.413000	0.20698	1.000000	0.71638	1.000000	0.68203	0.331000	0.25224	1.0:0.0:0.0:0.0	6.659	0.22195	341	0.85936	Lactate/malate dehydrogenase, 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	0	0	.	.	.	.	.	.	.	.	0.05	75.43	44	chr15	59208039	.	A	G	75.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.061;DP=441;ExcessHet=0;FS=1.988;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.42;MQRankSum=-2.794;QD=1.64;ReadPosRankSum=-2.44;SOR=0.288	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,5:46:87:0|1:59208023_A_G:87,0,1707:59208023	9	0	1	0
chr15	65624503	65624503	G	C	exonic	SLC24A1	.	nonsynonymous SNV	SLC24A1:NM_001301031:exon1:c.G423C:p.K141N,SLC24A1:NM_001301032:exon1:c.G423C:p.K141N,SLC24A1:NM_004727:exon2:c.G423C:p.K141N,SLC24A1:NM_001301033:exon4:c.G423C:p.K141N	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0437088708563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0098	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0	7.768e-05	0	0	0	0.0002	8.519e-05	4.757e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	0.036487	0.24515	N	0.289027	1	0.08975	N	1.83	0.48079	L	-0.39	0.72125	T	-1.89	0.44094	N	0.193	0.26957	-0.6646	0.62072	T	0.376	0.73370	T	10	0.14750645	0.27949	T	0.043709	0.61120	D	0.071	0.20720	0.248	0.18447	0.814655732074	0.81291	0.06411332316461787	0.06350	0.277029944497	0.30173	0.317594438791	0.13056	T	0.022452	0.58404	T	-0.167159	0.25664	T	-0.477889	0.24671	T	0.523743510246277	0.33503	D	0.830817	0.50934	T	0.14003113	0.32323	0.15122224	0.35631	0.14003113	0.32323	0.15122224	0.35630	-5.061	0.37611	T	.	.	0.386	0.58803	A	.;.;.;.;.;.	.;.;.;.;.;.	1.694742	0.21594	15.27	0.99300094975893183	0.58577	0.11248	0.16507	N	AEFBI	0.045447	0.07435	N	-0.329018778326971	0.28049	1.543991	-0.502545089104272	0.22083	1.197762	0.0106939354388256	0.12067	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.78	2.88	0.32617	1.145000	0.31189	2.573000	0.33375	-0.106000	0.15538	0.012000	0.18695	0.972000	0.29809	0.129000	0.19529	0.2157:0.0:0.7843:0.0	6.818	0.23027	605	0.67457	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	209.43	34	chr15	65624503	.	G	C	209.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.486;DP=527;ExcessHet=0;FS=117.943;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=3.68;SOR=5.417	GT:AD:DP:GQ:PL	0/1:104,21:134:99:221,0,3435	9	0	1	0
chr15	66781375	66781375	C	T	exonic	SMAD6	.	nonsynonymous SNV	SMAD6:NM_005585:exon4:c.C1331T:p.S444L	Aortic valve disease 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3849013	Aortic_valve_disease_2|Inborn_genetic_diseases	MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.858	0.491530417101	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199885442	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	7.237e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.012	0.63918	D	0.995	0.67487	D	0.805	0.58399	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.52	0.73523	M	-4.14	0.96772	D	-3.09	0.63438	D	0.733	0.73375	1.040	0.97900	D	0.921	0.97385	D	10	0.89244735	0.88590	D	0.49153	0.95007	D	0.858	0.95655	0.625	0.76028	0.927563851712	0.92682	0.5950081569968436	0.59430	0.828958284525	0.67545	0.6839402318	0.64834	T	0.954943	0.99376	D	0.314943	0.84109	D	0.402428	0.92192	D	0.930149376392365	0.59466	D	0.674733	0.28305	T	0.6358178	0.74608	0.5570642	0.74379	0.6358178	0.74609	0.5570642	0.74379	-6.64	0.51357	T	0.35676913442332564	0.45356	0.188	0.40570	B	.	.	4.653505	0.74205	26.1	0.99813966922342334	0.89797	0.98283	0.81242	D	AEFDGBCI	0.955850	0.97398	D	0.647180012819052	0.76187	6.440285	0.676644238602902	0.80607	7.336956	1.0	0.98316	0.562547	0.31514	0	0.573888	0.26702	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	7.807000	0.84584	2.610000	0.33572	0.469000	0.21855	1.000000	0.71638	0.991000	0.31484	0.972000	0.54974	0.0:1.0:0.0:0.0	19.650	0.95793	424	0.81215	SMAD domain, Dwarfin-type|SMAD domain, Dwarfin-type|SMAD domain, Dwarfin-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	.	.	.	.	.	.	.	.	0.05	1025.43	34	chr15	66781375	.	C	T	1025.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=395;ExcessHet=0;FS=1.813;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.629;SOR=0.944	GT:AD:DP:GQ:PL	0/1:39,42:81:99:1037,0,847	9	0	1	0
chr15	71898076	71898076	G	C	exonic	MYO9A	.	nonsynonymous SNV	MYO9A:NM_006901:exon25:c.C4427G:p.P1476R	.	433	1033	53	3	0	59	0.0277647	.	.	.	703311	MYO9A-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.138	.	0.0010	0.00898562	0.0044	0.0007	0.0011	0.0251	0	0.0011	0.0099	0.0130	0.0041138	636	154602	rs16956375	0.0024	0.0024	0.0020	0.0029	0.0274	0.0024	0.0024	0.0260	0.0255	0.0005	0.0008	0.0050	0.0274	1.873e-05	0.0210	0.0006	0.0053	0.0141	0.0021	0.0021	0.0019	0.0025	0.0257	0.0020	0.0019	0.0222	0.0208	0.0006	0	0.0008	0.0055	0.0257	0	0.0306	0.0007	0.0057	0.0141	0.005	0.63226	D	0.408	0.39340	T	0.047	0.21998	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	-1.8	0.88767	D	-1.18	0.35597	N	0.1	0.11197	-0.7727	0.56709	T	0.202	0.55905	T	9	0.0030557215	0.00050	T	.	.	.	0.138	0.37187	.	.	0.158540857583	0.15491	0.26733313974931155	0.26646	0.106403839219	0.12028	0.22201526165	0.01430	T	0.016766	0.16317	T	-0.293858	0.09253	T	-0.175286	0.56958	T	0.0199499117669396	0.00696	T	0.768923	0.39853	T	0.060669936	0.12478	0.07894072	0.17728	0.036071613	0.04368	0.07383594	0.16088	-4.414	0.29746	T	.	.	0.092	0.23395	B	.;.;.;.	.;.;.;.	2.036404	0.25887	16.92	0.96495594025505538	0.30023	0.65211	0.32661	D	AEFGBI	0.135683	0.25610	N	-0.518906691549729	0.21468	1.13958	-0.464498217533983	0.23139	1.260332	0.514245987980211	0.21043	0.706548	0.73137	0	0.653731	0.59785	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.92	3.0	0.33773	4.144000	0.57825	5.633000	0.49123	0.676000	0.76740	0.861000	0.30630	1.000000	0.68203	0.964000	0.52637	0.2055:0.1305:0.6639:0.0	6.833	0.23103	921	0.19240	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.005051	0.004076	0.040936	0.000000	0.017241	0.009146	0.007576	0.05	1619.43	34	chr15	71898076	.	G	C	1619.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.165;DP=443;ExcessHet=0;FS=4.143;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-1.648;SOR=1.091	GT:AD:DP:GQ:PL	0/1:65,69:134:99:1631,0,1525	9	0	1	0
chr15	72221189	72221189	C	G	exonic	PKM	.	nonsynonymous SNV	PKM:NM_001206796:exon2:c.G188C:p.S63T,PKM:NM_001206798:exon2:c.G13C:p.A5P	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.581159818659	.	0.000199681	0.0018	0.0053	0	0	.	0.0033	0	0.0012	0.0001488	23	154602	rs546024325	0.0002	0.0002	0.0001	0.0002	0.0009	0.0001	0.0001	0.0007	0.0006	3.168e-05	2.801e-05	0.0015	0	0	0.0005	9.463e-05	0.0002	0.0009	8.535e-05	8.53e-05	7.709e-05	9.399e-05	0.0004	4.953e-05	3.96e-05	7.287e-05	3.339e-05	0	0	0	0.0012	0	0	0	0.0001	0	0.0004	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999961	0.58761	D	.	.	.	-6.36	0.99669	D	-0.32	0.12283	N	0.293	0.33140	0.726	0.93491	D	0.940	0.98037	D	8	0.008797348	0.00199	T	0.58116	0.96247	D	0.369	0.68844	0.05	0.00095	0.761641644283	0.75947	.	.	.	.	.	.	.	.	.	.	0.0570674	0.59244	T	0.232492	0.84790	D	0.0564586306667866	0.06600	T	0.450355	0.12714	T	.	.	.	.	.	.	.	.	-2.878	0.08925	T	.	.	0.076	0.05890	B	.	.	2.117840	0.26958	17.30	0.99337339201919062	0.60012	0.65816	0.32865	D	AEFDBHCI	0.218192	0.34323	N	-0.632174880114968	0.17983	0.9300324	-0.581356363155171	0.19980	1.074386	0.999999219235307	0.74766	0.489673	0.17934	0	0.71359	0.82159	0	0.575934	0.27490	0	0.508809	0.08732	0	.	.	4.57	-1.77	0.07551	0.169000	0.16457	0.061000	0.14131	-0.202000	0.08738	0.998000	0.41325	0.924000	0.28388	0.673000	0.33338	0.1551:0.4024:0.0:0.4425	4.272	0.10240	206	0.91974	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001543	0.000000	0.000000	0.006098	0.000000	0.000000	0.000000	0.000000	0.1	1612.14	33	chr15	72221189	.	C	G	1612.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.5;DP=482;ExcessHet=0.2348;FS=5.119;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=1.55;SOR=0.61	GT:AD:DP:GQ:PL	0/1:53,42:95:99:867,0,1229	8	0	2	0
chr15	74890083	74890083	C	T	exonic	MPI	.	nonsynonymous SNV	MPI:NM_001289155:exon1:c.C10T:p.P4S,MPI:NM_001289157:exon1:c.C10T:p.P4S,MPI:NM_002435:exon1:c.C10T:p.P4S	Congenital disorder of glycosylation, type Ib, Autosomal recessive	2	1473	44	3	0	50	0.0166889	.	.	.	267163	not_specified|MPI-congenital_disorder_of_glycosylation|not_provided|MPI-related_disorder	MedGen:CN169374|MONDO:MONDO:0011257,MedGen:C1865145,OMIM:602579,Orphanet:79319|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.395	0.101364905895	0.0013	0.000798722	0.0017	0.0003	0.0034	0	0	0.0020	0.0071	0.0013	0.0015459	239	154602	rs143982014	0.0014	0.0014	0.0013	0.0015	0.0235	0.0014	0.0013	0.0202	0.0190	0.0007	0.0033	0.0112	2.519e-05	0	0.0235	0.0011	0.0030	0.0012	0.0014	0.0014	0.0015	0.0013	0.0031	0.0012	0.0012	0.0024	0.0022	0.0004	0	0.0031	0.0130	0	0	0.0238	0.0012	0.0066	0.0006	0.337	0.31987	T	0.692	0.34241	T	0.002	0.11197	B	0.002	0.11217	B	0.728648	0.06356	N	1.128990	1	0.20412	N	0.995	0.25082	L	-4.08	0.96594	D	0.21	0.08033	N	0.165	0.29889	0.098	0.84141	D	0.791	0.92899	D	10	0.00872612	0.00198	T	0.101365	0.77421	D	0.395	0.71004	.	.	0.746948417672	0.74466	0.24313440256969707	0.24227	0.189476331791	0.21270	0.363826721907	0.19941	T	0.325986	0.69665	T	-0.180452	0.23669	T	-0.0340886	0.68097	D	0.00599573156288727	0.00066	T	0.859214	0.63097	D	0.029457944	0.02445	0.050822712	0.08053	0.026288811	0.01666	0.054601777	0.09421	-3.593	0.18379	T	.	.	0.115	0.23077	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.625673	0.20758	14.90	0.71600662564173023	0.09684	0.14769	0.18576	N	ALL	0.118988	0.23244	N	-0.784616274754612	0.13710	0.6773794	-0.837605732487111	0.13586	0.7055841	0.99999999999726	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.08	1.99	0.25423	1.175000	0.31553	1.167000	0.24596	-0.176000	0.10722	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.2111:0.5844:0.2045:0.0	6.414	0.20910	285	0.88719	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020202	0.025510	0.023098	0.035294	0.000000	0.025862	0.009202	0.000000	0.05	2214.43	36	chr15	74890083	.	C	T	2214.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=504;ExcessHet=0;FS=2.563;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=1.39;SOR=0.903	GT:AD:DP:GQ:PL	0/1:96,90:186:99:2226,0,2220	9	0	1	0
chr15	75690325	75690325	C	A	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G740T:p.R247L	.	242	1239	41	0	0	41	0.0162763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	.	.	.	0.0072	0.0221	0.0051	0.0002	0.0016	0.0082	0.0106	0.0026	4.53e-05	7	154602	rs150241616	0.0023	0.0075	0.0022	0.0023	0.0104	0.0022	0.0022	0.0083	0.0075	0.0076	0.0012	0.0014	0	0.0013	0.0104	0.0024	0.0019	0.0007	0.0003	0.0038	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	0.0006	0	0.0003	0	0	9.443e-05	0.0035	0.0003	0.0010	0	0.027	0.46513	D	0.073	0.43159	T	0.579	0.38789	P	0.155	0.34417	B	0.963717	0.07733	N	1.017680	0.999987	0.18198	N	1.59	0.40313	L	-1.15	0.77964	T	-2.52	0.54702	D	0.26	0.29429	-0.8451	0.52304	T	0.136	0.45164	T	10	0.0137501955	0.00291	T	.	.	.	0.336	0.65816	.	.	0.456089687795	0.45231	0.5956843285600265	0.59498	0.526958073932	0.50312	0.209487393498	0.00790	T	0.353228	0.72055	T	-0.0896309	0.38139	T	-0.366525	0.37296	T	0.0229721219108999	0.01020	T	0.69823	0.30825	T	0.0856866	0.19887	0.17583492	0.40076	0.0856866	0.19887	0.17583492	0.40075	-4.458	0.30335	T	.	.	0.087	0.11414	B	.	.	0.218507	0.06011	2.453	0.95054651626861075	0.26075	0.16596	0.19462	N	AEFBI	0.241601	0.36319	N	-1.19395214962389	0.05091	0.2312774	-1.31445633219564	0.04242	0.1997009	0.999317597206819	0.39113	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.21	-7.51	0.01203	0.200000	0.17055	-6.465000	0.01391	-1.914000	0.00512	0.003000	0.16062	0.000000	0.08366	0.346000	0.25568	0.0:0.1131:0.1092:0.7777	12.053	0.52813	162	0.93704	Laminin G domain|Laminin G domain|Laminin G 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	0.024083	0.013889	0.035616	0.021739	0.000000	0.017241	0.014493	0.008065	0.05	344.43	38	chr15	75690325	.	C	A	344.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.28;DP=428;ExcessHet=0;FS=4.234;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.22;MQRankSum=-5.445;QD=3.87;ReadPosRankSum=0.491;SOR=1.381	GT:AD:DP:GQ:PL	0/1:71,18:89:99:356,0,1841	9	0	1	0
chr15	78101010	78101010	C	T	exonic	SH2D7	.	nonsynonymous SNV	SH2D7:NM_001101404:exon5:c.C757T:p.R253W	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.027204006025	0.0026	0.000599042	0.0024	0.0009	0.0006	0	0.0012	0.0033	0.0023	0.0025	0.0023092	357	154602	rs181099810	0.0034	0.0034	0.0034	0.0034	0.0039	0.0033	0.0033	0.0038	0.0038	0.0009	0.0009	0.0013	5.038e-05	0.0005	0.0023	0.0039	0.0028	0.0030	0.0023	0.0023	0.0027	0.0019	0.0041	0.0021	0.0020	0.0037	0.0035	0.0008	0	0.0013	0.0009	0.0002	0.0008	0	0.0041	0.0019	0.0012	0.004	0.78490	D	0.009	0.66756	D	0.993	0.65571	D	0.446	0.45959	B	0.997634	0.07987	N	0.998204	1	0.08975	N	1.59	0.40313	L	1.37	0.34253	T	-5.18	0.83557	D	0.327	0.40963	-1.0347	0.18951	T	0.062	0.25672	T	10	0.0066726506	0.00151	T	0.027204	0.50045	D	0.061	0.17616	.	.	0.269111216191	0.26524	0.4564531384228855	0.45563	0.210751915057	0.23571	0.270879477262	0.06256	T	0.019145	0.15304	T	-0.513744	0.00478	T	-0.510878	0.21226	T	0.0493256645745036	0.05381	T	0.770723	0.40088	T	0.097785234	0.23055	0.09278537	0.21884	0.097785234	0.23055	0.09278537	0.21883	-7.051	0.54405	T	.	.	0.120	0.24733	B	.;.	.;.	1.721730	0.21921	15.40	0.99406286898487295	0.63075	0.06576	0.12591	N	AEFDGBI	0.151291	0.27575	N	-0.677314332438991	0.16670	0.8513137	-0.809881757423486	0.14256	0.7439816	0.997309824840635	0.35478	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.78	1.02	0.19102	0.160000	0.16278	-0.951000	0.06813	-1.001000	0.01808	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.4347:0.4044:0.1608:0.0	6.611	0.21948	790	0.46189	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.003788	0.1	2271.14	36	chr15	78101010	.	C	T	2271.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.41;DP=482;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=1.84;SOR=0.734	GT:AD:DP:GQ:PL	0/1:48,50:98:99:1232,0,1057	8	0	2	0
chr15	78168982	78168982	C	T	exonic	IDH3A	.	nonsynonymous SNV	IDH3A:NM_005530:exon11:c.C1078T:p.R360C	.	437	1082	3	0	0	3	0.0013844	.	.	.	1145476	IDH3A-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.174	0.0413373250293	0.0042	0.000998403	0.0022	0.0011	0.0014	0	0.0008	0.0034	0.0022	0.0002	0.0022251	344	154602	rs116374996	0.0044	0.0044	0.0045	0.0042	0.0053	0.0043	0.0043	0.0052	0.0051	0.0005	0.0018	0.0018	2.538e-05	0.0009	0.0049	0.0053	0.0046	0.0002	0.0027	0.0027	0.0029	0.0024	0.0046	0.0025	0.0024	0.0042	0.0041	0.0009	0.0011	0.0018	0.0023	0.0002	0.0007	0	0.0046	0.0038	0.0004	0.007	0.59928	D	0.017	0.67890	D	0.452	0.36118	B	0.205	0.37080	B	0.002613	0.36243	N	0.339765	1	0.81001	D	2.73	0.79844	M	0.48	0.55945	T	-2.65	0.60827	D	0.399	0.45520	-0.6680	0.61919	T	0.160	0.49447	T	10	0.011196941	0.00246	T	0.041337	0.59872	D	0.174	0.44019	.	.	0.750285348381	0.74802	0.6740994769403064	0.67347	1.44831164804	0.86095	0.288558244705	0.08713	T	0.59691	0.87024	D	-0.350836	0.04675	T	-0.275637	0.47248	T	0.0395214842948589	0.03604	T	0.927007	0.73102	D	0.24317315	0.47253	0.12204911	0.29443	0.24317315	0.47252	0.12204911	0.29442	-7.86	0.60112	D	0.3734515709622747	0.46871	0.147	0.41357	B	.;.;.	.;.;.	4.317259	0.66045	24.9	0.99908517576624323	0.97875	0.97845	0.77560	D	AEFDBI	0.771936	0.70641	D	0.344219240845876	0.58435	4.015714	0.413765191885411	0.62420	4.457244	0.999999889367069	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	5.26	0.73479	3.502000	0.53092	1.798000	0.28858	0.599000	0.40250	1.000000	0.71638	0.948000	0.28948	0.997000	0.79791	0.1273:0.8057:0.0:0.067	11.206	0.47995	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	0	0	1	0	0.003021	0.005051	0.001359	0.014620	0.000000	0.000000	0.000000	0.000000	0.1	1875.14	37	chr15	78168982	.	C	T	1875.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.131;DP=477;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=0.37;SOR=0.705	GT:AD:DP:GQ:PL	0/1:56,46:102:99:963,0,1221	8	0	2	0
chr15	79004044	79004044	C	T	exonic	RASGRF1	.	nonsynonymous SNV	RASGRF1:NM_001145648:exon15:c.G2207A:p.S736N,RASGRF1:NM_002891:exon16:c.G2255A:p.S752N	.	421	1094	7	0	0	7	0.00318907	.	.	.	703362	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.086	.	0.0016	0.000599042	0.0043	0.0010	0.0024	0	0.0287	0.0040	0.0155	0.0008	0.0038551	596	154602	rs145347876	0.0037	0.0037	0.0037	0.0037	0.0036	0.0036	0.0036	0.0029	0.0028	0.0004	0.0025	0.0055	0	0.0284	0.0036	0.0030	0.0043	0.0009	0.0047	0.0047	0.0032	0.0062	0.0038	0.0044	0.0043	0.0030	0.0027	0.0007	0	0.0038	0.0037	0	0.0388	0.0034	0.0028	0.0038	0	0.0	0.91255	D	0.537	0.09863	T	0.001	0.07471	B	0.002	0.06944	B	0.000413	0.44736	D	0.226121	0.809136	0.81001	D	0.205	0.09354	N	0.73	0.50721	T	-1.14	0.29323	N	0.126	0.11912	-1.0660	0.10316	T	0.091	0.34737	T	10	0.004970163	0.00107	T	.	.	.	0.086	0.25016	.	.	0.198222871337	0.19423	0.5054266413826801	0.50464	0.540615076507	0.51250	0.598421573639	0.52682	T	0.163238	0.50821	T	-0.595707	0.00155	T	-0.629306	0.10467	T	0.0529129913753174	0.06004	T	0.70483	0.31518	T	0.09919186	0.23407	0.11590703	0.27980	0.09919186	0.23407	0.11590703	0.27979	-6.209	0.48012	T	.	.	0.144	0.31708	B	.;.	.;.	1.977746	0.25127	16.65	0.99075742088114094	0.51834	0.40419	0.26432	N	AEFDBCIJ	0.257119	0.37591	N	-0.447218501883295	0.23834	1.28276	-0.335745895459854	0.26953	1.492334	0.999998348468914	0.74766	0.493124	0.18060	0	0.587265	0.34161	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.35	3.41	0.38145	2.865000	0.48111	3.230000	0.36903	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.541000	0.29961	0.1804:0.8196:0.0:0.0	11.464	0.49473	789	0.46346	.;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, 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	0.002518	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	1834.43	39	chr15	79004044	.	C	T	1834.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.922;DP=440;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.503;SOR=0.751	GT:AD:DP:GQ:PL	0/1:43,73:116:99:1846,0,972	9	0	1	0
chr15	80979281	80979281	C	T	exonic	MESD	.	nonsynonymous SNV	MESD:NM_015154:exon3:c.G643A:p.D215N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00374647076671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23007	T	0.033	0.53072	D	0.003	0.11197	B	0.005	0.11217	B	0.735015	0.06393	N	1.113020	1	0.08975	N	0.69	0.16971	N	.	.	.	-0.65	0.18877	N	0.07	0.04307	-1.0125	0.26133	T	0.063	0.26172	T	9	0.06306937	0.08161	T	0.003746	0.08682	T	0.043	0.11576	0.339	0.32979	0.128874641272	0.12493	0.09925729230670419	0.09856	0.150817111893	0.17009	0.336606562138	0.15930	T	0.174057	0.52315	T	-0.302098	0.08464	T	-0.671719	0.07498	T	0.096747561527059	0.11995	T	0.676232	0.28483	T	0.095348746	0.22439	0.046599172	0.06530	0.095348746	0.22438	0.046599172	0.06530	-3.729	0.19747	T	.	.	0.065	0.01884	B	.;.	.;.	1.688363	0.21515	15.23	0.98883705611896733	0.47877	0.35702	0.25363	N	AEFBI	0.116050	0.22792	N	-0.886794806833915	0.11156	0.5368538	-0.856471271489746	0.13132	0.6795677	0.996541291354058	0.34819	0.722319	0.85440	0	0.702456	0.74545	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.07	1.12	0.19700	0.657000	0.24647	-0.506000	0.08774	0.599000	0.40250	0.228000	0.24622	0.000000	0.08366	0.237000	0.22922	0.0:0.6053:0.0:0.3947	7.887	0.28822	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	169.13	34	chr15	80979281	.	C	T	169.13	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.089;DP=647;ExcessHet=0.2348;FS=150.547;InbreedingCoeff=-0.1391;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=2.43;SOR=7.903	GT:AD:DP:GQ:PL	0/1:52,16:68:99:102,0,968	8	0	2	0
chr15	81265752	81265752	A	G	exonic	IL16	.	nonsynonymous SNV	IL16:NM_001172128:exon4:c.A515G:p.N172S,IL16:NM_001352686:exon4:c.A668G:p.N223S,IL16:NM_172217:exon4:c.A515G:p.N172S	.	414	1101	7	0	0	7	0.00316885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0074	0.00778754	0.0039	0.0202	0.0078	0	0	0.0026	0.0072	0.0003	0.0037257	576	154602	rs113332687	0.0027	0.0027	0.0027	0.0026	0.0185	0.0026	0.0026	0.0173	0.0168	0.0185	0.0097	0.0071	0	3.745e-05	0.0182	0.0019	0.0062	0.0003	0.0084	0.0084	0.0081	0.0087	0.0194	0.0080	0.0079	0.0183	0.0178	0.0194	0.0011	0.0166	0.0069	0	0	0.0204	0.0023	0.0142	0.0004	0.441	0.09776	T	0.849	0.03517	T	0.02	0.18235	B	0.015	0.17295	B	0.789746	0.09406	N	0.891555	0.987994	0.24458	N	0.625	0.15840	N	2.4	0.15608	T	-0.61	0.23808	N	0.053	0.02759	-0.9020	0.47782	T	0.006	0.02206	T	10	0.0039637387	0.00076	T	.	.	.	0.043	0.11576	.	.	0.0884992946249	0.08302	0.2180917213140332	0.21725	0.0855303882618	0.09661	0.279260963202	0.07389	T	0.091636	0.41030	T	-0.727889	0.00025	T	-0.802743	0.01835	T	0.004149775555074	0.00044	T	0.775622	0.40735	T	0.036475487	0.04493	0.04063871	0.04439	0.036475487	0.04493	0.04063871	0.04439	-3.057	0.10809	T	.	.	0.055	0.00382	B	.;.;.	.;.;.	-0.052769	0.03933	0.873	0.6778320916592675	0.08459	0.51459	0.28900	D	AEFDGBHCI	0.051266	0.09041	N	-1.30203455344777	0.03652	0.1635313	-1.28811543319579	0.04591	0.2168827	0.999997098285051	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.607795	0.38427	0	0.554799	0.18163	0	.	.	4.45	-3.76	0.04074	0.952000	0.28747	0.026000	0.13662	-0.054000	0.16847	0.929000	0.32243	0.000000	0.08366	0.161000	0.20682	0.5063:0.0:0.4937:0.0	11.310	0.48595	813	0.42397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.037261	0.121212	0.051630	0.002924	0.050000	0.000000	0.006098	0.007576	0.05	1105.43	34	chr15	81265752	.	A	G	1105.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.731;DP=440;ExcessHet=0;FS=1.525;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.161;SOR=0.85	GT:AD:DP:GQ:PL	0/1:59,50:109:99:1117,0,1323	9	0	1	0
chr15	81332888	81332890	TCT	-	exonic	TMC3	.	nonframeshift deletion	TMC3:NM_001080532:exon22:c.2832_2834del:p.E947del	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.00399361	0.0020	0.0049	0.0060	0	0	0.0019	0.0034	0.0003	0.00073	19	26028	rs556446587	0.0018	0.0018	0.0018	0.0018	0.0139	0.0017	0.0017	0.0114	0.0105	0.0039	0.0073	0.0051	0	3.79e-05	0.0139	0.0015	0.0039	0.0003	0.0032	0.0032	0.0031	0.0034	0.0099	0.0030	0.0029	0.0086	0.0081	0.0042	0	0.0099	0.0052	0	0	0.0136	0.0019	0.0061	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032729	0.106061	0.044837	0.008772	0.000000	0.000000	0.003049	0.007576	0.05	1202.39	97	chr15	81332887	.	CTCT	C	1202.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.58;DP=675;ExcessHet=0;FS=6.122;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=0.241;SOR=1.405	GT:AD:DP:GQ:PL	0/1:43,32:75:99:1214,0,1628	9	0	1	0
chr15	82344942	82344942	T	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	59.84	117	chr15	82344942	.	T	*	59.84	.	AC=2;AF=0.333;AN=6;BaseQRankSum=2.45;DP=914;ExcessHet=0.9691;FS=26.476;InbreedingCoeff=-0.3156;MLEAC=3;MLEAF=0.5;MQ=50.96;MQRankSum=-2.926;QD=0.22;ReadPosRankSum=-0.662;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,27:82:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:587,0,1761:82344920	1	0	2	7
chr15	82344961	82344961	C	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	58.34	122	chr15	82344961	.	C	*	58.34	.	AC=2;AF=0.111;AN=18;BaseQRankSum=1.59;DP=925;ExcessHet=0.7463;FS=31.213;InbreedingCoeff=-0.2122;MLEAC=2;MLEAF=0.111;MQ=50.87;MQRankSum=-3.044;QD=0.21;ReadPosRankSum=0.146;SOR=1.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,27:82:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:587,0,1761:82344920	7	0	2	1
chr15	82345004	82345046	ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	812.61	68	chr15	82345004	.	ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	*	812.61	.	AC=1;AF=0.125;AN=8;BaseQRankSum=2.39;DP=691;ExcessHet=0.0514;FS=21.632;InbreedingCoeff=-0.084;MLEAC=2;MLEAF=0.25;MQ=48.06;MQRankSum=0.618;QD=4.1;ReadPosRankSum=2.91;SOR=1.142	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,27:82:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:587,0,1761:82344920	3	0	1	6
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2761.96	199	chr15	84512452	.	C	*	2761.96	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.411;DP=1594;ExcessHet=4.5998;FS=0.59;InbreedingCoeff=-0.4286;MLEAC=2;MLEAF=0.1;MQ=44.5;MQRankSum=-1.017;QD=2.35;ReadPosRankSum=0.115;SOR=0.639	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:146,97:245:99:.:.:1005,0,5433:.	8	0	2	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	14490.1	52	chr15	89776903	.	AGGGCAGGGGCAG	*	14490.1	.	AC=4;AF=0.2;AN=20;DP=496;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=4;MLEAF=0.2;MQ=60;QD=33.86;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,14:38:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1574,923,876:89776889	6	0	4	0
chr16	282626	282626	G	A	exonic	ARHGDIG	.	nonsynonymous SNV	ARHGDIG:NM_001176:exon6:c.G490A:p.V164I	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0159108368334	7.7e-05	0.000199681	0.0003	0	0.0032	0	0	3.111e-05	0	0.0003	0.0001423	22	154602	rs201741302	8.17e-05	8.824e-05	8.792e-05	7.538e-05	0.0014	6.951e-05	6.498e-05	0.0011	0.0010	9.013e-05	0.0014	0	2.546e-05	0.0002	0	2.537e-05	5.032e-05	0.0002	5.912e-05	5.905e-05	8.997e-05	2.687e-05	0.0004	3.077e-05	2.21e-05	0.0002	0.0001	0	0	0.0004	0	0.0002	9.418e-05	0	1.471e-05	0	0	0.187	0.25560	T	0.222	0.30143	T	0.007	0.14184	B	0.009	0.14300	B	0.402957	0.13100	N	0.662272	0.999986	0.18198	N	1.79	0.46772	L	.	.	.	-0.4	0.15379	N	0.093	0.07262	-1.0236	0.22541	T	0.080	0.31705	T	9	0.014816493	0.00311	T	0.015911	0.36899	T	0.016	0.02506	.	.	0.44770609447	0.44391	0.11389473140327144	0.11317	0.0553159975291	0.06117	0.396945089102	0.24644	T	0.158216	0.50115	T	-0.526804	0.00401	T	-0.548509	0.17470	T	0.0231598237729006	0.01043	T	0.634137	0.37862	T	0.030576706	0.02745	0.036496066	0.03107	0.030576706	0.02744	0.036496066	0.03107	-4.638	0.32646	T	.	.	0.091	0.13690	B	.;.;.	.;.;.	3.038669	0.40726	21.2	0.97017602159731142	0.32010	0.30643	0.24135	N	AEFDBI	0.281521	0.39508	N	-0.587917005625085	0.19310	1.009658	-0.567879680437363	0.20332	1.095005	0.0518641919751778	0.14887	0.646311	0.45356	0	0.626922	0.53725	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	3.94	1.88	0.24630	1.953000	0.39977	1.989000	0.30069	0.674000	0.70861	0.076000	0.22236	0.834000	0.27239	0.956000	0.50813	0.3678:0.0:0.6322:0.0	6.036	0.18932	743	0.52768	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001014	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.1	1982.14	40	chr16	282626	.	G	A	1982.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.045;DP=500;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=1.2;SOR=0.658	GT:AD:DP:GQ:PL	0/1:39,40:79:99:941,0,942	8	0	2	0
chr16	519002	519002	C	T	exonic	RAB11FIP3	.	nonsynonymous SNV	RAB11FIP3:NM_001142272:exon8:c.C770T:p.A257V,RAB11FIP3:NM_014700:exon10:c.C1700T:p.A567V,RAB11FIP3:NM_001370401:exon11:c.C1835T:p.A612V	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.0437206870333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	4.086e-06	0	0.0005	5.5e-07	1.5e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.57480	T	0.125	0.35330	T	0.999	0.90584	D	0.994	0.86255	D	.	.	.	.	1	0.81001	D	2.425	0.70256	M	.	.	.	-2.82	0.59545	D	0.67	0.68169	-0.2566	0.76180	T	0.391	0.74488	T	8	0.37554854	0.53803	T	0.043721	0.61130	D	0.369	0.68844	0.077	0.00572	0.479878309988	0.47616	0.28636483331691365	0.28549	0.871720008498	0.69427	0.638849496841	0.58400	T	0.125	0.45075	T	0.0956757	0.63822	D	-0.100345	0.63372	T	0.970506072044373	0.68973	D	.	.	.	0.14231993	0.32758	0.23000659	0.48089	0.14231993	0.32758	0.23000659	0.48088	-8.576	0.75729	D	.	.	0.574	0.67819	P	.;.;.	.;.;.	4.865576	0.79668	27.2	0.99863001481749114	0.94093	0.95992	0.67046	D	AEFDGBHCI	0.763824	0.70080	D	0.547062078648954	0.69904	5.423652	0.483068212536089	0.66868	5.008474	0.999999999999741	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	7.687000	0.83428	5.941000	0.51480	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:1.0:0.0:0.0	17.469	0.87533	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	.	.	.	.	.	.	.	.	0.05	1743.43	33	chr16	519002	.	C	T	1743.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.404;DP=461;ExcessHet=0;FS=2.954;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.693;SOR=0.94	GT:AD:DP:GQ:PL	0/1:67,79:146:99:1755,0,1518	9	0	1	0
chr16	633290	633290	C	T	exonic	WFIKKN1	.	nonsynonymous SNV	WFIKKN1:NM_053284:exon2:c.C880T:p.P294S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0143520740483	.	.	8.384e-05	0	0	0	0	0.0001	0.0031	0	3.23e-05	5	154602	rs771102109	1.813e-05	2.189e-05	1.662e-05	1.967e-05	2.406e-05	1.262e-05	1.072e-05	5.35e-06	3.91e-06	0	0	0	0	0.0002	0	9.975e-06	3.366e-05	2.406e-05	3.285e-05	3.283e-05	3.854e-05	2.689e-05	2.94e-05	1.261e-05	7.98e-06	4.88e-06	1.83e-06	0	0	0	0	0	0.0003	0	2.94e-05	0	0	0.133	0.26409	T	0.09	0.40267	T	0.001	0.07471	B	0.002	0.06944	B	0.002186	0.37053	U	0.225743	1	0.08975	N	0.69	0.16971	N	-0.45	0.69896	T	-2.97	0.61865	D	0.043	0.01577	-0.9718	0.36819	T	0.174	0.51737	T	10	0.063440025	0.08264	T	0.014352	0.34408	T	0.070	0.20419	0.268	0.21576	0.282575091529	0.27877	0.2855127643305309	0.28464	0.114350962991	0.12892	0.468533277512	0.34478	T	0.165437	0.51128	T	-0.270361	0.11717	T	-0.518475	0.20449	T	0.0280928185548542	0.01701	T	0.352565	0.07917	T	0.043736838	0.06868	0.06222071	0.12138	0.043736838	0.06868	0.06222071	0.12138	-4.58	0.31920	T	.	.	0.076	0.05935	B	.	.	0.584629	0.09533	6.307	0.91554612880113595	0.20833	0.11081	0.16394	N	AEFBCI	0.107284	0.21379	N	-0.918016106993844	0.10421	0.4978847	-0.944348279167968	0.11055	0.5608167	0.999828792590429	0.43622	0.650006	0.45971	0	0.550933	0.16991	0	0.606735	0.37207	0	0.604944	0.38103	0	.	.	4.7	1.63	0.22882	1.010000	0.29500	-0.322000	0.09956	0.522000	0.23927	0.001000	0.13787	0.000000	0.08366	0.059000	0.15899	0.1418:0.6265:0.152:0.0798	5.386	0.15519	649	0.63102	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	738.43	37	chr16	633290	.	C	T	738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.916;DP=395;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=0.872;SOR=0.709	GT:AD:DP:GQ:PL	0/1:35,33:68:99:750,0,880	9	0	1	0
chr16	1258332	1258332	G	A	exonic	TPSD1	.	nonsynonymous SNV	TPSD1:NM_012217:exon5:c.G685A:p.G229S	.	390	1107	23	2	0	27	0.0120482	0.9334	0.564	.	714734	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.703	.	0.0102	0.00479233	0.0075	0.0016	0.0039	0	0.0045	0.0110	0.0100	0.0043	0.0074126	1146	154602	rs142998820	0.0093	0.0093	0.0093	0.0093	0.0111	0.0091	0.0091	0.0097	0.0097	0.0017	0.0045	0.0359	0	0.0044	0.0111	0.0099	0.0098	0.0052	0.0078	0.0078	0.0081	0.0074	0.0112	0.0074	0.0073	0.0105	0.0102	0.0017	0.0417	0.0055	0.0369	0	0.0046	0.0102	0.0112	0.0085	0.0060	0.009	0.57480	D	0.017	0.60972	D	1.0	0.90584	D	1.0	0.97372	D	0.000228	0.47286	D	0.000000	1	0.81001	D	3.005	0.85968	M	-4.61	0.97866	D	-4.61	0.79060	D	0.429	0.46928	0.728	0.93516	D	0.919	0.97318	D	9	0.016424358	0.00346	T	.	.	.	0.703	0.89330	.	.	0.804267880867	0.80244	0.6752871873496633	0.67466	0.0621744941598	0.06921	0.610076010227	0.54326	T	0.578527	0.86161	D	-0.197127	0.21220	T	-0.0465408	0.67259	D	0.0270117525147711	0.01546	T	0.931607	0.74555	D	0.5408749	0.69445	0.44220585	0.67478	0.5408749	0.69446	0.44220585	0.67479	-7.504	0.57638	D	.	.	0.831	0.78781	P	.;.	.;.	3.110988	0.41967	21.5	0.99648163673959289	0.77130	0.85664	0.44821	D	AEFDGBI	0.573316	0.57655	D	0.496551587034075	0.66887	5.008855	0.276815368016481	0.54188	3.584628	0.559815261531564	0.21404	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	2.56	1.43	0.21585	2.491000	0.44961	5.272000	0.48155	0.579000	0.29447	0.994000	0.38300	1.000000	0.68203	0.020000	0.11549	0.0:0.2335:0.7665:0.0	8.842	0.34308	889	0.27310	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	.	.	.	.	.	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	0.008056	0.010101	0.008152	0.014620	0.000000	0.000000	0.012195	0.003788	0.1	3955.14	35	chr16	1258332	.	G	A	3955.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.16;DP=590;ExcessHet=0.2348;FS=2.459;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.87;SOR=0.752	GT:AD:DP:GQ:PL	0/1:65,57:122:99:1614,0,1643	8	0	2	0
chr16	1338671	1338671	C	T	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon2:c.C122T:p.T41M,BAIAP3:NM_001199097:exon2:c.C122T:p.T41M,BAIAP3:NM_001199098:exon2:c.C122T:p.T41M,BAIAP3:NM_001199099:exon2:c.C122T:p.T41M,BAIAP3:NM_001286464:exon2:c.C122T:p.T41M,BAIAP3:NM_003933:exon2:c.C227T:p.T76M	.	422	1071	28	1	0	30	0.0138122	.	.	.	2810771	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.157	0.133938732546	0.0032	0.00239617	0.0046	0.0017	0.0032	0	0	0.0066	0.0030	0.0034	0.0001153	3	26028	rs116106398	0.0027	0.0027	0.0026	0.0028	0.0148	0.0026	0.0026	0.0120	0.0110	0.0009	0.0027	0.0094	0	0.0004	0.0148	0.0027	0.0035	0.0022	0.0024	0.0024	0.0026	0.0022	0.0034	0.0022	0.0022	0.0030	0.0029	0.0005	0.0186	0.0024	0.0121	0	0.0002	0.0102	0.0034	0.0061	0.0015	0.003	0.68238	D	0.012	0.64786	D	0.909	0.50183	P	0.132	0.33005	B	0.331854	0.04136	N	1.454820	1	0.08975	N	1.95	0.52479	M	-0.66	0.75911	T	-1.67	0.42001	N	0.136	0.18103	-0.7756	0.56548	T	0.256	0.62609	T	10	0.00945434	0.00213	T	0.133939	0.81635	D	0.157	0.40909	.	.	0.809702280485	0.80792	0.18561226831714903	0.18479	0.367601646659	0.38318	0.446947932243	0.31528	T	0.021538	0.16755	T	-0.47248	0.00820	T	-0.453251	0.27339	T	0.0170211522024216	0.00451	T	0.715028	0.33194	T	0.034656517	0.03931	0.08701322	0.20198	0.034656517	0.03930	0.08701322	0.20198	-5.697	0.44189	T	.	.	0.088	0.18080	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.732495	0.22052	15.46	0.98484299658592467	0.42014	0.16601	0.19464	N	AEFDBCI	0.106268	0.21208	N	-0.42113820322934	0.24729	1.337356	-0.556439068400603	0.20635	1.112647	0.0147279066516619	0.12630	0.580535	0.33130	0	0.657636	0.61667	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.59	2.35	0.28166	0.169000	0.16457	0.278000	0.16735	-0.946000	0.02057	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.4479:0.5521:0.0:0.0	9.184	0.36318	872	0.31118	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.009654	0.015625	0.014986	0.005882	0.000000	0.017241	0.012422	0.003817	0.05	707.43	39	chr16	1338671	.	C	T	707.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.59;DP=424;ExcessHet=0;FS=0.936;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.182;SOR=0.844	GT:AD:DP:GQ:PL	0/1:43,28:71:99:719,0,1007	9	0	1	0
chr16	1434535	1434535	C	T	splicing	CCDC154	NM_001143980:exon17:c.1878-1G>A	.	.	.	407	1108	7	0	0	7	0.0031489	1.0000	0.858	.	2810779	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0.0068	0.0021	0	0	0	0.0116	0.0060	0.0042	0.0014101	218	154602	rs117318560	0.0050	0.0048	0.0051	0.0049	0.0074	0.0049	0.0049	0.0056	0.0050	0.0009	0.0041	0.0239	0	0.0009	0.0074	0.0051	0.0064	0.0029	0.0040	0.0040	0.0044	0.0037	0.0056	0.0038	0.0037	0.0051	0.0049	0.0010	0.0186	0.0033	0.0262	0	0.0003	0.0034	0.0056	0.0062	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.162877	0.26320	T	-0.00592191	0.69951	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.401336	0.68008	25.2	0.99149363192581197	0.53765	0.94912	0.62762	D	AEFBI	.	.	.	0.829010122818223	0.87884	9.374687	0.622105996286619	0.76549	6.511437	0.945855869592766	0.27680	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.079188	0.02158	0	0.974157	0.76750	4.88	4.88	0.63131	1.937000	0.39821	5.346000	0.48359	0.545000	0.25583	0.998000	0.41325	1.000000	0.68203	0.328000	0.25156	0.0:1.0:0.0:0.0	14.749	0.69131	783	0.47268	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1011.43	48	chr16	1434535	.	C	T	1011.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.91;DP=476;ExcessHet=0;FS=4.744;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.393;SOR=1.358	GT:AD:DP:GQ:PL	0/1:35,40:75:99:1023,0,726	9	0	1	0
chr16	1978439	1978439	G	A	exonic	TBL3	.	nonsynonymous SNV	TBL3:NM_006453:exon21:c.G2261A:p.R754Q	.	.	.	.	.	.	.	.	.	.	.	3335443	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.118	0.025252819725	.	.	6.089e-05	0	0	0.0001	0	4.747e-05	0	0.0002	4.53e-05	7	154602	rs199953677	3.156e-05	3.215e-05	2.457e-05	3.862e-05	0.0005	2.419e-05	2.164e-05	0.0001	7.57e-05	2.99e-05	0	0	0	0	0.0005	3.062e-05	1.66e-05	8.153e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	6.542e-05	5.24e-06	2.45e-06	.	.	2.413e-05	0	6.542e-05	0	0	0	0	1.471e-05	0	0	0.393	0.10730	T	0.548	0.09489	T	0.203	0.29776	B	0.026	0.20792	B	0.643692	0.10576	N	0.858749	1	0.08975	N	-0.03	0.05048	N	0.13	0.60973	T	-0.48	0.15379	N	0.135	0.13198	-1.0178	0.24431	T	0.038	0.16376	T	9	0.059767365	0.07237	T	0.025253	0.48226	D	.	.	0.557	0.67547	0.143124449307	0.13826	0.29067965646116417	0.28980	0.16639706071	0.18776	0.400834143162	0.25185	T	0.014131	0.12091	T	-0.353316	0.04522	T	-0.54074	0.18223	T	0.0357568376949674	0.02937	T	0.662834	0.27173	T	0.030007852	0.02591	0.0399477	0.04207	0.030007852	0.02590	0.0399477	0.04206	-7.084	0.54645	T	.	.	0.079	0.07365	B	.	.	0.339267	0.07128	3.708	0.86245919452421138	0.16408	0.09589	0.15311	N	AEFDBI	0.137213	0.25812	N	-1.48604200935472	0.01948	0.08552655	-1.50544124547923	0.02302	0.1056526	0.986374704576619	0.31052	0.631515	0.41029	0	0.697927	0.68747	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	5.13	-2.98	0.05179	-0.020000	0.12466	-0.292000	0.10184	-0.946000	0.02057	0.000000	0.06391	0.002000	0.18203	0.003000	0.05239	0.5926:0.0:0.4074:0.0	12.095	0.53050	730	0.54327	Small-subunit processome, Utp13	.	.	.	.	.	Likely benign	0	0	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	0.008621	0.000000	0.000000	0.05	1435.43	33	chr16	1978439	.	G	A	1435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.36;DP=443;ExcessHet=0;FS=1.605;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-1.402;SOR=0.881	GT:AD:DP:GQ:PL	0/1:57,52:109:99:1447,0,1454	9	0	1	0
chr16	2099895	2099895	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon29:c.G9889A:p.V3297M,PKD1:NM_001009944:exon29:c.G9889A:p.V3297M	Polycystic kidney disease, adult type I, Autosomal dominant	57	1457	6	2	0	10	0.00341997	.	.	YES	793585	PKD1-related_disorder|not_provided|not_specified|Polycystic_kidney_disease,_adult_type	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.722	0.724504472928	.	.	0.0002	0	0	0	0	0.0001	0	0.0004	6.47e-05	10	154602	rs775497330	0.0001	0.0001	0.0001	0.0001	0.0020	0.0001	0.0001	0.0010	0.0007	3.088e-05	0.0002	0	0	2.036e-05	0.0020	6.521e-05	0.0006	0.0007	9.197e-05	9.193e-05	2.569e-05	0.0002	0.0002	5.527e-05	4.364e-05	2.846e-05	1.858e-05	7.236e-05	0	0.0001	0.0003	0	0	0	7.35e-05	0.0010	0.0002	0.011	0.55530	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.97372	D	0.000312	0.45977	D	0.143609	0.996838	0.43448	D	0.835	0.21042	L	1.93	0.22881	T	0.24	0.04776	N	0.729	0.73015	-1.0504	0.14285	T	0.086	0.33298	T	10	0.74334395	0.75113	D	0.724504	0.97776	D	0.722	0.90191	0.467	0.53891	0.629626237659	0.62660	0.3905479971090743	0.38969	.	.	0.465557068586	0.34072	T	0.146281	0.48380	T	-0.32309	0.06648	T	-0.343292	0.39971	T	0.0597434812006019	0.07128	T	0.820318	0.47908	T	0.05384064	0.10247	0.06562255	0.13325	0.057556137	0.11469	0.062111028	0.12100	-4.072	0.24876	T	0.12194889120446728	0.11630	0.130	0.28027	B	.;.	.;.	2.925661	0.38855	20.8	0.99374468446223174	0.61585	0.87419	0.46953	D	AEFBI	0.321792	0.42448	N	0.148902148646418	0.48761	3.084368	0.131516588069759	0.46169	2.867399	0.0423775091082877	0.14524	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	1.838000	0.38851	0.503000	0.19012	-0.183000	0.09960	0.929000	0.32243	0.059000	0.21998	0.005000	0.06747	0.0:1.0:0.0:0.0	17.809	0.88520	740	0.53092	.;.	.	.	.	.	.	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	0.004566	0.000000	0.004132	0.000000	0.000000	0.000000	0.003546	0.016260	0.05	1262.43	33	chr16	2099895	.	C	T	1262.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.699;DP=428;ExcessHet=0;FS=1.506;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.49;MQRankSum=-0.801;QD=11.07;ReadPosRankSum=2.59;SOR=0.523	GT:AD:DP:GQ:PL	0/1:60,54:114:99:1274,0,1568	9	0	1	0
chr16	2109711	2109711	G	A	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon15:c.C5456T:p.A1819V,PKD1:NM_001009944:exon15:c.C5456T:p.A1819V	Polycystic kidney disease, adult type I, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.148386793837	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219400725	1.381e-06	2.052e-06	2.744e-06	0	1.806e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.806e-06	0	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.017	0.51248	D	0.021	0.58089	D	0.633	0.42206	P	0.403	0.44588	B	0.003378	0.35041	N	0.304363	1	0.08975	N	2.3	0.65703	M	0.16	0.60610	T	-1.36	0.33798	N	0.231	0.26957	-0.9208	0.45445	T	0.170	0.51003	T	10	0.41965383	0.56777	T	0.148387	0.83031	D	0.217	0.51112	0.544	0.65731	0.865393628664	0.86408	0.312230030919002	0.31136	.	.	0.471536934376	0.34892	T	0.205817	0.56498	T	-0.100924	0.36271	T	-0.382747	0.35401	T	0.27822932600975	0.24097	T	0.671133	0.27986	T	0.09915675	0.23397	0.06443914	0.12916	0.09915675	0.23397	0.06443914	0.12916	-3.001	0.10213	T	0.09999353758619864	0.07328	0.088	0.11461	B	.;.	.;.	1.320778	0.17251	13.05	0.991675302171106	0.54298	0.86434	0.45713	D	AEFBI	0.574457	0.57724	D	-0.215074265946172	0.32515	1.834527	-0.317073500186519	0.27548	1.529333	0.00398788143250928	0.10368	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.71	1.68	0.23219	5.352000	0.65795	4.394000	0.43224	0.672000	0.70159	0.958000	0.33488	0.902000	0.27988	0.001000	0.02609	0.2286:0.0:0.7714:0.0	9.574	0.38610	654	0.62520	PKD domain|PKD/Chitinase domain|Polycystin cation channel;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1275.43	34	chr16	2109711	.	G	A	1275.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.656;DP=400;ExcessHet=0;FS=1.919;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.78;MQRankSum=-5.371;QD=16.14;ReadPosRankSum=0.795;SOR=0.465	GT:AD:DP:GQ:PL	0/1:35,44:79:99:1287,0,1011	9	0	1	0
chr16	2110903	2110903	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon15:c.G4264A:p.A1422T,PKD1:NM_001009944:exon15:c.G4264A:p.A1422T	Polycystic kidney disease, adult type I, Autosomal dominant	0	1459	63	0	0	63	0.0211338	.	.	YES	255621	Polycystic_kidney_disease,_adult_type|not_specified|Polycystic_kidney_disease|PKD1-related_disorder|Autosomal_dominant_polycystic_kidney_disease|not_provided	MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|.|MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.018	.	0.0062	0.00439297	0.0060	0.0010	0.0039	0	0.0011	0.0087	0.0114	0.0046	0.0052587	813	154602	rs140980374	0.0055	0.0055	0.0055	0.0055	0.0489	0.0054	0.0053	0.0438	0.0418	0.0018	0.0039	0.0313	0	0.0015	0.0489	0.0052	0.0080	0.0043	0.0050	0.0050	0.0051	0.0048	0.0066	0.0047	0.0046	0.0056	0.0055	0.0011	0	0.0066	0.0343	0.0002	0.0011	0.0476	0.0061	0.0109	0.0052	0.408	0.10212	T	0.469	0.12281	T	0.083	0.24734	B	0.016	0.17743	B	0.050289	0.02010	N	1.849850	1	0.08975	N	0.09	0.08384	N	0.2	0.60111	T	0.14	0.07299	N	0.085	0.10056	-1.0837	0.06646	T	0.063	0.26101	T	10	0.004206896	0.00084	T	.	.	.	0.018	0.03083	.	.	0.554512861526	0.55110	0.1595016433388556	0.15871	.	.	0.313498318195	0.12435	T	0.14814	0.48654	T	-0.574826	0.00207	T	-0.588086	0.13831	T	0.000983470398017093	0.00009	T	0.241376	0.03476	T	0.026695253	0.01759	0.039109476	0.03930	0.024509832	0.01289	0.03141386	0.01727	-4.259	0.27598	T	.	.	0.068	0.02765	B	.;.	.;.	-0.537291	0.01752	0.132	0.5816343026315014	0.05931	0.08769	0.14649	N	AEFDBI	0.101493	0.20382	N	-1.57943668556335	0.01370	0.05972494	-1.60320823478749	0.01636	0.0742432	6.34175795696538E-4	0.07505	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.77	-1.84	0.07387	-0.060000	0.11669	-3.211000	0.02967	-1.044000	0.01656	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1824:0.3674:0.0:0.4502	3.443	0.07038	650	0.62973	PKD domain|PKD domain|PKD/Chitinase domain|Polycystin cation channel;.	.	.	.	.	.	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	0.040541	0.012346	0.061644	0.068376	0.166667	0.051724	0.010204	0.012000	0.05	2489.43	34	chr16	2110903	.	C	T	2489.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=623;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.76;MQRankSum=0.937;QD=15.18;ReadPosRankSum=-0.084;SOR=0.684	GT:AD:DP:GQ:PL	0/1:67,97:164:99:2501,0,1440	9	0	1	0
chr16	8570005	8570005	G	A	exonic	TMEM114	.	nonsynonymous SNV	TMEM114:NM_001290095:exon3:c.C302T:p.T101I,TMEM114:NM_001146336:exon4:c.C440T:p.A147V,TMEM114:NM_001290097:exon4:c.C197T:p.A66V	.	0	1451	65	6	0	77	0.0258476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	.	0.0046	0.00319489	0.0074	0.0008	0	0	0	0.0076	0	0.0094	0.0016753	259	154602	rs141472774	0.0055	0.0053	0.0055	0.0056	0.0173	0.0054	0.0054	0.0145	0.0135	0.0010	0.0021	0.0107	0	0.0025	0.0173	0.0057	0.0064	0.0078	0.0040	0.0040	0.0042	0.0038	0.0070	0.0037	0.0036	0.0055	0.0053	0.0011	0	0.0032	0.0092	0	0.0018	0.0272	0.0060	0.0066	0.0070	.	.	.	0.045	0.49390	D	0.995	0.67487	D	0.946	0.68276	D	.	.	.	.	.	.	.	2.48	0.72069	M	.	.	.	.	.	.	0.679	0.71232	-0.1479	0.78967	T	0.344	0.70923	T	7	0.00557217	0.00123	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.6843745277395868	0.68376	.	.	0.504805743694	0.39498	T	0.032189	0.22378	T	-0.428688	0.01509	T	-0.382725	0.35404	T	0.0273435216915867	0.01593	T	0.880312	0.59828	D	0.13088708	0.30526	0.33624232	0.59429	0.13088708	0.30526	0.33624232	0.59428	-9.664	0.71876	D	.	.	0.557	0.67085	A	.;.	.;.	5.037345	0.83818	28.1	0.99843652617835343	0.92403	0.89397	0.49837	D	AEFDBI	0.651891	0.62548	D	0.588833658082171	0.72476	5.81192	0.514427979412752	0.68961	5.292708	0.999999802251422	0.74766	0.50284	0.20314	0	0.547309	0.14657	0	0.338622	0.05889	2	0.530356	0.10902	0	.	.	4.79	4.79	0.60909	4.990000	0.63609	9.440000	0.80826	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.413000	0.27073	0.0:0.0:1.0:0.0	16.824	0.85791	981	0.03995	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015343	0.006757	0.010417	0.030534	0.000000	0.000000	0.024038	0.020270	0.05	570.43	33	chr16	8570005	.	G	A	570.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.951;DP=332;ExcessHet=0;FS=1.24;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-1.578;SOR=1.101	GT:AD:DP:GQ:PL	0/1:19,24:43:99:582,0,457	9	0	1	0
chr16	10694795	10694795	C	T	exonic	TEKT5	.	nonsynonymous SNV	TEKT5:NM_144674:exon1:c.G79A:p.V27I	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0078	0.00339457	0.0066	0.0015	0.0029	0	0.0038	0.0091	0.0046	0.0069	0.0065976	1020	154602	rs61731533	0.0096	0.0096	0.0095	0.0097	0.0111	0.0094	0.0094	0.0109	0.0109	0.0013	0.0029	0.0035	5.038e-05	0.0050	0.0066	0.0111	0.0078	0.0068	0.0060	0.0060	0.0063	0.0057	0.0103	0.0057	0.0056	0.0097	0.0094	0.0018	0.0022	0.0033	0.0023	0	0.0029	0.0034	0.0103	0.0066	0.0075	1.0	0.00964	T	1.0	0.01155	T	0.094	0.25382	B	0.014	0.16862	B	0.124729	0.02757	N	1.902590	1	0.08975	N	1.95	0.52479	M	4.26	0.02538	T	0.0	0.07008	N	0.064	0.03613	-0.9154	0.46168	T	0.006	0.01944	T	10	0.0047971606	0.00101	T	.	.	.	0.030	0.07022	.	.	0.0846915920261	0.08053	0.16170722598953352	0.16091	0.0229737181384	0.02324	0.288652807474	0.08726	T	0.005992	0.05431	T	-0.724747	0.00026	T	-0.802794	0.01833	T	0.000307336298735413	0.00002	T	0.359864	0.08266	T	0.020847002	0.00658	0.023667308	0.00380	0.020847002	0.00658	0.023667308	0.00380	-3.793	0.20700	T	.	.	0.072	0.04316	B	.	.	-0.513565	0.01825	0.144	0.42045500763704391	0.03073	0.11876	0.16918	N	AEFDGBI	0.074899	0.15026	N	-1.2717455739678	0.04020	0.1806595	-1.29849188015234	0.04451	0.2099952	0.330834579795098	0.19484	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.46	0.037	0.13513	0.275000	0.18461	.	.	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5188:0.0:0.4812	8.111	0.30074	970	0.06235	.	.	.	TEKT5	Testis	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.004076	0.002924	0.000000	0.000000	0.018293	0.003788	0.05	837.43	33	chr16	10694795	.	C	T	837.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.455;DP=404;ExcessHet=0;FS=0.863;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.52;SOR=0.818	GT:AD:DP:GQ:PL	0/1:39,37:76:99:849,0,920	9	0	1	0
chr16	11475684	11475684	C	T	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon20:c.G2764A:p.V922M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs947695322	2.027e-05	1.59e-05	8.221e-06	3.198e-05	1.898e-05	7.93e-06	4.31e-06	5.05e-06	2.4e-06	0	0	0	0	0	0	1.898e-05	0.0001	0	1.971e-05	1.97e-05	1.285e-05	2.69e-05	7.237e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08383924	0.13988	T	.	.	.	.	.	.	.	0.119812018005	0.11559	.	.	.	.	.	.	.	.	.	.	-0.251096	0.13964	T	-0.598458	0.12941	T	.	.	.	0.346065	0.07604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.12702	B	.	.	-0.682054	0.01363	0.077	0.8278916228045482	0.14376	0.00527	0.02446	N	AEFBI	0.035354	0.04537	N	.	.	.	.	.	.	0.959716858075821	0.28443	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.0	-6.35	0.01802	-0.754000	0.04892	-5.452000	0.01713	-2.308000	0.00320	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.332:0.1323:0.5357	6.463	0.21170	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	.	.	.	.	.	.	.	.	0.1	1932.14	43	chr16	11475684	.	C	T	1932.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.419;DP=457;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.58;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,42:80:99:1|0:11475662_G_C:991,0,1363:11475662	8	0	2	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	33293.6	178	chr16	11927475	.	G	*	33293.6	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.1;DP=1578;ExcessHet=0.2065;FS=0.681;InbreedingCoeff=0.2;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=22.33;ReadPosRankSum=1.16;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,42:120:99:1|0:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:3799,2238,3029:11927441	8	0	2	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	.	.	.	.	.	.	.	.	0.5	1673.04	150	chr16	14582206	.	G	C	1673.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.707;DP=1877;ExcessHet=22.563;FS=418.632;InbreedingCoeff=-0.9999;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=2.08;SOR=13.119	GT:AD:DP:GQ:PL	0/1:132,47:179:33:33,0,1810	0	0	10	0
