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	NSWES942-M	WT	HH	HZ	NC
chr1	19243991	19243991	G	A	exonic	EMC1	.	nonsynonymous SNV	EMC1:NM_001271427:exon3:c.C245T:p.T82M,EMC1:NM_001271428:exon3:c.C245T:p.T82M,EMC1:NM_001375820:exon3:c.C245T:p.T82M,EMC1:NM_001375821:exon3:c.C245T:p.T82M,EMC1:NM_015047:exon3:c.C245T:p.T82M	Cerebellar atrophy, visual impairment, and psychomotor retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	216792	EMC1-related_disorder|not_provided|Cerebellar_atrophy,_visual_impairment,_and_psychomotor_retardation%3B|Inborn_genetic_diseases|not_specified	.|MedGen:C3661900|MONDO:MONDO:0014811,MedGen:C4225172,OMIM:616875|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.148	0.0121936954801	.	.	.	.	.	.	.	.	.	.	.	.	.	rs869320625	2.189e-05	2.189e-05	2.45e-05	1.925e-05	2.698e-05	1.584e-05	1.356e-05	1.914e-05	1.661e-05	0	0	0	0	0	0	2.698e-05	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.50676	D	0.186	0.28860	T	0.988	0.66517	D	0.828	0.59497	P	0.000006	0.62929	D	0.143658	0.996625	0.81001	D	1.67	0.42885	L	0.89	0.45636	T	-1.18	0.31576	N	0.816	0.81162	-0.9312	0.43963	T	0.172	0.51484	T	10	0.7221659	0.73735	D	0.012194	0.30540	T	0.148	0.39182	.	.	0.77875509527	0.77672	0.46665215934089405	0.46584	0.97207340511	0.73401	0.499712109566	0.38788	T	0.015148	0.12759	T	-0.151847	0.28022	T	-0.35904	0.38163	T	0.768307268619537	0.44338	D	0.966103	0.87544	D	0.048998058	0.08630	0.061029535	0.11720	0.05895431	0.11923	0.061029535	0.11720	-7.445	0.57243	T	.	.	0.089	0.25462	B	.;.	.;.	4.771348	0.77247	26.7	0.99878478987883057	0.95491	0.97402	0.74521	D	AEFBI	0.477328	0.52036	N	0.599481369089772	0.73143	5.918114	0.636163549955684	0.77583	6.707588	0.974983052718382	0.29592	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	5.08	0.68373	4.929000	0.63156	8.532000	0.77460	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:0.1379:0.862:0.0	15.580	0.76171	754	0.51307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1350.43	34	chr1	19243991	.	G	A	1350.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.147;DP=451;ExcessHet=0;FS=4.143;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.114;SOR=0.668	GT:AD:DP:GQ:PL	0/1:74,60:134:99:1362,0,1830	9	0	1	0
chr1	37708312	37708314	TTC	-	intronic	CDCA8	.	.	.	.	430	656	353	83	0	519	0.283452	.	.	.	1310279	Neutrophil_inclusion_bodies|CDCA8-related_condition|not_specified	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2158	0.364217	0.2783	0.2577	0.4416	0.7111	0.2264	0.1916	0.2695	0.3211	0.0001537	4	26028	rs145033890	0.2126	0.2132	0.2108	0.2144	0.6712	0.2120	0.2117	0.6645	0.6617	0.2510	0.4088	0.2738	0.6712	0.2205	0.2368	0.1761	0.2370	0.3125	0.2412	0.2420	0.2349	0.2479	0.6862	0.2391	0.2383	0.6673	0.6596	0.2534	0.1154	0.3139	0.2784	0.6862	0.2248	0.2021	0.1800	0.2481	0.3272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	21220.9	153	chr1	37708311	.	TTTC	T	21220.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.353;DP=1240;ExcessHet=7.0302;FS=0.525;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=19.34;ReadPosRankSum=-0.13;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,82:143:99:.:.:3232,0,2294:.	3	0	7	0
chr1	42750259	42750259	C	T	exonic	P3H1	.	nonsynonymous SNV	P3H1:NM_001146289:exon11:c.G1647A:p.M549I,P3H1:NM_001243246:exon11:c.G1647A:p.M549I,P3H1:NM_022356:exon11:c.G1647A:p.M549I	Osteogenesis imperfecta, type VIII, Autosomal recessive	0	1349	159	14	0	187	0.064818	.	.	.	365254	not_specified|Osteogenesis_imperfecta_type_8|Osteogenesis_Imperfecta,_Recessive	MedGen:CN169374|MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915|MedGen:CN239451	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.028	.	0.0623	0.057508	0.0719	0.0267	0.0355	0.0424	0.0858	0.0810	0.0648	0.0991	0.0700832	10835	154602	rs11581921	0.0779	0.0779	0.0772	0.0786	0.0905	0.0775	0.0774	0.0888	0.0881	0.0223	0.0398	0.0271	0.0383	0.0773	0.0454	0.0835	0.0687	0.0905	0.0602	0.0604	0.0601	0.0603	0.0944	0.0592	0.0587	0.0873	0.0844	0.0253	0.0647	0.0576	0.0259	0.0431	0.0785	0.0374	0.0797	0.0659	0.0944	0.404	0.15354	T	0.447	0.13066	T	0.008	0.15535	B	0.01	0.14941	B	0.000622	0.42799	N	0.244651	0.886722	0.27954	N	-0.805	0.01590	N	1.09	0.39223	T	0.64	0.02368	N	0.142	0.14196	-1.1055	0.03486	T	0.003	0.00961	T	10	0.0016106963	0.00019	T	.	.	.	0.028	0.06331	0.364	0.37036	.	.	0.5434565235910352	0.54271	0.209664287682	0.23441	0.454124242067	0.32508	T	0.049955	0.28457	T	-0.578798	0.00196	T	-0.532112	0.19077	T	0.00892420019926719	0.00111	T	0.791621	0.44736	T	0.07865807	0.17925	0.05993935	0.11332	0.06477003	0.13774	0.051074196	0.08146	-3.685	0.21553	T	0.0868220304280723	0.05036	0.294	0.63214	B	.;.;.	.;.;.	2.559118	0.33143	19.25	0.96467838080981627	0.29925	0.79879	0.39672	D	AEFBI	0.305921	0.41321	N	-0.340966266133552	0.27605	1.515937	-0.154244508031221	0.33246	1.899718	0.966672844025438	0.28921	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.13	4.22	0.49153	0.662000	0.24721	2.736000	0.34426	0.537000	0.25018	0.998000	0.41325	1.000000	0.68203	0.963000	0.52385	0.0:0.8093:0.0:0.1907	7.634	0.27424	507	0.75469	.;.;Prolyl 4-hydroxylase, alpha subunit	C1orf50|RP5-994D16.9|RP5-994D16.9|RP5-994D16.9|P3H1|PPIH	Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Spleen|Testis	P3H1|P3H1|P3H1|P3H1|P3H1	Adipose_Visceral_Omentum|Esophagus_Muscularis|Lung|Nerve_Tibial|Whole_Blood	rs11581921	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	0.047883	0.020408	0.043597	0.038012	0.100000	0.043103	0.051829	0.090909	0.05	1437.43	34	chr1	42750259	.	C	T	1437.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.162;DP=453;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-1.471;SOR=0.727	GT:AD:DP:GQ:PL	0/1:63,64:127:99:1449,0,1424	9	0	1	0
chr1	55052420	55052420	G	A	intronic	PCSK9	.	.	.	Hypercholesterolemia, familial, 3	2	1308	202	10	0	222	0.0782241	.	.	.	249986	Familial_hypercholesterolemia|not_specified|Hypercholesterolemia,_autosomal_dominant,_3|Hypercholesterolemia,_familial,_1|Hypobetalipoproteinemia|Cardiovascular_phenotype	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0457	0.0391374	0.0424	0.0404	0.0280	0.0311	0.0208	0.0476	0.0474	0.0471	0.0415907	6430	154602	rs11800243	0.0427	0.0427	0.0426	0.0429	0.1242	0.0425	0.0423	0.1167	0.1137	0.0413	0.0294	0.0973	0.0263	0.0236	0.1242	0.0428	0.0472	0.0439	0.0403	0.0404	0.0420	0.0386	0.0449	0.0395	0.0391	0.0411	0.0406	0.0394	0.0439	0.0355	0.0931	0.0298	0.0173	0.1531	0.0424	0.0550	0.0449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5243.14	33	chr1	55052420	.	G	A	5243.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.67;DP=840;ExcessHet=0.2348;FS=1.25;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=0.493;SOR=0.768	GT:AD:DP:GQ:PL	0/1:91,99:190:99:2663,0,2171	8	0	2	0
chr1	55057360	55057360	A	G	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q	Hypercholesterolemia, familial, 3	1	0	1	1520	0	3041	1	.	.	.	249989	Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_3|Hypercholesterolemia,_familial,_1|not_provided|not_specified|Cardiovascular_phenotype|Hypobetalipoproteinemia	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9797	0.981829	0.9945	0.9420	0.9982	1	0.9997	0.9996	0.9956	0.9999	0.969172	149836	154602	rs509504	0.9983	0.9983	0.9981	0.9986	1.0000	0.9970	0.9964	0.9984	0.9977	0.9410	0.9968	1.0000	1.0000	1.0000	0.9984	0.9999	0.9967	0.9998	0.9835	0.9835	0.9830	0.9841	1.0000	0.9794	0.9776	0.9936	0.9910	0.9422	1.0000	0.9956	1.0000	1.0000	1.0000	0.9966	0.9999	0.9877	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.994965	0.974747	0.994565	0.997076	1.000000	1.000000	0.996951	1.000000	1.0	53564.2	184	chr1	55057360	.	A	G	53564.2	.	AC=20;AF=1;AN=20;DP=1789;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=20;MLEAF=1;MQ=60;QD=30.77;SOR=0.741	GT:AD:DP:GQ:PL	1/1:0,168:168:99:5308,503,0	0	10	0	0
chr1	89054647	89054652	AAAAAC	-	intronic	GBP1	.	.	.	.	630	387	266	239	0	744	0.490119	.	.	.	1310281	Neutrophil_inclusion_bodies	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	0.4335	0.384984	0.4653	0.2752	0.3198	0.3797	0.6032	0.5117	0.4919	0.4927	0.0001921	5	26028	rs66614512	0.5009	0.4988	0.4991	0.5027	0.5162	0.4999	0.4995	0.5150	0.5146	0.2892	0.3353	0.4420	0.3415	0.6034	0.4709	0.5162	0.4810	0.5115	0.4382	0.4403	0.4351	0.4415	0.5215	0.4354	0.4343	0.5169	0.5151	0.2908	0.4658	0.3465	0.4346	0.3728	0.6123	0.5069	0.5215	0.4378	0.5102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	6690.94	39	chr1	89054646	.	GAAAAAC	G	6690.94	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.661;DP=417;ExcessHet=1.0516;FS=4.297;InbreedingCoeff=-0.0101;MLEAC=9;MLEAF=0.45;MQ=59.81;MQRankSum=0;QD=23.07;ReadPosRankSum=-0.045;SOR=0.967	GT:AD:DP:GQ:PL	0/1:20,18:38:99:695,0,782	3	2	5	0
chr1	94010911	94010911	T	A	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon40:c.A5603T:p.N1868I	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	0	1394	119	9	0	137	0.0468376	.	.	YES	105279	Age_related_macular_degeneration_2|Retinal_dystrophy|Stargardt_disease|Cone-rod_dystrophy_3|Severe_early-childhood-onset_retinal_dystrophy|ABCA4-related_retinopathy|Macular_degeneration|Retinitis_pigmentosa|ABCA4-related_disorder|Stargardt_Disease,_Recessive|Retinitis_Pigmentosa,_Recessive|Cone-Rod_Dystrophy,_Recessive|not_provided|not_specified	MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|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:0019353,MedGen:C0271093,Orphanet:827|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orphanet:1872|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827|MONDO:MONDO:0800406,MedGen:CN322612|Human_Phenotype_Ontology:HP:0000608,Human_Phenotype_Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN239167|MedGen:CN239312|MedGen:CN239466|MedGen:CN239309|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.402	.	0.0477	0.0207668	0.0446	0.0105	0.0248	0	0.0411	0.0657	0.0420	0.0192	0.045394	7018	154602	rs1801466	0.0574	0.0574	0.0583	0.0565	0.0674	0.0571	0.0569	0.0670	0.0668	0.0086	0.0224	0.0319	5.038e-05	0.0402	0.0447	0.0674	0.0465	0.0190	0.0404	0.0403	0.0427	0.0380	0.0663	0.0395	0.0392	0.0647	0.0641	0.0112	0.0581	0.0261	0.0340	0	0.0406	0.0544	0.0663	0.0347	0.0160	0.001	0.78490	D	0.011	0.69154	D	0.459	0.36338	P	0.175	0.35598	B	0.002461	0.36537	N	0.321128	0.999788	0.81001	D	2.415	0.69758	M	-2.88	0.91533	D	-4.91	0.81595	D	0.209	0.51672	0.661	0.92685	D	0.728	0.90701	D	10	0.0069182813	0.00157	T	.	.	.	0.402	0.71558	.	.	.	.	0.7971400618589359	0.79667	0.412325355486	0.41975	0.317802816629	0.13088	T	0.671782	0.93558	D	-0.266919	0.12103	T	-0.103538	0.63123	T	0.0502051629063343	0.05536	T	0.887111	0.61484	D	0.74764305	0.80732	0.70142317	0.82406	0.7912946	0.83356	0.7233697	0.83664	-9.325	0.69763	D	.	.	0.216	0.45433	B	.;.	.;.	2.915032	0.38680	20.8	0.9199950111978572	0.21334	0.97269	0.73696	D	AEFBI	0.603337	0.59485	D	0.0262651168874368	0.43051	2.605779	-0.0309068510218861	0.38327	2.256456	0.999999997282578	0.74766	0.516011	0.20929	0	0.563428	0.19063	0	0.563428	0.18855	0	0.586402	0.36253	0	.	.	4.76	4.76	0.60189	3.423000	0.52517	2.833000	0.35033	0.609000	0.47794	0.992000	0.37556	0.996000	0.32793	0.175000	0.21139	0.0:0.0:0.0:1.0	14.708	0.68820	398	0.82839	.;.	TMED5	Testis	.	.	.	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	0.039315	0.020202	0.035326	0.038012	0.050000	0.051724	0.070552	0.026515	0.1	5434.14	36	chr1	94010911	.	T	A	5434.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.491;DP=804;ExcessHet=0.2348;FS=1.094;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.692;SOR=0.607	GT:AD:DP:GQ:PL	0/1:95,115:210:99:2924,0,2278	8	0	2	0
chr1	100196432	100196436	AAAAA	-	intronic	DBT	.	.	.	Maple syrup urine disease, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	265476	not_specified|Maple_syrup_urine_disease	MedGen:CN169374|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0.0066	0.0042	0.0164	0.0059	0.0154	0.0085	0.0369	0.0001153	3	26028	rs754946346	0.2509	0.2144	0.2509	0.2508	0.2606	0.2498	0.2493	0.2593	0.2588	0.1819	0.1956	0.2418	0.2549	0.2214	0.2604	0.2606	0.2479	0.2067	0.4488	0.4676	0.4467	0.4515	0.5509	0.4449	0.4433	0.5225	0.5111	0.3944	0.4656	0.5092	0.4787	0.4831	0.4988	0.5319	0.4530	0.4726	0.5509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2342.55	14	chr1	100196431	.	GAAAAA	G	2342.55	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0;DP=254;ExcessHet=0;FS=40.233;InbreedingCoeff=0.5012;MLEAC=4;MLEAF=0.2;MQ=59.98;MQRankSum=0;QD=30.82;ReadPosRankSum=0.842;SOR=2.471	GT:AD:DP:GQ:PL	0/1:0,2:9:32:346,170,150	7	1	2	0
chr1	109608722	109608722	C	T	exonic	GNAT2	.	nonsynonymous SNV	GNAT2:NM_005272:exon4:c.G370A:p.V124M,GNAT2:NM_001377295:exon5:c.G370A:p.V124M,GNAT2:NM_001379232:exon5:c.G370A:p.V124M	Achromatopsia 4	0	1512	9	1	0	11	0.00362438	.	.	.	194412	GNAT2-related_disorder|Retinal_dystrophy|not_specified|not_provided|Achromatopsia_4	.|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013465,MedGen:C1841721,OMIM:613856,Orphanet:49382	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.335	0.0446554630595	0.0045	0.00259585	0.0054	0.0009	0.0021	0	0.0032	0.0075	0.0066	0.0061	0.0055821	863	154602	rs41280330	0.0069	0.0069	0.0070	0.0069	0.0079	0.0068	0.0068	0.0077	0.0077	0.0010	0.0022	0.0036	0	0.0042	0.0059	0.0079	0.0067	0.0061	0.0044	0.0044	0.0045	0.0043	0.0075	0.0041	0.0040	0.0065	0.0063	0.0012	0	0.0032	0.0020	0.0004	0.0030	0	0.0071	0.0043	0.0075	0.046	0.40573	D	0.065	0.44702	T	0.99	0.63424	D	0.738	0.55619	P	0.005516	0.32736	N	0.287924	0.868387	0.35516	D	1.63	0.41750	L	-2.43	0.88689	D	-0.41	0.14000	N	0.426	0.46555	0.530	0.90961	D	0.714	0.90196	D	10	0.008829892	0.00200	T	0.044655	0.61597	D	0.335	0.65718	.	.	0.921974883161	0.92118	0.8104456628994533	0.80999	0.354423072536	0.37217	0.497574865818	0.38490	T	0.423673	0.77435	T	-0.23169	0.16426	T	-0.096188	0.63691	T	0.0494856905650249	0.05409	T	0.973003	0.90263	D	0.19789441	0.41672	0.24691439	0.50211	0.18797	0.40274	0.24691439	0.50210	-5.791	0.44496	T	0.2074948243035606	0.27734	0.243	0.47697	B	.	.	4.155617	0.62368	24.4	0.99895602382781312	0.96895	0.91798	0.54285	D	AEFBI	0.437475	0.49726	N	0.562450296784154	0.70845	5.56152	0.525014713537541	0.69678	5.394781	0.99998920776304	0.51787	0.421363	0.06395	0	0.550933	0.16991	0	0.491513	0.07944	0	0.664235	0.64389	0	.	.	4.69	4.69	0.58546	2.020000	0.40630	7.667000	0.64568	0.599000	0.40250	0.897000	0.31356	1.000000	0.68203	0.842000	0.39752	0.0:1.0:0.0:0.0	17.774	0.88411	851	0.35303	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.002717	0.014620	0.000000	0.000000	0.000000	0.003788	0.05	2435.43	33	chr1	109608722	.	C	T	2435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.3;DP=536;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.169;SOR=0.693	GT:AD:DP:GQ:PL	0/1:98,98:196:99:2447,0,2184	9	0	1	0
chr1	158668076	158668076	A	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277732	Pyropoikilocytosis,_hereditary|not_provided|Spherocytosis,_Recessive|Elliptocytosis	Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:C3661900|MedGen:CN239472|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.295927	0.2594	0.3676	0.2026	0.2423	0.2213	0.2473	0.2422	0.3088	0.0001153	3	26028	rs5778087	0.2240	0.2318	0.2228	0.2252	0.3653	0.2233	0.2230	0.3595	0.3571	0.3653	0.1704	0.2138	0.2344	0.1747	0.2460	0.2196	0.2324	0.2731	0.2818	0.2831	0.2829	0.2807	0.4731	0.2795	0.2785	0.4673	0.4649	0.4731	0.0657	0.1879	0.2095	0.2214	0.1760	0.2259	0.2103	0.2655	0.2866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	7287.34	63	chr1	158668075	.	GA	G	7287.34	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.759;DP=622;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=18.22;ReadPosRankSum=-0.222;SOR=0.701	GT:AD:DP:GQ:PL	0/1:27,10:41:79:79,0,604	2	0	8	0
chr1	161214269	161214269	-	TG	UTR3	NDUFS2	NM_001377298:c.*76_*77insTG;NM_001377300:c.*328_*329insTG;NM_001377301:c.*328_*329insTG;NM_004550:c.*76_*77insTG;NM_001166159:c.*328_*329insTG;NM_001377299:c.*76_*77insTG;NM_001377302:c.*119_*120insTG	.	.	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	277997	not_provided|Mitochondrial_complex_I_deficiency	MedGen:C3661900|MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs10629771	0.1891	0.2001	0.1864	0.1915	0.3431	0.1882	0.1879	0.3377	0.3355	0.2667	0.2662	0.2049	0.3431	0.2001	0.2120	0.1597	0.2040	0.2476	0.2808	0.2843	0.2797	0.2819	0.4674	0.2785	0.2776	0.4514	0.4450	0.3792	0.1481	0.2737	0.2503	0.4674	0.2163	0.2877	0.2202	0.2911	0.3197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4867.77	26	chr1	161214269	.	C	CTG	4867.77	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.191;DP=419;ExcessHet=2.8549;FS=5.908;InbreedingCoeff=-0.2492;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=24.46;ReadPosRankSum=0.823;SOR=0.209	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,11:19:99:.:.:266,0,197:.	5	0	5	0
chr1	161223056	161223061	CACACA	-	intronic	APOA2	.	.	.	Apolipoprotein A-II deficiency (3)	.	.	.	.	.	.	.	.	.	.	278001	Apolipoprotein_A-II_deficiency|APOA2-related_disorder|not_specified	MedGen:C3888202|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2676	0.2838	0.2889	0.3239	0.2824	0.2425	0.2683	0.3068	0.0001153	3	26028	rs141599125	0.2640	0.2643	0.2635	0.2644	0.3260	0.2632	0.2630	0.3212	0.3193	0.2963	0.2953	0.2656	0.3260	0.2789	0.2856	0.2556	0.2720	0.2986	0.3231	0.3245	0.3194	0.3271	0.3985	0.3207	0.3197	0.3839	0.3779	0.3433	0.3060	0.3376	0.3225	0.3985	0.3523	0.2740	0.2943	0.3310	0.3783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	19848.5	67	chr1	161223055	.	CCACACA	C	19848.5	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.205;DP=1096;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=6;MLEAF=0.3;MQ=59.99;MQRankSum=0;QD=29.15;ReadPosRankSum=0.157;SOR=0.693	GT:AD:DP:GQ:PL	0/1:24,45:77:99:1762,0,1071	4	1	5	0
chr1	162780421	162780421	T	-	UTR3	DDR2	NM_001354983:c.*175delT;NM_001354982:c.*175delT;NM_006182:c.*175delT;NM_001014796:c.*175delT	.	.	Spondylometaepiphyseal dysplasia, short limb-hand type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278135	not_provided|Spondyloepimetaphyseal_dysplasia	MedGen:CN517202|Human_Phenotype_Ontology:HP:0002651,MONDO:MONDO:0100510,MedGen:C0432211	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs368292827	0.1984	0.1825	0.1988	0.1981	0.4303	0.1974	0.1970	0.4208	0.4169	0.4303	0.3124	0.1389	0.3468	0.1546	0.1969	0.1756	0.2123	0.2306	0.3284	0.3288	0.3279	0.3290	0.5636	0.3259	0.3249	0.5574	0.5548	0.5636	0.3086	0.3706	0.1435	0.4245	0.1593	0.2695	0.2055	0.3059	0.3194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1064.05	11	chr1	162780420	.	CT	C	1064.05	.	AC=2;AF=0.167;AN=12;DP=30;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;QD=32.17;SOR=3.014	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,5:5:15:1|1:162780418_C_T:225,15,0:162780418	5	1	0	4
chr1	169529737	169529737	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon16:c.A5290G:p.M1764V	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	1	683	630	208	0	1046	0.433665	.	.	.	249501	Congenital_factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|not_specified|not_provided	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.230	.	0.2894	0.308706	0.3351	0.1905	0.5327	0.2606	0.2965	0.3211	0.3469	0.3980	0.331005	51174	154602	rs6030	0.3320	0.3320	0.3303	0.3337	0.5036	0.3312	0.3309	0.4981	0.4958	0.1908	0.5036	0.2433	0.2974	0.2961	0.3432	0.3294	0.3217	0.4015	0.2994	0.2996	0.2954	0.3036	0.4414	0.2971	0.2962	0.4325	0.4289	0.1962	0.1919	0.4414	0.2414	0.2702	0.2903	0.3129	0.3306	0.3275	0.4006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.799742	0.09333	N	0.908379	1	0.08975	P	-1.195	0.00846	N	-5.02	0.98562	D	0.77	0.01949	N	0.006	0.00044	-0.4336	0.70946	T	0.433	0.77400	T	9	0.00013938546	0.00010	T	.	.	.	0.230	0.53062	.	.	.	.	0.5774194888175482	0.57670	0.0874476088007	0.09862	0.202470511198	0.00532	T	0.012008	0.10625	T	-0.558879	0.00258	T	-0.431747	0.29737	T	0.00389668243981471	0.00041	T	0.0319468	0.00204	T	0.10963965	0.25921	0.15528889	0.36408	0.11500659	0.27143	0.10465255	0.25139	-1.936	0.02949	T	0.0630923633968402	0.01915	0.051	0.00195	B	.;.	.;.	-1.215408	0.00515	0.012	0.69920481567361925	0.09127	0.03239	0.08258	N	AEFGBCIJ	0.145810	0.26911	N	-1.46881193792389	0.02073	0.09117123	-1.39284912778787	0.03328	0.1549985	0.999997398089242	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.172119	0.04147	3	0.564101	0.26826	0	.	.	5.32	-2.86	0.05376	-2.274000	0.01245	-8.462000	0.00965	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0923:0.1961:0.2724:0.4392	3.252	0.06416	772	0.48957	.;.	ATP1B1	Testis	.	.	rs6030	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	0.324270	0.373737	0.269022	0.406433	0.250000	0.370690	0.277439	0.352273	0.45	14363.0	41	chr1	169529737	.	T	C	14363.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.102;DP=868;ExcessHet=0.0657;FS=1.298;InbreedingCoeff=0.3939;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=20.4;ReadPosRankSum=0.383;SOR=0.602	GT:AD:DP:GQ:PL	0/1:47,76:123:99:1952,0,1103	4	3	3	0
chr1	169542517	169542517	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon13:c.A2573G:p.K858R	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	0	794	580	148	0	876	0.355519	.	.	.	249509	Thrombophilia_due_to_activated_protein_C_resistance|not_provided|Congenital_factor_V_deficiency|not_specified	MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:C3661900|MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.009	.	0.2436	0.266773	0.2768	0.1782	0.4435	0.2189	0.2153	0.2598	0.2797	0.3462	0.26695	41271	154602	rs4524	0.2731	0.2732	0.2716	0.2747	0.4087	0.2724	0.2721	0.4038	0.4017	0.1804	0.4087	0.1760	0.2265	0.2171	0.2765	0.2718	0.2651	0.3467	0.2462	0.2463	0.2443	0.2481	0.3449	0.2441	0.2432	0.3341	0.3309	0.1831	0.1908	0.3418	0.1685	0.2342	0.2115	0.2381	0.2667	0.2614	0.3449	0.855	0.02705	T	0.847	0.03538	T	0.0	0.02946	B	0.0	0.01387	B	0.635169	0.10649	N	0.830320	1	0.08975	P	-1.355	0.00654	N	2.17	0.19020	T	0.21	0.04776	N	0.026	0.00527	-0.9096	0.46904	T	0.005	0.01615	T	9	0.00049877167	0.00011	T	.	.	.	0.009	0.00846	.	.	.	.	0.1337133431932104	0.13295	0.07127904727	0.07981	0.188595145941	0.00201	T	0.013326	0.11547	T	-0.869542	0.00001	T	-0.877993	0.00671	T	0.000714397847103574	0.00006	T	0.386661	0.09517	T	0.022049049	0.00842	0.030590214	0.01535	0.01725972	0.00258	0.02791734	0.00982	-3.171	0.12129	T	0.05318867320884815	0.01062	0.073	0.04477	B	.;.	.;.	-0.558016	0.01690	0.122	0.12338566367754079	0.00211	0.00494	0.02336	N	AEFBI	0.057701	0.10769	N	-1.69916646532579	0.00845	0.03654265	-1.64287359967973	0.01413	0.06388659	1.28884559717462E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.34	-1.7	0.07721	-0.613000	0.05705	-0.884000	0.07053	-1.357000	0.01185	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3402:0.1552:0.5046	5.162	0.14392	773	0.48803	.;.	.	.	.	.	rs4524	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	0.262336	0.303030	0.211957	0.318713	0.150000	0.275862	0.225610	0.295455	0.35	18683.9	45	chr1	169542517	.	T	C	18683.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=1.65;DP=1509;ExcessHet=1.4371;FS=1.107;InbreedingCoeff=-0.0989;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=-0.333;SOR=0.801	GT:AD:DP:GQ:PL	0/1:106,91:197:99:2361,0,2861	4	1	5	0
chr1	175403578	175403578	T	G	exonic	TNR	.	nonsynonymous SNV	TNR:NM_003285:exon4:c.A538C:p.N180H	.	415	1091	16	0	0	16	0.00727934	.	.	.	226705	Parkinson_disease|not_provided	MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600,Orphanet:319705|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.235	0.015143269266	0.0040	0.00219649	0.0043	0.0014	0.0017	0	0.0006	0.0049	0.0033	0.0099	0.0043208	668	154602	rs61731112	0.0055	0.0055	0.0053	0.0056	0.0103	0.0054	0.0053	0.0098	0.0095	0.0007	0.0020	0.0008	0	0.0006	0.0040	0.0059	0.0049	0.0103	0.0034	0.0034	0.0036	0.0033	0.0108	0.0032	0.0031	0.0085	0.0076	0.0010	0	0.0017	0.0009	0	0.0011	0	0.0056	0.0043	0.0108	0.059	0.37536	T	0.004	0.74150	D	0.943	0.53072	P	0.646	0.52296	P	0.000002	0.62929	D	0.099447	0.991967	0.41520	D	2.635	0.77114	M	-0.23	0.66652	T	-3.04	0.62863	D	0.45	0.53181	-0.3481	0.73608	T	0.333	0.70051	T	10	0.012104988	0.00261	T	0.015143	0.35698	T	0.235	0.53788	.	.	0.680615255321	0.67789	0.30089657972397504	0.30002	0.594975163302	0.54791	0.480174928904	0.36081	T	0.706665	0.91599	D	-0.35142	0.04638	T	-0.270886	0.47730	T	0.0187850564752614	0.00590	T	0.90061	0.65471	D	0.3260392	0.55144	0.29151744	0.55177	0.3260392	0.55144	0.29151744	0.55176	-6.494	0.50240	T	.	.	0.151	0.33342	B	.;.	.;.	4.181553	0.62951	24.5	0.99696345106303663	0.80316	0.99641	0.98258	D	AEFDBI	0.943134	0.94859	D	0.711461017713127	0.80383	7.282298	0.738660711939347	0.85306	8.541781	0.738967395217989	0.23180	0.553676	0.25195	0	0.563428	0.19063	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.02	6.02	0.97559	7.882000	0.85748	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.206	0.81949	874	0.30607	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.004076	0.002924	0.000000	0.017241	0.012195	0.026515	0.05	1505.43	35	chr1	175403578	.	T	G	1505.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.167;DP=411;ExcessHet=0;FS=1.879;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=-0.254;SOR=0.996	GT:AD:DP:GQ:PL	0/1:34,56:90:99:1517,0,915	9	0	1	0
chr1	179889309	179889309	G	A	splicing	TOR1AIP1	NM_001267578:exon3:c.554-1G>A	.	.	.	467	200	364	491	0	1346	0.770905	1.0000	0.918	YES	249563	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y|not_specified	MedGen:C3661900|MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5831	0.635383	0.6466	0.4951	0.7811	0.7603	0.5516	0.6317	0.6093	0.6884	0.63765	98582	154602	rs2245425	0.6269	0.6280	0.6247	0.6291	0.7625	0.6258	0.6254	0.7556	0.7528	0.4921	0.7625	0.6584	0.7531	0.5600	0.6729	0.6182	0.6333	0.6858	0.5973	0.5972	0.5976	0.5969	0.7571	0.5940	0.5927	0.7374	0.7293	0.4950	0.6308	0.6819	0.6633	0.7571	0.5585	0.6905	0.6227	0.6276	0.6884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.04199e-16	0.58761	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.762522	0.00014	T	-0.724267	0.04593	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.415017	0.18307	13.67	0.96167067373433235	0.28917	0.80939	0.40452	D	AEFGBI	.	.	.	0.771385091335884	0.84290	8.246399	0.516679057775212	0.69111	5.314058	0.999999995517267	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.060301	0.00762	0	0.109871	0.03346	0	0.960703	0.65649	5.26	5.26	0.73479	4.241000	0.58503	5.751000	0.49627	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.011000	0.09372	0.0:0.0:1.0:0.0	14.730	0.68990	416	0.81733	.;.	QSOX1|TDRD5|TOR1AIP1|CEP350|TOR1AIP1|RP11-545A16.3|TDRD5|TOR1AIP1|TDRD5|RP11-533E19.2|TDRD5|QSOX1	Artery_Tibial|Brain_Cerebellum|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood	TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|RP11-533E19.2|TOR1AIP1|TOR1AIP1|TOR1AIP1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Uterus|Vagina|Whole_Blood	rs2245425	Benign	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.55	12534.0	97	chr1	179889309	.	G	A	12534.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.448;DP=724;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.0101;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=19.37;ReadPosRankSum=1.19;SOR=0.658	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1013,0,943	2	3	5	0
chr1	183227547	183227547	A	G	exonic	LAMC2	.	nonsynonymous SNV	LAMC2:NM_005562:exon10:c.A1318G:p.I440V,LAMC2:NM_018891:exon10:c.A1318G:p.I440V	Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	0	1491	31	0	0	31	0.0102887	.	.	.	267281	Junctional_epidermolysis_bullosa|not_provided	MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.00705583072782	0.0011	0.000599042	0.0015	9.61e-05	0.0025	0	0	0.0020	0.0022	0.0008	0.0013842	214	154602	rs147889360	0.0011	0.0011	0.0010	0.0011	0.0277	0.0010	0.0010	0.0242	0.0229	0.0008	0.0023	0.0167	0	0	0.0277	0.0006	0.0023	0.0009	0.0014	0.0014	0.0012	0.0015	0.0027	0.0012	0.0012	0.0021	0.0019	0.0002	0	0.0027	0.0181	0	0	0.0306	0.0011	0.0033	0.0012	0.89	0.02575	T	0.37	0.16473	T	0.002	0.45051	B	0.007	0.42549	B	0.018984	0.27357	N	0.342667	1	0.08975	N	1.04	0.26193	L	2.49	0.16351	T	0.07	0.06138	N	0.251	0.29889	-1.0117	0.26385	T	0.027	0.11751	T	10	0.004930675	0.00106	T	0.007056	0.18704	T	0.032	0.07718	.	.	0.181679512989	0.17746	0.3558394956187867	0.35497	0.0928677804986	0.10486	0.367219299078	0.20432	T	0.045062	0.27007	T	-0.628756	0.00097	T	-0.682108	0.06855	T	0.0260152463091466	0.01408	T	0.572443	0.20452	T	0.017570067	0.00283	0.022053603	0.00238	0.020624548	0.00627	0.021753127	0.00217	-2.714	0.07421	T	0.13715153916806236	0.15064	0.067	0.02609	B	.;.	.;.	0.861831	0.12343	8.882	0.62781003598174046	0.07051	0.22980	0.21926	N	AEFGBCI	0.349449	0.44323	N	-0.759392715148493	0.14379	0.7158105	-0.756529567948807	0.15562	0.8190704	0.999908789422852	0.45458	0.706298	0.61202	0	0.491513	0.07743	0	0.675528	0.61593	0	0.613276	0.41899	0	.	.	5.57	0.531	0.16303	0.570000	0.23357	0.438000	0.18395	-0.076000	0.16278	0.000000	0.06391	0.433000	0.24865	0.963000	0.52385	0.559:0.2425:0.1985:0.0	5.653	0.16903	498	0.76166	.;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	1	0	0	0	0.018630	0.010101	0.024457	0.035088	0.100000	0.017241	0.000000	0.007576	0.05	1568.43	33	chr1	183227547	.	A	G	1568.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.238;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=1.49;SOR=0.655	GT:AD:DP:GQ:PL	0/1:55,71:126:99:1580,0,1250	9	0	1	0
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y,CFH:NM_001014975:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	207	250	453	612	0	1677	0.770326	.	.	YES	278205	Atypical_hemolytic-uremic_syndrome|Age_related_macular_degeneration_4|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1	MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.086	.	0.6243	0.733427	0.6721	0.6307	0.8458	0.9506	0.5582	0.6169	0.6589	0.7008	0.0001153	3	26028	rs1061170	0.6361	0.6361	0.6353	0.6369	0.9401	0.6350	0.6346	0.9321	0.9288	0.6297	0.8237	0.6536	0.9401	0.5593	0.6309	0.6163	0.6436	0.6942	0.6445	0.6446	0.6418	0.6473	0.9486	0.6411	0.6397	0.9264	0.9173	0.6288	0.5187	0.7377	0.6614	0.9486	0.5626	0.6541	0.6177	0.6641	0.7199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	.	.	.	-0.03	0.63077	T	0.01	0.06868	N	0.087	0.06454	-1.0069	0.27881	T	0.000	0.00011	T	7	4.2569295e-06	0.00003	T	.	.	.	0.086	0.25016	.	.	.	.	0.5769233046748007	0.57621	0.162329486446	0.18315	0.253577560186	0.04154	T	0.003274	0.02677	T	-0.761617	0.00015	T	-0.722967	0.04654	T	0.0225529419406931	0.00971	T	0.133787	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.;.;.	.;.;.	-3.389009	0.00004	0.001	0.22051245335339048	0.00869	0.00085	0.00571	N	AEFBI	0.283399	0.39651	N	-2.76930125675915	0.00003	0.0001621695	-2.87910541750741	0.00003	0.0001313686	0.998921497306925	0.37985	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.54	-9.09	0.00613	-8.331000	0.00028	-20.000000	0.00162	-4.685000	0.00022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4236:0.2638:0.0834:0.2293	2.071	0.03395	541	0.72942	.;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	CFHR1|CFHR3|CFHR1|CFHR3|CFHR1|CFHR1|CFHR1|CFHR1|CFHR3|CFHR1|CFHR1|CFHR3|CFHR3|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFH|CFHR3|CFHR1|CFH|CFHR1|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFHR3|CFHR3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid	CFH|CFH|CFH|CFH|CFH|CFHR1|CFH|CFH|CFHR1|CFH|CFH|CFH|CFH|CFHR1	Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Heart_Atrial_Appendage|Liver|Liver|Ovary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	rs1061170	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.631923	0.681818	0.582880	0.669591	0.500000	0.620690	0.606707	0.696970	0.6	22498.0	35	chr1	196690107	.	C	T	22498.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=-0.327;DP=1336;ExcessHet=2.8549;FS=0;InbreedingCoeff=-0.25;MLEAC=12;MLEAF=0.6;MQ=59.98;MQRankSum=0;QD=17.63;ReadPosRankSum=0.497;SOR=0.653	GT:AD:DP:GQ:PL	1/1:0,139:139:99:4536,417,0	1	3	6	0
chr1	196743447	196743447	T	C	intronic	CFH	.	.	.	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	2	810	709	1	0	711	0.305019	0	0.028	.	865078	Age_related_macular_degeneration_4|Basal_laminar_drusen|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|not_specified|Atypical_hemolytic-uremic_syndrome|not_provided	MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:CN169374|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2585	0.2335	0.3236	0.3530	0.2551	0.2478	0.2636	0.2241	0.0001035	16	154602	rs513699	0.0899	0.2501	0.0919	0.0878	0.1935	0.0893	0.0891	0.1884	0.1864	0.0730	0.1344	0.0955	0.1935	0.1086	0.0549	0.0875	0.0860	0.0598	0.0293	0.1436	0.0285	0.0300	0.0485	0.0284	0.0280	0.0448	0.0434	0.0296	0.0038	0.0485	0.0263	0.0478	0.0280	0.0084	0.0251	0.0321	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	13845.0	226	chr1	196743447	.	T	C	13845.0	.	AC=7;AF=0.35;AN=20;BaseQRankSum=1.47;DP=1790;ExcessHet=7.0302;FS=6.558;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=56.89;MQRankSum=-14.7;QD=8.24;ReadPosRankSum=-2.07;SOR=1.322	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,102:266:99:0|1:196743447_T_C:3705,0,6505:196743447	3	0	7	0
chr1	203223528	203223528	G	A	exonic	CHIT1	.	synonymous SNV	CHIT1:NM_001256125:exon4:c.C390T:p.A130A,CHIT1:NM_003465:exon5:c.C447T:p.A149A	.	417	1090	15	0	0	15	0.00683371	.	.	.	549515	Chitotriosidase_deficiency|not_provided	MedGen:C3279902,OMIM:614122|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0012	0.000199681	0.0010	0.0003	0.0026	0	0	0.0010	0.0033	0.0008	0.0009638	149	154602	rs139891908	0.0007	0.0007	0.0007	0.0007	0.0059	0.0006	0.0006	0.0043	0.0038	0.0003	0.0029	0.0002	5.038e-05	0	0.0059	0.0006	0.0012	0.0013	0.0010	0.0010	0.0009	0.0011	0.0038	0.0008	0.0008	0.0030	0.0027	0.0002	0	0.0038	0	0	0	0.0068	0.0010	0.0047	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.004545	0.005051	0.006793	0.002924	0.000000	0.000000	0.003067	0.003788	0.1	1892.14	35	chr1	203223528	.	G	A	1892.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.65;DP=436;ExcessHet=0.2348;FS=1.34;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=2.6;SOR=0.581	GT:AD:DP:GQ:PL	0/1:34,36:70:99:975,0,703	8	0	2	0
chr1	212897349	212897349	-	ACAC	UTR3	FLVCR1	NM_014053:c.*2059_*2060insACAC	.	.	Ataxia, posterior column, with retinitis pigmentosa, Autosomal recessive	1218	248	11	45	0	101	0.169179	.	.	.	280300	Posterior_column_ataxia-retinitis_pigmentosa_syndrome	MONDO:MONDO:0012177,MedGen:C1836916,OMIM:609033,Orphanet:88628	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.255591	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs139242973	0.0139	0.0084	0	0.0167	0.0152	0	0	.	.	0	.	.	.	.	.	0.0152	0	.	0.2052	0.2032	0.2026	0.2080	0.3738	0.2033	0.2025	0.3656	0.3622	0.1629	0.3634	0.3738	0.3073	0.3457	0.1403	0.2345	0.1773	0.2655	0.2648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	250.29	4	chr1	212897349	.	T	TACAC	250.29	.	AC=4;AF=0.25;AN=16;DP=19;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.25;MQ=60;QD=29.73;SOR=1.329	GT:AD:DP:GQ:PL	1/1:0,3:3:9:135,9,0	6	2	0	2
chr1	218405343	218405343	-	TTGTTG	intronic	TGFB2	.	.	.	Loeys-Dietz syndrome 4, Autosomal dominant	1	191	2	1	31	35	0.0103627	.	.	.	228353	not_specified|not_provided|Loeys-Dietz_syndrome|Loeys-Dietz_syndrome_4	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030|MONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0472	.	0.0836	0.0783	0.0990	0.1545	0.0769	0.0726	0.0925	0.0859	0.0001153	3	26028	rs10482769	0.0777	0.0728	0.0769	0.0784	0.1591	0.0773	0.0771	0.1557	0.1543	0.0825	0.1058	0.0828	0.1591	0.0759	0.1057	0.0716	0.0835	0.0963	0.0762	0.0768	0.0740	0.0785	0.1503	0.0750	0.0745	0.1415	0.1380	0.0758	0.0176	0.0912	0.0780	0.1503	0.0778	0.1207	0.0673	0.0856	0.0789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2410.41	34	chr1	218405343	.	T	TTTGTTG	2410.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.137;DP=492;ExcessHet=0.7463;FS=2.793;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=1.3;SOR=0.417	GT:AD:DP:GQ:PL	0/1:26,25:51:99:942,0,1006	7	0	3	0
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q	.	440	2	22	1058	0	2138	0.998133	.	.	YES	1704217	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	.	0.9588	0.979832	0.9646	0.9919	0.9793	0.9999	0.9525	0.9481	0.9635	0.9907	0.950441	146940	154602	rs708776	0.9491	0.9488	0.9480	0.9501	0.9999	0.9477	0.9472	0.9917	0.9883	0.9918	0.9738	0.9832	0.9999	0.9563	0.9941	0.9399	0.9566	0.9912	0.9610	0.9609	0.9589	0.9632	1.0000	0.9568	0.9551	0.9808	0.9775	0.9888	0.9791	0.9590	0.9856	1.0000	0.9591	0.9830	0.9379	0.9579	0.9934	0.583	0.05936	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.483806	0.12135	N	0.766226	1	0.08975	P	-0.895	0.01383	N	1.98	0.22881	T	0.53	0.02808	N	0.025	0.01825	-1.0115	0.26447	T	0.000	0.00011	T	9	6.0402823e-07	0.00003	T	.	.	.	0.010	0.01040	.	.	.	.	0.05634089622938886	0.05575	0.181346590271	0.20389	0.286521404982	0.08417	T	0.020834	0.16329	T	-0.744246	0.00019	T	-0.797813	0.01958	T	0.0023018944148633	0.00024	T	0.138286	0.01102	T	0.040331684	0.05739	0.040422957	0.04366	0.040331684	0.05738	0.040422957	0.04365	-3.679	0.19008	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	0.350619	0.07236	3.835	0.45452285692317235	0.03568	0.01207	0.04296	N	AEFDBCI	0.022870	0.01199	N	-1.52879093395045	0.01663	0.07273724	-1.51037584413497	0.02264	0.103852	0.999997929485498	0.74766	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	5.54	-4.95	0.02821	-0.492000	0.06547	-0.150000	0.11428	-0.165000	0.11486	0.003000	0.16062	0.000000	0.08366	0.771000	0.36558	0.1705:0.3482:0.2975:0.1839	2.079	0.03410	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	PSEN2|PSEN2	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs708776	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	.	.	.	.	.	.	.	.	1.0	37050.2	98	chr1	226735804	.	G	T	37050.2	.	AC=20;AF=1;AN=20;DP=1183;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=20;MLEAF=1;MQ=60;QD=32.05;SOR=0.725	GT:AD:DP:GQ:PL	1/1:0,118:118:99:3915,354,0	0	10	0	0
