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-F	WT	HH	HZ	NC
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	1/1:0,172:172:99:5278,515,0	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	0/1:20,27:47:99:1068,0,738	3	2	5	0
chr1	92478757	92478757	-	AGAG	intronic	GFI1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	281299	Severe_congenital_neutropenia|not_specified|not_provided|Neutropenia,_severe_congenital,_2,_autosomal_dominant	MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013139,MedGen:C2751288,OMIM:613107,Orphanet:486	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0916	0.0751	0.0911	0.1635	0.0498	0.0708	0.1063	0.1619	0.0015368	40	26028	rs371078453	0.1110	0.1279	0.1091	0.1129	0.2324	0.1105	0.1103	0.2281	0.2264	0.1254	0.1540	0.0871	0.2324	0.0832	0.1143	0.1014	0.1134	0.1787	0.0539	0.0560	0.0542	0.0536	0.1130	0.0529	0.0525	0.1101	0.1089	0.1130	0.0071	0.0369	0.0143	0.0747	0.0196	0.0331	0.0316	0.0415	0.0444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	6659.93	25	chr1	92478757	.	C	CAGAG	6659.93	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0;DP=441;ExcessHet=0;FS=3.634;InbreedingCoeff=-0.0526;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=29.59;ReadPosRankSum=0;SOR=1.6	GT:AD:DP:GQ:PL	0/1:0,5:18:84:755,346,293	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	0/1:1,5:10:30:320,30,44	7	1	2	0
chr1	108929928	108929928	G	A	exonic	GPSM2	.	synonymous SNV	GPSM2:NM_001321038:exon15:c.G2043A:p.S681S,GPSM2:NM_001321039:exon15:c.G2043A:p.S681S,GPSM2:NM_013296:exon15:c.G2043A:p.S681S	Chudley-McCullough syndrome, Autosomal recessive	2	1504	15	1	0	17	0.00561983	.	.	.	54732	not_provided|not_specified|Chudley-McCullough_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011411,MedGen:C1858695,OMIM:604213,Orphanet:314597	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0035	0.000599042	0.0017	0.0021	0.0005	0	0.0002	0.0025	0.0022	0.0011	0.0014942	231	154602	rs140949805	0.0012	0.0013	0.0012	0.0013	0.0061	0.0012	0.0012	0.0045	0.0039	0.0025	0.0007	0.0013	5.041e-05	0.0001	0.0061	0.0013	0.0016	0.0012	0.0017	0.0017	0.0018	0.0016	0.0024	0.0015	0.0015	0.0020	0.0019	0.0024	0	0.0014	0.0023	0	9.457e-05	0.0102	0.0018	0.0024	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	0.004663	0.005051	0.006793	0.003497	0.000000	0.000000	0.003049	0.003788	0.05	1386.43	35	chr1	108929928	.	G	A	1386.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.98;DP=479;ExcessHet=0;FS=0.653;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-0.061;SOR=0.62	GT:AD:DP:GQ:PL	0/1:78,56:134:99:1398,0,1817	9	0	1	0
chr1	115768745	115768745	-	CACACACA	upstream	CASQ2	dist=31	.	.	Ventricular tachycardia, catecholaminergic polymorphic, 2, Autosomal recessive	174	45	1	6	0	13	0.126214	.	.	.	276560	not_provided|Catecholaminergic_polymorphic_ventricular_tachycardia	MedGen:C3661900|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs146969305	0.1842	0.1553	0.1850	0.1836	0.3021	0.1831	0.1827	0.2964	0.2941	0.2111	0.2019	0.1468	0.3021	0.1712	0.2459	0.1677	0.1886	0.2083	0.2268	0.2282	0.2245	0.2291	0.3736	0.2247	0.2239	0.3595	0.3538	0.2535	0.4339	0.2294	0.1687	0.3736	0.2257	0.3000	0.1986	0.2242	0.2367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	236.27	5	chr1	115768745	.	G	GCACACACA	236.27	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.674;DP=24;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=29.53;ReadPosRankSum=-0.674;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:180,12,0	4	1	1	4