chr16	15615974	15615974	C	T	exonic	MARF1	.	nonsynonymous SNV	MARF1:NM_001184998:exon16:c.G3109A:p.D1037N,MARF1:NM_001184999:exon16:c.G3100A:p.D1034N,MARF1:NM_014647:exon16:c.G3109A:p.D1037N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.00405646511435	8.3e-05	0.000399361	4.24e-05	0.0002	0	0	0	0	0	0.0002	5.17e-05	8	154602	rs368140283	2.01e-05	2.394e-05	1.138e-05	2.898e-05	0.0002	1.394e-05	1.2e-05	8.485e-05	5.78e-05	0.0002	0	4.22e-05	0	0	0.0002	6.513e-06	0.0001	7.84e-05	5.915e-05	5.907e-05	6.427e-05	5.379e-05	0.0002	3.078e-05	2.21e-05	9.551e-05	6.952e-05	0.0002	0	0	0	0	0	0	0	0	0.0002	0.172	0.22660	T	0.258	0.23845	T	.	.	.	.	.	.	0.050087	0.23103	N	0.485483	0.800514	0.42341	D	1.59	0.40313	L	.	.	.	-1.39	0.34397	N	0.279	0.31590	-0.9036	0.47606	T	0.163	0.49864	T	9	0.14400542	0.27335	T	0.004056	0.09650	T	0.227	0.52620	.	.	0.171220215726	0.16700	0.18883747213052474	0.18801	0.634517071315	0.57304	0.322781205177	0.13842	T	0.031678	0.22152	T	-0.394979	0.02497	T	-0.512987	0.21008	T	0.0892833322286606	0.11132	T	0.915608	0.69895	D	0.052035686	0.09645	0.06337761	0.12544	0.052035686	0.09645	0.06337761	0.12544	-3.371	0.14882	T	.	.	0.065	0.01934	B	.;.;.;.	.;.;.;.	2.894404	0.38345	20.7	0.99506277908771923	0.68322	0.90501	0.51730	D	AEFBCI	0.574679	0.57737	D	0.00420919677695771	0.42047	2.526099	0.10738762513524	0.44925	2.764973	0.999999873023898	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.96	4.96	0.65153	5.705000	0.68009	2.765000	0.34631	0.599000	0.40250	1.000000	0.71638	0.921000	0.28324	0.962000	0.52141	0.0:1.0:0.0:0.0	18.216	0.89823	668	0.61153	OST-HTH/LOTUS domain;OST-HTH/LOTUS 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	.	.	.	.	.	.	.	.	0.05	796.43	38	chr16	15615974	.	C	T	796.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.17;DP=400;ExcessHet=0;FS=9.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=0.516;SOR=1.695	GT:AD:DP:GQ:PL	0/1:59,32:91:99:808,0,1393	9	0	1	0
chr16	22133039	22133039	C	A	exonic	VWA3A	.	nonsynonymous SNV	VWA3A:NM_173615:exon20:c.C2012A:p.A671D	.	429	1065	26	2	0	30	0.0138889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0208582834185	0.0002	0.000399361	0.0007	0	0.0002	0	0	0.0003	0.0048	0.0039	0.000608	94	154602	rs374069500	0.0004	0.0004	0.0002	0.0005	0.0049	0.0003	0.0003	0.0034	0.0031	0.0001	2.237e-05	0	5.038e-05	0	0.0049	0.0001	0.0006	0.0036	0.0003	0.0003	0.0002	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	0	0	0.0001	0	0.0002	0	0.0034	0.0002	0.0009	0.0033	0.016	0.53172	D	0.008	0.70582	D	0.999	0.77913	D	0.949	0.68658	D	0.000011	0.62929	D	0.064588	0.994438	0.81001	D	2.175	0.60977	M	2.08	0.49642	T	-3.36	0.75139	D	0.825	0.82057	-1.1573	0.00823	T	0.066	0.27260	T	10	0.016590983	0.00350	T	0.020858	0.43534	T	0.182	0.45420	.	.	0.381746406553	0.37788	0.7247431860439489	0.72418	0.290425186949	0.31450	0.509783446789	0.40192	T	0.052781	0.29257	T	-0.258757	0.13046	T	-0.146569	0.59547	T	0.101674999832226	0.12540	T	0.737426	0.35417	T	0.45108727	0.64109	0.3964381	0.64285	0.45108727	0.64110	0.3964381	0.64285	-15.395	0.96710	D	.	.	0.394	0.71148	A	.;.;.	.;.;.	3.539854	0.49704	22.8	0.99697703530154058	0.80385	0.77786	0.38287	D	AEFBI	0.238348	0.36049	N	0.42430062302623	0.62761	4.497519	0.415977930283627	0.62559	4.473425	0.00390546245915023	0.10332	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	1.772000	0.38182	4.781000	0.44836	0.594000	0.32500	0.993000	0.37899	1.000000	0.68203	0.075000	0.16954	0.0:0.8375:0.0:0.1625	8.553	0.32621	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	0.005539	0.000000	0.004076	0.008772	0.000000	0.017241	0.009146	0.003788	0.1	1710.14	48	chr16	22133039	.	C	A	1710.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.479;DP=435;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=1.51;SOR=0.727	GT:AD:DP:GQ:PL	0/1:34,35:69:99:818,0,834	8	0	2	0
chr16	27403181	27403181	G	A	exonic	IL21R	.	nonsynonymous SNV	IL21R:NM_181079:exon2:c.G11A:p.R4H	Immunodeficiency, primary, autosomal recessive, IL21R-related, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	614421	not_provided|IgE_responsiveness,_atopic|Cryptosporidiosis-chronic_cholangitis-liver_disease_syndrome	MedGen:C3661900|MONDO:MONDO:0007817,MedGen:C1840253,OMIM:147050|MONDO:MONDO:0014082,MedGen:C3554687,OMIM:615207,Orphanet:357329	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0041	0.0035	0	0	0	0.0080	0.0231	0.0021	0.0021474	332	154602	rs117535117	0.0108	0.0090	0.0112	0.0105	0.0124	0.0107	0.0106	0.0122	0.0121	0.0054	0.0079	0.0047	9.163e-05	0.0037	0.0048	0.0124	0.0093	0.0018	0.0086	0.0086	0.0089	0.0083	0.0150	0.0082	0.0081	0.0134	0.0128	0.0057	0.0274	0.0150	0.0046	0	0.0024	0.0102	0.0111	0.0057	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	0.002353	0.000000	0.000000	0.000000	0.000000	0.000000	0.005747	0.010204	0.05	1208.43	38	chr16	27403181	.	G	A	1208.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.429;DP=479;ExcessHet=0;FS=2.396;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-0.507;SOR=0.928	GT:AD:DP:GQ:PL	0/1:61,54:115:99:1220,0,1375	9	0	1	0
chr16	27750046	27750046	G	A	exonic	KATNIP	.	nonsynonymous SNV	KATNIP:NM_015202:exon16:c.G3086A:p.R1029H	.	.	.	.	.	.	.	.	.	.	.	3690920	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.471	0.027194186597	7.7e-05	.	4.123e-05	9.628e-05	0	0	0	6.003e-05	0	0	3.23e-05	5	154602	rs369563369	4.309e-05	4.309e-05	3.539e-05	5.088e-05	0.0002	3.442e-05	3.129e-05	2.999e-05	2.671e-05	8.961e-05	6.708e-05	0.0002	0	0	0.0002	3.957e-05	3.311e-05	6.956e-05	7.229e-05	7.223e-05	0.0001	4.037e-05	0.0002	3.972e-05	3.128e-05	9.566e-05	6.963e-05	0.0002	0	0	0	0	0	0	4.41e-05	0	0	0.02	0.49613	D	0.018	0.59732	D	0.997	0.70673	D	0.941	0.67658	D	0.000000	0.84330	D	0.000000	0.999983	0.54805	D	3.5	0.92762	M	2.1	0.19990	T	-4.04	0.74427	D	0.806	0.80180	-0.7107	0.59918	T	0.175	0.51816	T	10	0.8236482	0.81555	D	0.027194	0.50036	D	0.471	0.76487	.	.	0.638171007754	0.63519	0.8049197048162238	0.80445	0.746761785004	0.63561	0.598674058914	0.52716	T	0.073009	0.34594	T	0.0390774	0.56925	T	0.055024	0.73915	D	0.990931153297424	0.81175	D	0.972503	0.90119	D	0.3875332	0.59856	0.25663894	0.51367	0.3875332	0.59857	0.25663894	0.51366	-12.819	0.88603	D	.	.	0.839	0.79184	P	.	.	5.282693	0.88704	29.7	0.99955650611237035	0.99975	0.99063	0.90684	D	AEFBI	0.807252	0.73134	D	0.830790160284876	0.87988	9.412844	0.744863493291228	0.85772	8.681636	0.999999999999736	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.22	5.22	0.72285	9.750000	0.98081	11.757000	0.95541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.177000	0.21203	0.0:0.0:1.0:0.0	18.761	0.91813	571	0.70397	Domain of unknown function DUF4457	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1570.43	37	chr16	27750046	.	G	A	1570.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=450;ExcessHet=0;FS=0.673;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.868;SOR=0.804	GT:AD:DP:GQ:PL	0/1:63,60:123:99:1582,0,1532	9	0	1	0
chr16	28496534	28496534	G	A	exonic	APOBR	.	nonsynonymous SNV	APOBR:NM_018690:exon2:c.G1493A:p.R498K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0201968943036	0.0005	0.000199681	0.0003	0	0	0	0	0.0003	0	0.0014	0.0002975	46	154602	rs200832612	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0006	0.0006	3.093e-05	0.0001	0	0	0	0.0002	0.0002	0.0002	0.0008	0.0003	0.0003	0.0003	0.0004	0.0004	0.0003	0.0002	0.0002	0.0001	2.406e-05	0.0274	0.0004	0	0	0	0	0.0002	0.0009	0.0002	0.676	0.04482	T	0.995	0.06166	T	0.006	0.13644	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-1.2	0.00838	N	-0.61	0.71779	T	0.63	0.02404	N	0.02	0.00308	-0.9859	0.33615	T	0.094	0.35631	T	9	0.0024457276	0.00037	T	0.020197	0.42744	T	0.038	0.09825	.	.	0.339074221408	0.33521	0.022243401767203803	0.02176	0.0689220398116	0.07714	0.258435308933	0.04706	T	4.26E-4	0.00140	T	-0.564716	0.00238	T	-0.675502	0.07260	T	0.0142870743581392	0.00284	T	0.29617	0.06085	T	0.037005328	0.04663	0.050115924	0.07800	0.037005328	0.04663	0.050115924	0.07799	.	.	.	.	.	0.086	0.10835	B	.;.	.;.	-0.520503	0.01803	0.140	0.69883350896088581	0.09115	0.00070	0.00494	N	AEFDBI	0.053862	0.09742	N	-1.65301309921588	0.01022	0.04432962	-1.66222251794803	0.01314	0.05928336	0.999993619187321	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	4.54	-3.87	0.03939	-2.331000	0.01190	-0.048000	0.12582	-0.118000	0.14412	0.000000	0.06391	0.000000	0.08366	0.142000	0.20019	0.2899:0.1371:0.4389:0.1341	3.254	0.06423	683	0.59664	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1469.14	56	chr16	28496534	.	G	A	1469.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.771;DP=426;ExcessHet=0.2348;FS=17.42;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.472;SOR=0.689	GT:AD:DP:GQ:PL	0/1:26,25:51:99:661,0,699	8	0	2	0
chr16	28757997	28757997	G	T	splicing	NPIPB9	NM_001287251:exon2:c.26-1G>T	.	.	.	583	908	26	5	0	36	0.0194384	0	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1393415693	0.0001	0.0022	9.244e-05	0.0001	0.0004	9.893e-05	9.081e-05	0.0002	0.0002	0	0.0004	0	3.105e-05	6.442e-05	0	0.0001	6.419e-05	0.0001	8.338e-05	0.0006	8.112e-05	8.578e-05	0.0003	4.507e-05	3.364e-05	6.364e-05	4.536e-05	5.428e-05	0	0	0	0	0	0	0.0001	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19599	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562717	0.00244	T	-1.04608	0.00070	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.242196	0.02882	0.411	0.277422824348112	0.01392	0.00027	0.00265	N	AEFI	.	.	.	-0.681580609389436	0.16547	0.8440145	-1.15648077630497	0.06652	0.3209219	9.63470082261451E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0932018	0.20989	.	.	.	-1.695000	0.02014	-7.369000	0.01171	-2.070000	0.00409	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	649	0.63102	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	73.05	35	chr16	28757997	.	G	T	73.05	.	AC=2;AF=0.1;AN=20;DP=320;ExcessHet=0;FS=0;InbreedingCoeff=0.8774;MLEAC=1;MLEAF=0.05;MQ=40;QD=28.9;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:28757992_CA_C:90,6,0:28757992	9	1	0	0
chr16	30121836	30121836	G	C	exonic	MAPK3	.	nonsynonymous SNV	MAPK3:NM_001040056:exon2:c.C341G:p.A114G,MAPK3:NM_001109891:exon2:c.C341G:p.A114G,MAPK3:NM_002746:exon2:c.C341G:p.A114G	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00831672813316	7.7e-05	.	0.0001	0	0	0	0	0.0002	0	0.0002	0.00011	17	154602	rs61736373	0.0002	0.0002	0.0002	0.0002	0.0043	0.0001	0.0001	0.0030	0.0026	0	0.0001	0	0	1.878e-05	0.0043	0.0001	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	9.897e-05	4.809e-05	0	0.0003	0	0	0	0.0068	0.0002	0.0005	0.0006	0.288	0.15149	T	0.367	0.18018	T	0.0	0.14184	B	0.002	0.19048	B	0.001497	0.38855	N	0.290510	0.965175	0.81001	D	0.56	0.15190	N	0.99	0.41750	T	-1.08	0.31576	N	0.217	0.28616	-1.0581	0.12235	T	0.062	0.25994	T	10	0.11001718	0.20547	T	0.008317	0.22029	T	0.020	0.03691	.	.	0.780492144191	0.77847	0.11723864153372086	0.11651	0.658889439953	0.58774	0.514886856079	0.40907	T	0.166817	0.51321	T	-0.446337	0.01187	T	-0.562753	0.16119	T	0.0287946737972913	0.01806	T	0.89621	0.63872	D	0.2789433	0.50946	0.19636172	0.43362	0.2789433	0.50946	0.19636172	0.43361	-5.93	0.50101	T	.	.	0.081	0.11749	B	.;.;.;.;.	.;.;.;.;.	4.313605	0.65958	24.9	0.97427858710050308	0.33911	0.86912	0.46301	D	AEFDGBHCI	0.498334	0.53248	N	-0.0412861623660659	0.39992	2.367522	0.0857258348816602	0.43830	2.676668	0.99999960249252	0.74766	0.626454	0.40138	0	0.80507	0.99744	0	0.643519	0.47002	0	0.56214	0.19341	0	.	.	5.48	4.5	0.54382	3.232000	0.51003	6.548000	0.55903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.1438:0.5765:0.2797	8.710	0.33537	150	0.94078	Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	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	0.1	2116.14	34	chr16	30121836	.	G	C	2116.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.58;DP=488;ExcessHet=0.2348;FS=4.765;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-1.266;SOR=0.999	GT:AD:DP:GQ:PL	0/1:55,43:98:99:957,0,1261	8	0	2	0
chr16	30757015	30757015	G	A	exonic	PHKG2	.	nonsynonymous SNV	PHKG2:NM_000294:exon10:c.G1139A:p.G380E	Cirrhosis due to liver phosphorylase kinase deficiency (3);Glycogen storage disease IXc, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0135069990838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.24372	T	0.238	0.39040	T	0.03	0.20002	B	0.011	0.15521	B	0.104343	0.19707	N	0.428502	1	0.81001	D	1.245	0.31408	L	-0.51	0.70597	T	0.29	0.04161	N	0.244	0.38335	-1.0184	0.24236	T	0.100	0.37290	T	9	0.18824118	0.34371	T	0.013507	0.32968	T	0.063	0.18251	0.292	0.25400	0.829901776571	0.82828	0.20828773629063912	0.20744	0.476650202414	0.46791	.	.	.	0.208669	0.56867	T	-0.0363655	0.46486	T	-0.290013	0.45772	T	0.382868483047775	0.28293	T	0.757524	0.38090	T	0.060579617	0.12446	0.08576688	0.19823	0.060579617	0.12445	0.08576688	0.19823	-2.92	0.09345	T	.	.	0.119	0.30184	B	.;.	.;.	2.849106	0.37614	20.5	0.98987916649640417	0.49882	0.93451	0.58252	D	AEFBCI	0.727985	0.67615	D	-0.0951472951920175	0.37606	2.190223	0.0648046961760952	0.42793	2.59467	0.999879591382078	0.44625	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.85	3.83	0.43287	4.660000	0.61206	6.546000	0.55897	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0738:0.2807:0.6455:0.0	9.206	0.36451	10	0.99061	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2717.14	35	chr16	30757015	.	G	A	2717.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.08;DP=491;ExcessHet=0.2348;FS=0.529;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.307;SOR=0.648	GT:AD:DP:GQ:PL	0/1:56,55:111:99:1405,0,1404	8	0	2	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	.	.	.	.	.	.	.	.	0.15	314.43	34	chr16	50669118	.	A	G	314.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.867;DP=999;ExcessHet=0.7463;FS=107.622;InbreedingCoeff=-0.1756;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.64;ReadPosRankSum=1.77;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,35:192:99:0|1:50669118_A_G:238,0,4761:50669118	7	0	3	0
chr16	56888022	56888022	G	C	exonic	SLC12A3	.	nonsynonymous SNV	SLC12A3:NM_000339:exon18:c.G2276C:p.G759A,SLC12A3:NM_001126107:exon18:c.G2273C:p.G758A,SLC12A3:NM_001126108:exon18:c.G2276C:p.G759A	Gitelman syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0318849644138	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202152707	2.746e-06	2.736e-06	2.733e-06	2.759e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.562e-05	0	0	0	0	0	0.0005	9.025e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.42783	D	0.213	0.26467	T	0.023	0.23051	B	0.023	0.27651	B	0.017244	0.27771	N	0.389167	0.999997	0.58761	D	1.815	0.47718	L	-2.85	0.91363	D	-3.41	0.67129	D	0.567	0.59053	-0.7392	0.58493	T	0.218	0.58007	T	9	0.4858545	0.60703	T	0.031885	0.53858	D	0.094	0.27141	0.549	0.66436	0.912159565237	0.91128	0.5958286627722365	0.59512	0.0952218268769	0.10748	0.549659192562	0.45809	T	0.658512	0.89723	D	0.0908672	0.63286	D	-0.107252	0.62830	T	0.683103203773499	0.39930	D	0.90121	0.65680	D	0.44606522	0.63791	0.4305308	0.66700	0.44606522	0.63792	0.4305308	0.66700	-8.856	0.66985	D	0.2276149278488865	0.30774	0.165	0.38245	B	.;.;.;.	.;.;.;.	2.727321	0.35692	19.96	0.98986737300184324	0.49861	0.96792	0.70964	D	AEFDGBI	0.510573	0.53957	D	-0.107369899313568	0.37070	2.151577	0.00304231934940324	0.39857	2.369575	0.986635073207277	0.31098	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.7	3.74	0.42108	3.519000	0.53214	5.671000	0.49256	0.596000	0.33519	0.999000	0.42656	1.000000	0.68203	0.993000	0.69303	0.0819:0.0:0.9181:0.0	12.668	0.56215	561	0.71236	.;.;SLC12A transporter, C-terminal;SLC12A transporter, 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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1138.43	37	chr16	56888022	.	G	C	1138.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.473;DP=454;ExcessHet=0;FS=1.478;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=-0.46;SOR=0.91	GT:AD:DP:GQ:PL	0/1:66,53:119:99:1150,0,1575	9	0	1	0
chr16	58258516	58258516	G	A	exonic	CCDC113	.	nonsynonymous SNV	CCDC113:NM_001142302:exon3:c.G377A:p.R126H,CCDC113:NM_014157:exon4:c.G539A:p.R180H	.	429	1092	1	0	0	1	0.000457666	.	.	.	2761267	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.0116404497086	.	.	8.253e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs773212288	8.213e-06	8.209e-06	5.448e-06	1.101e-05	0.0003	4.38e-06	3.46e-06	6.096e-05	2.522e-05	5.983e-05	0	0	0	0	0.0003	4.498e-06	0	3.48e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	4.828e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	1.47e-05	0	0	0.206	0.19927	T	0.046	0.70582	D	0.162	0.28404	B	0.037	0.23121	B	0.020112	0.27110	N	0.352176	0.871823	0.35578	D	1.385	0.34509	L	1.33	0.35590	T	-3.37	0.70553	D	0.284	0.36884	-1.0282	0.21038	T	0.073	0.29707	T	10	0.20931819	0.37290	T	0.01164	0.29466	T	0.039	0.10176	0.404	0.43573	0.491592572028	0.48794	0.1862138284156097	0.18539	0.0953066022556	0.10761	0.295220166445	0.09691	T	0.21319	0.57443	T	-0.274086	0.11305	T	-0.530852	0.19202	T	0.280358403921127	0.24187	T	0.771723	0.41194	T	0.095378466	0.22446	0.095523015	0.22659	0.095378466	0.22446	0.095523015	0.22658	-4.523	0.31665	T	.	.	0.093	0.13923	B	.;.;.	.;.;.	2.412272	0.31007	18.61	0.98526957508584534	0.42545	0.56520	0.30138	D	AEFDIJ	0.120571	0.23481	N	-0.269563119008492	0.30330	1.690144	-0.20214169331255	0.31459	1.78059	0.974855442548672	0.29580	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.18	1.98	0.25351	0.682000	0.25015	1.668000	0.27939	0.662000	0.56354	0.769000	0.29345	0.945000	0.28875	0.501000	0.29039	0.1516:0.0:0.7072:0.1411	6.939	0.23662	778	0.48011	.;Domain of unknown function DUF4201;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1003.43	33	chr16	58258516	.	G	A	1003.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.073;DP=423;ExcessHet=0;FS=2.517;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=0.287;SOR=0.562	GT:AD:DP:GQ:PL	0/1:58,47:105:99:1015,0,1280	9	0	1	0
chr16	58532364	58532364	T	G	exonic	CNOT1	.	nonsynonymous SNV	CNOT1:NM_001265612:exon41:c.A5912C:p.Q1971P,CNOT1:NM_016284:exon41:c.A5927C:p.Q1976P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.0628294125046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.53172	D	0.074	0.92824	T	0.965	0.66517	D	0.658	0.63802	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	0.83	0.47815	T	-4.25	0.81350	D	0.821	0.81658	-0.5537	0.66646	T	0.281	0.65329	T	10	0.77904785	0.77700	D	0.062829	0.68777	D	0.561	0.82003	0.463	0.53242	0.701341541439	0.69875	0.9228311164676151	0.92260	2.39238286163	0.97114	0.854554057121	0.90299	D	0.332638	0.70258	T	0.283873	0.81645	D	0.169988	0.81408	D	0.986560583114624	0.77251	D	0.888711	0.75239	D	0.83845794	0.86498	0.6563706	0.79879	0.83845794	0.86500	0.6563706	0.79880	-10.235	0.75306	D	.	.	0.983	0.91705	P	.;.;.	.;.;.	4.822036	0.78552	26.9	0.99494236601063046	0.67630	0.99061	0.90654	D	AEFBI	0.966500	0.98893	D	0.737209858179473	0.82072	7.672631	0.749373155473654	0.86109	8.785687	0.999999999933101	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	8.017000	0.88732	7.932000	0.75071	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	16.235	0.82193	774	0.48577	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	53.49	33	chr16	58532364	.	T	G	53.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.051;DP=439;ExcessHet=0;FS=78.099;InbreedingCoeff=-0.0577;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=3.13;SOR=6.517	GT:AD:DP:GQ:PL	0/1:49,19:68:65:65,0,877	9	0	1	0
chr16	67189045	67189045	G	T	exonic	EXOC3L1	.	nonsynonymous SNV	EXOC3L1:NM_178516:exon3:c.C182A:p.T61N	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00436589825423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.415	0.27080	T	0.36	0.38891	T	0.002	0.17086	B	0.002	0.19966	B	0.000494	0.43931	N	0.232813	0.809768	0.34624	D	1.365	0.34158	L	3.15	0.17923	T	0.58	0.02598	N	0.239	0.26957	-1.0334	0.19363	T	0.025	0.10464	T	10	0.14762154	0.27968	T	0.004366	0.10624	T	0.023	0.04649	0.283	0.23961	0.378674557249	0.37480	0.2518616028663362	0.25100	0.0543356685128	0.06005	0.402533233166	0.25422	T	0.002754	0.02146	T	-0.234686	0.16033	T	-0.574886	0.15004	T	0.384218245744705	0.28345	T	0.637636	0.37414	T	0.04451879	0.07129	0.056354422	0.10053	0.04451879	0.07129	0.056354422	0.10052	-4.308	0.28288	T	.	.	0.082	0.37802	B	.;.;.;.	.;.;.;.	1.993882	0.25335	16.72	0.95860447724277309	0.28019	0.84657	0.43742	D	AEFDBI	0.447129	0.50290	N	-0.294217663358033	0.29371	1.628171	-0.126217422228936	0.34337	1.973981	0.999865252381124	0.44398	0.554377	0.28877	0	0.59043	0.45803	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	5.4	3.01	0.33872	3.642000	0.54101	6.180000	0.54618	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0916:0.0:0.4887:0.4197	6.781	0.22829	41	0.97903	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1207.43	34	chr16	67189045	.	G	T	1207.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.449;DP=416;ExcessHet=0;FS=1.728;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.825;SOR=0.946	GT:AD:DP:GQ:PL	0/1:44,48:92:99:1219,0,1060	9	0	1	0
chr16	67371039	67371039	C	T	exonic	LRRC36	.	nonsynonymous SNV	LRRC36:NM_001161575:exon6:c.C928T:p.H310Y,LRRC36:NM_018296:exon9:c.C1291T:p.H431Y	.	426	1086	10	0	0	10	0.00458295	.	.	.	2340424	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.0164827360088	0.0002	.	0.0002	0	0.0003	0	0	0.0001	0	0.0004	0.0001358	21	154602	rs144677421	8.961e-05	8.961e-05	7.759e-05	0.0001	0.0017	7.689e-05	7.233e-05	0.0009	0.0007	0	6.708e-05	0	0	0	0.0017	7.644e-05	0.0002	0.0003	5.257e-05	5.253e-05	3.854e-05	6.727e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	0	0	6.547e-05	0	0	0	0	0.0001	0	0	0.054	0.38633	T	0.276	0.21947	T	0.701	0.42542	P	0.346	0.42645	B	0.314166	0.14381	N	0.664720	1	0.81001	D	1.495	0.37439	L	3.04	0.35219	T	-1.33	0.42001	N	0.261	0.29544	-1.0155	0.25175	T	0.130	0.44069	T	10	0.098309815	0.17765	T	0.016483	0.37757	T	0.044	0.11924	.	.	0.392547445146	0.38869	0.3168248054228571	0.31595	0.714737894596	0.61901	0.353140413761	0.18383	T	0.002083	0.01490	T	-0.433154	0.01419	T	-0.549453	0.17379	T	0.0497184954583645	0.05451	T	0.745225	0.36553	T	0.082607225	0.19039	0.12017253	0.29003	0.082607225	0.19039	0.12017253	0.29002	-3.537	0.16954	T	.	.	0.086	0.16010	B	.;.;.	.;.;.	1.749504	0.22256	15.55	0.99246372967254626	0.56727	0.46133	0.27692	N	AEFDGBI	0.276327	0.39109	N	-0.133271744339978	0.35950	2.071479	-0.173835287811809	0.32501	1.849785	0.841179583590284	0.24870	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.7	3.73	0.41982	2.710000	0.46837	2.701000	0.34161	0.587000	0.30956	0.532000	0.27205	0.119000	0.22882	0.204000	0.22012	0.0:0.7495:0.1638:0.0867	7.774	0.28191	22	0.98466	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002924	0.000000	0.017241	0.000000	0.003788	0.05	1548.43	33	chr16	67371039	.	C	T	1548.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.108;DP=447;ExcessHet=0;FS=1.408;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.214;SOR=0.567	GT:AD:DP:GQ:PL	0/1:67,64:131:99:1560,0,1626	9	0	1	0
chr16	68828281	68828281	G	C	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon13:c.G2089C:p.E697Q,CDH1:NM_001317186:exon13:c.G307C:p.E103Q,CDH1:NM_001317185:exon14:c.G724C:p.E242Q,CDH1:NM_004360:exon14:c.G2272C:p.E758Q	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.716	0.089440474657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.113e-06	0.0001	2.729e-06	5.511e-06	5.41e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.41e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.51248	D	0.062	0.49390	T	1.0	0.90584	D	1.0	0.97372	D	0.000363	0.45194	D	0.000000	0.999999	0.58761	D	2.535	0.73915	M	-1.59	0.82076	D	-2.77	0.58733	D	0.553	0.57860	0.600	0.91895	D	0.727	0.90658	D	10	0.50837284	0.61952	D	0.08944	0.75327	D	0.716	0.89922	0.667	0.80502	0.955453839657	0.95498	0.8589841526515866	0.85861	0.901354855463	0.70653	0.710164666176	0.68617	T	0.596272	0.86994	D	0.110966	0.65452	D	-0.0783812	0.65023	T	0.980278690940645	0.73272	D	0.941806	0.85685	D	0.69648063	0.77865	0.47090107	0.69321	0.69648063	0.77866	0.47090107	0.69321	-9.267	0.72188	D	0.4347497002971249	0.52129	0.957	0.87731	P	.;.;.	.;.;.	5.187613	0.86995	29.1	0.99831881498280306	0.91370	0.95925	0.66748	D	AEFBCI	0.959031	0.97914	D	0.770012994540675	0.84199	8.222184	0.709284939559444	0.83082	7.929737	0.999387407795527	0.39415	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.35	4.37	0.51830	7.887000	0.85804	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1371:0.8629:0.0	15.754	0.77777	356	0.85138	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	66.61	151	chr16	68828281	.	G	C	66.61	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.294;DP=1213;ExcessHet=0.7463;FS=192.644;InbreedingCoeff=-0.3149;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=0.39;SOR=9.419	GT:AD:DP:GQ:PL	0/1:89,15:104:6:6,0,1763	3	0	3	4
chr16	72788513	72788513	G	C	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon9:c.C7021G:p.P2341A,ZFHX3:NM_006885:exon10:c.C9763G:p.P3255A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0068280426948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.40832	T	0.382	0.16376	T	0.0	0.02946	B	0.001	0.04355	B	0.103879	0.19728	N	0.420336	0.778757	0.34240	D	1.3	0.32576	L	-0.7	0.72785	T	-0.81	0.30762	N	0.232	0.30800	-0.8933	0.48641	T	0.155	0.48636	T	10	0.123785615	0.23502	T	0.006828	0.18065	T	0.091	0.26358	0.182	0.09004	0.0934897674506	0.08844	0.06639924603035471	0.06577	0.0904232306126	0.10200	0.470420747995	0.34737	T	0.076815	0.35509	T	-0.0920932	0.37731	T	-0.370062	0.36882	T	0.146348878741264	0.16809	T	0.513049	0.16451	T	0.020328274	0.00587	0.035524882	0.02821	0.020328274	0.00587	0.035524882	0.02820	-3.468	0.15987	T	.	.	0.052	0.00211	B	.;.;.	.;.;.	2.660656	0.34663	19.69	0.80084784715716084	0.13037	0.87755	0.47403	D	AEFDBCI	.	.	.	-0.497194603315797	0.22173	1.182062	-0.368493035987441	0.25941	1.429812	0.999987808330339	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.673471	0.61138	0	0.662433	0.64102	0	.	.	5.79	1.13	0.19758	4.616000	0.60900	3.587000	0.39177	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1963:0.115:0.6887:0.0	9.274	0.36853	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	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2561.43	41	chr16	72788513	.	G	C	2561.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.183;DP=576;ExcessHet=0;FS=1.031;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.344;SOR=0.623	GT:AD:DP:GQ:PL	0/1:119,103:224:99:2573,0,3274	9	0	1	0
chr16	72950840	72950840	C	T	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon2:c.G103A:p.V35I,ZFHX3:NM_006885:exon3:c.G2845A:p.V949I	.	409	1110	3	0	0	3	0.00134953	.	.	.	3202075	ZFHX3-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.186	.	0.0050	0.00658946	0.0018	0.0148	0.0019	0	0	0.0005	0.0033	0.0002	0.0019146	296	154602	rs113497421	0.0010	0.0010	0.0010	0.0010	0.0195	0.0009	0.0009	0.0182	0.0177	0.0195	0.0020	0.0020	2.519e-05	1.875e-05	0.0071	0.0004	0.0027	0.0002	0.0046	0.0046	0.0048	0.0045	0.0152	0.0043	0.0042	0.0142	0.0138	0.0152	0	0.0022	0.0014	0	9.414e-05	0	0.0003	0.0047	0	0.17	0.23541	T	0.171	0.60972	T	0.999	0.77913	D	0.965	0.71173	D	0.000397	0.44960	D	0.000000	1	0.81001	D	2.42	0.70002	M	0.6	0.53731	T	-0.8	0.22078	N	0.574	0.61764	-0.7721	0.56742	T	0.126	0.43070	T	10	0.014494151	0.00305	T	.	.	.	0.186	0.46104	.	.	0.24933006939	0.24537	0.183498676176686	0.18268	0.436305948269	0.43728	0.756401062012	0.75394	T	0.117048	0.43684	T	-0.400998	0.02281	T	-0.335808	0.40819	T	0.0217651673904808	0.00882	T	0.950905	0.81262	D	0.17299196	0.38021	0.10635385	0.25583	0.19171603	0.40811	0.118381396	0.28576	-3.456	0.32260	T	.	.	0.182	0.39579	B	.;.;.	.;.;.	5.091243	0.85017	28.5	0.99693032702473106	0.80044	0.98327	0.81666	D	AEFDBI	0.879431	0.80536	D	0.691536033292867	0.79079	7.002387	0.690029677203641	0.81620	7.569783	0.999999999999995	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.08	5.08	0.68373	7.854000	0.85267	6.030000	0.52909	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.487	0.90780	681	0.59854	.;.;.	.	.	.	.	.	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	0.015106	0.020202	0.028533	0.014620	0.000000	0.017241	0.000000	0.003788	0.05	1547.43	33	chr16	72950840	.	C	T	1547.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.61;DP=487;ExcessHet=0;FS=6.471;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-1;SOR=1.262	GT:AD:DP:GQ:PL	0/1:85,61:146:99:1559,0,2049	9	0	1	0
chr16	74888296	74888296	C	T	exonic	WDR59	.	nonsynonymous SNV	WDR59:NM_030581:exon22:c.G2219A:p.R740Q	.	433	1073	16	0	0	16	0.00740056	.	.	.	3356294	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.153	0.0127899907899	.	.	0.0002	0	0	0	0	6.338e-05	0	0.0011	0.0001488	23	154602	rs767371477	0.0001	0.0001	8.306e-05	0.0001	0.0021	0.0001	9.636e-05	0.0012	0.0010	2.989e-05	4.483e-05	7.653e-05	2.52e-05	0	0.0021	2.968e-05	0.0002	0.0013	3.947e-05	3.941e-05	3.858e-05	4.04e-05	0.0004	1.717e-05	1.13e-05	7.307e-05	3.035e-05	2.416e-05	0	0.0002	0	0	0	0	0	0	0.0004	0.399	0.10517	T	0.307	0.19908	T	0.355	0.33731	B	0.04	0.23831	B	0.000048	0.53742	D	0.164396	0.653184	0.32983	D	0.55	0.14455	N	-0.27	0.67367	T	-0.3	0.11913	N	0.301	0.34012	-0.8564	0.51520	T	0.115	0.40897	T	10	0.059230745	0.07087	T	0.01279	0.31668	T	0.153	0.40148	0.446	0.50466	0.845841685244	0.84436	0.1801451814062501	0.17933	0.277714302486	0.30255	0.478825569153	0.35895	T	0.022535	0.17359	T	-0.372965	0.03447	T	-0.349048	0.39314	T	0.080439621564902	0.10044	T	0.957904	0.84151	D	0.038109887	0.05015	0.034834333	0.02622	0.038109887	0.05015	0.034834333	0.02621	-3.125	0.11586	T	.	.	0.091	0.12985	B	.	.	3.968162	0.58246	24.0	0.99493450116431026	0.67573	0.92662	0.56241	D	AEFDBI	0.404737	0.47790	N	0.0823313918181039	0.45639	2.817132	0.279454450133582	0.54340	3.599407	0.999999999233427	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	4.474000	0.59936	6.003000	0.52520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.741000	0.35472	0.0:0.8146:0.0:0.1854	7.915	0.28977	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	668.43	38	chr16	74888296	.	C	T	668.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.318;DP=386;ExcessHet=0;FS=4.278;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.815;SOR=1.382	GT:AD:DP:GQ:PL	0/1:19,27:46:99:680,0,417	9	0	1	0
chr16	77212194	77212194	-	G	exonic	SYCE1L	.	frameshift insertion	SYCE1L:NM_001348924:exon6:c.366dupG:p.E123Gfs*21,SYCE1L:NM_001129979:exon8:c.489dupG:p.E164Gfs*21	.	401	1096	24	1	0	26	0.0117223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045	0.00179712	0.0097	0.0008	0	0	0	0.0119	0.0065	0.0109	0.0003074	8	26028	rs371551639	0.0027	0.0026	0.0025	0.0029	0.0087	0.0027	0.0026	0.0069	0.0067	0.0004	0.0014	0.0300	0	0.0002	0.0087	0.0020	0.0038	0.0073	0.0024	0.0024	0.0024	0.0025	0.0064	0.0022	0.0022	0.0047	0.0041	0.0003	0	0.0015	0.0369	0	0.0002	0.0034	0.0024	0.0033	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004474	0.013514	0.000000	0.008333	0.000000	0.000000	0.000000	0.000000	0.05	308.39	34	chr16	77212194	.	C	CG	308.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.449;DP=347;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=-0.017;SOR=0.551	GT:AD:DP:GQ:PL	0/1:24,12:36:99:320,0,721	9	0	1	0
chr16	77816980	77816980	C	T	exonic	VAT1L	.	nonsynonymous SNV	VAT1L:NM_020927:exon2:c.C293T:p.T98I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0273777614727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.08787	T	0.469	0.12281	T	0.884	0.48618	P	0.549	0.49194	P	0.000000	0.84330	D	0.046922	1	0.81001	D	0.945	0.23706	L	1.01	0.41058	T	-2.06	0.47175	N	0.63	0.64393	-1.0795	0.07446	T	0.096	0.36185	T	10	0.53202933	0.63238	D	0.027378	0.50196	D	0.203	0.48915	0.463	0.53242	0.508696012846	0.50510	0.673707980201549	0.67308	0.262508907343	0.28810	0.855479001999	0.90438	D	0.05871	0.30917	T	-0.0716425	0.41064	T	-0.340686	0.40267	T	0.663972139363623	0.39070	D	0.957604	0.84033	D	0.42025366	0.62108	0.2996911	0.56003	0.42025366	0.62109	0.2996911	0.56002	-8.089	0.61676	D	.	.	0.306	0.53464	B	.	.	4.287191	0.65350	24.8	0.99521345835982744	0.69284	0.97918	0.78116	D	AEFGBIJ	0.891613	0.82774	D	0.346516484482016	0.58556	4.028545	0.467023106678538	0.65816	4.87202	0.999999999999409	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.616125	0.45549	0	.	.	5.63	5.63	0.86108	7.568000	0.81546	7.623000	0.62394	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.287	0.94069	937	0.14592	Alcohol dehydrogenase, N-terminal|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	.	.	.	.	.	.	.	.	0.1	99.14	34	chr16	77816980	.	C	T	99.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.193;DP=524;ExcessHet=0.2348;FS=206.329;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=-0.514;SOR=8.254	GT:AD:DP:GQ:PL	0/1:51,16:67:40:40,0,900	8	0	2	0
chr16	79599341	79599341	-	GTG	exonic	MAF	.	nonframeshift insertion	MAF:NM_001031804:exon1:c.561_562insCAC:p.H187_A188insH,MAF:NM_005360:exon1:c.561_562insCAC:p.H187_A188insH	Ayme-Gripp syndrome, Autosomal dominant;Cataract 21, multiple types, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1029898670	0.0001	0.0001	0.0001	0.0001	0.0020	0.0001	0.0001	0.0015	0.0013	0	0	0	0.0003	0	0.0006	9.257e-05	0.0002	0.0020	0.0002	0.0002	0.0002	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	0.0001	0	0.0002	0	0.0006	0	0	0.0001	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	154.35	4	chr16	79599341	.	C	CGTG	154.35	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0;DP=57;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=30.87;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/1:1,4:5:30:165,0,30	8	0	1	1
chr16	84177797	84177797	C	G	exonic	DNAAF1	.	nonsynonymous SNV	DNAAF1:NM_001318756:exon8:c.C1426G:p.P476A,DNAAF1:NM_178452:exon12:c.C2134G:p.P712A	Ciliary dyskinesia, primary, 13, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	242528	Primary_ciliary_dyskinesia_13|Primary_ciliary_dyskinesia|not_provided|not_specified	MONDO:MONDO:0013174,MedGen:C2750790,OMIM:613193,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.051	.	0.0072	0.00499201	0.0020	0.0212	0.0008	0	0	0.0002	0.0011	0.0001	0.0019146	296	154602	rs4150187	0.0009	0.0009	0.0009	0.0008	0.0228	0.0008	0.0008	0.0215	0.0209	0.0228	0.0017	0	0	0	0.0033	0.0003	0.0021	0.0002	0.0060	0.0060	0.0064	0.0056	0.0204	0.0057	0.0055	0.0193	0.0188	0.0204	0	0.0020	0	0	0	0	0.0002	0.0062	0.0008	0.376	0.91255	T	0.939	0.29346	T	0.397	0.34783	B	0.133	0.33073	B	0.028768	0.01691	U	2.970030	1	0.08975	N	0	0.06538	N	1.63	0.28002	T	-0.22	0.24898	N	0.118	0.10769	-1.0365	0.18388	T	0.021	0.09101	T	10	0.0030957162	0.00051	T	.	.	.	0.051	0.14325	.	.	0.17258766438	0.16869	0.033735054606145246	0.03321	0.0204523279217	0.02011	0.230686500669	0.02019	T	0.002197	0.01594	T	-0.592893	0.00161	T	-0.607507	0.12188	T	0.0205549900992384	0.00755	T	0.423358	0.11306	T	0.020068951	0.00553	0.03521981	0.02732	0.023349721	0.01066	0.03861157	0.03767	-4.024	0.24162	T	.	.	0.069	0.06525	B	.;.	.;.	-1.130023	0.00606	0.016	0.42786608252730857	0.03177	0.04473	0.10084	N	ALL	0.064549	0.12540	N	-0.877350977835202	0.11382	0.5490183	-0.966171284112057	0.10550	0.5320765	0.999999999989802	0.74766	0.405899	0.06291	1	0.379588	0.06130	0	0.486962	0.07600	0	0.349732	0.05809	1	.	.	3.15	2.18	0.26813	-1.248000	0.03001	0.094000	0.14556	-0.972000	0.01937	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7608:0.2392:0.0	8.450	0.32026	730	0.54327	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.005051	0.006793	0.008772	0.000000	0.000000	0.000000	0.003788	0.05	2114.43	36	chr16	84177797	.	C	G	2114.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.272;DP=543;ExcessHet=0;FS=0.527;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.037;SOR=0.769	GT:AD:DP:GQ:PL	0/1:106,89:195:99:2126,0,2681	9	0	1	0
chr16	85078427	85078427	C	A	exonic	KIAA0513	.	nonsynonymous SNV	KIAA0513:NM_001286565:exon7:c.C795A:p.N265K,KIAA0513:NM_001286566:exon7:c.C795A:p.N265K,KIAA0513:NM_001297766:exon7:c.C795A:p.N265K,KIAA0513:NM_014732:exon7:c.C795A:p.N265K	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0102983413455	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380386609	1.368e-06	1.368e-06	0	2.751e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.50676	T	0.196	0.43344	T	0.02	0.18235	B	0.014	0.16862	B	0.314654	0.14373	N	0.727501	0.990251	0.24194	N	1.935	0.51832	L	1.32	0.42122	T	-0.56	0.30555	N	0.183	0.19995	-1.0400	0.17313	T	0.055	0.23262	T	10	0.05442688	0.05792	T	0.010298	0.26676	T	0.023	0.04649	0.291	0.25241	0.193865811164	0.18958	0.1469418264407332	0.14616	0.0994085722426	0.11232	0.312245488167	0.12246	T	0.007364	0.13127	T	-0.363605	0.03930	T	-0.65944	0.08304	T	0.0553143931906121	0.06410	T	0.831017	0.49766	T	0.123944305	0.29092	0.07677359	0.17037	0.123944305	0.29092	0.07677359	0.17036	-2.426	0.14378	T	.	.	0.093	0.17827	B	.;.;.;.;.;.	.;.;.;.;.;.	1.218431	0.16123	12.33	0.97752318340815747	0.35751	0.32233	0.24535	N	AEFDBI	0.080458	0.16267	N	-0.753994327467781	0.14525	0.7242553	-0.700218520227811	0.16955	0.8993495	0.990658204649311	0.32225	0.615465	0.37627	0	0.633656	0.55848	0	0.687403	0.62504	0	0.655142	0.61905	0	.	.	4.97	2.97	0.33479	0.456000	0.21572	1.359000	0.25866	0.599000	0.40250	0.008000	0.17931	0.798000	0.26924	0.031000	0.13245	0.0:0.8205:0.0:0.1795	9.545	0.38438	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	.	.	.	.	.	.	.	.	0.05	690.43	50	chr16	85078427	.	C	A	690.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.044;DP=536;ExcessHet=0;FS=2.105;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=1.08;SOR=0.399	GT:AD:DP:GQ:PL	0/1:32,32:64:99:702,0,691	9	0	1	0
chr16	85903034	85903034	G	A	exonic	IRF8	.	nonsynonymous SNV	IRF8:NM_001363907:exon2:c.G49A:p.G17S,IRF8:NM_002163:exon2:c.G19A:p.G7S	Immunodeficiency 32A, mycobacteriosis, autosomal dominant, Autosomal dominant;Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1462570	Mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_IRF8_deficiency|Immunodeficiency_32B	MONDO:MONDO:0013957,MedGen:C3808589,OMIM:614893,Orphanet:319600|MONDO:MONDO:0009194,MedGen:C4751209,OMIM:226990,Orphanet:2566	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.639	0.183723672348	.	0.000199681	0.0001	0	0	0.0020	0	0	0	0	0.0001164	18	154602	rs201464467	6.02e-05	6.02e-05	6.126e-05	5.913e-05	0.0021	4.961e-05	4.627e-05	0.0017	0.0016	0	0	0	0.0021	0	0.0002	1.799e-06	3.312e-05	0	2.625e-05	2.625e-05	5.138e-05	0	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	0.078	0.34621	T	0.134	0.34241	T	0.609	0.39586	P	0.254	0.39164	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.75	0.45442	L	-4.54	0.97732	D	-0.44	0.18459	N	0.505	0.56145	0.988	0.96996	D	0.924	0.97490	D	10	0.0772455	0.12167	T	0.183724	0.85703	D	0.639	0.86232	0.338	0.32816	0.784665308955	0.78267	0.6024250295932645	0.60173	1.4946576136	0.86936	0.715586185455	0.69404	T	0.259209	0.63046	T	0.0368291	0.56627	T	0.250047	0.85622	D	0.190966328843199	0.19901	T	0.90371	0.66210	D	0.22642437	0.45323	0.38824493	0.63673	0.22642437	0.45323	0.38824493	0.63673	-3.607	0.17958	T	0.29099563831780634	0.38755	0.446	0.62078	A	.;.;.;.;.	.;.;.;.;.	4.683756	0.74978	26.3	0.99828449800332686	0.91026	0.96637	0.70145	D	AEFGBHCI	0.963333	0.98520	D	0.363953489014334	0.59479	4.127785	0.400641631653398	0.61604	4.362957	1.0	0.98316	0.446893	0.09132	0	0.52208	0.09955	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.58	5.58	0.84361	6.404000	0.73190	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.271000	0.23793	0.0:0.0:1.0:0.0	17.756	0.88357	970	0.06235	Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain;Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain;Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain;Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain;Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-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	.	.	.	.	.	.	.	.	0.05	707.43	34	chr16	85903034	.	G	A	707.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.069;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.024;SOR=0.712	GT:AD:DP:GQ:PL	0/1:27,30:57:99:719,0,617	9	0	1	0
chr16	88432319	88432319	C	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.C4849T:p.P1617S	Brittle cornea syndrome 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	344340	not_provided|Cardiovascular_phenotype|Brittle_cornea_syndrome_1|ZNF469-related_disorder	MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.007	0.413174753535	.	0.000399361	0.0006	0	0	0	0	0	0	0.0012	7.76e-05	12	154602	rs557351664	0.0001	0.0001	5.657e-05	0.0002	0.0014	9.41e-05	8.869e-05	0.0012	0.0011	0	0	0	2.798e-05	0	0.0011	2.595e-05	0.0001	0.0014	8.534e-05	8.53e-05	6.424e-05	0.0001	0.0014	4.953e-05	3.959e-05	0.0007	0.0005	2.405e-05	0	0	0	0	0	0	5.879e-05	0.0005	0.0014	0.171	0.22746	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.37	0.05847	T	-1.43	0.35194	N	0.072	0.04547	-0.9214	0.45362	T	0.010	0.03492	T	9	0.019594729	0.00440	T	0.413175	0.93641	D	0.007	0.00512	0.257	0.19845	0.16115917748	0.15686	0.13371102965942055	0.13295	.	.	0.227654546499	0.01799	T	0.011068	0.09921	T	-0.60726	0.00132	T	-0.685597	0.06647	T	0.0281935885798024	0.01716	T	0.526147	0.17328	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.23744	B	.;.	.;.	-0.631801	0.01487	0.093	0.89308696089830986	0.18686	0.09272	0.15061	N	AEFDBI	0.073729	0.14755	N	-1.22770479027339	0.04602	0.2080409	-1.27271209748788	0.04803	0.2274343	0.129737375171041	0.17066	0.646311	0.45356	0	0.588066	0.40923	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.17	0.884	0.18317	-1.425000	0.02552	-2.451000	0.03738	-0.316000	0.05924	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1803:0.541:0.1752:0.1035	3.021	0.05707	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2230.43	85	chr16	88432319	.	C	T	2230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.276;DP=913;ExcessHet=0;FS=2.592;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.257;SOR=0.905	GT:AD:DP:GQ:PL	0/1:88,91:179:99:2242,0,2265	9	0	1	0
chr16	88723301	88723301	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon32:c.G4363A:p.A1455T	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	382	1133	7	0	0	7	0.00307963	.	.	.	703890	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.066	.	.	0.00119808	0.0024	0	0	0	0.0122	0.0036	0.0062	0.0018	0.0004657	72	154602	rs191656121	0.0015	0.0014	0.0014	0.0016	0.0053	0.0014	0.0014	0.0038	0.0033	0.0001	0.0006	0.0002	0.0006	0.0016	0.0053	0.0016	0.0012	0.0014	0.0016	0.0016	0.0017	0.0015	0.0028	0.0014	0.0014	0.0025	0.0023	0.0001	0	0.0007	0	0.0012	0.0010	0.0068	0.0028	0.0024	0.0025	0.485	0.08115	T	0.038	0.51421	D	0.343	0.33512	B	0.035	0.22741	B	0.000890	0.41231	D	0.200054	0.930638	0.36964	D	1.785	0.46417	L	-0.71	0.72889	T	-1.15	0.29525	N	0.223	0.25006	-0.8457	0.52263	T	0.206	0.56431	T	10	0.004822403	0.00102	T	.	.	.	0.081	0.23632	.	.	0.134007934775	0.12933	0.1714602444143789	0.17066	.	.	0.516444385052	0.41126	T	0.072419	0.34450	T	-0.423406	0.01628	T	-0.383075	0.35361	T	0.0125514325208221	0.00208	T	0.825517	0.48813	T	0.084059775	0.19440	0.09396206	0.22219	0.084059775	0.19439	0.09396206	0.22219	-5.355	0.40484	T	0.10148391091314822	0.07607	0.089	0.12323	B	.	.	3.390508	0.46937	22.4	0.99882234198270403	0.95813	0.76538	0.37545	D	AEFDBCI	0.268612	0.38506	N	0.10048653159397	0.46485	2.88814	0.130408842044348	0.46112	2.862587	0.988704923019811	0.31601	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.1	4.09	0.47038	0.636000	0.24333	3.957000	0.40718	0.599000	0.40250	0.138000	0.23473	0.999000	0.35428	0.977000	0.56843	0.0:0.7677:0.1478:0.0845	9.444	0.37852	873	0.30802	Piezo domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005917	0.000000	0.012195	0.007143	0.000000	0.000000	0.000000	0.011628	0.05	771.43	42	chr16	88723301	.	C	T	771.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.835;DP=416;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.402;SOR=0.591	GT:AD:DP:GQ:PL	0/1:30,35:65:99:783,0,658	9	0	1	0
chr16	88736210	88736210	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon12:c.G1495A:p.V499I	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	426	1085	9	2	0	13	0.00595511	.	.	.	1196174	not_provided|Inborn_genetic_diseases|PIEZO1-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.113	0.177545364407	.	0.000399361	0.0005	0	0.0029	0	0	0.0007	0	0.0004	0.000207	32	154602	rs530486445	0.0009	0.0009	0.0010	0.0009	0.0079	0.0009	0.0009	0.0060	0.0054	0.0004	0.0007	0.0014	5.597e-05	0.0001	0.0079	0.0010	0.0008	0.0005	0.0007	0.0007	0.0006	0.0008	0.0012	0.0006	0.0005	0.0008	0.0008	0.0001	0	0.0012	0.0014	0	0	0.0068	0.0010	0	0.0006	0.799	0.03125	T	0.351	0.17425	T	0.014	0.16867	B	0.005	0.11217	B	0.000024	0.55875	D	0.065276	0.699722	0.30114	N	0.63	0.15941	N	-1.82	0.84047	D	0.15	0.05310	N	0.109	0.09490	-0.7264	0.59145	T	0.340	0.70608	T	10	0.010295153	0.00230	T	0.177545	0.85296	D	0.285	0.60338	.	.	0.0675242888579	0.06100	0.08238491071398324	0.08173	.	.	0.566157817841	0.48135	T	0.00317	0.02576	T	-0.364518	0.03881	T	-0.356979	0.38403	T	0.0145007613998494	0.00295	T	0.742326	0.36163	T	0.013507873	0.00061	0.026395345	0.00727	0.013507873	0.00061	0.026395345	0.00727	-5.198	0.38921	T	.	.	0.081	0.08272	B	.	.	1.982115	0.25182	16.67	0.99570214088054965	0.72318	0.37958	0.25879	N	AEFBHCI	0.170467	0.29737	N	-0.334845440161081	0.27833	1.530253	-0.168228459271217	0.32714	1.863874	0.99998444847203	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.73	3.52	0.39415	0.534000	0.22807	0.199000	0.15831	-0.256000	0.07045	0.908000	0.31627	0.008000	0.19753	0.963000	0.52385	0.0:0.626:0.0:0.374	3.711	0.07949	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004310	0.000000	0.000000	0.016807	0.000000	0.000000	0.000000	0.000000	0.05	801.43	41	chr16	88736210	.	C	T	801.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.226;DP=449;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=1.17;SOR=0.616	GT:AD:DP:GQ:PL	0/1:52,35:87:99:813,0,1372	9	0	1	0
chr16	90075371	90075371	T	C	exonic	PRDM7	.	nonsynonymous SNV	PRDM7:NM_001098173:exon3:c.A173G:p.Y58C	.	414	1105	3	0	0	3	0.00135563	.	.	.	3377911	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.00128024451032	.	.	0.0002	0	0.0003	0	0	0.0002	0.0011	0.0004	0.0001746	27	154602	rs773645588	8.893e-05	8.893e-05	8.576e-05	9.213e-05	0.0007	7.622e-05	7.167e-05	0.0003	0.0003	0	0.0003	0.0015	0	0	0.0007	2.068e-05	0.0003	0.0004	8.532e-05	8.529e-05	7.707e-05	9.393e-05	0.0002	4.952e-05	3.958e-05	2.257e-05	9.06e-06	0	0	0.0001	0.0014	0	0	0.0068	4.41e-05	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.23450	N	2.39	0.68882	M	4.26	0.02538	T	-5.05	0.82700	D	0.758	0.75650	-1.0433	0.16324	T	0.024	0.10194	T	8	0.15138447	0.28614	T	0.00128	0.01759	T	0.206	0.49396	.	.	0.443695250439	0.43992	0.5313617407557042	0.53060	0.383998167161	0.39712	0.889398992062	0.95185	D	0.072015	0.34349	T	-0.211907	0.19111	T	-0.231648	0.51612	T	0.204785687884947	0.20677	T	0.762524	0.38803	T	0.4575625	0.64519	0.42012677	0.65985	0.4575625	0.64520	0.42012677	0.65985	-7.155	0.55157	T	.	.	0.181	0.43421	B	.;.	.;.	3.547533	0.49856	22.8	0.98624029944435421	0.43812	0.11819	0.16882	N	AEBI	0.050947	0.08953	N	-0.100443059371859	0.37373	2.173421	-0.340099652266596	0.26816	1.483755	0.17048313944599	0.17728	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	1.67	1.67	0.23149	1.477000	0.35039	-0.267000	0.10379	0.614000	0.49286	0.902000	0.31475	0.000000	0.08366	0.892000	0.42986	0.0:0.0:0.0:1.0	5.488	0.16051	814	0.42100	Krueppel-associated box|Krueppel-associated box-related|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box-related|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1898.43	37	chr16	90075371	.	T	C	1898.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.016;DP=547;ExcessHet=0;FS=1.759;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.99;MQRankSum=-1.114;QD=9.64;ReadPosRankSum=-0.782;SOR=0.826	GT:AD:DP:GQ:PL	0/1:110,87:197:99:1910,0,2556	9	0	1	0
chr17	532865	532865	T	C	exonic	VPS53	.	nonsynonymous SNV	VPS53:NM_018289:exon18:c.A1975G:p.I659V,VPS53:NM_001128159:exon19:c.A2062G:p.I688V,VPS53:NM_001366253:exon19:c.A2062G:p.I688V,VPS53:NM_001366254:exon20:c.A1468G:p.I490V	Pontocerebellar hypoplasia, type 2E, Autosomal recessive	433	1068	20	1	0	22	0.0101946	.	.	.	363728	Pontocerebellar_hypoplasia_type_2E|Microcephaly|not_provided	MONDO:MONDO:0014370,MedGen:C4014488,OMIM:615851,Orphanet:247198|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.036	.	0.0009	0.00519169	0.0035	0.0005	0.0030	0.0100	0	0.0014	0.0068	0.0124	0.0031824	492	154602	rs140376049	0.0018	0.0018	0.0016	0.0021	0.0108	0.0018	0.0018	0.0102	0.0100	0.0002	0.0029	0.0039	0.0050	0.0002	0.0104	0.0010	0.0026	0.0108	0.0018	0.0018	0.0016	0.0020	0.0137	0.0016	0.0016	0.0110	0.0101	0.0004	0	0.0033	0.0052	0.0068	9.423e-05	0.0102	0.0012	0.0024	0.0137	0.436	0.16683	T	0.525	0.14725	T	0.004	0.17989	B	0.011	0.22546	B	0.000005	0.62929	D	0.103872	0.999995	0.81001	D	1.025	0.25523	L	1.4	0.50459	T	-0.37	0.15178	N	0.344	0.43995	-1.0448	0.15884	T	0.099	0.36856	T	10	0.009616137	0.00217	T	.	.	.	0.036	0.09122	.	.	0.232513804876	0.22884	0.27455534500255907	0.27368	0.288955871697	0.31300	0.591659486294	0.51728	T	0.106667	0.41820	T	-0.465481	0.00908	T	-0.430376	0.29894	T	0.00606719036809914	0.00067	T	.	.	.	0.09081424	0.21262	0.14843798	0.35088	0.09562082	0.22507	0.14770514	0.34943	-6.417	0.49642	T	.	.	0.077	0.06803	B	.;.;.;.	.;.;.;.	2.567707	0.33263	19.29	0.98519920318753362	0.42447	0.96055	0.67329	D	AEFBI	0.580715	0.58101	D	-0.175878687463541	0.34142	1.945147	0.0143875825731752	0.40381	2.409062	0.99651892825105	0.34798	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	3.898000	0.55993	4.168000	0.42254	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.0:1.0	14.019	0.64063	630	0.65016	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.006743	0.005051	0.004076	0.003497	0.000000	0.017241	0.006135	0.007576	0.05	1144.43	36	chr17	532865	.	T	C	1144.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.742;DP=394;ExcessHet=0;FS=2.878;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.127;SOR=0.446	GT:AD:DP:GQ:PL	0/1:33,54:87:99:1156,0,679	9	0	1	0