chr1	226736237	226736237	A	C	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.T1222G:p.S408A	.	424	234	529	335	0	1199	0.719256	.	.	YES	1704219	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	0.5142	0.610423	0.5305	0.5845	0.7358	0.6685	0.4347	0.4720	0.5254	0.5623	0.50903	78697	154602	rs6667260	0.4825	0.4819	0.4809	0.4841	0.7102	0.4815	0.4811	0.7027	0.6996	0.5746	0.7102	0.5629	0.6813	0.4308	0.6177	0.4599	0.5103	0.5424	0.5227	0.5226	0.5220	0.5234	0.6711	0.5197	0.5184	0.6525	0.6449	0.5810	0.4967	0.6248	0.5700	0.6711	0.4299	0.6190	0.4617	0.5449	0.5568	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.982952	0.08082	N	0.990786	1	0.08975	P	-1.445	0.00556	N	2.07	0.20523	T	0.05	0.06369	N	0.012	0.00279	-0.9439	0.41992	T	0.000	0.00011	T	9	3.5098994e-06	0.00003	T	.	.	.	0.047	0.12962	.	.	.	.	0.05903511649592833	0.05844	0.161341295611	0.18212	0.352891504765	0.18347	T	0.023569	0.17967	T	-0.842882	0.00003	T	-0.839698	0.01103	T	0.0107150276910547	0.00151	T	0.0740926	0.00542	T	0.03752211	0.04827	0.026574247	0.00754	0.03752211	0.04827	0.026574247	0.00754	-4.077	0.24950	T	.	.	0.064	0.01762	B	.;.;.	.;.;.	-0.032082	0.04066	0.946	0.19618645798258003	0.00670	0.00108	0.00689	N	AEFBCI	0.019005	0.00622	N	-1.50554167816208	0.01813	0.07947133	-1.45024527399043	0.02768	0.1279108	0.999628074989162	0.41093	0.627647	0.40530	0	0.672317	0.65289	0	0.64067	0.45733	0	0.636168	0.56350	0	.	.	4.1	1.01	0.19044	-0.836000	0.04489	-0.357000	0.09702	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.324:0.3961:0.0:0.28	3.041	0.05767	845	0.36510	.;.;.	PSEN2|COQ8A|PSEN2|PSEN2|ITPKB|COQ8A	Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Whole_Blood|Whole_Blood	COQ8A|PSEN2	Adipose_Subcutaneous|Lung	rs6667260	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	0.625378	0.616162	0.653533	0.640351	0.700000	0.672414	0.628049	0.496212	0.6	10458.0	68	chr1	226736237	.	A	C	10458.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=1.72;DP=639;ExcessHet=2.8549;FS=1.83;InbreedingCoeff=-0.25;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=19.37;ReadPosRankSum=-0.399;SOR=0.875	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2607,219,0	1	3	6	0
chr1	226737175	226737183	CTGCCGCTG	-	exonic	ITPKB	.	nonframeshift deletion	ITPKB:NM_002221:exon2:c.276_284del:p.G94_S96del	.	422	529	453	118	0	689	0.39439	.	.	.	1704216	not_specified|Myeloproliferative_neoplasm,_unclassifiable	MedGen:CN169374|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2063	0.281949	0.2860	0.2580	0.2922	0.2649	0.2750	0.2861	0.3190	0.3021	0.0001153	3	26028	rs147889095	0.2812	0.2802	0.2803	0.2821	0.3168	0.2805	0.2802	0.3045	0.2996	0.2472	0.2922	0.2918	0.2716	0.2734	0.3168	0.2803	0.2944	0.2936	0.2774	0.2784	0.2782	0.2765	0.3020	0.2752	0.2742	0.2947	0.2918	0.2558	0.3792	0.3020	0.2989	0.2778	0.2744	0.2789	0.2810	0.2973	0.2968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	5660.87	51	chr1	226737174	.	ACTGCCGCTG	A	5660.87	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.762;DP=463;ExcessHet=0.0952;FS=13.074;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=27.09;ReadPosRankSum=0.511;SOR=1.518	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1527,103,0	5	2	3	0
chr1	235380162	235380163	TG	-	intronic	TBCE	.	.	.	Encephalopathy, progressive, with amyotrophy and optic atrophy, Autosomal recessive;Hypoparathyroidism-retardation-dysmorphism syndrome, Autosomal recessive;Kenny-Caffey syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	281274	not_provided|Hypoparathyroidism-retardation-dysmorphism_syndrome	MedGen:C3661900|MONDO:MONDO:0009426,MedGen:C1855840,OMIM:241410,Orphanet:2323	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020747	54	26028	rs1300770843	0.0386	0.0629	0.0363	0.0409	0.0583	0.0383	0.0382	0.0569	0.0563	0.0108	0.0373	0.0430	0.0445	0.0451	0.0423	0.0366	0.0427	0.0583	0.1000	0.1097	0.1014	0.0984	0.1347	0.0986	0.0980	0.1310	0.1300	0.0362	0.0719	0.1136	0.1412	0.0785	0.1000	0.0949	0.1334	0.0830	0.1347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	5361.07	16	chr1	235380161	.	TTG	T	5361.07	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.589;DP=530;ExcessHet=0.7463;FS=9.721;InbreedingCoeff=-0.1751;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=35.15;ReadPosRankSum=-0.186;SOR=2.326	GT:AD:DP:GQ:PL	0/1:1,4:16:80:517,421,430	7	1	2	0
chr1	236897646	236897646	T	-	UTR3	MTR	NM_001291939:c.*2delT;NM_001291940:c.*2delT;NM_000254:c.*2delT	.	.	Homocystinuria-megaloblastic anemia, cblG complementation type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	280140	not_provided|Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblG	MedGen:C3661900|MedGen:CN043592|MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4672	0.4552	0.4682	0.4587	0.4842	0.4676	0.4685	0.4694	0.0002305	6	26028	rs1465411776	0.3806	0.3887	0.3757	0.3855	0.4140	0.3796	0.3792	0.4099	0.4083	0.3737	0.4057	0.3960	0.4064	0.4060	0.3404	0.3749	0.3825	0.4140	0.1799	0.1808	0.1804	0.1794	0.1962	0.1780	0.1773	0.1924	0.1908	0.1961	0.1859	0.1366	0.1658	0.0825	0.1872	0.1187	0.1867	0.1519	0.1962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	985.18	62	chr1	236897645	.	CT	C	985.18	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.619;DP=749;ExcessHet=15.1594;FS=1.327;InbreedingCoeff=-0.7289;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.07;ReadPosRankSum=0.648;SOR=0.797	GT:AD:DP:GQ:PL	0/1:61,10:78:23:23,0,1361	1	0	9	0
chr1	237833281	237833281	-	A	UTR3	RYR2	NM_001035:c.*634_*635insA	.	.	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	1408	66	5	15	28	63	0.209581	.	.	.	280387	not_provided|Catecholaminergic_polymorphic_ventricular_tachycardia|Arrhythmogenic_right_ventricular_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs377407067	0.2755	0.0041	0.2917	0.2703	.	0.1945	0.1673	.	.	.	.	.	.	0.2812	.	.	0	.	0.4582	0.4444	0.4668	0.4482	0.5296	0.4549	0.4535	0.5246	0.5225	0.3777	0.5124	0.3661	0.6708	0.0836	0.4726	0.6667	0.5296	0.4907	0.3968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	1518.8	17	chr1	237833281	.	G	GA	1518.8	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.529;DP=206;ExcessHet=8.8523;FS=4.059;InbreedingCoeff=-0.5178;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.56;SOR=1.203	GT:AD:DP:GQ:PL	0/1:10,9:24:81:218,0,182	1	0	9	0
chr1	241500602	241500602	-	GAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	281822	Hereditary_cancer-predisposing_syndrome|Fumarase_deficiency|Hereditary_leiomyomatosis_and_renal_cell_cancer|not_specified|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197364	5137	26028	rs144131869	0.2390	0.2461	0.2382	0.2398	0.2745	0.2383	0.2380	0.2714	0.2702	0.1455	0.2328	0.2278	0.1589	0.2024	0.2171	0.2445	0.2281	0.2745	0.2551	0.2521	0.2543	0.2559	0.3681	0.2528	0.2519	0.3526	0.3463	0.1524	0.2864	0.3169	0.2763	0.1697	0.2757	0.2852	0.2931	0.2723	0.3681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4847.39	14	chr1	241500602	.	T	TGAGA	4847.39	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.178;DP=402;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=59.93;MQRankSum=0;QD=27.7;ReadPosRankSum=-0.227;SOR=0.678	GT:AD:DP:GQ:PL	0/1:5,11:16:99:425,0,167	6	0	4	0
chr2	21044060	21044060	G	C	UTR5	APOB	NM_000384:c.-115C>G	.	.	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	348	1160	9	5	0	19	0.00812313	.	.	.	260652	Familial_hypercholesterolemia|Hypercholesterolemia,_familial,_1|Hypercholesterolemia,_autosomal_dominant,_type_B	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0171725	.	.	.	.	.	.	.	.	0.0020698	320	154602	rs1800480	0.0099	0.0088	0.0105	0.0093	0.0392	0.0096	0.0094	0.0351	0.0335	0.0392	0.0065	0.0004	0.0002	0.0046	0.0109	0.0105	0.0129	0.0091	0.0177	0.0177	0.0190	0.0164	0.0364	0.0172	0.0169	0.0348	0.0342	0.0364	0	0.0141	0	0.0004	0.0027	0.0034	0.0125	0.0165	0.0106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	490.43	27	chr2	21044060	.	G	C	490.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=251;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=2.2;SOR=0.685	GT:AD:DP:GQ:PL	0/1:19,21:40:99:502,0,395	9	0	1	0
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I	Cystinuria, Autosomal recessive, Autosomal dominant	1	171	630	720	0	2070	0.858209	.	.	YES	286486	not_provided|Cystinuria	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.154	.	0.5449	0.460863	0.5960	0.2701	0.4998	0.3221	0.5958	0.6811	0.6013	0.6676	0.0001153	3	26028	rs698761	0.6599	0.6598	0.6581	0.6617	0.6922	0.6588	0.6583	0.6909	0.6904	0.2617	0.5192	0.6836	0.3574	0.5978	0.6804	0.6922	0.6241	0.6645	0.5342	0.5341	0.5388	0.5294	0.6780	0.5311	0.5299	0.6728	0.6707	0.2722	0.7697	0.5563	0.6862	0.3140	0.5823	0.6327	0.6780	0.5629	0.6495	0.337	0.13306	T	0.352	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.120443	0.19034	N	0.561087	1	0.08975	P	0.77	0.19370	N	-5.33	0.98998	D	-0.38	0.14588	N	0.042	0.01577	-0.9028	0.47694	T	0.000	0.00011	T	9	3.6894764e-06	0.00003	T	.	.	.	0.154	0.40340	0.151	0.05441	.	.	0.49672446305566087	0.49593	0.00618125622596	0.00540	0.297892659903	0.10088	T	0.176151	0.52600	T	-0.514041	0.00476	T	-0.367341	0.37200	T	0.00255737995911959	0.00027	T	0.417558	0.11011	T	0.097282335	0.22928	0.0528911	0.08804	0.09387819	0.22060	0.044934988	0.05931	-5.288	0.41765	T	0.11960640390682445	0.11161	0.166	0.37858	B	.;.;.	.;.;.	0.347116	0.07205	3.796	0.66076431619722875	0.07954	0.23409	0.22066	N	AEFBHCI	0.149797	0.27396	N	-1.23159964899708	0.04548	0.2054851	-1.24033372092097	0.05276	0.2509822	0.0036214405344024	0.10207	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	-1.37	0.08582	-0.144000	0.10263	0.229000	0.16167	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.272000	0.23818	0.3431:0.3168:0.233:0.1071	2.100	0.03455	845	0.36510	.;.;.	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PPM1B	Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs698761	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	0.646632	0.560606	0.637228	0.608392	0.700000	0.698276	0.698171	0.674242	0.75	27594.1	127	chr2	44320435	.	G	A	27594.1	.	AC=15;AF=0.75;AN=20;BaseQRankSum=-0.136;DP=1195;ExcessHet=0.2065;FS=0.684;InbreedingCoeff=0.2;MLEAC=15;MLEAF=0.75;MQ=59.98;MQRankSum=0;QD=24.77;ReadPosRankSum=-0.074;SOR=0.818	GT:AD:DP:GQ:PL	1/1:0,137:137:99:4374,411,0	1	6	3	0
chr2	47905551	47905551	-	GCT	exonic	FBXO11	.	nonframeshift insertion	FBXO11:NM_001190274:exon1:c.169_170insAGC:p.Q56_P57insQ	.	.	.	.	.	.	.	.	.	.	.	963527	Intellectual_disability|FBXO11-related_disorder|not_provided|Inborn_genetic_diseases	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0137	0	0	0	0	0.0109	0	0.0161	0.0023052	60	26028	rs757840201	0.0104	0.0087	0.0105	0.0102	0.0110	0.0102	0.0102	0.0108	0.0107	0.0064	0.0048	0.0206	0.0019	0.0031	0.0059	0.0110	0.0107	0.0029	0.0073	0.0072	0.0078	0.0067	0.0095	0.0069	0.0068	0.0089	0.0086	0.0058	0.0155	0.0036	0.0238	0.0027	0.0018	0	0.0095	0.0058	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	684.39	28	chr2	47905551	.	G	GGCT	684.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.782;DP=246;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=25.35;ReadPosRankSum=0.425;SOR=0.551	GT:AD:DP:GQ:PL	0/1:8,19:27:99:696,0,279	9	0	1	0
chr2	69326244	69326244	A	-	intronic	GFPT1	.	.	.	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	290634	Congenital_myasthenic_syndrome_12|not_provided|not_specified|Congenital_Myasthenic_Syndrome,_Recessive	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590|MedGen:C3661900|MedGen:CN169374|MedGen:CN239337	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.5003	0.5725	0.4843	0.3357	0.5331	0.5252	0.4928	0.4503	0.0001537	4	26028	rs201330278	0.4721	0.4795	0.4728	0.4714	0.5446	0.4710	0.4706	0.5371	0.5340	0.5446	0.4487	0.5008	0.2970	0.4755	0.5037	0.4796	0.4730	0.4329	0.6332	0.6282	0.6394	0.6266	0.7813	0.6298	0.6283	0.7741	0.7711	0.7813	0.6810	0.5747	0.6455	0.3023	0.5629	0.6418	0.5950	0.6144	0.5344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3970.55	55	chr2	69326243	.	GA	G	3970.55	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.38;DP=430;ExcessHet=2.4664;FS=3.425;InbreedingCoeff=-0.1243;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.264;SOR=0.518	GT:AD:DP:GQ:PL	0/1:26,3:33:2:2,0,610	2	2	6	0
chr2	113062899	113062899	T	C	UTR3	IL36RN	NM_173170:c.*222T>C;NM_012275:c.*222T>C	.	.	Psoriasis 14, pustular, Autosomal recessive	910	207	66	339	0	744	0.642487	.	.	.	283604	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	0.108433	16764	154602	rs2515401	0.6460	0.6350	0.6359	0.6549	0.7967	0.6440	0.6431	0.7899	0.7872	0.7121	0.6981	0.6741	0.7292	0.6065	0.7411	0.6034	0.6506	0.7967	0.6525	0.6525	0.6494	0.6557	0.8018	0.6490	0.6476	0.7807	0.7721	0.7072	0.7566	0.6635	0.6876	0.7070	0.6292	0.7381	0.6008	0.6886	0.8018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.8571	751.73	5	chr2	113062899	.	T	C	751.73	.	AC=12;AF=0.857;AN=14;BaseQRankSum=-0.385;DP=30;ExcessHet=0.3476;FS=0;MLEAC=14;MLEAF=1;MQ=60;MQRankSum=0;QD=26.85;ReadPosRankSum=0;SOR=0.638	GT:AD:DP:GQ:PL	0/1:1,2:3:32:40,0,32	0	5	2	3
chr2	127070022	127070022	C	T	exonic	BIN1	.	synonymous SNV	BIN1:NM_001320632:exon5:c.G384A:p.T128T,BIN1:NM_001320633:exon5:c.G384A:p.T128T,BIN1:NM_001320634:exon5:c.G312A:p.T104T,BIN1:NM_001320640:exon5:c.G384A:p.T128T,BIN1:NM_001320641:exon5:c.G384A:p.T128T,BIN1:NM_001320642:exon5:c.G303A:p.T101T,BIN1:NM_004305:exon5:c.G384A:p.T128T,BIN1:NM_139343:exon5:c.G384A:p.T128T,BIN1:NM_139344:exon5:c.G384A:p.T128T,BIN1:NM_139345:exon5:c.G384A:p.T128T,BIN1:NM_139346:exon5:c.G384A:p.T128T,BIN1:NM_139347:exon5:c.G384A:p.T128T,BIN1:NM_139348:exon5:c.G384A:p.T128T,BIN1:NM_139349:exon5:c.G384A:p.T128T,BIN1:NM_139350:exon5:c.G384A:p.T128T,BIN1:NM_139351:exon5:c.G384A:p.T128T	Myopathy, centronuclear, autosomal recessive, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	284009	Myopathy,_centronuclear,_2|not_specified	MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200,Orphanet:169186|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0018	0.00359425	0.0007	0.0072	0.0002	0.0009	0	3.017e-05	0	6.072e-05	0.000718	111	154602	rs61748158	0.0002	0.0002	0.0003	0.0002	0.0065	0.0002	0.0002	0.0057	0.0055	0.0065	0.0004	0	0.0015	0	0.0003	1.979e-05	0.0006	2.319e-05	0.0019	0.0019	0.0021	0.0017	0.0067	0.0017	0.0017	0.0061	0.0058	0.0067	0	0.0004	0	0.0010	0	0	1.47e-05	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	533.43	33	chr2	127070022	.	C	T	533.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.059;DP=369;ExcessHet=0;FS=0.958;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=3.07;SOR=0.52	GT:AD:DP:GQ:PL	0/1:40,26:66:99:545,0,943	9	0	1	0
chr2	135113199	135113199	C	T	exonic	RAB3GAP1	.	synonymous SNV	RAB3GAP1:NM_001172435:exon6:c.C411T:p.D137D,RAB3GAP1:NM_012233:exon6:c.C411T:p.D137D	Warburg micro syndrome 1, Autosomal recessive	0	1491	30	1	0	32	0.0106171	.	.	.	284089	Warburg_micro_syndrome_1|not_specified|not_provided	MONDO:MONDO:0010822,MedGen:C1838625,OMIM:600118,Orphanet:2510|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0005	0.000199681	0.0009	0.0002	0.0007	0	0	0.0013	0.0011	0.0006	0.0007438	115	154602	rs140929274	0.0006	0.0006	0.0006	0.0007	0.0160	0.0006	0.0006	0.0133	0.0123	0.0004	0.0007	0.0022	0	3.744e-05	0.0160	0.0005	0.0011	0.0007	0.0005	0.0005	0.0004	0.0006	0.0006	0.0004	0.0004	0.0005	0.0004	0.0003	0	0.0005	0.0017	0	0	0.0068	0.0006	0.0038	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.011100	0.005051	0.014946	0.017544	0.000000	0.017241	0.003067	0.003788	0.05	1209.43	40	chr2	135113199	.	C	T	1209.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.011;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-1.349;SOR=0.687	GT:AD:DP:GQ:PL	0/1:37,52:89:99:1221,0,764	9	0	1	0
chr2	151546001	151546001	-	A	intronic	NEB	.	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	282777	not_specified|Nemaline_myopathy_2|Nemaline_Myopathy,_Recessive	MedGen:CN169374|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:CN239479	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2521	0.1709	0.2716	0.2475	0.2950	0.2447	0.2589	0.2849	0.0001921	5	26028	rs762865768	0.2760	0.2628	0.2762	0.2759	0.3185	0.2751	0.2747	0.3132	0.3111	0.2337	0.3066	0.2747	0.3185	0.2903	0.2933	0.2740	0.2796	0.2642	0.2606	0.2606	0.2567	0.2647	0.3671	0.2583	0.2574	0.3587	0.3552	0.1876	0.2989	0.3671	0.2638	0.3220	0.2881	0.2862	0.2731	0.2600	0.2294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1988.77	59	chr2	151546001	.	T	TA	1988.77	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.321;DP=543;ExcessHet=15.1594;FS=7.134;InbreedingCoeff=-0.8944;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=7.68;ReadPosRankSum=0.533;SOR=0.421	GT:AD:DP:GQ:PL	0/1:14,13:34:99:158,0,279	0	1	9	0
chr2	151724301	151724301	C	G	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon8:c.G571C:p.E191Q,NEB:NM_001164508:exon8:c.G571C:p.E191Q,NEB:NM_001271208:exon8:c.G571C:p.E191Q,NEB:NM_004543:exon8:c.G571C:p.E191Q	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1487	35	0	0	35	0.0116318	.	.	.	135194	not_specified|Nemaline_myopathy_2|not_provided	MedGen:CN169374|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.324	.	0.0189	0.0071885	0.0181	0.0046	0.0052	0.0004	0.0216	0.0255	0.0174	0.0121	0.0167204	2585	154602	rs35686968	0.0239	0.0239	0.0242	0.0236	0.0280	0.0237	0.0236	0.0277	0.0276	0.0034	0.0059	0.0039	0.0001	0.0213	0.0042	0.0280	0.0204	0.0105	0.0160	0.0160	0.0165	0.0154	0.0259	0.0154	0.0152	0.0249	0.0244	0.0049	0.0011	0.0111	0.0029	0.0002	0.0210	0.0034	0.0259	0.0076	0.0098	0.192	0.32610	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.914872	0.44650	D	1.555	0.39373	L	0.54	0.54911	T	-1.18	0.33798	N	0.719	0.72120	-0.8127	0.54387	T	0.152	0.48032	T	10	0.010740876	0.00238	T	.	.	.	0.324	0.64624	.	.	.	.	0.5551821738475772	0.55445	0.33640873086	0.35639	0.745914101601	0.73843	T	0.031006	0.43609	T	-0.415519	0.01828	T	-0.349368	0.39277	T	0.0128658793219165	0.00220	T	0.942906	0.82243	D	0.34443244	0.56630	0.35551873	0.61078	0.4507421	0.64088	0.35551873	0.61077	-5.06	0.37484	T	.	.	0.578	0.67981	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.235560	0.64170	24.7	0.99815259023384273	0.89885	0.98055	0.79218	D	AEFGBI	0.872417	0.79427	D	0.78169272054343	0.84949	8.432505	0.798199290233234	0.89669	10.07073	1.0	0.98316	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	6.02	6.02	0.97559	7.494000	0.80344	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.132	0.98002	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	rs35686968	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	0.005035	0.000000	0.000000	0.002924	0.000000	0.017241	0.009146	0.018939	0.05	592.43	34	chr2	151724301	.	C	G	592.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.32;DP=382;ExcessHet=0;FS=3.743;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-1.065;SOR=1.243	GT:AD:DP:GQ:PL	0/1:38,23:61:99:604,0,875	9	0	1	0
chr2	162268086	162268086	C	T	splicing	IFIH1	NM_022168:exon14:c.2807+1G>A	.	.	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	425	1072	24	1	0	26	0.0119816	1.0000	0.938	YES	516567	Immunodeficiency_95|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0054	0.0061901	0.0071	0.0014	0.0039	0.0026	0.0017	0.0083	0.0093	0.0133	0.0068563	1060	154602	rs35732034	0.0089	0.0089	0.0087	0.0090	0.0206	0.0087	0.0087	0.0194	0.0189	0.0013	0.0031	0.0105	0.0206	0.0020	0.0071	0.0090	0.0079	0.0118	0.0054	0.0054	0.0059	0.0049	0.0101	0.0051	0.0050	0.0079	0.0072	0.0015	0	0.0035	0.0084	0.0079	0.0018	0.0068	0.0080	0.0085	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123313	0.66703	D	0.414742	0.92577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.421348	0.90701	31	0.99538050422870605	0.70336	0.99640	0.98249	D	AEFBI	.	.	.	1.11613391741329	0.98421	18.23353	0.94565821059137	0.97272	15.85643	0.999999999312529	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.063197	0.01477	0	0.092715	0.02821	0	0.978623	0.82860	4.74	4.74	0.59717	7.284000	0.78011	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.077	0.89359	405	0.82444	.;.;.	.	.	.	.	.	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	2238.14	35	chr2	162268086	.	C	T	2238.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.375;DP=454;ExcessHet=0.2348;FS=0.615;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.77;SOR=0.619	GT:AD:DP:GQ:PL	0/1:35,41:76:99:1120,0,957	8	0	2	0
chr2	169289151	169289151	C	T	intronic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	0	1386	130	6	0	142	0.0487303	0	0.008	.	134991	not_specified|not_provided|Donnai-Barrow_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0058	0.0117812	0.0116	0.0015	0.0086	0.0001	0.0021	0.0088	0.0166	0.0410	0.0107955	1669	154602	rs144147038	0.0097	0.0097	0.0085	0.0109	0.0572	0.0096	0.0095	0.0521	0.0502	0.0016	0.0078	0.0287	2.52e-05	0.0022	0.0572	0.0076	0.0120	0.0401	0.0073	0.0073	0.0066	0.0080	0.0360	0.0069	0.0068	0.0316	0.0299	0.0015	0	0.0076	0.0311	0.0002	0.0030	0.0544	0.0085	0.0099	0.0360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1021.43	36	chr2	169289151	.	C	T	1021.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.769;DP=398;ExcessHet=0;FS=2.943;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=1.36;SOR=0.441	GT:AD:DP:GQ:PL	0/1:37,44:81:99:1033,0,834	9	0	1	0
chr2	169294718	169294720	AAA	-	intronic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	283582	not_provided|not_specified|Donnai-Barrow_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0909	0.0720	0.0505	0.0735	0.1765	0.0822	0.1111	0.1048	0.0002305	6	26028	rs759076090	0.1851	0.1738	0.1848	0.1854	0.2132	0.1842	0.1839	0.2089	0.2071	0.1690	0.1813	0.1909	0.2132	0.1973	0.1874	0.1829	0.1955	0.1769	0.0022	0.0046	0.0019	0.0024	0.0064	0.0019	0.0018	0.0042	0.0035	0.0012	0	0.0010	0.0060	0.0022	0.0020	0.0046	0.0024	0.0029	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	7058.4	58	chr2	169294717	.	TAAA	T	7058.4	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.51;DP=718;ExcessHet=0;FS=3.225;InbreedingCoeff=nan;MLEAC=6;MLEAF=0.3;MQ=59.98;MQRankSum=0;QD=28.58;ReadPosRankSum=1.4;SOR=1.362	GT:AD:DP:GQ:PL	1/0:0,15:34:99:883,184,137	4	0	6	0
chr2	171448665	171448665	-	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	295	1061	129	35	2	201	0.0857389	.	.	.	1153880	not_specified|not_provided|Woodhouse-Sakati_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1900	0.1440	0.2965	0.1542	0.1838	0.1738	0.1942	0.2313	0.0121408	316	26028	rs139655160	0.1523	0.1653	0.1512	0.1534	0.2241	0.1517	0.1515	0.2196	0.2178	0.1225	0.2241	0.1819	0.1751	0.1501	0.1619	0.1464	0.1560	0.1975	0.1961	0.1983	0.1956	0.1968	0.2795	0.1943	0.1935	0.2670	0.2620	0.1627	0.1681	0.2502	0.2551	0.1836	0.2003	0.2363	0.1955	0.2145	0.2795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2843.94	36	chr2	171448665	.	C	CT	2843.94	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.027;DP=350;ExcessHet=4.5998;FS=0.562;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=0.437;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,10:39:99:.:.:324,0,1160:.	4	0	6	0
chr2	171448667	171448667	C	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	305	1005	21	3	188	215	0.0132548	.	.	.	189063	not_specified|not_provided|Woodhouse-Sakati_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.207069	0.2822	0.2104	0.4319	0.2364	0.2448	0.2580	0.2773	0.3437	0.0139778	2161	154602	rs192861143	0.2297	0.1974	0.2282	0.2312	0.3467	0.2289	0.2286	0.3409	0.3385	0.1856	0.3467	0.2716	0.2622	0.2223	0.2208	0.2204	0.2344	0.2999	0.2054	0.2045	0.2034	0.2075	0.2886	0.2034	0.2026	0.2757	0.2706	0.1695	0.1726	0.2733	0.2593	0.1987	0.2244	0.2396	0.2008	0.2248	0.2886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2843.98	36	chr2	171448667	.	C	T	2843.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.487;DP=357;ExcessHet=4.5998;FS=0.553;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=0.583;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,10:39:99:.:.:324,0,1076:.	4	0	6	0
chr2	171458135	171458135	T	-	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	50	730	457	105	180	847	0.313587	.	.	.	1258517	not_provided|Woodhouse-Sakati_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.227835	.	.	.	.	.	.	.	.	0.0401491	1045	26028	rs58636477	0.2283	0.2354	0.2253	0.2312	0.3807	0.2275	0.2272	0.3754	0.3733	0.2227	0.3807	0.2915	0.2775	0.2308	0.2404	0.2103	0.2387	0.3067	0.2115	0.2106	0.2096	0.2136	0.2856	0.2096	0.2088	0.2729	0.2678	0.1932	0.1718	0.2748	0.2573	0.1950	0.2276	0.2413	0.1998	0.2246	0.2856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4961.06	63	chr2	171458134	.	AT	A	4961.06	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-1.079;DP=558;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.0101;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=-0.741;SOR=0.674	GT:AD:DP:GQ:PL	0/1:1,20:50:99:1157,736,946	4	0	6	0
chr2	178431939	178431939	T	C	ncRNA_intronic	CHROMR	.	.	.	.	60	1169	290	3	0	296	0.112377	.	.	.	283886	Dystonia_16|not_provided	MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067,Orphanet:210571|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122138	3179	26028	rs3997877	0.2943	0.2403	0.3023	0.2867	0.3147	0.2932	0.2928	0.3134	0.3128	0.1778	0.2978	0.2815	0.3023	0.2193	0.2375	0.3147	0.2731	0.2033	0.2253	0.2283	0.2273	0.2233	0.2781	0.2233	0.2225	0.2660	0.2612	0.1598	0.3223	0.2653	0.2686	0.2781	0.2030	0.2021	0.2530	0.2250	0.2176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1111	423.75	8	chr2	178431939	.	T	C	423.75	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-0.332;DP=55;ExcessHet=0.2633;FS=0;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=0.307;SOR=1.609	GT:AD:DP:GQ:PL	0/1:8,8:16:99:271,0,215	7	0	2	1
chr2	178535859	178535859	A	-	ncRNA_intronic	TTN-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	286102	not_provided|Hypertrophic_cardiomyopathy_2|Cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Limb-girdle_muscular_dystrophy,_recessive|Hypertrophic_cardiomyopathy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN239310|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN239352|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3039	0.2943	0.2856	0.2745	0.3470	0.3015	0.3364	0.3033	0.0023052	60	26028	rs749872538	0.1647	0.2031	0.1641	0.1654	0.1897	0.1640	0.1637	0.1842	0.1819	0.1658	0.1897	0.1758	0.1845	0.1899	0.1839	0.1614	0.1713	0.1743	0.0040	0.0053	0.0035	0.0046	0.0064	0.0037	0.0036	0.0052	0.0047	0.0050	0	0.0064	0.0117	0.0021	0.0111	0.0051	0.0020	0.0056	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	320.73	113	chr2	178535858	.	GA	G	320.73	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.967;DP=1100;ExcessHet=4.5998;FS=0.669;InbreedingCoeff=-0.4242;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.55;ReadPosRankSum=0.155;SOR=0.806	GT:AD:DP:GQ:PL	0/1:94,15:123:55:55,0,2076	4	0	6	0
chr2	178688666	178688666	C	T	intronic	TTN	.	.	.	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	8	1509	5	0	0	5	0.00165399	.	.	.	56026	Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Tibial_muscular_dystrophy	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0007	.	0.0005	0	8.678e-05	0	0	0.0008	0.0022	6.081e-05	0.000401	62	154602	rs369265969	0.0004	0.0004	0.0003	0.0004	0.0019	0.0004	0.0003	0.0011	0.0008	3.018e-05	6.714e-05	0.0131	0	0	0.0019	0.0001	0.0011	0.0002	0.0004	0.0004	0.0004	0.0003	0.0002	0.0003	0.0003	0.0001	0.0001	4.828e-05	0	0.0001	0.0098	0	0	0	0.0002	0.0005	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	226.43	36	chr2	178688666	.	C	T	226.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.75;DP=313;ExcessHet=0;FS=5.55;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.81;ReadPosRankSum=0.772;SOR=1.739	GT:AD:DP:GQ:PL	0/1:29,10:39:99:238,0,702	9	0	1	0
chr2	185788795	185788795	-	GAT	exonic	FSIP2	.	nonframeshift insertion	FSIP2:NM_173651:exon16:c.1659_1660insGAT:p.D554_S555insD	.	437	1060	25	0	0	25	0.011655	.	.	.	1708270	not_provided|Spermatogenic_failure_34|FSIP2-related_disorder	MedGen:C3661900|MONDO:MONDO:0029148,MedGen:C4748403,OMIM:618153|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00499201	0.0090	0.0018	0.0109	0	0.0044	0.0159	0.0054	0.0072	0.0011061	171	154602	rs141318533	0.0121	0.0115	0.0121	0.0122	0.0169	0.0120	0.0119	0.0141	0.0131	0.0020	0.0059	0.0217	2.8e-05	0.0029	0.0169	0.0134	0.0128	0.0072	0.0086	0.0087	0.0093	0.0079	0.0135	0.0082	0.0081	0.0128	0.0125	0.0026	0.0252	0.0069	0.0202	0	0.0035	0.0204	0.0135	0.0076	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009309	0.000000	0.024590	0.005882	0.083333	0.000000	0.011236	0.013514	0.05	1884.39	38	chr2	185788795	.	A	AGAT	1884.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.604;DP=433;ExcessHet=0;FS=0.746;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.47;ReadPosRankSum=0.696;SOR=0.559	GT:AD:DP:GQ:PL	0/1:52,50:102:99:1896,0,2008	9	0	1	0
chr2	190294624	190294624	C	T	exonic	HIBCH	.	nonsynonymous SNV	HIBCH:NM_014362:exon4:c.G226A:p.E76K,HIBCH:NM_198047:exon4:c.G226A:p.E76K	3-hydroxyisobutryl-CoA hydrolase deficiency, Autosomal recessive	5	1516	1	0	0	1	0.000329707	.	.	.	952868	3-hydroxyisobutyryl-CoA_hydrolase_deficiency	Human_Phenotype_Ontology:HP:6000215,MONDO:MONDO:0009603,MedGen:C0342738,OMIM:250620,Orphanet:88639	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.657	0.0987548746421	.	.	1.65e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs778434126	1.305e-05	1.71e-05	1.23e-05	1.38e-05	0.0022	8.34e-06	6.72e-06	0.0012	0.0010	2.999e-05	0	0	0	0	0.0022	5.416e-06	1.663e-05	0	1.314e-05	1.313e-05	2.572e-05	0	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	0	0.0005	0	0.083	0.43085	T	0.268	0.22494	T	0.98	0.65571	D	0.753	0.56122	P	0.000000	0.84330	D	0.047076	1	0.81001	D	1.44	0.36004	L	-0.36	0.73523	T	-2.95	0.63323	D	0.904	0.91047	-0.0475	0.81260	T	0.456	0.78802	T	10	0.79898924	0.79329	D	0.098755	0.76995	D	0.657	0.87135	0.506	0.60078	0.892757099709	0.89169	0.831023251482803	0.83061	0.205256797494	0.22944	0.535796582699	0.43852	T	0.521707	0.92004	D	0.247592	0.78374	D	0.22553	0.84451	D	0.935854852199554	0.60440	D	0.985868	0.95230	D	0.8859431	0.90162	0.6520371	0.79637	0.8859431	0.90163	0.6520371	0.79638	-9.802	0.72718	D	0.3163981401283377	0.41444	0.418	0.66138	A	.;.;.	.;.;.	4.225085	0.63937	24.6	0.99891492711594565	0.96513	0.97481	0.75027	D	AEFBI	0.809437	0.73295	D	0.602451348370505	0.73329	5.948426	0.602602220248434	0.75127	6.25619	0.998787008920485	0.37667	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.11	5.11	0.69188	6.876000	0.75358	5.945000	0.51547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	16.043	0.80498	511	0.75131	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	740.43	34	chr2	190294624	.	C	T	740.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.495;DP=413;ExcessHet=0;FS=1.813;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=1.34;SOR=0.509	GT:AD:DP:GQ:PL	0/1:47,34:81:99:752,0,1137	9	0	1	0
chr2	214792459	214792460	AA	-	intronic	BARD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	285273	Breast_neoplasm|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided	Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1322	0.1276	0.1831	0.0588	0.0921	0.1364	0.1358	0.1276	0.0001153	3	26028	rs747897450	0.0862	0.0980	0.0861	0.0862	0.1229	0.0857	0.0856	0.1192	0.1176	0.0813	0.1229	0.0925	0.0282	0.0637	0.1003	0.0873	0.0914	0.0932	0.0618	0.0596	0.0612	0.0624	0.0948	0.0607	0.0602	0.0904	0.0887	0.0529	0.0078	0.0948	0.0589	0.0009	0.0571	0.0720	0.0659	0.0656	0.0521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	291.39	11	chr2	214792458	.	TAA	T	291.39	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.28;DP=90;ExcessHet=0.3696;FS=0;InbreedingCoeff=0.0663;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.82;SOR=0.569	GT:AD:DP:GQ:PL	1/1:0,2:2:6:72,6,0	6	1	0	3
chr2	227104056	227104056	A	-	intronic	COL4A4	.	.	.	Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, familial benign (3)	5	1455	55	0	7	62	0.0185497	.	.	.	920171	Alport_syndrome|not_provided|Benign_familial_hematuria|COL4A4-related_disorder	MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63|MedGen:C3661900|MONDO:MONDO:0957317,MedGen:C0241908,OMIM:PS141200|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0276	0.0198	0.0330	0.0220	0.0066	0.0292	0.0288	0.0353	0.0247409	3825	154602	rs750699545	0.0048	0.0423	0.0049	0.0047	0.0068	0.0047	0.0046	0.0063	0.0061	0.0051	0.0060	0.0031	0.0017	0.0051	0.0037	0.0047	0.0047	0.0068	0.0002	0.0008	0.0002	0.0002	0.0002	0.0001	0.0001	8.154e-05	6.155e-05	0.0002	0	0.0001	0	0.0002	0.0006	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	43.11	33	chr2	227104055	.	TA	T	43.11	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.762;DP=233;ExcessHet=0.2348;FS=1.848;InbreedingCoeff=-0.1094;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=1.66;SOR=0.283	GT:AD:DP:GQ:PL	0/1:19,4:23:45:45,0,473	8	0	2	0
chr2	233767180	233767180	T	C	intronic	UGT1A1;UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	168048	Crigler-Najjar_syndrome|Hyperbilirubinemia|Lucey-Driscoll_syndrome|Gilbert_syndrome|not_provided	MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205|Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0061901	0.0031	0	0	0.0423	0	4.507e-05	0	0.0008	0.0028331	438	154602	rs4148327	0.0012	0.0012	0.0013	0.0012	0.0400	0.0012	0.0011	0.0383	0.0377	0	2.236e-05	7.654e-05	0.0400	0	0.0003	1.259e-05	0.0016	0.0009	0.0015	0.0015	0.0012	0.0017	0.0390	0.0013	0.0012	0.0346	0.0329	7.213e-05	0	0.0003	0	0.0390	0	0	1.47e-05	0.0005	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	446.43	37	chr2	233767180	.	T	C	446.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.94;DP=335;ExcessHet=0;FS=3.227;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.69;SOR=1.306	GT:AD:DP:GQ:PL	0/1:21,17:38:99:458,0,540	9	0	1	0
chr3	10064724	10064724	C	T	intronic	FANCD2	.	.	.	Fanconi anemia, complementation group D2, Autosomal recessive	0	1353	169	0	0	169	0.0587826	0	0.002	.	215265	Fanconi_anemia_complementation_group_A|Hereditary_breast_ovarian_cancer_syndrome|not_provided|Fanconi_anemia_complementation_group_D2|Fanconi_anemia|not_specified	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:C3661900|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0063	0.0008	0.0058	0.0009	0.0020	0.0022	0.0013	5.82e-05	9	154602	rs4019784	0.0006	0.0104	0.0006	0.0006	0.0171	0.0006	0.0006	0.0141	0.0130	0.0010	0.0002	0.0004	0.0028	0.0031	0.0171	0.0003	0.0011	0.0006	0.0021	0.0255	0.0020	0.0022	0.0034	0.0019	0.0018	0.0029	0.0027	0.0034	0.0012	0.0025	0.0013	0.0032	0.0020	0	0.0012	0.0050	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	426.45	38	chr3	10064724	.	C	T	426.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=3.03;DP=446;ExcessHet=0.7463;FS=6.7;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=56.93;MQRankSum=-7.427;QD=2.33;ReadPosRankSum=-1.686;SOR=1.398	GT:AD:DP:GQ:PL	0/1:49,7:56:90:90,0,1346	7	0	3	0
chr3	10141782	10141782	-	TCCGCCCCGCG	UTR5	VHL	NM_000551:c.-66_-65insTCCGCCCCGCG;NM_001354723:c.-66_-65insTCCGCCCCGCG;NM_198156:c.-66_-65insTCCGCCCCGCG	.	.	Erythrocytosis, familial, 2, Autosomal recessive;Hemangioblastoma, cerebellar, somatic (3);Pheochromocytoma, Autosomal dominant;Renal cell carcinoma, somatic;von Hippel-Lindau syndrome, Autosomal dominant	28	1481	11	2	0	15	0.00503863	.	.	.	496239	Von_Hippel-Lindau_syndrome|Chuvash_polycythemia|VHL-related_disorder|not_provided|not_specified|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1420177405	0.0005	0.0004	0.0003	0.0006	0.0062	0.0004	0.0004	0.0044	0.0042	0	0.0004	0.0004	0	0	0.0062	0.0002	0.0007	0.0048	0.0003	0.0003	0.0002	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	2.405e-05	0	0.0001	0.0006	0	0	0	0.0003	0.0005	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	508.39	33	chr3	10141782	.	C	CTCCGCCCCGCG	508.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.961;DP=297;ExcessHet=0;FS=5.391;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=0.396;SOR=1.085	GT:AD:DP:GQ:PL	0/1:15,16:31:99:520,0,534	9	0	1	0
chr3	27721936	27721936	-	CGGCGC	exonic	EOMES	.	nonframeshift insertion	EOMES:NM_001278182:exon1:c.358_359insGCGCCG:p.A119_A120insGA,EOMES:NM_005442:exon1:c.358_359insGCGCCG:p.A119_A120insGA	.	335	305	451	409	22	1291	0.675359	.	.	.	207064	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1220	0.536142	0.4783	0.2111	0.4286	0.8182	.	0.2673	0.5588	0.5465	0.0244305	3777	154602	rs368178421	0.3766	0.3336	0.3749	0.3784	0.7321	0.3757	0.3753	0.7234	0.7198	0.2946	0.5200	0.3958	0.7321	0.3378	0.4780	0.3617	0.4008	0.5188	0.4124	0.4144	0.4050	0.4202	0.8142	0.4097	0.4086	0.7933	0.7848	0.3178	0.2969	0.5654	0.4543	0.8142	0.3744	0.4650	0.3919	0.4284	0.6803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3510.5	15	chr3	27721936	.	G	GCGGCGC	3510.5	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.784;DP=173;ExcessHet=2.8549;FS=2.214;InbreedingCoeff=-0.2501;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.88;ReadPosRankSum=-0.411;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,12:21:99:.:.:520,0,235:.	2	2	6	0
chr3	45967297	45967297	C	T	exonic	FYCO1	.	synonymous SNV	FYCO1:NM_024513:exon8:c.G2037A:p.A679A	Cataract 18, autosomal recessive, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	295177	Cataract_18	MONDO:MONDO:0012395,MedGen:C1864908,OMIM:610019,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000798722	0.0005	0	0.0003	0	0	0.0004	0	0.0018	0.000414	64	154602	rs373400491	0.0002	0.0002	0.0002	0.0003	0.0013	0.0002	0.0002	0.0011	0.0011	2.987e-05	0.0002	0.0014	0	0	0.0005	0.0001	0.0003	0.0013	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	4.81e-05	0	0.0002	0.0012	0	0	0	0.0002	0.0009	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.009146	0.000000	0.05	1266.43	58	chr3	45967297	.	C	T	1266.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.05;DP=507;ExcessHet=0;FS=0.793;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=0.271;SOR=0.804	GT:AD:DP:GQ:PL	0/1:42,47:89:99:1278,0,967	9	0	1	0
chr3	58163173	58163173	C	A	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164319:exon42:c.C6969A:p.F2323L,FLNB:NM_001164318:exon43:c.C7008A:p.F2336L,FLNB:NM_001457:exon43:c.C7041A:p.F2347L,FLNB:NM_001164317:exon44:c.C7134A:p.F2378L	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	291363	FLNB-Related_Spectrum_Disorders|not_provided	MedGen:CN239400|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.819	0.619735841105	0.0004	0.000399361	0.0006	0	0.0005	0.0001	0.0002	0.0008	0	0.0007	0.0005563	86	154602	rs139325959	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0004	0.0005	0.0005	2.987e-05	0.0005	0	0	0.0002	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0005	0.0005	4.81e-05	0	0.0003	0	0	0	0	0.0007	0.0009	0.0008	0.009	0.72154	D	0.002	0.79402	D	0.343	0.35524	B	0.457	0.46994	P	0.000000	0.84330	D	0.085942	0.999964	0.81001	D	4	0.96753	H	-2.92	0.91748	D	-5.23	0.83899	D	0.795	0.86191	0.836	0.94850	D	0.867	0.95570	D	10	0.544053	0.63882	D	0.619736	0.96704	D	0.819	0.94200	0.878	0.96734	0.907146702657	0.90621	0.7181845656283848	0.71761	0.664439988566	0.59081	0.812714219093	0.83908	D	0.91636	0.98466	D	0.149337	0.69205	D	0.345485	0.90137	D	0.312008829859245	0.25497	T	0.995	0.98241	D	0.6150099	0.73497	0.505847	0.71439	0.6150099	0.73498	0.505847	0.71439	-13.405	0.90962	D	.	.	0.996	0.96223	P	.;.;.;.;.	.;.;.;.;.	3.947488	0.57808	23.9	0.99032708541698877	0.50830	0.93401	0.58119	D	AEFGBHCIJ	0.726830	0.67537	D	-0.0160203433218901	0.41130	2.454767	-0.0619533859048216	0.36978	2.158986	0.999965420133808	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.723	0.93126	0	.	.	5.39	2.62	0.30337	2.229000	0.42634	2.215000	0.31401	-0.773000	0.03420	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.6498:0.0:0.3502	9.118	0.35930	617	0.66297	.;.;.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1693.43	33	chr3	58163173	.	C	A	1693.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.822;DP=444;ExcessHet=0;FS=7.079;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-1.717;SOR=1.326	GT:AD:DP:GQ:PL	0/1:66,65:131:99:1705,0,1575	9	0	1	0