chr1	145927447	145927447	C	T	ncRNA_exonic	LIX1L-AS1	.	.	.	.	1	1437	82	2	0	86	0.0290541	.	.	YES	39421	Radial_aplasia-thrombocytopenia_syndrome|RBM8A-related_disorder|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0010121,MeSH:C536940,MedGen:C0175703,OMIM:274000,Orphanet:3320|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-05	0	0	0	0	2.117e-05	0	0	6.5e-06	1	154602	rs139428292	0.0260	0.0260	0.0263	0.0257	0.0323	0.0258	0.0257	0.0300	0.0299	0.0045	0.0126	0.0206	2.53e-05	0.0161	0.0323	0.0302	0.0236	0.0073	0.0184	0.0185	0.0193	0.0176	0.0291	0.0179	0.0176	0.0280	0.0276	0.0056	0.0396	0.0148	0.0159	0.0004	0.0181	0.0238	0.0291	0.0213	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1744.43	36	chr1	145927447	.	C	T	1744.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.57;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-1.279;SOR=0.668	GT:AD:DP:GQ:PL	0/1:56,65:121:99:1756,0,1214	9	0	1	0
chr1	146019387	146019387	C	-	exonic	HJV	.	frameshift deletion	HJV:NM_145277:exon2:c.106delG:p.D36Tfs*97,HJV:NM_001379352:exon3:c.445delG:p.D149Tfs*97,HJV:NM_213653:exon3:c.445delG:p.D149Tfs*97	.	.	.	.	.	.	.	.	.	.	.	1318616	not_provided|Hemochromatosis_type_2A	MedGen:C3661900|MONDO:MONDO:0011216,MedGen:C1865614,OMIM:602390,Orphanet:79230	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.79e-06	4.788e-06	6.808e-06	2.751e-06	5.396e-06	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1756.39	34	chr1	146019386	.	TC	T	1756.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.658;DP=408;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.19;ReadPosRankSum=0.164;SOR=0.749	GT:AD:DP:GQ:PL	0/1:36,51:87:99:1768,0,1191	9	0	1	0
chr1	154869723	154869723	-	GCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.241_242insAGCAGCAGC:p.Q80_P81insQQQ,KCNN3:NM_002249:exon1:c.241_242insAGCAGCAGC:p.Q80_P81insQQQ	.	384	237	23	45	833	946	0.192504	.	.	.	390549	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1054	0.0996	0.0511	0.0192	0.0319	0.0749	0.0517	0.1534	0.0001153	3	26028	rs3831942	0.1186	0.1275	0.1184	0.1189	0.2071	0.1181	0.1179	0.2028	0.2010	0.2071	0.0673	0.1121	0.0183	0.1391	0.1365	0.1193	0.1125	0.1368	0.1340	0.1347	0.1330	0.1351	0.2092	0.1324	0.1317	0.2053	0.2038	0.2092	0.0747	0.0816	0.1011	0.0113	0.1367	0.1809	0.1127	0.1263	0.1329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	16562.1	55	chr1	154869723	.	G	GGCTGCTGCT	16562.1	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.26;DP=869;ExcessHet=0.2348;FS=3.136;InbreedingCoeff=-0.1111;MLEAC=3;MLEAF=0.15;MQ=59.96;MQRankSum=0;QD=29.58;ReadPosRankSum=0.749;SOR=1.018	GT:AD:DP:GQ:PL	0/1:0,18:38:99:1650,687,612	7	0	3	0