chr17	4445094	4445094	C	T	exonic	SPNS3	.	nonsynonymous SNV	SPNS3:NM_182538:exon3:c.C328T:p.R110C	.	400	1086	35	1	0	37	0.0167497	.	.	.	2814732	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.607	.	0.0016	0.00179712	0.0024	0.0002	0.0006	0	0	0.0018	0.0022	0.0101	0.0021927	339	154602	rs146383415	0.0019	0.0019	0.0016	0.0022	0.0106	0.0018	0.0018	0.0100	0.0097	0.0002	0.0007	3.826e-05	2.519e-05	1.872e-05	0.0106	0.0015	0.0017	0.0105	0.0014	0.0014	0.0014	0.0014	0.0083	0.0013	0.0012	0.0063	0.0055	0.0003	0	0.0014	0	0.0002	0	0.0170	0.0019	0.0028	0.0083	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	3.295	0.90403	M	-0.27	0.67367	T	-7.83	0.96005	D	0.969	0.97961	0.198	0.85878	D	0.538	0.82945	D	10	0.070468366	0.10256	T	.	.	.	0.607	0.84559	.	.	0.570790795014	0.56744	0.835966378074442	0.83556	0.687635018432	0.60392	0.599764823914	0.52871	T	0.560963	0.85302	D	-0.00447933	0.51034	T	0.228751	0.84611	D	0.161984585976902	0.18017	T	0.936706	0.76258	D	0.8289964	0.85833	0.731659	0.84143	0.8289964	0.85834	0.731659	0.84144	-11.137	0.80403	D	.	.	0.417	0.60490	A	.	.	5.298360	0.88958	29.8	0.99921245889480892	0.98787	0.73539	0.35971	D	ALL	0.545952	0.56025	D	0.569891544201969	0.71299	5.63017	0.422482465245062	0.62970	4.521608	0.994452135849661	0.33644	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.631631	0.49550	0	.	.	4.51	4.51	0.54589	1.655000	0.36960	4.807000	0.45013	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.162000	0.20715	0.1911:0.8089:0.0:0.0	10.703	0.45134	716	0.55970	Major facilitator superfamily domain|Major facilitator superfamily 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	0.007553	0.005051	0.004076	0.000000	0.000000	0.008621	0.006098	0.030303	0.05	2033.43	33	chr17	4445094	.	C	T	2033.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=452;ExcessHet=0;FS=0.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.024;SOR=0.713	GT:AD:DP:GQ:PL	0/1:63,82:145:99:2045,0,1359	9	0	1	0
chr17	4898816	4898816	C	G	exonic	CHRNE	.	nonsynonymous SNV	CHRNE:NM_000080:exon12:c.G1402C:p.V468L	Myasthenic syndrome, congenital, 4A, slow-channel, Autosomal recessive, Autosomal dominant;Myasthenic syndrome, congenital, 4B, fast-channel, Autosomal recessive;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, Autosomal recessive	0	1438	80	4	0	88	0.0296896	.	.	.	134213	Congenital_myasthenic_syndrome_4B|Congenital_myasthenic_syndrome_4A|Congenital_myasthenic_syndrome_4C|Congenital_myasthenic_syndrome|not_specified|not_provided	MONDO:MONDO:0014586,MedGen:C4225369,OMIM:616324,Orphanet:590|MONDO:MONDO:0011600,MedGen:C4225413,OMIM:605809,Orphanet:590|MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.193	.	0.0049	0.00658946	0.0116	0.0024	0.0058	0	0.0009	0.0122	0.0085	0.0239	0.0070956	1097	154602	rs139171143	0.0082	0.0082	0.0077	0.0087	0.0202	0.0081	0.0080	0.0194	0.0191	0.0010	0.0042	0.0137	0	0.0009	0.0144	0.0081	0.0089	0.0202	0.0056	0.0056	0.0052	0.0059	0.0168	0.0053	0.0051	0.0138	0.0128	0.0011	0	0.0075	0.0147	0.0002	0.0006	0.0102	0.0078	0.0066	0.0168	0.439	0.09291	T	0.781	0.04316	T	0.006	0.13644	B	0.012	0.16012	B	0.124231	0.18888	N	0.544079	1	0.08975	N	-1.03	0.01126	N	-1.78	0.83737	D	0.04	0.06488	N	0.026	0.00527	-0.9563	0.39861	T	0.170	0.51149	T	10	0.0081155	0.00184	T	.	.	.	0.193	0.47281	0.524	0.62818	0.73970075848	0.73736	0.5108977494356424	0.51011	0.173132123751	0.19504	0.436431020498	0.30089	T	0.123991	0.44873	T	-0.44225	0.01254	T	-0.392443	0.34266	T	0.00471746528373489	0.00050	T	0.568443	0.20183	T	0.0839231	0.19401	0.05937821	0.11132	0.09259061	0.21725	0.05937821	0.11131	-4.574	0.31843	T	0.07255126532831871	0.02984	0.082	0.08705	B	.;.	.;.	1.464950	0.18879	13.97	0.944513145183004	0.24882	0.11588	0.16732	N	AEFDGBCI	0.135937	0.25643	N	-0.833096516067367	0.12471	0.6080328	-0.71362750297996	0.16621	0.8801673	0.999998109444355	0.74766	0.660377	0.49826	0	0.759151	0.99529	0	0.536957	0.11973	0	0.592323	0.36904	0	.	.	4.91	0.885	0.18323	-0.492000	0.06547	-0.945000	0.06834	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.2577:0.3665:0.3758:0.0	7.891	0.28840	296	0.88164	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.016633	0.000000	0.010899	0.008824	0.000000	0.000000	0.027439	0.045455	0.1	3393.14	34	chr17	4898816	.	C	G	3393.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.39;DP=664;ExcessHet=0.2348;FS=4.216;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=1.47;SOR=0.515	GT:AD:DP:GQ:PL	0/1:77,74:151:99:1719,0,1643	8	0	2	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	2999.71	129	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	2999.71	.	AC=12;AF=0.6;AN=20;BaseQRankSum=-2.686;DP=1317;ExcessHet=0.0952;FS=1.935;InbreedingCoeff=0.3407;MLEAC=12;MLEAF=0.6;MQ=59.44;MQRankSum=0.207;QD=3.86;ReadPosRankSum=-0.518;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,64:65:99:.:.:2298,182,0:.	3	5	2	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7222	1204.92	129	chr17	4933915	.	A	*	1204.92	.	AC=13;AF=0.722;AN=18;BaseQRankSum=-3.635;DP=1346;ExcessHet=1.8123;FS=4.609;InbreedingCoeff=-0.1556;MLEAC=14;MLEAF=0.778;MQ=59.67;MQRankSum=1.23;QD=1.34;ReadPosRankSum=-3.271;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,64:65:99:.:.:2298,182,0:.	1	5	3	1
chr17	6589815	6589815	G	A	exonic	KIAA0753	.	nonsynonymous SNV	KIAA0753:NM_001351225:exon18:c.C1853T:p.A618V,KIAA0753:NM_014804:exon18:c.C2750T:p.A917V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0145602795894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.28772	T	0.0	0.92824	D	0.979	0.59044	D	0.603	0.50895	P	0.000004	0.62929	D	0.104953	0.664484	0.30419	N	.	.	.	1.17	0.37910	T	-1.54	0.37375	N	0.538	0.56576	-0.8296	0.53327	T	0.119	0.41735	T	10	0.27429348	0.44982	T	0.01456	0.34757	T	0.135	0.36572	0.418	0.45873	0.396044805602	0.39223	0.28109843169124854	0.28022	0.436420371793	0.43731	0.497470617294	0.38475	T	0.034669	0.23413	T	0.0333114	0.56164	T	-0.189927	0.55596	T	0.949051916599274	0.63029	D	0.820918	0.51273	T	0.07941727	0.18141	0.109582745	0.26412	0.07941727	0.18141	0.109582745	0.26411	-6.993	0.53983	T	.	.	0.167	0.42332	B	.;.;.	.;.;.	4.654260	0.74218	26.1	0.99931835080865739	0.99387	0.88976	0.49173	D	AEFBI	0.258936	0.37738	N	0.527522944140358	0.68724	5.256619	0.545656182238579	0.71097	5.603	0.998914449077123	0.37962	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	2.876000	0.48197	9.707000	0.81321	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.868000	0.41282	0.0:0.0:0.8334:0.1666	12.526	0.55431	846	0.36215	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	1281.14	34	chr17	6589815	.	G	A	1281.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.992;DP=396;ExcessHet=0.2348;FS=3.416;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=1.27;SOR=0.424	GT:AD:DP:GQ:PL	0/1:30,24:54:99:498,0,720	8	0	2	0
chr17	7384513	7384513	C	A	exonic	TNK1	.	nonsynonymous SNV	TNK1:NM_001251902:exon7:c.C896A:p.A299D,TNK1:NM_003985:exon7:c.C896A:p.A299D	.	418	1062	39	3	0	45	0.0207469	.	.	.	3217119	TNK1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.354	.	0.0066	0.00299521	0.0114	0.0023	0.0117	0	0.0014	0.0156	0.0215	0.0078	0.005912	914	154602	rs61730812	0.0083	0.0083	0.0084	0.0082	0.0250	0.0082	0.0081	0.0216	0.0203	0.0016	0.0067	0.0095	0	0.0006	0.0250	0.0094	0.0100	0.0036	0.0058	0.0058	0.0066	0.0051	0.0092	0.0055	0.0054	0.0086	0.0084	0.0018	0	0.0065	0.0072	0	0.0004	0.0408	0.0092	0.0142	0.0037	.	.	.	0.216	0.30143	T	0.853	0.48338	P	0.529	0.52771	P	0.028213	0.25637	N	0.280839	0.967537	0.38600	D	0.445	0.12748	N	-1.65	0.82625	D	.	.	.	0.451	0.55019	-0.3939	0.72219	T	0.246	0.61542	T	10	0.0139044225	0.00294	T	.	.	.	.	.	.	.	0.919329187289	0.91851	0.49443603386165175	0.49364	0.812905501583	0.66818	0.624475359917	0.56361	T	0.160806	0.50480	T	-0.29015	0.09621	T	-0.18245	0.56297	T	0.0225062001981507	0.00965	T	.	.	.	0.3468623	0.56822	0.3383932	0.59617	0.3468623	0.56822	0.3383932	0.59617	-7.8	0.59699	D	.	.	0.187	0.44847	B	.;.	.;.	4.194530	0.63243	24.6	0.99758617379124681	0.84851	0.77145	0.37899	D	AEFDGBHCI	0.501372	0.53423	D	-0.0255679916352551	0.40700	2.421557	-0.00384026937174498	0.39541	2.346067	0.999999999639966	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	5.0	4.03	0.46115	2.279000	0.43094	3.265000	0.37119	0.599000	0.40250	0.073000	0.22155	0.996000	0.32793	0.997000	0.79791	0.0:0.9126:0.0:0.0874	11.511	0.49744	192	0.92531	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021277	0.025510	0.015027	0.032164	0.050000	0.034483	0.027607	0.000000	0.1	1039.14	35	chr17	7384513	.	C	A	1039.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.572;DP=381;ExcessHet=0.2348;FS=3.847;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.149;SOR=1.127	GT:AD:DP:GQ:PL	0/1:36,16:52:99:302,0,991	8	0	2	0
chr17	7719805	7719805	G	A	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_001303270:exon2:c.G71A:p.R24Q,DNAH2:NM_020877:exon2:c.G71A:p.R24Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0045725035546	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937116671	4.106e-06	4.104e-06	2.724e-06	5.503e-06	5.978e-05	1.48e-06	9.7e-07	9.9e-06	3.7e-06	5.978e-05	0	0	0	0	0	2.699e-06	1.657e-05	0	1.314e-05	1.313e-05	0	2.689e-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	0.323	0.13436	T	0.028	0.54934	D	0.016	0.24389	B	0.002	0.21540	B	0.000948	0.00714	N	7.592260	1	0.08975	N	0.205	0.09354	N	1.03	0.40469	T	-0.51	0.15986	N	0.132	0.12770	-1.0049	0.28487	T	0.062	0.25780	T	10	0.058633387	0.06923	T	0.004573	0.11283	T	0.025	0.05312	0.216	0.13643	0.141422826196	0.13715	0.19525342462904896	0.19442	0.212132360163	0.23708	0.304152160883	0.11023	T	0.013595	0.11729	T	-0.37777	0.03218	T	-0.597649	0.13010	T	0.0196152205864631	0.00664	T	0.590441	0.21717	T	0.03182752	0.03093	0.04287302	0.05207	0.03182752	0.03093	0.04287302	0.05206	-3.991	0.23669	T	.	.	0.090	0.12891	B	.;.;.	.;.;.	0.216518	0.05992	2.435	0.89427561080289486	0.18787	0.02052	0.06131	N	AEFDBI	0.036205	0.04786	N	-1.1979303155935	0.05031	0.2284312	-1.21056052424474	0.05739	0.2743197	0.00386312418723576	0.10312	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.33	0.092	0.13780	-0.223000	0.09182	-0.739000	0.07628	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4478:0.0:0.5522:0.0	6.145	0.19499	524	0.74079	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1446.14	34	chr17	7719805	.	G	A	1446.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.88;DP=411;ExcessHet=0.2348;FS=0.686;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=1.05;SOR=0.57	GT:AD:DP:GQ:PL	0/1:26,42:68:99:1002,0,530	8	0	2	0
chr17	7764236	7764236	C	T	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon20:c.C3299T:p.A1100V	.	420	1099	3	0	0	3	0.00136302	.	.	.	2814852	not_provided|DNAH2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.114	0.00428526571416	0.0019	0.00159744	0.0018	0.0007	0.0010	0	0.0009	0.0029	0	6.791e-05	0.001824	282	154602	rs146533727	0.0022	0.0022	0.0023	0.0021	0.0026	0.0021	0.0021	0.0026	0.0025	0.0003	0.0013	0.0006	0	0.0010	0.0026	0.0026	0.0019	0.0001	0.0019	0.0019	0.0020	0.0018	0.0031	0.0017	0.0016	0.0027	0.0026	0.0006	0	0.0021	0.0012	0	0.0006	0.0068	0.0031	0.0033	0.0006	0.167	0.23095	T	.	.	.	0.032	0.20242	B	0.046	0.24676	B	0.888349	0.07279	N	1.072200	0.961673	0.38248	D	1.975	0.53506	M	1.86	0.24285	T	-2.52	0.54702	D	0.395	0.43610	-1.0856	0.06298	T	0.088	0.33941	T	10	0.014644533	0.00308	T	0.004285	0.10373	T	0.114	0.32008	.	.	0.437850553699	0.43404	0.33954248161697725	0.33867	0.275190507075	0.30004	0.289508849382	0.08850	T	0.231612	0.59798	T	-0.501949	0.00558	T	-0.497782	0.22578	T	0.0313433502590505	0.02201	T	0.709529	0.32034	T	0.06554646	0.14020	0.124509834	0.30010	0.06554646	0.14019	0.124509834	0.30009	-5.892	0.45367	T	.	.	0.120	0.24666	B	.;.	.;.	2.626578	0.34148	19.54	0.99584136865697892	0.73218	0.88062	0.47829	D	AEFDBCI	0.496510	0.53142	N	-0.137227487987935	0.35779	2.059543	-0.0649119117587832	0.36852	2.149991	0.0261956337080102	0.13697	0.497415	0.19182	0	0.59043	0.45803	0	0.315538	0.05692	2	0.542086	0.14980	0	.	.	4.66	3.64	0.40864	5.249000	0.65246	2.158000	0.30961	-0.181000	0.10308	1.000000	0.71638	0.967000	0.29559	0.738000	0.35369	0.0:0.8189:0.181:0.0	11.605	0.50281	222	0.91398	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.005435	0.002924	0.000000	0.008621	0.009146	0.003788	0.05	2119.43	43	chr17	7764236	.	C	T	2119.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.74;DP=516;ExcessHet=0;FS=1.83;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.869;SOR=0.875	GT:AD:DP:GQ:PL	0/1:91,93:184:99:2131,0,2194	9	0	1	0
chr17	9728356	9728356	G	T	exonic	USP43	.	nonsynonymous SNV	USP43:NM_001267576:exon15:c.G2723T:p.R908M,USP43:NM_153210:exon15:c.G2738T:p.R913M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0147270479148	.	.	1.965e-05	0	0	0	0	3.511e-05	0	0	1.94e-05	3	154602	rs773610064	1.166e-05	1.163e-05	8.185e-06	1.518e-05	4.545e-05	7.1e-06	5.81e-06	8.11e-06	6.43e-06	0	4.545e-05	0	0	0	0	1.351e-05	0	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	6.546e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.546e-05	0	0	0	0	4.41e-05	0	0	0.01	0.56456	D	0.071	0.52727	T	0.972	0.57405	D	0.667	0.53020	P	0.000001	0.00162	N	12.206800	0.978782	0.25225	N	1.1	0.28011	L	2.71	0.12055	T	-1.6	0.38540	N	0.516	0.54671	-1.0446	0.15942	T	0.077	0.30676	T	10	0.22507119	0.39327	T	0.014727	0.35036	T	0.132	0.35948	0.333	0.32005	0.583928190899	0.58065	0.34833392378938766	0.34747	0.38726876946	0.40007	0.281479179859	0.07699	T	0.03381	0.23067	T	-0.274433	0.11268	T	-0.452909	0.27374	T	0.177551135420799	0.19079	T	0.559944	0.20183	T	0.12785153	0.29907	0.086345784	0.19998	0.12785153	0.29907	0.086345784	0.19997	-4.455	0.30296	T	.	.	0.190	0.43325	B	.;.;.	.;.;.	3.014527	0.40329	21.1	0.96201864181289964	0.29025	0.66746	0.33186	D	AEFDBI	0.134774	0.25489	N	0.342997482747245	0.58371	4.008883	0.262277554265598	0.53351	3.504473	0.00178127063303742	0.08881	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.4	4.37	0.51830	2.444000	0.44549	3.853000	0.40098	-0.123000	0.13640	0.812000	0.29879	1.000000	0.68203	0.084000	0.17470	0.1082:0.0:0.8918:0.0	8.177	0.30450	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	.	.	.	.	.	.	.	.	0.05	1300.43	33	chr17	9728356	.	G	T	1300.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.22;DP=471;ExcessHet=0;FS=0.619;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=1.07;SOR=0.632	GT:AD:DP:GQ:PL	0/1:93,56:149:99:1312,0,2377	9	0	1	0
chr17	16217348	16217348	G	A	exonic	PIGL	.	nonsynonymous SNV	PIGL:NM_004278:exon1:c.G122A:p.S41N	CHIME syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0227031417889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.32929	T	0.317	0.32144	T	0.828	0.46021	P	0.374	0.43683	B	0.010675	0.29831	N	0.431452	0.72825	0.33690	D	1.79	0.46772	L	-1.07	0.76948	T	-1.0	0.26422	N	0.18	0.25377	-0.3616	0.73216	T	0.328	0.69631	T	10	0.18763912	0.34282	T	0.022703	0.45612	T	0.177	0.44549	0.403	0.43408	0.863795767011	0.86247	0.40188283917858203	0.40104	0.108664449651	0.12253	0.412895262241	0.26858	T	0.014814	0.13743	T	-0.119462	0.33213	T	-0.409376	0.32298	T	0.627610743045807	0.37519	D	0.743726	0.37153	T	0.15069215	0.34294	0.21307424	0.45804	0.15069215	0.34293	0.21307424	0.45803	-6.131	0.47363	T	0.2293030515126621	0.31018	0.136	0.40506	B	.;.;.;.	.;.;.;.	1.830964	0.23262	15.95	0.67813943936330556	0.08468	0.05563	0.11461	N	AEFDGBHCI	0.115576	0.22718	N	-0.214580190972035	0.32535	1.835884	-0.261398501723842	0.29381	1.645636	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.49	4.52	0.54797	1.760000	0.38059	3.373000	0.37946	0.676000	0.76740	0.024000	0.20007	1.000000	0.68203	0.309000	0.24713	0.0:0.1698:0.8302:0.0	12.356	0.54501	573	0.70213	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2431.43	35	chr17	16217348	.	G	A	2431.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.095;DP=486;ExcessHet=0;FS=2.724;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=2.08;SOR=0.638	GT:AD:DP:GQ:PL	0/1:71,95:166:99:2443,0,1869	9	0	1	0
chr17	17147359	17147359	G	A	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon11:c.G1601A:p.R534K,MPRIP:NM_015134:exon11:c.G1247A:p.R416K,MPRIP:NM_201274:exon11:c.G1247A:p.R416K	.	431	1074	17	0	0	17	0.00785219	.	.	.	2716962	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.384	0.0224399987283	0.0003	0.000199681	0.0007	9.614e-05	0.0007	0	0	0.0006	0	0.0023	0.000608	94	154602	rs200990767	0.0005	0.0005	0.0004	0.0006	0.0028	0.0005	0.0005	0.0018	0.0018	0.0001	0.0009	0.0008	0	0	0.0028	0.0004	0.0008	0.0021	0.0005	0.0005	0.0004	0.0005	0.0027	0.0004	0.0003	0.0016	0.0013	2.405e-05	0	0.0007	0.0006	0	0	0	0.0006	0	0.0027	0.341	0.12673	T	0.709	0.13993	T	0.939	0.52645	P	0.842	0.60272	P	.	.	.	.	0.999307	0.46608	D	0.89	0.21648	L	-0.92	0.75108	T	-0.28	0.11547	N	0.441	0.48596	-0.5816	0.65554	T	0.328	0.69631	T	9	0.037644327	0.02132	T	0.02244	0.45329	T	0.384	0.70112	.	.	0.890180543243	0.88909	0.8531674880308365	0.85278	0.631570097891	0.57109	.	.	.	0.250749	0.62089	T	-0.164656	0.26045	T	-0.0151516	0.69348	D	0.0525764673948288	0.05946	T	0.885811	0.61165	D	0.23923945	0.46812	0.2482315	0.50369	0.23923945	0.46811	0.2482315	0.50368	-9.435	0.70454	D	.	.	0.246	0.50527	B	.;.;.	.;.;.	3.637068	0.51552	23.1	0.99509447787367855	0.68558	0.96582	0.69863	D	AEFGBCI	0.919119	0.88917	D	0.306371879108372	0.56475	3.812243	0.444331196750598	0.64353	4.688597	0.999999999808468	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.685742	0.62368	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	6.710000	0.74492	11.917000	0.99728	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.542	0.95269	544	0.72685	.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|Myosin phosphatase-RhoA interacting protein, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|Myosin phosphatase-RhoA interacting protein, PH 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	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.003788	0.05	684.43	40	chr17	17147359	.	G	A	684.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.928;DP=434;ExcessHet=0;FS=1.815;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=1.43;SOR=0.777	GT:AD:DP:GQ:PL	0/1:49,35:84:99:696,0,1142	9	0	1	0
chr17	17254870	17254870	C	T	exonic	COPS3	.	nonsynonymous SNV	COPS3:NM_001316358:exon7:c.G697A:p.V233I,COPS3:NM_001316355:exon8:c.G838A:p.V280I,COPS3:NM_001316356:exon8:c.G811A:p.V271I,COPS3:NM_001316357:exon8:c.G697A:p.V233I,COPS3:NM_001199125:exon9:c.G952A:p.V318I,COPS3:NM_001316354:exon9:c.G622A:p.V208I,COPS3:NM_003653:exon9:c.G1012A:p.V338I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.010611406545	.	.	8.321e-06	0	0	0	0	1.515e-05	0	0	6.5e-06	1	154602	rs750494846	3.479e-06	6.86e-06	2.774e-06	4.189e-06	3.045e-05	1.02e-06	7.4e-07	7.3e-07	2e-07	3.045e-05	0	0	0	0	0	2.75e-06	0	1.168e-05	6.682e-06	6.616e-06	0	1.373e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	1.0	0.00964	T	1.0	0.02934	T	0.555	0.38231	P	0.104	0.31021	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0	0.06538	N	0.99	0.41750	T	0.14	0.05405	N	0.658	0.66787	-1.0413	0.16921	T	0.043	0.18493	T	10	0.39259228	0.54999	T	0.010611	0.27345	T	0.226	0.52472	0.55	0.66576	0.388112687808	0.38423	0.36550856581754376	0.36464	0.517838923468	0.49650	0.827673077583	0.86207	D	0.103037	0.41132	T	-0.0933101	0.37530	T	-0.356324	0.38478	T	0.300139910140579	0.25010	T	0.849815	0.68393	T	0.12425656	0.29159	0.100020215	0.23900	0.12425656	0.29159	0.100020215	0.23900	-4.8	0.36093	T	.	.	0.136	0.37083	B	.;.;.	.;.;.	2.962806	0.39466	21.0	0.31215139023262028	0.01747	0.98215	0.80611	D	AEFBI	0.841784	0.75895	D	-0.0469438736707475	0.39739	2.348371	0.137398497855517	0.46477	2.893138	0.999999691738794	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	7.489000	0.80266	7.620000	0.62269	0.575000	0.29119	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:1.0:0.0:0.0	17.730	0.88283	830	0.39242	.;Proteasome component (PCI) domain|Proteasome component (PCI) domain|Proteasome component (PCI) domain;Proteasome component (PCI) domain|Proteasome component (PCI) domain|Proteasome component (PCI) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	985.14	37	chr17	17254870	.	C	T	985.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.748;DP=422;ExcessHet=0.2348;FS=2.587;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=-0.793;SOR=0.455	GT:AD:DP:GQ:PL	0/1:26,20:46:99:419,0,659	8	0	2	0
chr17	18750090	18750090	G	A	exonic	FBXW10	.	nonsynonymous SNV	FBXW10:NM_001267585:exon4:c.G952A:p.D318N,FBXW10:NM_001267586:exon4:c.G952A:p.D318N	.	440	1056	24	2	0	28	0.0130841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0137489159294	0.0042	0.00299521	0.0043	0.0007	0.0009	0	0.0011	0.0066	0.0023	0.0031	0.0018442	48	26028	rs150057313	0.0045	0.0045	0.0044	0.0045	0.0096	0.0044	0.0044	0.0075	0.0068	0.0006	0.0019	0.0102	2.519e-05	0.0009	0.0096	0.0050	0.0039	0.0035	0.0037	0.0037	0.0044	0.0029	0.0063	0.0034	0.0033	0.0058	0.0056	0.0004	0.0121	0.0026	0.0087	0	0.0010	0.0068	0.0063	0.0024	0.0023	0.003	0.68238	D	0.006	0.70582	D	0.682	0.44504	P	0.227	0.44588	B	0.002113	0.37227	U	0.000000	0.999959	0.19072	N	2.565	0.75005	M	1.94	0.30133	T	-3.45	0.67589	D	0.432	0.48963	-1.0464	0.15418	T	0.058	0.24279	T	10	0.011475027	0.00251	T	0.013749	0.33388	T	0.182	0.45420	.	.	0.0401082797425	0.02173	0.1386565937241595	0.13788	.	.	0.418321847916	0.27607	T	0.036653	0.24186	T	-0.595029	0.00156	T	-0.624883	0.10806	T	0.0660018028357799	0.08078	T	0.841416	0.51702	T	0.25057146	0.48059	0.2081788	0.45109	0.25057146	0.48059	0.2081788	0.45108	-10.739	0.79051	D	.	.	0.296	0.52639	B	.;.;.	.;.;.	3.448135	0.47999	22.5	0.99676218287163088	0.78912	0.78469	0.38718	D	AEFGI	0.372938	0.45839	N	0.0141820564769272	0.42500	2.561887	-0.0780726744570453	0.36299	2.110646	6.29446431696768E-5	0.04366	0.516011	0.20929	0	0.547309	0.14657	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	2.49	2.49	0.29274	6.351000	0.72969	11.507000	0.92987	0.237000	0.18210	1.000000	0.71638	1.000000	0.68203	0.093000	0.17941	0.0:0.0:1.0:0.0	8.538	0.32536	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	0.007056	0.005051	0.004076	0.008772	0.000000	0.000000	0.018405	0.003788	0.05	1442.43	33	chr17	18750090	.	G	A	1442.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.047;DP=462;ExcessHet=0;FS=0.687;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.59;MQRankSum=-0.52;QD=11.54;ReadPosRankSum=0.289;SOR=0.79	GT:AD:DP:GQ:PL	0/1:66,59:125:99:1454,0,1656	9	0	1	0
chr17	19656369	19656369	C	T	exonic	ALDH3A2	.	nonsynonymous SNV	ALDH3A2:NM_000382:exon4:c.C475T:p.L159F,ALDH3A2:NM_001031806:exon4:c.C475T:p.L159F,ALDH3A2:NM_001369136:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369137:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369138:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369139:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369146:exon5:c.C475T:p.L159F	Sjogren-Larsson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.612	0.108149247733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.841e-07	0	1.376e-06	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.59928	D	0.137	0.33894	T	0.999	0.90584	D	0.988	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.38	0.34346	L	-1.13	0.77719	T	-2.6	0.61722	D	0.569	0.67822	-0.2896	0.75276	T	0.465	0.79301	T	10	0.6122588	0.67509	D	0.108149	0.78454	D	0.612	0.84826	0.555	0.67271	0.871998136743	0.87075	0.6741759750367501	0.67355	0.882093243654	0.69809	0.48786854744	0.37144	T	0.654317	0.89548	D	0.181093	0.72142	D	0.0223517	0.71782	D	0.972841382026672	0.69858	D	0.927507	0.73308	D	0.8255387	0.85595	0.6425163	0.79109	0.8255387	0.85597	0.6425163	0.79110	-4.833	0.35622	T	0.3194412099042188	0.41755	0.293	0.52459	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.572320	0.50323	22.9	0.99873465643319759	0.95076	0.96312	0.68525	D	AEFDBI	0.553788	0.56490	D	0.31923462903431	0.57137	3.879924	0.3029993551499	0.55714	3.734408	0.999982803515169	0.51787	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	3.73	0.41982	2.842000	0.47931	1.383000	0.26051	0.529000	0.24592	0.990000	0.36992	0.825000	0.27162	0.218000	0.22407	0.0:0.8515:0.0:0.1485	11.152	0.47692	740	0.53092	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	46.13	44	chr17	19656369	.	C	T	46.13	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.552;DP=467;ExcessHet=0.2348;FS=30.657;InbreedingCoeff=-0.1096;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=2.93;SOR=5.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,6:42:16:0|1:19656367_A_G:16,0,1301:19656367	8	0	2	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	0.1	1354.14	39	chr17	34626316	.	A	C	1354.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.418;DP=457;ExcessHet=0.2348;FS=0.612;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=2.56;SOR=0.608	GT:AD:DP:GQ:PL	0/1:40,27:67:99:583,0,937	8	0	2	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	.	.	.	.	.	.	.	.	0.5	5690.04	86	chr17	37257713	.	C	T	5690.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.669;DP=834;ExcessHet=22.563;FS=449.684;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=0.076;SOR=12.223	GT:AD:DP:GQ:PL	0/1:35,38:73:99:445,0,363	0	0	10	0
chr17	38330115	38330115	A	G	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.T3454C:p.S1152P	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	0	1505	15	2	0	19	0.0062727	.	.	.	374952	Congenital_stationary_night_blindness_1E|not_specified|not_provided	MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.202	.	0.0071	0.00339457	0.0067	0.0019	0.0070	0	0.0033	0.0092	0.0080	0.0032	0.0068175	1054	154602	rs149252987	0.0093	0.0092	0.0095	0.0090	0.0108	0.0091	0.0091	0.0107	0.0106	0.0016	0.0062	0.0047	0	0.0050	0.0044	0.0108	0.0080	0.0032	0.0068	0.0067	0.0075	0.0060	0.0102	0.0064	0.0063	0.0096	0.0093	0.0022	0.0637	0.0062	0.0049	0	0.0040	0.0068	0.0102	0.0071	0.0025	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	0.001369	0.39242	N	0.117170	0.974477	0.25489	N	.	.	.	.	.	.	.	.	.	0.525	0.55453	-0.9590	0.39368	T	0.119	0.41626	T	10	0.005481094	0.00121	T	.	.	.	.	.	.	.	0.370608029945	0.36667	0.20258049630973457	0.20175	.	.	0.417994588614	0.27562	T	.	.	.	-0.324274	0.06553	T	-0.22625	0.52134	T	0.0142897565111187	0.00284	T	0.630437	0.24556	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.47338	B	.;.	.;.	3.573630	0.50344	22.9	0.99849158347106404	0.92838	0.28655	0.23613	N	AEFGBI	.	.	.	-0.0313918016067256	0.40438	2.40142	-0.0820273658342813	0.36133	2.098979	0.996471172121511	0.34770	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.27	4.18	0.48473	1.304000	0.33087	3.826000	0.39973	0.756000	0.94297	0.835000	0.30208	0.998000	0.33993	0.792000	0.37394	0.8425:0.0:0.0:0.1575	9.491	0.38121	125	0.94984	.;.	.	.	.	.	rs149252987	Likely benign	0	0	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	0.006042	0.005051	0.010870	0.000000	0.000000	0.000000	0.006098	0.003788	0.1	9195.14	370	chr17	38330115	.	A	G	9195.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.13;DP=1883;ExcessHet=0.2348;FS=1.117;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.609;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,178:341:99:0|1:38330115_A_G:4903,0,4155:38330115	8	0	2	0
chr17	38479767	38479767	C	T	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon14:c.C2513T:p.P838L	.	402	898	221	1	0	223	0.110451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00849835012686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179139464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.43531	T	0.288	0.36312	B	0.122	0.33328	B	0.007798	0.31194	N	0.339007	0.999976	0.54805	D	1.39	0.34934	L	.	.	.	.	.	.	0.135	0.13198	-1.0637	0.10855	T	0.029	0.12585	T	10	0.114997685	0.21652	T	0.008498	0.22482	T	.	.	.	.	0.548654159409	0.54520	0.28172159854278217	0.28085	.	.	0.641096115112	0.58720	T	0.005151	0.04592	T	-0.0195816	0.48914	T	-0.265904	0.48233	T	0.528647541999817	0.33684	D	.	.	.	0.1456844	0.33383	0.13910079	0.33200	0.1456844	0.33383	0.13910079	0.33199	-9.479	0.70728	D	.	.	0.062	0.08176	B	.;.	.;.	4.028711	0.59562	24.1	0.98714625169202608	0.45113	0.96355	0.68733	D	AEFBI	0.398704	0.47428	N	0.0482024911508484	0.44059	2.686984	0.198608916344503	0.49770	3.17639	0.838475277280199	0.24822	0.67177	0.52595	0	0.588066	0.40923	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.88	4.88	0.63131	1.707000	0.37507	4.883000	0.45686	0.598000	0.34611	0.428000	0.26393	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	13.409	0.60378	127	0.94899	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	94.43	34	chr17	38479767	.	C	T	94.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.606;DP=430;ExcessHet=0.7463;FS=0.774;InbreedingCoeff=-0.1759;MLEAC=3;MLEAF=0.15;MQ=49.15;MQRankSum=-2.443;QD=0.63;ReadPosRankSum=-1.268;SOR=0.781	GT:AD:DP:GQ:PL	0/1:42,6:48:21:21,0,1038	7	0	3	0
chr17	39829479	39829479	G	A	exonic	IKZF3	.	nonsynonymous SNV	IKZF3:NM_001257410:exon3:c.C71T:p.A24V,IKZF3:NM_001257411:exon3:c.C71T:p.A24V,IKZF3:NM_001257412:exon3:c.C71T:p.A24V,IKZF3:NM_001257413:exon3:c.C71T:p.A24V,IKZF3:NM_001257414:exon3:c.C71T:p.A24V,IKZF3:NM_012481:exon3:c.C71T:p.A24V,IKZF3:NM_183228:exon3:c.C71T:p.A24V,IKZF3:NM_183229:exon3:c.C71T:p.A24V,IKZF3:NM_183230:exon3:c.C71T:p.A24V,IKZF3:NM_183231:exon3:c.C71T:p.A24V,IKZF3:NM_183232:exon3:c.C71T:p.A24V	.	426	1085	10	1	0	12	0.00549954	.	.	.	2811304	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.017	0.00664395678553	0.0012	0.000199681	0.0008	0.0003	0.0005	0.0003	0.0006	0.0011	0.0011	0.0004	0.0008085	125	154602	rs61749874	0.0009	0.0010	0.0010	0.0009	0.0029	0.0009	0.0009	0.0019	0.0015	0.0003	0.0004	7.659e-05	0.0001	0.0005	0.0029	0.0011	0.0010	0.0003	0.0007	0.0007	0.0008	0.0006	0.0013	0.0006	0.0006	0.0011	0.0010	0.0002	0	0.0003	0	0.0002	0.0003	0	0.0013	0.0009	0.0002	0.332	0.24277	T	0.221	0.56192	T	0.001	0.12996	B	0.001	0.10090	B	0.449490	0.04806	N	1.427950	1	0.08975	N	0	0.06538	N	3.41	0.08986	T	-0.48	0.25551	N	0.052	0.15749	-0.9294	0.44227	T	0.011	0.04227	T	10	0.012108445	0.00261	T	0.006644	0.17529	T	0.017	0.02790	.	.	0.143184338766	0.13958	0.20533718198859963	0.20450	0.605635663499	0.55446	0.24314904213	0.03081	T	.	.	.	-0.730841	0.00024	T	-0.847206	0.00996	T	0.000450568437410543	0.00004	T	0.69513	0.30474	T	0.016803363	0.00223	0.03121239	0.01678	0.016803363	0.00223	0.03121239	0.01677	-3.753	0.22287	T	.	.	0.109	0.41156	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.140840	0.03405	0.616	0.70288833417984531	0.09247	0.00597	0.02669	N	AEFBI	0.049205	0.08476	N	-1.387075287123	0.02758	0.1222555	-1.43514637736797	0.02907	0.1346316	0.159831065858563	0.17575	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.44	-5.48	0.02388	-0.357000	0.07702	0.567000	0.19568	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1444:0.0:0.333:0.5226	5.690	0.17095	662	0.61715	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003024	0.000000	0.001359	0.005848	0.000000	0.008621	0.006098	0.000000	0.15	2782.45	34	chr17	39829479	.	G	A	2782.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.06;DP=483;ExcessHet=0.7463;FS=0.48;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.646;SOR=0.736	GT:AD:DP:GQ:PL	0/1:34,36:70:99:938,0,700	7	0	3	0
chr17	40164128	40164128	C	T	exonic	CASC3	.	nonsynonymous SNV	CASC3:NM_007359:exon7:c.C1433T:p.P478L	.	433	1066	22	1	0	24	0.0111317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0078371103663	0.0005	0.000798722	0.0009	0.0006	0.0018	0	0	0.0009	0.0046	0.0008	0.0008926	138	154602	rs140375987	0.0009	0.0009	0.0008	0.0009	0.0401	0.0009	0.0008	0.0359	0.0342	0.0013	0.0027	0.0011	2.52e-05	5.827e-05	0.0401	0.0006	0.0022	0.0009	0.0009	0.0009	0.0009	0.0010	0.0023	0.0008	0.0008	0.0017	0.0015	0.0007	0	0.0023	0.0009	0	0	0.0340	0.0007	0.0066	0.0006	0.005	0.63226	D	0.049	0.48336	D	0.985	0.61118	D	0.493	0.47443	P	0.000416	0.44736	D	0.235442	0.999998	0.58761	D	1.67	0.42885	L	.	.	.	-0.66	0.19085	N	0.578	0.59986	-1.0268	0.21494	T	0.084	0.32729	T	9	0.019713819	0.00444	T	0.007837	0.20798	T	0.087	0.25287	.	.	0.232442253697	0.22838	0.2393387749667822	0.23847	0.579947014083	0.53851	0.479171782732	0.35943	T	0.03977	0.25301	T	-0.335218	0.05727	T	-0.259532	0.48871	T	0.0274194980544052	0.01605	T	0.925507	0.72634	D	0.11321392	0.26741	0.06890204	0.14448	0.11321392	0.26741	0.06890204	0.14447	-5.211	0.39054	T	.	.	0.098	0.16143	B	.	.	4.526741	0.71028	25.6	0.92941958910010425	0.22511	0.90570	0.51856	D	AEFBI	0.303224	0.41125	N	0.252908875417437	0.53783	3.545777	0.348133233150198	0.58395	4.009777	0.18512621597521	0.17926	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	2.543000	0.45411	5.912000	0.51036	0.599000	0.40250	0.991000	0.37257	0.999000	0.35428	0.976000	0.56436	0.1511:0.8489:0.0:0.0	14.083	0.64465	204	0.92044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.034240	0.040404	0.031250	0.105263	0.000000	0.025862	0.006098	0.000000	0.05	573.43	37	chr17	40164128	.	C	T	573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.69;DP=355;ExcessHet=0;FS=5.124;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-0.455;SOR=1.657	GT:AD:DP:GQ:PL	0/1:17,21:38:99:585,0,327	9	0	1	0
chr17	41424343	41424343	G	A	exonic	KRT37	.	nonsynonymous SNV	KRT37:NM_003770:exon1:c.C181T:p.P61S	.	413	1092	16	1	0	18	0.00817439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00819086165742	0.0013	0.000599042	0.0014	0.0003	0.0006	0	0.0002	0.0023	0.0033	0.0004	0.0013001	201	154602	rs140747125	0.0014	0.0014	0.0013	0.0014	0.0128	0.0013	0.0013	0.0105	0.0096	0.0007	0.0012	0.0039	0	0.0005	0.0128	0.0014	0.0017	0.0005	0.0012	0.0012	0.0015	0.0010	0.0018	0.0011	0.0010	0.0015	0.0014	0.0003	0	0.0013	0.0058	0	0.0007	0	0.0018	0.0019	0.0002	0.392	0.10766	T	0.26	0.23029	T	0.208	0.29916	B	0.029	0.21540	B	0.005220	0.32996	N	0.139318	1	0.08975	N	1.32	0.33002	L	-1.46	0.80983	T	-0.96	0.25551	N	0.164	0.17278	-0.9296	0.44197	T	0.205	0.56376	T	10	0.012026131	0.00260	T	0.008191	0.21700	T	0.086	0.25016	.	.	0.351830644314	0.34792	0.10540859306491256	0.10470	0.0749227178598	0.08402	0.399715781212	0.25029	T	0.011377	0.10158	T	-0.439226	0.01307	T	-0.409861	0.32240	T	0.00179616865786308	0.00018	T	.	.	.	0.023317413	0.01061	0.030227507	0.01453	0.023317413	0.01061	0.030227507	0.01453	-2.533	0.06011	T	.	.	0.097	0.16010	B	.	.	0.497711	0.08667	5.440	0.85855578787782683	0.16155	0.04340	0.09903	N	AEFBI	0.037890	0.05280	N	-0.951720951188039	0.09654	0.4578506	-0.960944658818885	0.10670	0.5388846	1.72231900435501E-5	0.02871	0.497415	0.19182	0	0.55458	0.17659	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.0	1.83	0.24279	0.023000	0.13424	-0.034000	0.12756	0.671000	0.69459	0.002000	0.15269	0.000000	0.08366	0.076000	0.17014	0.1088:0.1903:0.5327:0.1682	3.101	0.05943	209	0.91859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.000000	0.012228	0.017544	0.000000	0.025862	0.012195	0.003788	0.1	6465.14	179	chr17	41424343	.	G	A	6465.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.588;DP=2018;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.52;SOR=0.695	GT:AD:DP:GQ:PL	0/1:131,121:252:99:3038,0,3155	8	0	2	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	883.7	49	chr17	43209576	.	C	T	883.7	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.175;DP=394;ExcessHet=3.8694;FS=226.211;InbreedingCoeff=-0.444;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.48;ReadPosRankSum=0.783;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,12:33:99:0|1:43209572_C_T:157,0,465:43209572	1	0	5	4
chr17	46555363	46555363	C	T	exonic	LRRC37A2	.	nonsynonymous SNV	LRRC37A2:NM_001006607:exon13:c.C4993T:p.H1665Y	.	450	1067	4	1	0	6	0.00280374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00725468051546	0.0011	0.000798722	0.0015	0.0006	0.0027	0	0	0.0019	0.0048	0.0011	0.001229	190	154602	rs199645771	0.0014	0.0014	0.0013	0.0014	0.0042	0.0013	0.0013	0.0029	0.0025	0.0003	0.0031	0.0006	0	0.0005	0.0042	0.0014	0.0014	0.0009	0.0008	0.0010	0.0008	0.0009	0.0021	0.0007	0.0007	0.0015	0.0013	0.0003	0	0.0021	0.0015	0	0	0	0.0010	0.0026	0.0005	0.124	0.27426	T	0.035	0.52389	D	0.108	0.26116	B	0.029	0.21540	B	.	.	.	.	0.999999	0.08975	N	0.345	0.11182	N	0.36	0.57880	T	-0.05	0.07736	N	0.266	0.33904	-1.0594	0.11905	T	0.049	0.20711	T	9	0.007635802	0.00173	T	0.007255	0.19225	T	0.018	0.03083	.	.	0.0297737177859	0.01360	0.04695057931023808	0.04638	.	.	0.784309983253	0.79578	T	8.69E-4	0.00434	T	-0.549179	0.00295	T	-0.567182	0.15709	T	0.00201111159949478	0.00021	T	0.542646	0.18460	T	0.029213008	0.02380	0.04292633	0.05224	0.029213008	0.02380	0.04292633	0.05224	-3.155	0.11939	T	.	.	0.093	0.14385	B	.;.	.;.	0.274485	0.06519	3.000	0.47561332796159067	0.03898	0.00365	0.01864	N	AEFI	0.030804	0.03169	N	-1.21962863781778	0.04716	0.2134301	-1.3248052774783	0.04112	0.193259	1.8955469769915E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	2.05	-2.0	0.07024	0.211000	0.17268	-0.315000	0.10009	-2.074000	0.00407	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.0:0.4513:0.2308:0.3179	3.070	0.05851	458	0.78890	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001935	0.000000	0.001412	0.000000	0.000000	0.000000	0.007874	0.000000	0.1	3486.14	39	chr17	46555363	.	C	T	3486.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.219;DP=1074;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=41.68;MQRankSum=-2.323;QD=5.27;ReadPosRankSum=-1.174;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:347,107:454:99:0|1:46555363_C_T:1676,0,10114:46555363	8	0	2	0
chr17	50529086	50529086	C	A	exonic	MYCBPAP	.	nonsynonymous SNV	MYCBPAP:NM_001366294:exon18:c.C2670A:p.D890E,MYCBPAP:NM_032133:exon18:c.C2622A:p.D874E	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00200125105352	.	0.000599042	0.0003	9.619e-05	0	0	0	1.5e-05	0	0.0019	0.0002329	36	154602	rs527652023	0.0001	0.0001	6.943e-05	0.0002	0.0013	0.0001	9.634e-05	0.0011	0.0011	0	0	0	0	1.872e-05	0.0003	3.957e-05	0.0001	0.0013	0.0001	0.0001	8.994e-05	0.0001	0.0019	6.506e-05	5.319e-05	0.0010	0.0007	0	0	6.535e-05	0	0	0	0	8.819e-05	0	0.0019	0.323	0.13436	T	0.331	0.18903	T	.	.	.	.	.	.	0.003827	0.34438	N	0.244360	0.999551	0.20991	N	.	.	.	2.01	0.21865	T	-0.79	0.23156	N	0.025	0.01203	-1.0489	0.14705	T	0.030	0.13023	T	10	0.00640586	0.00145	T	0.002001	0.03615	T	0.047	0.12962	0.122	0.02867	0.291694819147	0.28783	.	.	0.179901956931	0.20237	0.381356358528	0.22448	T	.	.	.	-0.678117	0.00049	T	-0.771472	0.02720	T	0.0168819587857182	0.00440	T	0.587441	0.21491	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32202	B	.;.	.;.	-0.161838	0.03290	0.567	0.76415033146919353	0.11459	0.01863	0.05749	N	AEFBI	0.057089	0.10607	N	-0.98732920065019	0.08873	0.4177567	-0.995652561712057	0.09882	0.4943052	0.0187888329176578	0.13096	0.549168	0.22868	0	0.610034	0.51514	0	0.577349	0.28860	0	0.616125	0.45549	0	.	.	5.26	-1.62	0.07926	-1.466000	0.02461	-3.128000	0.03037	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.008000	0.08271	0.4371:0.2315:0.1288:0.2026	1.050	0.01480	939	0.14249	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.1	1768.14	38	chr17	50529086	.	C	A	1768.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.74;DP=442;ExcessHet=0.2348;FS=0.635;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=1.3;SOR=0.602	GT:AD:DP:GQ:PL	0/1:40,33:73:99:863,0,971	8	0	2	0
chr17	50576281	50576281	G	A	exonic	CACNA1G	.	nonsynonymous SNV	CACNA1G:NM_001256324:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256325:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256326:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256327:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256328:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256329:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256330:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256331:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256332:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256333:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256334:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256359:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256360:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256361:exon8:c.G1879A:p.G627R,CACNA1G:NM_018896:exon8:c.G1879A:p.G627R,CACNA1G:NM_198376:exon8:c.G1879A:p.G627R,CACNA1G:NM_198377:exon8:c.G1879A:p.G627R,CACNA1G:NM_198378:exon8:c.G1879A:p.G627R,CACNA1G:NM_198379:exon8:c.G1879A:p.G627R,CACNA1G:NM_198380:exon8:c.G1879A:p.G627R,CACNA1G:NM_198382:exon8:c.G1879A:p.G627R,CACNA1G:NM_198383:exon8:c.G1879A:p.G627R,CACNA1G:NM_198384:exon8:c.G1879A:p.G627R,CACNA1G:NM_198385:exon8:c.G1879A:p.G627R,CACNA1G:NM_198386:exon8:c.G1879A:p.G627R,CACNA1G:NM_198387:exon8:c.G1879A:p.G627R,CACNA1G:NM_198388:exon8:c.G1879A:p.G627R,CACNA1G:NM_198396:exon8:c.G1879A:p.G627R	Spinocerebellar ataxia 42, Autosomal dominant	0	1506	16	0	0	16	0.00528402	.	.	.	727275	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.299	0.0670740785396	0.0003	0.00119808	0.0028	0.0004	0.0008	0	0	0.0022	0.0088	0.0062	0.0011513	178	154602	rs200317339	0.0010	0.0011	0.0009	0.0012	0.0054	0.0010	0.0010	0.0049	0.0048	0.0002	0.0006	0.0046	0.0001	3.99e-05	0.0052	0.0007	0.0016	0.0054	0.0008	0.0008	0.0007	0.0009	0.0044	0.0006	0.0006	0.0029	0.0025	0.0002	0	0.0008	0.0043	0	0	0.0034	0.0008	0.0024	0.0044	0.186	0.24183	T	0.13	0.41573	T	0.003	0.11197	B	0.008	0.13708	B	0.349988	0.13831	N	0.713114	0.99899	0.21728	N	1.1	0.28011	L	-3.97	0.96716	D	-2.0	0.46146	N	0.168	0.21319	0.250	0.86741	D	0.832	0.94376	D	10	0.0069058537	0.00157	T	0.067074	0.70060	D	0.299	0.61955	0.204	0.11936	0.89126680826	0.89019	0.4557633473066184	0.45494	0.0849823423278	0.09603	0.511161386967	0.40384	T	0.027272	0.48379	T	-0.201931	0.20526	T	-0.060779	0.66277	T	0.0493582370862711	0.05388	T	0.880112	0.61284	D	0.12069945	0.28396	0.118940026	0.28709	0.10224915	0.24158	0.124039076	0.29901	-6.559	0.50739	T	0.2774585651588352	0.37220	0.268	0.52035	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.921333	0.38785	20.8	0.99775435489124153	0.86260	0.46059	0.27676	N	AEFDBCI	0.200748	0.32746	N	-0.226702404780759	0.32042	1.80286	-0.0293258361469758	0.38397	2.261579	0.72436983267059	0.22970	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.72	4.7	0.58776	2.959000	0.48846	5.811000	0.50008	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.985000	0.61073	0.1496:0.0:0.7166:0.1338	7.282	0.25494	940	0.13648	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.005539	0.000000	0.008152	0.002941	0.000000	0.000000	0.003049	0.018939	0.1	1541.14	39	chr17	50576281	.	G	A	1541.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.61;DP=412;ExcessHet=0.2348;FS=0.694;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.363;SOR=0.826	GT:AD:DP:GQ:PL	0/1:22,24:46:99:588,0,482	8	0	2	0
chr17	50634975	50634975	G	C	exonic	ABCC3	.	nonsynonymous SNV	ABCC3:NM_001144070:exon1:c.G39C:p.K13N,ABCC3:NM_003786:exon1:c.G39C:p.K13N	.	413	1094	15	0	0	15	0.0068089	.	.	.	2811516	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.075	.	0.0042	0.00239617	0.0361	0.0092	0.0175	0	0.0357	0.0646	0.0833	0	0.0029883	462	154602	rs201886646	0.0074	0.0064	0.0074	0.0075	0.0080	0.0073	0.0072	0.0077	0.0076	0.0019	0.0043	0.0120	3.631e-05	0.0101	0.0080	0.0078	0.0070	0.0009	0.0063	0.0063	0.0066	0.0059	0.0100	0.0060	0.0058	0.0094	0.0091	0.0011	0	0.0046	0.0144	0.0002	0.0076	0.0068	0.0100	0.0080	0.0014	0.222	0.18823	T	0.246	0.23984	T	0.027	0.25085	B	0.022	0.21085	B	0.843825	0.07016	N	1.081660	0.901692	0.36187	D	1.7	0.43825	L	1.32	0.35219	T	-5.0	0.82341	D	0.242	0.37405	-1.0050	0.28457	T	0.075	0.30272	T	10	0.0056319833	0.00125	T	.	.	.	0.075	0.21907	0.459	0.52590	0.510230903827	0.50662	0.1288990446289757	0.12814	0.210539273682	0.23543	0.727804601192	0.71185	T	0.094028	0.39332	T	-0.505028	0.00536	T	-0.490252	0.23365	T	0.0505261759568261	0.05591	T	0.644036	0.25562	T	0.22649622	0.45332	0.2128785	0.45776	0.22649622	0.45332	0.2128785	0.45775	-2.898	0.12129	T	.	.	0.666	0.71558	P	.;.;.	.;.;.	3.696541	0.52696	23.3	0.99717977208791564	0.81843	0.64099	0.32298	D	AEFDGBHCI	0.348717	0.44275	N	-0.134918668007361	0.35877	2.066503	-0.0203688633835132	0.38795	2.290869	0.999999999999733	0.74766	0.455138	0.09556	0	0.606814	0.50340	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	3.88	3.88	0.43959	3.749000	0.54867	2.862000	0.35209	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	13.070	0.58470	837	0.37933	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002125	0.000000	0.001453	0.000000	0.000000	0.018519	0.003289	0.000000	0.05	75.43	35	chr17	50634975	.	G	C	75.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.552;DP=291;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.03;ReadPosRankSum=0.327;SOR=0.33	GT:AD:DP:GQ:PL	0/1:11,4:15:87:87,0,285	9	0	1	0
chr17	56442921	56442921	G	T	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_153228:exon9:c.G1096T:p.A366S,ANKFN1:NM_001365758:exon10:c.G883T:p.A295S,ANKFN1:NM_001370326:exon10:c.G1087T:p.A363S	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0373931444775	0.0005	0.000399361	0.0008	9.711e-05	0.0003	0.0001	0.0002	0.0009	0.0011	0.0019	0.0007568	117	154602	rs138216458	0.0006	0.0006	0.0005	0.0007	0.0033	0.0006	0.0006	0.0022	0.0019	2.989e-05	0.0004	0.0041	2.52e-05	3.747e-05	0.0033	0.0005	0.0009	0.0022	0.0004	0.0004	0.0004	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	7.22e-05	0	0.0004	0.0049	0	0	0.0034	0.0004	0	0.0017	0.01	0.56456	D	0.0	0.92824	D	1.0	0.90584	D	0.96	0.70309	D	0.000011	0.62929	N	0.148766	0.999998	0.58761	D	3.115	0.87836	M	1.4	0.33630	T	-2.4	0.52776	N	0.736	0.73645	-0.6599	0.62280	T	0.243	0.61119	T	10	0.014914453	0.00313	T	0.037393	0.57590	D	0.232	0.53354	.	.	0.872464492951	0.87121	0.5807451798694027	0.58003	0.559285100713	0.52478	0.571488440037	0.48889	T	0.07888	0.42385	T	-0.292023	0.09434	T	-0.199031	0.54739	T	0.0982959046959877	0.12168	T	0.882712	0.60756	D	0.18941581	0.40482	0.25607088	0.51301	0.18941581	0.40482	0.25607088	0.51300	-12.183	0.85731	D	.	.	0.181	0.41708	B	.;.;.	.;.;.	4.360658	0.67059	25.0	0.99700190623640705	0.80591	0.99515	0.96953	D	AEFGBHI	0.888402	0.82148	D	0.864844077679793	0.89936	10.18144	0.854003066918401	0.93247	11.91888	0.999993495095708	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.72	5.72	0.89380	7.679000	0.83364	9.860000	0.82050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:0.0:1.0:0.0	19.880	0.96894	188	0.92666	Fibronectin type III;Fibronectin type III;Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	640.43	33	chr17	56442921	.	G	T	640.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.707;DP=384;ExcessHet=0;FS=2.154;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.213;SOR=0.985	GT:AD:DP:GQ:PL	0/1:35,27:62:99:652,0,970	9	0	1	0
chr17	57885490	57885490	-	C	exonic	CUEDC1	.	frameshift insertion	CUEDC1:NM_001271875:exon2:c.74dupG:p.G26Rfs*75,CUEDC1:NM_001292025:exon2:c.74dupG:p.G26Rfs*75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.442e-06	2.052e-06	1.427e-06	1.458e-06	1.286e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.247e-07	0	1.286e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	842.39	37	chr17	57885490	.	T	TC	842.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.163;DP=382;ExcessHet=0;FS=5.017;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.41;SOR=0.302	GT:AD:DP:GQ:PL	0/1:31,33:64:99:854,0,771	9	0	1	0
chr17	59737489	59737489	A	C	exonic	VMP1	.	nonsynonymous SNV	VMP1:NM_001329394:exon4:c.A249C:p.L83F,VMP1:NM_001329395:exon4:c.A249C:p.L83F,VMP1:NM_001329396:exon4:c.A249C:p.L83F,VMP1:NM_001329397:exon4:c.A249C:p.L83F,VMP1:NM_030938:exon4:c.A249C:p.L83F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0141066231821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.191	0.36101	T	0.006	0.13644	B	0.014	0.16862	B	0.000799	0.41772	N	0.212141	0.999944	0.81001	D	1.855	0.49169	L	0.04	0.62051	T	-1.78	0.42001	N	0.357	0.39861	-1.0221	0.23031	T	0.141	0.46091	T	10	0.14252281	0.27069	T	0.014107	0.34004	T	0.049	0.13647	0.353	0.35246	0.0675242888579	0.06100	0.5712040838939131	0.57048	0.91776774061	0.71314	0.544338107109	0.45059	T	0.089455	0.38377	T	-0.0827499	0.39266	T	-0.356641	0.38440	T	0.287641048431396	0.24491	T	0.718628	0.33863	T	0.062745705	0.13140	0.10852297	0.26143	0.062745705	0.13139	0.10852297	0.26142	-5.324	0.40180	T	.	.	0.076	0.19958	B	.;.;.;.	.;.;.;.	2.380794	0.30564	18.47	0.9833404357562634	0.40368	0.85375	0.44501	D	AEBI	0.569707	0.57438	D	-0.333592567050439	0.27880	1.533198	-0.17981141623968	0.32280	1.834908	0.128581799000209	0.17043	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.83	2.31	0.27816	2.188000	0.42243	3.622000	0.39288	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7012:0.1125:0.1862:0.0	7.118	0.24604	542	0.72843	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	277.63	33	chr17	59737489	.	A	C	277.63	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.301;DP=679;ExcessHet=1.5895;FS=224.077;InbreedingCoeff=-0.2515;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.65;ReadPosRankSum=0.862;SOR=9.94	GT:AD:DP:GQ:PL	0/1:69,33:102:95:95,0,945	6	0	4	0
chr17	61869922	61869922	C	T	exonic	INTS2	.	nonsynonymous SNV	INTS2:NM_001330417:exon21:c.G2845A:p.V949I,INTS2:NM_001351695:exon21:c.G2845A:p.V949I,INTS2:NM_020748:exon21:c.G2869A:p.V957I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00566404568769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	2.723e-06	4.126e-06	4.498e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.498e-06	0	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.069	0.35537	T	0.238	0.25748	T	0.0	0.02946	B	0.001	0.04355	B	0.517444	0.11779	N	0.788732	0.999997	0.08975	N	0	0.06538	N	1.0	0.41392	T	-0.14	0.09135	N	0.098	0.07949	-1.0171	0.24657	T	0.045	0.19437	T	9	0.0576905	0.06667	T	0.005664	0.14651	T	0.021	0.04004	0.172	0.07774	0.102598925029	0.09809	0.0713276513861524	0.07069	0.208494732715	0.23322	0.307826161385	0.11578	T	0.024804	0.18673	T	-0.335231	0.05725	T	-0.719313	0.04829	T	0.0753233408306804	0.09379	T	0.691131	0.30052	T	0.017817244	0.00305	0.03141281	0.01727	0.017817244	0.00305	0.03141281	0.01727	-3.696	0.19259	T	.	.	0.069	0.03736	B	.;.;.;.	.;.;.;.	2.200258	0.28064	17.67	0.91834946819283014	0.21145	0.56627	0.30165	D	AEFBI	0.064981	0.12647	N	-0.79596912451122	0.13414	0.6606697	-0.648582760540556	0.18252	0.9742434	9.26385963429308E-5	0.04910	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.14	1.51	0.22094	0.867000	0.27621	-0.091000	0.12058	-0.313000	0.06017	0.822000	0.30018	0.000000	0.08366	0.975000	0.56047	0.0:0.4596:0.0:0.5404	5.228	0.14724	40	0.97949	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	788.43	34	chr17	61869922	.	C	T	788.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.905;DP=435;ExcessHet=0;FS=1.584;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.41;ReadPosRankSum=-0.797;SOR=0.91	GT:AD:DP:GQ:PL	0/1:85,38:123:99:800,0,2086	9	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	.	.	.	.	.	.	.	.	0.375	260.82	69	chr17	61968034	.	C	G	260.82	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-1.413;DP=565;ExcessHet=4.5998;FS=188.81;InbreedingCoeff=-0.5387;MLEAC=7;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=1.49;SOR=10.074	GT:AD:DP:GQ:PL	0/1:34,24:58:77:77,0,388	2	0	6	2