chr3	69109111	69109111	G	T	exonic	LMOD3	.	nonsynonymous SNV	LMOD3:NM_198271:exon3:c.C1667A:p.P556Q,LMOD3:NM_001304418:exon4:c.C1667A:p.P556Q	Nemaline myopathy 10, Autosomal recessive	435	1071	16	0	0	16	0.00741427	.	.	.	215293	not_specified|Nemaline_myopathy_10|not_provided	MedGen:CN169374|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.234	.	0.0003	0.00299521	0.0020	0.0002	0.0003	0	0	0.0007	0	0.0089	0.0010349	160	154602	rs201205115	0.0007	0.0007	0.0005	0.0009	0.0073	0.0007	0.0007	0.0068	0.0067	0	0.0002	0	0	1.904e-05	0.0038	0.0003	0.0010	0.0073	0.0005	0.0005	0.0004	0.0006	0.0071	0.0004	0.0004	0.0052	0.0045	4.821e-05	0	0.0001	0	0	0	0	0.0005	0.0009	0.0071	0.001	0.78490	D	0.045	0.49390	D	0.622	0.39964	P	0.11	0.31460	B	.	.	.	.	0.999999	0.58761	D	1.7	0.43825	L	2.6	0.13204	T	-5.59	0.86527	D	0.753	0.76203	-1.1277	0.01896	T	0.039	0.16849	T	9	0.009101003	0.00206	T	.	.	.	0.234	0.53644	.	.	0.441221003447	0.43743	0.4030161126887055	0.40217	0.0810768927185	0.09121	0.657460093498	0.61046	T	0.054363	0.29704	T	-0.241252	0.15189	T	-0.115872	0.62140	T	0.115575303002286	0.13992	T	0.625137	0.24143	T	0.59228265	0.72275	0.81371063	0.89136	0.59228265	0.72276	0.81371063	0.89137	-9.812	0.72778	D	.	.	0.657	0.71193	P	.;.;.	.;.;.	3.986647	0.58650	24.0	0.96878609923570203	0.31450	0.95287	0.64137	D	AEFDBHCI	0.801815	0.72742	D	0.30940619591794	0.56629	3.828033	0.390226168124508	0.60962	4.289849	0.99999999999988	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.662026	0.63922	0	.	.	5.53	5.53	0.82530	6.791000	0.74907	11.825000	0.97352	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:1.0:0.0	16.2	0.81882	349	0.85513	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004145	0.000000	0.004076	0.003497	0.000000	0.000000	0.003049	0.007576	0.05	605.43	36	chr3	69109111	.	G	T	605.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.837;DP=376;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=0.751;SOR=0.747	GT:AD:DP:GQ:PL	0/1:35,26:61:99:617,0,848	9	0	1	0
chr3	87253914	87253914	-	A	UTR3	CHMP2B	NM_014043:c.*92_*93insA;NM_001244644:c.*92_*93insA	.	.	Amyotrophic lateral sclerosis 17, Autosomal dominant;Dementia, familial, nonspecific, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	291699	Frontotemporal_dementia|not_provided	Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs886058906	0.0725	0.0758	0.0732	0.0720	0.0910	0.0719	0.0716	0.0864	0.0845	0.0910	0.0747	0.0788	0.0803	0.0720	0.0676	0.0716	0.0749	0.0661	0.0076	0.0082	0.0075	0.0076	0.0222	0.0072	0.0070	0.0209	0.0204	0.0222	0	0.0035	0.0017	0.0007	0.0034	0	0.0015	0.0104	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	60.46	16	chr3	87253914	.	C	CA	60.46	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.084;DP=120;ExcessHet=0.8432;FS=2.176;InbreedingCoeff=-0.2547;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=0;SOR=0.209	GT:AD:DP:GQ:PL	0/1:9,3:12:39:39,0,178	5	0	3	2
chr3	149141200	149141200	-	TT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	0	74	22	0	130	152	0.129412	.	.	.	293180	Hermansky-Pudlak_syndrome|not_provided	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0874	0.2678	0.0623	0.0136	0.0567	0.0669	0.0866	0.1206	0.0001153	3	26028	rs111598115	0.0494	0.0561	0.0489	0.0500	0.2238	0.0491	0.0490	0.2194	0.2175	0.2238	0.0419	0.0374	0.0039	0.0417	0.0609	0.0441	0.0556	0.0824	0.0888	0.0889	0.0892	0.0882	0.2303	0.0875	0.0869	0.2264	0.2248	0.2303	0.0271	0.0446	0.0315	0	0.0337	0.0292	0.0341	0.0674	0.0505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	48359.7	414	chr3	149141200	.	C	CTT	48359.7	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.377;DP=2716;ExcessHet=0.3131;FS=1.937;InbreedingCoeff=0.2;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=24.31;ReadPosRankSum=0.508;SOR=0.901	GT:AD:DP:GQ:PL	1/0:0,105:346:99:13205,5463,4422	7	0	3	0
chr3	165773492	165773492	C	T	exonic	BCHE	.	nonsynonymous SNV	BCHE:NM_000055:exon4:c.G1699A:p.A567T	Apnea, postanesthetic (3)	44	964	416	98	0	612	0.240945	.	.	YES	28259	Deficiency_of_butyrylcholinesterase|not_specified|not_provided|Butyrylcholinesterase_activity	MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.136	.	0.1977	0.158546	0.1891	0.1966	0.1155	0.1183	0.1714	0.2109	0.1991	0.1939	0.179157	27698	154602	rs1803274	0.1952	0.1965	0.1955	0.1949	0.2300	0.1946	0.1944	0.2197	0.2156	0.1919	0.1175	0.1779	0.1388	0.1691	0.2300	0.2027	0.1945	0.1868	0.1828	0.1828	0.1846	0.1809	0.1978	0.1810	0.1802	0.1950	0.1939	0.1886	0.2121	0.1383	0.1763	0.1173	0.1653	0.2007	0.1978	0.1835	0.1677	0.093	0.31532	T	0.15	0.37872	T	0.001	0.07471	B	0.012	0.16012	B	0.019382	0.27268	N	0.339910	0.933173	0.27002	P	2.455	0.71248	M	-0.18	0.77336	T	-0.52	0.38151	N	0.036	0.01068	-1.0170	0.24690	T	0.001	0.00222	T	9	0.0018072128	0.00024	T	.	.	.	0.136	0.36778	.	.	.	.	0.26196509411827273	0.26109	0.0146452542494	0.01391	0.319616317749	0.13362	T	0.358518	0.74836	T	-0.467858	0.00877	T	-0.301002	0.44619	T	0.0211996116972123	0.00822	T	0.774123	0.42528	T	0.22133149	0.44708	0.23066719	0.48175	0.23999383	0.46897	0.20989761	0.45352	-5.147	0.38398	T	.	.	0.085	0.16538	B	.;.	.;.	3.292023	0.45157	22.1	0.99632838182915928	0.76142	0.91322	0.53300	D	AEFI	0.801494	0.72719	D	-0.00633166657305249	0.41567	2.488702	0.123040286207381	0.45729	2.831012	0.00173072517578264	0.08818	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.03	4.14	0.47821	4.438000	0.59704	2.697000	0.34132	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9138:0.0:0.0862	11.972	0.52358	900	0.24599	Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain;Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain	BCHE	Heart_Atrial_Appendage	.	.	.	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	0.201010	0.212121	0.191576	0.211310	0.250000	0.146552	0.240854	0.196970	0.35	6016.93	70	chr3	165773492	.	C	T	6016.93	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.407;DP=560;ExcessHet=1.4371;FS=0.795;InbreedingCoeff=-0.0989;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=1.06;SOR=0.645	GT:AD:DP:GQ:PL	0/1:27,51:78:99:1244,0,726	4	1	5	0
chr3	165830185	165830185	C	G	exonic	BCHE	.	nonsynonymous SNV	BCHE:NM_000055:exon2:c.G849C:p.E283D	Apnea, postanesthetic (3)	1	1423	93	5	0	103	0.0349271	.	.	.	251000	not_specified|Deficiency_of_butyrylcholinesterase	MedGen:CN169374|MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.069	.	0.0275	0.0227636	0.0157	0.0591	0.0106	0.0001	0.0018	0.0112	0.0121	0.0252	0.015265	2360	154602	rs16849700	0.0146	0.0146	0.0144	0.0147	0.0632	0.0144	0.0143	0.0609	0.0600	0.0632	0.0086	0.0111	7.558e-05	0.0025	0.0435	0.0133	0.0173	0.0266	0.0228	0.0228	0.0233	0.0222	0.0556	0.0221	0.0219	0.0537	0.0530	0.0556	0	0.0095	0.0133	0.0002	0.0016	0.0170	0.0115	0.0232	0.0230	0.819	0.02966	T	0.684	0.06033	T	0.0	0.02946	B	0.0	0.01387	B	0.181221	0.17098	N	0.646005	0.999995	0.58761	D	0.205	0.09354	N	-0.34	0.68474	T	0.61	0.02480	N	0.025	0.00485	-0.9978	0.30535	T	0.010	0.03719	T	10	0.0018603504	0.00025	T	.	.	.	0.069	0.20116	0.156	0.05964	.	.	0.2556865214595545	0.25482	0.0140336365775	0.01334	0.261567831039	0.05078	T	0.168782	0.51591	T	-0.621603	0.00107	T	-0.622409	0.10997	T	0.000927469742528411	0.00009	T	0.609039	0.23055	T	0.17090616	0.37693	0.055666946	0.09807	0.17090616	0.37692	0.055666946	0.09807	-4.176	0.26403	T	0.09905550151647127	0.07152	0.074	0.04889	B	.	.	0.035718	0.04534	1.228	0.50691892432059793	0.04429	0.05233	0.11064	N	AEFI	0.141348	0.26350	N	-1.73852652749234	0.00714	0.03081989	-1.65574063237876	0.01346	0.06078368	1.52283790388214E-5	0.02871	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.62	-4.58	0.03168	-0.296000	0.08323	-0.068000	0.12334	-0.859000	0.02647	0.006000	0.17386	0.734000	0.26436	0.918000	0.45347	0.0884:0.2553:0.3496:0.3067	3.258	0.06435	910	0.22284	Carboxylesterase, type B	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027694	0.015152	0.027174	0.049708	0.000000	0.017241	0.018293	0.037879	0.05	1781.43	36	chr3	165830185	.	C	G	1781.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.541;DP=468;ExcessHet=0;FS=1.28;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.58;SOR=0.572	GT:AD:DP:GQ:PL	0/1:81,71:152:99:1793,0,2187	9	0	1	0
chr3	170998041	170998041	G	A	exonic	SLC2A2	.	synonymous SNV	SLC2A2:NM_001278658:exon10:c.C1080T:p.F360F,SLC2A2:NM_001278659:exon10:c.C918T:p.F306F,SLC2A2:NM_000340:exon11:c.C1437T:p.F479F	Fanconi-Bickel syndrome, Autosomal recessive	2	712	648	160	0	968	0.404682	.	.	.	135795	not_specified|Fanconi-Bickel_syndrome|Type_2_diabetes_mellitus|not_provided	MedGen:CN169374|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088|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	.	.	.	.	.	.	.	.	.	.	0.3964	0.372604	0.3159	0.5942	0.2813	0.2418	0.2678	0.3020	0.3113	0.2840	0.310611	48021	154602	rs5398	0.2950	0.2951	0.2967	0.2933	0.6047	0.2943	0.2940	0.5978	0.5949	0.6047	0.2907	0.3167	0.2228	0.2633	0.3290	0.2893	0.3178	0.2786	0.3751	0.3754	0.3789	0.3713	0.5947	0.3726	0.3715	0.5885	0.5859	0.5947	0.2429	0.3398	0.3292	0.2307	0.2443	0.3151	0.2923	0.3645	0.2732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.367440	0.439394	0.398098	0.333333	0.450000	0.379310	0.328221	0.310606	0.25	7440.13	123	chr3	170998041	.	G	A	7440.13	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.814;DP=629;ExcessHet=0.2065;FS=4.301;InbreedingCoeff=0.2;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=17.93;ReadPosRankSum=-0.093;SOR=0.466	GT:AD:DP:GQ:PL	0/1:52,43:95:99:960,0,1505	6	1	3	0
chr4	634704	634704	G	A	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_000283:exon2:c.G496A:p.E166K,PDE6B:NM_001145291:exon2:c.G496A:p.E166K	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	1	1465	54	2	0	58	0.019411	.	.	.	295348	not_provided|Retinal_dystrophy|Retinitis_pigmentosa|Congenital_stationary_night_blindness_autosomal_dominant_2	MedGen:C3661900|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|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.145	.	0.0087	0.00499201	0.0096	0.0020	0.0068	0	0.0042	0.0139	0.0066	0.0065	0.00978	1512	154602	rs115775983	0.0120	0.0121	0.0122	0.0119	0.0137	0.0119	0.0118	0.0135	0.0135	0.0021	0.0074	0.0140	0.0002	0.0050	0.0116	0.0137	0.0114	0.0066	0.0091	0.0091	0.0099	0.0082	0.0131	0.0087	0.0085	0.0124	0.0121	0.0024	0.0802	0.0103	0.0167	0.0004	0.0038	0.0034	0.0131	0.0081	0.0087	1.0	0.00964	T	1.0	0.01155	T	0.017	0.18474	B	0.008	0.16862	B	0.000002	0.62929	D	0.055788	0.999934	0.51612	D	0.52	0.13579	N	-0.23	0.66652	T	0.64	0.02368	N	0.504	0.54234	-0.9719	0.36798	T	0.093	0.35336	T	10	0.006758034	0.00153	T	.	.	.	0.145	0.38592	.	.	0.764465206445	0.76231	0.6591859148317153	0.65855	0.570417275968	0.53198	0.506645441055	0.39754	T	0.181803	0.53359	T	-0.420052	0.01709	T	-0.364476	0.37534	T	0.00907532143853738	0.00114	T	0.927907	0.73422	D	0.27059433	0.50131	0.18972649	0.42335	0.29364362	0.52330	0.16230349	0.37708	-3.517	0.16685	T	0.06406952643032428	0.02014	0.091	0.15385	B	.;.	.;.	2.431908	0.31284	18.70	0.22687550527391873	0.00924	0.86985	0.46393	D	AEFDBI	0.185573	0.31289	N	-0.575143034493976	0.19701	1.033188	-0.411563835111279	0.24658	1.351505	0.0858597422783776	0.15993	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.28	4.28	0.50183	3.717000	0.54640	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.0:0.0:1.0:0.0	14.200	0.65237	804	0.43891	.;GAF domain|GAF domain	RP11-1263C18.2	Skin_Not_Sun_Exposed_Suprapubic	PIGG|PIGG|PIGG|PIGG|PIGG|PIGG|PIGG	Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Heart_Atrial_Appendage|Heart_Left_Ventricle|Skin_Sun_Exposed_Lower_leg|Testis	rs115775983	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	0.013595	0.005051	0.017663	0.008772	0.000000	0.034483	0.018293	0.007576	0.05	1123.43	34	chr4	634704	.	G	A	1123.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.01;DP=412;ExcessHet=0;FS=3.813;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.367;SOR=1.108	GT:AD:DP:GQ:PL	0/1:57,45:102:99:1135,0,1320	9	0	1	0
chr4	6300980	6300980	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005:exon8:c.C1185T:p.V395V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	306	693	523	0	1739	0.739685	.	.	.	54598	WFS1-Related_Spectrum_Disorders|Wolfram_syndrome_1|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_provided|not_specified	MedGen:CN239410|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5531	0.641573	0.6245	0.4646	0.7443	0.9358	0.5720	0.5907	0.6355	0.6352	0.616195	95265	154602	rs1801206	0.6051	0.6051	0.6041	0.6061	0.9578	0.6040	0.6036	0.9497	0.9464	0.4555	0.7260	0.6765	0.9578	0.5715	0.5902	0.5890	0.6193	0.6353	0.5756	0.5759	0.5734	0.5779	0.9332	0.5724	0.5711	0.9111	0.9021	0.4596	0.3890	0.6659	0.6603	0.9332	0.5667	0.6156	0.5925	0.6087	0.6444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.592145	0.550505	0.592391	0.529240	0.600000	0.594828	0.612805	0.643939	0.6	45238.0	229	chr4	6300980	.	C	T	45238.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=-1.734;DP=2513;ExcessHet=2.8549;FS=0;InbreedingCoeff=-0.25;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=20.08;ReadPosRankSum=0.358;SOR=0.66	GT:AD:DP:GQ:PL	1/1:0,284:284:99:9217,853,0	1	3	6	0
chr4	6301162	6301162	G	A	exonic	WFS1	.	nonsynonymous SNV	WFS1:NM_001145853:exon8:c.G1367A:p.R456H,WFS1:NM_006005:exon8:c.G1367A:p.R456H	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	1342	164	16	0	196	0.0680556	.	.	.	54601	not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_6|WFS1-Related_Spectrum_Disorders|not_specified|Wolfram_syndrome_1	MedGen:C3661900|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:CN239410|MedGen:CN169374|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.529	.	0.0467	0.0603035	0.0570	0.0360	0.0581	0.0921	0.0767	0.0509	0.0806	0.0663	0.0554909	8579	154602	rs1801208	0.0519	0.0519	0.0516	0.0522	0.1010	0.0516	0.0514	0.0984	0.0974	0.0393	0.0611	0.0368	0.1010	0.0781	0.0684	0.0480	0.0570	0.0637	0.0511	0.0511	0.0496	0.0526	0.0967	0.0502	0.0498	0.0897	0.0870	0.0367	0.0264	0.0603	0.0395	0.0967	0.0821	0.0918	0.0493	0.0546	0.0635	0.08	0.33585	T	0.011	0.64786	D	1.0	0.90584	D	0.953	0.69275	D	0.000000	0.84330	D	0.000000	0.999982	0.54805	D	2.785	0.81254	M	-2.53	0.89430	D	-1.31	0.32791	N	0.31	0.37093	-0.3089	0.74736	T	0.200	0.55541	T	10	0.005521953	0.00122	T	.	.	.	0.529	0.80128	.	.	.	.	0.8032156632406995	0.80275	.	.	0.621801912785	0.55984	T	0.337688	0.70704	T	-0.254498	0.13552	T	-0.0514921	0.66920	D	0.0528049889824658	0.05985	T	0.928407	0.73561	D	0.11924474	0.28081	0.105894595	0.25465	0.11259901	0.26600	0.11827476	0.28550	-4.182	0.26490	T	0.7180372864535224	0.79888	0.178	0.38800	B	.;.	.;.	4.364237	0.67135	25.1	0.9987505862718028	0.95244	0.99156	0.92054	D	AEFDBI	0.876979	0.80133	D	0.662040658012356	0.77150	6.619647	0.587040423047931	0.74008	6.064921	0.999999999888025	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.77	4.77	0.60425	9.341000	0.96446	8.658000	0.77960	0.674000	0.70861	0.999000	0.42656	1.000000	0.68203	0.443000	0.27738	0.0:0.0:1.0:0.0	16.785	0.85434	970	0.06235	.;.	.	.	TBC1D14	Artery_Tibial	.	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	0.072508	0.070707	0.097826	0.070175	0.150000	0.068966	0.042683	0.049242	0.1	4731.14	166	chr4	6301162	.	G	A	4731.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.6;DP=1780;ExcessHet=0.2348;FS=1.178;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=1.33;SOR=0.773	GT:AD:DP:GQ:PL	0/1:106,92:198:99:2482,0,2707	8	0	2	0
chr4	6301295	6301295	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1500T:p.N500N,WFS1:NM_006005:exon8:c.C1500T:p.N500N	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	10	265	679	568	0	1815	0.773987	.	.	YES	54604	WFS1-Related_Spectrum_Disorders|not_specified|Type_2_diabetes_mellitus|not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_6	MedGen:CN239410|MedGen:CN169374|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|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6323	0.729433	0.6595	0.6736	0.7600	0.9441	0.5735	0.6010	0.6641	0.7013	0.648394	100243	154602	rs1801214	0.6232	0.6230	0.6215	0.6249	0.9621	0.6221	0.6216	0.9540	0.9506	0.6757	0.7449	0.6960	0.9621	0.5729	0.6281	0.5982	0.6483	0.6951	0.6443	0.6444	0.6428	0.6459	0.9402	0.6409	0.6395	0.9181	0.9091	0.6704	0.3904	0.7014	0.6817	0.9402	0.5669	0.6531	0.6019	0.6596	0.7030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.658107	0.641414	0.689373	0.599415	0.700000	0.629310	0.643293	0.696970	0.75	46735.1	192	chr4	6301295	.	C	T	46735.1	.	AC=15;AF=0.75;AN=20;BaseQRankSum=1.34;DP=2085;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=15;MLEAF=0.75;MQ=60;MQRankSum=0;QD=22.8;ReadPosRankSum=0.275;SOR=0.65	GT:AD:DP:GQ:PL	1/1:0,234:234:99:7572,703,0	0	5	5	0
chr4	9783510	9783510	T	C	UTR3	DRD5	NM_000798:c.*47T>C	.	.	Dystonia, primary cervical (3)	432	231	483	376	0	1235	0.727755	.	.	.	1276892	not_provided|Hereditary_attention_deficit-hyperactivity_disorder	MedGen:C3661900|MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5689	0.425519	0.5709	0.3972	0.5150	0.3467	0.6116	0.6488	0.5898	0.4565	0.517587	80020	154602	rs1967551	0.6148	0.6108	0.6175	0.6119	0.6440	0.6137	0.6132	0.6427	0.6422	0.3840	0.5321	0.6847	0.3638	0.6146	0.5991	0.6440	0.5866	0.4671	0.5462	0.5462	0.5490	0.5433	0.6414	0.5431	0.5418	0.6364	0.6343	0.3963	0.5552	0.5524	0.6875	0.3346	0.6050	0.5748	0.6414	0.5464	0.4645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.45	13081.0	99	chr4	9783510	.	T	C	13081.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.042;DP=768;ExcessHet=0.0657;FS=2.059;InbreedingCoeff=0.3939;MLEAC=9;MLEAF=0.45;MQ=59.99;MQRankSum=0;QD=21.73;ReadPosRankSum=0.131;SOR=0.906	GT:AD:DP:GQ:PL	0/1:53,62:115:99:1562,0,1289	4	3	3	0
chr4	38797027	38797027	C	A	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.G1805T:p.S602I	.	433	95	396	598	0	1592	0.893378	.	.	.	23399	Leprosy,_susceptibility_to,_1|Leprosy,_protection_against|TLR1-related_disorder	MONDO:MONDO:0012358,MedGen:C1835932,OMIM:609888,Orphanet:548|MedGen:C2750734|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|protective	.	.	.	.	.	.	.	.	0.056	.	0.4786	0.800519	0.5389	0.8744	0.7912	0.9899	0.1358	0.3358	0.5330	0.8978	0.490919	75897	154602	rs5743618	0.3478	0.3478	0.3322	0.3635	0.9891	0.3470	0.3467	0.9809	0.9775	0.8882	0.7620	0.5248	0.9891	0.1455	0.7954	0.2484	0.4321	0.8925	0.5230	0.5233	0.5155	0.5310	0.9882	0.5200	0.5187	0.9656	0.9564	0.8680	0.3374	0.6795	0.5378	0.9882	0.1309	0.7857	0.2742	0.5970	0.9061	1.0	0.00964	T	0.6	0.07946	T	0.0	0.02946	B	0.0	0.01387	B	0.223979	0.03474	N	1.586730	1	0.08975	P	-2.455	0.00064	N	4.65	0.01779	T	2.33	0.00281	N	0.015	0.00203	-0.9814	0.34678	T	0.000	0.00011	T	9	1.5470836e-06	0.00003	T	.	.	.	0.056	0.15993	.	.	.	.	0.194904177424025	0.19408	0.0725892304128	0.08138	0.27531477809	0.06848	T	0.049442	0.28307	T	-0.808969	0.00007	T	-0.790984	0.02138	T	0.00365530579536446	0.00039	T	0.0535946	0.00383	T	0.052709427	0.09870	0.056038916	0.09939	0.052709427	0.09870	0.056038916	0.09939	1.962	0.00053	T	.	.	0.056	0.00496	B	.;.	.;.	0.550795	0.09195	5.976	0.10915785735844558	0.00150	0.04174	0.09671	N	AEFGBCI	0.072195	0.14400	N	-1.36048708973054	0.03017	0.134138	-1.14431403439413	0.06871	0.3322031	0.970372123348399	0.29203	0.631515	0.41029	0	0.697927	0.68747	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.43	2.76	0.31527	0.245000	0.17917	0.357000	0.17536	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.4839:0.3908:0.0:0.1253	8.482	0.32208	653	0.62661	.;.	FAM114A1|FAM114A1|TLR6|TLR10|TLR1|TLR6|TLR1|TLR1|FAM114A1|TLR1|TLR1|FAM114A1|TLR6|TLR6|FAM114A1|TLR1|FAM114A1|FAM114A1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Whole_Blood	TLR1|TLR1|TLR10|TLR1|TLR1|TLR1|TLR1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Lung|Spleen|Whole_Blood	chr4:38798648	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	0.802115	0.868687	0.845109	0.918129	0.550000	0.758621	0.542683	0.757576	0.95	60600.1	212	chr4	38797027	.	C	A	60600.1	.	AC=19;AF=0.95;AN=20;BaseQRankSum=0.62;DP=2058;ExcessHet=0;FS=1.208;InbreedingCoeff=-0.0526;MLEAC=19;MLEAF=0.95;MQ=53.04;MQRankSum=-9.219;QD=30.19;ReadPosRankSum=-0.483;SOR=0.854	GT:AD:DP:GQ:PL	1/1:0,199:199:99:6710,597,0	0	9	1	0
chr4	154586438	154586438	T	C	exonic	FGA	.	nonsynonymous SNV	FGA:NM_000508:exon5:c.A991G:p.T331A,FGA:NM_021871:exon5:c.A991G:p.T331A	Afibrinogenemia, congenital, Autosomal recessive;Amyloidosis, familial visceral, Autosomal dominant;Dysfibrinogenemia, congenital;Hypodysfibrinogenemia, congenital	28	792	564	118	20	820	0.33557	.	.	.	31459	not_specified|Venous_thromboembolism,_susceptibility_to|Congenital_afibrinogenemia|Familial_visceral_amyloidosis,_Ostertag_type|not_provided	MedGen:CN169374|MedGen:C1858965|MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880|MONDO:MONDO:0007099,MedGen:C0268389,OMIM:105200,Orphanet:85450|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.092	.	0.2899	0.327077	0.2872	0.3752	0.2388	0.4541	0.3066	0.2510	0.2841	0.3173	0.279718	43245	154602	rs6050	0.2660	0.2660	0.2650	0.2670	0.4674	0.2653	0.2650	0.4618	0.4595	0.3629	0.2417	0.1859	0.4674	0.3153	0.2183	0.2525	0.2547	0.3265	0.2938	0.2939	0.2929	0.2947	0.4451	0.2915	0.2906	0.4299	0.4237	0.3634	0.2572	0.2478	0.1818	0.4451	0.3124	0.2041	0.2543	0.2578	0.3042	0.471	0.11406	T	0.831	0.08052	T	0.025	0.19245	B	0.008	0.13708	B	0.019120	0.01504	N	3.217810	1	0.08975	P	0.12	0.08593	N	-0.53	0.70833	T	-1.1	0.28497	N	0.017	0.00527	-1.0206	0.23519	T	0.000	0.00011	T	9	0.0003001392	0.00010	T	.	.	.	0.092	0.26621	.	.	.	.	0.18455593357657205	0.18373	0.0582763209917	0.06453	0.271667361259	0.06360	T	0.196286	0.55263	T	-0.68717	0.00043	T	-0.616028	0.11501	T	0.00908341073136414	0.00114	T	0.483152	0.14651	T	0.021154398	0.00703	0.027020706	0.00826	0.024007758	0.01191	0.03657319	0.03131	-5.133	0.38253	T	.	.	0.070	0.03625	B	.;.	.;.	-1.623381	0.00229	0.003	0.5951060700015256	0.06241	0.00697	0.02968	N	AEFBHCI	0.231798	0.35497	N	-1.69680907988312	0.00853	0.03690796	-1.74153389084326	0.00965	0.04324642	0.999998855499622	0.74766	0.594549	0.33734	0	0.573888	0.26702	0	0.573888	0.23631	0	0.836244	0.99985	0	.	.	4.95	-6.65	0.01630	-7.952000	0.00035	-20.000000	0.00162	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4201:0.2848:0.1048:0.1903	1.170	0.01712	798	0.45050	.;.	TLR2|DCHS2|PLRG1|FGG	Artery_Tibial|Brain_Cortex|Esophagus_Mucosa|Lung	.	.	.	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	0.252266	0.207071	0.221467	0.277778	0.250000	0.250000	0.253049	0.310606	0.3	14268.0	35	chr4	154586438	.	T	C	14268.0	.	AC=6;AF=0.3;AN=20;BaseQRankSum=2.02;DP=1275;ExcessHet=4.5998;FS=1.72;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=0.406;SOR=0.743	GT:AD:DP:GQ:PL	0/1:102,95:197:99:2660,0,2622	4	0	6	0
chr5	13886136	13886138	AAA	-	intronic	DNAH5	.	.	.	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	.	.	.	.	.	.	.	.	.	295553	Primary_ciliary_dyskinesia|not_specified|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1980	0.1530	0.2345	0.0616	0.3012	0.2362	0.2935	0.0933	0.0001229	19	154602	rs201639682	0.2197	0.2090	0.2202	0.2191	0.2636	0.2189	0.2187	0.2584	0.2562	0.1733	0.2636	0.2290	0.0664	0.2132	0.2468	0.2261	0.2174	0.2025	0.2129	0.2043	0.2115	0.2145	0.2821	0.2108	0.2099	0.2742	0.2710	0.1491	0.2864	0.2821	0.2820	0.0620	0.2497	0.2924	0.2356	0.2207	0.2146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3793.86	25	chr5	13886135	.	CAAA	C	3793.86	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.075;DP=338;ExcessHet=0.2348;FS=1.041;InbreedingCoeff=-0.1111;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=22.72;ReadPosRankSum=0.503;SOR=0.563	GT:AD:DP:GQ:PL	1/0:3,9:21:51:444,51,163	3	0	7	0
chr5	137621778	137621779	AC	-	UTR3	KLHL3	NM_001257194:c.*320_*319delGT;NM_001257195:c.*320_*319delGT;NM_017415:c.*320_*319delGT	.	.	Pseudohypoaldosteronism, type IID, Autosomal recessive, Autosomal dominant	198	17	1	10	0	21	0.381818	.	.	.	295447	not_provided|Autosomal_dominant_pseudohypoaldosteronism_type_1	MedGen:C3661900|MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001229	19	154602	rs3839339	0.5955	0.4913	0.5950	0.5960	0.6139	0.5923	0.5910	0.6098	0.6081	0.5778	0.5607	0.5865	0.4989	0.6331	0.5928	0.6139	0.5961	0.5130	0.8291	0.8282	0.8340	0.8240	0.8789	0.8253	0.8237	0.8730	0.8705	0.8015	0.9372	0.7848	0.8130	0.5670	0.8739	0.8571	0.8789	0.8235	0.6780	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	478.52	8	chr5	137621777	.	TAC	T	478.52	.	AC=7;AF=0.5;AN=14;DP=26;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.91;SOR=1.292	GT:AD:DP:GQ:PL	1/1:0,3:3:9:103,9,0	3	3	1	3
chr5	138556481	138556481	G	A	exonic	HSPA9	.	synonymous SNV	HSPA9:NM_004134:exon16:c.C1933T:p.L645L	Anemia, sideroblastic, 4, Autosomal dominant;Even-plus syndrome, Autosomal recessive	451	281	404	386	0	1176	0.67664	.	.	.	1275200	not_provided|Even-plus_syndrome	MedGen:C3661900|MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5140	0.645767	0.4886	0.7500	0.3719	0.7866	0.3593	0.4053	0.4670	0.6394	0.0001153	3	26028	rs10117	0.4321	0.4321	0.4259	0.4383	0.8093	0.4312	0.4308	0.8019	0.7988	0.7504	0.3922	0.4426	0.8093	0.3505	0.5483	0.3963	0.4595	0.6371	0.5194	0.5195	0.5179	0.5211	0.8025	0.5164	0.5151	0.7821	0.7738	0.7485	0.5439	0.4278	0.4443	0.8025	0.3500	0.5476	0.4000	0.5005	0.6459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.546324	0.454545	0.528533	0.593567	0.550000	0.560345	0.573171	0.606061	0.5	13600.0	131	chr5	138556481	.	G	A	13600.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.729;DP=1022;ExcessHet=8.8523;FS=1.107;InbreedingCoeff=-0.6;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-0.205;SOR=0.789	GT:AD:DP:GQ:PL	0/1:64,57:121:99:1414,0,1475	1	1	8	0
chr6	6318562	6318562	C	A	exonic	F13A1	.	nonsynonymous SNV	F13A1:NM_000129:exon2:c.G103T:p.V35L	Factor XIIIA deficiency, Autosomal recessive	18	1151	323	30	0	383	0.142644	.	.	.	31571	not_specified|not_provided|Factor_XIII,_A_subunit,_deficiency_of|Myocardial_infarction,_protection_against|Venous_thrombosis,_protection_against	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331|MedGen:C3277063|MedGen:C2751120	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.216	.	0.2281	0.147764	0.2059	0.1840	0.2566	0.0006	0.2123	0.2486	0.2126	0.1163	0.204499	31616	154602	rs5985	0.2350	0.2350	0.2386	0.2313	0.2581	0.2343	0.2340	0.2573	0.2570	0.1795	0.2536	0.1703	0.0008	0.2069	0.1336	0.2581	0.2120	0.1164	0.2150	0.2153	0.2200	0.2098	0.2557	0.2131	0.2123	0.2525	0.2512	0.1844	0.3717	0.2302	0.1696	0.0023	0.2059	0.1258	0.2557	0.2075	0.1167	1.0	0.53172	T	0.428	0.13792	T	.	.	.	.	.	.	0.549870	0.11447	N	0.784671	1	0.08975	P	.	.	.	-2.06	0.85875	D	-0.27	0.47683	N	0.018	0.00252	-1.0984	0.04290	T	0.089	0.34160	T	9	0.0058254898	0.00130	T	.	.	.	0.216	0.50959	0.521	0.62368	.	.	0.251286304130597	0.25042	0.218364611194	0.24371	0.279310077429	0.07396	T	0.006489	0.05922	T	-0.532642	0.00371	T	-0.394059	0.34077	T	0.000545350228055955	0.00005	T	0.29797	0.05545	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.04847	B	.;.;.	.;.;.	-1.135760	0.00599	0.015	0.36128701424949611	0.02307	0.01153	0.04166	N	AEFDBI	0.092907	0.18803	N	-1.50731017501558	0.01801	0.07894147	-1.43471435441821	0.02911	0.1348284	0.99996711313162	0.48965	0.615465	0.37627	0	0.633656	0.55848	0	0.535252	0.11790	0	0.542086	0.14980	0	.	.	4.64	1.89	0.24700	-0.148000	0.10203	-0.167000	0.11264	-1.952000	0.00483	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0869:0.1605:0.5922:0.1605	4.197	0.09908	975	0.05339	.;.;.	.	.	.	.	rs5985	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	0.125256	0.095745	0.116848	0.130178	0.350000	0.129310	0.136943	0.114504	0.15	2800.45	34	chr6	6318562	.	C	A	2800.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.835;DP=474;ExcessHet=0.7463;FS=1.013;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.944;SOR=0.779	GT:AD:DP:GQ:PL	0/1:43,33:76:99:843,0,941	7	0	3	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_004415:exon24:c.G8472C:p.G2824G	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	5	101	508	907	1	2323	0.919968	.	.	.	54134	Woolly_hair-skin_fragility_syndrome|not_provided|DSP-related_disorder|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis|Cardiovascular_phenotype|Lethal_acantholytic_epidermolysis_bullosa|Keratosis_palmoplantaris_striata_2	MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|.|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6881	0.709465	0.7117	0.6397	0.7338	0.8066	0.6397	0.7101	0.6850	0.7272	0.139468	21562	154602	rs2744380	0.7026	0.7025	0.7013	0.7039	0.8141	0.7014	0.7009	0.8067	0.8036	0.6292	0.7523	0.7458	0.8141	0.6463	0.7567	0.6983	0.7106	0.7218	0.6908	0.6909	0.6880	0.6938	0.7964	0.6873	0.6859	0.7760	0.7677	0.6384	0.6941	0.7554	0.7524	0.7964	0.6493	0.7993	0.7001	0.7079	0.7252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.767875	0.792929	0.766304	0.698830	0.800000	0.810345	0.829268	0.704545	0.8	85878.4	534	chr6	7585734	.	G	C	85878.4	.	AC=16;AF=0.8;AN=20;BaseQRankSum=2.8;DP=3661;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=16;MLEAF=0.8;MQ=60;MQRankSum=0;QD=24.18;ReadPosRankSum=0.224;SOR=0.671	GT:AD:DP:GQ:PL	0/1:205,191:396:99:5039,0,5346	0	6	4	0
chr6	15593088	15593088	-	A	intronic	DTNBP1	.	.	.	Hermansky-Pudlak syndrome 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299547	not_provided|not_specified|Hermansky-Pudlak_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1750	0.2290	0.1567	0.2439	0.1055	0.1306	0.1648	0.2463	0.0002305	6	26028	rs199770715	0.2097	0.2189	0.2101	0.2093	0.2861	0.2090	0.2087	0.2813	0.2793	0.2759	0.1805	0.1867	0.2861	0.1271	0.2397	0.2068	0.2173	0.2499	0.1777	0.1747	0.1766	0.1789	0.3401	0.1758	0.1750	0.3264	0.3209	0.2501	0.0721	0.1769	0.1399	0.3401	0.0776	0.1556	0.1316	0.1878	0.2487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1595.53	95	chr6	15593088	.	G	GA	1595.53	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.02;DP=510;ExcessHet=7.0302;FS=4.221;InbreedingCoeff=-0.5339;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=6.57;ReadPosRankSum=-0.364;SOR=0.861	GT:AD:DP:GQ:PL	0/1:13,33:49:99:678,0,178	5	0	5	0
chr6	32043548	32043548	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon5:c.G826A:p.G276S,TNXB:NM_001365276:exon36:c.G11539A:p.G3847S,TNXB:NM_019105:exon36:c.G11533A:p.G3845S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	46	1439	32	5	0	42	0.0143836	.	.	.	1683144	See_cases|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.137	.	0.0018	0.00339457	0.0068	0.0016	0.0103	0.0017	0.0003	0.0063	0.0075	0.0139	0.0007684	20	26028	rs199688928	0.0039	0.0035	0.0034	0.0043	0.0194	0.0038	0.0037	0.0155	0.0140	0.0004	0.0055	0.0097	0.0003	0.0002	0.0194	0.0032	0.0058	0.0100	0.0032	0.0034	0.0027	0.0037	0.0095	0.0029	0.0028	0.0069	0.0061	0.0005	0	0.0078	0.0082	0.0014	0	0.0106	0.0035	0.0052	0.0095	0.298	0.18000	T	0.0	0.92824	D	.	.	.	.	.	.	0.000500	0.43931	D	0.101185	1	0.81001	D	.	.	.	0.5	0.55608	T	-4.0	0.81269	D	0.428	0.46742	-1.0719	0.09001	T	0.091	0.34847	T	10	0.009701818	0.00218	T	.	.	.	0.137	0.36984	.	.	0.316918214084	0.31302	0.4136048951951291	0.41276	1.07586337657	0.76961	0.59685254097	0.52460	T	0.064485	0.32447	T	-0.471116	0.00837	T	-0.442537	0.28526	T	0.0281921996046609	0.01716	T	0.668433	0.72366	T	0.20872347	0.43117	0.20812012	0.45100	0.20204142	0.42235	0.19100328	0.42534	-6.141	0.47444	T	0.12400312571121505	0.12101	0.297	0.52728	B	.;.;.;.;.	.;.;.;.;.	4.120674	0.61586	24.4	0.9950172087484398	0.68089	0.75628	0.37039	D	AEFGBI	0.269367	0.38566	N	0.186475487493959	0.50551	3.243918	0.191575787999785	0.49384	3.142268	0.170872636974423	0.17733	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.44	4.51	0.54589	2.440000	0.44513	.	.	0.599000	0.40250	0.294000	0.25270	1.000000	0.68203	0.696000	0.34018	0.0:0.8166:0.1834:0.0	11.335	0.48734	917	0.20147	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	0.020742	0.010204	0.012228	0.042553	0.000000	0.017241	0.030675	0.026515	0.1	322.34	14	chr6	32043548	.	C	T	322.34	.	AC=2;AF=0.1;AN=20;DP=92;ExcessHet=0;FS=0;InbreedingCoeff=0.9079;MLEAC=2;MLEAF=0.1;MQ=40;QD=27.08;SOR=4.407	GT:AD:DP:GQ:PL	1/1:0,8:8:24:345,24,0	9	1	0	0
chr6	32580272	32580272	T	C	splicing	HLA-DRB1	NM_001243965:exon7:c.737-2A>G;NM_002124:exon5:c.764-2A>G	.	.	.	45	1469	6	2	0	10	0.00339213	0.9999	0.734	YES	3225348	Multiple_sclerosis,_susceptibility_to	MONDO:MONDO:0007462,MedGen:C1868685,OMIM:126200,OMIM:PS126200	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0003	0.0006	0.0009	0	0.0010	0.0015	0.0002	0.0001537	4	26028	rs756519999	7.434e-06	0.0001	6.525e-06	8.301e-06	0.0003	3.09e-06	1.99e-06	.	.	0	0	0	0	8.718e-05	0.0003	1.472e-06	0	1.443e-05	1.84e-05	0.0002	0	3.79e-05	3.977e-05	3.06e-06	1.14e-06	6.59e-06	2.47e-06	0	0	0	0	0	0	0	3.977e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.190081	0.22246	T	-0.510815	0.21232	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.437851	0.90896	32	0.85149035426513187	0.15715	0.64364	0.32383	D	AEFBCI	.	.	.	0.580347858300031	0.71948	5.729366	0.300592803444116	0.55574	3.720369	0.399600310485906	0.20119	0.256867	0.04430	0	0.271743	0.05004	0	0.091713	0.02954	0	0.058706	0.01089	0	0.110662	0.23644	4.1	2.93	0.33092	3.342000	0.51877	.	.	0.478000	0.22058	0.985000	0.35982	0.128000	0.22971	0.049000	0.15107	0.0:0.116:0.0:0.884	6.479	0.21252	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	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	.	.	.	.	.	.	.	.	0.05556	1325.05	198	chr6	32580272	.	T	C	1325.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.34;DP=1138;ExcessHet=0;FS=3.223;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=39.74;MQRankSum=0.203;QD=27.61;ReadPosRankSum=2.01;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,33:48:99:0|1:32580272_T_C:1336,0,531:32580272	8	0	1	1
chr6	56640283	56640283	G	C	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon4:c.C739G:p.P247A,DST:NM_015548:exon4:c.C739G:p.P247A,DST:NM_001374729:exon14:c.C1717G:p.P573A,DST:NM_001374730:exon14:c.C1717G:p.P573A,DST:NM_183380:exon14:c.C1717G:p.P573A,DST:NM_001144770:exon15:c.C1837G:p.P613A,DST:NM_001144769:exon17:c.C2251G:p.P751A,DST:NM_001374722:exon18:c.C2350G:p.P784A,DST:NM_001374734:exon18:c.C2377G:p.P793A,DST:NM_001374736:exon18:c.C2350G:p.P784A	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	2	1475	43	2	0	47	0.0156823	.	.	.	308408	DST-related_disorder|Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided|Inborn_genetic_diseases	.|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.033	.	0.0018	0.00299521	0.0033	0.0004	0.0012	0	0.0002	0.0030	0.0022	0.0107	0.0031177	482	154602	rs151271595	0.0028	0.0028	0.0025	0.0030	0.0102	0.0027	0.0027	0.0096	0.0094	0.0006	0.0014	0.0029	2.519e-05	0.0004	0.0095	0.0024	0.0033	0.0102	0.0018	0.0018	0.0017	0.0019	0.0097	0.0016	0.0016	0.0075	0.0067	0.0006	0	0.0023	0.0037	0.0002	0	0.0034	0.0022	0.0038	0.0097	0.052	0.52492	T	0.429	0.17217	T	0.023	0.25584	B	0.029	0.28327	B	0.073886	0.21317	N	0.395716	.	.	.	1.24	0.30952	L	1.06	0.82715	T	-1.84	0.59545	N	0.124	0.18512	-1.0564	0.12672	T	0.133	0.44661	T	9	0.0032327473	0.00055	T	.	.	.	0.033	0.08068	.	.	0.366092821824	0.36220	0.3893332817011348	0.38848	0.139746512027	0.15750	0.298681229353	0.10204	T	0.010347	0.16227	T	-0.41251	0.01913	T	-0.357357	0.38358	T	0.00171214513294426	0.00017	T	0.842416	0.51891	T	.	.	.	.	.	.	.	.	-4.492	0.30784	T	.	.	0.061	0.01143	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.025952	0.14055	10.63	0.74773530716296321	0.10821	0.50708	0.28725	D	AEFDGBHCI	0.156510	0.28188	N	-0.715540201429122	0.15585	0.7867031	-0.601513759295084	0.19453	1.043817	0.999999734906887	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.95	1.56	0.22423	0.441000	0.21325	1.420000	0.26356	0.676000	0.76740	0.773000	0.29391	0.931000	0.28545	0.995000	0.73285	0.0:0.3053:0.1732:0.5215	7.512	0.26746	314	0.87270	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.000000	0.008152	0.011696	0.000000	0.000000	0.012195	0.015152	0.1	3423.14	34	chr6	56640283	.	G	C	3423.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.752;DP=572;ExcessHet=0.2348;FS=1.971;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=2.04;SOR=0.819	GT:AD:DP:GQ:PL	0/1:63,65:128:99:1721,0,1745	8	0	2	0
chr6	131808026	131808026	C	T	UTR5	ENPP1	NM_006208:c.-10C>T	.	.	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	952	564	4	2	0	8	0.00704225	.	.	.	190498	Hypophosphatemic_rickets,_autosomal_recessive,_2|Arterial_calcification,_generalized,_of_infancy,_1|not_specified|not_provided	MONDO:MONDO:0013219,MedGen:C2750078,OMIM:613312,Orphanet:289176|MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	0.0043415	113	26028	rs750410843	0.0379	0.0171	0.0378	0.0379	0.0450	0.0374	0.0372	0.0389	0.0387	0.0053	0.0295	0.0099	0	0.0462	0.0450	0.0393	0.0356	0.0224	0.0256	0.0232	0.0249	0.0263	0.0516	0.0247	0.0244	0.0471	0.0453	0.0062	0.0661	0.0516	0.0061	0.0007	0.0793	0.1061	0.0312	0.0306	0.0277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	170.4	.	chr6	131808026	.	C	T	170.4	.	AC=2;AF=0.2;AN=10;DP=17;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.3;MQ=60;QD=28.4;SOR=1.329	GT:AD:DP:GQ:PL	1/1:0,6:6:18:183,18,0	4	1	0	5
chr6	131847857	131847860	GTGT	-	intronic	ENPP1	.	.	.	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	64	102	8	11	41	71	0.128205	.	.	.	306033	not_provided|Hypophosphatemic_Rickets,_Recessive|Arterial_calcification,_generalized,_of_infancy,_1|not_specified	MedGen:C3661900|MedGen:CN239452|MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs373838049	0.0474	0.0578	0.0472	0.0476	0.1058	0.0471	0.0469	0.1024	0.1009	0.1058	0.0777	0.0304	0.0231	0.0959	0.0366	0.0445	0.0483	0.0343	0.0671	0.0670	0.0676	0.0665	0.1205	0.0659	0.0654	0.1175	0.1162	0.1205	0.0594	0.0647	0.0210	0.0188	0.0760	0.0654	0.0467	0.0560	0.0120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1937.08	19	chr6	131847856	.	GGTGT	G	1937.08	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.067;DP=332;ExcessHet=15.1594;FS=4.66;InbreedingCoeff=-0.7711;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.176;SOR=1.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,8:19:99:.:.:300,0,404:.	9	0	1	0
chr6	152391580	152391580	-	AAAAAA	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299476	Cerebellar_ataxia|not_provided|Emery-Dreifuss_muscular_dystrophy	Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MedGen:CN517202|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0692	0.0572	0.0446	0.1472	0.0524	0.0572	0.0842	0.1106	0.0001921	5	26028	rs768125041	0.1080	0.1249	0.1087	0.1074	0.2456	0.1075	0.1073	0.2409	0.2389	0.0980	0.0497	0.0906	0.2456	0.0967	0.0955	0.1050	0.1115	0.1270	0.1623	0.1700	0.1628	0.1618	0.3566	0.1604	0.1596	0.3411	0.3349	0.1644	0.1811	0.1235	0.1686	0.3566	0.1421	0.1619	0.1554	0.1614	0.1968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4134.5	65	chr6	152391580	.	G	GAAAAAA	4134.5	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.283;DP=367;ExcessHet=0.0405;FS=2.339;InbreedingCoeff=0.3543;MLEAC=8;MLEAF=0.4;MQ=59.98;MQRankSum=0;QD=23.49;ReadPosRankSum=0.571;SOR=0.876	GT:AD:DP:GQ:PL	0/1:0,6:22:68:1012,226,146	3	1	6	0