chr1	155613731	155613731	C	T	exonic	MSTO1	.	nonsynonymous SNV	MSTO1:NM_001256532:exon13:c.C1463T:p.P488L,MSTO1:NM_001256533:exon13:c.C1463T:p.P488L,MSTO1:NM_001350772:exon13:c.C1463T:p.P488L,MSTO1:NM_001350775:exon13:c.C1463T:p.P488L,MSTO1:NM_001350776:exon13:c.C1298T:p.P433L,MSTO1:NM_001350777:exon13:c.C932T:p.P311L,MSTO1:NM_001350778:exon13:c.C932T:p.P311L,MSTO1:NM_001350779:exon13:c.C932T:p.P311L,MSTO1:NM_001350780:exon13:c.C929T:p.P310L,MSTO1:NM_001350781:exon13:c.C929T:p.P310L,MSTO1:NM_001350782:exon13:c.C929T:p.P310L,MSTO1:NM_001350783:exon13:c.C929T:p.P310L,MSTO1:NM_001350784:exon13:c.C920T:p.P307L,MSTO1:NM_001350785:exon13:c.C920T:p.P307L,MSTO1:NM_001350787:exon13:c.C920T:p.P307L,MSTO1:NM_001350788:exon13:c.C929T:p.P310L,MSTO1:NM_001350789:exon13:c.C920T:p.P307L,MSTO1:NM_018116:exon13:c.C1463T:p.P488L	.	439	1068	15	0	0	15	0.0069735	.	.	.	1666768	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.016	.	0.0002	.	0.0036	0	0.0038	0	0	0.0015	0.0067	0.0146	3.84e-05	1	26028	rs371544149	0.0012	0.0020	0.0009	0.0014	0.0081	0.0011	0.0011	0.0076	0.0074	5.979e-05	0.0012	3.855e-05	5.04e-05	7.513e-05	0.0054	0.0008	0.0011	0.0081	0.0004	0.0008	0.0003	0.0004	0.0038	0.0003	0.0003	0.0024	0.0020	0.0001	0	0.0003	0	0	0	0	0.0004	0.0010	0.0038	0.297	0.24661	T	0.301	0.20486	T	0.001	0.18677	B	0.0	0.11217	B	0.288099	0.14819	N	0.678176	1	0.81001	D	0.345	0.11182	N	1.0	0.44856	T	-0.78	0.21644	N	0.101	0.15469	-0.9575	0.39644	T	0.015	0.05994	T	10	0.014746696	0.00310	T	.	.	.	0.016	0.02506	.	.	0.0986583533028	0.09354	0.22886159292364927	0.22801	1.92971752332	0.93121	0.345399171114	0.17243	T	0.00542	0.04871	T	-0.600092	0.00146	T	-0.628652	0.10516	T	0.0033788561413463	0.00036	T	0.632737	0.24712	T	0.021096935	0.00696	0.018753054	0.00065	0.021096935	0.00695	0.018753054	0.00065	-1.94	0.17582	T	.	.	0.069	0.13268	B	.;.	.;.	1.294612	0.16958	12.87	0.58853663848333626	0.06088	0.02482	0.06953	N	AEFGBI	0.065274	0.12723	N	-1.38921320159355	0.02738	0.1213502	-1.39531347365755	0.03301	0.1537373	4.84865797646949E-5	0.03989	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	2.65	1.48	0.21900	0.578000	0.23476	1.800000	0.28874	-0.304000	0.06167	0.003000	0.16062	0.314000	0.24288	0.002000	0.04165	0.7133:0.2867:0.0:0.0	5.718	0.17238	79	0.96716	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005896	0.000000	0.004098	0.017391	0.000000	0.008929	0.003704	0.000000	0.05	188.43	34	chr1	155613731	.	C	T	188.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.266;DP=399;ExcessHet=0;FS=2.334;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=30.5;MQRankSum=-1.144;QD=2.42;ReadPosRankSum=-0.47;SOR=0.427	GT:AD:DP:GQ:PL	0/1:62,16:78:99:200,0,1473	9	0	1	0
chr1	158667914	158667914	C	T	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon15:c.G1982A:p.R661H	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	277722	not_specified|SPTA1-related_disorder|Elliptocytosis_2|Pyropoikilocytosis,_hereditary|Hereditary_spherocytosis_type_3|not_provided	MedGen:CN169374|.|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.239	0.244912499966	0.0012	0.00139776	0.0016	0.0008	0.0017	0.0001	0.0002	0.0013	0.0033	0.0048	0.0016041	248	154602	rs201845149	0.0018	0.0018	0.0017	0.0019	0.0057	0.0018	0.0018	0.0053	0.0051	0.0008	0.0009	0.0023	0	1.872e-05	0.0024	0.0017	0.0019	0.0057	0.0016	0.0016	0.0012	0.0019	0.0066	0.0014	0.0013	0.0048	0.0042	0.0006	0.0219	0.0018	0.0020	0.0002	0	0	0.0019	0.0005	0.0066	0.015	0.52492	D	0.0	0.92824	D	0.381	0.34388	B	0.292	0.40739	B	0.005757	0.32538	N	0.000000	0.999957	0.52396	D	2.65	0.77586	M	0.47	0.56114	T	-4.17	0.75456	D	0.643	0.65501	-0.8007	0.55103	T	0.136	0.45087	T	10	0.013627291	0.00288	T	0.244912	0.88864	D	0.239	0.54358	.	