chr17	64465543	64465543	T	C	splicing	MILR1	NM_001291316:exon5:c.568+2T>C;NM_001291317:exon5:c.583+2T>C;NM_001369493:exon6:c.853+2T>C;NM_001085423:exon6:c.853+2T>C	.	.	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00479233	0.0044	0	0.0009	0.0004	0	8.194e-05	0	0.0273	0.002445	378	154602	rs200081783	0.0013	0.0014	0.0008	0.0019	0.0213	0.0013	0.0013	0.0205	0.0202	0	0.0001	0.0008	5.069e-05	0	0.0010	1.536e-05	0.0014	0.0213	0.0007	0.0007	0.0004	0.0011	0.0220	0.0006	0.0006	0.0186	0.0173	2.406e-05	0	0	0.0003	0.0004	0	0	1.47e-05	0	0.0220	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.313083	0.07480	T	-0.205578	0.54117	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	3.624203	0.51305	23.1	0.61302414925877691	0.06675	0.62586	0.31826	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.0859098348252376	0.15994	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.870087	0.53741	4.24	4.24	0.49486	1.199000	0.31842	4.496000	0.43591	0.665000	0.62972	0.978000	0.35038	1.000000	0.68203	0.013000	0.09966	0.0:0.0:0.0:1.0	10.016	0.41186	927	0.17636	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	861.43	33	chr17	64465543	.	T	C	861.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.41;DP=382;ExcessHet=0;FS=0.845;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=1;SOR=0.563	GT:AD:DP:GQ:PL	0/1:41,38:79:99:873,0,936	9	0	1	0
chr17	68903472	68903472	G	A	exonic	ABCA8	.	nonsynonymous SNV	ABCA8:NM_001375771:exon18:c.C2243T:p.A748V,ABCA8:NM_001375772:exon18:c.C1004T:p.A335V,ABCA8:NM_007168:exon18:c.C2306T:p.A769V,ABCA8:NM_001288986:exon19:c.C2426T:p.A809V,ABCA8:NM_001288985:exon20:c.C2426T:p.A809V	.	437	1049	35	1	0	37	0.0173302	.	.	.	3886771	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.052	.	0.0003	0.00199681	0.0017	0	0	0	0	0.0004	0.0044	0.0107	0.0014683	227	154602	rs184161214	0.0010	0.0010	0.0007	0.0014	0.0115	0.0010	0.0010	0.0109	0.0107	2.987e-05	0.0005	0.0002	0	0	0.0066	0.0003	0.0016	0.0115	0.0008	0.0008	0.0006	0.0010	0.0148	0.0007	0.0006	0.0120	0.0110	4.822e-05	0	0.0003	0.0003	0.0002	0	0	0.0005	0.0014	0.0148	0.568	0.06381	T	0.491	0.14412	T	0.002	0.09854	B	0.002	0.06944	B	0.440630	0.04758	N	1.409270	1	0.08975	N	0.695	0.17993	N	-0.97	0.75670	T	0.58	0.03041	N	0.069	0.04188	-1.0025	0.29197	T	0.193	0.54667	T	10	0.0037364364	0.00069	T	.	.	.	0.052	0.14661	.	.	0.469578130381	0.46583	0.14823423802511468	0.14745	0.0573251470501	0.06345	0.262227773666	0.05158	T	0.037209	0.37060	T	-0.61317	0.00121	T	-0.644158	0.09368	T	0.00532305861954774	0.00058	T	0.275172	0.06971	T	0.019498836	0.00482	0.031217244	0.01680	0.019498836	0.00482	0.031217244	0.01680	.	.	.	.	.	0.067	0.03266	B	.;.;.	.;.;.	-0.368211	0.02333	0.251	0.70904960446772303	0.09450	0.05502	0.11389	N	AEFBHCI	0.136810	0.25760	N	-1.48736639363359	0.01938	0.08510498	-1.53869890657539	0.02055	0.09393695	9.66251316486085E-5	0.04910	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.43	-4.32	0.03433	-0.756000	0.04882	-6.269000	0.01447	-0.546000	0.04920	0.000000	0.06391	0.000000	0.08366	0.103000	0.18424	0.1687:0.2995:0.4231:0.1087	3.460	0.07097	964	0.07719	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004076	0.000000	0.000000	0.000000	0.006098	0.026515	0.1	2308.14	37	chr17	68903472	.	G	A	2308.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.206;DP=474;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.072;SOR=0.689	GT:AD:DP:GQ:PL	0/1:55,37:92:99:836,0,1329	8	0	2	0
chr17	74372572	74372572	C	T	exonic	GPR142	.	nonsynonymous SNV	GPR142:NM_001331076:exon4:c.C1097T:p.P366L,GPR142:NM_001331077:exon4:c.C1097T:p.P366L,GPR142:NM_181790:exon4:c.C1361T:p.P454L	.	431	1072	18	1	0	20	0.00924214	.	.	.	2808330	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.041	0.0173496799223	0.0037	0.00159744	0.0043	0.0018	0.0037	0.0001	0.0008	0.0064	0.0062	0.0017	0.0039456	610	154602	rs140397567	0.0050	0.0049	0.0049	0.0050	0.0057	0.0049	0.0048	0.0055	0.0055	0.0012	0.0045	0.0051	0.0001	0.0010	0.0042	0.0057	0.0054	0.0017	0.0040	0.0040	0.0043	0.0037	0.0057	0.0038	0.0037	0.0053	0.0051	0.0018	0.0307	0.0052	0.0058	0.0002	0.0005	0.0034	0.0057	0.0043	0.0014	0.396	0.10623	T	0.288	0.21144	T	0.005	0.12996	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.6	0.40776	L	-0.26	0.67187	T	-0.53	0.16393	N	0.081	0.05670	-1.0246	0.22214	T	0.099	0.36957	T	9	0.0063492656	0.00143	T	0.01735	0.39013	T	0.041	0.10877	.	.	0.455909487837	0.45213	0.18651384417242733	0.18569	0.117002942572	0.13191	0.265333026648	0.05543	T	0.006776	0.06208	T	-0.565623	0.00235	T	-0.581529	0.14409	T	0.00308196130042475	0.00032	T	0.447055	0.12542	T	0.013799263	0.00070	0.031015558	0.01634	0.013799263	0.00070	0.031015558	0.01634	-3.986	0.23594	T	.	.	0.065	0.01934	B	.	.	-0.182750	0.03181	0.521	0.40642597587774743	0.02881	0.00903	0.03537	N	AEFBI	0.054018	0.09785	N	-1.35594138810062	0.03064	0.1362827	-1.40841692912964	0.03167	0.1472094	0.0371806132958303	0.14283	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.25	-2.64	0.05757	-0.539000	0.06202	-2.401000	0.03800	-1.781000	0.00652	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3702:0.0:0.6298	9.998	0.41081	787	0.46738	.	.	.	.	.	.	Likely benign	0	0	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	0.005435	0.000000	0.000000	0.000000	0.003049	0.003788	0.1	1288.14	43	chr17	74372572	.	C	T	1288.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.07;DP=418;ExcessHet=0.2348;FS=6.662;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=1.05;SOR=1.333	GT:AD:DP:GQ:PL	0/1:28,24:52:99:588,0,586	8	0	2	0
chr17	74560754	74560754	C	T	exonic	CD300H	.	nonsynonymous SNV	CD300H:NM_001324073:exon4:c.G553A:p.G185S	.	899	608	12	3	0	18	0.0145867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00599042	.	.	.	.	.	.	.	.	0.0009508	147	154602	rs138914131	0.0078	0.0041	0.0080	0.0076	0.0236	0.0075	0.0074	0.0192	0.0176	0.0018	0.0032	0.0078	0.0005	0.0258	0.0062	0.0067	0.0068	0.0236	0.0064	0.0064	0.0050	0.0078	0.0212	0.0060	0.0059	0.0179	0.0166	0.0009	0	0.0025	0.0078	0.0006	0.0311	0.0068	0.0062	0.0052	0.0212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1379.43	40	chr17	74560754	.	C	T	1379.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=512;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=-0.312;SOR=0.697	GT:AD:DP:GQ:PL	0/1:88,64:152:99:1391,0,1896	9	0	1	0
chr17	74850229	74850229	C	T	exonic	GRIN2C	.	nonsynonymous SNV	GRIN2C:NM_000835:exon6:c.G1468A:p.V490I,GRIN2C:NM_001278553:exon6:c.G1468A:p.V490I	.	393	1103	26	0	0	26	0.0116487	.	.	.	717898	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0018	0.00678914	0.0045	0.0004	0.0017	0	0.0002	0.0024	0.0022	0.0214	0.0039909	617	154602	rs11575879	0.0026	0.0026	0.0021	0.0032	0.0195	0.0026	0.0025	0.0188	0.0184	0.0002	0.0017	0.0055	2.519e-05	0.0001	0.0094	0.0015	0.0038	0.0195	0.0024	0.0024	0.0021	0.0027	0.0222	0.0022	0.0021	0.0188	0.0175	0.0004	0	0.0039	0.0066	0.0002	0.0002	0.0204	0.0021	0.0028	0.0222	0.33	0.13131	T	0.283	0.22084	T	0.012	0.16265	B	0.006	0.12133	B	0.000493	0.43931	D	0.153988	0.866566	0.35484	D	0.46	0.12951	N	0.73	0.50721	T	-0.65	0.18877	N	0.137	0.20129	-1.0197	0.23812	T	0.078	0.31193	T	10	0.010271847	0.00229	T	.	.	.	0.062	0.17934	.	.	0.611931882649	0.60880	0.35387566347811217	0.35301	0.388676200589	0.40129	0.45320802927	0.32382	T	0.122326	0.44591	T	-0.595195	0.00156	T	-0.611476	0.11864	T	0.00969551111577982	0.00127	T	0.872813	0.58002	D	0.04485722	0.07242	0.039610934	0.04095	0.04485722	0.07242	0.039610934	0.04095	-6.864	0.53033	T	.	.	0.066	0.02313	B	.;.	.;.	3.849150	0.55744	23.6	0.96348833222253172	0.29510	0.74886	0.36645	D	AEFDBHCI	0.151619	0.27614	N	-0.257822359323592	0.30791	1.720286	-0.103504293223801	0.35248	2.037063	0.797738837798166	0.24130	0.653496	0.48692	0	0.613122	0.52510	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	4.06	3.09	0.34677	1.861000	0.39078	3.904000	0.40368	0.599000	0.40250	0.965000	0.33920	0.999000	0.35428	0.997000	0.79791	0.1604:0.7485:0.0:0.0911	8.195	0.30550	895	0.25842	Ionotropic glutamate receptor, L-glutamate and glycine-binding domain|Ionotropic glutamate receptor|Ionotropic glutamate receptor, L-glutamate and glycine-binding domain;Ionotropic glutamate receptor, L-glutamate and glycine-binding domain|Ionotropic glutamate receptor|Ionotropic glutamate receptor, L-glutamate and glycine-binding domain	.	.	.	.	.	Likely benign	0	0	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	0.005051	0.004087	0.011696	0.000000	0.008621	0.006098	0.037879	0.05	1728.43	34	chr17	74850229	.	C	T	1728.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.005;DP=521;ExcessHet=0;FS=3.481;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=0.052;SOR=0.481	GT:AD:DP:GQ:PL	0/1:98,79:177:99:1740,0,2299	9	0	1	0
chr17	75502462	75502462	G	A	exonic	CASKIN2	.	nonsynonymous SNV	CASKIN2:NM_001142643:exon17:c.C2366T:p.P789L,CASKIN2:NM_020753:exon18:c.C2612T:p.P871L	.	354	1166	2	0	0	2	0.000856898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.222680938321	.	0.000599042	0.0035	0.0020	0.0011	0	0.0054	0.0050	0	0.0022	0.0005304	82	154602	rs201436052	0.0019	0.0017	0.0020	0.0018	0.0022	0.0018	0.0018	0.0022	0.0021	0.0001	0.0003	5.394e-05	5.756e-05	0.0001	0.0002	0.0022	0.0018	0.0006	0.0010	0.0010	0.0010	0.0010	0.0018	0.0009	0.0008	0.0016	0.0015	0.0004	0	0.0004	0	0	0.0003	0	0.0018	0	0.0008	0.002	0.72154	D	0.002	0.79402	D	0.877	0.48223	P	0.139	0.33484	B	0.000300	0.46274	D	0.000000	1	0.81001	D	2.54	0.74080	M	-0.19	0.65931	T	-6.54	0.92942	D	0.449	0.49237	-0.7031	0.60290	T	0.173	0.51548	T	10	0.010706991	0.00237	T	0.222681	0.87866	D	0.142	0.37995	.	.	0.469615867019	0.46589	0.18695933713731536	0.18613	0.608772754758	0.55638	0.810003399849	0.83492	D	0.346391	0.71466	T	-0.0292388	0.47528	T	-0.279776	0.46827	T	0.0771728384102997	0.09621	T	0.884911	0.65300	D	0.5368682	0.69220	0.50823337	0.71580	0.5368682	0.69221	0.50823337	0.71580	-11.16	0.80544	D	.	.	0.344	0.68342	A	.;.	.;.	4.897622	0.80468	27.3	0.99841904518766633	0.92229	0.88654	0.48684	D	AEFDBI	0.537421	0.55523	D	0.162975515610479	0.49429	3.143339	0.191178196401183	0.49363	3.140339	0.99958973567481	0.40607	0.646311	0.45356	0	0.626922	0.53725	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.87	3.9	0.44240	5.163000	0.64791	9.506000	0.80914	0.513000	0.23382	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0781:0.0:0.9219:0.0	12.969	0.57902	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	0.003122	0.000000	0.002793	0.002959	0.000000	0.000000	0.000000	0.011538	0.05	846.43	50	chr17	75502462	.	G	A	846.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.4;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.038;SOR=0.776	GT:AD:DP:GQ:PL	0/1:34,33:67:99:858,0,711	9	0	1	0
chr17	75522195	75522195	G	A	exonic	TSEN54	.	nonsynonymous SNV	TSEN54:NM_207346:exon8:c.G1114A:p.V372M	Pontocerebellar hypoplasia type 2A, Autosomal recessive;Pontocerebellar hypoplasia type 4, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	169410	Olivopontocerebellar_hypoplasia|Inborn_genetic_diseases|Pontocerebellar_hypoplasia_type_4|Pontocerebellar_hypoplasia_type_2A|Pontocerebellar_hypoplasia_type_5|Pontoneocerebellar_hypoplasia|not_provided	Human_Phenotype_Ontology:HP:0006955,Human_Phenotype_Ontology:HP:0007168,MedGen:C1859341|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009166,MedGen:C1856974,OMIM:225753,Orphanet:166063|MONDO:MONDO:0010190,MedGen:C1848526,OMIM:277470,Orphanet:2524|MONDO:MONDO:0012438,MedGen:C1857762,OMIM:610204,Orphanet:166068|MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.274	0.118195196703	0.0005	.	0.0008	0.0004	0	0	0	0.0010	0	0.0008	0.0003299	51	154602	rs200434678	0.0006	0.0006	0.0005	0.0006	0.0014	0.0005	0.0005	0.0007	0.0005	0.0003	0.0003	0.0002	5.582e-05	0.0004	0.0014	0.0006	0.0007	0.0006	0.0005	0.0005	0.0005	0.0004	0.0007	0.0004	0.0003	0.0006	0.0005	4.811e-05	0	0.0002	0.0006	0.0002	0.0003	0	0.0007	0.0019	0.0006	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.89	0.83701	M	-0.07	0.63738	T	-1.59	0.38345	N	0.752	0.75101	-0.0503	0.81200	T	0.458	0.78935	T	10	0.46890467	0.59741	T	0.118195	0.79817	D	0.274	0.59007	.	.	0.759759855957	0.75757	0.5178459661872079	0.51707	0.916772197932	0.71267	0.510220706463	0.40253	T	0.095302	0.39593	T	-0.13534	0.30636	T	-0.0502145	0.67008	D	0.0725286365497002	0.09002	T	0.90031	0.65351	D	0.37145868	0.58692	0.37359306	0.62543	0.37145868	0.58693	0.37359306	0.62542	-5.083	0.37727	T	0.5609203514789229	0.62870	0.703	0.73074	P	.	.	4.254328	0.64600	24.7	0.96142493142276453	0.28841	0.92706	0.56347	D	AEFBCI	0.747140	0.68929	D	0.756492624111109	0.83330	7.988636	0.705659080762641	0.82810	7.859844	0.999999999995956	0.74766	0.718356	0.82227	0	0.643519	0.57511	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.35	5.35	0.76297	7.089000	0.76571	11.800000	0.96626	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.722000	0.34836	0.0:0.0:1.0:0.0	19.072	0.93128	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	0.005160	0.010526	0.004190	0.005882	0.000000	0.000000	0.009740	0.000000	0.15	4394.43	87	chr17	75522195	.	G	A	4394.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.014;DP=854;ExcessHet=0;FS=2.325;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=27.29;ReadPosRankSum=1.57;SOR=0.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,47:88:99:.:.:1216,0,998:.	8	1	1	0
chr17	75626100	75626100	C	T	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon62:c.C8971T:p.R2991C	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	.	0.000798722	0.0008	0.0018	0	0	0.0023	0.0016	0	0.0001	0.0005239	81	154602	rs75081344	0.0026	0.0023	0.0028	0.0025	0.0038	0.0025	0.0025	0.0036	0.0035	0.0005	0.0004	0.0007	0	0.0035	0.0027	0.0038	0.0025	0.0003	0.0022	0.0022	0.0020	0.0023	0.0035	0.0020	0.0019	0.0032	0.0030	0.0009	0	0.0007	0.0003	0	0.0030	0.0102	0.0035	0.0033	0.0002	.	.	.	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.299	0.33796	-0.6758	0.61566	T	0.408	0.75706	T	8	0.004975587	0.00107	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030608	0.21659	T	.	.	.	.	.	.	.	.	.	0.605339	0.22845	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09675	B	.;.	.;.	1.540784	0.19760	14.42	0.73641456201959177	0.10402	0.00049	0.00384	N	ALL	.	.	.	-1.1626882262665	0.05574	0.2544628	-1.19380420959418	0.06012	0.2881587	0.999999978956456	0.74766	0.653496	0.48692	0	0.550933	0.16991	0	0.440796	0.06475	0	0.683535	0.66460	0	0.10771	0.23274	5.09	1.56	0.22423	0.165000	0.16380	0.873000	0.22330	-0.972000	0.01937	0.000000	0.06391	0.640000	0.25910	0.001000	0.02609	0.3921:0.1547:0.0:0.4532	3.709	0.07942	976	0.04745	FERM domain;FERM 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	.	.	.	.	.	.	.	.	0.05	877.43	34	chr17	75626100	.	C	T	877.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.667;DP=371;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.91;ReadPosRankSum=1.01;SOR=0.869	GT:AD:DP:GQ:PL	0/1:14,35:49:99:889,0,247	9	0	1	0
chr17	75878277	75878277	G	C	exonic	TRIM47	.	nonsynonymous SNV	TRIM47:NM_033452:exon1:c.C272G:p.P91R	.	411	1098	12	1	0	14	0.00633484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	.	0.00698882	0.0556	0.5	.	.	.	0	.	0	0.0004398	68	154602	rs577782968	0.0012	0.0010	0.0012	0.0012	0.0171	0.0011	0.0011	0.0157	0.0151	0.0171	0.0034	0.0110	0	8.509e-05	0.0162	0.0005	0.0038	0.0011	0.0057	0.0057	0.0063	0.0051	0.0167	0.0054	0.0053	0.0157	0.0153	0.0167	0.0011	0.0037	0.0127	0	9.526e-05	0.0342	0.0008	0.0038	0.0004	0.136	0.26085	T	0.034	0.52727	D	0.93	0.51791	P	0.578	0.50118	P	0.050333	0.23081	U	0.219521	1	0.08975	N	1.74	0.45129	L	0.93	0.44065	T	0.48	0.03041	N	0.258	0.29197	-0.8804	0.49730	T	0.092	0.35092	T	10	0.0017648935	0.00023	T	.	.	.	0.054	0.15330	.	.	0.503063991398	0.49945	.	.	2.12493175433	0.95057	0.833705663681	0.87130	D	0.022488	0.17329	T	-0.524503	0.00414	T	-0.511908	0.21119	T	0.0423051338128606	0.04110	T	0.322368	0.06563	T	0.049451187	0.08783	0.1390573	0.33192	0.049451187	0.08782	0.1390573	0.33191	-6.204	0.47955	T	.	.	0.089	0.12228	B	.	.	2.120363	0.26987	17.31	0.98909838452120091	0.48345	0.77563	0.38150	D	AEFDBHCI	0.246767	0.36746	N	-0.066640446153496	0.38862	2.282715	-0.170089722099639	0.32642	1.859201	0.99999962251974	0.74766	0.455138	0.09556	0	0.552344	0.17405	0	0.606884	0.38211	0	0.372554	0.06265	0	.	.	2.37	2.37	0.28337	1.262000	0.32594	0.658000	0.20477	0.484000	0.22197	0.009000	0.18154	0.000000	0.08366	0.047000	0.14932	0.0:0.0:1.0:0.0	8.343	0.31418	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007991	0.007042	0.000000	0.028037	0.000000	0.000000	0.000000	0.000000	0.1	353.14	35	chr17	75878277	.	G	C	353.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.524;DP=267;ExcessHet=0.2348;FS=3.568;InbreedingCoeff=-0.111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=1.11;SOR=1.536	GT:AD:DP:GQ:PL	0/1:14,10:24:99:256,0,361	8	0	2	0
chr17	75921991	75921991	C	T	exonic	FBF1	.	nonsynonymous SNV	FBF1:NM_001319193:exon14:c.G1480A:p.G494R	.	404	1104	13	1	0	15	0.00674764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0008	0.00159744	0.0030	0.0040	0.0073	0	0	0.0040	0.0126	0.0018	0.0006856	106	154602	rs61744136	0.0011	0.0011	0.0010	0.0012	0.0260	0.0011	0.0010	0.0226	0.0213	0.0031	0.0028	0.0115	2.798e-05	6.08e-05	0.0260	0.0006	0.0028	0.0016	0.0015	0.0015	0.0017	0.0013	0.0022	0.0013	0.0013	0.0016	0.0015	0.0019	0.0011	0.0022	0.0124	0	9.418e-05	0.0340	0.0008	0.0014	0.0006	.	.	.	0.367	0.16668	T	0.127	0.26966	B	0.069	0.27757	B	.	.	.	.	1	0.08975	N	1.73	0.44655	L	2.29	0.17113	T	.	.	.	0.075	0.04913	-1.0274	0.21299	T	0.038	0.16203	T	9	0.005048305	0.00109	T	.	.	.	.	.	0.225	0.14960	0.151104730317	0.14643	0.1328563028633864	0.13209	.	.	0.311471223831	0.12129	T	0.024036	0.18239	T	-0.590542	0.00166	T	-0.625352	0.10769	T	0.00954904533907244	0.00124	T	0.716128	0.32863	T	0.042809766	0.06560	0.08133094	0.18473	0.042809766	0.06559	0.08133094	0.18472	-4.674	0.33149	T	.	.	0.109	0.24666	B	.;.;.	.;.;.	1.000004	0.13782	10.33	0.92157115828463076	0.21518	0.07827	0.13821	N	AEFBI	0.035051	0.04446	N	-0.634884174838293	0.17904	0.9252401	-0.656243889262236	0.18059	0.9630712	0.201818496286435	0.18132	0.646311	0.45356	0	0.670034	0.63936	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.6	4.4	0.52402	0.214000	0.17331	2.441000	0.32772	0.599000	0.40250	0.000000	0.06391	0.026000	0.21063	0.008000	0.08271	0.0:0.8541:0.0:0.1459	8.111	0.30072	823	0.40596	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013189	0.005051	0.019366	0.031646	0.000000	0.000000	0.010204	0.004808	0.1	3053.14	33	chr17	75921991	.	C	T	3053.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.036;DP=561;ExcessHet=0.2348;FS=3.325;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.65;SOR=0.787	GT:AD:DP:GQ:PL	0/1:52,59:111:99:1361,0,1326	8	0	2	0
chr17	75978994	75978994	G	A	exonic	ACOX1	.	nonsynonymous SNV	ACOX1:NM_004035:exon1:c.C80T:p.P27L,ACOX1:NM_007292:exon1:c.C80T:p.P27L	Peroxisomal acyl-CoA oxidase deficiency, Autosomal recessive	0	1502	18	2	0	22	0.00727032	.	.	.	237439	not_provided|Acyl-CoA_oxidase_deficiency	MedGen:C3661900|MONDO:MONDO:0009919,MedGen:C1849678,OMIM:264470,Orphanet:2971	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.114	.	0.0072	0.00559105	0.0033	0.0183	0.0051	0	0.0002	0.0018	0.0077	0.0014	0.0030918	478	154602	rs145082938	0.0016	0.0016	0.0016	0.0016	0.0285	0.0016	0.0015	0.0249	0.0235	0.0183	0.0042	0.0114	2.519e-05	7.907e-05	0.0285	0.0006	0.0040	0.0016	0.0063	0.0063	0.0066	0.0060	0.0186	0.0060	0.0059	0.0175	0.0171	0.0186	0.0011	0.0041	0.0127	0	9.409e-05	0.0340	0.0009	0.0057	0.0006	0.09	0.31987	T	0.202	0.28300	T	0.0	0.07471	B	0.002	0.06944	B	0.002795	0.35935	N	0.296932	0.999699	0.81001	D	1.95	0.52479	M	-0.13	0.64818	T	-3.52	0.68412	D	0.168	0.19459	-0.8747	0.50173	T	0.113	0.40377	T	10	0.00561586	0.00125	T	.	.	.	0.114	0.32008	.	.	0.697566865013	0.69495	0.6616722337909623	0.66104	0.659582380596	0.58814	0.479379892349	0.35971	T	0.467308	0.80169	T	-0.463065	0.00941	T	-0.423657	0.30658	T	0.0533136793918528	0.06073	T	0.90211	0.65873	D	0.19369115	0.41090	0.26735798	0.52592	0.20065153	0.42047	0.28335834	0.54328	-3.908	0.28008	T	.	.	0.09	0.17488	B	.;.;.	.;.;.	3.891890	0.56638	23.8	0.99720487541705172	0.81984	0.93706	0.58959	D	ALL	0.542320	0.55811	D	0.0254650949938461	0.43015	2.602847	0.156769912805385	0.47500	2.979432	0.999999999857169	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.74	3.75	0.42236	4.244000	0.58522	6.122000	0.53799	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.151:0.0:0.849:0.0	10.865	0.46054	726	0.54788	.;Acyl-coenzyme A oxidase, N-terminal;Acyl-coenzyme A oxidase, 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	0.019153	0.020202	0.020380	0.052632	0.000000	0.025862	0.006135	0.003788	0.1	1694.14	36	chr17	75978994	.	G	A	1694.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.032;DP=437;ExcessHet=0.2348;FS=0.611;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.979;SOR=0.765	GT:AD:DP:GQ:PL	0/1:27,37:64:99:870,0,593	8	0	2	0
chr17	77209465	77209465	G	T	exonic	SEC14L1	.	nonsynonymous SNV	SEC14L1:NM_001144001:exon12:c.G1498T:p.A500S,SEC14L1:NM_001039573:exon14:c.G1600T:p.A534S,SEC14L1:NM_001143998:exon14:c.G1600T:p.A534S,SEC14L1:NM_001143999:exon14:c.G1600T:p.A534S,SEC14L1:NM_003003:exon14:c.G1600T:p.A534S,SEC14L1:NM_001204408:exon16:c.G1600T:p.A534S,SEC14L1:NM_001204410:exon16:c.G1600T:p.A534S	.	431	1066	25	0	0	25	0.0115902	.	.	.	715736	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.080	.	0.0035	0.00139776	0.0047	0.0004	0.0011	0	0.0031	0.0054	0.0045	0.0100	0.0044243	684	154602	rs143320926	0.0042	0.0042	0.0040	0.0043	0.0106	0.0041	0.0040	0.0100	0.0098	0.0008	0.0010	0.0026	0	0.0039	0.0021	0.0041	0.0036	0.0106	0.0030	0.0030	0.0028	0.0032	0.0085	0.0028	0.0027	0.0064	0.0057	0.0007	0	0.0017	0.0023	0	0.0041	0	0.0045	0.0028	0.0085	0.561	0.06691	T	0.531	0.24621	T	0.036	0.20732	B	0.02	0.19048	B	0.000000	0.84330	D	0.049517	0.999973	0.53665	D	2.6	0.76081	M	1.09	0.39223	T	-0.49	0.15578	N	0.392	0.46368	-1.0772	0.07901	T	0.058	0.24167	T	10	0.008954972	0.00203	T	.	.	.	0.080	0.23350	.	.	0.49530441419	0.49164	0.36858062195665303	0.36772	0.539670562832	0.51191	0.556917905807	0.46832	T	0.02022	0.15960	T	-0.393963	0.02536	T	-0.330716	0.41388	T	0.0287421153837563	0.01798	T	0.790321	0.45571	T	0.15130615	0.34402	0.117334686	0.28325	0.15130615	0.34402	0.117334686	0.28324	-6.096	0.47076	T	.	.	0.073	0.15296	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.138675	0.42441	21.5	0.8701665812032916	0.16930	0.90976	0.52619	D	AEFDBHCI	0.779930	0.71198	D	-0.160721858344382	0.34779	1.989405	0.0170941891234989	0.40509	2.418674	0.999999992349364	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.723	0.93126	0	.	.	5.48	5.48	0.80675	6.196000	0.72018	9.788000	0.81631	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.140000	0.19946	0.0:0.0:0.8421:0.1579	13.318	0.59857	988	0.01987	.;GOLD domain;GOLD domain;GOLD domain;.;.;.;GOLD 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	0.003021	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.015152	0.1	2283.14	34	chr17	77209465	.	G	T	2283.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.215;DP=488;ExcessHet=0.2348;FS=8.046;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.59;SOR=0.351	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1222,0,1363	8	0	2	0
chr17	78835435	78835435	G	A	exonic	USP36	.	nonsynonymous SNV	USP36:NM_001321291:exon4:c.C320T:p.T107M,USP36:NM_001385169:exon4:c.C320T:p.T107M,USP36:NM_001385170:exon4:c.C320T:p.T107M,USP36:NM_001385171:exon4:c.C320T:p.T107M,USP36:NM_001385173:exon4:c.C320T:p.T107M,USP36:NM_001385174:exon4:c.C320T:p.T107M,USP36:NM_001385175:exon4:c.C320T:p.T107M,USP36:NM_001385176:exon4:c.C320T:p.T107M,USP36:NM_001385172:exon5:c.C320T:p.T107M	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00623924118201	0.0004	0.000798722	0.0002	0.0009	9.271e-05	0.0001	0	0.0002	0	0.0002	0.0002005	31	154602	rs201961301	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0004	0.0004	5.974e-05	0.0001	0.0012	0	0	0.0007	0.0001	0.0003	0.0005	0.0003	0.0003	0.0003	0.0002	0.0010	0.0002	0.0002	0.0004	0.0003	0.0006	0	0	0.0014	0	0	0	0.0001	0	0.0010	0.339	0.12754	T	0.071	0.43531	T	0.146	0.27821	B	0.011	0.15521	B	0.889193	0.08699	N	0.954591	1	0.08975	N	0.755	0.19153	N	3.27	0.44065	T	-1.59	0.38345	N	0.094	0.12627	-1.0326	0.19618	T	0.016	0.06329	T	10	0.00952667	0.00215	T	0.006239	0.16376	T	0.062	0.17934	.	.	0.192905019026	0.18896	0.1860797673951094	0.18525	0.0731156517845	0.08196	0.281240135431	0.07665	T	0.010935	0.21121	T	-0.624788	0.00103	T	-0.753273	0.03360	T	0.0133653404700865	0.00241	T	0.451355	0.26965	T	0.010468137	0.00008	0.036085486	0.02986	0.010468137	0.00008	0.036085486	0.02986	-6.571	0.50831	T	.	.	0.061	0.01367	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.116705	0.05149	1.672	0.89442664954442697	0.18801	0.13007	0.17609	N	AEFBCI	0.133776	0.25355	N	-1.51430784601464	0.01755	0.07686498	-1.58451913646094	0.01750	0.07958653	0.999745663472829	0.42466	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.4	-5.67	0.02247	-0.118000	0.10665	0.006000	0.13366	-0.894000	0.02369	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3457:0.0:0.6543:0.0	15.800	0.78223	952	0.10565	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2947.43	36	chr17	78835435	.	G	A	2947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.282;DP=539;ExcessHet=0;FS=1.768;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.725;SOR=0.866	GT:AD:DP:GQ:PL	0/1:86,121:207:99:2959,0,1946	9	0	1	0
chr17	79044105	79044105	C	T	exonic	C1QTNF1	.	nonsynonymous SNV	C1QTNF1:NM_030968:exon2:c.C137T:p.P46L,C1QTNF1:NM_153372:exon2:c.C137T:p.P46L,C1QTNF1:NM_198593:exon2:c.C137T:p.P46L	.	8	1508	6	0	0	6	0.00198544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0316476070791	0.0012	0.000399361	0.0011	0.0002	0.0002	0	0	0.0018	0	0.0004	0.0010026	155	154602	rs145629828	0.0019	0.0019	0.0020	0.0017	0.0023	0.0018	0.0018	0.0022	0.0022	0.0002	0.0003	0.0013	0	5.642e-05	0.0009	0.0023	0.0017	0.0006	0.0009	0.0009	0.0009	0.0010	0.0017	0.0008	0.0008	0.0014	0.0013	0.0002	0	0.0005	0.0014	0	9.407e-05	0	0.0017	0.0005	0.0008	0.266	0.16251	T	0.009	0.66756	D	0.005	0.12996	B	0.003	0.08700	B	0.595490	0.11009	N	0.780906	0.999995	0.08975	N	1.04	0.26193	L	-0.97	0.75670	T	-1.03	0.27052	N	0.096	0.08366	-0.8942	0.48558	T	0.198	0.55386	T	10	0.008351654	0.00189	T	0.031648	0.53678	D	0.090	0.26093	.	.	0.589488658231	0.58623	0.38534338611504604	0.38449	0.292905705012	0.31710	0.368779152632	0.20657	T	0.030712	0.21706	T	-0.509877	0.00503	T	-0.509795	0.21337	T	0.00255998146557581	0.00027	T	0.518148	0.16784	T	0.048267428	0.08386	0.043874234	0.05557	0.048267428	0.08386	0.043874234	0.05557	-3.777	0.20461	T	.	.	0.061	0.01161	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.358935	0.07319	3.929	0.97513558782709897	0.34363	0.00937	0.03624	N	AEFDGBI	0.098711	0.19884	N	-1.02365339569474	0.08114	0.3793611	-1.11117369492956	0.07486	0.3643085	0.302076495514675	0.19199	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	2.99	-0.413	0.11747	-1.023000	0.03718	-2.863000	0.03284	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.125000	0.19370	0.2556:0.438:0.0:0.3063	2.123	0.03503	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	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	699.43	39	chr17	79044105	.	C	T	699.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.05;DP=354;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=0.741;SOR=0.662	GT:AD:DP:GQ:PL	0/1:18,26:44:99:711,0,678	9	0	1	0
chr17	79834749	79834749	G	A	exonic	CBX4	.	nonsynonymous SNV	CBX4:NM_003655:exon5:c.C893T:p.A298V	.	.	.	.	.	.	.	.	.	.	.	2389208	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.0440953993077	7.7e-05	0.000199681	5.864e-05	9.743e-05	8.652e-05	0	0	6.085e-05	0	6.377e-05	5.17e-05	8	154602	rs199853951	2.678e-05	2.805e-05	1.911e-05	3.455e-05	0.0003	2.005e-05	1.76e-05	6.107e-05	2.527e-05	0	2.257e-05	0	0	0	0.0003	2.888e-05	4.99e-05	1.163e-05	2.626e-05	2.624e-05	2.57e-05	2.685e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.406e-05	0	0	0	0	0	0	4.411e-05	0	0	0.111	0.29029	T	0.541	0.09725	T	0.011	0.15914	B	0.008	0.13708	B	0.914834	0.07439	U	1.046320	0.805938	0.29059	N	1.845	0.48678	L	.	.	.	-0.71	0.20145	N	0.125	0.11769	-1.0255	0.21919	T	0.112	0.40099	T	9	0.05150765	0.05044	T	0.044095	0.61317	D	0.082	0.23913	.	.	0.326345978581	0.32251	0.5210267859565084	0.52025	0.797753573997	0.66110	0.603797733784	0.53441	T	0.005306	0.04751	T	-0.209527	0.19445	T	-0.382381	0.35444	T	0.0521045364439487	0.05865	T	0.782022	0.41734	T	0.05765441	0.11502	0.067006044	0.13805	0.05765441	0.11501	0.067006044	0.13805	-4.999	0.36829	T	.	.	0.076	0.05756	B	.	.	1.765669	0.22456	15.63	0.99245164618547044	0.56695	0.67019	0.33282	D	AEFDBHCI	0.326395	0.42768	N	-0.745072104015524	0.14768	0.7384437	-0.743732213730339	0.15876	0.8371709	0.999999999781848	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.666236	0.60216	0	0.508809	0.08732	0	.	.	3.89	3.89	0.44098	2.283000	0.43131	6.431000	0.55633	0.604000	0.46097	0.091000	0.22601	0.997000	0.33255	0.158000	0.20581	0.1052:0.0:0.8948:0.0	9.015	0.35328	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	.	.	.	.	.	.	.	.	0.05	1765.43	35	chr17	79834749	.	G	A	1765.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.795;DP=479;ExcessHet=0;FS=1.428;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.961;SOR=0.551	GT:AD:DP:GQ:PL	0/1:55,76:131:99:1777,0,1277	9	0	1	0
chr17	80184162	80184162	G	A	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_001257970:exon4:c.G599A:p.S200N,CARD14:NM_024110:exon4:c.G599A:p.S200N,CARD14:NM_001366385:exon7:c.G599A:p.S200N	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	0	1494	25	1	2	29	0.00895522	.	.	.	79677	Pityriasis_rubra_pilaris|Psoriasis_2|Autoinflammatory_syndrome|not_provided	MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.019	.	.	0.00219649	0.0110	0.0025	0.0058	0	0.0037	0.0140	0.0190	0.0120	0.0047218	730	154602	rs114688446	0.0076	0.0075	0.0074	0.0077	0.0082	0.0074	0.0074	0.0077	0.0077	0.0009	0.0022	0.0193	0	0.0055	0.0076	0.0079	0.0093	0.0082	0.0059	0.0059	0.0061	0.0058	0.0088	0.0056	0.0055	0.0082	0.0080	0.0012	0.0263	0.0052	0.0141	0	0.0052	0.0136	0.0088	0.0038	0.0075	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.364763	0.13616	N	0.717962	1	0.08975	N	0.025	0.08010	N	1.38	0.34050	T	1.25	0.01011	N	0.044	0.01658	-0.9915	0.32218	T	0.017	0.07092	T	10	0.003829211	0.00072	T	.	.	.	0.019	0.03383	.	.	0.402471007487	0.39861	0.04298658703997481	0.04243	0.137527042465	0.15505	0.439996689558	0.30577	T	0.004751	0.04164	T	-0.738554	0.00021	T	-0.826125	0.01333	T	0.000785814729074534	0.00007	T	0.552145	0.19060	T	0.03255677	0.03305	0.05866523	0.10878	0.039173733	0.05359	0.060511973	0.11535	-6.907	0.54789	T	0.1199088770354703	0.11220	0.097	0.15966	B	.;.;.;.	.;.;.;.	-0.966692	0.00820	0.028	0.19516134826937834	0.00662	0.00717	0.03025	N	AEFDBI	0.032680	0.03735	N	-1.67117466872922	0.00949	0.04110583	-1.68207961245203	0.01218	0.0548863	0.0168506280012361	0.12881	0.549168	0.22868	0	0.627178	0.54094	0	0.505578	0.09266	0	0.542086	0.14980	0	.	.	3.58	-3.66	0.04200	-0.279000	0.08512	-0.062000	0.12412	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.5403:0.1435:0.3162:0.0	5.853	0.17952	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	1	0	.	.	.	.	.	.	.	.	0.05	2210.43	33	chr17	80184162	.	G	A	2210.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.928;DP=560;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=-1.275;SOR=0.664	GT:AD:DP:GQ:PL	0/1:131,101:232:99:2222,0,3281	9	0	1	0
chr17	82253179	82253179	G	C	exonic	CSNK1D	.	nonsynonymous SNV	CSNK1D:NM_001363749:exon4:c.C402G:p.F134L,CSNK1D:NM_001893:exon4:c.C402G:p.F134L,CSNK1D:NM_139062:exon4:c.C402G:p.F134L	Advanced sleep-phase syndrome, familial, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.294920260008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.976	0.74843	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.075	0.57047	M	0.05	0.61923	T	-5.77	0.87911	D	0.856	0.86191	-0.2906	0.75249	T	0.378	0.73572	T	10	0.8558959	0.84786	D	0.29492	0.90689	D	0.585	0.83360	0.713	0.84872	0.794112205518	0.79219	0.8391474319513283	0.83874	2.45932965126	0.97411	0.943554639816	0.99578	D	0.463857	0.79964	T	0.245163	0.78146	D	0.114383	0.77862	D	0.996541440486908	0.89565	D	0.972453	0.90829	D	0.9611103	0.97392	0.90685	0.95464	0.9611103	0.97392	0.90685	0.95465	-13.686	0.91992	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.476840	0.48528	22.6	0.94285568772606809	0.24584	0.90166	0.51131	D	AEFDGBHCI	0.511037	0.53983	D	-0.0133870369408241	0.41248	2.46393	-0.161674069915806	0.32961	1.880536	0.999992497670314	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.55	-2.31	0.06380	1.140000	0.31128	1.624000	0.27703	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.285:0.0:0.715:0.0	14.272	0.65705	.	.	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	75.4	40	chr17	82253179	.	G	C	75.4	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.094;DP=1337;ExcessHet=0;FS=177.423;InbreedingCoeff=-0.1786;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.95;SOR=9.346	GT:AD:DP:GQ:PL	0/1:170,46:219:84:84,0,2813	5	0	1	4
chr18	5419733	5419733	G	A	exonic	EPB41L3	.	nonsynonymous SNV	EPB41L3:NM_001281533:exon12:c.C1538T:p.S513L,EPB41L3:NM_001281534:exon12:c.C1538T:p.S513L,EPB41L3:NM_001330557:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384682:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384683:exon12:c.C1211T:p.S404L,EPB41L3:NM_001384684:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384685:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384686:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384687:exon12:c.C1484T:p.S495L,EPB41L3:NM_001384688:exon12:c.C1484T:p.S495L,EPB41L3:NM_001384689:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384690:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384691:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384692:exon12:c.C1484T:p.S495L,EPB41L3:NM_001384693:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384694:exon12:c.C1484T:p.S495L,EPB41L3:NM_001384695:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384696:exon12:c.C1484T:p.S495L,EPB41L3:NM_001384697:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384698:exon12:c.C1211T:p.S404L,EPB41L3:NM_001384699:exon12:c.C1211T:p.S404L,EPB41L3:NM_001384700:exon12:c.C1157T:p.S386L,EPB41L3:NM_001384701:exon12:c.C1211T:p.S404L,EPB41L3:NM_001384702:exon12:c.C1157T:p.S386L,EPB41L3:NM_001384703:exon12:c.C1211T:p.S404L,EPB41L3:NM_001384704:exon12:c.C1211T:p.S404L,EPB41L3:NM_001384705:exon12:c.C1157T:p.S386L,EPB41L3:NM_001384706:exon12:c.C1157T:p.S386L,EPB41L3:NM_012307:exon12:c.C1484T:p.S495L,EPB41L3:NM_001281535:exon14:c.C1211T:p.S404L	.	415	1105	2	0	0	2	0.000904159	.	.	.	3242202	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0559610711732	.	.	9.886e-05	9.61e-05	0	0	0	0.0001	0	0.0001	7.76e-05	12	154602	rs769159490	9.372e-05	9.371e-05	9.801e-05	8.938e-05	0.0014	8.092e-05	7.584e-05	0.0007	0.0005	0	2.236e-05	0	0	0	0.0014	9.083e-05	0.0002	0.0002	8.537e-05	8.53e-05	0.0001	6.716e-05	0.0004	4.954e-05	3.96e-05	7.296e-05	3.031e-05	7.217e-05	0	6.538e-05	0	0	0	0	7.351e-05	0.0009	0.0004	0.144	0.25255	T	0.371	0.27591	T	0.242	0.30930	B	0.022	0.19653	B	0.655275	0.10476	N	0.832580	0.997123	0.43648	D	1.59	0.40313	L	-1.63	0.82806	D	-1.05	0.35399	N	0.163	0.20395	0.364	0.88555	D	0.793	0.92973	D	10	0.110667974	0.20693	T	0.055961	0.66430	D	0.165	0.42395	.	.	0.915881041614	0.91503	0.19745220438870198	0.19662	0.139515389065	0.15724	0.332229316235	0.15271	T	0.177955	0.52843	T	-0.151785	0.28031	T	-0.163657	0.58022	T	0.0299825128167868	0.01987	T	0.921108	0.79443	D	0.028340364	0.02157	0.04473158	0.05862	0.028340364	0.02156	0.04473158	0.05862	-11.748	0.85122	D	.	.	0.071	0.19154	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.081525	0.60724	24.3	0.99483109656543145	0.67014	0.72001	0.35259	D	AEFBI	0.604491	0.59557	D	-0.3728509769995	0.26440	1.443034	-0.284790810522542	0.28599	1.595829	0.999950016724267	0.48110	0.706548	0.73137	0	0.563428	0.19063	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.61	3.81	0.43020	4.988000	0.63592	6.587000	0.56014	0.676000	0.76740	0.833000	0.30177	0.998000	0.33993	0.794000	0.37478	0.1398:0.0:0.8602:0.0	12.059	0.52850	828	0.39726	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	1413.43	37	chr18	5419733	.	G	A	1413.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.123;DP=344;ExcessHet=0;FS=5.797;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=19.91;ReadPosRankSum=-0.746;SOR=0.249	GT:AD:DP:GQ:PL	1/1:0,29:29:87:914,87,0	8	1	1	0
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T,PTPN2:NM_002828:exon7:c.G826A:p.A276T,PTPN2:NM_080422:exon7:c.G826A:p.A276T,PTPN2:NM_080423:exon7:c.G826A:p.A276T,PTPN2:NM_001207013:exon8:c.G895A:p.A299T	.	.	.	.	.	.	.	.	.	.	.	3585126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	461.14	36	chr18	12814235	.	C	T	461.14	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-1.277;DP=363;ExcessHet=4.5998;FS=156.993;InbreedingCoeff=-0.5318;MLEAC=7;MLEAF=0.389;MQ=59.96;MQRankSum=0;QD=1.97;ReadPosRankSum=0.222;SOR=8.425	GT:AD:DP:GQ:PL	0/1:18,10:28:58:58,0,285	3	0	6	1
chr18	13038493	13038493	A	G	exonic	CEP192	.	nonsynonymous SNV	CEP192:NM_032142:exon13:c.A1723G:p.S575G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.0122542630251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.22	0.07024	T	-2.05	0.47008	N	0.359	0.40063	-1.1592	0.00776	T	0.039	0.16677	T	9	0.36364126	0.52929	T	0.012254	0.30654	T	0.146	0.38789	0.272	0.22210	0.608522253762	0.60537	0.3917286154356826	0.39087	0.407279978005	0.41592	0.411654949188	0.26685	T	.	.	.	-0.17705	0.24176	T	-0.492096	0.23171	T	0.948224744946995	0.62849	D	0.757524	0.38090	T	0.3152734	0.54239	0.45974377	0.68618	0.3152734	0.54239	0.45974377	0.68618	-4.011	0.23968	T	.	.	0.193	0.41249	B	.	.	4.218363	0.63779	24.6	0.99847477494363823	0.92750	0.97138	0.72912	D	AEFBI	0.758444	0.69709	D	0.572559862292926	0.71465	5.655126	0.606092758664596	0.75383	6.300584	0.999999923883597	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.3	5.3	0.74745	6.608000	0.74043	7.815000	0.69558	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.506	0.67338	492	0.76569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1846.43	35	chr18	13038493	.	A	G	1846.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.49;DP=529;ExcessHet=0;FS=2.427;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=-1.374;SOR=0.698	GT:AD:DP:GQ:PL	0/1:116,88:204:99:1858,0,2536	9	0	1	0
chr18	20969173	20969173	A	C	exonic	ROCK1	.	nonsynonymous SNV	ROCK1:NM_005406:exon24:c.T2856G:p.I952M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00215237523393	.	.	8.307e-06	0	8.721e-05	0	0	0	0	0	6.5e-06	1	154602	rs745320980	4.133e-06	4.104e-06	1.372e-06	6.917e-06	0.0003	1.49e-06	9.8e-07	6.111e-05	2.528e-05	0	0	0	0	0	0.0003	0	0	4.643e-05	6.569e-06	6.564e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.144	0.25255	T	0.351	0.17425	T	0.019	0.17989	B	0.027	0.21085	B	0.018354	0.27503	N	0.392038	0.922108	0.27268	N	1.32	0.33002	L	2.48	0.14657	T	-0.98	0.25986	N	0.098	0.07949	-1.0631	0.10997	T	0.028	0.11971	T	10	0.063587666	0.08306	T	0.002152	0.04016	T	0.065	0.18881	0.382	0.39970	0.143184338766	0.13958	0.17008099268667182	0.16928	0.482400438877	0.47204	0.288331151009	0.08680	T	0.139733	0.47390	T	-0.472345	0.00822	T	-0.734739	0.04116	T	0.0480846527385701	0.05159	T	0.660634	0.26999	T	0.1821303	0.39416	0.14830372	0.35061	0.1821303	0.39416	0.14830372	0.35060	-5.298	0.39923	T	.	.	0.093	0.13969	B	.	.	1.929537	0.24505	16.42	0.71156537243256524	0.09534	0.82233	0.41492	D	AEFBI	0.163693	0.29000	N	-0.766453732786692	0.14190	0.7048887	-0.612595814970905	0.19170	1.027311	0.99993611919707	0.46732	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.25	4.1	0.47196	0.367000	0.20116	2.061000	0.30394	-0.059000	0.16651	0.984000	0.35821	0.986000	0.30841	0.975000	0.56047	0.7608:0.2392:0.0:0.0	13.705	0.62113	556	0.71678	Rho binding 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	.	.	.	.	.	.	.	.	0.05	936.43	33	chr18	20969173	.	A	C	936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.561;DP=384;ExcessHet=0;FS=1.013;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=0.028;SOR=0.477	GT:AD:DP:GQ:PL	0/1:22,42:64:99:948,0,518	9	0	1	0
chr18	21495727	21495727	G	A	exonic	GREB1L	.	nonsynonymous SNV	GREB1L:NM_001142966:exon20:c.G3088A:p.G1030S	.	.	.	.	.	.	.	.	.	.	.	3131632	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.600	0.160334888851	.	.	4.594e-05	0	0.0025	0	0	0	0	0	6.5e-06	1	154602	rs199956733	1.505e-05	1.71e-05	1.414e-05	1.598e-05	0.0002	9.67e-06	8.21e-06	4.08e-05	2.864e-05	3.178e-05	0	0	0	0	0.0002	8.36e-06	5.181e-05	8.876e-05	1.315e-05	1.313e-05	0	2.692e-05	0.0002	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	0	0	0.0002	0.013	0.53900	D	0.041	0.50514	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.000000	1	0.81001	D	2.175	0.60977	M	-0.78	0.73631	T	-4.38	0.77143	D	0.662	0.76111	0.212	0.86116	D	0.596	0.85596	D	10	0.2079092	0.37103	T	0.160335	0.84036	D	0.600	0.84183	0.332	0.31843	0.389126455913	0.38528	0.9436587044106117	0.94347	.	.	0.711199581623	0.68767	T	0.062051	0.31814	T	0.0572816	0.59270	T	0.0811731	0.75657	D	0.941144049167633	0.61412	D	0.965603	0.87267	D	0.5020853	0.67217	0.47366562	0.69492	0.5020853	0.67218	0.47366562	0.69493	-7.517	0.62539	D	0.6064690274456255	0.67378	0.164	0.40952	B	.;.;.	.;.;.	5.197752	0.87191	29.2	0.99883817309093414	0.95970	0.98989	0.89614	D	AEFBI	0.924448	0.90249	D	0.889334241782328	0.91227	10.77819	0.864085859988811	0.93812	12.29715	0.999999999996487	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.42	5.42	0.78666	9.602000	0.97623	11.793000	0.96431	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	19.244	0.93880	399	0.82780	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	564.43	33	chr18	21495727	.	G	A	564.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.168;DP=353;ExcessHet=0;FS=4.365;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.875;SOR=0.937	GT:AD:DP:GQ:PL	0/1:21,22:43:99:576,0,542	9	0	1	0
chr18	27142808	27142808	A	G	exonic	CHST9	.	startloss	CHST9:NM_001256316:exon2:c.T2C:p.M1?,CHST9:NM_031422:exon2:c.T2C:p.M1?	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0400831746227	.	.	4.15e-05	0	8.643e-05	0	0	1.501e-05	0	0.0002	4.53e-05	7	154602	rs751680562	8.305e-05	8.414e-05	8.804e-05	7.8e-05	0.0005	7.084e-05	6.629e-05	0.0002	0.0001	0	2.459e-05	0	0	0	0.0005	7.952e-05	0.0001	0.0003	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	0.0	0.92824	D	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	0.999942	0.19238	N	.	.	.	-0.18	0.65747	T	.	.	.	0.144	0.34228	-0.9432	0.42105	T	0.146	0.47074	T	8	0.6638545	0.70311	D	0.040083	0.59179	D	.	.	0.994	0.99935	0.798783965399	0.79691	0.5047316998995238	0.50395	.	.	.	.	.	0.091616	0.38833	T	-0.327718	0.06285	T	-0.416372	0.31492	T	0.213430689818649	0.21131	T	0.9	0.65058	D	0.62473595	0.74016	0.37634304	0.62759	0.62473595	0.74018	0.37634304	0.62758	-5.648	0.60551	T	.	.	.	.	.	.;.;.	.;.;.	2.236696	0.28556	17.84	0.97250674760076627	0.33043	0.54532	0.29639	D	AEFBI	0.029333	0.02749	N	-0.338144743300314	0.27711	1.522535	-0.229516509533909	0.30483	1.71676	0.999719863611714	0.42101	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.35	1.61	0.22752	1.037000	0.29850	1.433000	0.26463	0.691000	0.84096	0.997000	0.40164	0.001000	0.17328	0.934000	0.47231	0.6617:0.1626:0.1757:0.0	4.686	0.12138	974	0.05496	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	684.43	33	chr18	27142808	.	A	G	684.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.437;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.305;SOR=0.601	GT:AD:DP:GQ:PL	0/1:27,34:61:99:696,0,629	9	0	1	0
chr18	31131742	31131742	A	G	exonic	DSC1	.	nonsynonymous SNV	DSC1:NM_004948:exon15:c.T2339C:p.F780S,DSC1:NM_024421:exon15:c.T2339C:p.F780S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.0604204666885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.009	0.66756	D	1.0	0.90584	D	0.999	0.92359	D	0.000040	0.55875	D	0.000000	0.966955	0.38619	D	1.87	0.49600	L	0.46	0.56281	T	-4.29	0.76414	D	0.711	0.76019	-0.6058	0.64577	T	0.248	0.61693	T	10	0.7708557	0.77070	D	0.06042	0.67996	D	0.315	0.63694	0.521	0.62368	0.865298002018	0.86399	0.5791395874192566	0.57842	0.507237118892	0.48910	0.615261971951	0.55059	T	0.120216	0.44230	T	0.0650316	0.60238	T	-0.144363	0.59738	T	0.996919870376587	0.90354	D	0.916508	0.70155	D	0.46277747	0.64844	0.5793416	0.75620	0.46277747	0.64844	0.5793416	0.75621	-2.787	0.08064	T	.	.	0.526	0.68114	A	.;.	.;.	4.769460	0.77191	26.7	0.99871843139046357	0.94902	0.97281	0.73769	D	AEFI	0.560723	0.56901	D	0.564761994017948	0.70986	5.582666	0.556527348876073	0.71851	5.71851	0.273073457351517	0.18912	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	4.76	0.60189	6.030000	0.70548	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8026:0.1301:0.0674:0.0	8.569	0.32719	710	0.56735	.;Cadherin, cytoplasmic 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	.	.	.	.	.	.	.	.	0.05	2123.43	43	chr18	31131742	.	A	G	2123.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=584;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-2.274;SOR=0.719	GT:AD:DP:GQ:PL	0/1:105,88:193:99:2135,0,2536	9	0	1	0
chr18	31403566	31403566	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon11:c.C1568T:p.P523L,DSG4:NM_177986:exon11:c.C1568T:p.P523L	Hypotrichosis 6, Autosomal recessive	2	1440	77	3	0	83	0.0280121	.	.	.	237228	not_provided|Hypotrichosis_6	MedGen:C3661900|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.436	.	0.0073	0.00798722	0.0086	0.0009	0.0049	0.0001	0.0014	0.0090	0.0099	0.0219	0.0083893	1297	154602	rs34620697	0.0073	0.0073	0.0067	0.0079	0.0193	0.0072	0.0071	0.0185	0.0182	0.0008	0.0053	0.0099	5.039e-05	0.0020	0.0180	0.0070	0.0083	0.0193	0.0054	0.0054	0.0055	0.0053	0.0197	0.0051	0.0050	0.0165	0.0153	0.0011	0.0154	0.0056	0.0101	0.0002	0.0012	0.0068	0.0077	0.0057	0.0197	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.92359	D	0.003957	0.34294	N	0.000000	1	0.81001	D	3.7	0.94612	H	-0.01	0.62762	T	-7.66	0.95511	D	0.672	0.67995	-0.0615	0.80961	T	0.425	0.76890	T	10	0.0106598735	0.00236	T	.	.	.	0.436	0.74093	.	.	0.927137678208	0.92639	0.652556277191424	0.65191	0.248225803681	0.27384	0.45504295826	0.32633	T	0.624655	0.88286	D	-0.2795	0.10720	T	-0.158002	0.58531	T	0.0894284915205194	0.11150	T	0.851115	0.53499	D	0.43418938	0.63025	0.5285101	0.72758	0.46111244	0.64740	0.5285101	0.72759	-7.308	0.56253	T	.	.	0.417	0.60533	A	.;.	.;.	4.483836	0.69979	25.5	0.99870903935111033	0.94815	0.88443	0.48373	D	AEFGBHCIJ	0.497987	0.53228	N	0.794065608974443	0.85734	8.665106	0.729373834982191	0.84610	8.339843	0.999999999997648	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.01	6.01	0.97420	4.117000	0.57623	5.930000	0.51304	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.287000	0.24188	0.0:1.0:0.0:0.0	20.125	0.97974	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.010101	0.009511	0.000000	0.000000	0.008621	0.018293	0.041667	0.15	4496.45	135	chr18	31403566	.	C	T	4496.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.43;DP=690;ExcessHet=0.7463;FS=1.778;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.474;SOR=0.851	GT:AD:DP:GQ:PL	0/1:84,68:152:99:1475,0,1854	7	0	3	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	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	.	.	.	.	.	.	.	.	0.4375	1362.11	52	chr18	31541297	.	G	A	1362.11	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-0.721;DP=562;ExcessHet=7.0302;FS=370.853;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.35;ReadPosRankSum=1.53;SOR=10.577	GT:AD:DP:GQ:PL	0/1:39,24:63:99:159,0,499	1	0	7	2
chr18	36625617	36625617	G	A	exonic	FHOD3	.	nonsynonymous SNV	FHOD3:NM_001281739:exon10:c.G1064A:p.R355Q,FHOD3:NM_001281740:exon10:c.G1064A:p.R355Q,FHOD3:NM_025135:exon10:c.G1064A:p.R355Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00465162762275	.	0.000199681	0.0003	0	8.663e-05	0	0	0	0	0.0024	0.0002652	41	154602	rs561334570	0.0001	0.0002	8.141e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0.0002	9.106e-06	8.449e-05	0.0023	4.596e-05	4.593e-05	1.285e-05	8.056e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	6.532e-05	0	0	0	0	0	0	0.0012	0.435	0.09401	T	0.244	0.30534	T	0.003	0.13644	B	0.003	0.10090	B	0.002746	0.36001	N	0.269957	0.541281	0.32056	D	1.37	0.34214	L	1.43	0.33842	T	-0.44	0.16598	N	0.17	0.24883	-1.0495	0.14537	T	0.051	0.21572	T	10	0.009750605	0.00219	T	0.004652	0.11534	T	0.063	0.18251	0.46	0.52753	0.0675242888579	0.06100	0.26077761781650166	0.25991	0.186722640128	0.20978	0.23260769248	0.02167	T	0.006197	0.05637	T	-0.380702	0.03085	T	-0.325177	0.42005	T	0.0553591810923854	0.06418	T	0.89721	0.65830	D	0.022878155	0.00983	0.028030286	0.01002	0.022878155	0.00982	0.028030286	0.01002	-4.42	0.39205	T	.	.	0.066	0.03661	B	.;.;.	.;.;.	1.967460	0.24995	16.60	0.99660505941585698	0.77883	0.79822	0.39631	D	AEFBI	0.133685	0.25343	N	-0.495957021488548	0.22212	1.184483	-0.444238626475743	0.23712	1.294603	0.995282927097734	0.34045	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.28	1.14	0.19817	1.975000	0.40192	1.769000	0.28618	-0.107000	0.15377	1.000000	0.71638	0.999000	0.35428	0.335000	0.25317	0.33:0.173:0.497:0.0	4.072	0.09361	832	0.38914	.;.;Rho GTPase-binding/formin homology 3 (GBD/FH3) 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	.	.	.	.	.	.	.	.	0.05	1189.43	41	chr18	36625617	.	G	A	1189.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.13;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=2.1;SOR=0.686	GT:AD:DP:GQ:PL	0/1:52,42:94:99:1201,0,1329	9	0	1	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R,KIAA1328:NM_001353919:exon6:c.T559C:p.C187R,KIAA1328:NM_001353918:exon7:c.T871C:p.C291R,KIAA1328:NM_020776:exon7:c.T883C:p.C295R,KIAA1328:NM_001353920:exon8:c.T31C:p.C11R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0248307524252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.317	0.70582	T	0.002	0.54977	B	0.003	0.49647	B	0.066107	0.21833	N	0.492799	0.999991	0.18198	N	1.895	0.50365	L	0.96	0.42888	T	-2.89	0.60665	D	0.217	0.34228	-1.0429	0.16443	T	0.086	0.33550	T	10	0.095427215	0.17043	T	0.024831	0.47815	T	0.028	0.06331	0.277	0.23004	0.151104730317	0.14643	0.12560051005708286	0.12486	0.260958981567	0.28653	0.343422293663	0.16949	T	0.074489	0.34951	T	-0.234135	0.16106	T	-0.574095	0.15076	T	0.15222541987896	0.17279	T	0.674733	0.29555	T	0.25123864	0.48131	0.18567732	0.41694	0.25123864	0.48131	0.18567732	0.41693	-2.248	0.04280	T	.	.	0.146	0.40392	B	.;.;.;.;.	.;.;.;.;.	1.448914	0.18694	13.88	0.56740053966158088	0.05617	0.66923	0.33248	D	AEFGI	0.168829	0.29561	N	-0.727595758614455	0.15249	0.7668366	-0.728904545204197	0.16243	0.8583232	4.57563750617174E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	0.957	0.18736	1.298000	0.33017	0.476000	0.18759	-0.169000	0.11342	0.930000	0.32276	0.856000	0.27440	0.032000	0.13371	0.1242:0.1328:0.13:0.613	2.399	0.04129	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	558.45	33	chr18	37067196	.	T	C	558.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-6.944;DP=1078;ExcessHet=0.7463;FS=174.631;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.72;ReadPosRankSum=1.47;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:213,59:272:99:.:.:193,0,4413:.	7	0	3	0