chr6	159692840	159692840	A	G	exonic	SOD2	.	nonsynonymous SNV	SOD2:NM_000636:exon2:c.T47C:p.V16A,SOD2:NM_001024465:exon2:c.T47C:p.V16A,SOD2:NM_001024466:exon2:c.T47C:p.V16A,SOD2:NM_001322814:exon2:c.T47C:p.V16A,SOD2:NM_001322815:exon2:c.T47C:p.V16A,SOD2:NM_001322816:exon2:c.T47C:p.V16A	.	426	313	516	267	0	1050	0.626492	.	.	.	29790	SOD2_POLYMORPHISM|Microvascular_complications_of_diabetes,_susceptibility_to,_6	.|MONDO:MONDO:0012970,MedGen:C2675128,OMIM:612634	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.048	.	0.4731	0.410743	0.5024	0.4521	0.6492	0.1596	0.5033	0.5162	0.4902	0.5375	0.0001153	3	26028	rs4880	0.4921	0.4920	0.4930	0.4912	0.6131	0.4912	0.4908	0.6070	0.6045	0.4286	0.6131	0.5060	0.1309	0.4807	0.4419	0.5013	0.4763	0.5191	0.4704	0.4704	0.4750	0.4656	0.5368	0.4675	0.4663	0.5271	0.5231	0.4245	0.4901	0.5368	0.5193	0.1435	0.4668	0.4658	0.5033	0.4693	0.5118	0.926	0.09806	T	0.979	0.20680	T	0.024	0.19075	B	0.014	0.16862	B	0.003125	0.35389	N	0.321860	1	0.28987	P	.	.	.	2.8	0.17923	T	0.35	0.06138	N	0.034	0.02964	-0.9308	0.44021	T	0.008	0.02679	T	8	3.9671322e-05	0.00008	T	.	.	.	0.048	0.13305	.	.	.	.	0.24148455001478597	0.24062	0.559626915364	0.52497	0.639073014259	0.58432	T	0.006216	0.10632	T	-0.680986	0.00047	T	-0.607145	0.12218	T	0.00926767202390716	0.00118	T	0.00962761	0.00101	T	0.019719824	0.00509	0.04335931	0.05377	0.019719824	0.00508	0.04335931	0.05376	-2.567	0.10127	T	.	.	0.065	0.07412	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.792224	0.11628	8.214	0.81617120455707348	0.13775	0.13403	0.17836	N	ALL	0.032084	0.03557	N	-0.854084909372284	0.11949	0.5796162	-0.812104859326894	0.14202	0.7408959	0.999999999993235	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.9	3.08	0.34576	2.202000	0.42377	4.081000	0.41738	-0.176000	0.10722	0.649000	0.28163	0.999000	0.35428	0.111000	0.18785	0.1374:0.121:0.7416:0.0	9.062	0.35603	725	0.54935	.;.;.;.;.;.;.;.	RP3-393E18.2|MRPL18|RP3-393E18.2|WTAP|MRPL18|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|MRPL18|PNLDC1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2|ACAT2|MRPL18|MRPL18|RP3-393E18.2|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|MRPL18|SOD2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|ACAT2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|RP3-393E18.2|HNRNPH1P1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Hippocampus|Brain_Hippocampus|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood	SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|MRPL18	Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis	rs4880	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	0.440524	0.429293	0.388587	0.514620	0.650000	0.439655	0.429448	0.477273	0.6	11125.0	60	chr6	159692840	.	A	G	11125.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=2.36;DP=635;ExcessHet=2.8549;FS=0.649;InbreedingCoeff=-0.25;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=0.536;SOR=0.811	GT:AD:DP:GQ:PL	0/1:37,32:69:99:906,0,1060	1	3	6	0
chr7	21867834	21867834	-	T	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	5	243	697	577	0	1851	0.792041	.	.	.	195811	Primary_ciliary_dyskinesia_7|DNAH11-related_disorder|not_provided	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5730	0.033746	0.6045	0.2099	0.5787	0.4320	0.7077	0.7382	0.6483	0.5081	0.0130593	2019	154602	rs5882827	0.6962	0.6889	0.7006	0.6917	0.7467	0.6950	0.6946	0.7453	0.7447	0.1630	0.5066	0.7145	0.3626	0.7006	0.6058	0.7467	0.6467	0.4931	0.5446	0.5436	0.5484	0.5405	0.7376	0.5414	0.5401	0.7322	0.7299	0.1879	0.7073	0.5525	0.7209	0.3473	0.7068	0.5959	0.7376	0.5801	0.4740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	31574.0	113	chr7	21867834	.	G	GT	31574.0	.	AC=15;AF=0.75;AN=20;BaseQRankSum=-0.42;DP=933;ExcessHet=0.2065;FS=0;InbreedingCoeff=0.2;MLEAC=15;MLEAF=0.75;MQ=60;MQRankSum=0;QD=32.21;ReadPosRankSum=-0.799;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,97:97:99:1|1:21867834_G_GT:4255,291,0:21867834	1	6	3	0
chr7	30633897	30633898	AA	-	UTR3	GARS1	NM_001316772:c.*37_*38delAA;NM_002047:c.*37_*38delAA	.	.	.	338	128	20	2	1034	1058	0.0857143	.	.	.	311092	Peripheral_axonal_neuropathy|not_provided|Distal_spinal_muscular_atrophy|Charcot-Marie-Tooth_disease_type_2	Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857|MedGen:C3661900|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1458	0.1444	0.1211	0.1934	0.0825	0.1342	0.1377	0.1975	0.001921	50	26028	rs1264036389	0.1231	0.1309	0.1212	0.1251	0.1942	0.1226	0.1224	0.1901	0.1884	0.1278	0.0990	0.1304	0.1942	0.0985	0.1716	0.1165	0.1342	0.1800	0.1053	0.1040	0.1039	0.1069	0.2053	0.1039	0.1033	0.1943	0.1899	0.1248	0.0146	0.0971	0.0960	0.1870	0.0699	0.1181	0.0886	0.1355	0.2053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3364.4	36	chr7	30633896	.	TAA	T	3364.4	.	AC=3;AF=0.167;AN=18;BaseQRankSum=1.31;DP=304;ExcessHet=0.8432;FS=0;InbreedingCoeff=-0.0036;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=18.69;ReadPosRankSum=-0.306;SOR=0.802	GT:AD:DP:GQ:PL	1/0:5,13:25:37:449,37,181	7	1	1	1
chr7	30633897	30633897	A	-	UTR3	GARS1	NM_001316772:c.*37delA;NM_002047:c.*37delA	.	.	.	.	.	.	.	.	.	.	.	.	.	311094	Peripheral_axonal_neuropathy|not_provided|Distal_spinal_muscular_atrophy|Charcot-Marie-Tooth_disease_type_2	Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857|MedGen:C3661900|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4340	0.3441	0.4374	0.3782	0.4914	0.4724	0.4415	0.3535	0.0001153	3	26028	rs70983380	0.4481	0.4561	0.4506	0.4455	0.4627	0.4470	0.4466	0.4612	0.4607	0.3255	0.4260	0.4633	0.3725	0.4512	0.4627	0.4624	0.4401	0.3583	0.5853	0.5832	0.5905	0.5799	0.6886	0.5820	0.5807	0.6833	0.6812	0.4015	0.7719	0.5987	0.7201	0.4922	0.6382	0.6586	0.6886	0.5897	0.4457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	3364.4	36	chr7	30633896	.	TA	T	3364.4	.	AC=12;AF=0.667;AN=18;BaseQRankSum=1.31;DP=304;ExcessHet=0.8432;FS=0;InbreedingCoeff=-0.0036;MLEAC=11;MLEAF=0.611;MQ=60;MQRankSum=0;QD=18.69;ReadPosRankSum=-0.306;SOR=0.802	GT:AD:DP:GQ:PL	0/1:5,7:25:37:449,210,283	1	4	4	1
chr7	74053321	74053322	TG	-	intronic	ELN	.	.	.	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	303342	Cutis_laxa,_autosomal_dominant|not_provided|Supravalvar_aortic_stenosis	MONDO:MONDO:0019571,MedGen:C0268350,Orphanet:90348|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0481	0.0686	0.0344	0.0563	0.0396	0.0402	0.0484	0.0643	0.0295662	4571	154602	rs781811385	0.0510	0.0565	0.0508	0.0513	0.1009	0.0507	0.0506	0.0980	0.0968	0.1009	0.0498	0.0423	0.0930	0.0625	0.0521	0.0466	0.0556	0.0644	0.0472	0.0476	0.0460	0.0485	0.0883	0.0463	0.0459	0.0859	0.0849	0.0883	0.0180	0.0411	0.0304	0.0554	0.0424	0.0248	0.0256	0.0467	0.0503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	36608.1	201	chr7	74053320	.	CTG	C	36608.1	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.065;DP=2046;ExcessHet=0.7463;FS=3.148;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=28.6;ReadPosRankSum=0.379;SOR=0.39	GT:AD:DP:GQ:PL	0/1:60,45:112:99:1054,0,1321	9	0	1	0
chr7	92499848	92499849	AA	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	6	11	58	125	26	334	0.933333	.	.	.	191766	not_provided|not_specified|Peroxisome_biogenesis_disorder_1A_(Zellweger)|Zellweger_spectrum_disorders	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1286	0.0604	0.1169	0.0878	0.0643	0.1272	0.1007	0.2324	0.0003458	9	26028	rs769875811	0.0771	0.1651	0.0762	0.0779	0.1028	0.0766	0.0764	0.1005	0.0995	0.0376	0.0805	0.0777	0.0503	0.0821	0.0547	0.0775	0.0760	0.1028	0.0033	0.0055	0.0035	0.0031	0.0048	0.0031	0.0030	0.0043	0.0042	0.0012	0	0.0035	0.0006	0.0002	0.0065	0	0.0048	0.0025	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	8843.54	65	chr7	92499847	.	CAA	C	8843.54	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.302;DP=600;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=-0.041;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,6:42:44:.:.:1087,885,891:.	9	0	1	0
chr7	92499848	92499848	A	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303594	Peroxisome_biogenesis_disorder_1B|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder|Heimler_syndrome_1	MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MedGen:C4551980,OMIM:234580,Orphanet:3220	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6319	0.5664	0.6158	0.6094	0.7255	0.6498	0.6654	0.5841	0.0003458	9	26028	rs5885806	0.5851	0.5925	0.5867	0.5836	0.6467	0.5840	0.5835	0.6280	0.6204	0.5100	0.5557	0.5589	0.5474	0.5831	0.6467	0.5926	0.5761	0.5680	0.7451	0.7412	0.7444	0.7459	0.8506	0.7414	0.7399	0.8285	0.8195	0.6243	0.8190	0.7682	0.7791	0.6893	0.7818	0.7778	0.7999	0.7537	0.8506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	8843.54	65	chr7	92499847	.	CA	C	8843.54	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.302;DP=600;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=-0.041;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,36:42:44:.:.:1087,167,44:.	0	3	7	0
chr7	103989356	103989356	-	GCCGCC	UTR5	RELN	NM_173054:c.-1_0insGGCGGC;NM_005045:c.-1_0insGGCGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	74	331	411	457	249	1574	0.666834	.	.	.	135555	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|Lissencephaly,_Recessive|not_provided|not_specified	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:CN239458|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.604233	0.0752	0.0333	0.0078	0.0295	0.0487	0.0216	0.1337	0.2712	0.0001153	3	26028	rs587780434	0.4279	0.4210	0.4270	0.4288	0.6345	0.4270	0.4266	0.6265	0.6232	0.4306	0.2776	0.3620	0.6345	0.3927	0.4386	0.4227	0.4408	0.5133	0.5219	0.5255	0.5206	0.5232	0.7433	0.5188	0.5175	0.7227	0.7143	0.5155	0.4234	0.5423	0.4904	0.7433	0.5017	0.5647	0.5012	0.5010	0.6741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	20378.1	48	chr7	103989356	.	T	TGCCGCC	20378.1	.	AC=18;AF=0.9;AN=20;BaseQRankSum=-1.13;DP=765;ExcessHet=0;FS=3.324;InbreedingCoeff=-0.0526;MLEAC=18;MLEAF=0.9;MQ=60;MQRankSum=0;QD=29.37;ReadPosRankSum=-1.003;SOR=1.289	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2771,188,0	1	9	0	0
chr7	127611134	127611134	T	G	exonic	PAX4	.	nonsynonymous SNV	PAX4:NM_001366110:exon12:c.A986C:p.H329P	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	2	82	476	962	0	2400	0.936037	.	.	.	135324	Maturity_onset_diabetes_mellitus_in_young|not_specified|Type_2_diabetes_mellitus|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|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	.	.	.	.	.	.	.	.	0.161	.	0.7689	0.670527	0.7578	0.7322	0.7423	0.4202	0.7684	0.8044	0.7467	0.7554	0.725301	112133	154602	rs712701	0.7674	0.7670	0.7682	0.7667	0.8259	0.7662	0.7657	0.8061	0.7980	0.7074	0.7284	0.8786	0.3413	0.7310	0.8259	0.7867	0.7670	0.7429	0.7435	0.7432	0.7492	0.7375	0.7833	0.7398	0.7383	0.7778	0.7755	0.7148	0.7971	0.7502	0.8839	0.3684	0.7200	0.8605	0.7833	0.7431	0.7408	0.408	0.10212	T	0.219	0.30729	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20581	P	.	.	.	-3.33	0.93928	D	1.39	0.01213	N	0.081	0.05670	-0.9663	0.37954	T	0.000	0.00011	T	8	1.1978148e-06	0.00003	T	.	.	.	0.161	0.41658	.	.	.	.	0.12102702557250804	0.12029	0.0698190254373	0.07817	0.26767089963	0.05839	T	.	.	.	-0.571133	0.00218	T	-0.44935	0.27768	T	0.00134707249194439	0.00013	T	0.183282	0.01882	T	.	.	.	.	.	.	.	.	-1.39	0.01553	T	.	.	0.044	0.00041	B	.;.;.	.;.;.	-0.145898	0.03378	0.604	0.11202797598852418	0.00162	0.00036	0.00313	N	AEFBI	0.024692	0.01571	N	-1.36829045637932	0.02940	0.130581	-1.45169956986729	0.02755	0.1272828	0.358955711383461	0.19758	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.74	-3.35	0.04620	-1.259000	0.02970	0.781000	0.21481	-0.295000	0.06246	0.000000	0.06391	0.952000	0.29052	0.007000	0.07825	0.498:0.1222:0.2554:0.1244	2.721	0.04879	0	0.99858	.;.;.	SND1|SND1|SND1|SND1|LRRC4|GCC1|GCC1|SND1|GCC1|GCC1	Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Spinal_cord_cervical_c-1|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs712701	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	0.814271	0.836735	0.841033	0.835294	0.750000	0.793103	0.754601	0.746154	0.9	34657.8	124	chr7	127611134	.	T	G	34657.8	.	AC=18;AF=0.9;AN=20;BaseQRankSum=1.15;DP=1270;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=18;MLEAF=0.9;MQ=60;MQRankSum=0;QD=28.02;ReadPosRankSum=1.9;SOR=0.726	GT:AD:DP:GQ:PL	0/1:61,60:121:99:1539,0,1535	0	8	2	0
chr7	131505863	131505863	C	T	intronic	PODXL	.	.	.	.	.	.	.	.	.	.	.	0.6426	0.532	.	2137883	PODXL-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0001	0	0	0.0022	0	0	0	0	0.0001229	19	154602	rs201551993	2.992e-05	3.42e-05	2.532e-05	3.464e-05	0.0009	2.24e-05	1.987e-05	0.0007	0.0006	0	0	0	0.0009	0	0	9.242e-07	8.58e-05	3.769e-05	6.566e-05	6.562e-05	3.854e-05	9.4e-05	0.0015	3.514e-05	2.614e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1481.98	80	chr7	131505863	.	C	T	1481.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.554;DP=868;ExcessHet=10.3881;FS=183.687;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.05;ReadPosRankSum=1.52;SOR=10.796	GT:AD:DP:GQ:PL	0/1:76,26:102:99:102,0,1391	2	0	8	0
chr7	140734797	140734797	-	A	intronic	BRAF	.	.	.	Adenocarcinoma of lung, somatic;Cardiofaciocutaneous syndrome, Autosomal dominant;Colorectal cancer, somatic (3);LEOPARD syndrome 3, Autosomal dominant;Melanoma, malignant, somatic (3);Nonsmall cell lung cancer, somatic (3);Noonan syndrome 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	302001	not_specified|Noonan_syndrome_with_multiple_lentigines|Noonan_syndrome|Cardio-facio-cutaneous_syndrome	MedGen:CN169374|MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:500|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.8742	0.7482	0.9238	0.9181	0.8901	0.8737	0.8776	0.8631	0.0001153	3	26028	rs397813649	0.8401	0.7641	0.8452	0.8349	0.8519	0.8386	0.8379	0.8502	0.8495	0.6242	0.8409	0.8259	0.8332	0.8231	0.8187	0.8519	0.8244	0.7675	0.8154	0.7916	0.8130	0.8183	0.8832	0.8111	0.8093	0.8681	0.8619	0.6770	0.7105	0.8832	0.8663	0.8820	0.8731	0.8107	0.8558	0.8501	0.8560	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6875	1383.42	6	chr7	140734797	.	G	GA	1383.42	.	AC=11;AF=0.688;AN=16;BaseQRankSum=0;DP=80;ExcessHet=0;FS=0;InbreedingCoeff=0.3465;MLEAC=11;MLEAF=0.688;MQ=60;MQRankSum=0;QD=36.48;ReadPosRankSum=0.674;SOR=2.226	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,3:3:9:.:.:86,9,0:.	2	5	1	2
chr7	142750561	142750561	C	T	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.C47T:p.A16V	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	788	734	0	0	734	0.317749	.	.	YES	46925	not_provided|Recurrent_pancreatitis|Hereditary_pancreatitis	MedGen:C3661900|Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.524	.	.	.	0.0160	0.0479	0.0047	0.0021	0.0128	0.0164	0.0210	0.0113	0.0135833	2100	154602	rs202003805	0.2021	0.3260	0.1994	0.2049	0.3871	0.2013	0.2010	0.3798	0.3768	0.3871	0.3293	0.2961	0.1035	0.3682	0.1866	0.1904	0.2197	0.1188	0.3862	0.4088	0.3910	0.3812	0.4582	0.3832	0.3820	0.4521	0.4495	0.4582	0.3653	0.3885	0.3815	0.1497	0.3882	0.3266	0.3733	0.3802	0.2128	0.566	0.06502	T	0.351	0.19721	T	0.0	0.02946	B	0.002	0.06944	B	0.018559	0.27457	N	0.446479	0.985655	0.24690	N	0.625	0.15840	N	-3.17	0.93054	D	-0.01	0.07155	N	0.072	0.08366	-0.5774	0.65720	T	0.542	0.83122	D	10	0.0054525733	0.00120	T	.	.	.	0.524	0.79825	.	.	.	.	0.5690087331218414	0.56828	0.162344706958	0.18315	0.232086211443	0.02126	T	0.208591	0.56856	T	0.119743	0.66346	D	-0.0657736	0.65926	T	0.0260900631546974	0.01419	T	.	.	.	0.016501123	0.00202	0.035258744	0.02744	0.015689086	0.00152	0.033967946	0.02380	-4.735	0.33824	T	.	.	0.128	0.27373	B	.;.;.	.;.;.	0.257558	0.06365	2.827	0.30547631428140182	0.01676	0.01640	0.05278	N	AEFDBI	0.139100	0.26059	N	-1.28146295350348	0.03898	0.1749983	-1.30565312385982	0.04356	0.2053128	0.136983366606344	0.17200	0.549168	0.22868	0	0.627178	0.54094	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	3.49	0.989	0.18920	0.485000	0.22033	.	.	-1.601000	0.00893	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2125:0.0:0.7875	7.043	0.24210	776	0.48302	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	0.009060	0.025974	0.000000	0.004274	0.062500	0.000000	0.031915	0.008000	0.4	13406.0	34	chr7	142750561	.	C	T	13406.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.94;DP=1250;ExcessHet=10.3881;FS=5.367;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=56.35;MQRankSum=-8.85;QD=11.68;ReadPosRankSum=-0.592;SOR=0.417	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,38:145:99:.:.:1180,0,2766:.	2	0	8	0
chr7	142750675	142750675	A	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.A161G:p.N54S	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1165	357	0	0	357	0.132862	.	.	.	26920	not_specified|Hereditary_pancreatitis	MedGen:CN169374|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.355	.	.	.	0.0354	0.0748	0.0127	0.0043	0.0416	0.0323	0.0528	0.0537	0.0003842	10	26028	rs144422014	0.0485	0.1673	0.0431	0.0541	0.1643	0.0482	0.0480	0.1599	0.1580	0.1117	0.1643	0.1341	0.0273	0.2064	0.0482	0.0386	0.0676	0.0350	0.2790	0.3612	0.2847	0.2732	0.3794	0.2760	0.2748	0.3726	0.3698	0.3794	0.2481	0.2697	0.2695	0.0620	0.2849	0.1951	0.2592	0.2679	0.0988	0.448	0.09075	T	0.623	0.13912	T	0.0	0.02946	B	0.001	0.04355	B	0.001478	0.38917	N	0.304664	6.371e-07	0.08975	A	-0.23	0.03940	N	-2.87	0.91478	D	-1.05	0.28290	N	0.04	0.03726	-0.6892	0.60945	T	0.247	0.61600	T	9	0.0784502	0.12504	T	.	.	.	0.355	0.67600	.	.	.	.	0.5012227439210316	0.50044	0.128612980855	0.14499	0.257050007582	0.04546	T	0.49228	0.81630	T	-0.0785813	0.39944	T	-0.350653	0.39129	T	0.0736112371087074	0.09149	T	.	.	.	0.2644275	0.49510	0.109853335	0.26482	0.094889425	0.22319	0.06812106	0.14182	-6.432	0.49759	T	.	.	0.070	0.03698	B	.;.;.;.	.;.;.;.	-2.080381	0.00084	0.001	0.26841523162452846	0.01304	0.01504	0.04979	N	AEFDBI	0.151876	0.27644	N	-1.8369064160701	0.00461	0.0198398	-1.85065327251252	0.00610	0.02711572	0.9475443675706	0.27758	0.549168	0.22868	0	0.563428	0.19063	0	0.574621	0.27300	0	0.616125	0.45549	0	.	.	3.49	-6.32	0.01820	-1.848000	0.01766	.	.	-3.345000	0.00094	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4768:0.1255:0.3977:0.0	6.959	0.23768	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.012835	0.027778	0.002740	0.013043	0.222222	0.000000	0.014184	0.021186	0.4	5181.98	34	chr7	142750675	.	A	G	5181.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.31;DP=1220;ExcessHet=10.3881;FS=2.471;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=58.2;MQRankSum=-8.832;QD=4.55;ReadPosRankSum=-2.684;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,15:139:99:0|1:142750672_T_A:251,0,5113:142750672	2	0	8	0
chr7	142750680	142750680	C	T	exonic	PRSS1	.	stopgain	PRSS1:NM_002769:exon2:c.C166T:p.Q56X	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1242	280	0	0	280	0.101302	.	.	.	933720	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0318	0.0685	0.0106	0.0041	0.0339	0.0291	0.0474	0.0480	0.0003074	8	26028	rs147366981	0.0267	0.1326	0.0229	0.0307	0.0653	0.0265	0.0263	0.0624	0.0612	0.0570	0.0653	0.0663	0.0176	0.1422	0.0264	0.0220	0.0394	0.0170	0.2451	0.3472	0.2492	0.2408	0.3469	0.2422	0.2410	0.3402	0.3375	0.3469	0.2122	0.2373	0.2308	0.0477	0.2609	0.1513	0.2221	0.2305	0.0781	.	.	.	.	.	.	.	.	.	.	.	.	0.016899	0.27861	N	0.410325	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.711	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416393	0.90831	D	0.360343	0.90716	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.	High;.;.;.	4.129577	0.61790	24.4	0.99516745074967428	0.68979	0.11811	0.16877	N	AEFDBI	0.295314	0.40546	N	0.145216833814894	0.48585	3.069039	-0.169272407184608	0.32673	1.861256	0.255023528038656	0.18723	0.549168	0.22868	0	0.563428	0.19063	0	0.574621	0.27300	0	0.616125	0.45549	0	.	.	3.49	2.59	0.30091	0.110000	0.15273	.	.	-2.564000	0.00244	0.000000	0.06391	0.002000	0.18203	0.002000	0.04165	0.0:0.8252:0.1747:0.0	12.188	0.53561	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	4442.98	34	chr7	142750680	.	C	T	4442.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.531;DP=1173;ExcessHet=10.3881;FS=2.575;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=58.26;MQRankSum=-9.819;QD=4.09;ReadPosRankSum=-2.975;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,12:129:99:0|1:142750672_T_A:152,0,4848:142750672	2	0	8	0
chr7	142752476	142752476	G	C	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon4:c.G500C:p.S167T	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	495	1027	0	0	1027	0.509172	.	.	.	1044764	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.289	0.0561978714716	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232891794	0.2545	0.3268	0.2490	0.2598	0.3691	0.2536	0.2533	0.3636	0.3614	0.2301	0.3691	0.3339	0.1146	0.3574	0.2639	0.2514	0.2503	0.2264	0.4061	0.4174	0.4095	0.4025	0.4695	0.4032	0.4020	0.4636	0.4612	0.4695	0.3848	0.4099	0.4028	0.1747	0.4131	0.3359	0.3953	0.3970	0.2476	0.157	0.23997	T	0.098	0.39040	T	0.0	0.07471	B	0.01	0.14941	B	0.083030	0.20775	N	0.574518	1	0.08975	N	1.445	0.36358	L	-3.32	0.93882	D	-2.14	0.48523	N	0.225	0.25622	-0.1577	0.78727	T	0.698	0.89598	D	10	0.23140222	0.40113	T	0.056198	0.66515	D	0.289	0.60808	0.642	0.77903	0.527610103971	0.52408	0.7123115361635766	0.71173	0.155586269279	0.17559	0.440457701683	0.30639	T	0.578285	0.86150	D	-0.00289087	0.51255	T	-0.241929	0.50610	T	0.0861879674086316	0.10760	T	.	.	.	0.1717769	0.37831	0.16736849	0.38616	0.1717769	0.37831	0.16736849	0.38615	-3.967	0.23308	T	.	.	0.124	0.29172	B	.;.;.;.	.;.;.;.	-0.119171	0.03530	0.672	0.49745973133581234	0.04263	0.00742	0.03097	N	AEFBI	0.279347	0.39342	N	-1.33556641628984	0.03277	0.1461073	-1.43646429030785	0.02895	0.1340265	4.17954976400154E-4	0.06899	0.446893	0.09132	0	0.457222	0.06608	2	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	-1.85	0.07363	0.606000	0.23891	.	.	-1.515000	0.01011	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6816:0.3184:0.0	15.926	0.79405	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	17543.0	33	chr7	142752476	.	G	C	17543.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.613;DP=2065;ExcessHet=10.3881;FS=1.925;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=58.33;MQRankSum=-9.62;QD=9.02;ReadPosRankSum=0.138;SOR=0.562	GT:AD:DP:GQ:PL	0/1:184,41:225:99:1038,0,5299	2	0	8	0
chr7	142752950	142752950	A	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon5:c.A674G:p.K225R	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1276	246	0	0	246	0.0879199	.	.	.	489825	not_provided|Hereditary_pancreatitis|not_specified	MedGen:C3661900|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.241	0.0563907113932	.	0.000199681	4.12e-05	9.638e-05	0	0.0002	0	0	0	0.0001	0.0026126	68	26028	rs541223359	0.0001	0.0444	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0.0002	8.039e-05	0.0001	0.0001	0.0003	0.0002	0.0001	0.0002	0.0003	0.0625	0.2471	0.0635	0.0614	0.1148	0.0610	0.0604	0.1107	0.1090	0.1148	0.0323	0.0683	0.0422	0.0110	0.0760	0.0427	0.0445	0.0571	0.0198	0.48	0.09572	T	0.352	0.17372	T	0.0	0.02946	B	0.002	0.06944	B	0.436750	0.12679	N	0.782790	0.999998	0.08975	N	0.355	0.11969	N	-2.38	0.88298	D	-1.0	0.26422	N	0.087	0.07125	-0.7748	0.56592	T	0.356	0.71850	T	10	0.07178062	0.10627	T	0.056391	0.66588	D	0.241	0.54641	.	.	0.459642846412	0.45589	0.5199644332738709	0.51919	0.132481952341	0.14936	0.202874571085	0.00545	T	0.394159	0.75337	T	-0.0844771	0.38985	T	-0.359122	0.38153	T	0.00933494863009668	0.00119	T	.	.	.	0.111516565	0.26353	0.10829246	0.26085	0.111516565	0.26353	0.10829246	0.26084	-3.264	0.13277	T	.	.	0.104	0.18746	B	.;.;.	.;.;.	-1.224358	0.00507	0.011	0.38899255705893293	0.02652	0.04907	0.10657	N	AEFBI	0.190157	0.31739	N	-1.77807229907533	0.00601	0.02589842	-1.78133773023897	0.00821	0.03665607	0.00183854746915247	0.08930	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.18	-4.1	0.03674	0.006000	0.13051	.	.	-2.707000	0.00208	0.000000	0.06391	0.000000	0.08366	0.369000	0.26088	0.6101:0.0:0.2543:0.1356	4.484	0.11193	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	1072.04	33	chr7	142752950	.	A	G	1072.04	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.65;DP=1881;ExcessHet=1.5895;FS=2.199;InbreedingCoeff=-0.2611;MLEAC=4;MLEAF=0.2;MQ=58.98;MQRankSum=-12.46;QD=1.2;ReadPosRankSum=-4.179;SOR=1.237	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,17:248:18:0|1:142752947_A_G:18,0,9616:142752947	6	0	4	0
chr8	6445112	6445112	G	A	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172575:exon7:c.G1246A:p.V416I,MCPH1:NM_001172574:exon8:c.G1390A:p.V464I,MCPH1:NM_001322042:exon8:c.G1390A:p.V464I,MCPH1:NM_001322043:exon8:c.G1384A:p.V462I,MCPH1:NM_001322045:exon8:c.G1288A:p.V430I,MCPH1:NM_001363979:exon8:c.G1390A:p.V464I,MCPH1:NM_001363980:exon8:c.G1390A:p.V464I,MCPH1:NM_024596:exon8:c.G1390A:p.V464I	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	899936	Microcephaly_1,_primary,_autosomal_recessive|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512,Orphanet:52183|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.006	0.00274249407825	.	0.00159744	0.0004	0	8.645e-05	0.0002	0	0	0.0022	0.0024	0.0003428	53	154602	rs531526435	0.0002	0.0002	0.0001	0.0002	0.0025	0.0002	0.0002	0.0023	0.0021	5.974e-05	0	0	0.0002	0	0.0003	1.349e-05	0.0002	0.0025	0.0001	0.0001	0.0001	0.0001	0.0027	6.509e-05	5.321e-05	0.0016	0.0013	4.812e-05	0	6.537e-05	0	0	0	0	0	0	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.823533	0.09160	N	0.922363	1	0.08975	N	0.57	0.15267	N	3.19	0.07353	T	0.27	0.04306	N	0.043	0.01658	-0.9228	0.45168	T	0.008	0.02926	T	10	0.0034584403	0.00061	T	0.002742	0.05665	T	0.006	0.00375	0.143	0.04650	0.255777322467	0.25185	0.04598565669642853	0.04542	.	.	0.235667839646	0.02414	T	0.05405	0.29613	T	-0.746068	0.00019	T	-0.850309	0.00955	T	0.0100663501184015	0.00135	T	.	.	.	0.017316908	0.00263	0.017646225	0.00036	0.017316908	0.00263	0.017646225	0.00036	-3.513	0.16614	T	.	.	0.071	0.04847	B	.;.;.	.;.;.	-0.758350	0.01191	0.058	0.25403568315035979	0.01169	0.00324	0.01698	N	AEFBI	0.011558	0.00105	N	-1.64797043777782	0.01044	0.04526822	-1.64718870794519	0.01390	0.06282937	0.978832305703481	0.29963	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	-4.88	0.02884	-0.942000	0.04031	-0.202000	0.10935	-1.654000	0.00822	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.2088:0.5175:0.1571:0.1166	4.098	0.09475	975	0.05339	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2346.43	34	chr8	6445112	.	G	A	2346.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.82;DP=542;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=1.73;SOR=0.658	GT:AD:DP:GQ:PL	0/1:75,92:167:99:2358,0,1677	9	0	1	0
chr8	10610127	10610127	-	CCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG:p.E1324_G2392delinsGTKVIEGLQEERVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	2	62	35	14	113	176	0.336898	.	.	.	490785	not_specified|Occult_macular_dystrophy|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019748	514	26028	rs369606728	0.3003	0.2931	0.3009	0.2996	0.3367	0.2994	0.2990	0.3356	0.3352	0.0668	0.1268	0.2984	0.0016	0.2804	0.2689	0.3367	0.2875	0.1937	0.2690	0.2723	0.2800	0.2574	0.3823	0.2665	0.2655	0.3781	0.3764	0.1017	0.3651	0.1960	0.3263	0.0039	0.2681	0.3259	0.3823	0.2752	0.1849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	87613.7	417	chr8	10610127	.	T	TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	87613.7	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.026;DP=3602;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=8;MLEAF=0.4;MQ=59.68;MQRankSum=-0.183;QD=29.11;ReadPosRankSum=-3.299;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,260:260:99:.:.:8866,750,0:.	4	2	4	0
chr8	11757066	11757066	A	G	exonic	GATA4	.	nonsynonymous SNV	GATA4:NM_001374273:exon5:c.A511G:p.S171G,GATA4:NM_001374274:exon5:c.A385G:p.S129G,GATA4:NM_001308093:exon6:c.A1132G:p.S378G,GATA4:NM_001308094:exon6:c.A511G:p.S171G,GATA4:NM_002052:exon6:c.A1129G:p.S377G	Atrial septal defect 2, Autosomal dominant;Atrioventricular septal defect 4, Autosomal dominant;Tetralogy of Fallot, Autosomal dominant;Ventricular septal defect 1, Autosomal dominant	0	1197	296	29	0	354	0.128821	.	.	.	53501	not_specified|Atrioventricular_septal_defect_4|Cardiovascular_phenotype|Neonatal_insulin-dependent_diabetes_mellitus|not_provided	MedGen:CN169374|MONDO:MONDO:0013747,MedGen:C3280781,OMIM:614430|MedGen:CN230736|Human_Phenotype_Ontology:HP:0000857,MedGen:C3278636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.291	.	0.1006	0.0429313	0.0962	0.0204	0.0407	0.0006	0.1405	0.1354	0.1247	0.0556	0.0944554	14603	154602	rs3729856	0.1117	0.1118	0.1118	0.1117	0.1376	0.1113	0.1111	0.1296	0.1265	0.0198	0.0459	0.1768	0.0002	0.1454	0.1376	0.1224	0.1075	0.0564	0.0885	0.0886	0.0902	0.0868	0.1342	0.0873	0.0868	0.1319	0.1310	0.0210	0.0956	0.0528	0.1842	0.0013	0.1405	0.1054	0.1342	0.0874	0.0487	0.417	0.09927	T	0.466	0.13912	T	0.0	0.02946	B	0.0	0.01387	B	0.051149	0.23008	N	0.470389	0.40175	0.32515	P	-0.205	0.04094	N	-5.31	0.98979	D	-0.39	0.13611	N	0.081	0.10198	-0.3951	0.72181	T	0.047	0.20037	T	9	0.0017141104	0.00021	T	.	.	.	0.291	0.61040	.	.	.	.	0.3989938689426625	0.39814	0.159432105992	0.17994	0.260318040848	0.04929	T	0.240558	0.71923	T	-0.414397	0.01859	T	-0.225751	0.52182	T	0.00155459552687909	0.00016	T	.	.	.	0.044084683	0.06984	0.037932515	0.03553	0.048713792	0.08535	0.042145498	0.04952	-3.894	0.22212	T	.	.	0.064	0.02765	B	.;.;.;.;.	.;.;.;.;.	0.088956	0.04932	1.505	0.97243726085723836	0.33010	0.52098	0.29051	D	AEFDBCI	0.397443	0.47351	N	-0.696719188306403	0.16115	0.8181989	-0.578649529712743	0.20049	1.078522	0.999947408581666	0.47345	0.517182	0.21443	0	0.563428	0.19063	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	5.83	0.906	0.18444	0.363000	0.20037	.	.	-1.227000	0.01331	0.799000	0.29708	0.007000	0.19602	0.104000	0.18471	0.4155:0.1484:0.3085:0.1276	1.707	0.02711	940	0.13648	.;.;.;.;.	NEIL2|FDFT1|NEIL2|FDFT1|NEIL2|NEIL2|NEIL2|BLK|RP11-148O21.6|RP11-148O21.3|RP11-148O21.4|RP11-148O21.2|NEIL2|NEIL2|NEIL2|FDFT1|FDFT1|NEIL2|FDFT1|CTSB|NEIL2|NEIL2|NEIL2|SUB1P1|NEIL2|NEIL2|TDH|FAM167A	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Thyroid|Whole_Blood	FDFT1|FDFT1|NEIL2	Heart_Atrial_Appendage|Lung|Skin_Sun_Exposed_Lower_leg	rs3729856	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.133199	0.126263	0.138965	0.184211	0.100000	0.172414	0.134146	0.075758	0.1	1217.14	33	chr8	11757066	.	A	G	1217.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.074;DP=428;ExcessHet=0.2348;FS=2.154;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=1.36;SOR=0.497	GT:AD:DP:GQ:PL	0/1:45,27:72:99:509,0,1185	8	0	2	0
chr8	31058542	31058542	A	G	exonic	WRN	.	nonsynonymous SNV	WRN:NM_000553:exon2:c.A95G:p.K32R	Werner syndrome, Autosomal recessive	4	1513	5	0	0	5	0.00164962	0.9915	0.7	YES	139162	Werner_syndrome|not_specified|not_provided	MONDO:MONDO:0010196,MedGen:C0043119,OMIM:277700,Orphanet:902|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.105	0.0156390117289	0.0030	0.00119808	0.0037	0.0010	0.0016	0	0.0006	0.0060	0	0.0009	0.0006727	104	154602	rs34477820	0.0039	0.0040	0.0039	0.0040	0.0048	0.0039	0.0038	0.0047	0.0046	0.0007	0.0018	0.0003	5.048e-05	0.0013	0.0012	0.0048	0.0031	0.0009	0.0030	0.0030	0.0035	0.0025	0.0054	0.0028	0.0027	0.0050	0.0048	0.0008	0	0.0027	0.0009	0	0.0005	0.0068	0.0054	0.0019	0.0002	0.017	0.51248	D	0.02	0.58613	D	0.704	0.41950	P	0.277	0.40197	B	0.023392	0.26452	N	0.299988	0.991981	0.23953	N	2.36	0.67893	M	0.59	0.53943	T	-1.58	0.38151	N	0.208	0.23125	-0.9045	0.47504	T	0.152	0.48032	T	10	0.0048146844	0.00102	T	0.015639	0.36485	T	0.105	0.29889	.	.	0.749798479323	0.74753	0.5153133627811298	0.51454	0.27939505312	0.30432	0.373518764973	0.21335	T	0.296694	0.66932	T	-0.439409	0.01304	T	-0.401484	0.33211	T	0.0308317523910558	0.02119	T	0.693931	0.30359	T	0.10012978	0.23639	0.1253447	0.30204	0.10012978	0.23639	0.1253447	0.30203	-4.32	0.28457	T	.	.	0.086	0.10642	B	.	.	4.401468	0.68008	25.2	0.99827197569984416	0.90939	0.98093	0.79538	D	AEFBI	0.390853	0.46952	N	0.155038185658775	0.49051	3.109867	0.149972573789508	0.47139	2.948793	0.999651471211587	0.41424	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.87	3.68	0.41359	5.788000	0.68670	7.800000	0.69123	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.8395:0.0:0.0:0.1605	9.727	0.39508	840	0.37365	.	.	.	.	.	.	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	0.001512	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.05	1271.43	33	chr8	31058542	.	A	G	1271.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.005;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.75;SOR=0.629	GT:AD:DP:GQ:PL	0/1:36,54:90:99:1283,0,749	9	0	1	0
chr8	132480670	132480670	-	C	UTR5	KCNQ3	NM_004519:c.-139_-138insG	.	.	Seizures, benign neonatal, type 2, Autosomal dominant	75	142	3	2	4	11	0.024055	.	.	.	313038	Benign_neonatal_seizures|not_provided|Benign_Neonatal_Epilepsy	MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949|MedGen:C3661900|MedGen:C0270851	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs879019805	0.0992	0.0754	0.0988	0.0996	0.1176	0.0985	0.0982	0.1020	0.0992	0.0987	0.0472	0.0809	0.0113	0.0962	0.1176	0.1002	0.0951	0.1026	0.0916	0.0897	0.0944	0.0887	0.1035	0.0902	0.0896	0.1013	0.1004	0.0952	0.0571	0.0558	0.0762	0.0041	0.0991	0.1106	0.1035	0.0927	0.0911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	1193.31	12	chr8	132480670	.	A	AC	1193.31	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-0.548;DP=121;ExcessHet=0.5456;FS=3.209;InbreedingCoeff=0.0838;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=22.1;ReadPosRankSum=0.515;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,5:11:99:0|1:132480670_A_AC:109,0,237:132480670	7	0	2	1
chr8	143917356	143917356	G	A	exonic	PLEC	.	synonymous SNV	PLEC:NM_201378:exon32:c.C12423T:p.Y4141Y,PLEC:NM_201379:exon32:c.C12399T:p.Y4133Y,PLEC:NM_201380:exon32:c.C12876T:p.Y4292Y,PLEC:NM_201381:exon32:c.C12369T:p.Y4123Y,PLEC:NM_201382:exon32:c.C12465T:p.Y4155Y,PLEC:NM_201383:exon32:c.C12477T:p.Y4159Y,PLEC:NM_201384:exon32:c.C12465T:p.Y4155Y,PLEC:NM_000445:exon33:c.C12546T:p.Y4182Y	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	692380	Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_with_nail_dystrophy|not_provided|PLEC-related_disorder	MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0	0.0003	0.0003	0	0.0001	0.0001876	29	154602	rs773080070	0.0001	0.0001	9.417e-05	0.0001	0.0007	9.898e-05	9.306e-05	0.0002	0.0001	5.974e-05	0.0002	0	0	0.0005	0.0007	8.453e-05	0.0003	0.0002	8.549e-05	8.537e-05	8.997e-05	8.078e-05	0.0002	4.961e-05	3.965e-05	5.288e-05	3.339e-05	0	0	0.0002	0	0	0.0002	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	6949.43	277	chr8	143917356	.	G	A	6949.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.57;DP=2389;ExcessHet=0;FS=1.74;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.933;SOR=0.713	GT:AD:DP:GQ:PL	0/1:282,277:559:99:6961,0,6695	9	0	1	0
chr8	144414965	144414965	G	A	intronic	SLC39A4	.	.	.	Acrodermatitis enteropathica, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	308343	not_provided|Hereditary_acrodermatitis_enteropathica	MedGen:C3661900|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100,Orphanet:37	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0002	9.783e-05	0.0003	0.0008	0	0.0001	0	0.0001	0.0001358	21	154602	rs200693339	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	0.0001	0.0005	0.0005	0.0003	0.0001	0	0.0008	0	0.0003	0.0001	0.0002	0.0002	9.193e-05	9.186e-05	0.0001	6.714e-05	0.0002	5.524e-05	4.362e-05	6.806e-05	5.089e-05	2.406e-05	0	0.0002	0	0.0002	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1866.43	37	chr8	144414965	.	G	A	1866.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.396;DP=523;ExcessHet=0;FS=1.872;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-2.043;SOR=0.742	GT:AD:DP:GQ:PL	0/1:95,80:175:99:1878,0,2209	9	0	1	0
chr9	2622146	2622146	-	CGG	ncRNA_exonic	VLDLR-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	272060	not_specified|Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_1|Congenital_cerebellar_hypoplasia|not_provided	MedGen:CN169374|MONDO:MONDO:0024542,MedGen:C4551552,OMIM:224050,Orphanet:1766|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1638	.	0.3376	0.1818	0.25	0.0139	0.125	0.3308	0.2105	0.3583	0.0206983	3200	154602	rs555425887	0.2927	0.2905	0.2899	0.2955	0.3418	0.2919	0.2915	0.3381	0.3365	0.0877	0.2478	0.3286	0.0443	0.3460	0.2522	0.3019	0.2795	0.3418	0.2545	0.2556	0.2528	0.2563	0.3664	0.2523	0.2515	0.3521	0.3463	0.0964	0.5619	0.2423	0.3682	0.0533	0.3910	0.2345	0.3296	0.2564	0.3664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	11824.1	40	chr9	2622146	.	A	ACGG	11824.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.01;DP=505;ExcessHet=0.0072;FS=1.649;InbreedingCoeff=0.5833;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=33.31;ReadPosRankSum=0.956;SOR=0.585	GT:AD:DP:GQ:PL	1/0:0,20:51:99:2091,1251,1191	5	1	4	0
chr9	2622147	2622155	CGGCGGCGG	-	ncRNA_exonic	VLDLR-AS1	.	.	.	.	134	297	245	137	709	1228	0.466307	.	.	.	274730	not_provided|Congenital_cerebellar_hypoplasia|not_specified	MedGen:C3661900|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3265	0.30631	0.1908	0.1477	0.2045	0.25	0.125	0.2247	0.2105	0.1797	0.0002717	42	154602	rs369552432	0.3801	0.3475	0.3852	0.3748	0.4136	0.3792	0.3788	0.4075	0.4050	0.1944	0.3970	0.2985	0.4136	0.3827	0.2810	0.3964	0.3561	0.2349	0.3293	0.3297	0.3288	0.3298	0.4202	0.3269	0.3259	0.4055	0.4020	0.1981	0.1914	0.4141	0.2980	0.4202	0.3595	0.3483	0.3884	0.3335	0.2385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	11824.1	40	chr9	2622146	.	ACGGCGGCGG	A	11824.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.01;DP=505;ExcessHet=0.0072;FS=1.649;InbreedingCoeff=0.5833;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=33.31;ReadPosRankSum=0.956;SOR=0.585	GT:AD:DP:GQ:PL	0/1:0,31:51:99:2091,840,872	5	0	5	0
chr9	14819330	14819330	C	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon14:c.G2450A:p.R817Q,FREM1:NM_144966:exon15:c.G2450A:p.R817Q	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	901649	Oculotrichoanal_syndrome|not_provided|BNAR_syndrome|Trigonocephaly_2	MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|MedGen:C3661900|MONDO:MONDO:0012165,MedGen:C2750433,OMIM:608980,Orphanet:217266|MONDO:MONDO:0013774,MedGen:C3280974,OMIM:614485,Orphanet:3366	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.065	0.00688707000834	0.0002	0.000199681	0.0002	0	0.0005	0	0	0.0003	0.0011	0	0.0001811	28	154602	rs200495440	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	0.0003	0.0002	0	0.0004	0.0047	5.039e-05	0	0	3.868e-05	0.0004	3.478e-05	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.713e-05	5.278e-05	2.833e-05	2.406e-05	0	0.0002	0.0040	0	0	0	7.351e-05	0	0	0.95	0.02146	T	0.75	0.04807	T	0.002	0.09854	B	0.001	0.04355	B	0.002279	0.36887	N	0.334638	1	0.08975	N	-1.475	0.00530	N	1.86	0.24285	T	0.56	0.02680	N	0.057	0.06059	-0.9868	0.33396	T	0.013	0.04890	T	10	0.0051345825	0.00111	T	0.006887	0.18233	T	0.065	0.18881	.	.	0.202086224978	0.19791	0.23678240275522044	0.23593	.	.	0.202627420425	0.00537	T	0.032119	0.22347	T	-0.601328	0.00143	T	-0.779576	0.02466	T	0.0172645698358052	0.00468	T	0.69823	0.30825	T	0.018402983	0.00361	0.027829597	0.00966	0.018402983	0.00361	0.027829597	0.00966	-5.192	0.38860	T	0.05973637893199889	0.01594	0.069	0.03231	B	.;.	.;.	0.356926	0.07298	3.906	0.48709830075915678	0.04087	0.02258	0.06533	N	AEFBI	0.046612	0.07758	N	-0.999623590294994	0.08612	0.404448	-0.820096600458647	0.14008	0.7297653	0.0379390555732823	0.14322	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.86	3.52	0.39415	1.477000	0.35039	-0.413000	0.09334	-0.190000	0.09434	0.979000	0.35152	0.000000	0.08366	0.001000	0.02609	0.1376:0.0777:0.1435:0.6412	3.245	0.06394	796	0.45353	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	895.43	34	chr9	14819330	.	C	T	895.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.509;DP=429;ExcessHet=0;FS=1.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.335;SOR=0.984	GT:AD:DP:GQ:PL	0/1:50,37:87:99:907,0,1271	9	0	1	0
chr9	22003368	22003368	G	A	ncRNA_intronic	CDKN2B-AS1	.	.	.	.	1453	29	2	38	0	78	0.573529	.	.	YES	800881	Malignant_tumor_of_breast|Three_Vessel_Coronary_Disease	MONDO:MONDO:0007254,MedGen:C0006142|MedGen:C3272265	no_assertion_criteria_provided	Likely_pathogenic|protective	Neoplasm	Human_Phenotype_Ontology:HP:0002664,Human_Phenotype_Ontology:HP:0003008,Human_Phenotype_Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	0.794728	.	.	.	.	.	.	.	.	0.109727	16964	154602	rs1063192	0.6518	0.0913	0.6531	0.6503	0.9314	0.6469	0.6448	0.9046	0.8937	0.9314	0.7857	0.7128	0.7926	0.6250	0.7757	0.5822	0.6640	0.7125	0.7072	0.7071	0.7062	0.7083	0.9240	0.7037	0.7022	0.9163	0.9131	0.9240	0.5044	0.7796	0.7155	0.8212	0.5761	0.8253	0.5682	0.7200	0.7494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	46.21	.	chr9	22003368	.	G	A	46.21	.	AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=3;MLEAF=1;MQ=60;QD=23.1;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	0	1	0	9
chr9	34646576	34646579	CAGT	-	upstream	GALT	dist=10	.	.	Galactosemia, Autosomal recessive	25	1347	134	16	0	166	0.058042	.	.	.	36445	Classical_galactosemia,_homozygous_Duarte-type|Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase|Galactosemia|not_specified|Inborn_genetic_diseases|not_provided	MedGen:C0268152|MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239|Human_Phenotype_Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	.	.	.	0.0417332	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs111033640	0.0603	0.0594	0.0596	0.0610	0.0758	0.0599	0.0598	0.0742	0.0735	0.0111	0.0491	0.0510	0.0064	0.0679	0.0472	0.0636	0.0570	0.0758	0.0470	0.0471	0.0472	0.0468	0.0689	0.0461	0.0458	0.0629	0.0622	0.0124	0.1615	0.0491	0.0481	0.0093	0.0672	0.0408	0.0645	0.0445	0.0689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1523.47	20	chr9	34646575	.	CCAGT	C	1523.47	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.556;DP=231;ExcessHet=0.7463;FS=3.617;InbreedingCoeff=-0.1786;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=18.36;ReadPosRankSum=0.706;SOR=0.33	GT:AD:DP:GQ:PL	0/1:18,12:30:99:450,0,720	7	0	3	0
chr9	34649445	34649445	A	G	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon8:c.A613G:p.N205D,GALT:NM_000155:exon10:c.A940G:p.N314D	Galactosemia, Autosomal recessive	0	1107	372	43	0	458	0.171407	.	.	YES	18652	GALT_POLYMORPHISM_(DUARTE,_D2)|Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase|Galactosemia|not_provided|GALT-related_disorder	.|MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239|Human_Phenotype_Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.382	.	0.0715	0.0728834	0.0920	0.0237	0.0572	0.0076	0.1131	0.0945	0.1289	0.1832	0.0897013	13868	154602	rs2070074	0.0956	0.0956	0.0927	0.0986	0.1801	0.0952	0.0950	0.1777	0.1767	0.0230	0.0656	0.1134	0.0067	0.1077	0.1130	0.0945	0.0966	0.1801	0.0748	0.0749	0.0737	0.0760	0.1732	0.0737	0.0732	0.1634	0.1595	0.0239	0.2264	0.0709	0.1086	0.0108	0.1101	0.0850	0.0952	0.0794	0.1732	1.0	0.00964	T	0.7	0.05727	T	0.0	0.02946	B	0.0	0.01387	B	0.023682	0.26395	N	0.363282	1	0.08975	N	-1.335	0.00675	N	-5.41	0.99076	D	0.69	0.02558	N	0.104	0.08786	-0.3448	0.73705	T	0.089	0.34216	T	10	0.0015891492	0.00018	T	.	.	.	0.382	0.69946	.	.	.	.	0.6107519334601241	0.61007	0.0529846633455	0.05838	0.494998365641	0.38132	T	0.531105	0.83775	D	-0.320467	0.06859	T	-0.0892856	0.64216	T	0.0011724377910854	0.00011	T	0.607439	0.22904	T	0.115712315	0.27301	0.081687234	0.18585	0.12176597	0.28627	0.085849494	0.19850	-2.233	0.04204	T	0.05973314454148825	0.01594	0.066	0.02313	B	.;.	.;.	2.301558	0.29454	18.13	0.77100449014328254	0.11737	0.33342	0.24805	N	AEFBI	0.235241	0.35787	N	-0.807690574731224	0.13113	0.6437672	-0.543084349204827	0.20989	1.133386	0.999962452380944	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	4.4	0.52402	1.735000	0.37800	6.631000	0.56152	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.3139:0.0:0.6861:0.0	7.829	0.28496	327	0.86637	.;Galactose-1-phosphate uridyl transferase, C-terminal	GALT|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|GALT|IL11RA|IL11RA|CNTFR-AS1|IL11RA|GALT|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|RP11-195F19.9|RPP25L|GALT|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA|RP11-195F19.9|TRBV26OR9-2|RP11-384P7.7|RPP25L|IL11RA|RP11-195F19.9|GALT|IL11RA|GALT|IL11RA|IL11RA|RPP25L|IL11RA|RP11-195F19.9|CNTFR-AS1|GALT|IL11RA|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|RPP25L|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	GALT|GALT|GALT|GALT|GALT|GALT|RP11-195F19.9|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|RPP25L|GALT|RP11-195F19.9|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|RPP25L|GALT|GALT|GALT|GALT|GALT|GALT|CCL27|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Uterus|Vagina|Whole_Blood	rs2070074	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	0.120342	0.055556	0.092391	0.134503	0.100000	0.129310	0.131098	0.200758	0.4	10009.0	34	chr9	34649445	.	A	G	10009.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.72;DP=878;ExcessHet=2.8549;FS=0;InbreedingCoeff=-0.25;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.027;SOR=0.688	GT:AD:DP:GQ:PL	0/1:70,56:126:99:1218,0,1752	3	1	6	0
chr9	114423486	114423486	G	A	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon3:c.C401T:p.P134L,WHRN:NM_001083885:exon7:c.C305T:p.P102L,WHRN:NM_001173425:exon7:c.C1454T:p.P485L,WHRN:NM_015404:exon7:c.C1454T:p.P485L	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	54819	Usher_syndrome_type_2D|not_provided|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_31	MONDO:MONDO:0012662,MedGen:C1568249,OMIM:611383,Orphanet:231178,Orphanet:886|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011767,MedGen:C1846839,OMIM:607084,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.244	.	0.0028	0.00199681	0.0034	0.0011	0.0008	0.0001	0.0178	0.0032	0.0088	0.0031	0.0030983	479	154602	rs79572315	0.0031	0.0031	0.0031	0.0031	0.0036	0.0030	0.0030	0.0033	0.0032	0.0013	0.0007	3.829e-05	0.0001	0.0166	0.0026	0.0027	0.0031	0.0036	0.0035	0.0035	0.0026	0.0046	0.0024	0.0033	0.0032	0.0021	0.0020	0.0015	0	0.0009	0	0.0006	0.0265	0	0.0024	0.0014	0.0021	0.009	0.63226	D	0.196	0.36365	T	0.997	0.77913	D	0.974	0.73157	D	0.000001	0.62929	N	0.058329	1	0.81001	D	2.67	0.78151	M	3.73	0.10674	T	-5.16	0.83422	D	0.765	0.76296	-1.1289	0.01836	T	0.058	0.24204	T	10	0.008380979	0.00190	T	.	.	.	0.244	0.55061	.	.	0.522928537951	0.51938	0.5321338413449586	0.53138	0.506194394545	0.48837	0.606746792793	0.53856	T	0.515533	0.82957	D	-0.379909	0.03120	T	-0.32154	0.42405	T	0.0214574827305478	0.00849	T	0.918008	0.75346	D	0.36924544	0.58529	0.29008386	0.55031	0.32678905	0.55206	0.26182386	0.51965	-9.459	0.75811	D	.	.	0.140	0.34840	B	.;.;.	.;.;.	5.500997	0.91587	32	0.99868317066776546	0.94637	0.98118	0.79751	D	AEFDBI	0.855583	0.77271	D	0.692525358861219	0.79144	7.015778	0.651573562423459	0.78729	6.934922	0.999999996252282	0.74766	0.626454	0.40138	0	0.670034	0.63936	0	0.80507	0.99327	0	0.616125	0.45549	0	.	.	5.3	4.41	0.52588	9.083000	0.93460	9.782000	0.81603	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0739:0.0:0.9261:0.0	13.759	0.62441	702	0.57624	.;.;.	.	.	.	.	rs79572315	Uncertain significance	0	0	0	0	0	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	1975.43	33	chr9	114423486	.	G	A	1975.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=529;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=1.33;SOR=0.73	GT:AD:DP:GQ:PL	0/1:109,83:192:99:1987,0,2592	9	0	1	0
chr9	132328623	132328623	T	C	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon10:c.A2975G:p.K992R,SETX:NM_001351528:exon10:c.A2975G:p.K992R,SETX:NM_015046:exon10:c.A2975G:p.K992R	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	0	1485	35	2	0	39	0.0129611	.	.	.	253363	Hereditary_spastic_paraplegia|Spastic_paraplegia|Amyotrophic_lateral_sclerosis_type_4|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|not_specified|not_provided	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.244	.	0.0117	0.00658946	0.0151	0.0027	0.0064	0	0.0493	0.0187	0.0198	0.0083	0.0145341	2247	154602	rs61742937	0.0145	0.0145	0.0143	0.0148	0.0150	0.0144	0.0143	0.0148	0.0147	0.0023	0.0082	0.0073	2.52e-05	0.0468	0.0130	0.0150	0.0133	0.0070	0.0141	0.0141	0.0135	0.0148	0.0175	0.0136	0.0134	0.0167	0.0163	0.0026	0.0186	0.0142	0.0043	0	0.0505	0.0204	0.0175	0.0170	0.0060	0.039	0.42487	D	0.081	0.41742	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.00162	N	7739.210000	1	0.08975	N	1.4	0.35362	L	-2.47	0.88997	D	-1.13	0.29114	N	0.03	0.00717	-0.6223	0.63893	T	0.326	0.69436	T	10	0.0022610426	0.00033	T	.	.	.	0.244	0.55061	.	.	.	.	0.23882982507508727	0.23796	0.0718533108424	0.08051	0.353411912918	0.18423	T	0.306023	0.67825	T	-0.470488	0.00844	T	-0.432343	0.29670	T	0.000944401584356875	0.00009	T	0.622038	0.23930	T	0.09425707	0.22157	0.09587687	0.22758	0.09425707	0.22157	0.09587687	0.22757	-4.521	0.31162	T	0.6388593543702014	0.70927	0.081	0.08272	B	.	.	1.533747	0.19678	14.38	0.97958509388067672	0.37158	0.55602	0.29905	D	AEFGBCI	0.076852	0.15470	N	-0.775182274156688	0.13959	0.6915422	-0.767738281659161	0.15287	0.8032317	0.999907973070562	0.45458	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	0.239	0.14746	1.084000	0.30439	0.167000	0.15474	0.665000	0.62972	0.685000	0.28485	0.010000	0.20010	0.179000	0.21265	0.0:0.1392:0.2616:0.5993	5.907	0.18248	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012085	0.005051	0.013587	0.011696	0.000000	0.000000	0.021341	0.007576	0.05	2151.43	106	chr9	132328623	.	T	C	2151.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.998;DP=639;ExcessHet=0;FS=2.739;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.113;SOR=0.645	GT:AD:DP:GQ:PL	0/1:82,81:163:99:2163,0,2235	9	0	1	0
chr9	133554678	133554678	G	A	exonic	ADAMTSL2	.	nonsynonymous SNV	ADAMTSL2:NM_001145320:exon10:c.G1261A:p.G421S,ADAMTSL2:NM_014694:exon10:c.G1261A:p.G421S	Geleophysic dysplasia 1, Autosomal recessive	15	1486	20	1	0	22	0.00734803	.	.	.	901407	Connective_tissue_dysplasia|not_specified|Geleophysic_dysplasia_1|not_provided	.|MedGen:CN169374|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.082	0.03839295919	.	.	.	.	.	.	.	.	.	.	0.0011837	183	154602	rs752071055	0.0237	0.0229	0.0242	0.0233	0.0267	0.0235	0.0234	0.0264	0.0263	0.0039	0.0093	0.0220	0.0001	0.0221	0.0057	0.0267	0.0206	0.0117	0.0173	0.0173	0.0179	0.0166	0.0262	0.0167	0.0165	0.0252	0.0248	0.0045	0	0.0168	0.0228	0.0002	0.0202	0.0034	0.0262	0.0241	0.0110	0.641	0.27783	T	0.407	0.15355	T	0.026	0.19406	B	0.005	0.11217	B	0.948427	0.08304	N	0.975130	0.913051	0.36463	D	2.045	0.56016	M	0.11	0.61326	T	-0.14	0.11547	N	0.115	0.14905	-0.9906	0.32449	T	0.153	0.48257	T	10	0.007780224	0.00177	T	0.038393	0.58198	D	0.082	0.23913	0.206	0.12216	0.69236683774	0.68972	0.29372195339479823	0.29285	0.529839768189	0.50541	0.481912434101	0.36321	T	0.020363	0.16045	T	-0.122918	0.32649	T	-0.414339	0.31726	T	0.39006382226944	0.28566	T	0.643636	0.25529	T	0.042424463	0.06430	0.06666599	0.13687	0.042424463	0.06430	0.06666599	0.13687	-4.191	0.26621	T	.	.	0.091	0.13032	B	.;.;.	.;.;.	2.610219	0.33897	19.47	0.98874138336139439	0.47702	0.88617	0.48629	D	AEFDBI	0.700304	0.65736	D	-0.229058035096416	0.31947	1.796496	-0.0684449941049482	0.36704	2.139379	0.973416240837476	0.29454	0.62174	0.39705	0	0.547309	0.14657	0	0.491614	0.08109	1	0.613276	0.41899	0	.	.	4.79	3.89	0.44098	3.915000	0.56121	4.093000	0.41817	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.089000	0.17737	0.0783:0.0:0.9217:0.0	13.118	0.58729	807	0.43470	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	634.43	37	chr9	133554678	.	G	A	634.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.707;DP=348;ExcessHet=0;FS=4.201;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.629;SOR=0.247	GT:AD:DP:GQ:PL	0/1:24,24:48:99:646,0,638	9	0	1	0
chr10	8074278	8074278	-	A	UTR3	GATA3	NM_002051:c.*255_*256insA;NM_001002295:c.*255_*256insA	.	.	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, Autosomal dominant	1265	97	26	134	0	294	0.602459	.	.	.	322826	Hypoparathyroidism,_deafness,_renal_disease_syndrome|not_provided	MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3839918	0.5994	0.5553	0.6000	0.5988	0.7495	0.5968	0.5957	0.7388	0.7344	0.5196	0.6349	0.6406	0.7495	0.5934	0.6034	0.5826	0.6020	0.6001	0.7439	0.7437	0.7383	0.7496	0.9440	0.7402	0.7387	0.9218	0.9127	0.6481	0.8703	0.8139	0.8267	0.9440	0.7830	0.8082	0.7520	0.7632	0.8348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	1522.01	7	chr10	8074278	.	G	GA	1522.01	.	AC=16;AF=0.8;AN=20;BaseQRankSum=0.484;DP=84;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.3208;MLEAC=16;MLEAF=0.8;MQ=60;MQRankSum=0;QD=24.95;ReadPosRankSum=0;SOR=0.495	GT:AD:DP:GQ:PL	1/1:0,6:6:18:167,18,0	1	7	2	0
chr10	23193706	23193706	T	C	exonic	PTF1A	.	nonsynonymous SNV	PTF1A:NM_178161:exon2:c.T787C:p.S263P	Pancreatic agenesis 2, Autosomal recessive;Pancreatic and cerebellar agenesis, Autosomal recessive	277	416	362	467	0	1296	0.609023	.	.	.	135501	not_provided|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome|not_specified|Permanent_neonatal_diabetes_mellitus|Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus|Pancreatic_agenesis_2	MedGen:C3661900|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288|MedGen:CN169374|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0010813,MedGen:C1838655,OMIM:600089|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.357	.	0.5108	0.624401	0.5470	0.5697	0.7022	0.8903	0.4327	0.4864	0.5430	0.5350	0.523195	80887	154602	rs7918487	0.4938	0.4962	0.4927	0.4948	0.8378	0.4928	0.4924	0.8302	0.8271	0.5601	0.6724	0.5597	0.8378	0.4417	0.6054	0.4672	0.5268	0.5353	0.5240	0.5241	0.5217	0.5264	0.8799	0.5210	0.5197	0.8585	0.8498	0.5578	0.4215	0.5843	0.5542	0.8799	0.4411	0.6327	0.4725	0.5375	0.5558	0.035	0.43708	D	0.009	0.66756	D	0.022	0.18677	B	0.011	0.15521	B	0.000012	0.62929	N	0.068790	0.00248586	0.43951	P	1.18	0.29980	L	-3.56	0.94869	D	-2.27	0.50666	N	0.06	0.03175	-0.9246	0.44915	T	0.000	0.00011	T	9	7.2453116e-07	0.00003	T	.	.	.	0.357	0.67782	.	.	.	.	0.8029689689293238	0.80250	.	.	0.808061718941	0.83195	D	0.245918	0.61529	T	-0.418964	0.01736	T	-0.230769	0.51698	T	0.0349258213578647	0.02795	T	0.630137	0.24490	T	0.42178693	0.62210	0.62976736	0.78405	0.41815445	0.61969	0.6288712	0.78357	-5.729	0.43950	T	0.22715938275925626	0.30707	0.161	0.35643	B	.	.	3.140397	0.42469	21.5	0.98917447264891534	0.48491	0.98167	0.80181	D	AEFDBCI	0.815195	0.73723	D	-0.175553205708038	0.34153	1.946079	-0.064842511773185	0.36855	2.150201	0.999832780372402	0.43792	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	5.34	3.02	0.33970	4.083000	0.57365	2.832000	0.35027	0.661000	0.55757	1.000000	0.71638	0.999000	0.35428	0.500000	0.29017	0.0:0.1441:0.0:0.8559	9.307	0.37045	833	0.38804	.	C10orf67|C10orf67|ARMC3|MSRB2|C10orf67|C10orf67|C10orf67|C10orf67	Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid	C10orf67	Testis	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0.638469	0.611111	0.634511	0.652047	0.450000	0.637931	0.667683	0.609848	0.65	5543.95	37	chr10	23193706	.	T	C	5543.95	.	AC=13;AF=0.65;AN=20;BaseQRankSum=1.47;DP=301;ExcessHet=1.4371;FS=2.628;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=21.24;ReadPosRankSum=0.397;SOR=0.526	GT:AD:DP:GQ:PL	1/1:1,31:32:86:956,86,0	1	4	5	0
chr10	52771475	52771475	C	T	exonic	MBL2	.	nonsynonymous SNV	MBL2:NM_000242:exon1:c.G161A:p.G54D,MBL2:NM_001378373:exon2:c.G161A:p.G54D,MBL2:NM_001378374:exon2:c.G161A:p.G54D	.	417	840	239	26	0	291	0.147641	.	.	.	29389	not_specified|not_provided|Mannose-binding_lectin_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013714,MedGen:C3280586,OMIM:614372	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.728	.	0.1026	0.122005	0.1389	0.0297	0.1677	0.1731	0.1385	0.1459	0.1487	0.1406	0.136693	21133	154602	rs1800450	0.1410	0.1410	0.1409	0.1411	0.1881	0.1405	0.1403	0.1846	0.1831	0.0277	0.1741	0.1373	0.1881	0.1334	0.1189	0.1421	0.1382	0.1408	0.1164	0.1166	0.1139	0.1191	0.1726	0.1150	0.1144	0.1671	0.1649	0.0339	0.1956	0.1726	0.1503	0.1676	0.1467	0.1361	0.1412	0.1237	0.1363	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.001384	0.39175	N	0.117435	0.000104405	0.50595	P	4.29	0.98219	H	-5.77	0.99345	D	-6.1	0.89985	D	0.18	0.19459	-1.2495	0.00008	T	0.185	0.53376	T	9	0.0017509758	0.00022	T	.	.	.	0.728	0.90457	.	.	.	.	0.8229376436818094	0.82250	0.497859118466	0.48274	0.621536254883	0.55947	T	0.723671	0.92210	D	-0.0856461	0.38793	T	0.248019	0.85524	D	0.0679099384046752	0.08356	T	0.973953	0.90669	D	0.8690599	0.88787	0.84412843	0.91112	0.8690599	0.88789	0.81878877	0.89461	-13.651	0.91867	D	0.8926840177459547	0.94682	0.830	0.78746	P	.	.	4.151795	0.62284	24.4	0.99855563460931351	0.93458	0.69099	0.34055	D	AEFBCI	0.348004	0.44228	N	0.885495860096478	0.91031	10.68206	0.721114162042881	0.83984	8.166846	0.999999443880767	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.99	3.99	0.45527	2.556000	0.45524	4.049000	0.41491	0.599000	0.40250	0.294000	0.25270	0.998000	0.33993	0.937000	0.47636	0.0:1.0:0.0:0.0	11.885	0.51878	901	0.24189	.	MBL2|MBL2	Nerve_Tibial|Testis	.	.	rs1800450	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.126531	0.118280	0.099455	0.150000	0.222222	0.129310	0.164596	0.131783	0.2	4951.57	108	chr10	52771475	.	C	T	4951.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.662;DP=721;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=0.863;SOR=0.678	GT:AD:DP:GQ:PL	0/1:70,68:138:99:1509,0,1605	6	0	4	0
chr10	70598101	70598101	T	C	exonic	PRF1	.	synonymous SNV	PRF1:NM_001083116:exon3:c.A1620G:p.Q540Q,PRF1:NM_005041:exon3:c.A1620G:p.Q540Q	Aplastic anemia;Hemophagocytic lymphohistiocytosis, familial, 2, Autosomal recessive;Lymphoma, non-Hodgkin	1	1518	3	0	0	3	0.000987167	.	.	.	724044	not_provided|Familial_hemophagocytic_lymphohistiocytosis_2|Autoinflammatory_syndrome	MedGen:C3661900|MONDO:MONDO:0011337,MedGen:C1863727,OMIM:603553,Orphanet:540|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.00259585	0.0019	0	0.0003	0.0135	0.0027	0.0007	0.0022	0.0025	0.0016623	257	154602	rs149776121	0.0011	0.0011	0.0010	0.0011	0.0147	0.0010	0.0010	0.0137	0.0133	8.961e-05	0.0003	0.0001	0.0147	0.0031	0.0005	0.0004	0.0012	0.0023	0.0010	0.0010	0.0009	0.0012	0.0116	0.0009	0.0009	0.0093	0.0084	9.633e-05	0	0.0012	0.0003	0.0116	0.0025	0	0.0006	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.15	5939.45	58	chr10	70598101	.	T	C	5939.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.57;DP=784;ExcessHet=0.7463;FS=1.104;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.116;SOR=0.599	GT:AD:DP:GQ:PL	0/1:75,94:169:99:2233,0,1881	7	0	3	0
chr10	71798442	71798442	G	A	exonic	CDH23	.	synonymous SNV	CDH23:NM_001171933:exon3:c.G198A:p.L66L,CDH23:NM_001171934:exon3:c.G198A:p.L66L,CDH23:NM_022124:exon48:c.G6918A:p.L2306L	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	1486	36	0	0	36	0.0119681	.	.	YES	55187	not_provided|Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_12|not_specified|Usher_syndrome_type_1D	MedGen:C3661900|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MedGen:CN169374|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0006	0.00479233	0.0036	0.0002	0.0011	0.0001	0	0.0015	0.0045	0.0188	0.003163	489	154602	rs146819206	0.0019	0.0019	0.0014	0.0024	0.0188	0.0018	0.0018	0.0181	0.0177	5.974e-05	0.0008	0.0068	2.519e-05	0.0001	0.0083	0.0006	0.0027	0.0188	0.0011	0.0012	0.0010	0.0013	0.0159	0.0010	0.0010	0.0131	0.0120	0.0001	0	0.0008	0.0058	0.0002	9.411e-05	0.0068	0.0008	0.0005	0.0159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.004532	0.000000	0.001359	0.005848	0.050000	0.008621	0.003049	0.011364	0.05	1655.43	34	chr10	71798442	.	G	A	1655.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.26;DP=430;ExcessHet=0;FS=2.315;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=1.11;SOR=0.498	GT:AD:DP:GQ:PL	0/1:56,66:122:99:1667,0,1384	9	0	1	0
chr10	71811550	71811550	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon17:c.G2518A:p.A840T,CDH23:NM_001171934:exon17:c.G2518A:p.A840T,CDH23:NM_022124:exon62:c.G9238A:p.A3080T	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	1503	19	0	0	19	0.00628099	.	.	.	229903	Usher_syndrome_type_1|not_provided|not_specified|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_12	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.133	.	7.8e-05	0.00299521	0.0015	0	0.0005	0.0007	0	7.494e-05	0	0.0099	0.0013066	202	154602	rs369395479	0.0007	0.0007	0.0005	0.0010	0.0095	0.0007	0.0007	0.0090	0.0088	5.974e-05	0.0002	0	0.0005	0	0.0042	0.0001	0.0009	0.0095	0.0004	0.0004	0.0003	0.0004	0.0085	0.0003	0.0003	0.0064	0.0057	4.817e-05	0	0.0003	0	0.0004	0	0.0034	8.824e-05	0.0009	0.0085	0.316	0.13744	T	0.108	0.38891	T	0.016	0.17332	B	0.002	0.06944	B	0.000051	0.53742	D	0.072195	0.999902	0.50806	D	1.295	0.32453	L	0.24	0.59583	T	-1.79	0.42191	N	0.45	0.48780	-0.9216	0.45334	T	0.145	0.46859	T	10	0.008137375	0.00185	T	.	.	.	0.133	0.36157	.	.	0.777339287198	0.77529	0.7024125172313511	0.70182	0.174077167911	0.19599	0.457005262375	0.32900	T	0.016806	0.59237	T	-0.387317	0.02800	T	-0.321596	0.42400	T	0.0386353492225009	0.03444	T	0.816218	0.47186	T	0.051676724	0.09526	0.13800593	0.32971	0.04183747	0.06234	0.12340108	0.29756	-6.772	0.53299	T	.	.	0.107	0.20117	B	.;.;.;.	.;.;.;.	3.374855	0.46651	22.3	0.98528525038825709	0.42558	0.84584	0.43667	D	AEFDBCI	0.610479	0.59930	D	-0.255459950207905	0.30885	1.726467	-0.103550876891836	0.35246	2.036932	0.99999752825339	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.562822	0.20929	0	.	.	5.36	4.46	0.53567	5.805000	0.68809	8.594000	0.77699	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0701:0.0:0.7984:0.1315	10.628	0.44712	787	0.46738	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	2780.43	36	chr10	71811550	.	G	A	2780.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.21;DP=501;ExcessHet=0;FS=1.858;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=1.05;SOR=0.593	GT:AD:DP:GQ:PL	0/1:75,105:180:99:2792,0,1693	9	0	1	0
chr10	90918984	90919001	ATAAATAAATATATATAT	-	intronic	ANKRD1	.	.	.	.	556	191	222	402	151	1177	0.728693	.	.	.	323868	Congenital_total_pulmonary_venous_return_anomaly|ANKRD1-related_dilated_cardiomyopathy|Cardiovascular_phenotype|not_provided|not_specified|ANKRD1-related_disorder|Dilated_Cardiomyopathy,_Dominant	Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:CN119551|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374|.|MedGen:CN239310	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6044	0.5463	0.6736	0.6456	0.5899	0.6051	0.6198	0.5607	0.0001153	3	26028	rs72003210	0.5942	0.5613	0.5961	0.5922	0.6772	0.5931	0.5926	0.6701	0.6672	0.5057	0.6772	0.5707	0.5974	0.5946	0.6054	0.5930	0.5917	0.5952	0.4449	0.4284	0.4406	0.4495	0.5009	0.4419	0.4407	0.4934	0.4916	0.2740	0.5442	0.5009	0.4732	0.4252	0.5550	0.4375	0.4980	0.4596	0.4621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	13217.6	14	chr10	90918983	.	AATAAATAAATATATATAT	A	13217.6	.	AC=11;AF=0.55;AN=20;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=0.8848;MLEAC=12;MLEAF=0.6;MQ=60;QD=30.5;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,45:47:52:1|1:90918981_AAAATAAAT_A:2027,137,0:90918981	4	5	1	0
chr10	110133616	110133619	TAAA	-	exonic	ADD3	.	nonframeshift deletion	ADD3:NM_001121:exon14:c.2023_2026del:p.*675*,ADD3:NM_019903:exon14:c.2023_2026del:p.*675*,ADD3:NM_001320592:exon15:c.2119_2122del:p.*707*,ADD3:NM_001320593:exon15:c.2119_2122del:p.*707*,ADD3:NM_016824:exon15:c.2119_2122del:p.*707*,ADD3:NM_001320591:exon16:c.2119_2122del:p.*707*,ADD3:NM_001320594:exon16:c.1885_1888del:p.*629*	Cerebral palsy, spastic quadriplegic, 3, Autosomal recessive	452	1067	3	0	0	3	0.00140384	.	.	.	438723	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0004	0.0001	8.781e-05	0	0	0.0006	0	0.0002	0.0002781	43	154602	rs753541585	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0037	0.0032	9.631e-05	0.0001	0.0041	2.542e-05	0	0.0052	0.0002	0.0007	0.0001	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.662e-05	0	0.0002	0.0035	0	0	0	0.0003	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	172.04	16	chr10	110133615	.	CTAAA	C	172.04	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.532;DP=164;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.064;SOR=0.631	GT:AD:DP:GQ:PL	0/1:9,5:14:99:183,0,352	8	0	1	1
chr10	123053170	123053170	T	-	intronic	ACADSB	.	.	.	2-methylbutyrylglycinuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	320535	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	Human_Phenotype_Ontology:HP:0020147,MONDO:MONDO:0012392,MedGen:C1864912,OMIM:610006,Orphanet:79157	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.841254	0.8350	0.8326	0.8529	0.8101	0.9059	0.8248	0.8622	0.8438	0.0002305	6	26028	rs11307362	0.7759	0.7604	0.7727	0.7790	0.8488	0.7745	0.7739	0.8346	0.8323	0.7806	0.8253	0.8229	0.7285	0.8290	0.8488	0.7651	0.7838	0.8403	0.8799	0.8792	0.8769	0.8830	0.9355	0.8759	0.8743	0.9125	0.9031	0.8803	0.7561	0.8926	0.9310	0.8443	0.9259	0.9555	0.8677	0.8681	0.9355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	6817.14	39	chr10	123053169	.	AT	A	6817.14	.	AC=18;AF=0.9;AN=20;BaseQRankSum=0.912;DP=401;ExcessHet=0.2348;FS=3.841;InbreedingCoeff=-0.1112;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=24.17;ReadPosRankSum=1.51;SOR=1.151	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1058,114,0	0	8	2	0
chr11	640109	640109	A	C	exonic	DRD4	.	nonsynonymous SNV	DRD4:NM_000797:exon3:c.A860C:p.Q287P	Autonomic nervous system dysfunction (3)	523	971	19	1	8	29	0.0106979	.	.	.	1196077	not_specified|Hereditary_attention_deficit-hyperactivity_disorder|not_provided|DRD4-related_disorder	MedGen:CN169374|MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.084	.	.	.	0.0918	0.5	0.1667	.	0	0.1923	0	0	0.0017917	277	154602	rs769762387	0.1063	0.0934	0.1108	0.1015	0.1211	0.1058	0.1055	0.1205	0.1202	0.1157	0.0188	0.0512	0.0011	0.0122	0.0407	0.1211	0.0778	0.0169	0.1111	0.1203	0.1161	0.1058	0.1524	0.1091	0.1083	0.1475	0.1455	0.1524	0.0723	0.1095	0.0983	0.0047	0.0967	0.0968	0.1107	0.0947	0.0321	0.187	0.21385	T	0.28	0.21678	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.32	0.68181	T	-0.5	0.15782	N	0.097	0.07811	-0.9799	0.35025	T	0.171	0.51229	T	6	0.0014480054	0.00016	T	.	.	.	0.084	0.24469	.	.	0.107399877778	0.10242	0.36882967111492193	0.36796	0.343915624163	0.36316	0.533386111259	0.43513	T	.	.	.	-0.574786	0.00207	T	-0.480285	0.24416	T	0.00964762916747873	0.00125	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00031	B	.	.	-0.293531	0.02646	0.336	0.15502331784184875	0.00382	0.01048	0.03908	N	AEFBI	0.131186	0.25003	N	-1.49389585525914	0.01893	0.08305123	-1.74504118575407	0.00952	0.04262861	0.999784558211461	0.43007	0.582742	0.33608	0	0.514364	0.08380	0	0.606884	0.38211	0	0.620976	0.48614	0	.	.	0.852	-1.7	0.07721	-3.055000	0.00688	-1.955000	0.04439	-0.777000	0.03376	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2421:0.0:0.5759:0.182	4.802	0.12668	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.027634	0.046875	0.020231	0.009009	0.062500	0.017241	0.064356	0.026667	0.15	297.44	35	chr11	640109	.	A	C	297.44	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.395;DP=225;ExcessHet=0.7463;FS=12.068;InbreedingCoeff=-0.1762;MLEAC=3;MLEAF=0.15;MQ=59.72;MQRankSum=0;QD=5.04;ReadPosRankSum=-0.891;SOR=2.114	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:24,6:30:99:.:.:154,0,845:.	7	0	3	0
chr11	791808	791808	C	T	UTR3	SLC25A22	NM_001191061:c.*107G>A;NM_001191060:c.*107G>A;NM_024698:c.*107G>A	.	.	Epileptic encephalopathy, early infantile, 3, Autosomal recessive	67	1447	7	1	0	9	0.00310024	.	.	.	328217	Early_myoclonic_encephalopathy|not_provided	MedGen:C0270855|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00219649	.	.	.	.	.	.	.	.	0.0016521	43	26028	rs4963152	0.0018	0.0018	0.0019	0.0018	0.0094	0.0018	0.0017	0.0085	0.0081	0.0094	0.0013	0.0109	0	0.0005	0.0049	0.0016	0.0021	0.0009	0.0036	0.0036	0.0037	0.0034	0.0086	0.0033	0.0032	0.0079	0.0076	0.0086	0	0.0027	0.0107	0	0.0006	0	0.0013	0.0047	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	.	.	.	.	.	.	.	.	0.05	191.43	19	chr11	791808	.	C	T	191.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.824;DP=122;ExcessHet=0;FS=0;InbreedingCoeff=-0.0531;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.281;SOR=0.569	GT:AD:DP:GQ:PL	0/1:8,7:15:99:203,0,231	9	0	1	0
chr11	2159830	2159830	T	G	UTR3	INS	NM_001185098:c.*22A>C;NM_000207:c.*22A>C;NM_001185097:c.*22A>C;NM_001291897:c.*22A>C	.	.	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant	21	72	439	990	0	2419	0.943816	.	.	.	326978	Maturity-onset_diabetes_of_the_young_type_10|Type_1_diabetes_mellitus_2|Autosomal_recessive_DOPA_responsive_dystonia|Diabetes_mellitus,_permanent_neonatal_4|Transient_Neonatal_Diabetes,_Dominant/Recessive|Diabetes_mellitus_type_1|not_provided|Hyperproinsulinemia|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MedGen:CN239353|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|MedGen:C3661900|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.164	.	0.5476	0.649161	0.7378	0.2764	0.7859	0.9533	0.8067	0.7306	0.7533	0.8444	0.0242431	631	26028	rs3842753	0.7205	0.7203	0.7162	0.7248	0.9584	0.7193	0.7188	0.9503	0.9470	0.2412	0.7619	0.7051	0.9584	0.7934	0.7900	0.7134	0.7161	0.8271	0.6102	0.6099	0.5977	0.6233	0.9488	0.6069	0.6055	0.9266	0.9175	0.2600	0.6623	0.7248	0.7098	0.9488	0.7927	0.7979	0.7192	0.6749	0.8312	0.232	0.18184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	P	.	.	.	-4.58	0.97812	D	0.19	0.04947	N	.	.	-0.8935	0.48623	T	0.000	0.00011	T	5	8.279031e-07	0.00003	T	.	.	.	0.164	0.42212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.339871	0.05397	T	-0.117157	0.62034	T	0.00906828145393925	0.00114	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00109	B	.	.	-0.107331	0.03596	0.704	0.45144910119490655	0.03522	0.00072	0.00504	N	AEFDBI	0.035797	0.04666	N	-1.16828247985444	0.05485	0.2502013	-1.43662767592952	0.02893	0.1339553	0.973550985092474	0.29466	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.76	0.04074	1.046000	0.29964	-4.087000	0.02350	-3.387000	0.00090	0.110000	0.22992	0.000000	0.08366	0.000000	0.00833	0.1391:0.4576:0.2174:0.1858	2.503	0.04356	988	0.01987	Insulin-like	IGF2-AS|TH|IGF2	Liver|Thyroid|Whole_Blood	.	.	rs3842753	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.8	32857.4	148	chr11	2159830	.	T	G	32857.4	.	AC=16;AF=0.8;AN=20;BaseQRankSum=1.5;DP=1555;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=16;MLEAF=0.8;MQ=60;MQRankSum=0;QD=21.6;ReadPosRankSum=0.615;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,149:149:99:.:.:4363,447,0:.	0	6	4	0
chr11	5254939	5254939	G	A	upstream	HBG2	dist=158	.	.	Cyanosis, transient neonatal, Autosomal dominant;Fetal hemoglobin quantitative trait locus 1, Autosomal dominant	611	857	47	7	0	61	0.0343662	.	.	.	30023	not_provided|Hereditary_persistence_of_fetal_hemoglobin|not_specified	MedGen:C3661900|MONDO:MONDO:0020989,MedGen:C0019025,OMIM:141749|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0479484	1248	26028	rs1060499525	0.2183	0.1733	0.2171	0.2194	0.2475	0.2171	0.2166	0.2459	0.2452	0.1238	0.1610	0.1566	0.1167	0.1910	0.1586	0.2475	0.2074	0.2141	0.2071	0.2107	0.2105	0.2035	0.2630	0.2051	0.2043	0.2598	0.2584	0.1428	0.2024	0.1805	0.1739	0.1099	0.1876	0.1837	0.2630	0.2108	0.2288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	205.8	4	chr11	5254939	.	G	A	205.8	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-1.006;DP=69;ExcessHet=0.8432;FS=2.75;InbreedingCoeff=-0.0575;MLEAC=3;MLEAF=0.167;MQ=53.89;MQRankSum=0;QD=9.8;ReadPosRankSum=-0.712;SOR=0.121	GT:AD:DP:GQ:PL	0/1:4,4:8:99:108,0,134	6	0	3	1
chr11	6616509	6616509	T	-	intronic	TPP1	.	.	.	Ceroid lipofuscinosis, neuronal, 2, Autosomal recessive;Spinocerebellar ataxia, autosomal recessive 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	321432	Neuronal_Ceroid-Lipofuscinosis,_Recessive|Neuronal_ceroid_lipofuscinosis_2|not_specified|not_provided	MedGen:CN239323|MONDO:MONDO:0008769,MedGen:C1876161,OMIM:204500,Orphanet:168491,Orphanet:228349,Orphanet:79264|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1142	0.0799	0.0493	0.0916	0.0410	0.1069	0.1220	0.1456	0.0005379	14	26028	rs35039601	0.3989	0.3867	0.4023	0.3954	0.4118	0.3980	0.3976	0.4108	0.4104	0.3181	0.3268	0.3599	0.3573	0.3454	0.3614	0.4118	0.3926	0.3499	0.5430	0.5451	0.5416	0.5444	0.6143	0.5396	0.5382	0.5937	0.5854	0.4376	0.6847	0.5590	0.5754	0.5442	0.5465	0.5397	0.5915	0.5301	0.6143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4254.15	29	chr11	6616508	.	AT	A	4254.15	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.037;DP=426;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=19.79;ReadPosRankSum=-0.896;SOR=0.787	GT:AD:DP:GQ:PL	0/1:2,9:28:58:498,238,207	2	0	8	0
chr11	17386857	17386857	C	T	UTR3	KCNJ11	NM_001166290:c.*62G>A;NM_000525:c.*62G>A;NM_001377297:c.*62G>A;NM_001377296:c.*62G>A	.	.	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	9	194	657	662	0	1981	0.836218	.	.	.	319487	Diabetes_mellitus,_transient_neonatal,_3|Maturity-onset_diabetes_of_the_young_type_13|Maturity_onset_diabetes_mellitus_in_young|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.735823	.	.	.	.	.	.	.	.	0.02213	576	26028	rs5213	0.6509	0.6490	0.6528	0.6489	0.9329	0.6497	0.6492	0.9237	0.9199	0.9329	0.6277	0.6666	0.6333	0.5278	0.7238	0.6500	0.6663	0.6293	0.7178	0.7178	0.7241	0.7113	0.9199	0.7143	0.7128	0.9122	0.9090	0.9199	0.5746	0.6767	0.6737	0.6457	0.5344	0.7041	0.6490	0.6958	0.6272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.65	14318.0	59	chr11	17386857	.	C	T	14318.0	.	AC=13;AF=0.65;AN=20;BaseQRankSum=0.772;DP=691;ExcessHet=1.4371;FS=4.229;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=23.09;ReadPosRankSum=-0.153;SOR=1.068	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2635,237,0	1	4	5	0
chr11	17395957	17395957	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	6	445	728	343	0	1414	0.613715	.	.	.	167548	not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|not_provided|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Hyperinsulinemic_hypoglycemia,_familial,_1|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4704	0.421526	0.4583	0.7635	0.5950	0.1792	0.4136	0.4287	0.4590	0.3842	0.0121792	317	26028	rs739689	0.3432	0.3401	0.3432	0.3431	0.7497	0.3424	0.3420	0.7418	0.7385	0.7497	0.4335	0.4145	0.1096	0.2056	0.4979	0.3368	0.3619	0.3678	0.4400	0.4401	0.4495	0.4300	0.7292	0.4372	0.4361	0.7223	0.7195	0.7292	0.2325	0.4480	0.4173	0.0892	0.1976	0.4286	0.3364	0.4347	0.3522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	10422.0	57	chr11	17395957	.	A	G	10422.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=1.18;DP=508;ExcessHet=0.3701;FS=2.526;InbreedingCoeff=0.1667;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=25.23;ReadPosRankSum=0.033;SOR=1	GT:AD:DP:GQ:PL	1/1:1,48:49:99:1634,137,0	2	4	4	0
chr11	17396823	17396823	C	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	16	869	514	123	0	760	0.304243	.	.	.	1166870	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.215855	.	.	.	.	.	.	.	.	0.0387317	5988	154602	rs4148644	0.1966	0.1974	0.1962	0.1971	0.2811	0.1960	0.1958	0.2762	0.2742	0.2811	0.1956	0.2030	0.0815	0.1224	0.2608	0.1993	0.1943	0.2164	0.2111	0.2113	0.2172	0.2047	0.2771	0.2092	0.2084	0.2729	0.2711	0.2771	0.1327	0.2051	0.1967	0.0754	0.1226	0.2177	0.1980	0.2055	0.2143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2356.81	5	chr11	17396823	.	C	A	2356.81	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.907;DP=170;ExcessHet=0.0072;FS=0;InbreedingCoeff=0.5744;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=28.06;ReadPosRankSum=-0.107;SOR=0.537	GT:AD:DP:GQ:PL	1/1:0,21:21:63:792,63,0	5	3	2	0
chr11	17414293	17414293	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	703	213	106	500	0	1106	0.721932	.	.	.	1166871	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.904153	.	.	.	.	.	.	.	.	0.865875	22537	26028	rs4148632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8922	0.8921	0.8924	0.8919	0.9655	0.8882	0.8865	0.9576	0.9543	0.9655	0.9134	0.8980	0.8767	0.9122	0.8735	0.8163	0.8525	0.8925	0.8324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	1386.14	9	chr11	17414293	.	A	G	1386.14	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-1.383;DP=74;ExcessHet=0;FS=0;InbreedingCoeff=0.7347;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=30.8;ReadPosRankSum=1.38;SOR=2.494	GT:AD:DP:GQ:PL	0/1:1,5:6:23:145,0,23	3	6	1	0
chr11	17414389	17414389	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	87	248	463	724	0	1911	0.793934	.	.	.	1166872	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.747005	.	.	.	.	.	.	.	.	0.146059	22581	154602	rs4148631	0.7539	0.7531	0.7539	0.7539	0.8624	0.7526	0.7521	0.8546	0.8514	0.5784	0.8469	0.7895	0.8624	0.7273	0.7046	0.7512	0.7604	0.7470	0.7155	0.7155	0.7141	0.7170	0.8819	0.7120	0.7105	0.8605	0.8518	0.5817	0.8136	0.7993	0.7954	0.8819	0.7282	0.7415	0.7540	0.7427	0.7632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	4993.96	24	chr11	17414389	.	G	A	4993.96	.	AC=11;AF=0.55;AN=20;BaseQRankSum=1.21;DP=259;ExcessHet=0.0657;FS=0;InbreedingCoeff=0.3939;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=28.7;ReadPosRankSum=-0.578;SOR=0.793	GT:AD:DP:GQ:PL	0/1:11,18:29:99:607,0,321	3	4	3	0