chr18	49962319	49962319	C	G	exonic	MYO5B	.	nonsynonymous SNV	MYO5B:NM_001080467:exon12:c.G1492C:p.D498H	Microvillus inclusion disease, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.796	0.114853419778	.	.	8.283e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs200175136	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.051	0.47828	T	0.987	0.61912	D	0.856	0.61001	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.47	0.71715	M	-2.67	0.90332	D	-4.65	0.79399	D	0.812	0.80767	0.957	0.96495	D	0.873	0.95779	D	10	0.9055432	0.89918	D	0.114853	0.79385	D	0.796	0.93306	0.749	0.87988	0.960864856233	0.96044	0.7907087408859507	0.79022	0.701343491077	0.61143	0.837810695171	0.87760	D	0.812171	0.95318	D	0.407216	0.90327	D	0.347161	0.90205	D	0.975379288196564	0.70906	D	0.90391	0.66280	D	0.8933113	0.90793	0.84521174	0.91184	0.8933113	0.90794	0.84521174	0.91184	-12.985	0.89302	D	0.7044267611928188	0.78383	0.746	0.74896	P	.	.	4.971387	0.82278	27.7	0.99557002112526738	0.71521	0.93835	0.59328	D	AEFGBI	0.719100	0.67009	D	0.657582752391225	0.76862	6.564988	0.624285382013282	0.76708	6.541034	0.999999816573192	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.58	5.58	0.84361	2.186000	0.42224	5.984000	0.52218	0.599000	0.40250	0.952000	0.33172	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.173	0.93571	953	0.10115	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class V myosin, 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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1227.43	34	chr18	49962319	.	C	G	1227.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=438;ExcessHet=0;FS=3.551;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.218;SOR=0.762	GT:AD:DP:GQ:PL	0/1:55,53:108:99:1239,0,1180	9	0	1	0
chr18	50729657	50729657	C	T	exonic	MAPK4	.	nonsynonymous SNV	MAPK4:NM_001292039:exon5:c.C934T:p.P312S,MAPK4:NM_002747:exon6:c.C1567T:p.P523S	.	368	1152	2	0	0	2	0.000867303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0769248881832	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1261055141	7.298e-06	7.525e-06	7.2e-06	7.4e-06	0.0007	3.69e-06	2.69e-06	0.0002	0.0001	0	0	0	0	0	0.0007	0	0	8.001e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21467	T	0.159	0.31527	T	0.004	0.12183	B	0.003	0.08700	B	0.729747	0.09865	U	0.805472	0.999981	0.24005	N	0.345	0.11182	N	-0.47	0.70133	T	0.17	0.05810	N	0.088	0.16028	-0.9777	0.35526	T	0.146	0.47111	T	10	0.078787506	0.12599	T	0.076925	0.72647	D	0.061	0.17616	0.14	0.04369	0.651728555758	0.64883	0.28378989775089536	0.28291	0.598347336993	0.55009	0.529507696629	0.42964	T	0.010642	0.09586	T	-0.257883	0.13150	T	-0.466673	0.25875	T	0.0609492796593152	0.07318	T	0.483852	0.14720	T	0.044144493	0.07004	0.041486688	0.04725	0.044144493	0.07003	0.041486688	0.04724	-3.433	0.15504	T	.	.	0.067	0.03372	B	.;.	.;.	1.691932	0.21554	15.25	0.67964079602389016	0.08513	0.85605	0.44755	D	AEFDBI	0.196546	0.32351	N	-0.699736918773551	0.16030	0.8131146	-0.620997432857088	0.18954	1.014857	0.0162486238041506	0.12809	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	4.97	3.17	0.35510	2.781000	0.47437	0.951000	0.22923	0.520000	0.23804	0.987000	0.36337	0.001000	0.17328	0.023000	0.12082	0.156:0.6099:0.1509:0.0833	4.691	0.12163	734	0.53889	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001073	0.000000	0.002941	0.003086	0.000000	0.000000	0.000000	0.000000	0.05	1272.43	36	chr18	50729657	.	C	T	1272.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.373;DP=389;ExcessHet=0;FS=2.145;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.67;ReadPosRankSum=0.55;SOR=0.438	GT:AD:DP:GQ:PL	0/1:23,49:72:99:1284,0,467	9	0	1	0
chr18	63656931	63656931	G	C	exonic	SERPINB3	.	nonsynonymous SNV	SERPINB3:NM_006919:exon7:c.C668G:p.S223W	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.0778688777569	.	.	3.306e-05	0	0	0	0	6.007e-05	0	0	2.59e-05	4	154602	rs151099886	2.738e-06	2.736e-06	2.724e-06	2.752e-06	0.0002	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.699e-06	0	0	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.05	0.39575	D	0.069	0.43913	T	0.896	0.49324	P	0.696	0.54017	P	0.815809	0.09216	N	0.887814	1	0.08975	N	2.425	0.70256	M	-1.9	0.84628	D	-1.48	0.36189	N	0.399	0.43995	-0.3906	0.72323	T	0.535	0.82815	D	10	0.4725989	0.59953	T	0.077869	0.72872	D	0.399	0.71321	0.674	0.81200	0.523444149082	0.51990	0.720060882845045	0.71949	0.153926028674	0.17371	0.264727532864	0.05467	T	0.147116	0.48505	T	-0.166844	0.25713	T	-0.346985	0.39549	T	0.350385278463364	0.27034	T	0.281772	0.04941	T	0.20792913	0.43013	0.16698062	0.38547	0.20792913	0.43013	0.16698062	0.38546	-6.377	0.49330	T	.	.	0.192	0.41078	B	.	.	0.180341	0.05678	2.127	0.93619564988064286	0.23487	0.03756	0.09064	N	AEFGCI	0.072671	0.14510	N	-0.92029509825457	0.10368	0.4951152	-1.25235199752494	0.05096	0.2420187	6.1420941389491E-4	0.07460	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.64	-5.29	0.02535	-3.376000	0.00546	-4.461000	0.02144	-0.353000	0.05553	0.000000	0.06391	0.000000	0.08366	0.389000	0.26536	0.3088:0.1219:0.3277:0.2416	0.977	0.01337	966	0.07191	Serpin domain|Serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2114.43	39	chr18	63656931	.	G	C	2114.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.05;DP=508;ExcessHet=0;FS=6.231;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-1.048;SOR=1.023	GT:AD:DP:GQ:PL	0/1:88,95:183:99:2126,0,1874	9	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	.	.	.	.	.	.	.	.	0.4444	1077.5	85	chr18	65824683	.	C	G	1077.5	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.26;DP=852;ExcessHet=10.3881;FS=190.814;InbreedingCoeff=-0.7227;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=1.05;SOR=10.452	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,21:74:99:0|1:65824683_C_G:136,0,1105:65824683	1	0	8	1
chr18	75286467	75286467	C	T	exonic	TSHZ1	.	nonsynonymous SNV	TSHZ1:NM_001308210:exon2:c.C1060T:p.R354W,TSHZ1:NM_005786:exon2:c.C925T:p.R309W	Aural atresia, congenital, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0625543740935	0.0003	.	0.0002	0.0005	0	0	0	1.501e-05	0.0011	0.0009	0.0001488	23	154602	rs144240769	6.02e-05	6.02e-05	4.22e-05	7.838e-05	0.0005	4.961e-05	4.626e-05	0.0003	0.0003	0.0002	2.236e-05	0	0	0	0	3.417e-05	3.311e-05	0.0005	0.0001	0.0001	0.0001	0.0001	0.0004	8.656e-05	7.25e-05	0.0001	0.0001	0.0003	0	6.531e-05	0	0.0004	0	0	7.35e-05	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.965	0.71173	D	0.000001	0.84330	D	0.000000	0.998694	0.46578	D	2.42	0.70002	M	2.26	0.20959	T	-5.4	0.85103	D	0.755	0.78546	-0.9896	0.32702	T	0.105	0.38440	T	10	0.5162336	0.62382	D	0.062554	0.68689	D	0.203	0.48915	.	.	0.453878812622	0.45013	0.5435145822723325	0.54277	1.10781785835	0.77950	0.796907544136	0.81492	T	0.696746	0.91231	D	-0.214373	0.18768	T	-0.202977	0.54363	T	0.262787222862244	0.23436	T	0.979502	0.92959	D	0.34166765	0.56412	0.18347879	0.41340	0.32285425	0.54879	0.2015713	0.44142	-15.141	0.96210	D	.	.	0.438	0.61597	A	.;.	.;.	4.122307	0.61622	24.4	0.91139019926326759	0.20392	0.97183	0.73178	D	AEFDBI	0.696618	0.65490	D	0.622048510773033	0.74571	6.155322	0.56837924072822	0.72684	5.849063	0.999999044917681	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.27	3.34	0.37357	3.040000	0.49489	1.392000	0.26124	-0.223000	0.07921	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.4226:0.5774:0.0:0.0	12.806	0.56997	1000	0.00083	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2120.43	67	chr18	75286467	.	C	T	2120.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2;DP=729;ExcessHet=0;FS=0.623;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-0.255;SOR=0.611	GT:AD:DP:GQ:PL	0/1:65,80:145:99:2132,0,1438	9	0	1	0
chr18	79096627	79096627	G	C	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon2:c.G271C:p.G91R,ATP9B:NM_198531:exon2:c.G271C:p.G91R	.	436	1075	11	0	0	11	0.00509024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	.	0.0053	0.00279553	0.0036	0.0005	0.0045	0.0001	0.0010	0.0053	0.0024	0.0013	0.003564	551	154602	rs144519079	0.0046	0.0046	0.0048	0.0045	0.0054	0.0045	0.0045	0.0052	0.0051	0.0006	0.0054	0.0067	0	0.0008	0.0052	0.0053	0.0049	0.0010	0.0037	0.0037	0.0038	0.0036	0.0087	0.0035	0.0034	0.0075	0.0070	0.0009	0	0.0087	0.0040	0.0002	0.0012	0.0068	0.0051	0.0066	0.0008	0.105	0.39334	T	0.567	0.15355	T	0.021	0.21686	B	0.01	0.25995	B	0.000145	0.49130	D	0.133676	0.999929	0.51308	D	0.455	0.12820	N	0.2	0.60111	T	-0.72	0.33598	N	0.611	0.66700	-1.0282	0.21038	T	0.075	0.30272	T	10	0.008199632	0.00186	T	.	.	.	0.251	0.56024	.	.	0.681388529596	0.67867	0.7343745236082765	0.73382	0.278618513711	0.30347	0.529201447964	0.42922	T	0.05476	0.41339	T	-0.147162	0.28757	T	0.0237968	0.71876	D	0.0278091546740154	0.01661	T	0.948405	0.80130	D	0.13663392	0.31667	0.10433816	0.25056	0.13663392	0.31666	0.10433816	0.25055	-2.491	0.05720	T	.	.	0.231	0.52639	B	.;.;.;.	.;.;.;.	3.766465	0.54074	23.4	0.99053735340692595	0.51321	0.97268	0.73690	D	AEFGBI	0.718729	0.66984	D	-0.402754952391943	0.25372	1.376839	-0.304849600468498	0.27942	1.554153	0.997609323701015	0.35808	0.643511	0.44296	0	0.653731	0.59785	0	0.688494	0.62686	0	0.655142	0.61905	0	.	.	5.03	4.13	0.47661	7.209000	0.77424	9.606000	0.81076	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.0:0.1384:0.8616:0.0	15.574	0.76101	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.010101	0.014946	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	1203.43	33	chr18	79096627	.	G	C	1203.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.437;DP=438;ExcessHet=0;FS=0.72;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-0.129;SOR=0.814	GT:AD:DP:GQ:PL	0/1:61,57:118:99:1215,0,1431	9	0	1	0
chr18	79373906	79373906	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079G:p.L1027V,ATP9B:NM_198531:exon28:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0300084248149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.363e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.066	0.44501	T	0.011	0.17989	B	0.014	0.21939	B	0.000044	0.53742	D	0.072519	1	0.81001	D	.	.	.	-1.0	0.76037	T	0.63	0.02404	N	0.643	0.67132	-0.9931	0.31801	T	0.086	0.33578	T	10	0.3595691	0.52622	T	0.030008	0.52407	D	0.228	0.52768	0.556	0.67409	0.716971919736	0.71448	0.6714160944778895	0.67079	0.231826800128	0.25737	0.712757587433	0.68993	T	0.06665	0.32998	T	-0.00324871	0.51206	T	-0.242443	0.50560	T	0.988950908184052	0.79227	D	0.769823	0.39947	T	0.086578995	0.20131	0.08379029	0.19227	0.086578995	0.20130	0.08379029	0.19227	-9.254	0.75058	D	.	.	0.157	0.34775	B	.;.	.;.	2.695608	0.35200	19.83	0.99167772354724137	0.54298	0.79215	0.39211	D	AEFBI	0.229011	0.35260	N	-0.22633195655759	0.32055	1.803854	-0.118404370068464	0.34647	1.995432	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	663.14	35	chr18	79373906	.	C	G	663.14	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-1.034;DP=374;ExcessHet=2.1085;FS=138.543;InbreedingCoeff=-0.3888;MLEAC=6;MLEAF=0.75;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=1.26;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,8:33:48:0|1:79373902_C_T:48,0,847:79373902	0	0	4	6
chr19	110747	110747	-	T	exonic	OR4F17	.	frameshift insertion	OR4F17:NM_001005240:exon3:c.70dupT:p.V26Cfs*20	.	454	1047	21	0	0	21	0.00992908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061	0.00479233	0.0060	0.0013	0.0060	0	0.0026	0.0078	0.0033	0.0065	0.0004786	74	154602	rs560302340	0.0052	0.0082	0.0053	0.0051	0.0057	0.0051	0.0050	0.0056	0.0055	0.0006	0.0046	0.0084	5.04e-05	0.0016	0.0046	0.0057	0.0047	0.0051	0.0040	0.0060	0.0043	0.0038	0.0067	0.0038	0.0037	0.0055	0.0052	0.0008	0.0011	0.0066	0.0099	0	0.0008	0.0069	0.0057	0.0067	0.0067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005220	0.006849	0.004087	0.004425	0.000000	0.008929	0.007194	0.012097	0.1	1478.1	323	chr19	110747	.	G	GT	1478.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.13;DP=838;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=36.59;MQRankSum=-2.939;QD=2.76;ReadPosRankSum=-0.459;SOR=0.69	GT:AD:DP:GQ:PL	0/1:159,54:213:99:1037,0,4306	8	0	2	0
chr19	549093	549093	C	T	exonic	GZMM	.	nonsynonymous SNV	GZMM:NM_001258351:exon4:c.C403T:p.R135C,GZMM:NM_005317:exon4:c.C520T:p.R174C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.327217623926	.	0.000399361	0.0003	0	0	0.0003	0	4.627e-05	0	0.0009	9.7e-05	15	154602	rs549703952	0.0001	0.0001	9.122e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	3.011e-05	2.491e-05	0	5.19e-05	0	0.0005	2.91e-05	0.0002	0.0017	6.582e-05	6.564e-05	2.575e-05	0.0001	0.0021	3.522e-05	2.62e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.001	0.78490	D	0.015	0.61642	D	0.998	0.73220	D	0.94	0.67560	D	0.588851	0.11070	U	0.663319	1	0.08975	N	1.06	0.26948	L	-2.45	0.88847	D	-3.43	0.67359	D	0.283	0.32037	-0.1359	0.79264	T	0.678	0.88870	D	10	0.07312745	0.11007	T	0.327218	0.91647	D	0.345	0.66676	.	.	0.834332070228	0.83275	0.4897540887096439	0.48895	0.394897662239	0.40640	0.46452575922	0.33930	T	0.552066	0.84851	D	-0.327706	0.06287	T	-0.293944	0.45361	T	0.158856993623988	0.17787	T	0.832517	0.50110	T	0.3691063	0.58519	0.53796077	0.73299	0.3691063	0.58519	0.53796077	0.73299	-10.589	0.77357	D	.	.	0.313	0.56520	B	.;.	.;.	2.494783	0.32192	18.97	0.99411775081558751	0.63310	0.03467	0.08621	N	AEFDBHCI	0.037406	0.05139	N	-0.573420865056525	0.19755	1.036402	-0.944051513637879	0.11061	0.5612132	0.633807362706232	0.21992	0.581397	0.33459	0	0.78372	0.99691	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.87	-5.74	0.02197	-1.995000	0.01562	-2.028000	0.04322	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4748:0.2527:0.1576:0.115	1.956	0.03171	994	0.00715	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	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001021	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	612.43	34	chr19	549093	.	C	T	612.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.495;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=-0.477;SOR=0.633	GT:AD:DP:GQ:PL	0/1:43,30:73:99:624,0,980	9	0	1	0
chr19	1923156	1923156	C	T	exonic	SCAMP4	.	nonsynonymous SNV	SCAMP4:NM_001329539:exon5:c.C350T:p.S117L,SCAMP4:NM_001329540:exon5:c.C380T:p.S127L,SCAMP4:NM_079834:exon6:c.C482T:p.S161L	.	415	1057	47	3	0	53	0.0244578	.	.	.	2815119	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.063	0.0181471237354	0.0012	0.000998403	0.0044	0	0	0	0	0.0032	0	0.0089	0.0011707	181	154602	rs201575102	0.0017	0.0017	0.0015	0.0019	0.0109	0.0016	0.0016	0.0087	0.0082	0.0004	0.0028	0.0098	2.795e-05	4.059e-05	0.0109	0.0010	0.0030	0.0090	0.0012	0.0012	0.0012	0.0013	0.0085	0.0011	0.0010	0.0064	0.0057	0.0003	0	0.0017	0.0072	0	9.427e-05	0	0.0012	0.0028	0.0085	0.666	0.04616	T	0.662	0.08961	T	0.178	0.28960	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.47	0.36993	L	2.26	0.17596	T	-0.72	0.28703	N	0.507	0.55280	-1.0258	0.21821	T	0.032	0.13548	T	9	0.010071874	0.00225	T	0.018147	0.40116	T	0.063	0.18251	.	.	0.168933306366	0.16529	0.8777534529285248	0.87742	0.185573042328	0.20862	0.556228518486	0.46735	T	0.008228	0.07566	T	-0.505838	0.00530	T	-0.491987	0.23182	T	0.0164431426993568	0.00410	T	0.80282	0.45805	T	0.14684372	0.33596	0.11954387	0.28853	0.14684372	0.33596	0.11954387	0.28852	-4.346	0.46877	T	.	.	0.261	0.52385	B	.;.;.;.	.;.;.;.	2.687015	0.35067	19.80	0.95875198977648801	0.28060	0.67837	0.33578	D	AEFGBI	0.284643	0.39746	N	-0.370526598003247	0.26525	1.448272	-0.282638707139203	0.28670	1.60032	0.997094890971606	0.35269	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	2.002000	0.40454	5.853000	0.50357	0.599000	0.40250	0.473000	0.26745	1.000000	0.68203	0.103000	0.18424	0.0:0.9128:0.0:0.0872	10.727	0.45273	988	0.01987	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009937	0.005051	0.005682	0.018072	0.000000	0.027273	0.009677	0.000000	0.05	1241.43	40	chr19	1923156	.	C	T	1241.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.495;DP=391;ExcessHet=0;FS=4.496;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-0.059;SOR=1.256	GT:AD:DP:GQ:PL	0/1:31,49:80:99:1253,0,663	9	0	1	0
chr19	2278630	2278630	C	T	exonic	PEAK3	.	nonsynonymous SNV	PEAK3:NM_198532:exon3:c.G566A:p.R189H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.0689209612997	.	0.000199681	2.952e-05	0.0001	0	0	0	1.705e-05	0	0.0001	2.59e-05	4	154602	rs573675978	7.407e-06	9.577e-06	2.897e-06	1.213e-05	5.237e-05	3.75e-06	2.73e-06	1.153e-05	6.2e-06	0	0	0	5.237e-05	0	0	3.783e-06	1.801e-05	4.344e-05	6.564e-06	6.562e-06	0	1.342e-05	2.405e-05	0	0	.	.	2.405e-05	0	0	0	0	0	0	0	0	0	0.029	0.45756	D	0.0	0.92824	D	1.0	0.90584	D	0.983	0.75793	D	.	.	.	.	0.869982	0.28222	N	.	.	.	2.41	0.15492	T	-1.83	0.42957	N	0.502	0.53445	-1.0533	0.13493	T	0.096	0.36133	T	9	0.368971	0.53325	T	0.068921	0.70586	D	0.212	0.50341	0.486	0.56939	0.376216005999	0.37235	0.3685832522242355	0.36772	0.671657670081	0.59470	0.69732093811	0.66757	T	0.016474	0.13610	T	-0.239237	0.15447	T	-0.394251	0.34054	T	0.647868394851685	0.38371	D	0.649135	0.25986	T	0.11828602	0.27871	0.1308974	0.31443	0.11828602	0.27871	0.1308974	0.31443	-8.526	0.64601	D	.	.	0.233	0.46619	B	.	.	3.824449	0.55248	23.6	0.99922450379713734	0.98852	0.76879	0.37742	D	AEFDBHCI	0.195545	0.32257	N	0.253482221050617	0.53811	3.548544	0.153809363342835	0.47344	2.96607	0.999990921859323	0.74766	0.536635	0.22144	0	0.611049	0.52481	0	0.514364	0.09456	0	0.645665	0.59343	0	.	.	4.37	4.37	0.51830	1.806000	0.38530	0.169000	0.15496	0.513000	0.23382	0.921000	0.31989	0.009000	0.19889	0.056000	0.15673	0.0:1.0:0.0:0.0	13.631	0.61664	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	.	.	.	.	.	.	.	.	0.05	568.43	33	chr19	2278630	.	C	T	568.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.281;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.307;SOR=0.763	GT:AD:DP:GQ:PL	0/1:21,24:45:99:580,0,493	9	0	1	0
chr19	4510758	4510758	T	C	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.A3202G:p.T1068A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0125255011953	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1299046204	7.087e-06	7.524e-06	9.793e-06	4.309e-06	8.294e-06	3.58e-06	2.61e-06	3.9e-06	2.83e-06	0	0	0	0	0	0	8.294e-06	1.723e-05	0	1.97e-05	1.969e-05	1.285e-05	2.686e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.941e-05	0	0	0.614	0.05404	T	0.189	0.28575	T	0.007	0.14184	B	0.015	0.17295	B	0.162466	0.17621	N	0.409334	1	0.08975	N	1.395	0.35261	L	3.73	0.03982	T	-1.1	0.28497	N	0.05	0.02179	-0.9152	0.46194	T	0.009	0.03271	T	10	0.07253334	0.10841	T	0.012526	0.31184	T	0.027	0.05988	0.21	0.12781	0.0297737177859	0.01360	0.05321918174000491	0.05263	.	.	0.278061419725	0.07223	T	0.011918	0.10560	T	-0.420443	0.01699	T	-0.841714	0.01073	T	0.031483456492424	0.02223	T	0.235876	0.03275	T	0.041209213	0.06027	0.027696185	0.00943	0.041209213	0.06027	0.027696185	0.00943	-3.396	0.15003	T	.	.	0.067	0.02993	B	.;.	.;.	-0.884582	0.00952	0.037	0.71893092685122273	0.09784	0.02209	0.06439	N	AEFDBCI	0.059753	0.11308	N	-1.29663781274889	0.03716	0.1664896	-1.4373978426608	0.02886	0.1336135	0.907118145340481	0.26250	0.582742	0.33608	0	0.550933	0.16991	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	3.65	-6.28	0.01844	-1.366000	0.02692	-7.510000	0.01142	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1257:0.2669:0.3819:0.2255	2.196	0.03673	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	.	.	.	.	.	.	.	.	0.1	3596.14	109	chr19	4510758	.	T	C	3596.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.813;DP=929;ExcessHet=0.2348;FS=4.254;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.196;SOR=0.932	GT:AD:DP:GQ:PL	0/1:67,69:136:99:1781,0,1727	8	0	2	0
chr19	6183124	6183124	C	G	exonic	ACSBG2	.	nonsynonymous SNV	ACSBG2:NM_001289177:exon10:c.C1174G:p.H392D,ACSBG2:NM_001289178:exon10:c.C1174G:p.H392D,ACSBG2:NM_001289179:exon10:c.C1174G:p.H392D,ACSBG2:NM_001289180:exon10:c.C613G:p.H205D,ACSBG2:NM_001321384:exon10:c.C1024G:p.H342D,ACSBG2:NM_030924:exon10:c.C1174G:p.H392D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00968171512336	0.0026	0.000798722	0.0013	0.0005	0.0003	0	0.0002	0.0017	0.0033	0.0019	0.0014553	225	154602	rs147652076	0.0028	0.0028	0.0029	0.0028	0.0034	0.0027	0.0027	0.0033	0.0033	0.0004	0.0004	0.0002	0	0.0001	0.0003	0.0034	0.0015	0.0019	0.0014	0.0014	0.0014	0.0014	0.0029	0.0013	0.0012	0.0021	0.0020	0.0004	0	0.0008	0	0.0002	0.0003	0	0.0024	0.0019	0.0029	.	.	.	0.288	0.21144	T	0.244	0.31025	B	0.216	0.37572	B	0.577490	0.11176	N	0.758456	1	0.08975	N	1.875	0.49914	L	1.06	0.39781	T	.	.	.	0.312	0.35194	-0.9911	0.32321	T	0.082	0.32148	T	10	0.008499205	0.00193	T	0.009682	0.25290	T	.	.	.	.	0.353336612579	0.34937	0.7060770996703132	0.70549	0.156178610109	0.17630	0.244652628899	0.03226	T	0.017225	0.14089	T	-0.491899	0.00634	T	-0.478951	0.24558	T	0.00471728563711094	0.00050	T	0.523548	0.19007	T	0.29162294	0.52143	0.25518137	0.51196	0.29162294	0.52143	0.25518137	0.51195	-6.116	0.47240	T	.	.	0.190	0.41663	B	.;.;.;.	.;.;.;.	0.977926	0.13551	10.08	0.89263132295779946	0.18648	0.09210	0.15012	N	AEFDBI	0.190515	0.31775	N	-0.724093006570382	0.15346	0.7725653	-0.783480245484795	0.14899	0.7809481	1.52068153037033E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.315538	0.05692	2	0.530356	0.10902	0	.	.	5.16	1.38	0.21262	0.324000	0.19357	-0.133000	0.11598	0.599000	0.40250	0.018000	0.19461	0.000000	0.08366	0.021000	0.11733	0.1971:0.5146:0.1218:0.1664	2.777	0.05022	923	0.18507	.;.;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	.	.	.	.	.	.	.	.	0.05	1907.43	35	chr19	6183124	.	C	G	1907.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.195;DP=615;ExcessHet=0;FS=1.143;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.175;SOR=0.586	GT:AD:DP:GQ:PL	0/1:101,85:186:99:1919,0,2356	9	0	1	0
chr19	8882357	8882357	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon67:c.A41726C:p.H13909P	.	405	1047	70	0	0	70	0.0323475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00792783571824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796735167	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.375e-05	0.0031	2.685e-05	0	5.047e-05	2.28e-06	8.6e-07	8.36e-06	3.13e-06	5.047e-05	0	0	0	0	0	0	0	0	0	0.013	0.53900	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.42	0.33189	T	-2.13	0.48354	N	0.169	0.17966	-0.9248	0.44886	T	0.118	0.41538	T	8	0.10297388	0.18905	T	0.007928	0.21033	T	0.032	0.07718	.	.	0.12205267543	0.11705	0.27533970181248574	0.27446	.	.	0.296447068453	0.09873	T	.	.	.	-0.231789	0.16411	T	-0.570725	0.15383	T	0.117542110383511	0.14187	T	0.136186	0.01076	T	.	.	.	.	.	.	.	.	-5.776	0.44365	T	.	.	0.094	0.14523	B	.	.	1.063717	0.14459	11.03	0.92759947552597488	0.22269	0.03584	0.08802	N	AEFBI	0.044049	0.07038	N	-0.65132752016793	0.17421	0.8963414	-0.848972519843682	0.13313	0.6899027	8.8082630228839E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.64	0.168	0.14298	-0.323000	0.08039	.	.	0.481000	0.22134	0.000000	0.06391	0.000000	0.08366	0.263000	0.23594	0.0:0.1579:0.2494:0.5927	3.103	0.05949	958	0.09170	SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	276.98	78	chr19	8882357	.	T	G	276.98	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.24;DP=1173;ExcessHet=0;FS=3.776;InbreedingCoeff=-0.1261;MLEAC=1;MLEAF=0.063;MQ=58.78;MQRankSum=-8.023;QD=2.15;ReadPosRankSum=0.011;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,15:129:99:0|1:8882357_T_G:287,0,4708:8882357	7	0	1	2
chr19	8882360	8882360	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon67:c.C41723A:p.T13908N	.	407	1050	65	0	0	65	0.0300231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00551552653495	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175263485	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.846e-06	0.0029	1.337e-05	0	2.514e-05	0	0	.	.	2.514e-05	0	0	0	0	0	0	0	0	0	0.167	0.23095	T	0.11	0.37310	T	.	.	.	.	.	.	.	.	.	.	0.99995	0.19072	N	.	.	.	1.43	0.32958	T	-1.48	0.36189	N	0.215	0.24010	-0.9114	0.46682	T	0.117	0.41165	T	8	0.12792793	0.24332	T	0.005516	0.14197	T	0.036	0.09122	.	.	0.17948927462	0.17512	0.1012481156749268	0.10055	.	.	0.334889471531	0.15672	T	.	.	.	-0.280333	0.10633	T	-0.640456	0.09636	T	0.303562044834163	0.25150	T	0.377862	0.09067	T	.	.	.	.	.	.	.	.	-8.949	0.67368	D	.	.	0.129	0.27553	B	.	.	1.151135	0.15394	11.82	0.98214552204547234	0.39246	0.04046	0.09490	N	AEFBI	0.032139	0.03572	N	-0.171701422619438	0.34317	1.957244	-0.381415807223033	0.25551	1.405855	1.60312416966797E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.64	1.57	0.22490	0.080000	0.14657	.	.	0.488000	0.22294	0.002000	0.15269	0.022000	0.20871	0.320000	0.24970	0.1933:0.0:0.8067:0.0	4.506	0.11297	958	0.09170	SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	270.73	78	chr19	8882360	.	G	T	270.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.527;DP=1171;ExcessHet=0;FS=2.357;InbreedingCoeff=-0.1114;MLEAC=1;MLEAF=0.063;MQ=58.8;MQRankSum=-8.095;QD=2.07;ReadPosRankSum=0.456;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,15:131:99:0|1:8882357_T_G:281,0,4792:8882357	7	0	1	2
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	74.97	385	chr19	8888826	.	T	*	74.97	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.96;DP=3805;ExcessHet=15.1594;FS=9.58;InbreedingCoeff=-0.8182;MLEAC=8;MLEAF=0.4;MQ=57.53;MQRankSum=-10.06;QD=0.02;ReadPosRankSum=1.04;SOR=1.39	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:282,85:422:99:0|1:8888826_T_*:2731,0,11579:8888826	2	0	8	0
chr19	8899972	8899972	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.A39013G:p.T13005A	.	419	1095	8	0	0	8	0.00363967	0	0.03	.	3210996	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.024	0.00749902169758	.	.	1.661e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756739393	1.369e-06	1.368e-06	1.362e-06	1.376e-06	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	2.836e-05	0.0017	0	5.868e-05	2.66e-05	9.63e-06	5.47e-06	.	.	2.66e-05	0	0	0	0	0.0003	0	0	0	0	0.845	0.02774	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	4.67	0.01735	T	1.1	0.01229	N	0.045	0.01740	-0.9255	0.44786	T	0.001	0.00467	T	7	0.021653622	0.00522	T	0.007499	0.19899	T	0.024	0.04979	0.153	0.05648	0.0138822411134	0.00435	0.07225205961657089	0.07162	.	.	0.242049396038	0.02977	T	.	.	.	-0.549186	0.00295	T	-0.829673	0.01268	T	0.0531765688373252	0.06049	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-6.763	0.52283	T	.	.	0.059	0.00834	B	.	.	0.265119	0.06434	2.903	0.15376159983054832	0.00374	0.00009	0.00143	N	AEFBI	0.015378	0.00290	N	-2.18627876915683	0.00082	0.003520834	-2.16957185045865	0.00131	0.005755971	1.89267803303865E-5	0.02871	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	-0.073000	0.11428	.	.	-2.696000	0.00211	0.011000	0.18532	0.000000	0.08366	0.000000	0.00833	0.2938:0.4676:0.0:0.2386	2.013	0.03280	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	.	.	.	.	.	.	.	.	0.15	515.45	40	chr19	8899972	.	T	C	515.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.927;DP=1142;ExcessHet=0.7463;FS=2.187;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=59.1;MQRankSum=-13.95;QD=0.81;ReadPosRankSum=-0.363;SOR=0.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,15:196:85:0|1:8899972_T_C:85,0,7534:8899972	7	0	3	0
chr19	8899974	8899974	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39011T:p.T13004I	.	419	1095	8	0	0	8	0.00363967	0.0414	0.372	.	3214956	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.045	0.00118460416831	.	.	2.492e-05	0	8.709e-05	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs778952678	8.896e-06	8.893e-06	9.532e-06	8.253e-06	0.0002	4.96e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.996e-06	1.657e-05	1.16e-05	2.122e-05	0.0017	0	4.395e-05	2.653e-05	5.64e-06	2.57e-06	.	.	2.653e-05	0	0	0	0	0.0002	0	0	0	0	0.011	0.55530	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.43	0.02158	T	-2.06	0.47175	N	0.174	0.18649	-1.0313	0.20034	T	0.017	0.07187	T	8	0.12934974	0.24610	T	0.001185	0.01509	T	0.045	0.12272	.	.	0.128392430309	0.12331	0.11902561227878314	0.11829	.	.	0.318150579929	0.13140	T	.	.	.	-0.323778	0.06593	T	-0.57241	0.15230	T	0.219254165887833	0.21427	T	0.221278	0.02853	T	.	.	.	.	.	.	.	.	-7.441	0.57194	T	.	.	0.144	0.31608	B	.	.	1.710829	0.21783	15.35	0.21896655339985072	0.00856	0.01505	0.04982	N	AEFBI	0.034770	0.04364	N	-0.324931602343095	0.28204	1.553715	-0.621172338705613	0.18950	1.014588	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	0.426000	0.21081	.	.	0.526000	0.24426	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	5.678	0.17030	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	.	.	.	.	.	.	.	.	0.15	473.45	40	chr19	8899974	.	G	A	473.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.234;DP=1156;ExcessHet=0.7463;FS=2.163;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=59.12;MQRankSum=-14.13;QD=0.73;ReadPosRankSum=-0.18;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,15:201:70:0|1:8899972_T_C:70,0,7744:8899972	7	0	3	0
chr19	8899979	8899979	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39006A:p.S13002R	.	420	1090	12	0	0	12	0.00547445	.	.	.	3192352	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.047	0.00102388544923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337261124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	0.0019	0	5.902e-05	2.675e-05	9.65e-06	5.49e-06	.	.	2.675e-05	0	0	0	0	0.0003	0	0	0	0	0.005	0.63226	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.6	0.01868	T	-1.27	0.31981	N	0.225	0.25253	-1.0136	0.25784	T	0.015	0.06282	T	8	0.15770155	0.29672	T	0.001024	0.01120	T	0.047	0.12962	0.143	0.04650	0.0920862733494	0.08535	0.15085560951934324	0.15007	.	.	0.265822708607	0.05603	T	.	.	.	-0.261119	0.12768	T	-0.612856	0.11755	T	0.168099865317345	0.18450	T	0.177782	0.01744	T	.	.	.	.	.	.	.	.	-7.626	0.58492	D	.	.	0.224	0.45544	B	.	.	0.282384	0.06594	3.083	0.44924595648877924	0.03489	0.01381	0.04703	N	AEFBI	0.028519	0.02526	N	-0.385439741200818	0.25987	1.414868	-0.673385610186316	0.17627	0.9381749	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	-0.802000	0.04651	.	.	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.678	0.17030	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	.	.	.	.	.	.	.	.	0.15	421.44	40	chr19	8899979	.	G	T	421.44	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.2;DP=1185;ExcessHet=0.7463;FS=2.271;InbreedingCoeff=-0.176;MLEAC=3;MLEAF=0.15;MQ=59.14;MQRankSum=-14.64;QD=0.62;ReadPosRankSum=0.317;SOR=0.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,15:217:22:0|1:8899972_T_C:22,0,8437:8899972	7	0	3	0
chr19	8900001	8900001	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38984A:p.G12995E	.	417	1065	39	1	0	41	0.0188853	.	.	.	3221801	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	0.00120842336054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796151917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.886e-05	0.0031	1.417e-05	0.0001	0.0002	2.927e-05	2.125e-05	3.799e-05	2.25e-05	0.0001	0	0	0	0	0.0004	0	0	0	0.0002	0.091	0.31834	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	-0.88	0.23808	N	0.103	0.08646	-0.9217	0.45320	T	0.007	0.02282	T	8	0.11394003	0.21421	T	0.001208	0.01583	T	0.054	0.15330	0.142	0.04556	0.101711395817	0.09552	0.1462809682678735	0.14550	.	.	0.19396597147	0.00303	T	.	.	.	-0.32769	0.06288	T	-0.708481	0.05374	T	0.163903206586838	0.18155	T	0.165083	0.01523	T	.	.	.	.	.	.	.	.	-6.443	0.49844	T	.	.	0.084	0.09868	B	.	.	-0.242325	0.02882	0.411	0.27013934638062309	0.01321	0.00389	0.01958	N	AEFBI	0.035362	0.04537	N	-0.780672500721295	0.13814	0.6832987	-1.02483553794802	0.09240	0.4585958	8.79614165805569E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	0.00923	0.13400	-2.573000	0.00987	.	.	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.4308:0.0:0.0	3.969	0.08937	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2	867.56	40	chr19	8900001	.	C	T	867.56	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.397;DP=1750;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.2495;MLEAC=4;MLEAF=0.2;MQ=59.02;MQRankSum=-14.38;QD=0.95;ReadPosRankSum=1.8;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,16:232:22:0|1:8900000_C_T:22,0,9022:8900000	6	0	4	0
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	880.23	222	chr19	8908637	.	C	G	880.23	.	AC=5;AF=0.278;AN=18;BaseQRankSum=2.15;DP=1758;ExcessHet=2.8389;FS=21.496;InbreedingCoeff=-0.3793;MLEAC=5;MLEAF=0.278;MQ=58.66;MQRankSum=-8.787;QD=0.95;ReadPosRankSum=0.427;SOR=3.3	GT:AD:DP:GQ:PL	0/1:164,21:185:99:388,0,6783	4	0	5	1
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	871.27	217	chr19	8908644	.	C	G	871.27	.	AC=5;AF=0.278;AN=18;BaseQRankSum=2.73;DP=1791;ExcessHet=2.8389;FS=21.084;InbreedingCoeff=-0.3802;MLEAC=5;MLEAF=0.278;MQ=58.43;MQRankSum=-8.048;QD=0.95;ReadPosRankSum=0.948;SOR=3.012	GT:AD:DP:GQ:PL	0/1:162,21:183:99:394,0,6684	4	0	5	1
chr19	8975176	8975176	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.A5963C:p.H1988P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.00113401747389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.109	0.37449	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.23	0.02616	T	-2.41	0.52938	N	0.198	0.21839	-0.9058	0.47355	T	0.004	0.01295	T	7	0.066522956	0.09136	T	0.001134	0.01385	T	0.110	0.31079	0.104	0.01698	0.0806252709748	0.07271	0.04058596522819306	0.04004	.	.	0.340788960457	0.16556	T	.	.	.	-0.206037	0.19940	T	-0.533734	0.18916	T	0.144465987361972	0.16653	T	0.171083	0.01625	T	.	.	.	.	.	.	.	.	-2.408	0.05182	T	.	.	0.139	0.30423	B	.	.	0.755727	0.11254	7.883	0.19440033369117385	0.00656	0.00977	0.03727	N	AEFDBI	0.053340	0.09602	N	-0.888664294137666	0.11112	0.5344758	-1.02673881565049	0.09199	0.4563462	6.83989850364727E-4	0.07622	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.235	0.235	0.14697	-0.143000	0.10278	.	.	0.366000	0.20181	0.000000	0.06391	0.000000	0.08366	0.740000	0.35438	.	.	.	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2629.43	116	chr19	8975176	.	T	G	2629.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.18;DP=1279;ExcessHet=0;FS=0.974;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=-1.139;SOR=0.789	GT:AD:DP:GQ:PL	0/1:146,107:253:99:2641,0,3670	9	0	1	0
chr19	10338838	10338838	T	C	exonic	ICAM3	.	nonsynonymous SNV	ICAM3:NM_001320605:exon2:c.A187G:p.I63V,ICAM3:NM_002162:exon2:c.A187G:p.I63V	.	427	1086	9	0	0	9	0.00412655	.	.	.	727847	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.008	.	0.0009	0.00938498	0.0077	0.0004	0.0003	0.0495	0.0354	0.0028	0.0166	0.0035	0.0067916	1050	154602	rs17697947	0.0043	0.0043	0.0043	0.0044	0.0588	0.0042	0.0042	0.0569	0.0560	0.0002	0.0007	0.0010	0.0588	0.0369	0.0026	0.0013	0.0046	0.0029	0.0058	0.0058	0.0037	0.0079	0.0466	0.0054	0.0053	0.0418	0.0400	0.0003	0	0.0017	0.0003	0.0466	0.0439	0	0.0015	0.0047	0.0039	0.712	0.04020	T	0.819	0.03840	T	0.001	0.07471	B	0.013	0.16460	B	0.766272	0.09582	N	0.853625	1	0.22763	N	1.26	0.31868	L	2.54	0.13916	T	-0.53	0.16393	N	0.06	0.03175	-0.9342	0.43515	T	0.004	0.01435	T	10	0.0026617646	0.00041	T	.	.	.	0.008	0.00669	.	.	0.128392430309	0.12331	0.32726545291155884	0.32639	0.366126919708	0.38193	0.387051075697	0.23253	T	0.03386	0.23088	T	-0.693733	0.00040	T	-0.720596	0.04767	T	0.00489653433331906	0.00053	T	0.50435	0.15896	T	0.101566344	0.23993	0.04078051	0.04486	0.101566344	0.23992	0.04078051	0.04486	-2.093	0.03554	T	.	.	0.136	0.29533	B	.;.	.;.	-0.723412	0.01267	0.066	0.25413303159105682	0.01170	0.04019	0.09450	N	AEFBCIJ	0.052109	0.09270	N	-1.52066017625794	0.01714	0.07501812	-1.57356518576762	0.01819	0.0828294	0.999993280911081	0.74766	0.643511	0.44296	0	0.672317	0.65289	0	0.688494	0.62686	0	0.567892	0.33627	0	.	.	5.66	-5.54	0.02343	-0.529000	0.06273	-1.347000	0.05657	-0.226000	0.07819	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.218:0.5242:0.2578	8.062	0.29799	758	0.50837	Intercellular adhesion molecule, N-terminal|Immunoglobulin subtype;Intercellular adhesion molecule, N-terminal	.	.	.	.	rs17697947	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.1	3045.14	83	chr19	10338838	.	T	C	3045.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.537;DP=859;ExcessHet=0.2348;FS=0.891;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-0.394;SOR=0.76	GT:AD:DP:GQ:PL	0/1:87,63:150:99:1370,0,2022	8	0	2	0
chr19	10420933	10420933	C	T	exonic	PDE4A	.	nonsynonymous SNV	PDE4A:NM_001111307:exon1:c.C169T:p.R57W	.	422	1093	7	0	0	7	0.00319197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	.	.	0.00678914	0.0105	0.0004	0.0005	0.0596	0.0696	0.0047	0.0167	0.0056	0.0045795	708	154602	rs201432982	0.0031	0.0033	0.0030	0.0031	0.0437	0.0030	0.0030	0.0419	0.0412	0.0002	0.0007	0.0009	0.0437	0.0338	0.0023	0.0008	0.0037	0.0035	0.0051	0.0051	0.0031	0.0071	0.0304	0.0048	0.0047	0.0265	0.0250	0.0003	0	0.0016	0.0003	0.0304	0.0441	0	0.0012	0.0047	0.0037	.	.	.	0.028	0.54934	D	0.912	0.50421	P	0.109	0.31370	B	0.084477	0.02389	N	1.840680	0.999986	0.54805	D	0	0.06538	N	.	.	.	.	.	.	0.229	0.25745	-1.0545	0.13172	T	0.006	0.02168	T	10	0.003028363	0.00050	T	.	.	.	.	.	.	.	0.102598925029	0.09809	.	.	.	.	0.788813471794	0.80261	T	0.050592	0.28638	T	-0.499693	0.00574	T	-0.453307	0.27332	T	0.0611437898960345	0.07347	T	0.485151	0.14792	T	0.11001145	0.26006	0.18093538	0.40924	0.11001145	0.26006	0.18093538	0.40923	-6.478	0.50116	T	.	.	0.169	0.37159	B	.	.	3.320444	0.45663	22.2	0.99268790816438879	0.57491	0.72601	0.35530	D	AEFDBHCIJ	0.219032	0.34396	N	-0.364526428777785	0.26741	1.462	-0.402129127772751	0.24934	1.368285	0.999999943656591	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.79	2.73	0.31266	0.514000	0.22492	0.823000	0.21872	0.597000	0.34315	0.989000	0.36753	0.977000	0.30130	0.408000	0.26961	0.2277:0.7723:0.0:0.0	8.586	0.32819	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004111	0.000000	0.002778	0.000000	0.000000	0.000000	0.012579	0.007634	0.1	1512.14	34	chr19	10420933	.	C	T	1512.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.038;DP=439;ExcessHet=0.2348;FS=2.737;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=-0.172;SOR=0.908	GT:AD:DP:GQ:PL	0/1:37,39:76:99:832,0,776	8	0	2	0
chr19	10514162	10514162	C	T	exonic	S1PR5	.	nonsynonymous SNV	S1PR5:NM_001166215:exon2:c.G850A:p.V284I,S1PR5:NM_030760:exon2:c.G850A:p.V284I	.	333	1181	8	0	0	8	0.00337553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0008	0.00479233	0.0050	0.0003	0.0003	0.0174	0.0389	0.0025	0.0193	0.0020	0.0040491	626	154602	rs150461309	0.0031	0.0031	0.0031	0.0031	0.0335	0.0030	0.0030	0.0320	0.0314	5.978e-05	0.0007	0.0010	0.0335	0.0365	0.0038	0.0008	0.0030	0.0018	0.0048	0.0048	0.0029	0.0068	0.0216	0.0045	0.0044	0.0184	0.0172	0.0002	0	0.0023	0.0003	0.0216	0.0441	0	0.0012	0.0033	0.0029	1.0	0.00964	T	1.0	0.03296	T	0.045	0.21781	B	0.021	0.19346	B	0.089285	0.20435	U	0.440276	0.999994	0.08975	N	-0.415	0.02918	N	1.23	0.36872	T	0.17	0.05125	N	0.078	0.05287	-1.0134	0.25848	T	0.014	0.05608	T	10	0.0031430721	0.00053	T	.	.	.	0.046	0.12618	.	.	0.531531992086	0.52802	0.32803289889116455	0.32716	.	.	0.648723840714	0.59804	T	0.033523	0.22947	T	-0.654708	0.00068	T	-0.700246	0.05813	T	0.00794326790643292	0.00094	T	0.652235	0.26282	T	0.061632678	0.12783	0.03606189	0.02977	0.061632678	0.12782	0.03606189	0.02977	-6.549	0.50663	T	.	.	0.099	0.26232	B	.;.;.	.;.;.	1.992013	0.25307	16.72	0.83038261321540119	0.14509	0.06877	0.12903	N	AEFDBCI	0.080054	0.16180	N	-1.11962483273056	0.06294	0.2893701	-1.04034974972405	0.08909	0.4404267	0.976464743820542	0.29727	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	5.21	1.84	0.24348	-0.655000	0.05447	3.954000	0.40696	0.465000	0.21702	0.000000	0.06391	0.999000	0.35428	0.947000	0.49155	0.147:0.4824:0.143:0.2276	1.722	0.02738	743	0.52768	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	rs150461309	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001011	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.000000	0.1	3239.14	34	chr19	10514162	.	C	T	3239.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.876;DP=622;ExcessHet=0.2348;FS=0.424;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=1.23;SOR=0.664	GT:AD:DP:GQ:PL	0/1:51,72:123:99:1572,0,1104	8	0	2	0
chr19	11221884	11221884	G	A	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_020812:exon28:c.C3517T:p.R1173W,DOCK6:NM_001367830:exon29:c.C3622T:p.R1208W	Adams-Oliver syndrome 2, Autosomal recessive	1	1495	25	1	0	27	0.00894929	.	.	.	438086	not_provided|DOCK6-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.128	0.024716856273	0.0027	0.00159744	0.0025	0.0023	0.0012	0	0.0003	0.0029	0.0033	0.0042	0.0023544	364	154602	rs145081732	0.0026	0.0026	0.0025	0.0027	0.0083	0.0025	0.0025	0.0064	0.0058	0.0015	0.0014	0.0032	2.519e-05	0.0002	0.0083	0.0028	0.0023	0.0035	0.0018	0.0018	0.0021	0.0016	0.0025	0.0017	0.0016	0.0021	0.0020	0.0016	0	0.0013	0.0023	0	0	0.0102	0.0024	0.0014	0.0025	0.002	0.72154	D	0.005	0.72224	D	0.981	0.59675	D	0.586	0.50343	P	0.047094	0.23377	N	0.416055	0.657158	0.30481	N	1.1	0.28011	L	1.85	0.24472	T	-3.22	0.64939	D	0.425	0.46462	-1.0565	0.12646	T	0.044	0.18742	T	10	0.010068476	0.00225	T	0.024717	0.47706	T	0.128	0.35103	.	.	0.414150184683	0.41028	0.5947782358054443	0.59407	0.462280186915	0.45762	0.568136334419	0.48413	T	0.040953	0.25698	T	-0.406529	0.02097	T	-0.357008	0.38398	T	0.0362760959576312	0.03028	T	0.926807	0.73035	D	0.08433924	0.19516	0.108308405	0.26088	0.08433924	0.19516	0.108308405	0.26087	-9.738	0.72328	D	.	.	0.198	0.42126	B	.	.	4.949368	0.81744	27.6	0.99899746864282124	0.97199	0.94870	0.62616	D	AEFBI	0.548525	0.56177	D	-0.0397028517292993	0.40063	2.372941	-0.0379795339695781	0.38015	2.233739	5.09064424599943E-5	0.03989	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.44	3.37	0.37692	1.997000	0.40406	.	.	0.676000	0.76740	0.989000	0.36753	1.000000	0.68203	0.599000	0.31363	0.0:0.0:0.6585:0.3415	11.223	0.48098	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.000000	0.010870	0.014620	0.000000	0.008621	0.003049	0.015152	0.15	3219.45	33	chr19	11221884	.	G	A	3219.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.06;DP=541;ExcessHet=0.7463;FS=2.77;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=1.13;SOR=0.873	GT:AD:DP:GQ:PL	0/1:64,43:107:99:1036,0,1527	7	0	3	0
chr19	13261453	13261453	C	T	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon26:c.G4250A:p.C1417Y,CACNA1A:NM_001127222:exon26:c.G4247A:p.C1416Y	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.900	0.662448640831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.945	0.96414	H	-4.36	0.97317	D	-10.89	0.99244	D	0.9	0.91736	1.103	0.99760	D	0.959	0.98667	D	10	0.92822963	0.92167	D	0.662449	0.97167	D	0.900	0.97210	0.597	0.72739	0.946521584196	0.94595	0.9989162058167032	0.99890	3.10580878237	0.99392	0.820091307163	0.85041	D	0.425318	0.77547	T	0.548974	0.95690	D	0.550787	0.95627	D	0.999760091304779	0.98882	D	0.970803	0.90930	D	0.9488749	0.96151	0.8905547	0.94306	0.9488749	0.96151	0.8905547	0.94306	-12.59	0.87605	D	0.7545057421757159	0.83651	1.000	0.99795	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.250013	0.88146	29.5	0.98413605309687413	0.41201	0.57634	0.30428	D	AEFGBHCI	0.971659	0.99367	D	0.815197305321873	0.87046	9.085217	0.690351591084019	0.81645	7.575577	1.0	0.98316	0.706298	0.61202	0	0.166054	0.03914	2	0.709663	0.75317	0	0.75052	0.99595	0	.	.	4.28	4.28	0.50183	7.876000	0.85623	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	15.505	0.75468	867	0.32089	Ion transport domain;Ion transport domain;Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;.;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	.	.	.	.	.	.	.	.	0.1875	263.11	49	chr19	13261453	.	C	T	263.11	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.237;DP=472;ExcessHet=0.7463;FS=167.371;InbreedingCoeff=-0.2237;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.74;ReadPosRankSum=0.963;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,25:68:99:.:.:245,0,583:.	5	0	3	2
chr19	13298896	13298896	G	A	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon19:c.C2740T:p.P914S,CACNA1A:NM_001127222:exon19:c.C2737T:p.P913S	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	YES	133997	Inborn_genetic_diseases|not_provided|CACNA1A-related_disorder|Episodic_ataxia_type_2|Developmental_and_epileptic_encephalopathy,_42|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.|MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500,Orphanet:97|MONDO:MONDO:0014917,MedGen:C4310716,OMIM:617106|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.268	.	0.0058	0.0061901	0.0019	0.0286	0.0009	0.0001	0	2.083e-05	0.0017	7.488e-05	0.0014618	226	154602	rs16020	0.0006	0.0006	0.0007	0.0005	0.0215	0.0006	0.0006	0.0202	0.0197	0.0215	0.0008	0	0	0	0.0007	3.243e-05	0.0014	5.843e-05	0.0062	0.0062	0.0066	0.0058	0.0216	0.0059	0.0058	0.0204	0.0200	0.0216	0	0.0023	0	0	0	0.0034	7.35e-05	0.0047	0.0002	0.073	0.34800	T	0.899	0.03548	T	.	.	.	.	.	.	0.000000	0.00162	N	37.132800	1	0.08975	N	0.345	0.11182	N	-3.69	0.95317	D	-1.08	0.28084	N	0.049	0.02366	-0.2213	0.77117	T	0.406	0.75579	T	10	0.0057442784	0.00128	T	.	.	.	0.268	0.58254	.	.	0.701433802764	0.69885	0.4861409410844023	0.48534	1.10474106338	0.77854	0.753217101097	0.74922	T	0.026235	0.20004	T	-0.378581	0.03180	T	-0.299662	0.44760	T	0.00417597975361133	0.00044	T	0.865813	0.56549	D	0.10689364	0.25275	0.08029019	0.18149	0.106848985	0.25265	0.08381529	0.19236	-4.042	0.24430	T	.	.	0.079	0.19559	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.339482	0.29980	18.29	0.76031098517207896	0.11306	0.02191	0.06404	N	AEFDBI	0.047001	0.07866	N	-1.06651868995235	0.07267	0.3370809	-1.02772172087118	0.09178	0.4551633	0.0149148565773325	0.12653	0.700653	0.57754	0	0.573888	0.26702	0	0.717052	0.78885	0	0.63947	0.58350	0	.	.	4.22	3.18	0.35615	1.977000	0.40211	5.871000	0.50535	0.546000	0.25710	0.018000	0.19461	1.000000	0.68203	0.019000	0.11356	0.2058:0.0:0.7942:0.0	7.425	0.26266	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	0	0	1	0	0.003535	0.020408	0.001362	0.002941	0.000000	0.008621	0.000000	0.003788	0.05	606.43	35	chr19	13298896	.	G	A	606.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.404;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.84;ReadPosRankSum=-0.311;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,16:34:99:0|1:13298894_G_A:618,0,708:13298894	9	0	1	0
chr19	13890393	13890393	G	A	exonic	C19orf57	.	nonsynonymous SNV	C19orf57:NM_001345846:exon5:c.C109T:p.L37F,C19orf57:NM_001345847:exon5:c.C109T:p.L37F,C19orf57:NM_001345843:exon6:c.C880T:p.L294F,C19orf57:NM_001345844:exon6:c.C880T:p.L294F,C19orf57:NM_024323:exon6:c.C463T:p.L155F	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0046	0.00279553	0.0072	0.0015	0.0028	0	0.0040	0.0113	0.0026	0.0001	0.0064682	1000	154602	rs144502446	0.0070	0.0068	0.0071	0.0068	0.0078	0.0069	0.0068	0.0077	0.0076	0.0013	0.0030	0.0173	0	0.0051	0.0067	0.0078	0.0070	0.0002	0.0047	0.0047	0.0053	0.0042	0.0073	0.0044	0.0043	0.0068	0.0066	0.0013	0.0143	0.0041	0.0138	0	0.0026	0.0068	0.0073	0.0071	0.0004	0.604	0.05567	T	0.598	0.07999	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	1.67	0.27331	T	-1.19	0.30346	N	0.037	0.01825	-1.0658	0.10362	T	0.020	0.08220	T	9	0.0036529899	0.00067	T	.	.	.	0.011	0.01250	.	.	0.0297737177859	0.01360	0.012856665317013483	0.01244	0.0991058270923	0.11200	.	.	.	0.012156	0.10734	T	-0.780489	0.00011	T	-0.886219	0.00605	T	0.00558051398797225	0.00061	T	0.336666	0.07200	T	0.02566097	0.01529	0.0453923	0.06098	0.02566097	0.01529	0.0453923	0.06098	-5.561	0.42737	T	.	.	0.086	0.10497	B	.;.	.;.	-1.022119	0.00740	0.023	0.51180923202065431	0.04516	0.00471	0.02257	N	AEFBI	0.034124	0.04171	N	-2.10169368753845	0.00127	0.005439932	-2.21224444178932	0.00105	0.004618754	0.997728130125674	0.35952	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.65	-5.29	0.02535	-4.629000	0.00238	-2.031000	0.04317	-3.274000	0.00101	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.2127:0.323:0.2083	0.575	0.00656	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	0.006546	0.005051	0.010870	0.005848	0.000000	0.017241	0.003049	0.000000	0.05	784.43	37	chr19	13890393	.	G	A	784.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.97;DP=401;ExcessHet=0;FS=3.511;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.534;SOR=1.179	GT:AD:DP:GQ:PL	0/1:32,28:60:99:796,0,739	9	0	1	0
chr19	14695076	14695076	C	G	exonic	ZNF333	.	nonsynonymous SNV	ZNF333:NM_001300912:exon3:c.C70G:p.R24G,ZNF333:NM_001352244:exon3:c.C70G:p.R24G,ZNF333:NM_032433:exon3:c.C70G:p.R24G	.	428	1071	22	1	0	24	0.0110803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0048	0.00179712	0.0051	0.0012	0.0030	0	0.0012	0.0070	0.0044	0.0059	0.0050064	774	154602	rs61995698	0.0054	0.0054	0.0052	0.0056	0.0069	0.0053	0.0052	0.0062	0.0060	0.0009	0.0024	0.0217	0	0.0016	0.0069	0.0055	0.0063	0.0066	0.0037	0.0037	0.0040	0.0035	0.0056	0.0035	0.0034	0.0051	0.0049	0.0008	0.0066	0.0019	0.0219	0	0.0010	0.0034	0.0055	0.0057	0.0056	0.063	0.36709	T	0.323	0.62352	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.755	0.19153	N	4.6	0.01868	T	-0.34	0.12661	N	0.203	0.46086	-0.9369	0.43103	T	0.005	0.01651	T	9	0.0104111135	0.00232	T	.	.	.	0.026	0.05648	.	.	0.0611884634855	0.05136	0.17252882160459376	0.17172	0.385318713924	0.39823	0.195522025228	0.00338	T	0.00122	0.00717	T	-0.602352	0.00141	T	-0.635401	0.10008	T	0.0053354593183709	0.00058	T	0.844016	0.52772	T	0.040952135	0.05941	0.041216798	0.04634	0.040952135	0.05941	0.041216798	0.04634	-5.228	0.39225	T	.	.	0.185	0.56258	B	.;.;.	.;.;.	0.208017	0.05921	2.359	0.94935240856241476	0.25824	0.04830	0.10558	N	AEFDBHCI	0.041360	0.06278	N	-1.22139540723132	0.04691	0.2122363	-1.36471555759378	0.03635	0.1699831	0.00137244476311614	0.08487	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.636168	0.56350	0	.	.	2.24	-2.75	0.05564	-0.126000	0.10539	.	.	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.3614:0.2075:0.4311	3.484	0.07175	952	0.10565	.;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.005051	0.004076	0.000000	0.000000	0.000000	0.009146	0.003788	0.05	892.43	35	chr19	14695076	.	C	G	892.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=444;ExcessHet=0;FS=0.814;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.44;SOR=0.848	GT:AD:DP:GQ:PL	0/1:51,37:88:99:904,0,1191	9	0	1	0