chr11	17414419	17414419	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	19	213	530	760	0	2050	0.827948	.	.	.	1166873	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.746605	.	.	.	.	.	.	.	.	0.146842	22702	154602	rs4148630	0.7523	0.7519	0.7521	0.7525	0.8627	0.7511	0.7506	0.8550	0.8518	0.5795	0.8463	0.7888	0.8627	0.7268	0.7049	0.7499	0.7602	0.7471	0.7153	0.7153	0.7139	0.7168	0.8826	0.7118	0.7103	0.8612	0.8524	0.5812	0.8136	0.7993	0.7953	0.8826	0.7283	0.7415	0.7538	0.7427	0.7630	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	7646.96	40	chr11	17414419	.	G	A	7646.96	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.596;DP=400;ExcessHet=0.0657;FS=3.149;InbreedingCoeff=0.3939;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=26.28;ReadPosRankSum=-0.888;SOR=0.998	GT:AD:DP:GQ:PL	0/1:22,29:51:99:874,0,563	3	4	3	0
chr11	17415389	17415389	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	6	93	473	950	0	2373	0.927315	.	.	.	1166874	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8933	0.903754	0.8760	0.9698	0.9072	0.9098	0.8748	0.8620	0.8614	0.8369	0.0257799	671	26028	rs4148626	0.8556	0.8554	0.8570	0.8542	0.9669	0.8544	0.8538	0.9580	0.9544	0.9669	0.9065	0.8766	0.8902	0.8652	0.8093	0.8498	0.8683	0.8281	0.8916	0.8915	0.8919	0.8912	0.9632	0.8876	0.8859	0.9553	0.9520	0.9632	0.9134	0.8977	0.8767	0.9121	0.8731	0.8163	0.8526	0.8931	0.8328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	14104.9	33	chr11	17415389	.	A	G	14104.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.635;DP=637;ExcessHet=0;FS=0;InbreedingCoeff=0.7802;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=27.02;ReadPosRankSum=0.399;SOR=0.611	GT:AD:DP:GQ:PL	0/1:30,30:60:99:770,0,819	3	6	1	0
chr11	17428382	17428382	C	T	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon14:c.G1947A:p.K649K,ABCC8:NM_001287174:exon14:c.G1947A:p.K649K,ABCC8:NM_001351295:exon14:c.G2013A:p.K671K,ABCC8:NM_001351296:exon14:c.G1944A:p.K648K,ABCC8:NM_001351297:exon14:c.G1944A:p.K648K	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	1	1120	365	36	0	437	0.163242	.	.	YES	167534	Permanent_neonatal_diabetes_mellitus|Type_2_diabetes_mellitus|not_specified|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|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:CN169374|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1567	0.202077	0.1785	0.1816	0.1202	0.1671	0.1980	0.1587	0.1689	0.2962	0.173064	26756	154602	rs1799858	0.1599	0.1599	0.1565	0.1632	0.2802	0.1593	0.1591	0.2773	0.2760	0.1811	0.1311	0.1863	0.1992	0.1981	0.1185	0.1471	0.1660	0.2802	0.1659	0.1663	0.1609	0.1712	0.2891	0.1642	0.1635	0.2764	0.2713	0.1777	0.1187	0.1581	0.1907	0.1991	0.1888	0.0918	0.1457	0.1552	0.2891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.123867	0.075758	0.101902	0.160819	0.050000	0.129310	0.094512	0.174242	0.15	3647.45	34	chr11	17428382	.	C	T	3647.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.843;DP=570;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.158;SOR=0.694	GT:AD:DP:GQ:PL	0/1:57,64:121:99:1568,0,1394	7	0	3	0
chr11	17430945	17430945	G	A	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon12:c.C1686T:p.H562H,ABCC8:NM_001287174:exon12:c.C1686T:p.H562H,ABCC8:NM_001351295:exon12:c.C1686T:p.H562H,ABCC8:NM_001351296:exon12:c.C1683T:p.H561H,ABCC8:NM_001351297:exon12:c.C1683T:p.H561H	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	8	536	705	273	0	1251	0.538528	.	.	.	167532	Permanent_neonatal_diabetes_mellitus|not_provided|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|Cerebral_edema|not_specified|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:C3661900|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0002181,MONDO:MONDO:0006684,MedGen:C0006114|MedGen:CN169374|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4587	0.429912	0.4311	0.4812	0.3021	0.2844	0.4180	0.4470	0.4546	0.5041	0.426075	65872	154602	rs1799857	0.4459	0.4459	0.4447	0.4471	0.4959	0.4450	0.4446	0.4920	0.4904	0.4747	0.3195	0.4445	0.3087	0.4107	0.4108	0.4535	0.4380	0.4959	0.4417	0.4417	0.4437	0.4395	0.4867	0.4389	0.4377	0.4745	0.4722	0.4801	0.3516	0.3803	0.4438	0.3002	0.4127	0.3537	0.4459	0.4296	0.4867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.414560	0.333333	0.405995	0.438596	0.500000	0.500000	0.393293	0.431298	0.35	14414.9	36	chr11	17430945	.	G	A	14414.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.142;DP=922;ExcessHet=0.0952;FS=0;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=19.48;ReadPosRankSum=0.348;SOR=0.669	GT:AD:DP:GQ:PL	1/1:0,157:157:99:4657,471,0	5	2	3	0
chr11	17474969	17474969	A	G	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon2:c.T207C:p.P69P,ABCC8:NM_001287174:exon2:c.T207C:p.P69P,ABCC8:NM_001351295:exon2:c.T207C:p.P69P,ABCC8:NM_001351296:exon2:c.T207C:p.P69P,ABCC8:NM_001351297:exon2:c.T207C:p.P69P	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	1	302	754	465	0	1684	0.736014	.	.	YES	167535	not_provided|Hyperinsulinemia|Hereditary_hyperinsulinism|Hyperinsulinemic_hypoglycemia,_familial,_1|not_specified|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Permanent_neonatal_diabetes_mellitus	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459|.|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MedGen:CN169374|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4768	0.439297	0.4740	0.4001	0.5634	0.3640	0.3196	0.5018	0.4502	0.4658	0.471094	72832	154602	rs1048099	0.4869	0.4869	0.4871	0.4867	0.6040	0.4859	0.4855	0.5873	0.5805	0.4017	0.5620	0.5426	0.3763	0.3261	0.6040	0.4976	0.4869	0.4688	0.4594	0.4596	0.4669	0.4516	0.5197	0.4566	0.4554	0.5101	0.5062	0.4018	0.5452	0.5197	0.5528	0.3808	0.3171	0.6497	0.5006	0.5081	0.4643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.599698	0.671717	0.631793	0.649123	0.550000	0.534483	0.521341	0.564394	0.55	33224.0	208	chr11	17474969	.	A	G	33224.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-2.05;DP=2297;ExcessHet=5.1594;FS=0;InbreedingCoeff=-0.4141;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-0.455;SOR=0.703	GT:AD:DP:GQ:PL	0/1:117,141:258:99:3292,0,2924	1	2	7	0
chr11	119340699	119340699	C	G	UTR5;UTR3	C1QTNF5;MFRP	NM_015645:c.-302G>C;NM_001278431:c.-302G>C;NM_031433:c.*849G>C	.	.	.	794	710	8	10	0	28	0.019337	.	.	.	318775	Isolated_microphthalmia_6|Retinal_degeneration	MONDO:MONDO:0013293,MedGen:C3150757,OMIM:613517,Orphanet:2542|Human_Phenotype_Ontology:HP:0000546,Human_Phenotype_Ontology:HP:0007632,Human_Phenotype_Ontology:HP:0007863,MONDO:MONDO:0004580,MeSH:D012162,MedGen:C0035304	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00738818	.	.	.	.	.	.	.	.	0.0024515	379	154602	rs185696769	0.0163	0.0146	0.0151	0.0174	0.0310	0.0159	0.0157	0.0294	0.0288	0.0033	0.0072	0.0092	0.0001	0.0108	0.0152	0.0173	0.0122	0.0310	0.0123	0.0124	0.0125	0.0121	0.0309	0.0118	0.0116	0.0269	0.0253	0.0027	0.0263	0.0124	0.0101	0	0.0133	0.0306	0.0175	0.0099	0.0309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	110.47	7	chr11	119340699	.	C	G	110.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.022;DP=27;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.854;SOR=0.799	GT:AD:DP:GQ:PL	0/1:3,5:8:66:118,0,66	5	0	1	4
chr11	121157852	121157852	A	C	exonic	TBCEL-TECTA;TECTA	.	synonymous SNV	TECTA:NM_005422:exon14:c.A4317C:p.L1439L,TBCEL-TECTA:NM_001378761:exon20:c.A5274C:p.L1758L	.	0	1514	8	0	0	8	0.00263505	.	.	.	752490	not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_12|Autosomal_recessive_nonsyndromic_hearing_loss_21	MedGen:C3661900|MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543,Orphanet:90635|MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0002	0	0.0002	0	0	0.0002	0	0.0007	0.0002135	33	154602	rs146742726	0.0001	0.0001	0.0001	0.0002	0.0025	0.0001	0.0001	0.0015	0.0012	2.987e-05	0.0004	0	0	0	0.0025	0.0001	0.0003	0.0003	0.0001	0.0001	0.0001	0.0002	0.0006	9.737e-05	8.252e-05	0.0002	9.899e-05	2.406e-05	0	0.0003	0	0	0	0	0.0002	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1055.43	35	chr11	121157852	.	A	C	1055.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.92;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.343;SOR=0.586	GT:AD:DP:GQ:PL	0/1:45,38:83:99:1067,0,1205	9	0	1	0
chr12	885872	885872	C	G	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_014823:exon17:c.C4327G:p.P1443A,WNK1:NM_001184985:exon19:c.C5848G:p.P1950A,WNK1:NM_018979:exon19:c.C5068G:p.P1690A,WNK1:NM_213655:exon19:c.C5824G:p.P1942A	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	0	1515	6	1	0	8	0.00263331	.	.	.	578505	Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Pseudohypoaldosteronism_type_2C	MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.452	0.124524089538	.	.	5.789e-05	0	8.637e-05	0	0	0	0	0.0004	4.53e-05	7	154602	rs771546256	4.449e-05	4.446e-05	2.451e-05	6.468e-05	0.0006	3.577e-05	3.259e-05	0.0005	0.0005	0	0	0	0	0	0	6.299e-06	3.313e-05	0.0006	3.285e-05	3.94e-05	2.569e-05	4.035e-05	0.0004	1.261e-05	7.98e-06	7.287e-05	3.028e-05	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0.0004	0.074	0.35537	T	1.0	0.28669	T	0.046	0.21875	B	0.027	0.21085	B	0.000115	0.50451	N	0.087473	0.997926	0.44325	D	1.79	0.46772	L	-2.8	0.91076	D	-4.57	0.80256	D	0.239	0.26957	0.003	0.82311	D	0.608	0.86111	D	10	0.122582406	0.23257	T	0.124524	0.80589	D	0.452	0.75211	0.311	0.28451	0.40642006208	0.40259	0.3803628023096669	0.37951	0.448429279266	0.44671	0.400211215019	0.25098	T	0.25618	0.87278	T	-0.134034	0.30846	T	-0.066144	0.65900	T	0.131805352417146	0.15548	T	0.878412	0.59357	D	0.19272722	0.40953	0.21013972	0.45388	0.19272722	0.40953	0.21013972	0.45387	-3.593	0.18263	T	.	.	0.067	0.07412	B	.;.;.;.;.	.;.;.;.;.	2.605014	0.33824	19.45	0.98038702051356297	0.37774	0.97730	0.76719	D	AEFDBI	0.356941	0.44814	N	-0.0776401916282595	0.38374	2.246598	0.0976206796174211	0.44429	2.724841	0.989302221242801	0.31782	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.98	0.65679	3.056000	0.49616	4.239000	0.42696	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.8752:0.1248:0.0	17.388	0.87313	551	0.72115	.;.;.;.;.	.	.	.	.	.	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	1922.43	38	chr12	885872	.	C	G	1922.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=552;ExcessHet=0;FS=1.305;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.889;SOR=0.824	GT:AD:DP:GQ:PL	0/1:70,75:145:99:1934,0,1698	9	0	1	0
chr12	6018369	6018369	T	G	exonic	VWF	.	synonymous SNV	VWF:NM_000552:exon28:c.A5049C:p.A1683A	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	0	780	740	2	0	744	0.322917	.	.	.	266166	not_provided|not_specified|von_Willebrand_disease_type_2|Hereditary_von_Willebrand_disease|von_Willebrand_disease_type_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022509	348	154602	rs79275181	0.0541	0.1753	0.0514	0.0568	0.1039	0.0537	0.0535	0.0948	0.0912	0.0354	0.0602	0.0362	0.0427	0.0518	0.1039	0.0556	0.0445	0.0580	0.0156	0.0580	0.0139	0.0174	0.0276	0.0150	0.0148	0.0233	0.0217	0.0133	0.0179	0.0169	0.0164	0.0276	0.0176	0	0.0152	0.0178	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.35	1791.63	47	chr12	6018369	.	T	G	1791.63	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.074;DP=453;ExcessHet=7.0302;FS=5.947;InbreedingCoeff=-0.5489;MLEAC=7;MLEAF=0.35;MQ=55.28;MQRankSum=-5.858;QD=5.09;ReadPosRankSum=1.81;SOR=0.465	GT:AD:DP:GQ:PL	0/1:41,22:63:99:379,0,1032	3	0	7	0
chr12	6936729	6936737	CAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1462_1470del:p.Q500_Q502del,ATN1:NM_001940:exon5:c.1462_1470del:p.Q500_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1274995	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1316794609	0.0263	0.0264	0.0253	0.0274	0.2237	0.0261	0.0260	0.2193	0.2175	0.2237	0.0764	0.0486	0.0300	0.0092	0.0510	0.0147	0.0377	0.0719	0.0814	0.0825	0.0827	0.0801	0.2309	0.0802	0.0797	0.2269	0.2253	0.2309	0.0045	0.0638	0.0459	0.0345	0.0085	0.0382	0.0170	0.0662	0.0715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	9342.27	64	chr12	6936728	.	ACAGCAGCAG	A	9342.27	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.394;DP=728;ExcessHet=0.0125;FS=0;InbreedingCoeff=0.5286;MLEAC=1;MLEAF=0.056;MQ=59.97;MQRankSum=0;QD=31.56;ReadPosRankSum=-0.501;SOR=0.667	GT:AD:DP:GQ:PL	1/0:1,32:50:99:2168,906,1215	8	0	1	1
chr12	21174718	21174718	-	A	intronic	SLCO1B1	.	.	.	Hyperbilirubinemia, Rotor type, digenic, Digenic recessive	15	41	80	27	63	197	0.62037	.	.	.	331455	not_provided|Rotor_syndrome	MedGen:C3661900|MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3504	0.370607	0.4002	0.3149	0.4197	0.4097	0.3884	0.3918	0.3995	0.4685	0.0001153	3	26028	rs34728625	0.3998	0.3998	0.3974	0.4022	0.4684	0.3989	0.3985	0.4643	0.4627	0.3167	0.3991	0.4148	0.4201	0.3631	0.4098	0.3972	0.3989	0.4684	0.4016	0.4011	0.3981	0.4053	0.6916	0.3988	0.3977	0.6716	0.6634	0.2655	0.1596	0.4269	0.5006	0.4703	0.4053	0.4565	0.4477	0.4209	0.6916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5417.14	65	chr12	21174718	.	T	TA	5417.14	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.14;DP=575;ExcessHet=1.0516;FS=1.524;InbreedingCoeff=0.0588;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-0.046;SOR=0.605	GT:AD:DP:GQ:PL	0/1:7,35:47:39:779,0,39	3	1	6	0
chr12	47845054	47845054	C	A	intronic	VDR	.	.	.	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	84	358	570	510	0	1590	0.689506	.	.	.	1242175	Hepatocellular_carcinoma|not_provided|Vitamin_D-dependent_rickets_type_II_with_alopecia|Periodontitis	Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C3661900|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160|Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5622	0.515375	0.5187	0.6234	0.3909	0.2778	0.5489	0.5375	0.5256	0.5796	0.50879	78660	154602	rs7975232	0.5254	0.5252	0.5231	0.5277	0.6365	0.5244	0.5240	0.6294	0.6264	0.6365	0.4233	0.5667	0.3056	0.5525	0.6244	0.5274	0.5314	0.5759	0.5491	0.5493	0.5492	0.5489	0.6267	0.5459	0.5446	0.6203	0.6176	0.6267	0.5894	0.5041	0.5828	0.2901	0.5503	0.5548	0.5281	0.5518	0.5587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	2892.97	14	chr12	47845054	.	C	A	2892.97	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.247;DP=167;ExcessHet=2.8549;FS=0.74;InbreedingCoeff=-0.2499;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=19.95;ReadPosRankSum=-0.556;SOR=0.831	GT:AD:DP:GQ:PL	0/1:6,12:18:99:361,0,153	1	3	6	0
chr12	47879112	47879112	A	G	exonic	VDR	.	startloss	VDR:NM_001374662:exon2:c.T2C:p.M1?,VDR:NM_000376:exon3:c.T2C:p.M1?,VDR:NM_001017536:exon3:c.T152C:p.M51T,VDR:NM_001374661:exon3:c.T2C:p.M1?,VDR:NM_001017535:exon4:c.T2C:p.M1?	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	6	103	520	893	0	2306	0.917994	.	.	YES	331088	Periodontitis|not_provided|not_specified|Vitamin_D-dependent_rickets_type_II_with_alopecia	Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.503	.	0.6732	0.671526	0.6376	0.7880	0.5203	0.5448	0.6403	0.6138	0.6512	0.7671	0.62549	96702	154602	rs2228570	0.6253	0.6253	0.6210	0.6296	0.7904	0.6242	0.6238	0.7824	0.7791	0.7904	0.5345	0.5612	0.5913	0.6341	0.7321	0.6142	0.6362	0.7660	0.6621	0.6625	0.6611	0.6633	0.7801	0.6587	0.6573	0.7730	0.7701	0.7801	0.7368	0.5776	0.5716	0.5697	0.6440	0.6939	0.6163	0.6895	0.7391	0.0	0.91255	D	0.013	0.63109	D	0.289	0.32288	B	0.275	0.40079	B	0.000031	0.55875	D	0.149012	0.989818	0.81001	P	.	.	.	-3.24	0.93882	D	0.36	0.09460	N	0.34	0.38129	-0.9252	0.44829	T	0.000	0.00011	T	8	8.306137e-06	0.00003	T	.	.	.	0.503	0.78538	.	.	.	.	0.3450707945471	0.34421	0.570787460381	0.53228	0.625708281994	0.56536	T	0.324761	0.69555	T	-0.283926	0.10255	T	-0.036796	0.67917	D	0.0963817504551405	0.11954	T	0.9	0.65058	D	0.68792903	0.77399	0.63474244	0.78679	0.6637955	0.76103	0.5718023	0.75203	-7.866	0.60153	D	.	.	0.232	0.46516	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.762546	0.36239	20.2	0.99030006853180141	0.50786	0.91887	0.54478	D	AEFDBI	0.433632	0.49501	N	0.245728946061445	0.53428	3.511683	0.278389843584115	0.54280	3.593452	0.999289017433705	0.39007	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.58	2.89	0.32713	4.354000	0.59193	6.099000	0.53531	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.8342:0.0:0.1658:0.0	9.950	0.40804	884	0.28482	.;.;.;.;.;.;.	RP1-228P16.1	Spleen	.	.	.	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	0.734642	0.696970	0.716033	0.745614	0.450000	0.810345	0.768293	0.768939	0.8	15331.4	80	chr12	47879112	.	A	G	15331.4	.	AC=16;AF=0.8;AN=20;BaseQRankSum=0.034;DP=717;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=16;MLEAF=0.8;MQ=60;MQRankSum=0;QD=22.45;ReadPosRankSum=-0.417;SOR=0.747	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2336,228,0	0	6	4	0
chr12	49186409	49186409	A	G	exonic	TUBA1A	.	synonymous SNV	TUBA1A:NM_001270399:exon3:c.T276C:p.L92L,TUBA1A:NM_001270400:exon3:c.T171C:p.L57L,TUBA1A:NM_006009:exon3:c.T276C:p.L92L	Lissencephaly 3, Autosomal dominant	0	1483	39	0	0	39	0.0129784	.	.	YES	169001	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.081	0.0141891806235	.	.	0.0008	0.0006	0.0022	0.0016	0.0008	0.0006	0	0.0003	0.0001537	4	26028	rs1065671	2.344e-05	0.0032	2.607e-05	2.078e-05	0.0004	1.687e-05	1.489e-05	6.272e-05	4.025e-05	0	0.0001	0	7.87e-05	0.0002	0.0004	9.027e-06	5.015e-05	2.335e-05	0.0005	0.0063	0.0004	0.0007	0.0008	0.0004	0.0004	0.0003	0.0002	0.0004	0	0.0005	0.0006	0.0008	0.0022	0	0.0004	0.0019	0.0002	0.0	0.91255	D	0.568	0.08870	T	.	.	.	.	.	.	0.000005	0.62929	D	0.000000	1	0.81001	D	.	.	.	0.07	0.61677	T	0.63	0.02404	N	0.271	0.30687	-0.7851	0.56013	T	0.200	0.55541	T	7	0.031925946	0.01334	T	0.014189	0.34139	T	0.081	0.23632	.	.	0.432163118926	0.42834	.	.	.	.	.	.	.	.	.	.	0.0919219	0.63406	D	-0.105737	0.62949	T	0.129836082458496	0.15366	T	0.126887	0.00991	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17275	B	.	.	1.002917	0.13816	10.37	0.94834673285618964	0.25619	0.37202	0.25708	N	AEFDBHCI	0.027320	0.02211	N	-0.0496462723696347	0.39617	2.339276	-0.00778810353366145	0.39363	2.332682	0.999894303823597	0.45129	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.638787	0.57140	0	.	.	5.22	3.26	0.36471	0.765000	0.26211	1.040000	0.23550	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.152:0.264:0.584:0.0	7.144	0.24751	447	0.79583	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.030303	0.001359	0.000000	0.000000	0.008621	0.009146	0.007576	0.05	673.43	43	chr12	49186409	.	A	G	673.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=596;ExcessHet=0;FS=10.71;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.99;MQRankSum=-6.375;QD=2.95;ReadPosRankSum=-2.016;SOR=1.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,31:228:99:0|1:49186409_A_G:685,0,8048:49186409	9	0	1	0
chr12	49186412	49186412	T	C	exonic	TUBA1A	.	synonymous SNV	TUBA1A:NM_001270399:exon3:c.A273G:p.Q91Q,TUBA1A:NM_001270400:exon3:c.A168G:p.Q56Q,TUBA1A:NM_006009:exon3:c.A273G:p.Q91Q	Lissencephaly 3, Autosomal dominant	0	1486	36	0	0	36	0.0119681	.	.	YES	207975	not_specified|TUBA1A-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.244	0.0259933357793	.	.	0.0007	9.617e-05	0.0021	0.0016	0.0006	0.0005	0	0.0003	3.84e-05	1	26028	rs765483435	2.344e-05	0.0033	2.333e-05	2.356e-05	0.0004	1.688e-05	1.489e-05	6.28e-05	2.923e-05	0	0.0001	0	0.0001	0.0002	0.0004	9.03e-06	3.342e-05	3.503e-05	0.0006	0.0057	0.0004	0.0007	0.0008	0.0005	0.0004	0.0004	0.0003	0.0002	0	0.0007	0.0006	0.0008	0.0027	0	0.0004	0.0019	0.0002	0.0	0.91255	D	0.796	0.04117	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.13	0.60973	T	-0.79	0.21860	N	0.199	0.21969	-0.6948	0.60684	T	0.220	0.58358	T	6	0.030884892	0.01218	T	0.025993	0.48929	D	0.244	0.55061	.	.	0.625785243138	0.62273	.	.	.	.	.	.	.	.	.	.	0.0985044	0.64130	D	-0.0962817	0.63685	T	0.169001140042164	0.18512	T	0.268873	0.04498	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00658	B	.	.	1.645712	0.21003	15.01	0.73114639070462317	0.10212	0.18497	0.20284	N	AEFDBHCI	0.052907	0.09487	N	0.0158712336395146	0.42578	2.568006	0.0623802346614472	0.42673	2.585308	0.999997430665141	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.638787	0.57140	0	.	.	5.22	3.4	0.38031	3.210000	0.50832	-0.039000	0.12693	-1.764000	0.00673	1.000000	0.71638	0.057000	0.21958	0.936000	0.47498	0.0:0.7635:0.0:0.2365	8.930	0.34822	447	0.79583	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.010101	0.000000	0.000000	0.000000	0.008621	0.003049	0.007576	0.05	670.43	43	chr12	49186412	.	T	C	670.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.92;DP=600;ExcessHet=0;FS=9.192;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.04;MQRankSum=-6.393;QD=2.93;ReadPosRankSum=-1.674;SOR=1.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:198,31:229:99:0|1:49186409_A_G:682,0,8081:49186409	9	0	1	0
chr12	66541927	66541927	C	T	exonic	GRIP1	.	nonsynonymous SNV	GRIP1:NM_001178074:exon3:c.G160A:p.V54I,GRIP1:NM_001366722:exon3:c.G160A:p.V54I,GRIP1:NM_001366723:exon3:c.G238A:p.V80I,GRIP1:NM_001366724:exon3:c.G238A:p.V80I,GRIP1:NM_001379345:exon3:c.G238A:p.V80I,GRIP1:NM_001379346:exon3:c.G160A:p.V54I,GRIP1:NM_001379347:exon3:c.G238A:p.V80I,GRIP1:NM_001379348:exon3:c.G238A:p.V80I,GRIP1:NM_001379349:exon3:c.G163A:p.V55I,GRIP1:NM_001379351:exon3:c.G163A:p.V55I,GRIP1:NM_021150:exon3:c.G160A:p.V54I	Fraser syndrome, Autosomal recessive	2	1495	25	0	0	25	0.00829187	.	.	.	389156	not_specified|not_provided|Fraser_syndrome_3|Abnormal_brain_morphology	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.236	0.0182897217256	0.0007	0.000399361	0.0012	0.0003	0.0014	0	0.0002	0.0016	0.0011	0.0013	0.001119	173	154602	rs199768740	0.0010	0.0010	0.0009	0.0010	0.0168	0.0009	0.0009	0.0141	0.0131	0.0003	0.0017	0.0063	0	3.744e-05	0.0168	0.0007	0.0020	0.0014	0.0009	0.0009	0.0009	0.0009	0.0016	0.0008	0.0007	0.0011	0.0010	0.0002	0	0.0016	0.0072	0	0	0.0136	0.0009	0.0033	0.0008	0.006	0.61437	D	0.015	0.61642	D	1.0	0.90584	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.76	0.45711	L	0.82	0.48142	T	-0.69	0.24460	N	0.618	0.65930	-0.7051	0.60193	T	0.268	0.63950	T	9	0.010997534	0.00242	T	0.01829	0.40304	T	0.236	0.53931	.	.	0.431952752558	0.42816	0.3142456696913275	0.31337	0.415408216201	0.42198	0.571003317833	0.48820	T	0.28128	0.65400	T	-0.340646	0.05343	T	-0.29217	0.45547	T	0.827088177204132	0.48305	D	0.911709	0.69569	D	0.23895912	0.46780	0.115309395	0.27836	0.183039	0.39552	0.12022018	0.29014	-9.13	0.68530	D	0.370159556025135	0.46576	0.335	0.55590	B	.;.;.;.;.	.;.;.;.;.	3.536596	0.49643	22.8	0.997322703419811	0.82833	0.98409	0.82480	D	AEFI	0.912047	0.87216	D	0.434122937676274	0.63307	4.562121	0.345096248019264	0.58213	3.990521	0.999999982334639	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	7.905000	0.86479	7.702000	0.66341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:1.0:0.0:0.0	19.465	0.94927	721	0.55360	.;PDZ domain;PDZ domain;PDZ domain;PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.025253	0.013587	0.011696	0.000000	0.008621	0.000000	0.003788	0.05	1170.43	33	chr12	66541927	.	C	T	1170.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.09;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-1.736;SOR=0.751	GT:AD:DP:GQ:PL	0/1:59,51:110:99:1182,0,1284	9	0	1	0
chr12	70353913	70353913	-	A	exonic	CNOT2	.	nonframeshift insertion	CNOT2:NM_001199303:exon16:c.1622dupA:p.X541delinsX,CNOT2:NM_014515:exon16:c.1622dupA:p.X541delinsX,CNOT2:NM_001199302:exon17:c.1622dupA:p.X541delinsX	.	.	.	.	.	.	.	.	.	.	.	3863882	not_specified|Intellectual_developmental_disorder_with_nasal_speech,_dysmorphic_facies,_and_variable_skeletal_anomalies	MedGen:CN169374|MONDO:MONDO:0032832,MedGen:C5231426,OMIM:618608	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5036	.	0.0016	0	0	0.0006	0.0211	0.0006	0.0029	0.0003	0.0020246	313	154602	rs751341232	0.1382	0.1516	0.1407	0.1355	0.1436	0.1376	0.1374	0.1430	0.1427	0.0908	0.1159	0.1155	0.1150	0.0887	0.1320	0.1436	0.1351	0.1247	0.2431	0.2567	0.2484	0.2366	0.2839	0.2401	0.2389	0.2795	0.2777	0.1744	0.2612	0.1891	0.3065	0.2514	0.1421	0.3182	0.2839	0.2272	0.2056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	787.51	32	chr12	70353913	.	T	TA	787.51	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.765;DP=395;ExcessHet=5.1594;FS=0.697;InbreedingCoeff=-0.3128;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=7.57;ReadPosRankSum=0.674;SOR=0.857	GT:AD:DP:GQ:PL	0/1:2,4:10:41:90,41,91	7	0	3	0
chr12	79796908	79796908	T	C	exonic	PPP1R12A	.	nonsynonymous SNV	PPP1R12A:NM_001244992:exon16:c.A2167G:p.T723A,PPP1R12A:NM_001143886:exon17:c.A2074G:p.T692A,PPP1R12A:NM_002480:exon17:c.A2335G:p.T779A,PPP1R12A:NM_001143885:exon18:c.A2335G:p.T779A,PPP1R12A:NM_001244990:exon18:c.A2335G:p.T779A	.	432	1078	11	1	0	13	0.00599355	.	.	.	1617562	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.018	0.00487012770318	.	0.00159744	0.0015	0	0.0003	0	0	0.0003	0.0022	0.0094	0.0012419	192	154602	rs201175104	0.0006	0.0006	0.0004	0.0008	0.0083	0.0006	0.0006	0.0078	0.0076	0	0.0004	3.831e-05	2.525e-05	0	0.0033	0.0001	0.0008	0.0083	0.0003	0.0003	0.0002	0.0004	0.0060	0.0002	0.0002	0.0043	0.0037	0	0	0.0001	0	0	0	0.0034	0.0001	0	0.0060	0.117	0.31682	T	0.304	0.23570	T	0.0	0.16609	B	0.0	0.16012	B	0.012556	0.29135	N	0.403521	0.880034	0.44417	D	1.18	0.29980	L	1.21	0.37746	T	-1.66	0.42575	N	0.106	0.13198	-1.0695	0.09523	T	0.049	0.21026	T	10	0.0052392483	0.00114	T	0.00487	0.12224	T	0.018	0.03083	.	.	0.334371577756	0.33041	0.14743659216693095	0.14665	0.128782013625	0.14521	0.346563100815	0.17415	T	0.236569	0.60407	T	-0.518218	0.00451	T	-0.512174	0.21092	T	0.0133029066152891	0.00238	T	0.734227	0.35417	T	0.04064586	0.05840	0.04548814	0.06130	0.04064586	0.05840	0.04548814	0.06129	-4.452	0.31227	T	.	.	0.064	0.02639	B	.;.;.;.;.	.;.;.;.;.	2.155080	0.27454	17.47	0.98668010789882676	0.44428	0.72737	0.35593	D	AEFBI	0.097586	0.19680	N	-0.361977633314355	0.26835	1.467603	-0.184481747318355	0.32106	1.823349	0.0292048284316731	0.13874	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	3.34	0.37357	0.543000	0.22945	1.497000	0.26929	0.665000	0.62972	0.888000	0.31154	1.000000	0.68203	0.998000	0.85391	0.122:0.1361:0.0:0.7419	6.524	0.21486	796	0.45353	.;.;.;.;.	.	.	.	.	.	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	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.1	1698.14	35	chr12	79796908	.	T	C	1698.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.27;DP=446;ExcessHet=0.2348;FS=0.62;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.53;SOR=0.752	GT:AD:DP:GQ:PL	0/1:39,37:76:99:834,0,1063	8	0	2	0
chr12	88079219	88079219	C	T	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon39:c.G5237A:p.R1746Q	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	5	1461	53	3	0	59	0.019792	.	.	YES	131794	Meckel_syndrome,_type_4|Joubert_syndrome|Nephronophthisis|Meckel-Gruber_syndrome|not_specified|not_provided|Retinal_dystrophy|Kidney_disorder|Senior-Loken_syndrome_6|Leber_congenital_amaurosis_10|Bardet-Biedl_syndrome_14|Joubert_syndrome_5|Leber_congenital_amaurosis	MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MedGen:CN169374|MedGen:C3661900|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|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.372	.	0.0073	0.0113818	0.0119	0.0024	0.0052	0.0070	0.0017	0.0082	0.0058	0.0441	0.0107696	1665	154602	rs61941020	0.0099	0.0100	0.0089	0.0109	0.0403	0.0098	0.0097	0.0392	0.0387	0.0018	0.0052	0.0065	0.0060	0.0029	0.0211	0.0085	0.0121	0.0403	0.0071	0.0071	0.0068	0.0074	0.0430	0.0068	0.0066	0.0381	0.0363	0.0017	0	0.0098	0.0055	0.0084	0.0025	0.0137	0.0080	0.0091	0.0430	0.221	0.18889	T	0.275	0.22016	T	0.466	0.36465	P	0.048	0.24975	B	0.000002	0.62929	D	0.056184	0.732881	0.33738	D	1.61	0.41143	L	0.0	0.91478	T	0.11	0.05917	N	0.078	0.28028	-0.4601	0.70064	T	0.241	0.60929	T	10	0.0040839016	0.00080	T	.	.	.	0.372	0.69102	.	.	.	.	0.13677737081922756	0.13601	0.0587496926462	0.06521	0.46582710743	0.34108	T	0.113382	0.43038	T	-0.258765	0.13044	T	-0.112339	0.62424	T	0.0160605788174674	0.00385	T	0.891311	0.62583	D	0.053998865	0.10300	0.056384906	0.10063	0.05842994	0.11753	0.064280845	0.12861	-3.233	0.12888	T	0.2024184062002529	0.26922	0.114	0.27252	B	.;.;.	.;.;.	3.444251	0.47929	22.5	0.99851851418650239	0.93102	0.66180	0.32989	D	AEFBI	0.129836	0.24816	N	-0.208458088981086	0.32787	1.852941	-0.00546298069500753	0.39467	2.340608	0.952729764345514	0.28032	0.732398	0.92422	0	0.653731	0.59785	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.19	4.28	0.50183	2.760000	0.47262	1.427000	0.26414	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.7111:0.0:0.2889	5.178	0.14473	876	0.30350	.;.;.	.	.	.	.	.	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	0.017137	0.010204	0.013587	0.005848	0.000000	0.025862	0.012195	0.049242	0.05	514.43	28	chr12	88079219	.	C	T	514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.967;DP=311;ExcessHet=0;FS=4.815;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=2.26;SOR=0.202	GT:AD:DP:GQ:PL	0/1:19,22:41:99:526,0,441	9	0	1	0
chr12	120978819	120978819	C	G	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon1:c.C51G:p.L17L,HNF1A:NM_001306179:exon1:c.C51G:p.L17L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	2	270	714	536	0	1786	0.767842	.	.	YES	134680	not_provided|Maturity-onset_diabetes_of_the_young_type_3|not_specified|Type_2_diabetes_mellitus|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4175	0.428514	0.4722	0.3467	0.4430	0.3969	0.4887	0.4772	0.5226	0.5739	0.0001537	4	26028	rs1169289	0.4566	0.4566	0.4516	0.4616	0.6297	0.4557	0.4553	0.6126	0.6057	0.3411	0.4475	0.5840	0.4311	0.4803	0.6297	0.4472	0.4625	0.5707	0.4301	0.4302	0.4244	0.4360	0.5691	0.4273	0.4262	0.5513	0.5441	0.3324	0.4382	0.4585	0.5786	0.3892	0.4991	0.6293	0.4561	0.4691	0.5691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.600505	0.586735	0.589674	0.664706	0.400000	0.646552	0.592025	0.595420	0.55	13177.0	100	chr12	120978819	.	C	G	13177.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=1.19;DP=976;ExcessHet=5.1594;FS=1.096;InbreedingCoeff=-0.4141;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.057;SOR=0.636	GT:AD:DP:GQ:PL	1/1:0,108:108:99:3205,323,0	1	2	7	0
chr12	120994314	120994314	G	C	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon4:c.G864C:p.G288G,HNF1A:NM_001306179:exon4:c.G864C:p.G288G	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	1	960	485	76	0	637	0.24912	.	.	YES	134682	Type_2_diabetes_mellitus|not_specified|Maturity-onset_diabetes_of_the_young_type_3|not_provided|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	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:CN169374|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2358	0.18111	0.2788	0.2155	0.4862	0.0010	0.3177	0.3303	0.2558	0.1095	0.0467846	7233	154602	rs56348580	0.2836	0.2840	0.2896	0.2775	0.4254	0.2829	0.2826	0.4203	0.4181	0.2029	0.4254	0.3119	0.0011	0.2745	0.2413	0.3053	0.2696	0.1032	0.2624	0.2624	0.2679	0.2566	0.3670	0.2602	0.2593	0.3590	0.3557	0.2065	0.2297	0.3670	0.3111	0.0035	0.2655	0.2828	0.3009	0.2792	0.1005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.253030	0.277778	0.309783	0.222222	0.250000	0.206897	0.212963	0.162879	0.2	6687.55	153	chr12	120994314	.	G	C	6687.55	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.007;DP=759;ExcessHet=0.0405;FS=1.156;InbreedingCoeff=0.375;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.748;SOR=0.814	GT:AD:DP:GQ:PL	0/1:94,78:174:99:1516,0,2315	7	1	2	0
chr12	120997672	120997672	G	A	intronic	HNF1A	.	.	.	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	1	363	726	432	0	1590	0.686528	0	0.002	.	134677	Maturity_onset_diabetes_mellitus_in_young|not_specified|Maturity-onset_diabetes_of_the_young_type_3|not_provided|Type_2_diabetes_mellitus|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	.	0.2901	0.359625	0.4347	0.1738	0.4572	0.5290	0.4292	0.4231	0.4803	0.5441	0.362634	56064	154602	rs2464195	0.3682	0.3688	0.3624	0.3741	0.5530	0.3674	0.3670	0.5370	0.5305	0.1357	0.4026	0.5062	0.5242	0.3648	0.5530	0.3524	0.3779	0.5169	0.3174	0.3175	0.3086	0.3265	0.5133	0.3150	0.3140	0.4964	0.4896	0.1444	0.3786	0.3918	0.5026	0.4905	0.3844	0.5748	0.3557	0.3706	0.5133	.	.	.	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.047	0.01911	-1.0274	0.21299	T	0.000	0.00011	T	6	2.2227126e-05	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234108	0.60106	T	-0.915089	0.00000	T	-0.943419	0.00283	T	0.0192097227377621	0.00628	T	0.430157	0.11673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.	.	-0.772248	0.01163	0.055	0.57032435668430348	0.05680	0.00885	0.03488	N	AEFDBI	0.146919	0.27048	N	-1.81151059978301	0.00518	0.02228144	-2.09924087502019	0.00187	0.008236552	0.999998004955925	0.74766	0.038988	0.00246	2	0.037452	0.00068	0	0.059349	0.00372	0	0.058706	0.01089	0	.	.	4.49	-8.98	0.00647	-2.145000	0.01382	-2.922000	0.03227	-2.782000	0.00189	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1271:0.2749:0.598:0.0	13.207	0.59229	373	0.84140	.	C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs2464195	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	17939.0	33	chr12	120997672	.	G	A	17939.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.13;DP=1215;ExcessHet=2.8549;FS=0.538;InbreedingCoeff=-0.25;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=16.58;ReadPosRankSum=-0.506;SOR=0.775	GT:AD:DP:GQ:PL	0/1:71,84:155:99:2234,0,1553	3	1	6	0
chr12	123744756	123744756	G	A	exonic	ATP6V0A2	.	nonsynonymous SNV	ATP6V0A2:NM_012463:exon12:c.G1486A:p.A496T	Cutis laxa, autosomal recessive, type IIA, Autosomal recessive;Wrinkly skin syndrome, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	177270	not_provided|not_specified|ALG9_congenital_disorder_of_glycosylation|Inborn_genetic_diseases|ATP6V0A2-related_disorder|Cutis_laxa_with_osteodystrophy	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012117,MedGen:C2931006,OMIM:608776,Orphanet:79328|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0018163,MedGen:C0268355,OMIM:219200,Orphanet:357058	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.079	0.041143854896	.	0.00159744	0.0013	0	0.0003	0.0001	0	0.0008	0.0033	0.0062	0.0011966	185	154602	rs143142641	0.0008	0.0008	0.0006	0.0010	0.0066	0.0007	0.0007	0.0062	0.0060	8.961e-05	0.0006	0.0014	0	0	0.0017	0.0004	0.0007	0.0066	0.0005	0.0005	0.0003	0.0007	0.0062	0.0004	0.0004	0.0045	0.0039	2.407e-05	0	0.0004	0.0014	0.0004	0	0	0.0005	0.0005	0.0062	0.518	0.07307	T	0.572	0.08746	T	0.002	0.09854	B	0.001	0.04355	B	0.037805	0.01839	N	2.173870	1	0.08975	N	0	0.06538	N	-1.85	0.84267	D	-0.14	0.09135	N	0.069	0.04188	-0.8099	0.54556	T	0.283	0.65458	T	10	0.013159156	0.00280	T	0.041144	0.59768	D	0.079	0.23065	.	.	0.225902525712	0.22197	0.45341008408235595	0.45259	0.155586269279	0.17559	0.221252664924	0.01383	T	0.14563	0.48284	T	-0.557043	0.00264	T	-0.571011	0.15357	T	0.0050169609138208	0.00054	T	0.441356	0.12220	T	0.016524712	0.00203	0.033193264	0.02174	0.013304375	0.00055	0.031012543	0.01631	-3.695	0.19244	T	.	.	0.065	0.01909	B	.	.	-0.149271	0.03360	0.596	0.70530275826382138	0.09326	0.13779	0.18047	N	AEFDBCI	0.045268	0.07385	N	-1.54998895494316	0.01535	0.06702592	-1.58266884174898	0.01761	0.08012034	0.0318883539184954	0.14026	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	-4.18	0.03584	-0.148000	0.10203	-1.039000	0.06521	-2.148000	0.00374	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3262:0.1989:0.2726:0.2024	0.471	0.00496	345	0.85689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.005035	0.000000	0.002717	0.000000	0.050000	0.000000	0.003049	0.022727	0.05	2689.43	42	chr12	123744756	.	G	A	2689.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.481;DP=520;ExcessHet=0;FS=1.742;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-1.217;SOR=0.677	GT:AD:DP:GQ:PL	0/1:94,103:197:99:2701,0,2340	9	0	1	0
chr13	38861420	38861420	-	TC	intronic	FREM2	.	.	.	Fraser syndrome, Autosomal recessive	16	1415	76	15	0	106	0.0361035	.	.	.	191739	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0190	0.00998403	0.0170	0.0089	0.0128	0	0.0150	0.0238	0.0275	0.0068	0.0031505	82	26028	rs1399473815	0.0204	0.0205	0.0206	0.0202	0.0562	0.0202	0.0201	0.0511	0.0492	0.0099	0.0150	0.0627	7.558e-05	0.0142	0.0562	0.0217	0.0231	0.0070	0.0168	0.0168	0.0170	0.0165	0.0208	0.0162	0.0160	0.0199	0.0195	0.0091	0.0428	0.0164	0.0649	0.0002	0.0129	0.0680	0.0208	0.0270	0.0068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1128.39	37	chr13	38861420	.	T	TTC	1128.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.9;DP=392;ExcessHet=0;FS=1.036;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.84;ReadPosRankSum=0.145;SOR=0.922	GT:AD:DP:GQ:PL	0/1:36,31:67:99:1140,0,1387	9	0	1	0
chr13	51946299	51946299	C	T	exonic	ATP7B	.	synonymous SNV	ATP7B:NM_001005918:exon9:c.G2424A:p.L808L,ATP7B:NM_001330579:exon11:c.G2793A:p.L931L,ATP7B:NM_001330578:exon12:c.G2811A:p.L937L,ATP7B:NM_000053:exon13:c.G3045A:p.L1015L,ATP7B:NM_001243182:exon14:c.G2712A:p.L904L	Wilson disease, Autosomal recessive	4	1433	76	9	0	94	0.0317568	.	.	YES	44380	not_specified|Wilson_disease|Inborn_genetic_diseases	MedGen:CN169374|MONDO:MONDO:0010200,MedGen:C0019202,OMIM:277900,Orphanet:905|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0295	0.0123802	0.0549	0.0109	0.0552	0.0004	0.0860	0.0846	0.0588	0.0153	0.0238225	3683	154602	rs1801248	0.0353	0.0353	0.0361	0.0345	0.0504	0.0351	0.0349	0.0448	0.0427	0.0063	0.0172	0.0310	7.72e-05	0.0258	0.0504	0.0408	0.0296	0.0107	0.0255	0.0255	0.0262	0.0246	0.0400	0.0248	0.0245	0.0388	0.0383	0.0071	0.0746	0.0208	0.0297	0	0.0248	0.0510	0.0400	0.0237	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.046465	0.015464	0.058424	0.091176	0.000000	0.043103	0.024390	0.011364	0.1	3487.14	35	chr13	51946299	.	C	T	3487.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.83;DP=561;ExcessHet=0.2348;FS=1.697;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.167;SOR=0.817	GT:AD:DP:GQ:PL	0/1:80,67:147:99:1820,0,2430	8	0	2	0
chr14	23389063	23389063	G	-	intronic	MYH6	.	.	.	Atrial septal defect 3;Cardiomyopathy, dilated, 1EE;Cardiomyopathy, hypertrophic, 14	.	.	.	.	.	.	.	.	.	.	45290	Hypertrophic_cardiomyopathy_2|Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype|not_specified|Hypertrophic_cardiomyopathy_14|Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy	MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|MedGen:CN239310|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0013197,MedGen:C2750467,OMIM:613251|Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4104	0.6267	0.3795	0.4432	0.3604	0.3688	0.3815	0.4476	0.0001537	4	26028	rs1064795889	0.3084	0.3121	0.3093	0.3074	0.6162	0.3074	0.3071	0.6088	0.6057	0.6162	0.2497	0.2666	0.2601	0.2543	0.3139	0.2981	0.3229	0.3503	0.3533	0.3351	0.3610	0.3452	0.6120	0.3504	0.3492	0.6055	0.6028	0.6120	0.3180	0.2356	0.2344	0.1573	0.1787	0.2645	0.2170	0.3369	0.3167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6678.09	46	chr14	23389062	.	AG	A	6678.09	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.58;DP=541;ExcessHet=5.1594;FS=1.829;InbreedingCoeff=-0.4141;MLEAC=5;MLEAF=0.25;MQ=59.99;MQRankSum=0;QD=16.17;ReadPosRankSum=0.843;SOR=0.573	GT:AD:DP:GQ:PL	1/0:2,32:44:99:1011,226,276	5	0	5	0
chr14	23389062	23389062	-	G	intronic	MYH6	.	.	.	Atrial septal defect 3;Cardiomyopathy, dilated, 1EE;Cardiomyopathy, hypertrophic, 14	.	.	.	.	.	.	.	.	.	.	175563	Atrial_septal_defect|not_specified|Hypertrophic_cardiomyopathy_14|Dilated_Cardiomyopathy,_Dominant|Hypertrophic_cardiomyopathy|Cardiomyopathy|not_provided	Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478|MedGen:CN169374|MONDO:MONDO:0013197,MedGen:C2750467,OMIM:613251|MedGen:CN239310|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	0.0003	0.0039	0.0059	0.0036	0.0031	0.0056	0.0123	0.0001153	3	26028	rs730880363	0.0037	0.0064	0.0032	0.0041	0.0132	0.0036	0.0035	0.0106	0.0103	0.0004	0.0052	0.0042	0.0070	0.0075	0.0132	0.0028	0.0036	0.0113	0.0071	0.0072	0.0067	0.0075	0.0216	0.0067	0.0066	0.0176	0.0162	0.0013	0.0074	0.0094	0.0096	0.0148	0.0058	0.0331	0.0096	0.0119	0.0216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	6678.09	46	chr14	23389062	.	A	AG	6678.09	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.58;DP=541;ExcessHet=5.1594;FS=1.829;InbreedingCoeff=-0.4141;MLEAC=2;MLEAF=0.1;MQ=59.99;MQRankSum=0;QD=16.17;ReadPosRankSum=0.843;SOR=0.573	GT:AD:DP:GQ:PL	0/1:2,10:44:99:1011,850,1107	8	0	2	0
chr14	23419114	23419114	-	G	intronic	MYH7	.	.	.	Cardiomyopathy, dilated, 1S, Autosomal dominant;Cardiomyopathy, hypertrophic, 1, Autosomal dominant;Laing distal myopathy, Autosomal dominant;Left ventricular noncompaction 5, Autosomal dominant;Myopathy, myosin storage, autosomal dominant, Autosomal dominant;Myopathy, myosin storage, autosomal recessive, Autosomal recessive;Scapuloperoneal syndrome, myopathic type, Autosomal dominant	26	775	566	155	0	876	0.361088	.	.	.	45302	not_provided|Primary_familial_hypertrophic_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.337061	.	.	.	.	.	.	.	.	0.0472115	7299	154602	rs34598192	0.3369	0.3402	0.3403	0.3337	0.6339	0.3361	0.3357	0.6261	0.6230	0.6339	0.1960	0.3975	0.0549	0.2711	0.3041	0.3586	0.3420	0.2235	0.4076	0.4081	0.4199	0.3948	0.6311	0.4049	0.4038	0.6247	0.6221	0.6311	0.4068	0.2827	0.3834	0.0797	0.2623	0.3103	0.3624	0.4006	0.2148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6694.11	78	chr14	23419114	.	T	TG	6694.11	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.044;DP=598;ExcessHet=2.8389;FS=1.144;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=1.09;SOR=0.814	GT:AD:DP:GQ:PL	0/1:51,60:111:99:2089,0,1728	5	0	5	0
chr14	61738101	61738101	G	T	exonic	HIF1A	.	nonsynonymous SNV	HIF1A:NM_001243084:exon10:c.G1336T:p.D446Y,HIF1A:NM_001530:exon10:c.G1264T:p.D422Y,HIF1A:NM_181054:exon10:c.G1264T:p.D422Y	.	453	1050	15	4	0	23	0.0108337	.	.	YES	714184	Enchondromatosis|not_provided	Human_Phenotype_Ontology:HP:0005701,MONDO:MONDO:0008145,MedGen:C0014084,OMIM:166000,Orphanet:296|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.120	.	0.0025	0.00339457	0.0042	0.0010	0.0052	0.0005	0.0003	0.0029	0.0059	0.0176	0.0038292	592	154602	rs149348765	0.0031	0.0031	0.0027	0.0035	0.0135	0.0030	0.0030	0.0128	0.0126	0.0005	0.0046	0.0046	0	0.0005	0.0098	0.0024	0.0039	0.0135	0.0026	0.0026	0.0026	0.0025	0.0119	0.0024	0.0023	0.0094	0.0085	0.0005	0.0011	0.0058	0.0038	0	0.0003	0.0210	0.0028	0.0038	0.0119	0.181	0.34982	T	0.274	0.44905	T	0.592	0.39119	P	0.285	0.40506	B	0.896885	0.07331	N	1.042340	0.999185	0.46274	D	1.67	0.42885	L	0.72	0.53516	T	-0.1	0.09135	N	0.421	0.46649	-1.0418	0.16770	T	0.088	0.33996	T	10	0.0072448254	0.00165	T	.	.	.	0.120	0.33359	.	.	0.689415230096	0.68675	0.36735301686045585	0.36649	0.206240801215	0.23047	0.452856063843	0.32334	T	0.306052	0.67827	T	-0.366052	0.03799	T	-0.287553	0.46027	T	0.0361810151235074	0.03013	T	0.938006	0.76748	D	0.104620844	0.24733	0.08811645	0.20524	0.104620844	0.24732	0.08811645	0.20524	-3.748	0.20029	T	.	.	0.098	0.16973	B	.;.;.;.;.	.;.;.;.;.	4.278755	0.65166	24.8	0.98733365136089013	0.45393	0.99019	0.90044	D	AEFDGBHIJ	0.787473	0.71724	D	0.295016695125541	0.55897	3.753701	0.42240438769022	0.62963	4.52103	0.999999694060353	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.41	5.41	0.78313	5.380000	0.65953	9.810000	0.81742	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0749:0.0:0.9251:0.0	12.867	0.57332	679	0.60090	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.008152	0.002924	0.000000	0.034483	0.024390	0.026515	0.05	910.43	41	chr14	61738101	.	G	T	910.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.744;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.142;SOR=0.828	GT:AD:DP:GQ:PL	0/1:30,36:66:99:922,0,772	9	0	1	0
chr14	61740839	61740839	C	T	exonic	HIF1A	.	nonsynonymous SNV	HIF1A:NM_001243084:exon12:c.C1816T:p.P606S,HIF1A:NM_001530:exon12:c.C1744T:p.P582S,HIF1A:NM_181054:exon12:c.C1744T:p.P582S	.	426	797	258	41	0	340	0.175801	.	.	.	2736349	Cholangiocarcinoma|not_provided	Human_Phenotype_Ontology:HP:0030153,MONDO:MONDO:0019087,MeSH:D018281,MedGen:C0206698,Orphanet:70567|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.249	.	0.0877	0.0730831	0.0897	0.0381	0.0636	0.0437	0.0416	0.1068	0.1002	0.1139	0.0896301	13857	154602	rs11549465	0.0973	0.0973	0.0962	0.0983	0.1978	0.0968	0.0967	0.1883	0.1844	0.0355	0.0652	0.1605	0.0484	0.0413	0.1978	0.1014	0.1054	0.1100	0.0781	0.0782	0.0804	0.0757	0.1157	0.0769	0.0764	0.1077	0.1046	0.0361	0.1305	0.0843	0.1509	0.0481	0.0358	0.1599	0.1032	0.0970	0.1157	0.15	0.26300	T	0.107	0.37730	T	0.243	0.36725	B	0.225	0.42306	B	0.000163	0.48594	D	0.218644	0.004354	0.42787	P	0.2	0.09183	N	-1.98	0.85247	D	-3.12	0.67705	D	0.061	0.03502	-0.7937	0.55514	T	0.014	0.05561	T	9	0.002049476	0.00029	T	.	.	.	0.249	0.55752	.	.	.	.	0.2703759875243241	0.26950	0.18754449635	0.21074	0.613483905792	0.54808	T	0.791418	0.94585	D	-0.487373	0.00672	T	-0.386001	0.35020	T	0.0528159558020239	0.05987	T	0.89801	0.64352	D	0.20964694	0.43238	0.16643055	0.38449	0.20964694	0.43238	0.16643055	0.38448	-7.11	0.54832	T	.	.	0.105	0.27373	B	.;.;.;.;.	.;.;.;.;.	2.583508	0.33503	19.36	0.99454245710225975	0.65427	0.89101	0.49367	D	AEFDGBCI	0.388942	0.46836	N	-0.0795620720085574	0.38289	2.240306	0.0864541640548502	0.43865	2.679561	0.999999994130304	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.72	4.82	0.61641	2.789000	0.47504	3.324000	0.37570	0.594000	0.32500	0.799000	0.29708	1.000000	0.68203	0.997000	0.79791	0.1422:0.788:0.0:0.0698	9.682	0.39239	682	0.59757	.;.;.;.;.	FLJ22447|FLJ22447	Lung|Muscle_Skeletal	.	.	rs11549465	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	0.164653	0.121212	0.160326	0.228070	0.350000	0.232759	0.155488	0.143939	0.1	4714.14	33	chr14	61740839	.	C	T	4714.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.25;DP=679;ExcessHet=0.2348;FS=0.754;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.3;SOR=0.745	GT:AD:DP:GQ:PL	0/1:101,83:184:99:2039,0,2562	8	0	2	0
chr14	92071009	92071009	-	G	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.68_69insC:p.P25Tfs*24,ATXN3:NM_001164774:exon3:c.233_234insC:p.P80Tfs*24,ATXN3:NM_001164777:exon3:c.113_114insC:p.P40Tfs*24,ATXN3:NM_001164776:exon4:c.278_279insC:p.P95Tfs*24,ATXN3:NM_001164778:exon6:c.431_432insC:p.P146Tfs*24,ATXN3:NM_001164779:exon6:c.553_554insC:p.G185Afs*12,ATXN3:NM_001164780:exon7:c.379_380insC:p.G127Afs*12,ATXN3:NM_001127697:exon8:c.763_764insC:p.G255Afs*12,ATXN3:NM_001164781:exon8:c.706_707insC:p.G236Afs*12,ATXN3:NM_001127696:exon9:c.871_872insC:p.G291Afs*12,ATXN3:NM_030660:exon9:c.751_752insC:p.G251Afs*12,ATXN3:NM_004993:exon10:c.916_917insC:p.G306Afs*12	Machado-Joseph disease, Autosomal dominant	98	926	380	118	0	616	0.249595	.	.	.	390136	ATXN3-related_disorder|Azorean_disease|not_specified|not_provided	.|MONDO:MONDO:0007182,MedGen:C0024408,OMIM:109150,Orphanet:98757|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3624	0.1685	0.3080	0.2350	0.3289	0.3820	0.3723	0.5076	0.0120639	314	26028	rs763461489	0.3602	0.2726	0.3598	0.3606	0.4269	0.3591	0.3586	0.4211	0.4187	0.2335	0.2356	0.4259	0.4269	0.3289	0.3968	0.3614	0.3556	0.3795	0.4786	0.4687	0.4802	0.4770	0.5397	0.4742	0.4724	0.5165	0.5072	0.4754	0.5068	0.4371	0.5341	0.4620	0.4534	0.4936	0.4840	0.4802	0.5397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	11893.0	62	chr14	92071009	.	C	CG	11893.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.81;DP=780;ExcessHet=5.1594;FS=0.555;InbreedingCoeff=-0.4155;MLEAC=9;MLEAF=0.45;MQ=59.49;MQRankSum=-1.283;QD=19.46;ReadPosRankSum=-0.33;SOR=0.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,40:85:99:.:.:1171,0,1338:.	2	1	7	0
chr14	95115562	95115562	G	A	intronic	DICER1	.	.	.	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, Autosomal dominant;Pleuropulmonary blastoma, Autosomal dominant;Rhabdomyosarcoma, embryonal, 2	23	1096	320	83	0	486	0.181479	.	.	.	505595	not_provided|DICER1-related_tumor_predisposition|not_specified	MedGen:C3661900|MONDO:MONDO:0100216,MedGen:C3839822,Orphanet:284343|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.165735	.	.	.	.	.	.	.	.	0.0356852	5517	154602	rs2275182	0.1908	0.1888	0.1943	0.1875	0.3161	0.1901	0.1899	0.3105	0.3082	0.3161	0.1109	0.2679	0.0414	0.1976	0.2523	0.2055	0.1914	0.0828	0.2199	0.2200	0.2255	0.2140	0.3112	0.2179	0.2171	0.3067	0.3049	0.3112	0.2314	0.1592	0.2689	0.0394	0.1958	0.2891	0.2018	0.2343	0.0806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1569.96	11	chr14	95115562	.	G	A	1569.96	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.084;DP=129;ExcessHet=2.8549;FS=0;InbreedingCoeff=-0.2501;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=-0.652;SOR=0.565	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,2:10:48:.:.:48,0,268:.	3	1	6	0
chr15	27983407	27983407	C	T	exonic	OCA2	.	nonsynonymous SNV	OCA2:NM_001300984:exon13:c.G1369A:p.A457T,OCA2:NM_000275:exon14:c.G1441A:p.A481T	Albinism, brown oculocutaneous, Autosomal recessive;Albinism, oculocutaneous, type II, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	YES	15993	not_specified|not_provided|Tyrosinase-positive_oculocutaneous_albinism|OCA2-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.720	.	0.0013	0.00798722	0.0078	9.61e-05	0.0016	0.0303	0.0473	0.0047	0.0176	0.0009	0.0067528	1044	154602	rs74653330	0.0047	0.0047	0.0048	0.0046	0.0527	0.0046	0.0046	0.0508	0.0501	0.0002	0.0027	0.0177	0.0527	0.0458	0.0021	0.0012	0.0051	0.0009	0.0067	0.0067	0.0044	0.0090	0.0342	0.0063	0.0062	0.0300	0.0285	0.0003	0	0.0027	0.0173	0.0342	0.0545	0	0.0019	0.0052	0.0012	0.192	0.20988	T	0.436	0.13634	T	0.946	0.53363	P	0.621	0.51426	P	0.000000	0.84330	D	0.000000	0.999973	0.53665	A	2.755	0.80505	M	-1.67	0.82806	D	-2.12	0.48184	N	0.888	0.95608	-0.1744	0.78321	T	0.293	0.66508	T	9	0.014360964	0.00302	T	.	.	.	0.720	0.90101	.	.	0.918188717046	0.91736	0.9407718962271029	0.94058	0.4607494585	0.45631	0.729123711586	0.71378	T	0.574765	0.85979	D	-0.0541888	0.43808	T	0.211917	0.83764	D	0.0675672815574518	0.08305	T	0.990401	0.97014	D	0.2687473	0.49947	0.29853162	0.55887	0.28667596	0.51682	0.27513763	0.53447	-10.12	0.77077	D	0.5161700043131197	0.58914	0.208	0.52961	B	.;.	.;.	4.957557	0.81941	27.7	0.99912961034017145	0.98167	0.95027	0.63172	D	AEFDGBI	0.780824	0.71260	D	0.494835249542985	0.66786	4.99557	0.518449324302373	0.69234	5.331151	0.999999902065305	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.06	5.06	0.67838	5.396000	0.66042	7.604000	0.61663	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.427	0.87420	958	0.09170	.;Citrate transporter-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	0.002518	0.000000	0.001359	0.000000	0.000000	0.008621	0.009146	0.003788	0.05	1251.43	33	chr15	27983407	.	C	T	1251.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.958;DP=418;ExcessHet=0;FS=1.549;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.721;SOR=0.665	GT:AD:DP:GQ:PL	0/1:51,56:107:99:1263,0,1182	9	0	1	0
chr15	34791308	34791311	CACA	-	ncRNA_intronic	LOC101928174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	322319	Cardiovascular_phenotype|Atrial_septal_defect_5|Hypertrophic_cardiomyopathy_11|Dilated_cardiomyopathy_1R|not_specified|not_provided	MedGen:CN230736|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478|MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.244808	.	.	.	.	.	.	.	.	0.0038036	99	26028	rs572654192	0.0856	0.1084	0.0840	0.0873	0.0998	0.0852	0.0850	0.0966	0.0953	0.0998	0.0810	0.1028	0.0190	0.1503	0.0970	0.0833	0.0926	0.0968	0.1173	0.1181	0.1162	0.1185	0.1258	0.1158	0.1151	0.1191	0.1182	0.1072	0.0878	0.1032	0.1344	0.0167	0.1954	0.1007	0.1214	0.1224	0.1258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	22028.3	59	chr15	34791307	.	TCACA	T	22028.3	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.545;DP=1400;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=33.13;ReadPosRankSum=-0.415;SOR=0.688	GT:AD:DP:GQ:PL	0/1:0,38:79:99:2763,1192,1266	6	1	3	0
chr15	45110685	45110685	G	C	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon8:c.C908G:p.P303R,DUOX2:NM_014080:exon8:c.C908G:p.P303R	Thyroid dyshormonogenesis 6, Autosomal recessive	4	1465	49	4	0	57	0.0190827	.	.	.	255240	not_provided|Thyroid_dyshormonogenesis_6|not_specified	MedGen:C3661900|MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.790	.	0.0126	0.00359425	0.0107	0.0028	0.0050	0	0.0049	0.0171	0.0067	0.0019	0.0098576	1524	154602	rs151261408	0.0139	0.0139	0.0142	0.0137	0.0162	0.0138	0.0137	0.0160	0.0159	0.0020	0.0082	0.0243	2.519e-05	0.0054	0.0158	0.0162	0.0125	0.0021	0.0106	0.0106	0.0120	0.0091	0.0165	0.0102	0.0100	0.0157	0.0154	0.0029	0.0232	0.0111	0.0236	0.0002	0.0057	0.0068	0.0165	0.0133	0.0025	0.001	0.78490	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	3.75	0.95014	H	-0.77	0.73523	T	-8.16	0.96764	D	0.356	0.70263	0.271	0.87079	D	0.458	0.78918	T	9	0.012326807	0.00265	T	.	.	.	0.790	0.93068	.	.	.	.	0.8087437145211674	0.80829	0.383896752763	0.39705	0.427370041609	0.28850	T	0.349913	0.90876	T	-0.24199	0.15095	T	-0.106098	0.62920	T	0.0640565316214799	0.07790	T	0.933707	0.75150	D	0.92067504	0.93314	0.9358201	0.97491	0.9621561	0.97497	0.93850803	0.97669	-10.538	0.77065	D	0.8325080723904119	0.90299	0.309	0.53663	B	.;.	.;.	4.907553	0.80710	27.4	0.99873487626043034	0.95076	0.99440	0.96055	D	AEFGBI	0.842693	0.75979	D	0.942693153149398	0.93687	12.20866	0.868629877947345	0.94055	12.47237	0.999999999974267	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	5.58	5.58	0.84361	7.191000	0.77294	11.564000	0.93246	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.551	0.91018	600	0.68026	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase domain	SPATA5L1	Adipose_Subcutaneous	.	.	.	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	0.012677	0.010309	0.005435	0.014970	0.150000	0.000000	0.030675	0.011364	0.1	2737.14	33	chr15	45110685	.	G	C	2737.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.165;DP=555;ExcessHet=0.2348;FS=1.019;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.88;MQRankSum=1.38;QD=12.06;ReadPosRankSum=-0.082;SOR=0.624	GT:AD:DP:GQ:PL	0/1:50,63:113:99:1476,0,1242	8	0	2	0
chr15	59256276	59256276	C	T	intronic	MYO1E	.	.	.	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	26	0	7	1489	0	2985	1	0	0	.	971023	not_specified|not_provided|Focal_segmental_glomerulosclerosis_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9775	0.97504	0.9939	0.9331	0.9973	1	1	0.9998	0.9967	0.9999	0.950408	146935	154602	rs4508371	0.9981	0.9980	0.9978	0.9983	1.0000	0.9967	0.9961	0.9983	0.9976	0.9313	0.9973	1.0000	1.0000	1.0000	0.9970	0.9999	0.9960	0.9999	0.9812	0.9812	0.9812	0.9813	1.0000	0.9771	0.9753	0.9934	0.9908	0.9344	1.0000	0.9945	1.0000	1.0000	1.0000	0.9864	0.9997	0.9887	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	1.0	40902.2	147	chr15	59256276	.	C	T	40902.2	.	AC=20;AF=1;AN=20;BaseQRankSum=2.57;DP=1498;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=20;MLEAF=1;MQ=60;MQRankSum=0;QD=27.82;ReadPosRankSum=0.755;SOR=0.158	GT:AD:DP:GQ:PL	1/1:0,179:179:99:4955,537,0	0	10	0	0
chr15	76753800	76753800	T	C	intronic	SCAPER	.	.	.	.	66	1398	50	8	0	66	0.0230608	0.0002	0.038	.	3191647	Retinal_dystrophy|SCAPER-related_disorder	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|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0147	0.00419329	0.0111	0.0043	0.0059	0.0001	0.0055	0.0153	0.0101	0.0101	0.0113453	1754	154602	rs139187840	0.0165	0.0165	0.0166	0.0164	0.0193	0.0163	0.0163	0.0190	0.0190	0.0024	0.0065	0.0062	5.051e-05	0.0050	0.0165	0.0193	0.0154	0.0099	0.0111	0.0111	0.0124	0.0098	0.0183	0.0107	0.0105	0.0174	0.0171	0.0034	0.0197	0.0096	0.0092	0	0.0045	0.0136	0.0183	0.0118	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1209.43	35	chr15	76753800	.	T	C	1209.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.114;DP=414;ExcessHet=0;FS=0.763;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=2.01;SOR=0.809	GT:AD:DP:GQ:PL	0/1:51,52:103:99:1221,0,1307	9	0	1	0
chr16	15725134	15725134	-	A	UTR3	NDE1	NM_001143979:c.*883_*884insA;NM_017668:c.*883_*884insA	.	.	Lissencephaly 4 (with microcephaly), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	324437	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs757597336	0.1707	0.1347	0.1695	0.1717	0.2049	0.1696	0.1691	0.2010	0.1994	0.1259	0.1616	0.1633	0.1415	0.1620	0.1554	0.1727	0.1654	0.2049	0.0641	0.0652	0.0636	0.0646	0.1044	0.0629	0.0625	0.1016	0.1005	0.1044	0.1014	0.0466	0.0431	0.0185	0.0385	0.0296	0.0487	0.0662	0.0833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1358.7	137	chr16	15725134	.	T	TA	1358.7	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.481;DP=1231;ExcessHet=2.8389;FS=3.628;InbreedingCoeff=-0.3619;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=-0.384;SOR=0.443	GT:AD:DP:GQ:PL	0/1:90,12:120:8:8,0,1996	7	0	3	0
chr16	17470643	17470643	C	T	exonic	XYLT1	.	nonsynonymous SNV	XYLT1:NM_022166:exon1:c.G154A:p.G52S	Desbuquois dysplasia 2, Autosomal recessive	335	1186	1	0	0	1	0.000421408	.	.	.	573744	XYLT1-related_disorder|not_provided|Desbuquois_dysplasia_1	.|MedGen:C3661900|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450,Orphanet:1425	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.027	.	.	.	0.0083	0	0	0	0	0	0	0.0108	0.0001423	22	154602	rs766521030	0.0014	0.0012	0.0014	0.0014	0.0020	0.0014	0.0013	0.0016	0.0015	0.0002	0.0002	0	0	0	0	0.0015	0.0013	0.0020	0.0009	0.0009	0.0010	0.0009	0.0017	0.0008	0.0007	0.0012	0.0012	0.0006	0	0.0002	0	0	0.0001	0	0.0015	0.0005	0.0017	0.2	0.20381	T	0.646	0.06836	T	0.002	0.09854	B	0.0	0.01387	B	0.762402	0.06548	U	1.272680	0.999997	0.08975	N	0	0.06538	N	3.72	0.04014	T	-0.02	0.07299	N	0.074	0.04790	-0.9040	0.47561	T	0.008	0.02720	T	10	0.004581392	0.00095	T	.	.	.	0.027	0.05988	.	.	0.0675242888579	0.06100	0.3027944210675014	0.30192	0.218589782326	0.24401	0.880343794823	0.94006	D	0.011955	0.10589	T	-0.644677	0.00078	T	-0.704978	0.05558	T	0.0144837201733808	0.00294	T	.	.	.	0.08412715	0.19459	0.10554958	0.25375	0.08412715	0.19458	0.10554958	0.25375	-5.719	0.43862	T	.	.	0.104	0.18705	B	.	.	2.191441	0.27940	17.63	0.9553868137550926	0.27183	0.03860	0.09219	N	AEFDBHCI	0.040586	0.06057	N	-1.09693957502039	0.06699	0.3091363	-1.12061787919747	0.07306	0.3549148	0.99994262170587	0.47345	0.455138	0.09556	0	0.552344	0.17405	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	1.62	0.456	0.15868	0.110000	0.15273	2.751000	0.34535	0.259000	0.18387	0.002000	0.15269	1.000000	0.68203	0.092000	0.17891	0.0:0.7681:0.0:0.2319	4.531	0.11411	968	0.07033	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	383.25	14	chr16	17470643	.	C	T	383.25	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.909;DP=138;ExcessHet=0;FS=7.231;InbreedingCoeff=-0.094;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.417;SOR=1.773	GT:AD:DP:GQ:PL	0/1:8,18:26:99:394,0,210	8	0	1	1
chr16	23445970	23445970	A	-	intronic	COG7	.	.	.	Congenital disorder of glycosylation, type IIe	.	.	.	.	.	.	.	.	.	.	334369	not_provided|Congenital_disorder_of_glycosylation|COG7_congenital_disorder_of_glycosylation	MedGen:C3661900|MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137|MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3899	0.3803	0.3566	0.3682	0.4249	0.3932	0.3811	0.3995	0.0002587	40	154602	rs71379679	0.3540	0.3620	0.3514	0.3567	0.3851	0.3531	0.3528	0.3797	0.3774	0.3470	0.3424	0.3544	0.3851	0.3561	0.3445	0.3513	0.3570	0.3803	0.2121	0.2083	0.2079	0.2167	0.3049	0.2100	0.2092	0.2916	0.2862	0.2187	0.1708	0.1807	0.1672	0.3049	0.2926	0.1352	0.1984	0.2037	0.2610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1634.92	36	chr16	23445969	.	TA	T	1634.92	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.342;DP=418;ExcessHet=22.563;FS=3.646;InbreedingCoeff=-0.9779;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=0.556;SOR=0.498	GT:AD:DP:GQ:PL	0/1:15,8:23:99:127,0,280	0	0	10	0
chr16	30525595	30525595	T	C	exonic	ZNF768	.	nonsynonymous SNV	ZNF768:NM_024671:exon2:c.A545G:p.E182G	.	426	1048	47	1	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0026	0.00439297	0.0039	0.0038	0.0010	0.0001	0.0002	0.0025	0.0077	0.0150	0.0035316	546	154602	rs61735343	0.0025	0.0025	0.0021	0.0029	0.0150	0.0024	0.0024	0.0144	0.0141	0.0030	0.0010	0.0012	5.038e-05	0.0008	0.0076	0.0017	0.0030	0.0150	0.0029	0.0029	0.0028	0.0030	0.0155	0.0027	0.0026	0.0127	0.0117	0.0037	0	0.0017	0.0012	0	0.0007	0.0102	0.0025	0.0033	0.0155	0.001	0.78490	D	0.199	0.27679	T	0.131	0.27154	B	0.039	0.23607	B	0.000284	0.46274	D	0.000000	0.536829	0.31445	N	0.695	0.17993	N	3.18	0.07711	T	-0.89	0.24026	N	0.186	0.20262	-1.0139	0.25688	T	0.012	0.04558	T	10	0.0043001175	0.00087	T	.	.	.	0.075	0.21907	.	.	0.082315109003	0.07666	0.37202124606213827	0.37116	0.807358794691	0.66551	0.405187904835	0.25790	T	0.007683	0.07071	T	-0.499077	0.00578	T	-0.476692	0.24798	T	0.0276702102265299	0.01641	T	0.630337	0.24523	T	0.20003097	0.41964	0.1916817	0.42640	0.20003097	0.41964	0.1916817	0.42639	-4.114	0.25496	T	.	.	0.089	0.31733	B	.;.	.;.	1.973226	0.25064	16.63	0.99829335475869052	0.91112	0.69092	0.34052	D	AEFDBCI	0.181558	0.30888	N	-0.479766409328176	0.22745	1.216644	-0.309602595949851	0.27787	1.544414	0.999990811413327	0.74766	0.695654	0.57023	0	0.606735	0.50208	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.06	3.94	0.44807	0.000000	0.12910	1.452000	0.26614	0.665000	0.62972	0.005000	0.17040	1.000000	0.68203	0.947000	0.49155	0.0:0.0:0.1678:0.8322	10.160	0.42020	243	0.90483	.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.041667	0.1	706.14	51	chr16	30525595	.	T	C	706.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.484;DP=443;ExcessHet=0.2348;FS=0.811;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=1.04;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,16:40:99:0|1:30525595_T_C:365,0,960:30525595	8	0	2	0
chr16	56511263	56511263	T	C	exonic	BBS2	.	nonsynonymous SNV	BBS2:NM_001377456:exon3:c.A367G:p.I123V,BBS2:NM_031885:exon3:c.A367G:p.I123V	Bardet-Biedl syndrome 2, Autosomal recessive;Retinitis pigmentosa 74, Autosomal recessive	7	1085	379	51	0	481	0.181441	.	.	YES	255825	Bardet-Biedl_syndrome|not_specified|Retinitis_pigmentosa_74|Bardet-Biedl_syndrome_1|not_provided|Bardet-Biedl_syndrome_2|Retinal_dystrophy	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374|MONDO:MONDO:0014692,MedGen:C4225281,OMIM:616562,Orphanet:791|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MedGen:C3661900|MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981,Orphanet:110|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.169	.	0.1954	0.263578	0.2092	0.2292	0.3062	0.4101	0.1777	0.1703	0.2080	0.1939	0.205702	31802	154602	rs11373	0.1869	0.1869	0.1878	0.1860	0.4109	0.1863	0.1861	0.4056	0.4034	0.2297	0.2862	0.2119	0.4109	0.1735	0.1505	0.1732	0.1982	0.1882	0.2072	0.2074	0.2067	0.2076	0.4000	0.2052	0.2045	0.3857	0.3798	0.2319	0.1020	0.2418	0.2044	0.4000	0.1837	0.1361	0.1761	0.2111	0.1922	0.562	0.06341	T	0.544	0.11829	T	.	.	.	.	.	.	0.006774	0.31811	N	0.376395	0.726341	0.29873	P	.	.	.	-1.58	0.81987	D	-0.24	0.11008	N	0.056	0.06454	-1.0141	0.25625	T	0.000	0.00011	T	9	0.0039009154	0.00074	T	.	.	.	0.169	0.43123	.	.	.	.	0.40657062324920235	0.40573	0.20816477634	0.23283	0.361940145493	0.19669	T	0.222663	0.58657	T	-0.576094	0.00204	T	-0.456476	0.26983	T	0.00215051843252122	0.00022	T	0.759724	0.38410	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00647	B	.;.	.;.	0.874631	0.12478	9.008	0.60179440470861367	0.06401	0.81298	0.40731	D	AEFBI	0.120463	0.23466	N	-0.808476354663507	0.13093	0.6426372	-0.64647875390651	0.18306	0.9772973	0.744928693620984	0.23270	0.732398	0.92422	0	0.633656	0.55848	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.9	0.542	0.16365	0.398000	0.20624	-0.822000	0.07291	0.654000	0.53741	0.997000	0.40164	0.001000	0.17328	0.854000	0.40426	0.0:0.3239:0.1315:0.5446	5.865	0.18019	453	0.79178	Ciliary BBSome complex subunit 2, N-terminal;.	OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|MT1E|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|MT4|OGFOD1|AMFR|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|OGFOD1	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Amygdala|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood	BBS2|NUDT21|BBS2|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2	Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Colon_Transverse|Heart_Left_Ventricle|Lung|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs11373	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.187311	0.237374	0.202446	0.140351	0.250000	0.172414	0.149390	0.200758	0.25	7045.15	35	chr16	56511263	.	T	C	7045.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.697;DP=736;ExcessHet=2.8389;FS=0.528;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.4;SOR=0.659	GT:AD:DP:GQ:PL	0/1:58,57:115:99:1427,0,1385	5	0	5	0
chr16	70860121	70860121	C	T	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon71:c.G12076A:p.A4026T	Ciliary dyskinesia, primary, 5, Autosomal recessive	1	1068	453	0	0	453	0.174971	.	.	.	2839229	not_specified|Primary_ciliary_dyskinesia_5	MedGen:CN169374|MONDO:MONDO:0012088,MedGen:C1837615,OMIM:608647,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.037	0.0225746868454	.	.	.	.	.	.	.	.	.	.	0.0634317	1651	26028	rs11075798	0.0394	0.1019	0.0403	0.0385	0.0885	0.0391	0.0390	0.0854	0.0841	0.0885	0.0553	0.0317	0.0242	0.0367	0.0556	0.0402	0.0356	0.0177	0.0073	0.0345	0.0069	0.0078	0.0166	0.0070	0.0068	0.0154	0.0150	0.0166	0.0027	0.0062	0.0050	0.0056	0.0049	0	0.0037	0.0078	0.0023	0.897	0.02442	T	.	.	.	.	.	.	.	.	.	0.005716	0.32572	U	0.000000	0.804833	0.29071	N	1.76	0.45711	L	5.45	0.00969	T	-1.07	0.27876	N	0.132	0.12770	-0.6743	0.61634	T	0.003	0.01059	T	10	0.1010932	0.18449	T	0.022575	0.45482	T	0.037	0.09474	0.117	0.02508	0.0401082797425	0.02173	0.19250575897775737	0.19168	.	.	0.353295892477	0.18406	T	0.054064	0.29619	T	-0.236823	0.15757	T	-0.577957	0.14727	T	0.767720818519592	0.44303	D	.	.	.	0.0855957	0.19863	0.091075234	0.21393	0.0855957	0.19862	0.091075234	0.21393	-4.298	0.28149	T	.	.	0.096	0.15251	B	.	.	2.662526	0.34688	19.70	0.89959342871089099	0.19254	0.59907	0.31045	D	AEFBI	0.107291	0.21381	N	-0.24189496805192	0.31428	1.762157	-0.118700817344249	0.34636	1.99462	0.999895138418875	0.45129	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.51	2.34	0.28071	1.133000	0.31043	0.913000	0.22643	0.599000	0.40250	0.843000	0.30332	0.824000	0.27153	0.971000	0.54645	0.1289:0.727:0.0:0.1441	8.319	0.31276	550	0.72197	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	319.46	137	chr16	70860121	.	C	T	319.46	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-1.571;DP=749;ExcessHet=1.5895;FS=3.97;InbreedingCoeff=-0.23;MLEAC=3;MLEAF=0.15;MQ=48.57;MQRankSum=-4.713;QD=0.72;ReadPosRankSum=2.62;SOR=1.15	GT:AD:DP:GQ:PL	0/1:91,15:106:87:87,0,2445	6	0	4	0
chr16	86513394	86513394	-	T	UTR3	FOXF1	NM_001451:c.*309_*310insT	.	.	Alveolar capillary dysplasia with misalignment of pulmonary veins, Autosomal dominant	1165	284	20	53	0	126	0.181556	.	.	.	336349	Alveolar_capillary_dysplasia_with_pulmonary_venous_misalignment|not_provided	MONDO:MONDO:0009934,MedGen:C2960310,OMIM:265380,Orphanet:210122|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18799	4893	26028	rs11392376	0.3517	0.2949	0.3418	0.3609	0.7850	0.3497	0.3489	0.7685	0.7618	0.7850	0.3611	0.3453	0.1825	0.3261	0.4485	0.3177	0.3568	0.4954	0.4602	0.4615	0.4635	0.4567	0.7838	0.4573	0.4561	0.7766	0.7737	0.7838	0.2923	0.3829	0.3420	0.1934	0.3376	0.5272	0.3267	0.4238	0.4940	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	241.56	6	chr16	86513394	.	C	CT	241.56	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0;DP=22;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=30.19;ReadPosRankSum=1.38;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:75:0|1:86513394_C_CT:78,0,75:86513394	4	2	1	3
chr16	88432422	88432422	A	G	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.A4952G:p.Q1651R	Brittle cornea syndrome 1, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	192280	Cardiovascular_phenotype|not_provided|Brittle_cornea_syndrome_1|Ehlers-Danlos_syndrome	MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.004	0.159296427236	.	.	0.0004	0	0	0	0	0.0007	0.0063	0.0003	5.82e-05	9	154602	rs773925755	0.0004	0.0004	0.0004	0.0004	0.0077	0.0003	0.0003	0.0059	0.0053	0.0002	0.0007	0.0031	0	0	0.0077	0.0003	0.0011	0.0002	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0008	0.0007	0.0002	0	0.0012	0.0012	0	0	0.0068	0.0003	0.0005	0.0006	0.486	0.08091	T	0.211	0.26631	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.35	0.05989	T	-0.28	0.11547	N	0.029	0.02272	-0.9424	0.42234	T	0.007	0.02558	T	9	0.018613935	0.00407	T	0.159296	0.83953	D	0.004	0.00165	.	.	0.15556083564	0.15200	0.23828793486895608	0.23742	.	.	0.261016577482	0.05013	T	0.01143	0.10197	T	-0.664458	0.00059	T	-0.825782	0.01339	T	0.00135794444940984	0.00013	T	0.348565	0.07715	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.08609	B	.;.	.;.	-1.103645	0.00636	0.017	0.43578238770904026	0.03290	0.03014	0.07887	N	AEFDBI	0.087573	0.17757	N	-1.52929385133207	0.01660	0.07259991	-1.65009968223497	0.01375	0.0621263	0.999741137325267	0.42466	0.646311	0.45356	0	0.588066	0.40923	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.19	-8.38	0.00851	-0.724000	0.05050	-2.177000	0.04100	-0.351000	0.05566	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3759:0.2506:0.0942:0.2793	1.084	0.01545	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014607	0.026667	0.032110	0.009091	0.000000	0.000000	0.000000	0.000000	0.05	2333.43	85	chr16	88432422	.	A	G	2333.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.214;DP=798;ExcessHet=0;FS=2.514;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.679;SOR=0.597	GT:AD:DP:GQ:PL	0/1:89,100:189:99:2345,0,2399	9	0	1	0
chr16	88435936	88435936	G	A	exonic	ZNF469	.	synonymous SNV	ZNF469:NM_001367624:exon3:c.G8466A:p.P2822P	Brittle cornea syndrome 1, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	1510677	Cardiovascular_phenotype|not_provided	MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	5.74e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs749980410	1.216e-05	1.163e-05	1.553e-05	8.704e-06	8.402e-05	7.41e-06	6.06e-06	2.227e-05	1.217e-05	0	8.402e-05	3.971e-05	5.596e-05	0	0	5.561e-06	3.449e-05	3.786e-05	3.283e-05	3.281e-05	0	6.714e-05	0.0006	1.26e-05	7.97e-06	0.0002	9.003e-05	4.811e-05	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.05	2452.43	153	chr16	88435936	.	G	A	2452.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.99;DP=1033;ExcessHet=0;FS=4.331;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.564;SOR=1.013	GT:AD:DP:GQ:PL	0/1:88,91:179:99:2464,0,2002	9	0	1	0
chr16	88437796	88437796	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G10326C:p.R3442S	Brittle cornea syndrome 1, Autosomal recessive	0	1466	53	3	0	59	0.0197258	.	.	YES	192279	not_provided|not_specified|Brittle_cornea_syndrome_1|Cardiovascular_phenotype|Ehlers-Danlos_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN230736|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.008	.	0.0092	0.00399361	0.0068	0.0132	0	0	0	0.0129	0.0152	0.0033	0.0023609	365	154602	rs56236932	0.0117	0.0112	0.0120	0.0115	0.0311	0.0116	0.0115	0.0274	0.0259	0.0024	0.0061	0.0079	0.0009	0.0030	0.0311	0.0137	0.0098	0.0024	0.0092	0.0092	0.0096	0.0088	0.0136	0.0088	0.0087	0.0129	0.0126	0.0034	0.0515	0.0123	0.0066	0.0004	0.0028	0.0170	0.0136	0.0099	0.0039	0.99	0.01967	T	0.181	0.29346	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.26	0.06681	T	-1.26	0.31778	N	0.141	0.17416	-0.9525	0.40538	T	0.006	0.01944	T	9	0.0023328662	0.00034	T	.	.	.	0.008	0.00669	.	.	0.0482279557977	0.04254	0.3911152535606869	0.39026	.	.	0.424662411213	0.28477	T	0.007116	0.06537	T	-0.660806	0.00062	T	-0.709655	0.05313	T	0.00269498223344518	0.00028	T	0.617538	0.23656	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.46574	B	.;.	.;.	0.698403	0.10673	7.368	0.67102367011221209	0.08255	0.09907	0.15554	N	AEFDGBCI	0.177062	0.30429	N	-1.12483985575745	0.06204	0.2849534	-1.17493056823169	0.06331	0.3044115	0.999983605403438	0.51787	0.495158	0.18159	0	0.615948	0.52940	0	0.535252	0.11790	0	0.638833	0.57524	0	.	.	5.14	-1.31	0.08749	-1.073000	0.03541	-0.015000	0.13005	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2306:0.1127:0.4274:0.2292	1.785	0.02857	.	.	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	1	0	0	0	0.015581	0.007042	0.016949	0.038095	0.100000	0.000000	0.013514	0.014706	0.05	3823.43	47	chr16	88437796	.	G	C	3823.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=701;ExcessHet=0;FS=4.081;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.981;SOR=0.541	GT:AD:DP:GQ:PL	0/1:174,173:347:99:3835,0,3794	9	0	1	0
chr16	89779944	89779944	G	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon18:c.C1640T:p.A547V,FANCA:NM_001286167:exon18:c.C1640T:p.A547V	Fanconi anemia, complementation group A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1335130	Fanconi_anemia|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.589	0.312192026379	.	.	0.0001	0	0	0	0	0	0	0.0010	0.0001164	18	154602	rs550821697	6.909e-05	6.909e-05	2.995e-05	0.0001	0.0012	5.78e-05	5.391e-05	0.0010	0.0009	0	0	0	0	0	0	0	1.656e-05	0.0012	5.255e-05	5.253e-05	1.284e-05	9.412e-05	0.0017	2.557e-05	1.83e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000018	0.62929	D	0.000000	0.999881	0.50402	D	2.865	0.83145	M	-2.28	0.87591	D	-3.02	0.62630	D	0.769	0.79696	0.739	0.93653	D	0.793	0.92990	D	10	0.5747272	0.65515	D	0.312192	0.91219	D	0.589	0.83582	0.171	0.07655	0.961536280717	0.96112	0.5549498151830777	0.55421	.	.	0.472491562366	0.35023	T	0.588592	0.86637	D	0.103113	0.64627	D	0.318991	0.89048	D	0.582085132598877	0.35699	D	0.908809	0.73262	D	0.3115217	0.53917	0.32437226	0.58362	0.3115217	0.53918	0.32437226	0.58361	-10.966	0.80365	D	0.5848694286794677	0.65167	0.310	0.53755	B	.;.	.;.	4.316021	0.66020	24.9	0.99869804375651328	0.94726	0.98189	0.80377	D	AEFBI	0.722484	0.67240	D	0.6016340963063	0.73278	5.940077	0.478811205389212	0.66588	4.971669	0.999999714183396	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	7.488000	0.80254	11.600000	0.93469	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.355000	0.25773	0.0:0.0:1.0:0.0	17.731	0.88285	620	0.66037	.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1029.43	33	chr16	89779944	.	G	A	1029.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.28;DP=388;ExcessHet=0;FS=2.903;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=2.21;SOR=0.972	GT:AD:DP:GQ:PL	0/1:41,42:83:99:1041,0,903	9	0	1	0
chr16	89816740	89816740	-	GGCCTTGCGTCGT	upstream	FANCA	dist=93	.	.	Fanconi anemia, complementation group A, Autosomal recessive	50	1018	318	136	0	590	0.224676	.	.	.	208324	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.522963	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs11275235	0.2739	0.2644	0.2665	0.2809	0.9576	0.2728	0.2723	0.9471	0.9428	0.4104	0.4624	0.1766	0.9576	0.3603	0.2057	0.2121	0.3030	0.4074	0.3957	0.3973	0.3848	0.4071	0.9688	0.3931	0.3920	0.9463	0.9370	0.4731	0.2539	0.4650	0.1948	0.9688	0.3791	0.1747	0.3009	0.3658	0.4746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	914.59	7	chr16	89816740	.	A	AGGCCTTGCGTCGT	914.59	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.389;DP=109;ExcessHet=0.2065;FS=0;InbreedingCoeff=0.1754;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=24.07;ReadPosRankSum=-0.524;SOR=0.922	GT:AD:DP:GQ:PL	0/1:5,6:11:99:236,0,193	6	1	3	0
chr17	3648932	3648932	G	C	splicing	CTNS	NM_001031681:exon5:c.225+1G>C;NM_001374492:exon5:c.225+1G>C;NM_004937:exon5:c.225+1G>C;NM_001374494:exon4:UTR5	.	.	Cystinosis, atypical nephropathic, Autosomal recessive;Cystinosis, late-onset juvenile or adolescent nephropathic, Autosomal recessive;Cystinosis, nephropathic, Autosomal recessive;Cystinosis, ocular nonnephropathic, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	3398648	Nephropathic_cystinosis	MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.436e-05	0.0001	3.331e-05	1.536e-05	0.0001	1.769e-05	1.565e-05	4.129e-05	2.404e-05	0.0001	0	0	0	0	0	2.846e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.564985	0.92168	32	0.99013568629743054	0.50420	0.98683	0.85537	D	AEFBI	.	.	.	1.03179274073246	0.96641	14.95034	0.838146727094735	0.92305	11.35053	0.999987276666517	0.51787	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.117559	0.03655	0	0.977595	0.81320	5.06	5.06	0.67838	6.350000	0.72965	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.0:0.0:1.0:0.0	18.302	0.90109	789	0.46346	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.45	782.83	142	chr17	3648932	.	G	C	782.83	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.825;DP=1043;ExcessHet=15.1594;FS=349.684;InbreedingCoeff=-0.844;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=1.02;SOR=12.061	GT:AD:DP:GQ:PL	0/1:72,34:122:40:40,0,1186	1	0	9	0
chr17	6464763	6464763	C	T	exonic	PITPNM3	.	synonymous SNV	PITPNM3:NM_001165966:exon14:c.G1791A:p.T597T,PITPNM3:NM_031220:exon15:c.G1899A:p.T633T	Cone-rod dystrophy 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	339802	not_provided|Cone-rod_dystrophy_5	MedGen:C3661900|MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977,Orphanet:1872	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	2.479e-05	9.669e-05	0	0	0	1.504e-05	0	6.058e-05	1.94e-05	3	154602	rs370756871	1.779e-05	1.779e-05	2.314e-05	1.238e-05	5.797e-05	1.237e-05	1.051e-05	2.194e-05	1.43e-05	0	0	0	0	0	0	1.799e-05	1.656e-05	5.797e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.05	1521.43	33	chr17	6464763	.	C	T	1521.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.09;DP=456;ExcessHet=0;FS=2.982;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.024;SOR=0.929	GT:AD:DP:GQ:PL	0/1:75,68:143:99:1533,0,1690	9	0	1	0