chr19	16914686	16914686	C	T	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon28:c.G3757A:p.V1253M	Anterior segement dysgenesis 8, Autosomal recessive	421	1097	4	0	0	4	0.00181984	.	.	.	3235856	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.00241005587261	0.0002	.	4.202e-05	0.0001	8.673e-05	0.0001	0	3.045e-05	0	0	3.23e-05	5	154602	rs371740384	6.363e-05	6.362e-05	5.854e-05	6.876e-05	0.0021	5.295e-05	4.911e-05	0.0012	0.0009	2.987e-05	4.472e-05	0	5.038e-05	3.748e-05	0.0021	6.116e-05	3.313e-05	4.637e-05	5.912e-05	5.91e-05	5.137e-05	6.724e-05	0.0002	3.077e-05	2.21e-05	1.972e-05	1.124e-05	4.823e-05	0	6.542e-05	0	0	0	0	5.879e-05	0.0005	0.0002	.	.	.	0.453	0.12848	T	.	.	.	.	.	.	0.000531	0.43581	U	0.187072	0.999878	0.19925	N	.	.	.	1.35	0.34648	T	.	.	.	0.226	0.25377	-1.0974	0.04420	T	0.080	0.31586	T	9	0.1455132	0.27601	T	0.00241	0.04729	T	.	.	.	.	0.296329037015	0.29243	.	.	0.200901905111	0.22489	0.452781021595	0.32324	T	.	.	.	-0.427025	0.01545	T	-0.58674	0.13950	T	0.0601690821349621	0.07196	T	0.675332	0.28377	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.582318	0.20247	14.66	0.9338358179203875	0.23134	0.09797	0.15471	N	AEFBI	0.039163	0.05650	N	-0.553958930874403	0.20359	1.072705	-0.613063292998282	0.19158	1.026623	2.43948660974913E-6	0.01202	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	2.93	0.344	0.15244	0.983000	0.29150	-0.453000	0.09087	-0.177000	0.10537	0.711000	0.28732	0.000000	0.08366	0.405000	0.26894	0.0:0.3977:0.0:0.6023	5.829	0.17828	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	584.43	39	chr19	16914686	.	C	T	584.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.555;DP=378;ExcessHet=0;FS=3.715;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0.81;SOR=0.97	GT:AD:DP:GQ:PL	0/1:30,24:54:99:596,0,780	9	0	1	0
chr19	17154031	17154031	C	T	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_001130065:exon5:c.C1063T:p.L355F,MYO9B:NM_004145:exon5:c.C1063T:p.L355F	.	420	1091	11	0	0	11	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.740	0.356938495134	0.0004	0.000199681	0.0002	0	0.0002	0	0	0.0002	0.0033	0.0001	0.0001682	26	154602	rs188640121	0.0002	0.0002	0.0002	0.0002	0.0047	0.0002	0.0002	0.0033	0.0028	8.961e-05	0.0006	3.826e-05	0	0	0.0047	0.0002	0.0003	0.0001	0.0003	0.0003	0.0002	0.0005	0.0020	0.0003	0.0002	0.0015	0.0013	0	0	0.0020	0.0003	0	0	0.0034	0.0002	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000277	0.46590	D	0.000000	0.990556	0.41184	D	3.01	0.86067	M	-3.62	0.95077	D	-3.83	0.72120	D	0.436	0.47580	1.081	0.98897	D	0.926	0.97547	D	10	0.5154297	0.62338	D	0.356938	0.92414	D	0.740	0.90982	.	.	0.830697795113	0.82909	0.5685933574093247	0.56787	1.36181686996	0.84354	0.536704838276	0.43980	T	0.713955	0.91863	D	0.026396	0.55241	T	0.16205	0.80932	D	0.273745328187943	0.23906	T	0.881612	0.60121	D	.	.	.	.	.	.	.	.	-10.139	0.74740	D	.	.	0.727	0.75565	P	.;.;.;.	.;.;.;.	4.524919	0.70976	25.6	0.99904497049022711	0.97576	0.91574	0.53814	D	AEFDBCI	0.420251	0.48715	N	0.77194824234332	0.84325	8.256309	0.695121413246929	0.82007	7.661871	0.893366742207769	0.25904	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.15	5.15	0.70287	2.587000	0.45793	5.844000	0.50275	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	15.783	0.78052	929	0.16858	.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class IX myosin, motor domain;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class IX 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	0.006546	0.005051	0.010870	0.011696	0.000000	0.000000	0.000000	0.003788	0.05	948.43	33	chr19	17154031	.	C	T	948.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.704;DP=384;ExcessHet=0;FS=0.856;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-1.011;SOR=0.817	GT:AD:DP:GQ:PL	0/1:36,41:77:99:960,0,765	9	0	1	0
chr19	17286684	17286692	GTGTGTGTT	0	exonic	ANKLE1	.	.	.	.	522	639	135	2	224	363	0.0980946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	141.87	58	chr19	17286684	.	GTGTGTGTT	*	141.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.893;DP=543;ExcessHet=1.5895;FS=10.81;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.97;ReadPosRankSum=1.96;SOR=0.233	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,13:38:99:.:.:410,0,1000:.	7	0	3	0
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	361.99	58	chr19	17286686	.	GTGTGTT	*	361.99	.	AC=4;AF=0.2;AN=20;DP=541;ExcessHet=0.2065;FS=5.819;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=60;QD=2.46;SOR=0.337	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,13:38:99:.:.:410,0,1000:.	6	0	4	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	292.77	55	chr19	17286688	.	GTGTT	*	292.77	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.579;DP=553;ExcessHet=2.8549;FS=4.441;InbreedingCoeff=-0.2462;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=1.28;SOR=0.43	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,13:34:99:.:.:419,0,859:.	6	1	3	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1361.57	55	chr19	17286690	.	GTT	*	1361.57	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.542;DP=552;ExcessHet=5.1594;FS=4.31;InbreedingCoeff=-0.4141;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=2;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,13:26:99:.:.:672,0,501:.	6	1	3	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4100.81	50	chr19	17286692	.	T	*	4100.81	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.268;DP=564;ExcessHet=0.2348;FS=4.99;InbreedingCoeff=-0.1111;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.42;SOR=1.13	GT:AD:DP:GQ:PL	0/1:0,23:32:99:1969,272,123	2	1	7	0
chr19	17301217	17301217	C	T	exonic	ABHD8	.	nonsynonymous SNV	ABHD8:NM_024527:exon2:c.G400A:p.G134S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00652007887235	.	.	1.948e-05	0.0001	0	0	0	1.806e-05	0	0	1.29e-05	2	154602	rs773620898	1.384e-06	3.42e-06	0	2.784e-06	3.038e-05	2.3e-07	9e-08	.	.	3.038e-05	0	0	0	0	0	9.036e-07	0	0	1.314e-05	1.313e-05	1.285e-05	1.344e-05	4.824e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0	0	0.662	0.04671	T	0.46	0.12597	T	0.031	0.20130	B	0.002	0.06944	B	0.102943	0.19770	N	0.552403	0.991768	0.23986	N	1.78	0.46185	L	1.51	0.30937	T	0.32	0.03955	N	0.147	0.14905	-1.0112	0.26541	T	0.041	0.17785	T	10	0.070322335	0.10214	T	0.00652	0.17186	T	0.031	0.07369	0.194	0.10571	0.325710239843	0.32177	0.5254403611888953	0.52468	0.744691420979	0.63447	0.843164086342	0.88577	D	0.005	0.04113	T	-0.314604	0.07348	T	-0.499947	0.22353	T	0.0266595556489573	0.01497	T	0.59464	0.22023	T	0.028615313	0.02227	0.036042552	0.02971	0.028615313	0.02227	0.036042552	0.02971	-4.037	0.24355	T	.	.	0.085	0.18080	B	.;.	.;.	1.141315	0.15289	11.73	0.90797691817729742	0.20047	0.35697	0.25362	N	AEFBI	0.110955	0.21984	N	-0.943749516523671	0.09833	0.4671732	-0.921001563037939	0.11600	0.5918958	0.996898363269271	0.35096	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.528226	0.09195	0	.	.	5.09	2.98	0.33575	0.635000	0.24318	1.218000	0.24956	-0.198000	0.09030	0.000000	0.06391	0.046000	0.21717	0.002000	0.04165	0.0:0.8212:0.0:0.1788	9.157	0.36160	789	0.46346	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	803.43	34	chr19	17301217	.	C	T	803.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.06;DP=377;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.463;SOR=0.776	GT:AD:DP:GQ:PL	0/1:30,29:59:99:815,0,715	9	0	1	0
chr19	17436570	17436570	A	G	exonic	TMEM221	.	nonsynonymous SNV	TMEM221:NM_001190844:exon3:c.T764C:p.M255T	.	411	1105	6	0	0	6	0.00270758	.	.	.	3913749	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00292631923195	.	0.000199681	0.0002	0	0	0	0	0	0	0.0004	2.59e-05	4	154602	rs573622370	4.914e-05	4.652e-05	3.709e-05	6.151e-05	0.0005	3.938e-05	3.604e-05	0.0004	0.0003	0	5.602e-05	0	0	0	0	2.41e-05	3.454e-05	0.0005	3.285e-05	3.281e-05	3.856e-05	2.688e-05	0.0004	1.261e-05	7.98e-06	7.301e-05	3.033e-05	0	0	0.0001	0	0	0	0	1.471e-05	0	0.0004	0.9	0.02424	T	0.265	0.22694	T	.	.	.	.	.	.	.	.	.	.	0.995786	0.23201	N	0.805	0.20218	L	.	.	.	-0.04	0.07590	N	0.086	0.06322	-0.9794	0.35139	T	0.024	0.10013	T	5	0.018371105	0.00399	T	0.002926	0.06192	T	0.029	0.06676	0.318	0.29581	0.0482279557977	0.04254	0.1280051116978245	0.12725	.	.	0.442565858364	0.30928	T	0.014553	0.12369	T	-0.479415	0.00745	T	-0.565629	0.15852	T	0.0118093704981101	0.00183	T	0.289471	0.05256	T	0.038176417	0.05035	0.08073529	0.18288	0.038176417	0.05034	0.08073529	0.18287	-2.48	0.05646	T	.	.	0.126	0.26545	B	.	.	-0.904622	0.00918	0.034	0.36753775677044831	0.02382	0.10798	0.16200	N	AEFDGBHI	0.053828	0.09734	N	-0.943653311448718	0.09836	0.4672837	-1.05588260059252	0.08584	0.4228009	5.9702559998017E-4	0.07414	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.43	1.05	0.19280	0.723000	0.25609	-1.784000	0.04733	-0.107000	0.15377	0.070000	0.22072	0.000000	0.08366	0.016000	0.10718	0.6567:0.0:0.1861:0.1572	3.859	0.08496	653	0.62661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1169.43	37	chr19	17436570	.	A	G	1169.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.057;DP=525;ExcessHet=0;FS=1.517;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.839;SOR=0.585	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1181,0,1457	9	0	1	0
chr19	18266981	18266981	T	C	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon3:c.A559G:p.M187V,IQCN:NM_001145305:exon3:c.A421G:p.M141V,IQCN:NM_025249:exon3:c.A559G:p.M187V	.	418	1026	72	6	0	84	0.0393258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0031	0.00758786	0.0073	0.0009	0.0029	0	0.0005	0.0036	0.0112	0.0358	0.0066105	1022	154602	rs146146831	0.0046	0.0046	0.0036	0.0056	0.0358	0.0045	0.0045	0.0347	0.0343	0.0009	0.0034	0.0110	0.0001	0.0006	0.0324	0.0023	0.0066	0.0358	0.0033	0.0033	0.0028	0.0039	0.0339	0.0031	0.0030	0.0297	0.0281	0.0004	0	0.0059	0.0112	0.0002	0.0008	0.0306	0.0025	0.0066	0.0339	0.114	0.28646	T	0.244	0.48594	T	0.378	0.34287	B	0.05	0.25278	B	0.021713	0.26779	N	0.180201	1	0.08975	N	.	.	.	3.92	0.03650	T	-1.52	0.36980	N	0.203	0.22870	-0.9422	0.42266	T	0.008	0.02968	T	10	0.003352046	0.00058	T	.	.	.	0.016	0.02506	.	.	0.0482279557977	0.04254	0.05319012485728733	0.05261	0.24097835035	0.26633	0.285850286484	0.08321	T	0.029514	0.21131	T	-0.508874	0.00509	T	-0.477976	0.24662	T	0.00489690506692615	0.00053	T	0.551245	0.19298	T	0.2013452	0.42141	0.13866098	0.33107	0.2013452	0.42141	0.13866098	0.33106	-2.483	0.05666	T	.	.	0.108	0.30868	B	.;.;.;.	.;.;.;.	0.527022	0.08959	5.739	0.50393029527930266	0.04376	0.03004	0.07870	N	AEFDBCI	0.049198	0.08476	N	-0.809732432116235	0.13061	0.6408367	-0.892680457518492	0.12266	0.6299993	0.061590484083595	0.15236	0.660377	0.49826	0	0.694456	0.67091	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	3.23	2.15	0.26590	1.648000	0.36886	0.443000	0.18445	0.609000	0.47794	0.009000	0.18154	0.000000	0.08366	0.035000	0.13729	0.0:0.0:0.2574:0.7426	6.295	0.20289	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	0.022659	0.015152	0.023098	0.035088	0.000000	0.025862	0.033537	0.015152	0.05	1182.43	73	chr19	18266981	.	T	C	1182.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.288;DP=699;ExcessHet=0;FS=1.654;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-0.627;SOR=0.641	GT:AD:DP:GQ:PL	0/1:48,48:96:99:1194,0,1269	9	0	1	0
chr19	20197340	20197340	C	G	exonic	ZNF486	.	stopgain	ZNF486:NM_052852:exon4:c.C630G:p.Y210X	.	433	1072	16	1	0	18	0.00832562	.	.	.	2811883	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0047	0.00339457	0.0047	0.0016	0.0030	0.0001	0.0030	0.0061	0.0011	0.0053	0.0045278	700	154602	rs184976796	0.0057	0.0057	0.0056	0.0058	0.0064	0.0056	0.0056	0.0062	0.0062	0.0011	0.0047	0.0006	0	0.0037	0.0063	0.0064	0.0045	0.0056	0.0044	0.0044	0.0048	0.0039	0.0067	0.0041	0.0040	0.0062	0.0060	0.0016	0.0066	0.0048	0.0003	0	0.0035	0.0068	0.0067	0.0057	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.017	0.00226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0527374	0.44031	T	0.155056	0.80503	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant|Recessive	High|High	4.910334	0.80791	27.4	0.98924855435612324	0.48639	0.04990	0.10763	N	AEFDBI	0.039349	0.05702	N	-0.251276041805254	0.31053	1.737418	-0.674202188330889	0.17607	0.9369882	1.41767813861451E-5	0.02871	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	0.814	0.814	0.17897	-0.643000	0.05518	.	.	0.258000	0.18382	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:1.0:0.0:0.0	6.977	0.23863	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006566	0.000000	0.009511	0.000000	0.000000	0.017241	0.003049	0.015152	0.05	1383.43	34	chr19	20197340	.	C	G	1383.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.51;DP=477;ExcessHet=0;FS=1.549;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.15;SOR=0.53	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1395,0,1252	9	0	1	0
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	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	.	.	.	.	.	.	.	.	0.15	1141.45	50	chr19	21383191	.	G	A	1141.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.762;DP=611;ExcessHet=0.7463;FS=22.899;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.49;MQRankSum=-8.835;QD=3.29;ReadPosRankSum=-2.09;SOR=1.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,12:99:99:0|1:21383168_A_G:242,0,3617:21383168	7	0	3	0
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-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	.	.	.	.	.	.	.	.	0.15	682.45	50	chr19	21383196	.	T	C	682.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.86;DP=598;ExcessHet=0.7463;FS=20.497;InbreedingCoeff=-0.1764;MLEAC=3;MLEAF=0.15;MQ=58.72;MQRankSum=-9.572;QD=2.04;ReadPosRankSum=-2.152;SOR=2.062	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,7:94:32:0|1:21383168_A_G:32,0,3632:21383168	7	0	3	0
chr19	22976595	22976595	C	T	exonic	ZNF728	.	nonsynonymous SNV	ZNF728:NM_001267716:exon4:c.G742A:p.V248I	.	418	1088	16	0	0	16	0.00729927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00638978	0.0095	0.0006	0.0040	0.0006	0.0286	0.0083	0.0136	0.0196	0.0083569	1292	154602	rs144080172	0.0083	0.0083	0.0079	0.0086	0.0184	0.0081	0.0081	0.0176	0.0173	0.0012	0.0032	0.0048	0.0007	0.0247	0.0024	0.0076	0.0072	0.0184	0.0071	0.0070	0.0056	0.0087	0.0212	0.0067	0.0066	0.0178	0.0166	0.0011	0	0.0051	0.0041	0.0006	0.0332	0.0037	0.0070	0.0039	0.0212	.	.	.	0.473	0.12142	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.10161	N	2.3	0.16953	T	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	0.004285425	0.00086	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.0031814532368857817	0.00297	0.0224550323184	0.02262	0.225423663855	0.01647	T	0.001299	0.00775	T	-0.767209	0.00013	T	-0.859882	0.00844	T	.	.	.	0.168083	0.01566	T	0.013797643	0.00070	0.031487882	0.01744	0.013797643	0.00070	0.031487882	0.01744	-4.486	0.30705	T	.	.	0.080	0.07554	B	.	.	-0.321829	0.02522	0.300	0.40345600745476201	0.02841	0.00004	0.00092	N	AEFBHCI	0.013671	0.00190	N	.	.	.	.	.	.	2.29534227667703E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.945	-1.69	0.07747	-1.672000	0.02054	.	.	-0.751000	0.03586	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.419:0.0:0.581	5.127	0.14220	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1194.43	34	chr19	22976595	.	C	T	1194.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.007;DP=485;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.127;SOR=0.703	GT:AD:DP:GQ:PL	0/1:57,47:104:99:1206,0,1476	9	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	0.2	1287.57	84	chr19	32999679	.	G	A	1287.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.493;DP=1779;ExcessHet=1.5895;FS=0.727;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=54.17;MQRankSum=-5.929;QD=1.54;ReadPosRankSum=2.84;SOR=0.708	GT:AD:DP:GQ:PL	0/1:184,44:228:99:423,0,4746	6	0	4	0
chr19	35131998	35131998	A	C	exonic	LGI4	.	nonsynonymous SNV	LGI4:NM_139284:exon4:c.T359G:p.L120R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.581	0.352264652903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.998	0.73220	D	0.951	0.73562	D	0.004895	0.33292	N	0.130653	0.880492	0.81001	D	2.51	0.73131	M	0.07	0.61677	T	-2.75	0.60507	D	0.897	0.89689	0.099	0.84161	D	0.422	0.76684	T	10	0.9784908	0.97728	D	0.352265	0.92299	D	0.581	0.83137	0.893	0.97460	0.909415158807	0.90850	0.9013088624621514	0.90102	1.15439653339	0.79321	0.701942801476	0.67424	T	0.671541	0.90257	D	0.204576	0.74321	D	0.0560824	0.73985	D	0.992367327213287	0.82825	D	0.948505	0.80194	D	0.76217467	0.81582	0.63858205	0.78892	0.76217467	0.81583	0.63858205	0.78893	-17.897	0.99479	D	0.3018059014984798	0.39921	0.960	0.89791	P	.;.;.	.;.;.	5.258995	0.88304	29.5	0.99757995125210031	0.84851	0.99558	0.97425	D	AEFBI	0.883589	0.81262	D	0.71785536023478	0.80802	7.37591	0.611416608750583	0.75766	6.369279	0.999999909433651	0.74766	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.19	4.19	0.48645	8.932000	0.92420	11.001000	0.84769	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	11.260	0.48310	917	0.20147	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	3297.14	41	chr19	35131998	.	A	C	3297.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.087;DP=670;ExcessHet=0.2348;FS=2.346;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-1.885;SOR=0.781	GT:AD:DP:GQ:PL	0/1:80,67:147:99:1445,0,1979	8	0	2	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T,WDR87:NM_031951:exon6:c.T6461C:p.I2154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	1219.23	94	chr19	37887093	.	A	G	1219.23	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-4.045;DP=912;ExcessHet=2.8389;FS=220.707;InbreedingCoeff=-0.3793;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.52;ReadPosRankSum=0.746;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,10:73:27:0|1:37887093_A_G:27,0,1984:37887093	4	0	5	1
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1684.09	82	chr19	37887095	.	C	T	1684.09	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.008;DP=898;ExcessHet=4.5998;FS=234.958;InbreedingCoeff=-0.6664;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=2.77;ReadPosRankSum=0.853;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,10:73:27:0|1:37887093_A_G:27,0,1984:37887093	0	0	6	4
chr19	39244889	39244889	G	A	exonic	IFNL3	.	nonsynonymous SNV	IFNL3:NM_172139:exon1:c.C79T:p.L27F,IFNL3:NM_001346937:exon2:c.C91T:p.L31F	.	403	1115	4	0	0	4	0.00179051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00279553	0.0012	9.632e-05	8.64e-05	0	0	0	0.0011	0.0086	0.0010608	164	154602	rs201680991	0.0005	0.0005	0.0002	0.0007	0.0075	0.0004	0.0004	0.0070	0.0068	0	4.473e-05	0	0	0	0	1.799e-06	0.0003	0.0075	0.0002	0.0002	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	2.406e-05	0	0	0	0	0	0	0	0	0.0077	0.43	0.09543	T	0.524	0.11621	T	0.589	0.39027	P	0.122	0.32387	B	0.736970	0.09808	N	0.862148	1	0.08975	N	0.69	0.16971	N	2.47	0.14783	T	-0.62	0.18248	N	0.109	0.09490	-0.9860	0.33590	T	0.016	0.06664	T	10	0.0033676326	0.00059	T	.	.	.	0.015	0.02232	0.283	0.23961	0.0297737177859	0.01360	0.08008041072275539	0.07943	0.276752541315	0.30141	0.300304949284	0.10446	T	0.005311	0.04761	T	-0.678019	0.00049	T	-0.741717	0.03819	T	0.927309036254883	0.59008	D	0.377062	0.09013	T	0.04015777	0.05680	0.06262698	0.12281	0.04015777	0.05680	0.06262698	0.12280	-4.893	0.35656	T	.	.	0.100	0.17275	B	.;.	.;.	0.258687	0.06375	2.838	0.11735391697985101	0.00185	0.01293	0.04500	N	AEFDGI	0.031894	0.03500	N	-1.08820821815591	0.06859	0.3169788	-1.19666409138047	0.05966	0.2857517	4.17995357617156E-4	0.06899	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	3.14	-1.25	0.08920	-0.860000	0.04380	.	.	0.588000	0.31329	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1408:0.4055:0.4537:0.0	5.555	0.16400	584	0.69381	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001138	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004167	0.05	2459.43	34	chr19	39244889	.	G	A	2459.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.056;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.37;MQRankSum=0.178;QD=12;ReadPosRankSum=0.048;SOR=0.712	GT:AD:DP:GQ:PL	0/1:100,105:205:99:2471,0,2364	9	0	1	0
chr19	40617195	40617195	G	A	exonic	LTBP4	.	nonsynonymous SNV	LTBP4:NM_001042545:exon21:c.G3040A:p.E1014K,LTBP4:NM_001042544:exon24:c.G3241A:p.E1081K,LTBP4:NM_003573:exon24:c.G3130A:p.E1044K	Cutis laxa, autosomal recessive, type IC, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	1257542	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.596	.	.	0.00698882	0.0026	0.0001	0.0002	0.0001	0	0	0.0012	0.0186	0.0021992	340	154602	rs541226628	0.0011	0.0011	0.0006	0.0016	0.0177	0.0011	0.0010	0.0170	0.0167	0.0001	2.237e-05	0	7.557e-05	0	0.0003	1.079e-05	0.0012	0.0177	0.0007	0.0007	0.0004	0.0010	0.0215	0.0006	0.0006	0.0182	0.0169	7.213e-05	0	0	0	0.0002	0	0	0	0	0.0215	.	.	.	0.107	0.45961	T	1.0	0.90584	D	0.998	0.88582	D	0.001087	0.40303	N	0.000000	0.980339	0.81001	D	.	.	.	.	.	.	.	.	.	0.74	0.77978	0.699	0.93166	D	0.840	0.94663	D	9	0.011909097	0.00258	T	.	.	.	0.596	0.83965	0.583	0.70990	0.707571196339	0.70502	0.5703692011585406	0.56964	0.895510846688	0.70446	0.666666150093	0.62363	T	0.129047	0.76787	T	0.0537309	0.58821	T	0.31803	0.89008	D	0.0771758010593924	0.09621	T	0.753825	0.46176	T	0.21313031	0.43683	0.24123685	0.49516	0.19511667	0.41288	0.23232652	0.48389	-11.845	0.84087	D	.	.	0.648	0.70840	P	.;.;.	.;.;.	5.269281	0.88479	29.6	0.99916336103374936	0.98449	0.95866	0.66491	D	AEFBI	0.687413	0.64876	D	0.933598305929685	0.93304	11.95268	0.757843225491464	0.86742	8.987668	0.999999695775457	0.74766	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	4.19	4.19	0.48645	3.198000	0.50738	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	15.810	0.78327	749	0.51929	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	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	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.007576	0.1	2648.14	33	chr19	40617195	.	G	A	2648.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.931;DP=474;ExcessHet=0.2348;FS=0.59;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=2.06;SOR=0.619	GT:AD:DP:GQ:PL	0/1:37,43:80:99:1130,0,1033	8	0	2	0
chr19	41584430	41584430	C	T	exonic	CEACAM21	.	stopgain	CEACAM21:NM_001098506:exon4:c.C784T:p.R262X,CEACAM21:NM_001290113:exon4:c.C397T:p.R133X,CEACAM21:NM_033543:exon4:c.C781T:p.R261X,CEACAM21:NM_001288773:exon5:c.C400T:p.R134X	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	8.389e-05	0.0002	0	0	0	2.548e-05	0	0.0004	5.17e-05	8	154602	rs568421412	6.465e-05	6.635e-05	4.921e-05	8.028e-05	0.0006	5.39e-05	5.003e-05	0.0004	0.0004	5.999e-05	0	0	0.0002	0	0	3.069e-05	1.663e-05	0.0006	9.198e-05	9.187e-05	7.713e-05	0.0001	0.0008	5.527e-05	4.364e-05	0.0003	0.0002	0.0001	0	6.54e-05	0	0	0	0	4.411e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999986	0.54805	A	.	.	.	.	.	.	.	.	.	0.034	0.00942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0587832	0.59460	T	0.174622	0.81684	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Tolerant	.;.;High	4.648874	0.74080	26.1	0.93670412390119573	0.23566	0.00125	0.00780	N	AEFBI	0.027050	0.02141	N	-0.264749021892834	0.30519	1.702471	-0.682383687831159	0.17402	0.9251175	9.27357188301096E-5	0.04910	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	1.16	-0.0482	0.13169	-0.126000	0.10539	-1.639000	0.05008	-3.106000	0.00123	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6024:0.3976:0.0:0.0	3.906	0.08685	839	0.37672	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1927.14	35	chr19	41584430	.	C	T	1927.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.74;DP=500;ExcessHet=0.2348;FS=0.54;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-0.702;SOR=0.747	GT:AD:DP:GQ:PL	0/1:63,47:110:99:1115,0,1390	8	0	2	0
chr19	42240097	42240097	C	A	exonic	GSK3A	.	nonsynonymous SNV	GSK3A:NM_019884:exon2:c.G329T:p.G110V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.0761684454369	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1285630690	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.028	0.54934	D	0.977	0.58535	D	0.599	0.50715	P	0.000160	0.49130	D	0.139320	1	0.81001	D	1.04	0.26193	L	1.38	0.69536	T	-6.0	0.89534	D	0.808	0.80375	-0.4299	0.71070	T	0.298	0.66914	T	10	0.7102798	0.72999	D	0.076168	0.72467	D	0.360	0.68052	0.356	0.35734	0.898236776464	0.89722	0.8613371955392976	0.86097	2.15529414545	0.95345	0.80333840847	0.82473	D	0.866228	0.97072	D	0.23943	0.77607	D	0.203002	0.83290	D	0.973077476024628	0.69949	D	0.989923	0.96830	D	0.806033	0.84293	0.6908007	0.81805	0.806033	0.84295	0.6908007	0.81806	-12.16	0.85622	D	.	.	0.525	0.65723	A	.;.;.	.;.;.	4.916850	0.80951	27.4	0.995443829330667	0.70711	0.98899	0.88348	D	AEFBI	0.876655	0.80079	D	0.526754671959987	0.68678	5.250248	0.588854973770847	0.74139	6.086504	1.0	0.98316	0.736574	0.97449	0	0.698795	0.70079	0	0.732669	0.93749	0	0.711	0.71501	0	.	.	5.22	5.22	0.72285	7.542000	0.81035	7.637000	0.63009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.928	0.88909	774	0.48577	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1910.43	35	chr19	42240097	.	C	A	1910.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.086;DP=509;ExcessHet=0;FS=0.536;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-0.758;SOR=0.748	GT:AD:DP:GQ:PL	0/1:97,89:186:99:1922,0,2236	9	0	1	0
chr19	42271989	42271989	G	A	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001304815:exon2:c.G206A:p.R69Q,CIC:NM_001379480:exon2:c.G206A:p.R69Q,CIC:NM_001379482:exon2:c.G206A:p.R69Q	.	381	1087	50	4	0	58	0.0259857	.	.	.	2752947	Intellectual_disability,_autosomal_dominant_45|CIC-related_disorder	MONDO:MONDO:0030910,MedGen:C4539848,OMIM:617600|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.00419329	0	0	.	.	0	0	.	.	0.0036115	94	26028	rs188464728	0.0030	0.0019	0.0030	0.0029	0.0244	0.0028	0.0027	0.0178	0.0155	0.0007	0.0035	0.0050	0.0001	0.0013	0.0244	0.0030	0.0032	0.0187	0.0026	0.0026	0.0025	0.0028	0.0201	0.0024	0.0023	0.0168	0.0156	0.0004	0	0.0036	0.0026	0.0010	0.0008	0.0136	0.0029	0.0038	0.0201	.	.	.	0.409	0.14588	T	.	.	.	.	.	.	.	.	.	.	0.999967	0.18878	N	.	.	.	-5.0	0.98525	D	.	.	.	0.074	0.04790	.	.	.	.	.	.	.	0.0054611266	0.00120	T	.	.	.	.	.	.	.	0.58454684225	0.58127	.	.	.	.	.	.	.	0.003292	0.31165	T	-0.326754	0.06361	T	-0.247063	0.50106	T	.	.	.	0.541546	0.26514	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01859	B	.;.	.;.	0.516583	0.08853	5.633	0.80446239995739754	0.13207	0.31796	0.24427	N	AEFBCI	0.051563	0.09122	N	.	.	.	.	.	.	0.999988671698017	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.08	-5.5	0.02373	-0.685000	0.05269	-1.411000	0.05502	-0.874000	0.02518	0.000000	0.06391	0.000000	0.08366	0.425000	0.27339	0.5491:0.1939:0.2569:0.0	6.592	0.21847	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1347.14	36	chr19	42271989	.	G	A	1347.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.192;DP=399;ExcessHet=0.2348;FS=1.593;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.952;SOR=0.508	GT:AD:DP:GQ:PL	0/1:22,27:49:99:673,0,588	8	0	2	0
chr19	42272348	42272348	C	A	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001304815:exon2:c.C565A:p.P189T,CIC:NM_001379480:exon2:c.C565A:p.P189T,CIC:NM_001379482:exon2:c.C565A:p.P189T	.	493	1016	13	0	0	13	0.00635697	.	.	.	1687354	not_specified|CIC-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00159744	.	.	.	.	.	.	.	.	0.0021899	57	26028	rs543498277	0.0017	0.0008	0.0018	0.0016	0.0131	0.0016	0.0015	0.0084	0.0069	0.0007	0.0028	0.0042	0	0.0006	0.0131	0.0018	0.0019	0.0082	0.0015	0.0015	0.0014	0.0016	0.0089	0.0013	0.0013	0.0068	0.0060	0.0003	0	0.0031	0.0020	0	0.0006	0.0136	0.0015	0.0019	0.0089	.	.	.	0.152	0.32249	T	.	.	.	.	.	.	.	.	.	.	0.994921	0.23412	N	.	.	.	-5.06	0.98629	D	.	.	.	0.231	0.25989	.	.	.	.	.	.	.	0.011315763	0.00248	T	.	.	.	.	.	.	.	0.62136615551	0.61829	.	.	.	.	.	.	.	0.012308	0.10839	T	-0.219127	0.18111	T	-0.100767	0.63339	T	.	.	.	0.640436	0.25296	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14706	B	.	.	2.520873	0.32578	19.08	0.98787946920913361	0.46237	0.76396	0.37464	D	AEFBCI	0.107073	0.21344	N	.	.	.	.	.	.	0.999994729941838	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.09	1.91	0.24841	1.927000	0.39724	2.635000	0.33717	0.599000	0.40250	0.972000	0.34453	1.000000	0.68203	0.659000	0.32940	0.1765:0.7262:0.0:0.0973	6.711	0.22466	662	0.61715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1420.43	36	chr19	42272348	.	C	A	1420.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.959;DP=443;ExcessHet=0;FS=4.898;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=1.28;SOR=0.365	GT:AD:DP:GQ:PL	0/1:44,61:105:99:1432,0,1017	9	0	1	0
chr19	43176069	43176069	T	G	exonic	PSG5	.	nonsynonymous SNV	PSG5:NM_001130014:exon3:c.A510C:p.E170D,PSG5:NM_002781:exon3:c.A510C:p.E170D	.	11	1445	66	0	0	66	0.0223275	.	.	.	2340841	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.000670184073519	.	.	2.475e-05	9.716e-05	0	0	0	3.001e-05	0	0	3.84e-05	1	26028	rs200537553	2.743e-06	0.0003	1.365e-06	4.136e-06	9.005e-07	6.4e-07	4.3e-07	.	.	0	0	0	0	5.652e-05	0	9.005e-07	0	0	2.651e-05	0.0007	3.885e-05	1.358e-05	6.632e-05	8.2e-06	5.18e-06	4.91e-06	1.84e-06	0	0	6.632e-05	0	0	0	0	2.958e-05	0.0005	0	0.826	0.02913	T	0.283	0.21612	T	0.0	0.02946	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.71	0.44315	L	2.67	0.12473	T	-0.85	0.23156	N	0.162	0.25377	-1.0311	0.20099	T	0.038	0.16548	T	9	0.05737266	0.06580	T	6.7E-4	0.00383	T	0.066	0.19193	0.698	0.83499	0.16115917748	0.15686	0.10525158950099638	0.10455	0.0238137571014	0.02414	.	.	.	0.002523	0.01914	T	-0.313722	0.07424	T	-0.688417	0.06481	T	0.120045120196503	0.14434	T	0.564843	0.19943	T	0.06523243	0.13921	0.056585502	0.10137	0.06523243	0.13920	0.056585502	0.10137	-5.305	0.39993	T	.	.	0.203	0.44682	B	.;.;.;.;.	.;.;.;.;.	0.243443	0.06232	2.687	0.96375077285061395	0.29597	0.00284	0.01530	N	AEFI	0.034589	0.04311	N	-0.999019992406806	0.08625	0.4051179	-1.174052176649	0.06346	0.3051872	1.09731146299496E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.23	0.1	0.13817	-0.869000	0.04340	.	.	0.476000	0.22017	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.3406:0.0:0.6594	2.779	0.05026	798	0.45050	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	938.14	120	chr19	43176069	.	T	G	938.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.891;DP=1745;ExcessHet=0.2348;FS=0.923;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=53.56;MQRankSum=-6.276;QD=1.16;ReadPosRankSum=4.56;SOR=0.78	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:342,31:373:99:0|1:43176063_C_T:272,0,14081:43176063	8	0	2	0
chr19	43195052	43195052	C	A	exonic	PSG4	.	stopgain	PSG4:NM_001276495:exon3:c.G652T:p.E218X,PSG4:NM_001316339:exon3:c.G565T:p.E189X,PSG4:NM_002780:exon4:c.G931T:p.E311X	.	14	1445	63	0	0	63	0.0213342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00439297	0.0054	9.628e-05	0.0013	0.0001	0.0012	0.0033	0.0055	0.0246	0.0047606	736	154602	rs147584129	0.0038	0.0038	0.0031	0.0045	0.0246	0.0037	0.0037	0.0237	0.0234	0.0004	0.0017	0.0092	0.0001	0.0007	0.0154	0.0024	0.0042	0.0246	0.0024	0.0025	0.0020	0.0029	0.0235	0.0022	0.0021	0.0200	0.0187	0.0005	0	0.0016	0.0076	0.0004	0.0006	0.0034	0.0025	0.0033	0.0235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.053	0.02462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00454612	0.51026	T	0.238947	0.85101	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;.	High;.;.	6.631227	0.95511	35	0.98047665674102158	0.37843	0.02893	0.07682	N	AEFI	0.065985	0.12899	N	0.0948068697086606	0.46220	2.865795	-0.329135309425047	0.27162	1.505306	3.08458017946517E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.45	1.45	0.21708	0.768000	0.26252	.	.	-0.748000	0.03609	0.084000	0.22438	0.000000	0.08366	0.003000	0.05239	0.0:1.0:0.0:0.0	6.272	0.20167	814	0.42100	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;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	0.018605	0.013699	0.010929	0.034483	0.000000	0.000000	0.025000	0.032787	0.15	7772.45	262	chr19	43195052	.	C	A	7772.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.64;DP=1055;ExcessHet=0.7463;FS=1.745;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=54.21;MQRankSum=-8.608;QD=10.09;ReadPosRankSum=1.2;SOR=0.591	GT:AD:DP:GQ:PL	0/1:144,115:259:99:2464,0,3512	7	0	3	0
chr19	45138592	45138592	A	G	exonic	PPP1R37	.	nonsynonymous SNV	PPP1R37:NM_019121:exon2:c.A281G:p.K94R	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0201002044893	.	0.00119808	0.0029	0	0	0	0	0	0	0.0047	0.0002846	44	154602	rs556098955	0.0004	0.0003	0.0002	0.0005	0.0056	0.0003	0.0003	0.0052	0.0050	0	0	0	0	0	0	1.581e-05	0.0003	0.0056	0.0001	0.0001	9.167e-05	0.0002	0.0046	9.923e-05	8.411e-05	0.0031	0.0026	2.437e-05	0	0	0	0	0	0	0	0	0.0046	0.246	0.17353	T	0.135	0.34124	T	0.473	0.36591	P	0.1	0.30674	B	0.000027	0.55875	D	0.115163	0.996988	0.43549	D	0.69	0.16971	N	0.62	0.53302	T	-1.38	0.34198	N	0.428	0.46742	-1.0872	0.06013	T	0.082	0.32237	T	10	0.009864211	0.00221	T	0.020	0.42623	T	0.097	0.27909	0.295	0.25881	0.241664281697	0.23763	0.3623328137889258	0.36147	.	.	0.488511919975	0.37232	T	0.008333	0.07654	T	-0.426233	0.01562	T	-0.384078	0.35245	T	0.189226498679949	0.19799	T	0.713029	0.32487	T	0.1488567	0.33964	0.1003509	0.23991	0.1488567	0.33964	0.1003509	0.23991	-6.395	0.49471	T	.	.	0.087	0.11269	B	.	.	4.000348	0.58941	24.0	0.99357701882587957	0.60862	0.98617	0.84749	D	AEFDGBI	0.929003	0.91408	D	0.0106329400120594	0.42338	2.549089	0.116088472383014	0.45372	2.801472	0.999966815252751	0.48965	0.741868	0.97996	0	0.633563	0.54681	0	0.774882	0.98623	0	0.613276	0.41899	0	.	.	4.54	3.5	0.39181	6.882000	0.75391	9.213000	0.79249	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8191:0.1809:0.0:0.0	9.347	0.37276	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	0.001214	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	652.14	35	chr19	45138592	.	A	G	652.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.111;DP=412;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=5.18;ReadPosRankSum=0.309;SOR=0.636	GT:AD:DP:GQ:PL	0/1:44,18:62:99:304,0,1044	8	0	2	0
chr19	45144962	45144962	C	T	exonic	PPP1R37	.	nonsynonymous SNV	PPP1R37:NM_019121:exon9:c.C1096T:p.L366F	.	406	1102	14	0	0	14	0.00631199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.828	.	.	0.00299521	0.0055	0.0018	0.0110	0	0	0.0048	0.0076	0.0061	0.0020828	322	154602	rs146723120	0.0098	0.0093	0.0099	0.0098	0.0113	0.0097	0.0096	0.0111	0.0110	0.0016	0.0026	0.0008	2.801e-05	0.0110	0.0033	0.0113	0.0078	0.0054	0.0077	0.0077	0.0077	0.0076	0.0117	0.0073	0.0072	0.0111	0.0108	0.0022	0.0493	0.0022	0.0006	0.0004	0.0141	0	0.0117	0.0038	0.0072	0.004	0.65419	D	0.086	0.40909	T	.	.	.	.	.	.	0.013611	0.28787	N	0.318910	0.999719	0.48481	D	2.85	0.82803	M	-1.5	0.81318	D	-3.37	0.66665	D	0.868	0.86511	0.031	0.82872	D	0.435	0.77510	T	8	0.013455033	0.00285	T	.	.	.	0.828	0.94541	.	.	0.598116539115	0.59492	0.7204627216306844	0.71989	.	.	0.755184829235	0.75213	T	0.252006	0.62233	T	0.0177854	0.54082	T	0.263159	0.86239	D	0.0185308713044781	0.00569	T	0.905609	0.66735	D	0.30629918	0.53463	0.31038934	0.57050	0.30629918	0.53463	0.31038934	0.57049	-7.431	0.57123	T	.	.	0.875	0.81176	P	.	.	4.347695	0.66745	25.0	0.99879613756968999	0.95572	0.84915	0.44010	D	AEFDBI	0.479137	0.52141	N	0.273710996863994	0.54821	3.64675	0.257900779730125	0.53099	3.480709	0.999716271027713	0.42101	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.66	3.63	0.40741	3.234000	0.51019	3.942000	0.40610	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.972000	0.54974	0.0:0.9035:0.0:0.0965	10.267	0.42637	929	0.16858	.	.	.	.	.	rs146723120	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003326	0.000000	0.000000	0.000000	0.000000	0.000000	0.010417	0.000000	0.05	1279.43	38	chr19	45144962	.	C	T	1279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.283;DP=420;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.651;SOR=0.865	GT:AD:DP:GQ:PL	0/1:39,56:95:99:1291,0,891	9	0	1	0
chr19	45796039	45796039	G	A	exonic	RSPH6A	.	nonsynonymous SNV	RSPH6A:NM_030785:exon6:c.C1984T:p.P662S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.022907408339	.	0.000599042	0.0005	0	8.64e-05	0	0	0	0	0.0037	0.000414	64	154602	rs577242494	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0034	0.0033	0	2.237e-05	0	0	0	0	0	0.0001	0.0037	9.203e-05	9.188e-05	2.572e-05	0.0002	0.0029	5.53e-05	4.367e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	0.03	0.45393	D	0.007	0.69154	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.613011	0.32638	D	2.39	0.68882	M	1.75	0.26152	T	-6.37	0.91058	D	0.722	0.74280	-0.6448	0.62940	T	0.155	0.48550	T	10	0.05384752	0.05640	T	0.022907	0.45838	T	0.271	0.58633	0.653	0.79068	0.246773566709	0.24272	0.716266081504198	0.71569	0.478316878913	0.46915	0.49934720993	0.38736	T	0.207589	0.56728	T	-0.401312	0.02270	T	-0.350071	0.39196	T	0.14916477342403	0.17036	T	0.638636	0.25495	T	0.4274042	0.62582	0.4804461	0.69910	0.4274042	0.62582	0.4804461	0.69911	-6.493	0.50232	T	.	.	0.311	0.53838	B	.;.	.;.	4.513395	0.70700	25.6	0.99903144355144935	0.97426	0.95662	0.65626	D	AEFI	0.794929	0.72249	D	0.699307618809292	0.79585	7.109213	0.641185947001469	0.77957	6.78021	0.999999123276188	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.25	4.25	0.49658	6.193000	0.71999	9.627000	0.81118	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	14.616	0.68148	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	.	.	.	.	.	.	.	.	0.1	2204.14	33	chr19	45796039	.	G	A	2204.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2;DP=449;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=2.09;SOR=0.674	GT:AD:DP:GQ:PL	0/1:31,38:69:99:985,0,629	8	0	2	0
chr19	45815053	45815053	C	T	exonic	RSPH6A	.	nonsynonymous SNV	RSPH6A:NM_030785:exon1:c.G124A:p.E42K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00678813160548	.	.	0.0001	0	0	0	0	0	0	0.0009	9.7e-05	15	154602	rs779379990	5.817e-05	5.814e-05	3.54e-05	8.116e-05	0.0009	4.811e-05	4.433e-05	0.0008	0.0007	0	0	0	0	3.781e-05	0	0	3.312e-05	0.0009	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0	0.0004	0.039	0.42487	D	0.452	0.16280	T	0.421	0.35387	B	0.055	0.25995	B	0.002003	0.00849	N	3.707800	1	0.08975	N	0.975	0.24501	L	2.38	0.19860	T	-0.76	0.21215	N	0.265	0.33904	-1.0284	0.20973	T	0.029	0.12453	T	10	0.017505616	0.00374	T	0.006788	0.17953	T	0.041	0.10877	0.145	0.04843	0.115124310173	0.11017	0.27755270705073937	0.27668	0.114985143858	0.12974	0.442571520805	0.30929	T	0.018614	0.14973	T	-0.554336	0.00275	T	-0.60442	0.12442	T	0.0553966191110962	0.06423	T	0.650635	0.26150	T	0.054562982	0.10487	0.0848366	0.19544	0.054562982	0.10486	0.0848366	0.19544	-5.201	0.38952	T	.	.	0.095	0.23325	B	.;.	.;.	1.819098	0.23114	15.89	0.99366227593854295	0.61240	0.12132	0.17079	N	AEFDBCI	0.067628	0.13304	N	-0.762410070206934	0.14298	0.7111056	-0.835302361159191	0.13641	0.7087477	0.99997156411594	0.50053	0.421363	0.06395	0	0.550933	0.16991	0	0.179345	0.04352	3	0.554799	0.18163	0	.	.	3.94	1.74	0.23636	1.500000	0.35290	0.782000	0.21490	0.599000	0.40250	0.010000	0.18352	0.001000	0.17328	0.126000	0.19410	0.238:0.6386:0.0:0.1234	3.998	0.09056	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	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1762.14	35	chr19	45815053	.	C	T	1762.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.435;DP=449;ExcessHet=0.2348;FS=1.235;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.534;SOR=0.574	GT:AD:DP:GQ:PL	0/1:49,42:91:99:948,0,1295	8	0	2	0
chr19	47725925	47725925	G	A	exonic	EHD2	.	nonsynonymous SNV	EHD2:NM_014601:exon4:c.G616A:p.A206T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.772	0.341854372435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.133	0.41074	T	0.939	0.52645	P	0.611	0.51118	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.395	0.35261	L	-3.69	0.95317	D	-2.84	0.63323	D	0.655	0.67218	0.729	0.93532	D	0.821	0.93980	D	10	0.69782674	0.72255	D	0.341854	0.92036	D	0.772	0.92336	0.405	0.43738	0.738570925959	0.73623	0.8039836876037527	0.80352	0.793696552197	0.65932	0.713210105896	0.69058	T	0.708883	0.91680	D	0.215432	0.75344	D	0.0716774	0.75023	D	0.974225103855133	0.70419	D	0.986501	0.95398	D	0.4618836	0.64788	0.43320188	0.66881	0.4618836	0.64788	0.43320188	0.66881	-8.461	0.67600	D	.	.	0.179	0.46179	B	.;.	.;.	4.649478	0.74094	26.1	0.9991327098802012	0.98238	0.96558	0.69741	D	AEFDGBHI	0.756293	0.69560	D	0.403867492454189	0.61634	4.367228	0.382804446641032	0.60504	4.238809	0.999999999999917	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.0	0.00061	3	0.711	0.71501	0	.	.	3.66	3.66	0.41111	7.948000	0.87248	11.614000	0.93566	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.805000	0.37950	0.0:0.0:1.0:0.0	13.284	0.59666	796	0.45353	Dynamin-type guanine nucleotide-binding (G) 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	.	.	.	.	.	.	.	.	0.05	2290.43	33	chr19	47725925	.	G	A	2290.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.439;DP=546;ExcessHet=0;FS=0.496;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=0.395;SOR=0.76	GT:AD:DP:GQ:PL	0/1:121,99:220:99:2302,0,2788	9	0	1	0
chr19	48345297	48345297	C	T	exonic	TMEM143	.	nonsynonymous SNV	TMEM143:NM_001303538:exon3:c.G322A:p.D108N,TMEM143:NM_018273:exon4:c.G427A:p.D143N	.	431	1072	19	0	0	19	0.0087841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	.	0.0072	0.00379393	0.0081	0.0014	0.0108	0	0.0015	0.0114	0.0059	0.0035	0.0076713	1186	154602	rs34488893	0.0086	0.0086	0.0088	0.0084	0.0098	0.0084	0.0084	0.0096	0.0096	0.0013	0.0096	0.0083	0	0.0027	0.0084	0.0098	0.0086	0.0029	0.0063	0.0063	0.0062	0.0064	0.0101	0.0060	0.0059	0.0088	0.0084	0.0025	0.0121	0.0101	0.0058	0	0.0016	0.0306	0.0092	0.0076	0.0023	0.2	0.23997	T	0.0	0.92824	D	0.009	0.20732	B	0.007	0.16012	B	0.000018	0.62929	D	0.000000	0.647612	0.81001	D	2.095	0.58118	M	0.81	0.49358	T	-1.23	0.31170	N	0.315	0.36148	-1.0577	0.12337	T	0.073	0.29419	T	10	0.004316032	0.00087	T	.	.	.	0.140	0.37593	.	.	0.292062946507	0.28806	0.5104324674942305	0.50965	0.291305071471	0.31533	0.473314523697	0.35136	T	0.040388	0.25509	T	-0.603541	0.00139	T	-0.629334	0.10466	T	0.0141490791173392	0.00277	T	0.752425	0.37456	T	0.14458154	0.33180	0.1222838	0.29499	0.14458154	0.33180	0.1222838	0.29498	-4.601	0.32184	T	.	.	0.111	0.36174	B	.;.;.	.;.;.	3.197432	0.43469	21.7	0.99240108211587252	0.56501	0.85516	0.44656	D	AEFDBI	0.393075	0.47086	N	-0.357937413184623	0.26981	1.47683	-0.241450322178204	0.30068	1.689757	0.978063105480638	0.29883	0.695654	0.57023	0	0.723109	0.82256	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.33	4.33	0.51083	3.270000	0.51303	4.728000	0.44539	0.549000	0.26987	0.990000	0.36992	1.000000	0.68203	0.788000	0.37229	0.0:1.0:0.0:0.0	15.989	0.79977	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.015152	0.006793	0.000000	0.000000	0.000000	0.012195	0.003788	0.05	804.43	37	chr19	48345297	.	C	T	804.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.636;DP=393;ExcessHet=0;FS=2.97;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.671;SOR=1.061	GT:AD:DP:GQ:PL	0/1:43,37:80:99:816,0,1010	9	0	1	0
chr19	50791771	50791771	C	T	exonic	ACP4	.	nonsynonymous SNV	ACP4:NM_033068:exon4:c.C419T:p.P140L	.	.	.	.	.	.	.	.	.	.	.	1015152	Amelogenesis_imperfecta	Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.574	0.207660314198	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1371134137	4.798e-06	4.788e-06	6.819e-06	2.756e-06	7.564e-05	2e-06	1.28e-06	2.005e-05	1.056e-05	0	2.247e-05	0	7.564e-05	0	0	2.7e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.635	0.99338	H	1.88	0.23884	T	-9.43	0.98401	D	0.96	0.96984	-0.6189	0.64034	T	0.202	0.55891	T	10	0.98738027	0.99101	D	0.20766	0.87105	D	0.574	0.82742	0.892	0.97414	0.126345400529	0.12197	0.8174035606882466	0.81697	0.567331723874	0.53003	0.798939704895	0.81802	T	0.376312	0.73973	T	0.246534	0.78275	D	0.199218	0.83084	D	0.982794046401978	0.74707	D	0.972603	0.90144	D	0.82119566	0.85300	0.699551	0.82300	0.82119566	0.85302	0.699551	0.82301	-10.398	0.76259	D	0.7223140284445471	0.80348	0.679	0.72120	P	.	.	4.760906	0.76968	26.6	0.99885062741259578	0.96049	0.91628	0.53926	D	AEFDBHCI	0.613813	0.60136	D	0.600358190757522	0.73198	5.927052	0.467591732296627	0.65855	4.876688	0.999999999977713	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.0	0.00061	3	0.562822	0.20929	0	.	.	4.87	4.87	0.62877	6.492000	0.73560	7.365000	0.58365	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.028000	0.12845	0.0:1.0:0.0:0.0	15.873	0.78917	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	275.43	35	chr19	50791771	.	C	T	275.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.293;DP=305;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.616;SOR=0.693	GT:AD:DP:GQ:PL	0/1:13,13:26:99:287,0,302	9	0	1	0
chr19	53068979	53068979	T	C	exonic	ZNF160	.	nonsynonymous SNV	ZNF160:NM_001322136:exon5:c.A1555G:p.S519G,ZNF160:NM_001322129:exon6:c.A1555G:p.S519G,ZNF160:NM_001322131:exon6:c.A1555G:p.S519G,ZNF160:NM_001322135:exon6:c.A1555G:p.S519G,ZNF160:NM_033288:exon6:c.A1555G:p.S519G,ZNF160:NM_001102603:exon7:c.A1555G:p.S519G,ZNF160:NM_001322128:exon7:c.A1555G:p.S519G,ZNF160:NM_001322130:exon7:c.A1555G:p.S519G,ZNF160:NM_001322132:exon7:c.A1555G:p.S519G,ZNF160:NM_001322133:exon7:c.A1555G:p.S519G,ZNF160:NM_001322134:exon7:c.A1555G:p.S519G,ZNF160:NM_001322138:exon7:c.A1447G:p.S483G,ZNF160:NM_198893:exon7:c.A1555G:p.S519G,ZNF160:NM_001322137:exon8:c.A1447G:p.S483G,ZNF160:NM_001322139:exon9:c.A1447G:p.S483G	.	362	1151	8	1	0	10	0.00432526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00209075876345	.	0.000199681	0.0003	0	0	0	0	2.997e-05	0	0.0018	0.000207	32	154602	rs200276728	0.0001	0.0001	6.806e-05	0.0002	0.0016	0.0001	9.833e-05	0.0014	0.0013	0	0	0	0	0	0.0002	1.888e-05	0.0002	0.0016	4.598e-05	4.594e-05	2.571e-05	6.717e-05	0.0010	2.109e-05	1.526e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.941e-05	0	0.0010	0.172	0.22660	T	0.159	0.35455	T	0.998	0.73220	D	0.796	0.58006	P	.	.	.	.	1	0.08975	N	1.06	0.26948	L	3.18	0.07478	T	-3.08	0.63323	D	0.048	0.02861	-1.0088	0.27292	T	0.019	0.07893	T	9	0.013474643	0.00286	T	0.002091	0.03855	T	0.047	0.12962	0.464	0.53404	0.171388866994	0.16791	0.040058727402730844	0.03951	0.749576938025	0.63700	0.295720815659	0.09765	T	0.131981	0.46179	T	-0.610948	0.00125	T	-0.657145	0.08460	T	0.0872179200446261	0.10885	T	0.79772	0.44184	T	0.15585148	0.35202	0.10675747	0.25688	0.15585148	0.35201	0.10675747	0.25688	-5.482	0.41700	T	.	.	0.316	0.54213	B	.;.;.;.;.	.;.;.;.;.	1.752434	0.22296	15.56	0.97398537508219962	0.33760	0.00153	0.00922	N	AEFBCI	0.041226	0.06238	N	-0.626760234602297	0.18144	0.9396112	-0.84322114708684	0.13450	0.6978239	2.70257518746824E-4	0.06244	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.41	0.082	0.13739	0.629000	0.24229	.	.	0.643000	0.52288	0.007000	0.17678	0.000000	0.08366	0.299000	0.24476	0.1991:0.2596:0.0:0.5412	2.655	0.04705	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;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	.	.	.	.	.	.	.	.	0.05	2302.43	34	chr19	53068979	.	T	C	2302.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.245;DP=677;ExcessHet=0;FS=1.915;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.92;MQRankSum=1.07;QD=13.87;ReadPosRankSum=0.9;SOR=0.554	GT:AD:DP:GQ:PL	0/1:78,88:166:99:2314,0,2028	9	0	1	0
chr19	54155817	54155817	T	G	exonic	LENG1	.	nonsynonymous SNV	LENG1:NM_024316:exon4:c.A699C:p.E233D	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00331538677278	0.0009	0.000599042	0.0009	0.0008	0.0007	0.0023	0	0.0009	0.0027	0.0005	0.000705	109	154602	rs146921339	0.0006	0.0006	0.0006	0.0006	0.0042	0.0005	0.0005	0.0029	0.0024	0.0008	0.0008	0	0.0013	1.9e-05	0.0042	0.0005	0.0008	0.0005	0.0006	0.0006	0.0007	0.0005	0.0019	0.0005	0.0004	0.0010	0.0007	0.0008	0	0.0003	0	0.0012	0	0.0034	0.0005	0.0009	0.0019	0.41	0.10148	T	0.202	0.27414	T	.	.	.	.	.	.	0.000931	0.00711	N	10.451800	0.999996	0.08975	N	.	.	.	0.82	0.48142	T	-1.1	0.28497	N	0.09	0.06854	-0.9557	0.39970	T	0.169	0.50842	T	10	0.004676223	0.00098	T	0.003315	0.07359	T	0.062	0.17934	0.11	0.02049	0.33835085245	0.33439	0.16810999960807635	0.16730	0.0208642183432	0.02063	0.48943144083	0.37359	T	.	.	.	-0.579198	0.00195	T	-0.623769	0.10891	T	0.0190144803108184	0.00610	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10304	B	.	.	-0.575392	0.01640	0.114	0.97684303309218157	0.35335	0.15684	0.19032	N	AEFDBHCI	0.093529	0.18923	N	-1.2269822642748	0.04612	0.2085157	-1.38205659021072	0.03443	0.160615	0.999945673737073	0.47345	0.631515	0.41029	0	0.697927	0.68747	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.17	-2.72	0.05616	-3.251000	0.00597	.	.	-0.915000	0.02235	0.000000	0.06391	0.052000	0.21854	0.003000	0.05239	0.0:0.3636:0.1387:0.4978	5.792	0.17630	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001517	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	672.43	34	chr19	54155817	.	T	G	672.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.042;DP=387;ExcessHet=0;FS=2.208;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.637;SOR=0.404	GT:AD:DP:GQ:PL	0/1:27,32:59:99:684,0,659	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	102.39	52	chr19	54221344	.	C	CCGG	102.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=476;ExcessHet=0;FS=17.065;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.69;MQRankSum=1.29;QD=2.77;ReadPosRankSum=-2.172;SOR=3.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,5:37:99:0|1:54221256_T_C:114,0,1329:54221256	9	0	1	0