chr17	17237171	17237171	C	G	upstream	FLCN	dist=3	.	.	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	1308	79	25	110	0	245	0.60794	.	.	.	337331	Nonpapillary_renal_cell_carcinoma|Birt-Hogg-Dube_syndrome_1|Colorectal_cancer|Familial_spontaneous_pneumothorax|FLCN-related_disorder|Birt-Hogg-Dube_syndrome|not_provided	MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MONDO:MONDO:0800445,MedGen:CN375946,OMIM:135150,Orphanet:122|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|.|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.743211	.	.	.	.	.	.	.	.	0.732019	19053	26028	rs1736209	0.8036	0.0332	0.8333	0.7812	1.0000	0.6172	0.5514	0.5955	0.5219	.	.	.	1.0000	0.7500	1.0000	0.8095	0.5000	1.0000	0.7274	0.7275	0.7224	0.7327	0.8462	0.7238	0.7223	0.8252	0.8166	0.6277	0.8495	0.7371	0.7353	0.8462	0.8738	0.6463	0.7531	0.7110	0.7266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	37.86	.	chr17	17237171	.	C	G	37.86	.	AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=7;ExcessHet=0;FS=0;MLEAC=3;MLEAF=1;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=-1.383;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:23:38,0,23	0	0	1	9
chr17	18148547	18148547	C	T	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon31:c.C6743T:p.A2248V	Deafness, autosomal recessive 3, Autosomal recessive	0	1495	25	2	0	29	0.00960583	.	.	.	54920	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_specified|not_provided	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.661	.	0.0003	0.00439297	0.0093	0.0005	0.0023	0	0	0.0016	0.0104	0.0216	0.0017982	278	154602	rs199831544	0.0014	0.0014	0.0008	0.0020	0.0182	0.0013	0.0013	0.0174	0.0171	6.324e-05	5.569e-05	0.0073	0	0	0.0028	0.0002	0.0018	0.0182	0.0008	0.0008	0.0006	0.0010	0.0145	0.0007	0.0006	0.0118	0.0108	9.627e-05	0	0.0005	0.0066	0	0	0	0.0002	0.0009	0.0145	0.043	0.41364	D	0.002	0.79402	D	0.91	0.50240	P	0.335	0.42239	B	.	.	.	.	0.999897	0.50595	D	3.17	0.88688	M	-2.51	0.89293	D	-3.82	0.71997	D	0.377	0.58883	0.520	0.90822	D	0.670	0.88546	D	9	0.0093669295	0.00212	T	.	.	.	0.661	0.87332	.	.	0.779154654256	0.77711	0.7726035762880744	0.77210	.	.	0.560795664787	0.47380	T	0.128323	0.88232	T	-0.208815	0.19545	T	-0.0577883	0.66487	T	0.0954846278579105	0.11853	T	0.884712	0.60854	D	0.38575172	0.59729	0.37404418	0.62579	0.36982277	0.58572	0.40623018	0.65002	-9.642	0.71740	D	0.6357685959209678	0.70577	0.352	0.56696	A	.;.;.	.;.;.	4.075321	0.60581	24.2	0.99693189963661699	0.80112	0.92504	0.55867	D	AEFBI	0.381485	0.46373	N	0.403898352134571	0.61637	4.367414	0.395471302872952	0.61285	4.326514	0.996981160912718	0.35173	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.3	4.3	0.50540	4.537000	0.60354	7.595000	0.61372	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	16.520	0.84159	190	0.92594	.;.;.	.	.	.	.	.	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	0.001618	0.000000	0.000000	0.000000	0.000000	0.009615	0.000000	0.004032	0.1	1425.14	34	chr17	18148547	.	C	T	1425.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.266;DP=423;ExcessHet=0.2348;FS=2.071;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.383;SOR=0.541	GT:AD:DP:GQ:PL	0/1:35,25:60:99:616,0,919	8	0	2	0
chr17	19909228	19909228	T	C	exonic	AKAP10	.	nonsynonymous SNV	AKAP10:NM_001330152:exon13:c.A1762G:p.I588V,AKAP10:NM_007202:exon14:c.A1936G:p.I646V	.	429	489	464	140	0	744	0.432056	.	.	.	20443	Reclassified_-_variant_of_unknown_significance|AKAP10-related_disorder	.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.120	.	0.4504	0.39397	0.3737	0.5879	0.4229	0.1824	0.3464	0.3790	0.3377	0.2956	0.373016	57669	154602	rs203462	0.3854	0.3855	0.3891	0.3817	0.5952	0.3846	0.3842	0.5883	0.5855	0.5952	0.4193	0.3679	0.2016	0.3461	0.4069	0.3927	0.3889	0.3035	0.4277	0.4279	0.4312	0.4241	0.5838	0.4250	0.4238	0.5777	0.5751	0.5838	0.3626	0.4303	0.3698	0.1901	0.3480	0.4150	0.3766	0.4152	0.2874	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	N	0.000000	0.999797	0.20333	P	-2.015	0.00187	N	2.01	0.21291	T	0.31	0.04022	N	0.118	0.10769	-0.9687	0.37468	T	0.000	0.00011	T	9	5.4074975e-05	0.00009	T	.	.	.	0.120	0.33359	.	.	.	.	0.1933210593021231	0.19250	0.178928352935	0.20133	0.692670106888	0.66089	T	0.062406	0.31909	T	-0.636176	0.00088	T	-0.542779	0.18025	T	0.00597241672880667	0.00066	T	0.305869	0.05863	T	0.049374104	0.08756	0.061363425	0.11835	0.049374104	0.08756	0.061363425	0.11835	-1.044	0.01049	T	.	.	0.048	0.00179	B	.;.	.;.	1.819896	0.23127	15.90	0.48678567446506221	0.04082	0.07005	0.13031	N	AEFGBI	0.025493	0.01754	N	-0.652311836236643	0.17393	0.8946286	-0.344221069595134	0.26688	1.475766	0.998595863275224	0.37268	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.88	5.88	0.94564	3.391000	0.52271	5.998000	0.52441	-0.192000	0.09343	0.976000	0.34826	1.000000	0.68203	0.953000	0.50222	0.0:0.9244:0.0:0.0756	12.685	0.56308	587	0.69154	A-kinase anchor protein 10, PKA-binding (AKB) domain;A-kinase anchor protein 10, PKA-binding (AKB) domain	RP11-78O7.2|AKAP10|SPECC1|CCDC144CP|USP32P3|AKAP10|AKAP10|RP11-209D14.2|RP11-78O7.2|AKAP10|RP11-209D14.2|CCDC144CP|RP11-78O7.2|RP11-78O7.2|RP11-78O7.2|CCDC144CP|RP11-78O7.2|USP32P3|RP11-78O7.2|RP11-78O7.2|CCDC144CP|USP32P3|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|LGALS9B|RP11-78O7.2|RP11-78O7.2|AKAP10|LGALS9B|KRT16P3|RP11-78O7.2|AKAP10|AKAP10|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|LGALS9B|AKAP10|RP11-78O7.2|AKAP10|SPECC1|CCDC144CP|USP32P3|AKAP10|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|CCDC144CP|AKAP10|LGALS9B|RP11-78O7.2|AKAP10|RP11-78O7.2|LGALS9B|RP11-209D14.2|CCDC144CP|USP32P3|SRP68P3|NOS2P3|AC008088.4|RP11-78O7.2|AKAP10|CCDC144CP|USP32P3|RP11-209D14.4|AKAP10|LGALS9B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	AKAP10|CCDC144CP|CCDC144CP|CCDC144CP|CCDC144CP|KRT16P3|CCDC144CP|KRT17P7	Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Esophagus_Mucosa|Testis|Testis	rs203462	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	0.427923	0.474747	0.483696	0.461988	0.350000	0.431034	0.300613	0.378788	0.55	15351.0	154	chr17	19909228	.	T	C	15351.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.693;DP=1085;ExcessHet=5.1594;FS=2.512;InbreedingCoeff=-0.4141;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.63;SOR=0.794	GT:AD:DP:GQ:PL	0/1:55,49:104:99:1057,0,1287	1	2	7	0
chr17	21300880	21300880	C	T	exonic	MAP2K3	.	nonsynonymous SNV	MAP2K3:NM_002756:exon5:c.C199T:p.R67W,MAP2K3:NM_145109:exon5:c.C286T:p.R96W,MAP2K3:NM_001316332:exon6:c.C199T:p.R67W	.	430	38	1047	7	0	1061	0.933157	.	.	.	1770503	not_specified|MAP2K3-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.375	.	.	.	0.4998	0.4999	0.4997	0.4986	0.5	0.4999	0.5	0.4999	0.0238677	3690	154602	rs56216806	0.4983	0.4983	0.4982	0.4985	0.4998	0.4974	0.4970	0.4969	0.4964	0.4981	0.4998	0.4992	0.4996	0.4998	0.4996	0.4980	0.4987	0.4994	0.5000	0.5000	0.5000	0.5000	0.5000	0.4970	0.4958	0.4955	0.4937	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.0	0.91255	D	0.043	0.56640	D	1.0	0.90584	D	0.994	0.82059	D	0.000006	0.62929	D	0.000000	0.999999	0.58761	D	2.88	0.83451	M	-0.23	0.66652	T	-4.91	0.82141	D	0.699	0.70351	-0.9444	0.41911	T	0.000	0.00011	T	10	0.0043037534	0.00087	T	.	.	.	0.375	0.69358	.	.	.	.	0.7188625825101859	0.71829	0.606269731864	0.55478	0.820443630219	0.85095	D	0.403427	0.76018	T	0.346235	0.86252	D	0.259566	0.86071	D	0.0378888073466841	0.03313	T	0.914509	0.70203	D	0.8805352	0.89711	0.8318533	0.90306	0.8805352	0.89712	0.8318533	0.90306	-15.158	0.96694	D	.	.	0.905	0.83091	P	.;.;.;.;.	.;.;.;.;.	5.775915	0.93501	33	0.98723007320009115	0.45230	0.81548	0.40929	D	AEFGBCI	0.787610	0.71734	D	0.664275873630775	0.77296	6.647485	0.610880277044446	0.75730	6.36224	0.999999998268304	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	4.716000	0.61607	5.995000	0.52393	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.1566:0.8434:0.0:0.0	13.451	0.60626	824	0.40336	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.497986	0.494949	0.501359	0.497076	0.500000	0.500000	0.493902	0.500000	0.5	43672.0	220	chr17	21300880	.	C	T	43672.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.13;DP=2653;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.88;ReadPosRankSum=-0.715;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,112:239:99:0|1:21300875_G_T:4299,0,4839:21300875	0	0	10	0
chr17	41818090	41818090	G	A	exonic	FKBP10	.	synonymous SNV	FKBP10:NM_021939:exon3:c.G393A:p.A131A	Bruck syndrome 1, Autosomal recessive;Osteogenesis imperfecta, type XI, Autosomal recessive	1	1516	4	1	0	6	0.00197498	0.0003	0.002	.	877483	Osteogenesis_imperfecta_type_11|not_provided|FKBP10-related_disorder|Osteogenesis_imperfecta	MONDO:MONDO:0012592,MedGen:C3151218,OMIM:610968,Orphanet:666|MedGen:C3661900|.|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0014	0.0002	0.0005	0	0	0.0004	0	0.0054	0.0005239	81	154602	rs573350587	0.0003	0.0003	0.0002	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	3.007e-05	2.29e-05	0	0	5.714e-05	0	4.781e-05	0.0004	0.0041	9.191e-05	9.842e-05	8.992e-05	9.398e-05	0.0025	5.523e-05	4.361e-05	0.0014	0.0011	0	0	0	0	0	0	0	2.94e-05	0	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001009	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	677.43	34	chr17	41818090	.	G	A	677.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.093;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.45;SOR=0.555	GT:AD:DP:GQ:PL	0/1:27,27:54:99:689,0,649	9	0	1	0
chr17	46067549	46067549	G	A	exonic	KANSL1	.	nonsynonymous SNV	KANSL1:NM_001193466:exon5:c.C1652T:p.T551I,KANSL1:NM_015443:exon5:c.C1652T:p.T551I,KANSL1:NM_001193465:exon6:c.C1652T:p.T551I,KANSL1:NM_001379198:exon6:c.C1652T:p.T551I	Koolen-De Vries syndrome, Autosomal dominant	3	1518	1	0	0	1	0.000329272	0.0082	0.082	YES	376119	not_provided|not_specified|Koolen-de_Vries_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012496,MedGen:C1864871,OMIM:610443,Orphanet:96169	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.0115738278123	.	.	0.0003	0	0.0030	0	0	4.496e-05	0.0011	0	0.0002587	40	154602	rs778178483	7.954e-05	7.74e-05	9.176e-05	6.733e-05	0.0015	6.728e-05	6.289e-05	0.0012	0.0011	0	0.0015	0	0	0	0	3.423e-05	0.0001	0	3.944e-05	3.941e-05	5.141e-05	2.691e-05	0.0004	1.716e-05	1.13e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	0	0	0	0.074	0.34621	T	0.143	0.38160	T	.	.	.	.	.	.	0.015302	0.28282	N	0.414164	1	0.81001	D	.	.	.	0.89	0.45636	T	-1.67	0.39887	N	0.518	0.55106	-1.1044	0.03598	T	0.052	0.22114	T	9	0.013761759	0.00291	T	0.011574	0.29327	T	0.032	0.07718	0.274	0.22528	0.117191471859	0.11215	0.48463193866998194	0.48383	0.516667203	0.49549	0.46329960227	0.33763	T	.	.	.	-0.448382	0.01155	T	-0.45738	0.26884	T	0.0248115787521781	0.01248	T	0.878412	0.61048	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.51341	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.346942	0.46141	22.3	0.99333349918954461	0.59856	0.94770	0.62270	D	AEFBI	0.272466	0.38809	N	-0.152775370061714	0.35115	2.013016	-0.0532126920741563	0.37352	2.185828	0.447617493224262	0.20510	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.23	3.13	0.35090	2.157000	0.41946	4.028000	0.41312	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:0.1691:0.6677:0.1632	8.954	0.34965	405	0.82444	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	535.43	38	chr17	46067549	.	G	A	535.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=387;ExcessHet=0;FS=0.978;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=0.789;SOR=0.534	GT:AD:DP:GQ:PL	0/1:41,24:65:99:547,0,971	9	0	1	0
chr17	59064408	59064408	A	-	intronic	TRIM37	.	.	.	Mulibrey nanism, Autosomal recessive	3	160	18	1	44	64	0.0588235	.	.	.	329188	Mulibrey_nanism_syndrome|not_specified|not_provided	MONDO:MONDO:0009664,MedGen:C0524582,OMIM:253250,Orphanet:2576|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2284	.	0.3120	0.2552	0.3418	0.3266	0.2628	0.3084	0.3263	0.3404	0.0001921	5	26028	rs367700401	0.0985	0.1854	0.0961	0.1009	0.1579	0.0979	0.0977	0.1538	0.1521	0.0942	0.1579	0.1212	0.1240	0.1151	0.0828	0.0923	0.1014	0.1258	0.0021	0.0042	0.0020	0.0023	0.0026	0.0019	0.0018	0.0022	0.0021	0.0008	0	0.0013	0.0006	0.0006	0.0087	0.0035	0.0026	0.0021	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1564.22	147	chr17	59064407	.	TA	T	1564.22	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.113;DP=960;ExcessHet=4.5998;FS=0.67;InbreedingCoeff=-0.4288;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.52;ReadPosRankSum=0.126;SOR=0.586	GT:AD:DP:GQ:PL	0/1:89,12:101:30:30,0,2193	5	0	5	0
chr17	61683587	61683587	A	G	exonic	BRIP1	.	synonymous SNV	BRIP1:NM_032043:exon20:c.T3459C:p.D1153D	Breast cancer, early-onset, Autosomal dominant;Fanconi anemia, complementation group J	14	1489	19	0	0	19	0.00633967	.	.	.	140283	Fanconi_anemia_complementation_group_J|Familial_cancer_of_breast|Ovarian_cancer|not_provided|BRIP1-related_disorder|not_specified|Breast_and/or_ovarian_cancer|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0012187,MedGen:C1836860,OMIM:609054,Orphanet:84|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MedGen:C3661900|MedGen:CN239206|MedGen:CN169374|MedGen:CN221562|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0005	0.000199681	0.0008	0	0.0013	0	0	0.0011	0.0022	0.0005	0.0007503	116	154602	rs4987050	0.0007	0.0007	0.0006	0.0007	0.0158	0.0006	0.0006	0.0132	0.0122	0.0006	0.0011	0.0011	0	0	0.0158	0.0006	0.0012	0.0006	0.0007	0.0007	0.0007	0.0006	0.0012	0.0006	0.0005	0.0008	0.0007	0.0002	0	0.0012	0.0006	0	0	0.0238	0.0010	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.013595	0.010101	0.017663	0.023392	0.050000	0.025862	0.000000	0.000000	0.05	2789.43	39	chr17	61683587	.	A	G	2789.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.562;DP=505;ExcessHet=0;FS=7.805;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=0.495;SOR=0.718	GT:AD:DP:GQ:PL	0/1:72,102:174:99:2801,0,1854	9	0	1	0
chr17	80184196	80184196	G	A	exonic	CARD14	.	synonymous SNV	CARD14:NM_001257970:exon4:c.G633A:p.E211E,CARD14:NM_024110:exon4:c.G633A:p.E211E,CARD14:NM_001366385:exon7:c.G633A:p.E211E	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	0	505	725	292	0	1309	0.564467	.	.	.	390302	not_provided|Pityriasis_rubra_pilaris|Psoriasis_2|not_specified	MedGen:C3661900|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3867	0.347045	0.4547	0.4591	0.4132	0.3050	0.5434	0.4586	0.4259	0.4751	0.27294	42197	154602	rs4889990	0.3755	0.3729	0.3740	0.3771	0.4346	0.3747	0.3743	0.4308	0.4292	0.4143	0.2620	0.3677	0.2342	0.3867	0.4186	0.3783	0.3740	0.4346	0.3784	0.3786	0.3796	0.3771	0.4262	0.3758	0.3747	0.4112	0.4091	0.4164	0.3315	0.3063	0.3686	0.2088	0.3755	0.4150	0.3826	0.3685	0.4262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.432990	0.461957	0.414127	0.444118	0.550000	0.500000	0.412500	0.418605	0.55	28735.0	180	chr17	80184196	.	G	A	28735.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=0.462;DP=1576;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.0101;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=-0.366;SOR=0.673	GT:AD:DP:GQ:PL	0/1:94,78:172:99:2005,0,2445	2	3	5	0
chr17	80184264	80184264	G	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	6	48	368	1100	0	2568	0.963964	.	.	.	1182690	not_provided|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8544	0.794928	0.8441	0.8710	0.6889	0.7366	0.875	0.8428	0.8415	0.8743	0.0001153	3	26028	rs4889991	0.8195	0.8061	0.8183	0.8207	0.8980	0.8182	0.8177	0.8731	0.8630	0.8708	0.5961	0.8636	0.7159	0.8355	0.8980	0.8246	0.8170	0.8429	0.8196	0.8195	0.8222	0.8169	0.8624	0.8158	0.8142	0.8549	0.8519	0.8624	0.8772	0.6669	0.8646	0.6716	0.8401	0.9144	0.8312	0.8078	0.8411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	27525.3	101	chr17	80184264	.	G	A	27525.3	.	AC=16;AF=0.8;AN=20;BaseQRankSum=0.762;DP=1051;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.375;MLEAC=16;MLEAF=0.8;MQ=60;MQRankSum=0;QD=28.26;ReadPosRankSum=-0.011;SOR=0.682	GT:AD:DP:GQ:PL	1/1:0,122:122:99:3862,366,0	1	7	2	0
chr17	80202434	80202434	T	A	UTR3	CARD14	NM_001257970:c.*10T>A	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	3	581	641	245	52	1183	0.49324	.	.	.	390303	not_specified|Psoriasis_2|Pityriasis_rubra_pilaris|not_provided	MedGen:CN169374|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4160	0.35623	0.4195	0.2494	0.2489	0.4706	0.4337	0.4886	0.4391	0.3357	0.411004	63542	154602	rs8069255	0.4789	0.4785	0.4821	0.4756	0.5504	0.4779	0.4775	0.5443	0.5418	0.2463	0.2746	0.4213	0.5504	0.4314	0.4130	0.5079	0.4544	0.3360	0.4042	0.4042	0.4084	0.3999	0.5012	0.4015	0.4004	0.4967	0.4949	0.2537	0.7039	0.3372	0.4129	0.4998	0.4307	0.3946	0.5012	0.4019	0.3226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	9232.96	119	chr17	80202434	.	T	A	9232.96	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.089;DP=796;ExcessHet=2.8549;FS=0.551;InbreedingCoeff=-0.25;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-0.768;SOR=0.625	GT:AD:DP:GQ:PL	0/1:53,30:83:99:884,0,1536	3	1	6	0
chr17	80205094	80205094	C	T	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_024110:exon18:c.C2458T:p.R820W,CARD14:NM_001366385:exon21:c.C2458T:p.R820W	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	50	677	568	227	0	1022	0.430135	.	.	YES	390229	Autoinflammatory_syndrome|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.108	.	0.4093	0.353035	0.4244	0.2458	0.2536	0.4728	0.4509	0.4913	0.4363	0.3466	0.416469	64387	154602	rs11652075	0.4774	0.4773	0.4804	0.4744	0.5465	0.4765	0.4761	0.5404	0.5379	0.2319	0.2729	0.4216	0.5465	0.4308	0.4053	0.5063	0.4514	0.3424	0.3995	0.3997	0.4035	0.3954	0.4991	0.3969	0.3958	0.4946	0.4928	0.2409	0.7044	0.3346	0.4127	0.4952	0.4305	0.3844	0.4991	0.4020	0.3313	0.004	0.65419	D	0.035	0.52389	D	0.912	0.50421	P	0.17	0.35299	B	0.044886	0.23592	N	0.424901	0.99932	0.21372	P	1.04	0.26193	L	3.41	0.05574	T	-3.87	0.72594	D	0.111	0.10626	-0.9523	0.40573	T	0.000	0.00011	T	9	0.00018051267	0.00010	T	.	.	.	0.108	0.30607	.	.	.	.	0.6907763373857173	0.69017	0.3656648137	0.38159	0.328153610229	0.14655	T	0.159702	0.50324	T	-0.676618	0.00050	T	-0.600871	0.12738	T	0.0284327208824887	0.01751	T	0.822018	0.48145	T	0.073126465	0.16318	0.09188487	0.21627	0.08949082	0.20911	0.07744421	0.17251	-9.283	0.69500	D	0.35371682974795465	0.45071	0.107	0.20117	B	.;.;.	.;.;.	2.706086	0.35358	19.88	0.99284288146199018	0.58008	0.56796	0.30209	D	AEFDBCI	0.414520	0.48375	N	-0.377503514459143	0.26272	1.432592	-0.419791073847034	0.24417	1.336925	0.753767999298708	0.23401	0.554377	0.28877	0	0.550933	0.16991	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.09	1.85	0.24418	2.561000	0.45567	2.570000	0.33360	-0.249000	0.07183	0.963000	0.33788	0.978000	0.30204	0.008000	0.08271	0.3814:0.4907:0.0:0.128	4.371	0.10680	862	0.33134	.;.;.	CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood	RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|SGSH|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|SGSH	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Uterus|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	rs11652075	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	0.422805	0.408163	0.445504	0.473684	0.350000	0.456897	0.380368	0.367424	0.4	16742.0	178	chr17	80205094	.	C	T	16742.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.655;DP=1279;ExcessHet=2.8549;FS=0;InbreedingCoeff=-0.25;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=0.58;SOR=0.675	GT:AD:DP:GQ:PL	0/1:58,111:169:99:2856,0,1342	3	1	6	0
chr18	57580222	57580222	G	A	intronic	FECH	.	.	.	Protoporphyria, erythropoietic, autosomal recessive, Autosomal recessive	2	910	527	83	0	693	0.275766	.	.	.	15589	not_provided|Jaundice|Erythema|not_specified|Protoporphyria,_erythropoietic,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000952,MedGen:C0022346|Human_Phenotype_Ontology:HP:0010783,MedGen:C0041834|MedGen:CN169374|MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2588	0.334665	0.2467	0.4468	0.4373	0.3093	0.2329	0.1736	0.2174	0.2577	0.238063	36805	154602	rs2269219	0.1942	0.1944	0.1942	0.1942	0.4542	0.1936	0.1934	0.4482	0.4457	0.4542	0.3983	0.2246	0.3662	0.2313	0.2387	0.1638	0.2062	0.2567	0.2741	0.2744	0.2705	0.2778	0.4470	0.2719	0.2710	0.4416	0.4394	0.4470	0.0822	0.3025	0.2145	0.3240	0.2456	0.3027	0.1704	0.2623	0.2512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2081.57	37	chr18	57580222	.	G	A	2081.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-1.11;DP=326;ExcessHet=1.5895;FS=0.733;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=0.123;SOR=0.6	GT:AD:DP:GQ:PL	0/1:10,9:19:99:210,0,306	6	0	4	0
chr19	7525145	7525145	G	A	exonic	MCOLN1	.	synonymous SNV	MCOLN1:NM_020533:exon2:c.G216A:p.K72K	Mucolipidosis IV, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	757329	Inborn_genetic_diseases|Mucolipidosis_type_IV|MCOLN1-related_disorder	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009653,MedGen:C0238286,OMIM:252650,Orphanet:578|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	0.0003	0	0.0004	0.0001	0	0.0004	0	0.0005	0.0002975	46	154602	rs369176493	0.0003	0.0003	0.0003	0.0003	0.0023	0.0003	0.0003	0.0013	0.0011	5.974e-05	0.0004	0	0	0	0.0023	0.0003	0.0003	0.0005	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.71e-05	0.0001	0.0001	7.214e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.002014	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	1559.43	37	chr19	7525145	.	G	A	1559.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.238;DP=433;ExcessHet=0;FS=2.305;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.446;SOR=0.913	GT:AD:DP:GQ:PL	0/1:59,64:123:99:1571,0,1469	9	0	1	0
chr19	19196988	19196988	C	T	exonic	RFXANK	.	synonymous SNV	RFXANK:NM_001278728:exon3:c.C210T:p.T70T,RFXANK:NM_001370233:exon3:c.C213T:p.T71T,RFXANK:NM_001370234:exon3:c.C213T:p.T71T,RFXANK:NM_001370236:exon3:c.C210T:p.T70T,RFXANK:NM_001370237:exon3:c.C210T:p.T70T,RFXANK:NM_001370238:exon3:c.C213T:p.T71T,RFXANK:NM_001278727:exon4:c.C213T:p.T71T,RFXANK:NM_001370235:exon4:c.C210T:p.T70T,RFXANK:NM_003721:exon4:c.C213T:p.T71T,RFXANK:NM_134440:exon4:c.C210T:p.T70T	MHC class II deficiency, complementation group B, Autosomal recessive	0	1301	207	14	0	235	0.082834	.	.	.	332953	MHC_class_II_deficiency|not_specified	MONDO:MONDO:0008855,MedGen:C5447452,OMIM:PS209920,Orphanet:572|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0456	0.028754	0.0523	0.0107	0.0270	0.0002	0.0562	0.0697	0.0583	0.0508	0.0514612	7956	154602	rs72997200	0.0628	0.0628	0.0621	0.0635	0.0723	0.0625	0.0623	0.0677	0.0675	0.0099	0.0334	0.0877	0.0001	0.0583	0.0723	0.0681	0.0634	0.0532	0.0460	0.0460	0.0470	0.0449	0.0674	0.0451	0.0447	0.0658	0.0652	0.0112	0.0088	0.0462	0.0871	0.0006	0.0525	0.1054	0.0674	0.0540	0.0466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.049089	0.051020	0.036685	0.029240	0.150000	0.068966	0.088957	0.037879	0.1	1728.14	36	chr19	19196988	.	C	T	1728.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.28;DP=407;ExcessHet=0.2348;FS=8.319;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.42;SOR=1.367	GT:AD:DP:GQ:PL	0/1:33,38:71:99:1059,0,781	8	0	2	0
chr19	55154042	55154042	C	T	exonic	TNNI3	.	unknown	UNKNOWN	Cardiomyopathy, dilated, 1FF;Cardiomyopathy, familial restrictive, 1, Autosomal dominant;Cardiomyopathy, hypertrophic, 7, Autosomal dominant	14	1118	329	61	0	451	0.167845	.	.	YES	52561	Cardiovascular_phenotype|not_specified|Hypertrophic_cardiomyopathy|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|Dilated_cardiomyopathy_2A|Cardiomyopathy|Cardiomyopathy,_familial_restrictive,_1|Hypertrophic_cardiomyopathy_7|Primary_ciliary_dyskinesia	MedGen:CN230736|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN239247|MONDO:MONDO:0012746,MedGen:C2678474,OMIM:611880,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0007270,MedGen:C1861861,OMIM:115210,Orphanet:75249|MONDO:MONDO:0013369,MedGen:C1860752,OMIM:613690|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0485	0.0477236	0.0660	0.0124	0.0333	0.0448	0.0631	0.0718	0.0944	0.1065	0.0637314	9853	154602	rs3729841	0.0678	0.0679	0.0658	0.0699	0.1603	0.0675	0.0673	0.1510	0.1473	0.0123	0.0360	0.0934	0.0259	0.0627	0.1603	0.0680	0.0744	0.1089	0.0510	0.0512	0.0507	0.0512	0.1023	0.0500	0.0496	0.0949	0.0919	0.0122	0.1086	0.0409	0.0968	0.0417	0.0598	0.1463	0.0686	0.0696	0.1023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.131923	0.080808	0.118207	0.178363	0.100000	0.086207	0.143293	0.128788	0.15	5216.45	43	chr19	55154042	.	C	T	5216.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.777;DP=690;ExcessHet=0.7463;FS=2.431;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.03;SOR=0.532	GT:AD:DP:GQ:PL	0/1:89,77:166:99:2023,0,2254	7	0	3	0
chr19	57231146	57231146	-	C	UTR5	AURKC	NM_001015878:c.-103_-102insC	.	.	Spermatogenic failure 5, Autosomal recessive	65	466	590	401	0	1392	0.598967	.	.	.	334414	not_provided|Spermatogenic_Failure	MedGen:C3661900|MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4072	0.3027	0.4348	0.1299	0.4643	0.4440	0.3444	0.4291	0.0002135	33	154602	rs1222518063	0.5018	0.4825	0.5004	0.5033	0.5193	0.5008	0.5004	0.5182	0.5177	0.3396	0.4275	0.5439	0.1515	0.5479	0.4851	0.5193	0.4757	0.5051	0.4596	0.4598	0.4598	0.4594	0.5284	0.4567	0.4556	0.5239	0.5220	0.3529	0.6520	0.4464	0.5419	0.1650	0.5417	0.4795	0.5284	0.4558	0.4827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	7829.44	48	chr19	57231146	.	G	GC	7829.44	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.875;DP=511;ExcessHet=0.3701;FS=0.426;InbreedingCoeff=0.1667;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=21.16;ReadPosRankSum=0.347;SOR=0.734	GT:AD:DP:GQ:PL	0/1:24,21:45:99:547,0,649	2	4	4	0
chr20	44429378	44429378	T	C	intronic	HNF4A	.	.	.	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	212	501	433	376	0	1185	0.541838	.	.	.	669135	not_provided|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.380192	.	.	.	.	.	.	.	.	0.091894	14207	154602	rs3746574	0.4904	0.4943	0.4926	0.4883	0.5585	0.4890	0.4885	0.5351	0.5260	0.3847	0.2913	0.6353	0.3116	0.4854	0.5585	0.5285	0.4894	0.3970	0.4582	0.4591	0.4651	0.4511	0.5235	0.4554	0.4542	0.5189	0.5171	0.3855	0.5872	0.3784	0.6432	0.2994	0.4658	0.5788	0.5235	0.4867	0.3900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	775.62	9	chr20	44429378	.	T	C	775.62	.	AC=10;AF=0.556;AN=18;DP=50;ExcessHet=0;FS=0;InbreedingCoeff=0.7646;MLEAC=10;MLEAF=0.556;MQ=60;QD=33.72;SOR=2.4	GT:AD:DP:GQ:PL	1/1:0,4:4:12:132,12,0	4	5	0	1
chr20	63350051	63350051	C	T	exonic	CHRNA4	.	nonsynonymous SNV	CHRNA4:NM_000744:exon5:c.G1360A:p.G454S,CHRNA4:NM_001256573:exon5:c.G832A:p.G278S	Epilepsy, nocturnal frontal lobe, 1, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	203653	Inborn_genetic_diseases|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020300,MedGen:C3696898,Orphanet:98784|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.160	0.0745075943865	.	.	0.0009	0	0.0023	0	0	0.0009	0	0.0024	0.000207	32	154602	rs78306886	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	3.231e-05	0.0002	0	0	0.0003	0	0.0002	0.0002	0.0004	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	8.715e-05	0.0003	0.0002	2.406e-05	0	0	0	0	0.0002	0	0.0002	0	0.0008	1.0	0.00964	T	0.357	0.18846	T	0.001	0.07471	B	0.001	0.04355	B	0.000000	0.00162	N	23.961300	1	0.08975	N	-0.305	0.03614	N	-0.94	0.75325	T	-0.06	0.07882	N	0.064	0.03613	-0.8873	0.49163	T	0.194	0.54811	T	10	0.015547037	0.00326	T	0.074508	0.72059	D	0.160	0.41473	.	.	0.453772157364	0.45001	0.231048860098491	0.23019	0.397231007556	0.40817	0.37100815773	0.20977	T	0.202893	0.56120	T	-0.461284	0.00965	T	-0.519651	0.20331	T	0.00605308653931316	0.00067	T	0.524448	0.17180	T	0.04909112	0.08663	0.07633782	0.16897	0.04909112	0.08663	0.07633782	0.16897	-3.501	0.16445	T	0.03734474626800161	0.00248	0.065	0.04640	B	.;.	.;.	-0.819570	0.01069	0.047	0.40278633091310984	0.02832	0.01472	0.04908	N	AEFBI	0.058499	0.10979	N	-1.57011433014381	0.01420	0.06194469	-1.5450640880822	0.02010	0.09184581	6.93613943505824E-4	0.07645	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.55	-0.193	0.12593	-0.145000	0.10248	-5.628000	0.01651	-0.703000	0.04025	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7993:0.0:0.2007	12.235	0.53821	.	.	Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000515	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1408.43	114	chr20	63350051	.	C	T	1408.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=1056;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.352;SOR=0.647	GT:AD:DP:GQ:PL	0/1:52,55:107:99:1420,0,1215	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|1:14,46:60:15:0|1:34449516_CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG_C:15,0,507:34449516	7	0	3	0
chr22	33283291	33283291	C	T	exonic	LARGE1	.	synonymous SNV	LARGE1:NM_001378630:exon9:c.G1185A:p.A395A,LARGE1:NM_001378629:exon12:c.G1632A:p.A544A,LARGE1:NM_001362951:exon13:c.G1788A:p.A596A,LARGE1:NM_001362953:exon13:c.G1788A:p.A596A,LARGE1:NM_001378626:exon13:c.G1788A:p.A596A,LARGE1:NM_133642:exon13:c.G1788A:p.A596A,LARGE1:NM_001362949:exon14:c.G1788A:p.A596A,LARGE1:NM_001378624:exon14:c.G1788A:p.A596A,LARGE1:NM_001378625:exon14:c.G1788A:p.A596A,LARGE1:NM_004737:exon14:c.G1788A:p.A596A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	177815	LARGE1-related_disorder|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A6|Muscular_dystrophy-dystroglycanopathy_type_B6|not_specified|not_provided	.|MONDO:MONDO:0013158,MedGen:C3150414,OMIM:613154,Orphanet:588,Orphanet:899|MONDO:MONDO:0012138,MedGen:C1837229,OMIM:608840,Orphanet:98894|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0037	0.000599042	0.0027	0.0004	0.0004	0.0001	0.0029	0.0040	0.0044	0.0016	0.0028137	435	154602	rs74550830	0.0035	0.0035	0.0036	0.0035	0.0038	0.0034	0.0034	0.0037	0.0037	0.0006	0.0003	0.0140	2.519e-05	0.0027	0.0002	0.0038	0.0031	0.0019	0.0022	0.0022	0.0024	0.0019	0.0032	0.0020	0.0019	0.0029	0.0027	0.0006	0.0011	0.0003	0.0147	0.0002	0.0021	0	0.0032	0.0005	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	2073.43	35	chr22	33283291	.	C	T	2073.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.75;DP=494;ExcessHet=0;FS=4.398;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.284;SOR=0.443	GT:AD:DP:GQ:PL	0/1:88,87:175:99:2085,0,1814	9	0	1	0
chr22	43928847	43928847	C	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon3:c.C444G:p.I148M	.	418	622	397	85	0	567	0.313087	.	.	.	352627	NAFLD1|Hepatic_steatosis|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|Human_Phenotype_Ontology:HP:0001397,Human_Phenotype_Ontology:HP:0002252,Human_Phenotype_Ontology:HP:0200121,MONDO:MONDO:0004790,MedGen:C2711227|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.339	.	0.1953	0.262181	0.2632	0.1376	0.5723	0.3785	0.2262	0.2293	0.2687	0.2174	0.255825	39551	154602	rs738409	0.2325	0.2339	0.2333	0.2317	0.5358	0.2319	0.2316	0.5301	0.5278	0.1320	0.5358	0.2180	0.4180	0.2272	0.2696	0.2179	0.2294	0.2237	0.2281	0.2285	0.2230	0.2335	0.4235	0.2261	0.2253	0.4148	0.4113	0.1395	0.2720	0.4235	0.2111	0.3866	0.2201	0.2483	0.2262	0.2624	0.2372	0.054	0.38633	T	0.003	0.76473	D	0.994	0.66517	D	0.944	0.68059	D	0.016391	0.27990	N	0.316000	0.000289165	0.48481	P	3.045	0.86684	M	-1.41	0.80560	T	-2.57	0.55501	D	0.173	0.18512	-1.0285	0.20940	T	0.000	0.00011	T	9	0.0025928915	0.00039	T	.	.	.	0.339	0.66106	.	.	.	.	0.6869485544173306	0.68634	0.503164557005	0.48655	0.487125337124	0.37040	T	0.29702	0.66963	T	-0.485539	0.00687	T	-0.326399	0.41867	T	0.0306719473680774	0.02094	T	0.692831	0.33234	T	0.40859076	0.61323	0.35764056	0.61255	0.40859076	0.61324	0.35764056	0.61254	-9.124	0.68491	D	.	.	0.329	0.55166	B	.;.	.;.	1.374372	0.17849	13.40	0.99302197316743868	0.58686	0.52933	0.29250	D	AEFBCI	0.108930	0.21653	N	-0.255780834863084	0.30874	1.725634	-0.533311740709871	0.21251	1.14871	0.99975902258671	0.42595	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.7	-1.97	0.07091	-1.142000	0.03314	-1.110000	0.06300	-0.176000	0.10722	0.009000	0.18154	0.001000	0.17328	0.035000	0.13729	0.0:0.4064:0.2195:0.3741	6.383	0.20749	855	0.34697	Patatin-like phospholipase domain|Patatin-like phospholipase domain;.	SAMM50|SAMM50|SAMM50|PNPLA3|PNPLA3	Adipose_Subcutaneous|Breast_Mammary_Tissue|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	SAMM50|SAMM50|SAMM50|PNPLA3|SAMM50	Artery_Tibial|Colon_Sigmoid|Prostate|Skin_Sun_Exposed_Lower_leg|Testis	rs738409	Benign	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.264854	0.257576	0.247283	0.321637	0.300000	0.258621	0.259146	0.257576	0.25	9352.15	120	chr22	43928847	.	C	G	9352.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.731;DP=798;ExcessHet=2.8389;FS=3.252;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=0.265;SOR=0.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,51:103:99:0|1:43928847_C_G:1954,0,2025:43928847	5	0	5	0
chr22	43946236	43946236	A	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon9:c.A1300G:p.K434E	.	425	173	454	470	0	1394	0.801149	.	.	.	348026	NAFLD1|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.017	.	0.6804	0.78774	0.6778	0.8611	0.8057	0.8322	0.6554	0.5962	0.6388	0.7327	0.0001153	3	26028	rs2294918	0.6218	0.6218	0.6202	0.6233	0.8702	0.6207	0.6203	0.8619	0.8584	0.8702	0.7873	0.5490	0.8576	0.6661	0.5541	0.5901	0.6326	0.7308	0.6982	0.6981	0.6951	0.7015	0.8610	0.6947	0.6932	0.8535	0.8504	0.8610	0.6425	0.7237	0.5597	0.8298	0.6607	0.5816	0.5952	0.6660	0.7406	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000015	0.00162	N	19.533000	1	0.08975	P	0	0.06538	N	1.36	0.34452	T	0.19	0.04947	N	0.019	0.00279	-0.9931	0.31801	T	0.000	0.00011	T	9	8.5539574e-07	0.00003	T	.	.	.	0.017	0.02790	.	.	.	.	0.05719318555232301	0.05660	0.137088814673	0.15461	0.239135712385	0.02714	T	0.010383	0.09385	T	-0.82347	0.00005	T	-0.811814	0.01625	T	0.00113151014656881	0.00011	T	0.244976	0.03588	T	0.035668463	0.04242	0.042643968	0.05128	0.035668463	0.04242	0.042643968	0.05127	-2.186	0.03973	T	.	.	0.058	0.00890	B	.;.	.;.	-1.082945	0.00661	0.018	0.39555136886056874	0.02736	0.00156	0.00937	N	AEFDGBHCI	0.021339	0.00939	N	-1.81887812851011	0.00501	0.0215479	-1.90850098273576	0.00471	0.02085658	0.999999999962969	0.74766	0.696267	0.57585	0	0.858003	0.99906	0	0.779548	0.98927	0	0.629945	0.49285	0	.	.	2.74	-5.47	0.02396	-1.929000	0.01650	-5.037000	0.01876	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4592:0.1451:0.2489:0.1468	1.474	0.02276	836	0.38045	.;.	SAMM50|SAMM50|PNPLA3|PNPLA3|SAMM50	Cells_Cultured_fibroblasts|Esophagus_Muscularis|Lung|Spleen|Whole_Blood	.	.	.	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	0.568983	0.565657	0.542120	0.570175	0.550000	0.517241	0.573171	0.662879	0.65	24424.0	126	chr22	43946236	.	A	G	24424.0	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-1.861;DP=1517;ExcessHet=7.0302;FS=0.54;InbreedingCoeff=-0.5385;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=0.218;SOR=0.757	GT:AD:DP:GQ:PL	0/1:89,74:163:99:1701,0,2230	0	3	7	0
chrX	133704278	133704278	A	-	intronic	GPC3	.	.	.	Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive;Wilms tumor, somatic	1	149	65	0	11	76	0.179063	.	.	.	1164583	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3076	0.2675	0.3111	0.3898	0.3058	0.3709	0.3238	0.1926	0.0006916	18	26028	rs374169314	0.1287	0.1448	0.1649	0.0007	0.1730	0.1280	0.1276	0.1670	0.1646	0.1118	0.1730	0.1608	0.1657	0.1779	0.1065	0.1249	0.1391	0.1169	0.0077	0.0090	0.0082	0.0061	0.0202	0.0072	0.0070	0.0188	0.0182	0.0202	0	0.0056	0.0043	0.0049	0.0071	0.0052	0.0013	0.0074	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	152.57	84	chrX	133704277	.	GA	G	152.57	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.225;DP=528;ExcessHet=4.5998;FS=1.058;InbreedingCoeff=-0.3887;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=0.1;SOR=0.777	GT:AD:DP:GQ:PL	0/1:45,5:59:3:3,0,1065	4	0	6	0
chrX	154362534	154362534	G	A	exonic	FLNA	.	nonsynonymous SNV	FLNA:NM_001110556:exon17:c.C2449T:p.P817S,FLNA:NM_001456:exon17:c.C2449T:p.P817S	Cardiac valvular dysplasia, X-linked, X-linked recessive;Congenital short bowel syndrome, X-linked recessive;FG syndrome 2;Frontometaphyseal dysplasia 1, X-linked recessive;Heterotopia, periventricular, X-linked dominant;Intestinal pseudoobstruction, neuronal, X-linked recessive;Melnick-Needles syndrome, X-linked dominant;Otopalatodigital syndrome, type I, X-linked dominant;Otopalatodigital syndrome, type II, X-linked dominant;Terminal osseous dysplasia	1	1519	2	0	0	2	0.000657895	.	.	.	191890	not_specified|Heterotopia,_periventricular,_X-linked_dominant|Oto-palato-digital_syndrome,_type_II|Melnick-Needles_syndrome|Frontometaphyseal_dysplasia|Connective_tissue_disorder|Disorder_of_sexual_differentiation|FLNA-related_disorder|not_provided|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MedGen:CN169374|MONDO:MONDO:0010233,MedGen:C1848213,OMIM:300049,Orphanet:2149,Orphanet:82004|MONDO:MONDO:0010571,MedGen:C1844696,OMIM:304120,Orphanet:669,Orphanet:90652|MONDO:MONDO:0010650,MedGen:C0025237,OMIM:309350,Orphanet:2484|MONDO:MONDO:0015942,MedGen:C0265293,OMIM:PS305620,Orphanet:1826|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0002145,MedGen:C2930619,Orphanet:90771|.|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.320	0.170743209791	0.0002	.	0.0005	0	0.0001	0	0.0002	0.0008	0	0.0007	0.0005045	78	154602	rs200053635	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0004	0.0007	0.0006	3.788e-05	2.84e-05	0.0002	0	0.0001	0.0010	0.0005	0.0004	0.0009	0.0003	0.0003	0.0003	0.0003	0.0018	0.0002	0.0002	0.0007	0.0005	0	0	9.326e-05	0	0	0	0	0.0005	0	0.0018	0.009	0.57480	D	0.024	0.56640	D	0.996	0.68779	D	0.983	0.75793	D	0.000023	0.55875	N	0.069507	0.999266	0.46490	D	2.42	0.70002	M	-0.56	0.71187	T	-4.3	0.76496	D	0.109	0.39760	-0.0163	0.81916	T	0.519	0.82028	D	10	0.0738256	0.11204	T	0.170743	0.84821	D	0.320	0.64215	.	.	0.862928642666	0.86159	0.5124451592651809	0.51166	0.679247475551	0.59926	0.561857461929	0.47530	T	0.777463	0.94095	D	-0.356586	0.04327	T	-0.370492	0.36831	T	0.0884660829645406	0.11033	T	0.957004	0.83719	D	0.2130943	0.43679	0.33343104	0.59180	0.2130943	0.43679	0.33343104	0.59179	-9.267	0.69400	D	0.27806414843201943	0.37291	0.172	0.43186	B	.;.;.;.;.	.;.;.;.;.	3.274559	0.44839	22.0	0.99204873185051512	0.55412	0.71265	0.34939	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999999952404109	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.13	4.26	0.49832	3.460000	0.52793	10.019000	0.83127	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.177000	0.21203	0.0783:0.1303:0.6544:0.137	6.054	0.19026	84	0.96491	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000688	0.000000	0.000000	0.003953	0.000000	0.000000	0.000000	0.000000	0.05	1829.43	40	chrX	154362534	.	G	A	1829.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.105;DP=512;ExcessHet=0;FS=2.699;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.221;SOR=0.516	GT:AD:DP:GQ:PL	0/1:87,80:167:99:1841,0,2090	9	0	1	0