chr19	54221348	54221348	-	ACTGAG	exonic	LILRB3	.	nonframeshift insertion	LILRB3:NM_001081450:exon5:c.689_690insCTCAGT:p.Q231_A630delinsSVQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*,LILRB3:NM_001320960:exon5:c.689_690insCTCAGT:p.L230delinsLSV,LILRB3:NM_006864:exon5:c.689_690insCTCAGT:p.K230_L604delinsNSVPSLLTLQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*	.	40	1377	86	2	17	107	0.0316456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.611e-05	0.0006	2.863e-05	2.352e-05	0.0004	1.911e-05	1.696e-05	0.0002	0.0002	0.0003	0.0004	0	8.523e-05	4.043e-05	0	6.539e-06	3.528e-05	2.565e-05	2.706e-05	0.0007	0	5.539e-05	7.634e-05	8.32e-06	5.26e-06	2.024e-05	1.061e-05	7.634e-05	0	0	0	0	0	0	1.488e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	102.39	47	chr19	54221348	.	C	CACTGAG	102.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.638;DP=464;ExcessHet=0;FS=17.065;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.96;MQRankSum=1.18;QD=2.77;ReadPosRankSum=-2.189;SOR=3.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,5:37:99:0|1:54221256_T_C:114,0,1309:54221256	9	0	1	0
chr19	55087331	55087331	G	A	exonic	EPS8L1	.	nonsynonymous SNV	EPS8L1:NM_017729:exon14:c.G1600A:p.G534R,EPS8L1:NM_133180:exon19:c.G1981A:p.G661R	.	.	.	.	.	.	.	.	.	.	.	3671341	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.594	0.205932614112	.	.	0.0002	0	0	0.0023	0	0	0	0	0.0001035	16	154602	rs577392527	6.031e-05	6.02e-05	5.591e-05	6.476e-05	0.0020	4.971e-05	4.635e-05	0.0017	0.0015	0	0	0	0.0020	0	0	1.8e-06	6.649e-05	2.327e-05	4.596e-05	4.593e-05	5.139e-05	4.028e-05	0.0008	2.108e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	1.47e-05	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000578	0.43250	D	0.192830	1	0.81001	D	3.42	0.91902	M	-0.01	0.62762	T	-7.31	0.95305	D	0.79	0.78641	0.087	0.83944	D	0.470	0.79621	T	10	0.53926057	0.63625	D	0.205933	0.87012	D	0.594	0.83857	0.757	0.88648	0.695673701671	0.69304	0.7779599578529227	0.77745	1.0017946729	0.74433	0.72983700037	0.71482	T	0.448486	0.79494	T	-0.0925813	0.37651	T	0.0641579	0.74522	D	0.539944362852598	0.34102	D	0.866813	0.58915	D	0.88180476	0.89816	0.8620714	0.92321	0.88180476	0.89817	0.8620714	0.92321	-14.331	0.94083	D	.	.	0.870	0.84754	P	.;.;.;.	.;.;.;.	5.524215	0.91810	32	0.99830121862200205	0.91198	0.90852	0.52383	D	ALL	0.857240	0.77457	D	0.52037463976133	0.68294	5.197661	0.352716818440246	0.58670	4.039078	0.999999999999999	0.74766	0.72623	0.87236	0	0.609123	0.50646	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	4.02	4.02	0.45968	6.116000	0.71264	6.481000	0.55737	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.593000	0.31214	0.0:0.0:1.0:0.0	14.413	0.66694	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	977.43	34	chr19	55087331	.	G	A	977.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=414;ExcessHet=0;FS=3.919;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-2.214;SOR=0.85	GT:AD:DP:GQ:PL	0/1:52,41:93:99:989,0,1174	9	0	1	0
chr19	56032678	56032678	C	T	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon8:c.C2344T:p.H782Y	.	423	1096	3	0	0	3	0.00136674	.	.	.	742130	NLRP5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.275	.	.	0.00219649	0.0014	0	0	0	0	0	0.0011	0.0099	0.0011643	180	154602	rs577329143	0.0006	0.0006	0.0003	0.0009	0.0100	0.0006	0.0006	0.0094	0.0092	5.974e-05	0	0	0	0	0.0003	6.296e-06	0.0007	0.0100	0.0003	0.0003	0.0002	0.0005	0.0101	0.0003	0.0002	0.0079	0.0071	2.405e-05	0	0	0	0	0	0	0	0	0.0101	0.114	0.28646	T	0.09	0.40267	T	0.773	0.44016	P	0.285	0.40506	B	0.322249	0.04081	N	1.570170	1	0.08975	N	1.445	0.36358	L	-2.55	0.89561	D	-2.82	0.59545	D	0.136	0.13341	-0.4095	0.71726	T	0.596	0.85565	D	10	0.012106985	0.00261	T	.	.	.	0.275	0.59130	0.425	0.47021	0.655252992372	0.65237	0.11425488526759034	0.11353	0.0277034684457	0.02835	0.288168340921	0.08655	T	0.349518	0.71736	T	-0.488488	0.00662	T	-0.466494	0.25896	T	0.120404414611017	0.14469	T	0.646635	0.25786	T	0.05983277	0.12206	0.071719706	0.15391	0.05983277	0.12205	0.071719706	0.15391	-5.247	0.39416	T	.	.	0.082	0.08948	B	.;.	.;.	0.577378	0.09458	6.237	0.92357357041159305	0.21760	0.01374	0.04687	N	AEFDBI	0.029794	0.02878	N	-0.733236453017967	0.15093	0.7575935	-0.911964827490416	0.11812	0.604019	1.66394303621064E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.64	-0.115	0.12899	-1.442000	0.02514	0.947000	0.22895	-0.786000	0.03287	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4645:0.3449:0.1906:0.0	4.556	0.11532	967	0.07127	.;.	.	.	.	.	.	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	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2869.43	34	chr19	56032678	.	C	T	2869.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.961;DP=560;ExcessHet=0;FS=3.563;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.785;SOR=0.6	GT:AD:DP:GQ:PL	0/1:120,121:241:99:2881,0,2883	9	0	1	0
chr19	56442142	56442142	T	C	exonic	ZNF667	.	nonsynonymous SNV	ZNF667:NM_022103:exon5:c.A853G:p.K285E,ZNF667:NM_001321355:exon6:c.A682G:p.K228E,ZNF667:NM_001321356:exon7:c.A853G:p.K285E	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0007	0.00179712	0.0018	0	0.0010	0	0.0005	0.0011	0.0044	0.0073	0.0016429	254	154602	rs61740676	0.0011	0.0011	0.0009	0.0014	0.0075	0.0011	0.0011	0.0070	0.0068	0.0001	0.0007	0.0003	0	0.0002	0.0047	0.0008	0.0014	0.0075	0.0009	0.0009	0.0009	0.0009	0.0075	0.0008	0.0007	0.0055	0.0049	0.0002	0	0.0013	0	0	0	0	0.0010	0.0009	0.0075	0.821	0.02951	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.208724	0.03371	N	1.674900	1	0.08975	N	-0.04	0.05001	N	1.74	0.26301	T	1.02	0.01369	N	0.18	0.19459	-0.9517	0.40678	T	0.022	0.09467	T	10	0.0065746307	0.00149	T	.	.	.	0.013	0.01715	.	.	0.15556083564	0.15200	0.10657271369223385	0.10587	0.151848470416	0.17138	0.219145566225	0.01261	T	3.55E-4	0.01432	T	-0.65079	0.00072	T	-0.703306	0.05647	T	0.0184695826267453	0.00563	T	0.0211645	0.00700	T	0.038967323	0.05292	0.04279775	0.05179	0.038967323	0.05291	0.04279775	0.05179	-4.344	0.28789	T	.	.	0.149	0.33039	B	.;.;.	.;.;.	-0.155148	0.03328	0.582	0.17765566777017688	0.00531	0.06742	0.12763	N	AEBCI	0.068570	0.13532	N	-1.80583441221974	0.00531	0.02286186	-1.83561495927138	0.00652	0.0289824	0.00498625705129191	0.10786	0.475973	0.10046	0	0.573888	0.26702	0	0.670488	0.60580	0	0.564101	0.26826	0	.	.	5.05	-6.97	0.01459	-2.666000	0.00919	.	.	-0.417000	0.05242	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.5388:0.2417:0.2195	10.418	0.43521	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	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.050000	0.000000	0.006098	0.000000	0.05	1450.43	34	chr19	56442142	.	T	C	1450.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=487;ExcessHet=0;FS=2.759;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=0.568;SOR=0.431	GT:AD:DP:GQ:PL	0/1:39,55:94:99:1462,0,900	9	0	1	0
chr19	57972498	57972498	G	T	exonic	C19orf18	.	nonsynonymous SNV	C19orf18:NM_152474:exon3:c.C233A:p.S78Y	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.0133405295004	.	.	8.252e-06	0	0	0	0	0	0	6.082e-05	6.5e-06	1	154602	rs758741294	1.368e-06	1.368e-06	0	2.75e-06	2.519e-05	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.104	0.38160	T	0.852	0.47012	P	0.211	0.37346	B	.	.	.	.	1	0.08975	N	1.5	0.37844	L	0.18	0.60361	T	-1.44	0.35399	N	0.163	0.17140	-1.0270	0.21429	T	0.072	0.29355	T	9	0.12094131	0.22917	T	0.013341	0.32667	T	0.138	0.37187	0.265	0.21103	0.0297737177859	0.01360	0.07795182192576185	0.07731	0.369485843614	0.38475	.	.	.	0.022864	0.17556	T	-0.333969	0.05816	T	-0.535972	0.18694	T	0.113625757396221	0.13795	T	0.380662	0.09189	T	0.04793263	0.08274	0.04748329	0.06847	0.04793263	0.08274	0.04748329	0.06847	-5.669	0.43417	T	.	.	0.119	0.24329	B	.	.	0.641967	0.10104	6.851	0.91771427402881767	0.21074	0.01313	0.04547	N	AEFBI	0.041047	0.06187	N	-1.23389690616436	0.04516	0.203992	-1.45877111708427	0.02692	0.1242668	0.159036127419817	0.17563	0.615465	0.37627	0	0.588066	0.40923	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	3.04	-6.08	0.01969	-1.121000	0.03381	.	.	-0.180000	0.10397	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.308:0.3838:0.1792:0.1291	1.899	0.03066	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	700.43	33	chr19	57972498	.	G	T	700.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.02;DP=377;ExcessHet=0;FS=2.219;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.488;SOR=0.926	GT:AD:DP:GQ:PL	0/1:27,30:57:99:712,0,654	9	0	1	0
chr19	58212452	58212452	A	G	exonic	ZNF274	.	nonsynonymous SNV	ZNF274:NM_016324:exon5:c.A956G:p.N319S,ZNF274:NM_016325:exon7:c.A1175G:p.N392S,ZNF274:NM_001278734:exon8:c.A1145G:p.N382S,ZNF274:NM_133502:exon8:c.A1271G:p.N424S	.	426	1078	16	0	2	18	0.00736648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00918949002761	0.0010	0.000998403	0.0010	0.0002	0.0008	0	0	0.0012	0.0011	0.0016	0.0009444	146	154602	rs190213013	0.0014	0.0014	0.0013	0.0014	0.0068	0.0013	0.0013	0.0051	0.0045	0.0003	0.0009	0	0	1.876e-05	0.0068	0.0015	0.0018	0.0016	0.0010	0.0010	0.0011	0.0009	0.0015	0.0009	0.0008	0.0013	0.0012	0.0002	0.0220	0.0009	0	0	0	0	0.0015	0.0009	0.0015	.	.	.	1.0	0.01155	T	0.473	0.36591	P	0.088	0.29688	B	0.274199	0.03791	N	1.646620	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.011	0.00445	-1.0017	0.29430	T	0.008	0.02760	T	8	0.004541546	0.00094	T	0.009189	0.24154	T	0.024	0.04979	.	.	0.207176502487	0.20327	0.042041687510274914	0.04149	0.235332845833	0.26065	0.206556916237	0.00673	T	0.026574	0.19638	T	-0.675816	0.00051	T	-0.75677	0.03230	T	0.0034575339530296	0.00036	T	0.463454	0.13490	T	0.033697676	0.03639	0.04140205	0.04698	0.033697676	0.03638	0.04140205	0.04697	-5.31	0.43228	T	.	.	0.103	0.35288	B	.;.;.;.;.	.;.;.;.;.	-0.826013	0.01057	0.046	0.22980009723723005	0.00950	0.00068	0.00484	N	AEFDBHCI	0.031618	0.03417	N	-1.72447613793533	0.00758	0.03275647	-1.87319309313305	0.00552	0.02450146	0.176455474352768	0.17811	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	0.235	-0.47	0.11525	-0.130000	0.10477	-0.833000	0.07248	-0.462000	0.05112	0.000000	0.06391	0.009000	0.19889	0.031000	0.13245	.	.	.	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	0.003021	0.005051	0.004076	0.000000	0.000000	0.017241	0.003049	0.000000	0.1	3422.14	39	chr19	58212452	.	A	G	3422.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.44;DP=633;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.899;SOR=0.678	GT:AD:DP:GQ:PL	0/1:103,59:162:99:1397,0,2556	8	0	2	0
chr20	353433	353433	T	C	exonic	NRSN2	.	nonsynonymous SNV	NRSN2:NM_001323680:exon4:c.T413C:p.M138T,NRSN2:NM_001323681:exon4:c.T413C:p.M138T,NRSN2:NM_001323685:exon4:c.T413C:p.M138T,NRSN2:NM_024958:exon4:c.T413C:p.M138T,NRSN2:NM_001323682:exon5:c.T413C:p.M138T,NRSN2:NM_001323683:exon5:c.T413C:p.M138T,NRSN2:NM_001323684:exon5:c.T413C:p.M138T	.	.	.	.	.	.	.	.	.	.	.	3359283	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.00253502302236	.	.	.	.	.	.	.	.	.	.	.	.	.	rs917712322	1.231e-05	1.231e-05	1.497e-05	9.626e-06	1.619e-05	7.7e-06	6.35e-06	1.012e-05	8.35e-06	0	0	0	0	0	0	1.619e-05	0	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.262	0.16466	T	0.186	0.47581	T	0.0	0.02946	B	0.0	0.01387	B	0.496762	0.05068	N	1.279960	1	0.08975	N	1.1	0.28011	L	2.33	0.16492	T	-0.5	0.15782	N	0.087	0.07949	-0.9902	0.32551	T	0.040	0.17362	T	10	0.061744004	0.07788	T	0.002535	0.05065	T	0.011	0.01250	0.442	0.49811	0.0551355673512	0.04727	0.30023226502146505	0.29936	0.247549296302	0.27304	0.298125982285	0.10122	T	0.003967	0.11224	T	-0.297139	0.08932	T	-0.64911	0.09016	T	0.017400617876515	0.00478	T	0.430757	0.11694	T	0.016668627	0.00214	0.04453407	0.05791	0.016668627	0.00213	0.04453407	0.05791	-1.761	0.02395	T	.	.	0.073	0.04764	B	.;.;.;.	.;.;.;.	-0.267064	0.02765	0.373	0.27816353052468407	0.01399	0.01897	0.05819	N	AEFDBI	0.078388	0.15815	N	-1.05070870787632	0.07574	0.3522884	-1.09286301062711	0.07840	0.3829763	0.425514450338456	0.20327	0.732398	0.92422	0	0.643519	0.57511	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.66	1.1	0.19578	-0.136000	0.10384	1.055000	0.23671	-0.133000	0.13014	0.000000	0.06391	0.946000	0.28899	0.229000	0.22707	0.0:0.322:0.0:0.678	6.292	0.20270	951	0.11083	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	929.43	34	chr20	353433	.	T	C	929.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.023;DP=418;ExcessHet=0;FS=2.689;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.497;SOR=0.693	GT:AD:DP:GQ:PL	0/1:53,43:96:99:941,0,1327	9	0	1	0
chr20	3148406	3148406	T	C	exonic	FASTKD5	.	nonsynonymous SNV	FASTKD5:NM_021826:exon2:c.A665G:p.H222R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.014954345043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.577e-06	9.577e-06	1.225e-05	6.876e-06	0.0003	5.56e-06	4.35e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-06	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.121	0.35840	T	0.993	0.65571	D	0.796	0.58006	P	0.006376	0.32080	N	0.132116	1	0.81001	D	2.515	0.73286	M	2.44	0.15145	T	-2.29	0.50992	N	0.471	0.50688	-1.0737	0.08619	T	0.046	0.19720	T	10	0.32221422	0.49574	T	0.014954	0.35393	T	0.164	0.42212	0.391	0.41443	0.310458034454	0.30648	0.28966821529293757	0.28879	0.382706904123	0.39604	0.448393911123	0.31725	T	0.050247	0.28540	T	-0.0905129	0.37990	T	-0.367792	0.37146	T	0.91414475440979	0.57067	D	0.508249	0.16142	T	0.055329464	0.10739	0.09641478	0.22907	0.055329464	0.10738	0.09641478	0.22906	-4.757	0.34086	T	.	.	0.325	0.54876	B	.	.	3.451966	0.48069	22.6	0.98622727819252065	0.43798	0.94245	0.60556	D	AEFBCI	0.484817	0.52467	N	0.186823077964043	0.50566	3.245407	0.212628582345707	0.50547	3.245652	0.949933261760798	0.27870	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	3.61	0.40494	4.511000	0.60181	4.619000	0.44068	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.1222:0.0:0.1284:0.7494	9.238	0.36640	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1439.43	35	chr20	3148406	.	T	C	1439.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.639;DP=479;ExcessHet=0;FS=1.27;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.906;SOR=0.726	GT:AD:DP:GQ:PL	0/1:89,67:156:99:1451,0,2190	9	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	.	.	.	.	.	.	.	.	0.4375	1195.34	115	chr20	3803192	.	G	C	1195.34	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-1.757;DP=1072;ExcessHet=7.0302;FS=201.816;InbreedingCoeff=-0.6709;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=1.67;SOR=11.816	GT:AD:DP:GQ:PL	0/1:80,44:130:99:159,0,1108	1	0	7	2
chr20	10049705	10049705	C	T	exonic	ANKEF1	.	nonsynonymous SNV	ANKEF1:NM_198798:exon6:c.C1136T:p.A379V,ANKEF1:NM_001303472:exon7:c.C569T:p.A190V,ANKEF1:NM_022096:exon7:c.C1136T:p.A379V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.0507228094859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	0.08237	T	1.0	0.01155	T	0.954	0.54400	P	0.437	0.45591	B	0.000426	0.44522	D	0.248859	0.976597	0.39290	D	1.79	0.46772	L	-0.15	0.65192	T	-0.22	0.10480	N	0.581	0.60241	-0.8033	0.54950	T	0.214	0.57560	T	10	0.6874958	0.71651	D	0.050723	0.64362	D	0.233	0.53499	0.619	0.75347	0.7457264781	0.74343	0.5138078995225664	0.51302	0.716833638651	0.62019	0.534552574158	0.43675	T	0.008667	0.07944	T	0.0446227	0.57649	T	-0.173679	0.57107	T	0.755097210407257	0.43572	D	0.757524	0.38090	T	0.07955835	0.18183	0.08178266	0.18613	0.07955835	0.18183	0.08178266	0.18613	-2.095	0.03562	T	.	.	0.28	0.51419	B	.;.	.;.	2.403080	0.30876	18.57	0.86540061954191816	0.16604	0.82540	0.41753	D	AEFDIJ	0.161342	0.28738	N	0.245821332840929	0.53431	3.512139	0.260173255748146	0.53229	3.492999	0.0330069554246567	0.14084	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.6	5.6	0.84997	3.887000	0.55910	5.937000	0.51416	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.135000	0.19760	0.0:0.862:0.138:0.0	15.463	0.75106	949	0.11373	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	.	.	.	.	.	.	.	.	0.2	317.55	81	chr20	10049705	.	C	T	317.55	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.332;DP=805;ExcessHet=1.5895;FS=229.965;InbreedingCoeff=-0.2493;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=0.222;SOR=9.688	GT:AD:DP:GQ:PL	0/1:41,17:58:42:42,0,909	6	0	4	0
chr20	17975704	17975704	C	T	exonic	MGME1	.	nonsynonymous SNV	MGME1:NM_001363738:exon3:c.C292T:p.R98W,MGME1:NM_052865:exon3:c.C532T:p.R178W,MGME1:NM_001310338:exon4:c.C577T:p.R193W	Mitochondrial DNA depletion syndrome 11, Autosomal recessive	438	1079	5	0	0	5	0.0023116	.	.	.	438876	not_provided|Mitochondrial_DNA_depletion_syndrome_11	MedGen:C3661900|MONDO:MONDO:0014039,MedGen:C3554462,OMIM:615084,Orphanet:352447	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.671	.	0.0032	0.00219649	0.0042	0.0010	0.0011	0	0.0165	0.0054	0.0055	0.0007	0.0043208	668	154602	rs143417446	0.0057	0.0057	0.0059	0.0056	0.0063	0.0056	0.0056	0.0062	0.0061	0.0009	0.0015	0.0023	0	0.0151	0.0014	0.0063	0.0049	0.0007	0.0043	0.0043	0.0042	0.0044	0.0058	0.0040	0.0039	0.0053	0.0051	0.0012	0.0011	0.0027	0.0017	0	0.0144	0	0.0058	0.0033	0.0004	0.077	0.53172	T	0.113	0.36901	T	0.996	0.68779	D	0.663	0.52893	P	0.535039	0.11597	N	0.798993	1	0.81001	D	2.08	0.57402	M	0.9	0.46028	T	-2.08	0.47514	N	0.687	0.76296	-1.0329	0.19522	T	0.092	0.35228	T	10	0.008896202	0.00201	T	.	.	.	0.671	0.87820	.	.	0.564094393547	0.56072	0.52699069047774	0.52623	0.109337524117	0.12337	0.196669816971	0.00366	T	0.015923	0.21190	T	-0.464948	0.00915	T	-0.436916	0.29154	T	0.030974595485354	0.02142	T	0.594241	0.25103	T	0.21189569	0.43527	0.088061295	0.20510	0.22310755	0.44925	0.09451987	0.22375	-8.07	0.61546	D	0.2913666882063881	0.38796	0.107	0.22428	B	.;.	.;.	4.180714	0.62939	24.5	0.99920452701939011	0.98721	0.97725	0.76683	D	AEFBI	0.571564	0.57550	D	0.3142665459232	0.56879	3.853546	0.302518660635743	0.55685	3.731617	0.99999985021651	0.74766	0.732398	0.92422	0	0.71359	0.82159	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.49	4.55	0.55429	5.691000	0.67911	1.807000	0.28930	0.599000	0.40250	0.897000	0.31356	0.229000	0.23770	0.935000	0.47363	0.0:0.8552:0.0:0.1448	11.489	0.49619	782	0.47442	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	509.43	36	chr20	17975704	.	C	T	509.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.848;DP=324;ExcessHet=0;FS=3.058;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.063;SOR=0.269	GT:AD:DP:GQ:PL	0/1:19,23:42:99:521,0,490	9	0	1	0
chr20	33306964	33306964	G	A	exonic	BPIFB1	.	nonsynonymous SNV	BPIFB1:NM_033197:exon15:c.G1372A:p.A458T	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0024276967128	0.0004	0.000199681	0.0002	0	0.0003	0	0.0002	0.0003	0.0011	0.0002	0.0002264	35	154602	rs142612737	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0006	0.0004	5.974e-05	0.0004	0.0003	0	3.744e-05	0.0012	0.0003	0.0003	0.0001	0.0002	0.0002	0.0003	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	7.212e-05	0	0.0005	0	0	0.0003	0.0034	0.0003	0.0009	0	0.562	0.06341	T	0.299	0.20422	T	0.023	0.18885	B	0.012	0.16012	B	0.233799	0.03536	N	1.583250	1	0.08975	N	1.04	0.26193	L	3.24	0.06845	T	0.03	0.06612	N	0.061	0.03283	-0.9717	0.36841	T	0.015	0.06234	T	10	0.019562542	0.00438	T	0.002428	0.04785	T	0.079	0.23065	.	.	0.0551355673512	0.04727	0.11313821962502961	0.11241	0.172788980557	0.19455	0.230882942677	0.02034	T	0.001109	0.00619	T	-0.595015	0.00156	T	-0.776319	0.02566	T	0.0121603045941184	0.00195	T	0.454055	0.12934	T	0.041686036	0.06185	0.053449728	0.09004	0.041686036	0.06185	0.053449728	0.09003	-3.497	0.16389	T	.	.	0.084	0.09530	B	.	.	0.645019	0.10137	6.879	0.69389018155303894	0.08956	0.01084	0.03998	N	AEFDBI	0.031260	0.03302	N	-1.05724297677758	0.07446	0.3459258	-1.11583973759372	0.07397	0.3596563	0.0272146901132478	0.13760	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.567892	0.33627	0	.	.	4.63	-2.16	0.06684	-0.032000	0.12217	0.461000	0.18618	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.070000	0.16646	0.2502:0.1654:0.2489:0.3354	0.180	0.00114	49	0.97662	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	974.43	34	chr20	33306964	.	G	A	974.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.488;DP=387;ExcessHet=0;FS=1.014;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=0.238;SOR=0.954	GT:AD:DP:GQ:PL	0/1:22,41:63:99:986,0,497	9	0	1	0
chr20	37112363	37112363	G	A	exonic	MROH8	.	unknown	UNKNOWN	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0002	.	0.0004	0	0	0	0.0017	0.0004	0.0034	0.0002	0.0002975	46	154602	rs200835735	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	0	0	0.0010	0	0.0009	0.0009	0.0001	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0001	2.404e-05	0	0	0.0006	0	0.0013	0	0.0002	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.005435	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	2212.43	38	chr20	37112363	.	G	A	2212.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.052;DP=540;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-0.2;SOR=0.718	GT:AD:DP:GQ:PL	0/1:105,100:205:99:2224,0,2344	9	0	1	0
chr20	37155121	37155121	C	T	exonic	MROH8	.	unknown	UNKNOWN	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0158731169405	.	0.000199681	7.454e-05	0	0.0003	0	0	5.995e-05	0	0.0001	6.47e-05	10	154602	rs186733407	3.785e-05	3.147e-05	3.425e-05	4.151e-05	0.0002	2.901e-05	2.595e-05	0.0002	0.0001	0	0.0002	0	0	0	0.0002	1.887e-05	2.273e-05	0.0002	3.939e-05	3.937e-05	1.285e-05	6.714e-05	0.0002	1.714e-05	1.129e-05	1.972e-05	1.124e-05	0	0	6.539e-05	0	0	0	0	5.881e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.613	0.51171	P	0.001250	0.39669	N	0.173435	0.762118	0.34051	D	.	.	.	3.39	0.05710	T	-3.2	0.64710	D	0.568	0.59138	-0.9679	0.37632	T	0.052	0.22269	T	10	0.23239979	0.40235	T	0.015873	0.36838	T	0.135	0.36572	.	.	0.104622674875	0.10061	.	.	.	.	0.257571160793	0.04606	T	.	.	.	-0.34118	0.05306	T	-0.443145	0.28456	T	0.823643505573273	0.48045	D	0.747925	0.36851	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.793129	0.54605	23.5	0.99932779221440138	0.99439	0.50569	0.28693	D	AEFDBHCI	0.249846	0.37000	N	0.43490081598097	0.63353	4.567301	0.364219806103615	0.59370	4.114124	0.999999999722781	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.57	4.6	0.56512	1.341000	0.33512	1.232000	0.25050	0.587000	0.30956	0.980000	0.35271	0.558000	0.25505	0.448000	0.27851	0.1745:0.8255:0.0:0.0	11.870	0.51795	342	0.85871	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1336.43	36	chr20	37155121	.	C	T	1336.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.978;DP=466;ExcessHet=0;FS=2.436;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=1.07;SOR=0.87	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1348,0,1252	9	0	1	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	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	.	.	.	.	.	.	.	.	0.25	290.81	57	chr20	41100210	.	T	C	290.81	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.473;DP=484;ExcessHet=2.8389;FS=197.43;InbreedingCoeff=-0.3399;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.29;ReadPosRankSum=0.027;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,7:35:9:.:.:9,0,458:.	5	0	5	0
chr20	45176026	45176026	G	A	exonic	PI3	.	nonsynonymous SNV	PI3:NM_002638:exon2:c.G245A:p.R82Q	.	.	.	.	.	.	.	.	.	.	.	2378139	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.065	0.0104703001374	0.0002	0.000199681	0.0001	0	0	0.0010	0	7.492e-05	0	6.056e-05	0.0001035	16	154602	rs142652976	7.867e-05	7.867e-05	8.167e-05	7.563e-05	0.0017	6.666e-05	6.201e-05	0.0014	0.0012	0	0	0	0.0017	0	0	3.867e-05	1.656e-05	4.637e-05	3.283e-05	3.281e-05	3.855e-05	2.686e-05	0.0006	1.26e-05	7.98e-06	0.0002	8.398e-05	0	0	0	0	0.0006	0	0	2.941e-05	0	0	0.376	0.11334	T	0.456	0.12740	T	0.372	0.34134	B	0.046	0.24676	B	0.444547	0.12585	N	0.662303	1	0.08975	N	0.86	0.21358	L	-0.59	0.71543	T	-2.02	0.46503	N	0.069	0.04188	-1.0101	0.26886	T	0.162	0.49847	T	10	0.05697897	0.06472	T	0.01047	0.27045	T	0.065	0.18881	.	.	0.370240404367	0.36630	0.14407067592340914	0.14330	0.195488186159	0.21887	0.192969977856	0.00282	T	0.296525	0.66915	T	-0.414196	0.01865	T	-0.51273	0.21035	T	0.0883855819702148	0.11024	T	0.642236	0.25428	T	0.122968845	0.28884	0.09502169	0.22517	0.122968845	0.28884	0.09502169	0.22516	-4.027	0.24206	T	.	.	0.111	0.21466	B	.	.	0.270203	0.06479	2.956	0.81462455988067217	0.13697	0.00354	0.01821	N	AEFDBI	0.031306	0.03316	N	-1.01980558105216	0.08193	0.3833036	-1.12894341660731	0.07151	0.3468001	0.998032557285209	0.36340	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.49	-2.06	0.06894	-1.665000	0.02067	-3.961000	0.02426	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4974:0.0:0.5026:0.0	8.893	0.34603	894	0.26265	WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' 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	.	.	.	.	.	.	.	.	0.05	3035.43	33	chr20	45176026	.	G	A	3035.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=810;ExcessHet=0;FS=0.912;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.467;SOR=0.772	GT:AD:DP:GQ:PL	0/1:147,132:279:99:3047,0,3258	9	0	1	0
chr20	51516880	51516880	G	C	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.C1176G:p.I392M,NFATC2:NM_001258292:exon3:c.C1176G:p.I392M,NFATC2:NM_001258294:exon3:c.C579G:p.I193M,NFATC2:NM_001258295:exon3:c.C579G:p.I193M,NFATC2:NM_001258296:exon3:c.C579G:p.I193M,NFATC2:NM_001258297:exon3:c.C579G:p.I193M,NFATC2:NM_012340:exon3:c.C1236G:p.I412M,NFATC2:NM_173091:exon3:c.C1236G:p.I412M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	0.0789016952258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.51248	D	0.002	0.79402	D	0.993	0.65571	D	0.976	0.73562	D	0.000004	0.62929	D	0.101064	0.999857	0.49910	D	2.34	0.67151	M	-0.2	0.66113	T	-2.69	0.57435	D	0.855	0.85238	-0.5339	0.67394	T	0.326	0.69461	T	10	0.8859699	0.87925	D	0.078902	0.73111	D	0.394	0.70924	0.749	0.87988	0.788164834858	0.78620	0.7815461693347541	0.78105	1.17859640205	0.79955	0.59225153923	0.51811	T	0.581341	0.86295	D	0.0715492	0.61036	D	-0.135001	0.60547	T	0.960401177406311	0.65796	D	0.892711	0.62952	D	0.7231571	0.79338	0.43122634	0.66747	0.7231571	0.79339	0.43122634	0.66747	-10.085	0.74621	D	.	.	0.166	0.41141	B	.;.;.;.;.;.	.;.;.;.;.;.	0.644535	0.10131	6.875	0.99379905945032365	0.61847	0.22706	0.21836	N	AEFDBHCI	0.179575	0.30687	N	-0.383253309869517	0.26065	1.419718	-0.552818545628636	0.20731	1.118268	0.774347602473775	0.23726	0.562547	0.31514	0	0.653731	0.59785	0	0.608075	0.38828	0	0.635551	0.53088	0	.	.	5.25	-2.82	0.05442	-1.509000	0.02368	-5.415000	0.01727	-1.331000	0.01216	0.000000	0.06391	0.000000	0.08366	0.843000	0.39806	0.33:0.0:0.5555:0.1145	9.859	0.40272	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding 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	.	.	.	.	.	.	.	.	0.05	804.43	38	chr20	51516880	.	G	C	804.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.475;DP=450;ExcessHet=0;FS=1.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=0.018;SOR=0.918	GT:AD:DP:GQ:PL	0/1:59,38:97:99:816,0,1356	9	0	1	0
chr20	62394240	62394240	G	C	exonic	CABLES2	.	nonsynonymous SNV	CABLES2:NM_031215:exon5:c.C631G:p.Q211E	.	.	.	.	.	.	.	.	.	.	.	3428052	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.221	0.0613659809706	.	.	2.494e-05	0	0	0	0	3.037e-05	0	6.061e-05	1.94e-05	3	154602	rs771284501	2.669e-05	2.668e-05	2.043e-05	3.302e-05	0.0001	1.998e-05	1.755e-05	6.246e-05	4.757e-05	0	0.0001	0	0	0	0	1.169e-05	0.0002	0.0001	1.313e-05	1.312e-05	1.284e-05	1.343e-05	6.533e-05	2.18e-06	8.2e-07	.	.	0	0	6.533e-05	0	0	0	0.0034	0	0	0	0.045	0.40832	D	0.013	0.63109	D	0.858	0.47274	P	0.41	0.44785	B	0.000012	0.62929	D	0.119541	1	0.81001	D	2.63	0.76995	M	0.73	0.50721	T	-1.91	0.44471	N	0.414	0.45426	-0.6525	0.62605	T	0.195	0.54927	T	10	0.34215295	0.51252	T	0.061366	0.68307	D	0.221	0.51721	0.175	0.08135	0.434825671192	0.43100	0.2688563676423325	0.26798	1.22376613677	0.81152	0.628279089928	0.56900	T	0.144926	0.48180	T	-0.153499	0.27767	T	-0.261295	0.48695	T	0.190714166543136	0.19886	T	0.90181	0.65830	D	0.32747856	0.55264	0.2943476	0.55465	0.32747856	0.55264	0.2943476	0.55464	-4.26	0.27612	T	.	.	0.278	0.51121	B	.	.	3.629312	0.51397	23.1	0.99500911973223094	0.68031	0.97317	0.73990	D	AEFGBCI	0.882476	0.81062	D	0.546459969328908	0.69868	5.418377	0.542989693119556	0.70913	5.57538	0.999999999999985	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	5.33	5.33	0.75683	9.459000	0.96801	11.589000	0.93393	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.334000	0.25294	0.0:0.0:1.0:0.0	19.379	0.94513	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	.	.	.	.	.	.	.	.	0.1	4309.12	34	chr20	62394240	.	G	C	4309.12	.	AC=2;AF=0.1;AN=20;DP=450;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31;SOR=0.862	GT:AD:DP:GQ:PL	1/1:0,139:139:99:4332,417,0	9	1	0	0
chr20	62754880	62754880	G	A	exonic	NTSR1	.	nonsynonymous SNV	NTSR1:NM_002531:exon2:c.G910A:p.V304I	.	406	1074	42	0	0	42	0.0191781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	.	0.0062	0.0225639	0.0144	0.0082	0.0088	0.0506	0.0007	0.0101	0.0099	0.0238	0.0103815	1605	154602	rs2273075	0.0081	0.0080	0.0077	0.0085	0.0368	0.0079	0.0079	0.0353	0.0346	0.0072	0.0073	0.0064	0.0368	0.0014	0.0200	0.0061	0.0102	0.0227	0.0090	0.0090	0.0089	0.0091	0.0352	0.0086	0.0084	0.0310	0.0294	0.0072	0	0.0121	0.0049	0.0352	0.0011	0.0204	0.0073	0.0099	0.0300	0.038	0.42783	D	0.11	0.37310	T	0.084	0.24799	B	0.024	0.20255	B	0.007801	0.31194	N	0.254669	0.999893	0.50595	D	1.265	0.31966	L	1.19	0.37578	T	-0.3	0.11913	N	0.182	0.19728	-1.0637	0.10855	T	0.032	0.13898	T	10	0.008374959	0.00190	T	.	.	.	0.193	0.47281	.	.	.	.	0.509259065189681	0.50847	0.376781133715	0.39117	0.539178967476	0.44329	T	0.075811	0.35267	T	-0.421426	0.01675	T	-0.349558	0.39255	T	0.028397520659595	0.01745	T	0.805019	0.45286	T	0.20894349	0.43145	0.2529774	0.50937	0.20894349	0.43145	0.2529774	0.50936	-4.525	0.31214	T	.	.	0.211	0.43949	B	.	.	3.154920	0.42722	21.6	0.99284567613437347	0.58043	0.93323	0.57910	D	AEFDGBCI	0.811549	0.73450	D	-0.283147476488811	0.29799	1.655778	-0.250873902885711	0.29741	1.668761	0.999999972392244	0.74766	0.623552	0.39893	0	0.59043	0.45803	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	4.01	4.01	0.45821	6.485000	0.73532	11.428000	0.92732	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.037000	0.13953	0.0:0.0:1.0:0.0	16.474	0.83969	856	0.34373	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	0.024267	0.020408	0.029973	0.026316	0.000000	0.000000	0.015432	0.022727	0.1	1326.12	33	chr20	62754880	.	G	A	1326.12	.	AC=2;AF=0.1;AN=20;DP=354;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.99;SOR=3.086	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1349,111,0	9	1	0	0
chr20	62760170	62760170	G	A	exonic	NTSR1	.	nonsynonymous SNV	NTSR1:NM_002531:exon4:c.G1160A:p.R387Q	.	432	1074	15	1	0	17	0.00785219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0155135449216	0.0002	0.000399361	0.0006	9.636e-05	0.0006	0	0	0.0002	0	0.0030	0.0005045	78	154602	rs144593693	0.0004	0.0004	0.0002	0.0005	0.0047	0.0003	0.0003	0.0033	0.0028	0	0.0004	0	5.038e-05	0	0.0047	0.0002	0.0007	0.0030	0.0002	0.0002	0.0002	0.0002	0.0033	0.0002	0.0001	0.0021	0.0017	2.406e-05	0	0	0	0	0	0.0102	0.0002	0	0.0033	0.086	0.32610	T	0.301	0.20293	T	0.527	0.37646	P	0.063	0.27082	B	0.598508	0.10981	N	0.776441	1	0.08975	N	1.265	0.31966	L	1.18	0.37746	T	-0.66	0.19085	N	0.094	0.07398	-1.0645	0.10666	T	0.040	0.17106	T	10	0.0047889054	0.00101	T	0.015514	0.36282	T	0.086	0.25016	.	.	0.229924730088	0.22615	0.4923813266645538	0.49159	0.351578093821	0.36998	0.211339205503	0.00869	T	0.128948	0.45692	T	-0.549169	0.00295	T	-0.565298	0.15882	T	0.0281949752260124	0.01716	T	0.665633	0.27494	T	0.028310211	0.02149	0.040342845	0.04339	0.028310211	0.02149	0.040342845	0.04339	-4.875	0.35453	T	.	.	0.075	0.05447	B	.	.	1.261590	0.16596	12.64	0.94846945664918647	0.25643	0.77066	0.37852	D	AEFGBCI	0.184983	0.31231	N	-1.14609059208574	0.05844	0.2675029	-1.14255904353463	0.06902	0.3338478	0.00311064925991008	0.09929	0.516011	0.20929	0	0.59043	0.45803	0	0.578056	0.29568	0	0.586402	0.36253	0	.	.	4.43	0.137	0.14085	1.646000	0.36865	0.065000	0.14184	-1.715000	0.00737	0.989000	0.36753	0.000000	0.08366	0.001000	0.02609	0.1479:0.2589:0.5932:0.0	7.262	0.25384	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.008772	0.000000	0.000000	0.003049	0.003788	0.1	10802.1	38	chr20	62760170	.	G	A	10802.1	.	AC=2;AF=0.1;AN=20;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.04;SOR=1.142	GT:AD:DP:GQ:PL	1/1:0,372:372:99:10825,1115,0	9	1	0	0
chr20	63521521	63521521	G	A	exonic	PPDPF	.	nonsynonymous SNV	PPDPF:NM_001353423:exon3:c.G65A:p.G22D,PPDPF:NM_024299:exon3:c.G65A:p.G22D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.0628913118816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.47320	D	0.054	0.48594	T	1.0	0.90584	D	0.955	0.69585	D	0.000004	0.62929	D	0.105288	0.999903	0.50806	D	2.285	0.65182	M	.	.	.	-4.85	0.84387	D	0.6	0.65758	-0.1776	0.78241	T	0.398	0.75030	T	9	0.4407582	0.58085	T	0.062891	0.68796	D	0.294	0.61388	0.226	0.15109	0.154104182512	0.14974	0.28611654156554023	0.28524	0.549970519472	0.51874	0.776672899723	0.78427	T	0.250608	0.62073	T	0.100446	0.64340	D	-0.0934934	0.63897	T	0.991698861122131	0.82026	D	0.779122	0.41282	T	0.6738382	0.76639	0.6420527	0.79084	0.6738382	0.76640	0.6420527	0.79084	-5.207	0.39013	T	.	.	0.533	0.68830	A	.;.	.;.	3.490397	0.48788	22.7	0.99269076331855632	0.57491	0.98052	0.79193	D	AEFDGBHCI	0.943165	0.94866	D	0.668831547320878	0.77592	6.704466	0.609395759184805	0.75621	6.343103	0.999999999611555	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	4.83	3.87	0.43823	5.500000	0.66660	9.117000	0.78826	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.1453:0.8547:0.0	14.785	0.69420	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	573.43	33	chr20	63521521	.	G	A	573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.156;DP=392;ExcessHet=0;FS=3.305;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.19;ReadPosRankSum=0.686;SOR=0.743	GT:AD:DP:GQ:PL	0/1:41,29:70:99:585,0,990	9	0	1	0
chr20	63561446	63561446	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon8:c.G5150A:p.R1717Q,HELZ2:NM_001037335:exon14:c.G6857A:p.R2286Q	.	425	1087	10	0	0	10	0.00457875	.	.	.	3689219	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.333	0.0711896520816	7.7e-05	.	0.0003	9.899e-05	0.0004	0	0	6.14e-05	0.0012	0.0015	0.0002264	35	154602	rs377628074	0.0002	0.0002	8.186e-05	0.0002	0.0028	0.0001	0.0001	0.0018	0.0017	0	0.0001	0	0	0	0.0028	2.07e-05	0.0003	0.0020	5.253e-05	5.249e-05	3.855e-05	6.714e-05	0.0012	2.556e-05	1.829e-05	0.0005	0.0004	2.405e-05	0	0	0	0	0	0	1.471e-05	0	0.0012	0.082	0.33254	T	0.035	0.52389	D	0.999	0.90584	D	0.966	0.79672	D	0.766281	0.09582	N	0.857968	0.971044	0.38842	D	1.325	0.33218	L	-1.54	0.81640	D	-2.26	0.53258	N	0.464	0.54932	-0.2935	0.75167	T	0.536	0.82854	D	10	0.070828885	0.10358	T	0.07119	0.71204	D	0.333	0.65522	.	.	0.671013503938	0.66823	0.5252025767368174	0.52444	0.773432479962	0.64893	0.533091664314	0.43470	T	0.227268	0.59251	T	-0.291813	0.09455	T	-0.216573	0.53067	T	0.0717606276334605	0.08896	T	0.89721	0.64041	D	0.26178193	0.49237	0.13710324	0.32781	0.26178193	0.49237	0.13710324	0.32780	-4.659	0.32904	T	.	.	0.127	0.28750	B	.;.	.;.	4.682045	0.74937	26.2	0.99938172093669664	0.99698	0.96027	0.67203	D	AEFDGBI	0.270643	0.38666	N	0.334820769620035	0.57943	3.963954	0.305031323910823	0.55835	3.746296	0.917380342497508	0.26540	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.46	4.46	0.53567	1.166000	0.31444	3.915000	0.40434	0.549000	0.26987	0.656000	0.28225	0.999000	0.35428	0.952000	0.50033	0.3141:0.6859:0.0:0.0	11.503	0.49697	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1907.43	37	chr20	63561446	.	C	T	1907.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.076;DP=595;ExcessHet=0;FS=0.67;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-2.541;SOR=0.604	GT:AD:DP:GQ:PL	0/1:52,75:127:99:1919,0,1215	9	0	1	0
chr20	63568584	63568584	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_001037335:exon6:c.G1504A:p.A502T	.	396	1124	2	0	0	2	0.000888889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	0.0059	0.00399361	0.0025	0.0254	0.0012	0.0003	0	3.129e-05	0.0075	0.0005	0.0013519	209	154602	rs61741406	0.0005	0.0005	0.0006	0.0005	0.0187	0.0005	0.0005	0.0175	0.0170	0.0187	0.0005	0	2.559e-05	0	0.0009	1.899e-05	0.0010	0.0007	0.0051	0.0051	0.0055	0.0047	0.0183	0.0048	0.0047	0.0172	0.0168	0.0183	0	0.0008	0	0	0	0	1.47e-05	0.0024	0.0006	0.749	0.03598	T	0.988	0.02376	T	0.059	0.23051	B	0.003	0.08700	B	0.125754	0.02765	N	1.765690	1	0.08975	N	0.22	0.09567	N	-1.14	0.77843	T	0.0	0.07008	N	0.032	0.00825	-0.9210	0.45417	T	0.047	0.20275	T	10	0.0034807622	0.00062	T	.	.	.	0.109	0.30843	.	.	0.107399877778	0.10242	0.06021833754805024	0.05961	0.173054112851	0.19489	0.3523671031	0.18269	T	0.015992	0.13307	T	-0.596167	0.00154	T	-0.614193	0.11647	T	0.000890653836295284	0.00008	T	0.443356	0.12326	T	0.07172481	0.15901	0.044105235	0.05638	0.07172481	0.15901	0.044105235	0.05637	-4.13	0.25730	T	.	.	0.072	0.04277	B	.	.	0.690796	0.10597	7.299	0.67948864028608702	0.08508	0.08650	0.14549	N	AEFDGBCI	0.053227	0.09572	N	-1.57227122255346	0.01409	0.06143055	-1.55818833438924	0.01920	0.08759531	0.999999992493442	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.717052	0.78885	0	0.683762	0.67416	0	.	.	4.52	-4.86	0.02902	-0.927000	0.04092	-1.103000	0.06322	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1877:0.2152:0.096:0.5011	2.071	0.03395	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.005450	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1426.43	33	chr20	63568584	.	C	T	1426.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.07;DP=424;ExcessHet=0;FS=2.433;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.564;SOR=0.954	GT:AD:DP:GQ:PL	0/1:59,55:114:99:1438,0,1444	9	0	1	0
chr21	10598062	10598062	G	A	exonic	TPTE	.	nonsynonymous SNV	TPTE:NM_001290224:exon16:c.G910A:p.V304I,TPTE:NM_199260:exon19:c.G1210A:p.V404I,TPTE:NM_199259:exon20:c.G1270A:p.V424I,TPTE:NM_199261:exon21:c.G1324A:p.V442I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.000335182877044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.32355	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.20262	.	.	.	.	.	.	.	0.13273898	0.25264	T	.	.	.	.	.	.	.	.	.	0.6662978554120151	0.66567	.	.	.	.	.	0.160745	0.50472	T	.	.	.	.	.	.	.	.	.	0.743726	0.36333	T	.	.	.	.	.	.	.	.	-4.108	0.25511	T	.	.	0.081	0.08465	B	.;.;.;.	.;.;.;.	0.357605	0.07303	3.914	.	.	.	.	.	.	0.022413	0.01117	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.082000	0.11268	-0.533000	0.08625	0.318000	0.19305	0.005000	0.17040	0.000000	0.08366	0.035000	0.13729	.	.	.	.	.	.;Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Tensin phosphatase, 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	.	.	.	.	.	.	.	.	0.05	870.43	39	chr21	10598062	.	G	A	870.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.981;DP=613;ExcessHet=0;FS=2.736;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=-0.465;SOR=0.907	GT:AD:DP:GQ:PL	0/1:179,53:232:99:882,0,4406	9	0	1	0
chr21	25764321	25764321	A	G	exonic	GABPA	.	nonsynonymous SNV	GABPA:NM_001197297:exon8:c.A914G:p.E305G,GABPA:NM_002040:exon8:c.A914G:p.E305G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0180818427994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.27663	T	0.167	0.30729	T	0.19	0.29379	B	0.039	0.23607	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.55	0.14455	N	2.6	0.13204	T	-1.79	0.42191	N	0.603	0.62103	-1.0283	0.21005	T	0.025	0.10553	T	10	0.3582465	0.52521	T	0.018082	0.40021	T	0.172	0.43662	0.331	0.31681	0.742730295511	0.74041	0.4257130083918205	0.42488	1.47514625927	0.86607	0.768245518208	0.77162	T	0.180483	0.53183	T	0.0563434	0.59152	T	-0.156843	0.58634	T	0.916794955730438	0.57436	D	0.834817	0.50404	T	0.17643984	0.38556	0.15619034	0.36579	0.17643984	0.38556	0.15619034	0.36578	-3.793	0.20700	T	.	.	0.816	0.79359	P	.;.	.;.	3.850678	0.55778	23.7	0.99746106330811402	0.83852	0.99166	0.92202	D	AEFBI	0.698568	0.65620	D	-0.0487975545162843	0.39656	2.342139	0.124104303685892	0.45785	2.835536	0.999997454474262	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.67	4.67	0.58089	8.351000	0.89975	11.242000	0.90457	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.231	0.65437	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	.	.	.	.	.	.	.	.	0.05	291.43	36	chr21	25764321	.	A	G	291.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.573;DP=267;ExcessHet=0;FS=1.744;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.093;SOR=0.283	GT:AD:DP:GQ:PL	0/1:10,13:23:99:303,0,237	9	0	1	0
chr21	32270528	32270528	C	T	exonic	MIS18A	.	nonsynonymous SNV	MIS18A:NM_018944:exon3:c.G403A:p.V135I	.	.	.	.	.	.	.	.	0.0001	0.004	.	3285957	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.036	0.00371735885598	.	0.000199681	0.0001	0	0	0	0	0	0.0012	0.0010	0.0001035	16	154602	rs573480187	6.593e-05	6.772e-05	3.977e-05	9.259e-05	0.0010	5.477e-05	5.076e-05	0.0008	0.0008	3.338e-05	0	0	2.647e-05	0	0.0009	3.698e-06	6.983e-05	0.0010	7.227e-05	7.219e-05	2.571e-05	0.0001	0.0010	3.971e-05	3.127e-05	0.0004	0.0003	4.816e-05	0	0.0002	0	0	9.445e-05	0	0	0	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.132095	0.18599	N	0.559047	1	0.08975	N	-2.25	0.00109	N	.	.	.	0.01	0.06868	N	0.114	0.10198	-0.9974	0.30646	T	0.013	0.05033	T	9	0.012464076	0.00268	T	0.003717	0.08620	T	0.036	0.09122	0.115	0.02372	0.260249123532	0.25628	0.14620334094660384	0.14542	0.198902131425	0.22280	0.352131724358	0.18236	T	0.018652	0.14999	T	-0.651437	0.00071	T	-0.777343	0.02534	T	0.0170158532187352	0.00450	T	0.457454	0.13149	T	0.010790694	0.00010	0.022905108	0.00308	0.010790694	0.00010	0.022905108	0.00308	-3.158	0.11975	T	.	.	0.054	0.00321	B	.	.	-0.612840	0.01537	0.099	0.40692670841993728	0.02888	0.00805	0.03273	N	AEFBI	0.019719	0.00711	N	-2.01114989650396	0.00200	0.008577398	-1.93819948571869	0.00411	0.01815399	0.452193116273034	0.20550	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.78	-6.82	0.01537	-1.095000	0.03466	-3.966000	0.02422	-0.695000	0.04090	0.006000	0.17386	0.000000	0.08366	0.452000	0.27939	0.247:0.4822:0.0:0.2707	6.728	0.22557	902	0.24074	Yippee/Mis18/Cereblon|Mis18 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	.	.	.	.	.	.	.	.	0.1	1191.14	33	chr21	32270528	.	C	T	1191.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.07;DP=357;ExcessHet=0.2348;FS=1.928;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=0.252;SOR=0.97	GT:AD:DP:GQ:PL	0/1:16,20:36:99:544,0,361	8	0	2	0
chr21	32657057	32657057	G	A	exonic	SYNJ1	.	nonsynonymous SNV	SYNJ1:NM_001160306:exon19:c.C2510T:p.T837I,SYNJ1:NM_001160302:exon20:c.C2525T:p.T842I,SYNJ1:NM_003895:exon20:c.C2642T:p.T881I,SYNJ1:NM_203446:exon20:c.C2525T:p.T842I	Epileptic encephalopathy, early infantile, 53;Parkinson disease 20, early-onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	848697	not_provided|Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy,_53|Early-onset_Parkinson_disease_20	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530,Orphanet:391411	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.406	0.170161897134	.	0.000399361	7.457e-05	0	0	0	0	0	0	0.0005	7.12e-05	11	154602	rs370346211	6.499e-05	6.498e-05	3.811e-05	9.213e-05	0.0010	5.428e-05	5.041e-05	0.0009	0.0008	2.987e-05	0	0	0	0	0	8.993e-07	6.623e-05	0.0010	5.252e-05	5.25e-05	1.285e-05	9.397e-05	0.0017	2.555e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.01	0.65419	D	0.01	0.65728	D	0.467	0.43456	P	0.202	0.49371	B	0.000001	0.84330	D	0.092891	0.894488	0.36027	D	1.12	0.28775	L	-3.63	0.95111	D	-2.66	0.56945	D	0.313	0.55019	0.673	0.92839	D	0.751	0.91497	D	10	0.08629921	0.14656	T	0.170162	0.84779	D	0.406	0.71869	0.422	0.46529	0.846954497262	0.84548	0.6152318850786243	0.61455	0.415776360612	0.42219	0.580437779427	0.50148	T	0.350693	0.71840	T	-0.148802	0.28500	T	-0.0683042	0.65747	T	0.155103711639064	0.17502	T	0.953905	0.83719	D	.	.	.	.	.	.	.	.	-11.718	0.83451	D	.	.	0.374	0.62951	A	.;.;.;.;.	.;.;.;.;.	4.133230	0.61874	24.4	0.99822974172537482	0.90590	0.89407	0.49853	D	AEFGBI	0.372457	0.45809	N	0.220569650358205	0.52196	3.395398	0.327619498307801	0.57169	3.881734	0.902870059822372	0.26138	0.706548	0.73137	0	0.633656	0.55848	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.64	4.67	0.58089	1.578000	0.36135	8.334000	0.76984	0.618000	0.50648	0.987000	0.36337	1.000000	0.68203	0.990000	0.65344	0.0:0.1066:0.6496:0.2438	9.856	0.40253	751	0.51694	.;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	773.43	34	chr21	32657057	.	G	A	773.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.06;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=1.51;SOR=0.616	GT:AD:DP:GQ:PL	0/1:30,31:61:99:785,0,715	9	0	1	0
chr21	34449517	34449604	CGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG	-	exonic	KCNE1	.	frameshift deletion	KCNE1:NM_001127670:exon2:c.31_118del:p.P11Afs*24,KCNE1:NM_001270404:exon2:c.31_118del:p.P11Afs*24,KCNE1:NM_001127668:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001127669:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001270402:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001270403:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001270405:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_000219:exon4:c.31_118del:p.P11Afs*24	Jervell and Lange-Nielsen syndrome 2, Autosomal recessive;Long QT syndrome 5, Autosomal dominant	200	1278	43	1	0	45	0.017301	.	.	.	1192622	Long_QT_syndrome_5|not_provided	MONDO:MONDO:0013372,MedGen:C1867904,OMIM:613695,Orphanet:101016,Orphanet:768|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045	0.0059	0.0042	0.0048	0.0232	0.0044	0.0043	0.0215	0.0208	0.0079	0.0037	0.0084	0.0232	0.0086	0.0043	0.0035	0.0070	0.0035	0.0025	0.0089	0.0026	0.0023	0.0035	0.0022	0.0021	0.0028	0.0026	0.0035	0	0.0008	0.0023	0.0031	0.0013	0	0.0026	0.0009	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	32.33	34	chr21	34449516	.	CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG	C	32.33	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.376;DP=411;ExcessHet=0.7463;FS=9.758;InbreedingCoeff=-0.2229;MLEAC=3;MLEAF=0.15;MQ=37.95;MQRankSum=3.73;QD=0.21;ReadPosRankSum=-3.041;SOR=0.246	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,32:42:10:0|1:34449516_CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG_C:10,0,310:34449516	7	0	3	0
chr21	34449523	34449523	T	0	exonic	KCNE1	.	.	.	Jervell and Lange-Nielsen syndrome 2, Autosomal recessive;Long QT syndrome 5, Autosomal dominant	406	907	114	84	11	293	0.134542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	578.65	19	chr21	34449523	.	T	*	578.65	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.15;DP=287;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=6;MLEAF=0.3;MQ=38.22;MQRankSum=-1.178;QD=3.38;ReadPosRankSum=-1.652;SOR=2.266	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,22:27:12:1|0:34449516_CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG_C:595,165,110:34449516	4	0	6	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	3493.31	299	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	3493.31	.	AC=8;AF=0.444;AN=18;DP=3412;ExcessHet=1.5636;FS=2.538;InbreedingCoeff=-0.0667;MLEAC=9;MLEAF=0.5;MQ=59.94;QD=1.42;SOR=0.538	GT:AD:DP:GQ:PL	0/1:229,187:416:99:7034,0,8927	2	1	6	1
chr21	45999190	45999190	A	C	exonic	COL6A1	.	nonsynonymous SNV	COL6A1:NM_001848:exon26:c.A1712C:p.K571T	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	273707	not_specified|Bethlem_myopathy_1A|not_provided	MedGen:CN169374|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.878	0.470239152179	.	.	0.0002	0	0	0	0	0.0004	0	9.97e-05	9.06e-05	14	154602	rs751040647	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	2.995e-05	4.619e-05	3.861e-05	0	1.921e-05	0	0.0004	0.0002	1.188e-05	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.238e-05	0.0002	0.0002	2.411e-05	0	0	0	0	0	0	0.0003	0	0	0.051	0.39334	T	0.067	0.44302	T	1.0	0.90584	D	0.946	0.68276	D	0.000169	0.48594	D	0.134020	0.999999	0.58761	D	2.91	0.84121	M	-3.39	0.94210	D	-3.75	0.71157	D	0.76	0.86618	0.622	0.92187	D	0.829	0.94252	D	10	0.8363202	0.82788	D	0.470239	0.94667	D	0.878	0.96391	.	.	0.92042458895	0.91962	0.6979567475493687	0.69736	0.90736318531	0.70896	0.81877219677	0.84840	D	0.689071	0.90942	D	0.206829	0.74532	D	0.425762	0.92924	D	0.89400726556778	0.54532	D	0.90181	0.65830	D	0.2429011	0.47223	0.19661216	0.43399	0.22787972	0.45497	0.20426981	0.44541	-6.982	0.53902	T	0.7037737111120517	0.78308	0.839	0.79163	P	.;.	.;.	3.927283	0.57374	23.8	0.99732631479577305	0.82904	0.99164	0.92173	D	AEFDBI	0.911126	0.86997	D	0.45961291348972	0.64750	4.736756	0.424129925302867	0.63073	4.533902	0.999999999997227	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.5	4.5	0.54382	7.486000	0.80232	8.966000	0.78465	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.781000	0.36947	1.0:0.0:0.0:0.0	14.099	0.64569	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	.	.	.	.	.	.	.	.	0.05	658.43	39	chr21	45999190	.	A	C	658.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.207;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=0.461;SOR=0.719	GT:AD:DP:GQ:PL	0/1:36,32:68:99:670,0,822	9	0	1	0
chr21	46397402	46397402	G	A	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon22:c.G4000A:p.G1334R,PCNT:NM_006031:exon22:c.G4354A:p.G1452R	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	0	1508	13	1	0	15	0.00494886	.	.	.	169657	Microcephalic_osteodysplastic_primordial_dwarfism_type_II|not_provided|not_specified|Intellectual_disability	MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.227	.	0.0015	0.00359425	0.0032	0.0004	0.0005	0	0	0.0025	0	0.0126	0.0030401	470	154602	rs143796569	0.0033	0.0033	0.0031	0.0036	0.0127	0.0032	0.0032	0.0121	0.0118	0.0006	0.0006	3.826e-05	0	0.0005	0.0017	0.0031	0.0038	0.0127	0.0019	0.0019	0.0017	0.0021	0.0162	0.0017	0.0017	0.0133	0.0122	0.0006	0.0011	0.0007	0.0003	0	0.0002	0	0.0025	0.0019	0.0162	0.108	0.29420	T	0.084	0.41239	T	0.998	0.73220	D	0.807	0.58472	P	0.303674	0.14554	N	0.511594	0.999996	0.08975	N	1.845	0.48678	L	0.33	0.58323	T	-2.26	0.50502	N	0.262	0.29659	-0.7313	0.58898	T	0.275	0.64691	T	10	0.008995593	0.00203	T	.	.	.	0.227	0.52620	0.235	0.16457	0.71884942748	0.71637	0.04303776020404046	0.04248	0.484201137751	0.47341	0.288807570934	0.08749	T	0.045761	0.27221	T	-0.27923	0.10749	T	-0.16284	0.58094	T	0.0360778288447019	0.02995	T	0.767723	0.39623	T	0.091336384	0.21400	0.09635771	0.22893	0.091336384	0.21399	0.09635771	0.22892	-3.128	0.11621	T	.	.	0.200	0.42375	B	.	.	3.667143	0.52131	23.2	0.99645901095198219	0.76943	0.83027	0.42181	D	AEFDBHCIJ	0.350761	0.44410	N	0.268513640601526	0.54561	3.621278	0.185254883641047	0.49038	3.111961	0.999999999999948	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723109	0.80598	0	0.733575	0.97253	0	.	.	5.46	5.46	0.80021	4.162000	0.57962	6.481000	0.55737	-0.154000	0.11915	0.960000	0.33603	0.998000	0.33993	0.004000	0.06068	0.0:0.0:1.0:0.0	16.801	0.85476	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.05	2140.43	41	chr21	46397402	.	G	A	2140.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.51;DP=532;ExcessHet=0;FS=1.057;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.029;SOR=0.727	GT:AD:DP:GQ:PL	0/1:120,95:215:99:2152,0,2683	9	0	1	0
chr22	18608149	18608149	G	A	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.C3286T:p.R1096C	.	.	.	.	.	.	.	.	.	.	.	2350021	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00276962705946	.	0.000199681	0.0006	0.0004	0.0005	0.0006	0	0.0010	0	0	3.84e-05	1	26028	rs556282269	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	2.997e-05	0.0002	0	0.0001	0.0002	0	0.0003	0.0002	5.87e-05	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0002	0	6.574e-05	0	0	0	0.0034	0.0004	0	0	.	.	.	0.208	0.26883	T	.	.	.	.	.	.	0.310805	0.14437	N	0.676525	0.869823	0.35541	D	-0.22	0.03977	N	.	.	.	.	.	.	0.182	0.19728	-1.0350	0.18857	T	0.026	0.11309	T	10	0.024347723	0.00667	T	0.00277	0.05752	T	.	.	.	.	0.162503812791	0.15892	0.4640396563928599	0.46322	.	.	0.543227553368	0.44901	T	0.00176	0.01186	T	-0.36059	0.04096	T	-0.433773	0.29507	T	0.0393806223401046	0.03579	T	0.537046	0.18049	T	0.08319255	0.19201	0.04585534	0.06264	0.08319255	0.19201	0.04585534	0.06263	-3.707	0.19422	T	.	.	0.106	0.19639	B	.	.	2.603862	0.33808	19.45	0.9983230336340293	0.91370	0.59323	0.30883	D	AEFDBI	0.331781	0.43139	N	-0.568051534427148	0.19921	1.046359	-0.489555897896383	0.22440	1.218865	0.00467561365466144	0.10667	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.42	2.39	0.28492	3.069000	0.49724	0.805000	0.21696	0.306000	0.19039	0.993000	0.37899	0.001000	0.17328	0.591000	0.31164	0.1254:0.0:0.8746:0.0	8.488	0.32242	866	0.32446	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	.	.	.	.	.	.	.	.	0.05	5027.43	33	chr22	18608149	.	G	A	5027.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.398;DP=1069;ExcessHet=0;FS=5.964;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=43.18;MQRankSum=2.5;QD=15.33;ReadPosRankSum=-0.426;SOR=0.454	GT:AD:DP:GQ:PL	0/1:127,201:328:99:5039,0,2720	9	0	1	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	0.6	25769.9	170	chr22	18925165	.	A	G	25769.9	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.855;DP=1326;ExcessHet=0.0072;FS=0.629;InbreedingCoeff=0.5833;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=21.55;ReadPosRankSum=0.848;SOR=0.79	GT:AD:DP:GQ:PL	1/1:0,146:146:99:4207,438,0	3	5	2	0
chr22	19275743	19275743	C	A	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon2:c.G130T:p.V44F,CLTCL1:NM_007098:exon2:c.G130T:p.V44F	.	419	1007	92	4	0	100	0.0473037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	.	0.0060	0.00898562	0.0146	0.0007	0.0087	0	0.0031	0.0116	0.0220	0.0497	0.0099675	1541	154602	rs34869740	0.0080	0.0080	0.0068	0.0092	0.0392	0.0078	0.0078	0.0381	0.0376	0.0008	0.0048	0.0224	2.524e-05	0.0020	0.0312	0.0060	0.0091	0.0392	0.0063	0.0063	0.0061	0.0065	0.0357	0.0059	0.0058	0.0313	0.0296	0.0012	0.0110	0.0042	0.0274	0.0004	0.0015	0.0238	0.0076	0.0133	0.0357	0.035	0.52492	D	0.043	0.64786	D	0.177	0.55854	B	0.325	0.65913	B	0.000108	0.50451	D	0.078972	0.998752	0.45389	D	3.3	0.90472	M	0.98	0.42122	T	-2.53	0.66085	D	0.348	0.38950	-0.7526	0.57799	T	0.181	0.52798	T	10	0.0042898357	0.00086	T	.	.	.	0.186	0.46104	.	.	.	.	0.5550606857815419	0.55433	.	.	0.284310281277	0.08101	T	0.300661	0.67314	T	-0.40804	0.02048	T	-0.330329	0.41431	T	0.106590663868295	0.13067	T	0.980535	0.93576	D	0.22724117	0.45421	0.15075435	0.35541	0.14929381	0.34042	0.15075435	0.35541	-9.455	0.70579	D	0.6859370309383997	0.76300	0.171	0.53603	B	.;.;.	.;.;.	1.874624	0.23810	16.16	0.9936751865389698	0.61283	0.88714	0.48774	D	AEFDBI	0.424985	0.48993	N	-0.167350738109467	0.34498	1.969896	-0.316537505401412	0.27563	1.530398	0.999998934083076	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	4.07	1.93	0.24985	3.457000	0.52771	0.694000	0.20791	-0.804000	0.03133	1.000000	0.71638	0.809000	0.27020	0.133000	0.19684	0.1561:0.7604:0.0:0.0836	8.231	0.30759	749	0.51929	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027750	0.005102	0.013587	0.038462	0.000000	0.008621	0.051829	0.049242	0.15	3604.45	38	chr22	19275743	.	C	A	3604.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.275;DP=569;ExcessHet=0.7463;FS=3.685;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=1.04;SOR=0.675	GT:AD:DP:GQ:PL	0/1:64,52:116:99:1177,0,1476	7	0	3	0
chr22	20086609	20086609	G	A	exonic	DGCR8	.	nonsynonymous SNV	DGCR8:NM_001190326:exon2:c.G646A:p.A216T,DGCR8:NM_022720:exon2:c.G646A:p.A216T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00193208963559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.09401	T	0.575	0.08654	T	0.0	0.02946	B	0.0	0.04355	B	0.133168	0.18560	N	0.585440	0.961	0.26140	N	-0.345	0.03330	N	1.54	0.30133	T	-0.27	0.11366	N	0.035	0.05037	-0.9799	0.35025	T	0.028	0.11971	T	10	0.027662486	0.00909	T	0.001932	0.03430	T	0.083	0.24192	0.19	0.10039	0.128874641272	0.12493	0.0497393239573337	0.04916	0.461642990956	0.45703	0.323139131069	0.13896	T	0.039902	0.25348	T	-0.384546	0.02916	T	-0.79015	0.02161	T	0.0463597104420978	0.04850	T	0.689231	0.29860	T	0.019033695	0.00428	0.036093496	0.02989	0.019033695	0.00428	0.036093496	0.02988	-4.433	0.30001	T	.	.	0.066	0.02829	B	.;.;.	.;.;.	0.946070	0.13218	9.720	0.91884284865738175	0.21202	0.53784	0.29456	D	AEFGBHCI	.	.	.	-0.843617222102925	0.12207	0.5936505	-0.700013108260653	0.16960	0.8996539	0.999902649838013	0.45458	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.56	0.209	0.14503	-0.220000	0.09220	0.559000	0.19493	0.618000	0.50648	0.490000	0.26879	0.985000	0.30750	0.998000	0.85391	0.3757:0.0:0.6243:0.0	7.795	0.28304	534	0.73357	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	80.04	42	chr22	20086609	.	G	A	80.04	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.501;DP=1008;ExcessHet=0;FS=128.648;InbreedingCoeff=-0.1694;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=-1.55;SOR=7.523	GT:AD:DP:GQ:PL	0/1:93,42:135:89:89,0,1561	6	0	1	3
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	745.45	15	chr22	21216084	.	C	T	745.45	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.13;DP=155;ExcessHet=10.3881;FS=2.76;InbreedingCoeff=-0.7054;MLEAC=8;MLEAF=0.4;MQ=44.76;MQRankSum=-1.805;QD=6.26;ReadPosRankSum=1.17;SOR=0.539	GT:AD:DP:GQ:PL	0/1:10,2:12:50:50,0,262	2	0	8	0
chr22	21636684	21636684	C	T	exonic	CCDC116	.	nonsynonymous SNV	CCDC116:NM_152612:exon5:c.C1456T:p.R486C	.	423	1098	0	1	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0119427295809	7.7e-05	.	3.304e-05	0	0	0.0002	0	3.008e-05	0	0	2.59e-05	4	154602	rs375044936	1.368e-05	1.368e-05	1.634e-05	1.1e-05	0.0003	8.94e-06	7.26e-06	6.094e-05	2.522e-05	2.987e-05	6.708e-05	0	0.0001	0	0.0003	8.993e-06	0	0	1.972e-05	1.97e-05	0	4.037e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	0.01	0.56456	D	0.008	0.67890	D	.	.	.	.	.	.	0.010815	0.01287	N	2.692820	1	0.08975	N	0.345	0.11182	N	2.62	0.12988	T	-2.71	0.57762	D	0.186	0.20262	-1.0410	0.17011	T	0.024	0.10239	T	10	0.09136385	0.15999	T	0.011943	0.30057	T	0.062	0.17934	.	.	0.287603790349	0.28378	0.053356699290155504	0.05277	0.728362422751	0.62609	0.215942502022	0.01088	T	0.022762	0.17490	T	-0.460155	0.00981	T	-0.673056	0.07414	T	0.294436872005463	0.24774	T	0.60344	0.22635	T	0.11040578	0.26097	0.076185286	0.16849	0.11040578	0.26097	0.076185286	0.16849	-4.894	0.35667	T	.	.	0.111	0.21578	B	.	.	1.255395	0.16525	12.60	0.98051661175658233	0.37874	0.03642	0.08892	N	AEFDBHCI	0.064464	0.12517	N	-0.652359776245304	0.17393	0.8945453	-0.83606114088844	0.13623	0.7077136	0.999999705646514	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.55	-2.06	0.06894	-0.289000	0.08401	.	.	-0.314000	0.05961	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3996:0.2451:0.2607:0.0946	2.318	0.03946	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	.	.	.	.	.	.	.	.	0.05	1323.43	34	chr22	21636684	.	C	T	1323.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.393;DP=394;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.13;ReadPosRankSum=-0.591;SOR=0.839	GT:AD:DP:GQ:PL	0/1:21,52:73:99:1335,0,384	9	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3559.91	73	chr22	23311788	.	T	TCCGG	3559.91	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.584;DP=874;ExcessHet=7.0302;FS=18.299;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=55.4;MQRankSum=-7.428;QD=5.06;ReadPosRankSum=0.133;SOR=1.82	GT:AD:DP:GQ:PL	0/1:88,12:100:99:238,0,3639	3	0	7	0
chr22	26027319	26027319	C	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon43:c.C7348T:p.R2450W,MYO18B:NM_032608:exon43:c.C7345T:p.R2449W	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	426	1089	7	0	0	7	0.00320366	.	.	.	578584	not_provided|Klippel-Feil_anomaly-myopathy-facial_dysmorphism_syndrome	MedGen:C3661900|MONDO:MONDO:0014689,MedGen:C4225285,OMIM:616549,Orphanet:447974	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.632	0.293313125239	0.0042	0.00219649	0.0049	0.0014	0.0041	0.0001	0.0029	0.0067	0.0022	0.0033	0.0048835	755	154602	rs149103381	0.0057	0.0057	0.0057	0.0057	0.0065	0.0056	0.0056	0.0064	0.0064	0.0006	0.0044	0.0022	7.557e-05	0.0034	0.0029	0.0065	0.0052	0.0035	0.0045	0.0044	0.0049	0.0040	0.0069	0.0042	0.0041	0.0064	0.0062	0.0015	0	0.0047	0.0020	0.0002	0.0034	0	0.0069	0.0066	0.0033	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.985	0.76457	D	0.000114	0.50451	D	0.000000	0.877567	0.35685	D	1.935	0.51832	L	-3.13	0.92938	D	-4.62	0.79143	D	0.704	0.70790	0.799	0.94404	D	0.805	0.93400	D	10	0.023308277	0.00606	T	0.293313	0.90637	D	0.632	0.85872	.	.	0.93149503283	0.93079	0.5363631325941575	0.53561	0.403975214382	0.41314	0.521508395672	0.41839	T	0.480227	0.80931	T	-0.0663114	0.41914	T	0.135977	0.79282	D	0.0359432094479308	0.02971	T	0.889211	0.62120	D	0.4668643	0.65098	0.41178858	0.65400	0.46537626	0.65006	0.44655162	0.67766	-6.469	0.50046	T	.	.	0.207	0.46960	B	.;.;.	.;.;.	4.662254	0.74425	26.2	0.9991325294484098	0.98238	0.86569	0.45877	D	AEFDBI	0.621542	0.60619	D	0.343025289852147	0.58371	4.009039	0.245234731715821	0.52377	3.413073	0.799939675151461	0.24168	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.17	2.9	0.32809	0.880000	0.27798	2.803000	0.34863	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.716000	0.34643	0.4518:0.5482:0.0:0.0	11.895	0.51932	905	0.23532	.;.;.	.	.	.	.	.	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	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.1	13591.1	391	chr22	26027319	.	C	T	13591.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.33;DP=2835;ExcessHet=0.2348;FS=0.52;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.269;SOR=0.773	GT:AD:DP:GQ:PL	0/1:322,284:606:99:6579,0,7326	8	0	2	0
chr22	31140088	31140088	A	T	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon1:c.T267A:p.H89Q	.	247	1243	27	5	0	37	0.0146651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0042	0.00519169	0.0065	0.0013	0.0020	0.0027	0.0008	0.0066	0.0066	0.0170	0.0060866	941	154602	rs55984643	0.0067	0.0067	0.0064	0.0070	0.0160	0.0066	0.0065	0.0153	0.0150	0.0010	0.0025	0.0049	0.0024	0.0016	0.0136	0.0067	0.0073	0.0160	0.0040	0.0040	0.0042	0.0038	0.0137	0.0037	0.0036	0.0110	0.0101	0.0008	0	0.0021	0.0052	0.0025	0.0012	0.0034	0.0062	0.0038	0.0137	0.473	0.08408	T	0.528	0.10173	T	0.011	0.15914	B	0.003	0.08700	B	0.542083	0.11525	N	0.811223	0.999997	0.08975	N	1.15	0.29295	L	2.91	0.10008	T	-1.48	0.36189	N	0.1	0.08227	-0.9510	0.40799	T	0.010	0.03856	T	10	0.003170222	0.00053	T	.	.	.	0.024	0.04979	0.256	0.19689	0.0846915920261	0.08053	0.20376811032185027	0.20293	0.0691369018457	0.07735	0.280050009489	0.07499	T	0.024555	0.18532	T	-0.679377	0.00048	T	-0.735029	0.04102	T	0.000639412999052918	0.00006	T	0.285571	0.05082	T	0.048105877	0.08330	0.08347583	0.19133	0.048105877	0.08330	0.08347583	0.19133	-2.368	0.04940	T	.	.	0.083	0.09336	B	.	.	-0.908583	0.00912	0.034	0.48977307495182992	0.04132	0.06914	0.12939	N	AEFDBCI	0.054706	0.09970	N	-1.39168245620973	0.02715	0.1202966	-1.44971714329186	0.02772	0.1281381	0.999999117941641	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	5.69	-5.44	0.02419	-0.398000	0.07320	-1.564000	0.05161	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2343:0.4697:0.2961:0.0	7.825	0.28469	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.000000	0.001359	0.026316	0.000000	0.017241	0.006098	0.015152	0.15	2119.45	34	chr22	31140088	.	A	T	2119.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.78;DP=516;ExcessHet=0.7463;FS=1.108;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.032;SOR=0.596	GT:AD:DP:GQ:PL	0/1:53,25:78:99:637,0,1384	7	0	3	0
chr22	35727155	35727155	G	C	exonic	APOL5	.	nonsynonymous SNV	APOL5:NM_030642:exon3:c.G1087C:p.G363R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00462983158996	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.991	0.64070	D	0.831	0.59664	P	0.002968	0.00929	N	13.518900	1	0.08975	N	0	0.06538	N	3.49	0.05071	T	-1.46	0.35792	N	0.151	0.15469	-1.0453	0.15738	T	0.019	0.07800	T	10	0.15380505	0.29024	T	0.00463	0.11472	T	0.097	0.27909	0.332	0.31843	0.252162846088	0.24830	0.09838960696724006	0.09769	0.786334357911	0.65532	0.331536322832	0.15166	T	0.003006	0.02402	T	-0.323414	0.06623	T	-0.702338	0.05699	T	0.428490310907364	0.30005	T	0.450755	0.12737	T	0.12324908	0.28944	0.09204823	0.21672	0.12324908	0.28944	0.09204823	0.21672	-3.533	0.16897	T	.	.	0.157	0.34754	B	.	.	1.524235	0.19565	14.33	0.96474023681937215	0.29946	0.02432	0.06860	N	AEFBI	0.031704	0.03443	N	-0.822808184625	0.12728	0.6223153	-1.03817747273771	0.08955	0.442918	0.999756728135617	0.42595	0.500041	0.20204	0	0.59043	0.45803	0	0.624306	0.44879	0	0.613276	0.41899	0	.	.	3.06	-2.08	0.06852	-0.252000	0.08825	-0.258000	0.10450	-0.354000	0.05547	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.4553:0.2135:0.3311:0.0	3.389	0.06858	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1716.43	36	chr22	35727155	.	G	C	1716.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.626;DP=568;ExcessHet=0;FS=2.338;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-1.102;SOR=0.765	GT:AD:DP:GQ:PL	0/1:48,75:123:99:1728,0,1055	9	0	1	0
chr22	36265601	36265601	G	C	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G711C:p.R237S,APOL1:NM_001362927:exon5:c.G711C:p.R237S,APOL1:NM_001136540:exon6:c.G765C:p.R255S,APOL1:NM_003661:exon6:c.G765C:p.R255S,APOL1:NM_145343:exon7:c.G813C:p.R271S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000907701874081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.085e-06	0.0006	2.76e-06	1.4e-06	2.728e-06	5.6e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.728e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.30375	T	0.283	0.46632	T	0.002	0.09854	B	0.001	0.04355	B	0.000540	0.00634	N	5.050130	1	0.08975	N	0	0.06538	N	3.93	0.03435	T	-0.32	0.12283	N	0.052	0.05287	-0.9365	0.43164	T	0.006	0.02131	T	10	0.08132845	0.13302	T	9.08E-4	0.00866	T	0.011	0.01250	0.408	0.44230	0.185906805712	0.18197	0.18011142860078055	0.17930	0.0660165172608	0.07365	0.244562089443	0.03216	T	0.00853	0.07826	T	-0.342634	0.05208	T	-0.729947	0.04330	T	0.0890489221116852	0.11104	T	0.716728	0.32905	T	0.07998894	0.18304	0.038347237	0.03684	0.07998894	0.18304	0.038347237	0.03684	-1.822	0.02808	T	.	.	0.273	0.50708	B	.;.;.;.;.	.;.;.;.;.	-2.042542	0.00092	0.002	0.34530247570989991	0.02117	0.00520	0.02423	N	AEFDBI	0.218833	0.34379	N	-1.93437648620656	0.00291	0.01250946	-2.04200221281962	0.00249	0.0109851	0.999770420652857	0.42865	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.12	-6.25	0.01863	-2.263000	0.01256	-8.769000	0.00916	-1.311000	0.01235	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2299:0.2804:0.3507:0.139	1.741	0.02774	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	.	.	.	.	.	.	.	.	0.1	202.93	164	chr22	36265601	.	G	C	202.93	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.251;DP=1274;ExcessHet=0.2348;FS=165.798;InbreedingCoeff=-0.1355;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.67;SOR=9.308	GT:AD:DP:GQ:PL	0/1:120,24:151:99:107,0,4411	8	0	2	0
chr22	36265604	36265604	G	C	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G714C:p.E238D,APOL1:NM_001362927:exon5:c.G714C:p.E238D,APOL1:NM_001136540:exon6:c.G768C:p.E256D,APOL1:NM_003661:exon6:c.G768C:p.E256D,APOL1:NM_145343:exon7:c.G816C:p.E272D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00111242078578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.196	0.28860	T	0.992	0.64738	D	0.989	0.78396	D	0.770951	0.06597	N	1.103480	1	0.08975	N	1.665	0.42610	L	3.83	0.03702	T	-1.87	0.43717	N	0.092	0.11483	-1.0243	0.22311	T	0.022	0.09421	T	10	0.27728033	0.45294	T	0.001112	0.01336	T	0.082	0.23913	0.507	0.60232	0.53906709209	0.53559	0.16556427240615473	0.16476	0.360721973955	0.37738	0.259047538042	0.04778	T	0.012596	0.11043	T	-0.333464	0.05853	T	-0.716774	0.04953	T	0.245490476489067	0.22670	T	0.777122	0.41012	T	0.06793174	0.14756	0.04626168	0.06409	0.06793174	0.14756	0.04626168	0.06409	-3.75	0.20954	T	.	.	0.137	0.29779	B	.;.;.;.;.	.;.;.;.;.	0.291250	0.06675	3.178	0.98905130924322504	0.48254	0.01941	0.05908	N	AEFDBI	0.220069	0.34487	N	-0.670268106369882	0.16873	0.8634436	-1.02054216251253	0.09334	0.4637797	0.994276953357058	0.33564	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.12	-6.25	0.01863	-0.470000	0.06717	-7.429000	0.01158	-1.187000	0.01379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.341:0.3049:0.2002:0.1539	0.870	0.01134	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	.	.	.	.	.	.	.	.	0.1111	201.06	161	chr22	36265604	.	G	C	201.06	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.908;DP=1212;ExcessHet=0.2348;FS=243.904;InbreedingCoeff=-0.1651;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=2.75;SOR=8.349	GT:AD:DP:GQ:PL	0/1:121,26:155:99:146,0,3475	7	0	2	1
chr22	37824853	37824853	G	C	exonic	GALR3	.	nonsynonymous SNV	GALR3:NM_003614:exon2:c.G490C:p.V164L	.	433	1079	9	1	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.844423935742	0.0003	0.000998403	0.0033	0	0.0033	0	0	0.0038	0.0042	0.0040	0.0009832	152	154602	rs201220537	0.0008	0.0008	0.0007	0.0008	0.0100	0.0007	0.0007	0.0075	0.0067	0.0004	0.0017	0.0088	0	0	0.0100	0.0005	0.0019	0.0012	0.0009	0.0009	0.0009	0.0009	0.0018	0.0008	0.0008	0.0013	0.0011	0.0005	0	0.0018	0.0079	0	0	0.0241	0.0007	0.0038	0.0012	0.451	0.08969	T	0.517	0.10572	T	0.067	0.23653	B	0.013	0.16460	B	0.001388	0.39175	N	0.216529	0.567405	0.32265	D	1.005	0.25186	L	-0.59	0.71543	T	-0.81	0.22294	N	0.253	0.28616	-0.7832	0.56121	T	0.164	0.50144	T	10	0.010802358	0.00239	T	0.844424	0.98798	D	0.146	0.38789	0.501	0.59304	0.751730520737	0.74948	0.19785064172882888	0.19702	1.03962625952	0.75747	0.965840280056	0.99958	D	0.034564	0.23370	T	-0.336506	0.05634	T	-0.275159	0.47298	T	0.0344886640305371	0.02721	T	0.465653	0.13651	T	0.45275438	0.64216	0.33595946	0.59404	0.45275438	0.64216	0.33595946	0.59403	-3.212	0.12628	T	.	.	0.160	0.35435	B	.	.	3.462266	0.48258	22.6	0.95845559521342216	0.27976	0.89866	0.50614	D	ALL	0.395779	0.47251	N	-0.18601357204842	0.33717	1.916028	0.00386481695361777	0.39894	2.372386	0.999999927828875	0.74766	0.443343	0.08805	1	0.578056	0.33634	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	4.81	4.81	0.61401	4.773000	0.62025	6.009000	0.52614	0.502000	0.22824	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.1625:0.0:0.8375:0.0	9.770	0.39750	905	0.23532	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	.	.	.	.	.	.	.	.	0.05	493.43	33	chr22	37824853	.	G	C	493.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.92;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=-0.943;SOR=0.622	GT:AD:DP:GQ:PL	0/1:37,23:60:99:505,0,803	9	0	1	0
chr22	39364270	39364270	A	G	exonic	SYNGR1	.	nonsynonymous SNV	SYNGR1:NM_145738:exon1:c.A76G:p.S26G	.	417	1091	13	1	0	15	0.00682749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0043	0.00798722	0.0042	0.0096	0.0092	0	0	0.0042	0.0099	0.0003	0.0041785	646	154602	rs77424082	0.0034	0.0034	0.0034	0.0033	0.0240	0.0033	0.0033	0.0207	0.0195	0.0093	0.0100	0.0266	0	7.491e-05	0.0240	0.0025	0.0083	0.0003	0.0061	0.0061	0.0065	0.0057	0.0142	0.0058	0.0057	0.0127	0.0121	0.0089	0	0.0142	0.0242	0	0.0005	0.0442	0.0030	0.0175	0.0002	0.079	0.33753	T	0.025	0.56192	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.46	0.35792	N	0.117	0.10626	-1.0215	0.23227	T	0.043	0.18576	T	7	0.0036369264	0.00066	T	.	.	.	0.027	0.05988	.	.	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.702086	0.00035	T	-0.773313	0.02661	T	0.00149790500072616	0.00015	T	0.245875	0.03603	T	.	.	.	.	.	.	.	.	-3.098	0.11273	T	.	.	0.079	0.07460	B	.	.	0.973775	0.13511	10.03	0.74917177669923385	0.10876	0.00080	0.00545	N	AEFDGBHCI	0.011557	0.00105	N	-1.26110416149846	0.04155	0.1869824	-1.39628340502482	0.03291	0.1532431	0.999999853745799	0.74766	0.608966	0.35542	0	0.573888	0.26702	0	0.769059	0.98459	0	0.613276	0.41899	0	.	.	2.03	-2.36	0.06282	0.258000	0.18156	-0.569000	0.08436	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.182:0.0:0.378:0.44	2.541	0.04438	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.037764	0.146465	0.046196	0.011696	0.000000	0.017241	0.006098	0.000000	0.05	887.43	34	chr22	39364270	.	A	G	887.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.058;DP=439;ExcessHet=0;FS=1.534;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=1.17;SOR=0.522	GT:AD:DP:GQ:PL	0/1:76,44:120:99:899,0,1802	9	0	1	0
chr22	42143481	42143481	C	T	exonic	CYP2D7	.	unknown	UNKNOWN	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	.	0.0011	0	0	0.0053	0.004	0.0011	0	0.0009	3.84e-05	1	26028	rs4987139	0.0004	0.0005	0.0004	0.0004	0.0025	0.0004	0.0004	0.0015	0.0012	0.0005	0.0005	3.931e-05	0.0016	0.0004	0.0025	0.0004	0.0005	0.0008	0.0005	0.0005	0.0004	0.0006	0.0023	0.0004	0.0004	0.0013	0.0010	0.0004	0	0.0003	0	0.0023	0.0004	0.0103	0.0004	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.800530	0.06766	N	1.107710	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.04072	-0.9561	0.39898	T	0.048	0.20632	T	8	0.0048719347	0.00104	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.00855	0.07843	T	-0.815897	0.00006	T	-0.949371	0.00264	T	0.0229050145701607	0.01012	T	0.394361	0.09853	T	0.03325054	0.03505	0.04795191	0.07020	0.03325054	0.03505	0.04795191	0.07019	-3.791	0.20670	T	.	.	0.080	0.08997	B	.;.	.;.	0.047556	0.04620	1.285	0.78165188309843625	0.12183	0.00151	0.00912	N	AEFGI	0.005706	0.00010	N	-2.19974811969637	0.00077	0.003290962	-2.31385125181725	0.00062	0.002710541	0.974647965769969	0.29560	0.092769	0.02424	0	0.130567	0.03505	0	0.072005	0.02045	0	0.079188	0.02158	0	.	.	3.55	-7.1	0.01394	-1.205000	0.03124	-15.477000	0.00355	-1.872000	0.00551	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3557:0.0:0.6443	12.327	0.54340	106	0.95650	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2059.43	35	chr22	42143481	.	C	T	2059.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.071;DP=438;ExcessHet=0;FS=5.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59;MQRankSum=-1.326;QD=17.75;ReadPosRankSum=1.34;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,55:116:99:0|1:42143481_C_T:2071,0,2286:42143481	9	0	1	0
chr22	46313941	46313941	G	T	exonic	GTSE1	.	nonsynonymous SNV	GTSE1:NM_016426:exon6:c.G979T:p.A327S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00350357144774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	4.084e-06	1.375e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.03598	T	0.638	0.07015	T	.	.	.	.	.	.	0.153039	0.02978	N	1.814990	1	0.08975	N	.	.	.	3.17	0.07599	T	0.08	0.06026	N	0.058	0.02964	-0.9923	0.32012	T	0.011	0.04321	T	10	0.037608862	0.02125	T	0.003504	0.07939	T	0.026	0.05648	.	.	0.0401082797425	0.02173	0.09508078543260313	0.09440	0.152755714231	0.17239	0.277024567127	0.07082	T	.	.	.	-0.383771	0.02948	T	-0.789037	0.02191	T	0.0932864095329328	0.11602	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11269	B	.	.	0.049954	0.04636	1.297	0.34764142606908965	0.02145	0.02217	0.06454	N	AEFDGBI	0.038615	0.05492	N	-1.43971385594193	0.02299	0.1013543	-1.55448147742208	0.01945	0.0887944	0.999834910211568	0.43792	0.706548	0.73137	0	0.702456	0.74545	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	4.42	-5.66	0.02255	0.062000	0.14264	-1.634000	0.05018	-0.642000	0.04431	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.3697:0.2414:0.2561:0.1327	1.151	0.01676	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	.	.	.	.	.	.	.	.	0.05	1227.43	35	chr22	46313941	.	G	T	1227.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.453;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-1.022;SOR=0.633	GT:AD:DP:GQ:PL	0/1:62,56:118:99:1239,0,1352	9	0	1	0
chr22	46397724	46397724	T	C	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon12:c.A5651G:p.N1884S,CELSR1:NM_014246:exon12:c.A5651G:p.N1884S	.	417	1053	52	0	0	52	0.0240964	.	.	.	2736118	not_provided|CELSR1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	.	0.0035	0.00439297	0.0102	0.0019	0.0097	0.0003	0.0262	0.0119	0.0145	0.0112	0.0043208	668	154602	rs144122307	0.0055	0.0055	0.0054	0.0056	0.0336	0.0054	0.0054	0.0297	0.0282	0.0009	0.0044	0.0041	2.63e-05	0.0065	0.0336	0.0056	0.0063	0.0071	0.0043	0.0043	0.0041	0.0046	0.0060	0.0041	0.0040	0.0051	0.0049	0.0013	0	0.0050	0.0023	0.0002	0.0087	0.0068	0.0055	0.0095	0.0060	0.095	0.31235	T	0.099	0.38891	T	0.104	0.25941	B	0.024	0.20255	B	0.000929	0.41028	U	0.149021	0.970658	0.25693	N	1.8	0.47472	L	1.59	0.28836	T	-2.85	0.60029	D	0.468	0.50418	-1.0883	0.05821	T	0.051	0.21689	T	10	0.0123339	0.00265	T	.	.	.	0.099	0.28413	.	.	0.51743518642	0.51388	0.17866635132833883	0.17785	0.180036691928	0.20253	0.33372759819	0.15496	T	0.476755	0.80727	T	-0.553792	0.00277	T	-0.564115	0.15992	T	0.0322841818226493	0.02352	T	0.834417	0.50357	T	0.123880945	0.29080	0.12335056	0.29745	0.123880945	0.29079	0.12335056	0.29745	-5.796	0.44540	T	.	.	0.093	0.14062	B	.	.	2.594154	0.33663	19.40	0.90232056920767623	0.19504	0.97015	0.72198	D	AEFDBI	0.707286	0.66206	D	-0.195903848770706	0.33304	1.887959	-0.176973184716431	0.32385	1.84195	0.999991459268569	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.39	4.39	0.52211	5.776000	0.68576	7.625000	0.62478	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.0:0.0:1.0	13.567	0.61287	970	0.06235	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.022750	0.020408	0.020436	0.032164	0.100000	0.025862	0.018750	0.011364	0.1	1277.14	49	chr22	46397724	.	T	C	1277.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.031;DP=370;ExcessHet=0.2348;FS=8.594;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.773;SOR=0.227	GT:AD:DP:GQ:PL	0/1:27,21:48:99:492,0,760	8	0	2	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	12080.7	73	chr22	49922304	.	C	*	12080.7	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.08;DP=764;ExcessHet=0.0952;FS=0.682;InbreedingCoeff=0.3407;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=18.76;ReadPosRankSum=1.16;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,69:69:99:1|1:49922284_CG_C:2541,208,0:49922284	6	2	2	0
chr22	49922325	49922325	G	0	exonic	CRELD2	.	.	.	.	441	818	50	1	212	264	0.0308057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1333.4	73	chr22	49922325	.	G	*	1333.4	.	AC=4;AF=0.25;AN=16;BaseQRankSum=1.44;DP=700;ExcessHet=0;FS=4.378;InbreedingCoeff=0.5821;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=-0.434;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,69:69:99:1|1:49922284_CG_C:2541,208,0:49922284	6	2	0	2
chr22	50506312	50506312	G	A	exonic	LMF2	.	nonsynonymous SNV	LMF2:NM_001363816:exon4:c.C493T:p.R165C,LMF2:NM_033200:exon4:c.C568T:p.R190C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.0652309030402	8.5e-05	.	0.0001	0	0	0	0	0.0002	0	0.0001	1.29e-05	2	154602	rs369957226	4.008e-05	4.173e-05	4.378e-05	3.628e-05	5.605e-05	3.165e-05	2.845e-05	2.827e-05	2.545e-05	0	5.605e-05	0	0	0	0	3.801e-05	0.0002	3.787e-05	4.6e-05	4.597e-05	5.139e-05	4.036e-05	0.0001	2.11e-05	1.527e-05	4.766e-05	3.34e-05	0	0	0	0	0	0	0	0.0001	0	0	0.043	0.43393	D	0.057	0.46406	T	1.0	0.90584	D	0.98	0.74843	D	0.000007	0.62929	D	0.109424	1	0.81001	D	3.375	0.91388	M	1.86	0.24285	T	-3.94	0.73378	D	0.688	0.69474	-0.6724	0.61720	T	0.192	0.54463	T	10	0.63569343	0.68768	D	0.065231	0.69517	D	0.294	0.61388	.	.	0.245660935333	0.24156	0.6503332190980121	0.64969	.	.	0.788398265839	0.80199	T	0.186447	0.53974	T	-0.036106	0.46525	T	-0.0203404	0.69006	D	0.895915746688843	0.54755	D	0.976102	0.95021	D	0.30524707	0.53371	0.22214288	0.47049	0.30524707	0.53371	0.22214288	0.47048	-9.416	0.72359	D	.	.	0.180	0.39151	B	.;.	.;.	6.386372	0.95125	34	0.99938504011787122	0.99698	0.97543	0.75437	D	AEFDBI	0.927985	0.91149	D	0.792736289133258	0.85647	8.639497	0.726185792658214	0.84367	8.272223	0.999999997856543	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.69	4.69	0.58546	7.519000	0.80715	9.770000	0.81549	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:1.0:0.0	16.574	0.84483	721	0.55360	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2416.43	36	chr22	50506312	.	G	A	2416.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.486;DP=497;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-0.061;SOR=0.663	GT:AD:DP:GQ:PL	0/1:63,100:163:99:2428,0,1336	9	0	1	0
chrX	6533823	6533823	C	0	exonic	VCX3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2480.08	536	chrX	6533823	.	C	*	2480.08	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-0.647;DP=1689;ExcessHet=3.1439;FS=0;InbreedingCoeff=-0.2795;MLEAC=3;MLEAF=0.375;MQ=43.28;MQRankSum=2.7;QD=6.09;ReadPosRankSum=-1.527;SOR=0.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,5:44:82:.:.:82,0,1617:.	2	0	2	6
chrX	6533828	6533828	C	0	exonic	VCX3A	.	.	.	.	589	631	262	5	35	307	0.177314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2213.76	525	chrX	6533828	.	C	*	2213.76	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.77;DP=1645;ExcessHet=1.1394;FS=0.808;InbreedingCoeff=-0.1733;MLEAC=3;MLEAF=0.375;MQ=44.04;MQRankSum=2.51;QD=6.05;ReadPosRankSum=-2.447;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,5:44:82:.:.:82,0,1617:.	2	0	2	6
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	920.64	163	chrX	10469688	.	G	A	920.64	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.436;DP=881;ExcessHet=10.3881;FS=119.423;InbreedingCoeff=-0.6423;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=0.916;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,6:55:21:0|1:10469688_G_A:21,0,1780:10469688	2	0	8	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	.	.	.	.	.	.	.	.	0.4	1125.6	164	chrX	10469690	.	T	C	1125.6	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.496;DP=905;ExcessHet=10.3881;FS=128.174;InbreedingCoeff=-0.638;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=1.08;SOR=9.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,6:55:21:0|1:10469688_G_A:21,0,1780:10469688	2	0	8	0
chrX	22273563	22273563	C	T	exonic	CBLL2	.	nonsynonymous SNV	CBLL2:NM_152577:exon1:c.C572T:p.P191L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0901992998527	.	0.000264901	1.144e-05	0.0001	0	0	0	0	0	0	1.94e-05	3	154602	rs187258946	1.823e-06	1.821e-06	2.722e-06	0	7.584e-05	3e-07	1.1e-07	1.255e-05	4.69e-06	7.584e-05	0	0	0	0	0	0	0	0	8.957e-06	8.703e-06	0	2.958e-05	3.26e-05	0	0	.	.	3.26e-05	0	0	0	0	0	0	0	0	0	0.192	0.20988	T	0.283	0.21478	T	0.675	0.41275	P	0.091	0.29943	B	0.051492	0.22977	N	0.414041	0.999968	0.18878	N	.	.	.	1.39	0.33842	T	-3.36	0.66549	D	0.21	0.23380	-1.0591	0.11981	T	0.050	0.21222	T	10	0.09459221	0.16830	T	0.090199	0.75472	D	0.050	0.13987	.	.	0.0401082797425	0.02173	0.3513259426761962	0.35046	0.738883210993	0.63125	0.21640586853	0.01113	T	0.005009	0.04439	T	-0.371685	0.03509	T	-0.771676	0.02713	T	0.152590383755824	0.17308	T	0.442056	0.12263	T	0.04594244	0.07608	0.08490266	0.19565	0.04594244	0.07607	0.08490266	0.19565	-5.262	0.39566	T	.	.	0.120	0.24800	B	.	.	1.552788	0.19898	14.49	0.95675336032870584	0.27526	0.08971	0.14817	N	AEFGI	.	.	.	.	.	.	.	.	.	4.46483686073756E-4	0.07004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.25	-0.709	0.10671	1.232000	0.32238	-2.931000	0.03218	-0.176000	0.10722	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.5556:0.0:0.4444	7.670	0.27622	789	0.46346	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1691.12	147	chrX	22273563	.	C	T	1691.12	.	AC=2;AF=0.1;AN=20;DP=565;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.67;SOR=0.877	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1714,170,0	9	1	0	0
chrX	44232585	44232585	C	T	exonic	EFHC2	.	nonsynonymous SNV	EFHC2:NM_025184:exon10:c.G1516A:p.E506K	.	429	1051	29	13	0	55	0.0254984	.	.	.	1308138	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.038	0.226834300826	0.0032	0.00238411	0.0067	0.0008	0.0063	0	0.0033	0.0090	0	0.0091	0.0034605	535	154602	rs192827775	0.0045	0.0045	0.0045	0.0047	0.0283	0.0044	0.0044	0.0241	0.0225	0.0003	0.0020	0.0111	0	0.0026	0.0283	0.0045	0.0057	0.0072	0.0033	0.0034	0.0033	0.0033	0.0048	0.0030	0.0029	0.0043	0.0041	0.0005	0	0.0021	0.0109	0	0.0041	0.0320	0.0048	0.0039	0.0038	.	.	.	0.521	0.10429	T	0.913	0.50474	P	0.268	0.39801	B	0.000002	0.62929	D	0.059791	0.988983	0.40865	D	1.35	0.33515	L	.	.	.	.	.	.	0.122	0.11340	-0.8600	0.51263	T	0.193	0.54652	T	10	0.0077182353	0.00175	T	0.226834	0.88062	D	0.160	0.41473	.	.	0.362933182269	0.35899	0.7264299174291527	0.72586	0.153508229755	0.17316	0.373277664185	0.21302	T	0.011418	0.10189	T	-0.390963	0.02652	T	-0.329942	0.41474	T	0.0149901700767413	0.00322	T	0.90421	0.66396	D	0.33576554	0.55940	0.31499657	0.57488	0.33576554	0.55940	0.31499657	0.57487	-6.213	0.48028	T	.	.	0.174	0.38172	B	.	.	1.705199	0.21718	15.32	0.99643287406419756	0.76819	0.81980	0.41281	D	AEFI	.	.	.	.	.	.	.	.	.	0.999897227663305	0.45129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.85	4.97	0.65419	1.678000	0.37202	1.868000	0.29368	0.599000	0.40250	0.957000	0.33433	0.998000	0.33993	0.251000	0.23288	0.0:0.8041:0.1959:0.0	16.094	0.80919	900	0.24599	Domain of unknown function DUF1126|Uncharacterised domain DM10|Uncharacterised domain DM10	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.015214	0.000000	0.014842	0.031621	0.000000	0.011765	0.017699	0.005263	0.3	7136.92	35	chrX	44232585	.	C	T	7136.92	.	AC=6;AF=0.3;AN=20;DP=493;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=6;MLEAF=0.3;MQ=60;QD=29.01;SOR=0.76	GT:AD:DP:GQ:PL	1/1:0,96:96:99:2776,288,0	7	3	0	0
chrX	49039321	49039321	G	A	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon3:c.C5T:p.S2L,TFE3:NM_006521:exon3:c.C320T:p.S107L	Renal cell carcinoma, papillary, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00633501382377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264471344	3.693e-06	3.652e-06	4.101e-06	2.843e-06	3.338e-05	8.6e-07	5.8e-07	9.6e-07	2.7e-07	0	0	0	3.338e-05	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.213	0.26467	T	0.081	0.24602	B	0.006	0.12133	B	0.033198	0.24930	N	0.326142	0.592321	0.32467	D	1.7	0.43825	L	2.36	0.16089	T	-1.73	0.41046	N	0.299	0.33796	-1.0749	0.08369	T	0.033	0.14290	T	10	0.24231541	0.41425	T	0.006335	0.16639	T	0.049	0.13647	0.27	0.21893	0.138757226776	0.13463	0.5193158588637525	0.51854	0.814098478581	0.66863	0.759120702744	0.75799	T	0.589346	0.86673	D	-0.247526	0.14404	T	-0.59333	0.13380	T	0.7932049036026	0.45900	D	0.885811	0.61165	D	0.2122582	0.43572	0.26008326	0.51767	0.2122582	0.43572	0.26008326	0.51766	-3.557	0.17239	T	.	.	0.142	0.31177	B	.	.	4.345984	0.66707	25.0	0.99770152349359653	0.85834	0.95598	0.65363	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999971519615	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	4.5	0.54382	3.035000	0.49449	11.610000	0.93539	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.0948:0.0:0.9052:0.0	10.422	0.43544	36	0.98055	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	210.33	44	chrX	49039321	.	G	A	210.33	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.35;DP=461;ExcessHet=0.7463;FS=280.432;InbreedingCoeff=-0.3003;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=-0.037;SOR=8.409	GT:AD:DP:GQ:PL	0/1:39,21:60:83:83,0,572	4	0	3	3
chrX	49591239	49591239	G	C	exonic	GAGE2A;GAGE2B;GAGE2C	.	nonsynonymous SNV	GAGE2B:NM_001098411:exon3:c.G124C:p.E42Q,GAGE2A:NM_001127212:exon3:c.G124C:p.E42Q,GAGE2C:NM_001472:exon3:c.G124C:p.E42Q	.	719	796	7	0	0	7	0.00437774	.	.	.	2427987	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.157473108887	.	.	0.0002	0	0.0001	0	0	0.0001	0	0.0014	.	.	.	rs782567731	0.0001	0.0001	0.0002	0	0.0019	9.285e-05	8.546e-05	0.0010	0.0009	0	0	0	0	0	0.0019	4.724e-05	0.0001	0.0012	7.776e-05	9.27e-05	0.0001	0	0.0006	3.625e-05	2.571e-05	4.776e-05	3.078e-05	0	0	0	0	0	0	0.0056	0.0001	0	0.0006	0.242	0.17584	T	0.307	0.19908	T	0.997	0.70673	D	0.995	0.83170	D	.	.	.	.	1	0.08975	N	1.275	0.32135	L	2.76	0.11515	T	-0.98	0.25986	N	0.035	0.01004	-1.0219	0.23096	T	0.035	0.14943	T	9	0.03190556	0.01332	T	0.157473	0.83805	D	0.026	0.05648	0.301	0.26843	0.0401082797425	0.02173	0.008468814377004048	0.00810	.	.	.	.	.	0.009057	0.08271	T	-0.823822	0.00005	T	-1.00658	0.00127	T	0.112882897257805	0.13720	T	0.466753	0.13720	T	0.08280276	0.19091	0.048656292	0.07272	0.08280276	0.19091	0.048656292	0.07272	-4.182	0.26490	T	.	.	0.158	0.34884	B	.	.	0.286244	0.06629	3.124	0.98039619249071663	0.37782	0.00125	0.00780	N	AEFI	.	.	.	.	.	.	.	.	.	1.65398576066174E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.06	0.038	0.13516	-2.646000	0.00933	-20.000000	0.00162	-0.590000	0.04653	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4088:0.5912:0.0	4.609	0.11784	361	0.84870	GAGE|GAGE	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	1198.32	67	chrX	49591239	.	G	C	1198.32	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.909;DP=506;ExcessHet=0;FS=0.564;MLEAC=1;MLEAF=0.056;MQ=37.36;MQRankSum=-1.044;QD=6.08;ReadPosRankSum=0.701;SOR=0.626	GT:AD:DP:GQ:PL	0/1:133,64:197:99:1209,0,3354	8	0	1	1
chrX	54930743	54930743	G	A	exonic	TRO	.	nonsynonymous SNV	TRO:NM_001271183:exon10:c.G2612A:p.G871D,TRO:NM_001271184:exon11:c.G2828A:p.G943D,TRO:NM_001039705:exon12:c.G4019A:p.G1340D	.	431	1088	2	1	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0185322580024	0.0049	0.0013245	0.0040	0.0011	0.0016	0	0.0077	0.0055	0.0064	0.0019	0.0039068	604	154602	rs45438793	0.0060	0.0060	0.0062	0.0058	0.0071	0.0059	0.0059	0.0069	0.0069	0.0009	0.0014	0.0002	0	0.0063	0.0007	0.0071	0.0048	0.0020	0.0039	0.0039	0.0040	0.0036	0.0064	0.0036	0.0034	0.0059	0.0056	0.0009	0	0.0021	0	0	0.0053	0	0.0064	0.0032	0.0018	0.003	0.72154	D	0.064	0.45530	T	0.714	0.42167	P	0.287	0.40572	B	.	.	.	.	0.999999	0.27885	N	1.675	0.43121	L	3.53	0.04852	T	-1.18	0.30140	N	0.13	0.18784	-0.9891	0.32828	T	0.011	0.04134	T	9	0.00421834	0.00084	T	0.018532	0.40624	T	0.047	0.12962	.	.	0.49676076625	0.49313	0.5887888548704555	0.58808	0.50681636426	0.48873	0.449943006039	0.31935	T	0.103384	0.41200	T	-0.649239	0.00073	T	-0.701777	0.05729	T	0.0278239442332322	0.01662	T	0.59564	0.35555	T	0.31000856	0.53787	0.29474315	0.55505	0.31000856	0.53787	0.29474315	0.55504	-7.292	0.56138	T	.	.	0.116	0.28693	B	.;.;.;.	.;.;.;.	1.391865	0.18044	13.52	0.90964002902904995	0.20213	0.04367	0.09940	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00314597987317509	0.09954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.76	-0.913	0.09966	1.206000	0.31926	2.181000	0.31130	-0.161000	0.11593	0.007000	0.17678	1.000000	0.68203	0.997000	0.79791	0.1228:0.5492:0.328:0.0	6.558	0.21668	203	0.92088	.;.;.;.	.	.	.	.	.	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	0.003546	0.006803	0.001855	0.000000	0.000000	0.000000	0.000000	0.015789	0.1	4552.12	35	chrX	54930743	.	G	A	4552.12	.	AC=2;AF=0.1;AN=20;DP=483;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.55;SOR=1.119	GT:AD:DP:GQ:PL	1/1:0,149:149:99:4575,447,0	9	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	0.6	158397.0	692	chrX	55146104	.	G	A	158397.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.32;DP=6323;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6653;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=25.85;ReadPosRankSum=0.287;SOR=0.699	GT:AD:DP:GQ:PL	1/1:62,552:614:53:15409,53,0	0	2	8	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	0.3333	11747.7	759	chrX	55146139	.	G	A	11747.7	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.35;DP=6406;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.98;ReadPosRankSum=1.78;SOR=0.663	GT:AD:DP:GQ:PL	0/1:390,281:671:99:5839,0,10279	3	0	6	1
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	0.3889	17194.3	727	chrX	55146173	.	G	A	17194.3	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-0.183;DP=6264;ExcessHet=7.0302;FS=0.657;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=3.88;ReadPosRankSum=-1.269;SOR=0.764	GT:AD:DP:GQ:PL	0/1:383,265:648:99:5714,0,10777	2	0	7	1
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	0.4	18556.0	651	chrX	55146197	.	G	A	18556.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.77;DP=5678;ExcessHet=10.3881;FS=1.386;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=0.06;SOR=0.804	GT:AD:DP:GQ:PL	0/1:351,212:563:99:4774,0,10478	2	0	8	0
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	.	.	.	.	.	.	.	.	0.55	134143.0	565	chrX	55146212	.	C	T	134143.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=2.02;DP=5292;ExcessHet=15.1594;FS=0.71;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=26.73;ReadPosRankSum=1.7;SOR=0.564	GT:AD:DP:GQ:PL	0/1:78,426:504:99:14924,0,653	0	1	9	0
chrX	55146226	55146226	A	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T209C:p.I70T,FAM104B:NM_001166700:exon3:c.T209C:p.I70T,FAM104B:NM_001166701:exon3:c.T206C:p.I69T,FAM104B:NM_001166702:exon3:c.T197C:p.I66T,FAM104B:NM_001166703:exon3:c.T203C:p.I68T,FAM104B:NM_138362:exon3:c.T206C:p.I69T	.	377	953	191	1	0	193	0.0919485	.	.	.	2292730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00406903138937	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs5018687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.268	0.22694	T	0.393	0.34680	B	0.291	0.53365	B	0.039374	0.24178	N	0.273281	1	0.08975	N	0.64	0.16041	N	0.95	0.43279	T	-0.72	0.25332	N	0.2	0.23506	-0.9521	0.40608	T	0.090	0.34463	T	10	0.055033892	0.05951	T	0.004069	0.09712	T	0.021	0.04004	.	.	0.141422826196	0.13715	0.06275098226723172	0.06214	0.248494845932	0.27412	0.330263495445	0.14974	T	0.020098	0.15887	T	-0.449697	0.01134	T	-0.883735	0.00624	T	0.0690480346428045	0.08518	T	0.637636	0.25136	T	0.03846359	0.05127	0.06403163	0.12771	0.03846359	0.05127	0.06403163	0.12771	-2.966	0.10052	T	.	.	0.086	0.10787	B	.;.;.;.;.	.;.;.;.;.	-0.138938	0.03417	0.621	0.94453687128581543	0.24887	0.00870	0.03447	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988350960953	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.877	0.10083	-0.230000	0.09093	-3.501000	0.02739	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.5262:0.0:0.4738:0.0	4.189	0.09871	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	.	.	.	.	.	.	.	.	0.3	8214.98	454	chrX	55146226	.	A	G	8214.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.09;DP=4470;ExcessHet=4.5998;FS=0.676;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=2.83;ReadPosRankSum=0.786;SOR=0.622	GT:AD:DP:GQ:PL	0/1:390,57:447:99:311,0,13698	4	0	6	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.35	12199.0	433	chrX	55146247	.	G	C	12199.0	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.305;DP=3949;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.67;ReadPosRankSum=0.28;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:252,127:379:99:0|1:55146247_G_C:4315,0,9962:55146247	3	0	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	12021.9	417	chrX	55146252	.	A	AT	12021.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.697;DP=3806;ExcessHet=7.0302;FS=0.667;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.372;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:241,116:357:99:0|1:55146247_G_C:4049,0,9675:55146247	3	0	7	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	.	.	.	.	.	.	.	.	0.55	71226.0	403	chrX	55146254	.	T	C	71226.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.498;DP=3799;ExcessHet=15.1594;FS=1.854;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=19.82;ReadPosRankSum=-1.02;SOR=0.524	GT:AD:DP:GQ:PL	0/1:175,166:341:99:5070,0,6386	0	1	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	11620.9	409	chrX	55146255	.	TG	T	11620.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.137;DP=3477;ExcessHet=7.0302;FS=0.698;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.81;ReadPosRankSum=-0.267;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:230,109:339:99:0|1:55146247_G_C:3885,0,9330:55146247	3	0	7	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	0.55	71590.0	324	chrX	55146275	.	T	G	71590.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=0.041;DP=2982;ExcessHet=15.1594;FS=7.491;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=25.64;ReadPosRankSum=-3.645;SOR=0.437	GT:AD:DP:GQ:PL	0/1:46,191:237:99:6956,0,1128	0	1	9	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	.	.	.	.	.	.	.	.	0.35	10330.0	270	chrX	55146283	.	C	T	10330.0	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.191;DP=2533;ExcessHet=7.0302;FS=1.237;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=5.88;ReadPosRankSum=-0.86;SOR=0.773	GT:AD:DP:GQ:PL	0/1:147,47:194:99:800,0,4431	3	0	7	0
chrX	68063950	68063950	C	A	exonic	OPHN1	.	nonsynonymous SNV	OPHN1:NM_002547:exon21:c.G2062T:p.A688S	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, X-linked recessive	3	1510	6	3	0	12	0.00395778	.	.	.	581027	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.052	0.00801115731321	0.0003	.	0.0002	0	0	0	0	0.0002	0	0.0006	0.0001164	18	154602	rs199985543	0.0001	0.0001	0.0001	0.0001	0.0008	9.517e-05	8.914e-05	0.0006	0.0005	3.791e-05	0	5.196e-05	0	0	0.0005	8.444e-05	0.0001	0.0008	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0003	0.0002	0	0	0	0	0	0	0.0047	0.0003	0	0.0012	0.214	0.19361	T	0.563	0.09022	T	0.437	0.35811	B	0.079	0.28749	B	0.628488	0.10710	N	0.840010	0.999998	0.58761	D	1.5	0.37844	L	0.37	0.57729	T	0.31	0.04022	N	0.013	0.00142	-1.0854	0.06335	T	0.065	0.26913	T	10	0.020160109	0.00460	T	0.008011	0.21239	T	0.052	0.14661	.	.	0.453355646836	0.44958	0.14333798803478884	0.14256	0.108704804716	0.12261	0.317064553499	0.12976	T	0.037865	0.24634	T	-0.636397	0.00088	T	-0.792232	0.02104	T	0.0361243636386479	0.03002	T	0.59504	0.22051	T	0.06756745	0.14643	0.077193834	0.17173	0.06756745	0.14643	0.077193834	0.17173	-3.13	0.11644	T	.	.	0.082	0.08512	B	.	.	0.938481	0.13140	9.642	0.95496962069569757	0.27082	0.66499	0.33099	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0963765374112277	0.16251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.04	2.27	0.27501	0.927000	0.28418	0.924000	0.22727	-0.823000	0.02940	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.1911:0.6018:0.0:0.207	3.806	0.08295	388	0.83355	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1	2082.12	34	chrX	68063950	.	C	A	2082.12	.	AC=2;AF=0.1;AN=20;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.62;SOR=0.88	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2105,204,0	9	1	0	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.4	6265.98	352	chrX	74591904	.	A	G	6265.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.776;DP=1908;ExcessHet=10.3881;FS=2.691;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=58.48;MQRankSum=-11.5;QD=3.42;ReadPosRankSum=3.83;SOR=0.478	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,14:168:99:0|1:74591902_T_A:124,0,6414:74591902	2	0	8	0
chrX	87518112	87518117	ACTGGC	-	exonic	KLHL4	.	nonframeshift deletion	KLHL4:NM_019117:exon1:c.219_224del:p.L74_A75del,KLHL4:NM_057162:exon1:c.219_224del:p.L74_A75del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	3.84e-05	1	26028	rs746719631	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0006	0.0005	7.576e-05	0	0	0	4.939e-05	0	0.0002	2.17e-05	0.0008	7.136e-05	8.702e-05	2.57e-05	0.0002	0.0007	3.463e-05	2.511e-05	0.0001	5.509e-05	3.237e-05	0	0	0	0	0	0	9.395e-05	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2972.08	35	chrX	87518111	.	TACTGGC	T	2972.08	.	AC=2;AF=0.1;AN=20;DP=376;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.5;SOR=1.146	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2995,202,0	9	1	0	0
chrX	101837842	101837842	T	C	splicing	NXF5	NM_032946:exon14:c.861-2A>G	.	.	.	.	.	.	.	.	.	.	0.9999	0.848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.734e-06	2.732e-06	2.722e-06	2.756e-06	0.0002	7.3e-07	2e-07	4e-07	1.5e-07	0	0	0	0	0	0.0002	2.377e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0745386	0.40600	T	-0.344846	0.39794	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.990415	0.58732	24.0	0.7594037366881613	0.11270	0.98145	0.79986	D	AEFI	.	.	.	.	.	.	.	.	.	0.00562926216291384	0.10996	.	.	.	.	.	.	.	.	.	.	.	.	0.692431	0.42671	2.33	2.33	0.27981	7.306000	0.78218	7.832000	0.70156	0.462000	0.21616	1.000000	0.71638	0.999000	0.35428	0.067000	0.16453	0.0:0.0:0.0:1.0	7.883	0.28794	111	0.95468	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	2612.43	34	chrX	101837842	.	T	C	2612.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.819;DP=392;ExcessHet=0;FS=5.216;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=59.43;MQRankSum=0.26;QD=22.52;ReadPosRankSum=0.249;SOR=1	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1331,114,0	8	1	1	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	.	.	.	.	.	.	.	.	0.4	353.72	80	chrX	135580144	.	G	C	353.72	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.669;DP=603;ExcessHet=10.3881;FS=244.206;InbreedingCoeff=-0.6585;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=-0.147;SOR=10.741	GT:AD:DP:GQ:PL	0/1:18,13:38:64:64,0,284	2	0	8	0