.	0.774208327972	0.77213	0.25969210225389694	0.25883	0.233724262705	0.25910	0.346686273813	0.17433	T	0.544069	0.84441	D	-0.297188	0.08927	T	-0.197747	0.54859	T	0.0621641350942771	0.07505	T	0.676232	0.28483	T	0.19862653	0.41773	0.16974567	0.39032	0.21184751	0.43520	0.1790239	0.40609	-6.629	0.51274	T	0.7337995041507219	0.81557	0.146	0.32251	B	.;.	.;.	3.717497	0.53105	23.3	0.99911957871752299	0.98095	0.94279	0.60662	D	AEFBI	0.512283	0.54056	D	-0.022429841843719	0.40841	2.432441	-0.0515949214927823	0.37420	2.190834	0.563869069234512	0.21436	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.83	3.91	0.44383	4.494000	0.60068	3.289000	0.37290	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.755000	0.35964	0.1574:0.8426:0.0:0.0	13.451	0.60621	603	0.67726	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1230.43	33	chr1	158667914	.	C	T	1230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.12;DP=400;ExcessHet=0;FS=5.718;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-0.992;SOR=0.309	GT:AD:DP:GQ:PL	0/1:36,51:87:99:1242,0,759	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	0/1:29,8:43:53:53,0,664	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	0/1:11,14:25:99:.:.:367,0,275:.	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	0/1:36,31:75:99:1188,0,1516	4	1	5	0
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	0/1:62,71:133:99:1723,0,1410	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	0/1:126,115:241:99:3003,0,3042	4	1	5	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	1/1:0,89:89:99:2607,266,0	2	3	5	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	0/1:69,83:152:99:2134,0,1852	1	3	6	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	0/1:41,36:77:99:934,0,945	8	0	2	0
chr1	210094549	210094551	GAA	-	exonic	SYT14	.	nonframeshift deletion	SYT14:NM_001146262:exon5:c.670_672del:p.E225del,SYT14:NM_153262:exon5:c.670_672del:p.E225del,SYT14:NM_001146261:exon6:c.805_807del:p.E270del,SYT14:NM_001146264:exon6:c.805_807del:p.E270del,SYT14:NM_001256006:exon6:c.556_558del:p.E187del	Spinocerebellar ataxia, autosomal recessive 11, Autosomal recessive	0	1200	287	35	0	357	0.129489	.	.	.	206755	not_specified|not_provided|Autosomal_recessive_spinocerebellar_ataxia_11	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013645,MedGen:C5190803,OMIM:614229,Orphanet:284271	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1	0.0796725	0.1181	0.0239	0.0504	0.0786	0.2129	0.1395	0.1186	0.1194	0.0182112	474	26028	rs1188666462	0.1323	0.1324	0.1321	0.1326	0.1391	0.1319	0.1316	0.1385	0.1382	0.0202	0.0601	0.0707	0.1022	0.2138	0.0961	0.1391	0.1184	0.1212	0.1023	0.1027	0.0981	0.1068	0.1369	0.1010	0.1004	0.1346	0.1336	0.0247	0.1685	0.0763	0.0714	0.0866	0.2251	0.0952	0.1369	0.0900	0.1295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3557.1	112	chr1	210094548	.	TGAA	T	3557.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.46;DP=519;ExcessHet=0.2348;FS=4.998;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=1.15;SOR=1.041	GT:AD:DP:GQ:PL	0/1:54,52:106:99:2021,0,2101	8	0	2	0
chr1	215671031	215671031	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon64:c.G14074A:p.G4692R	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	0	1493	28	1	0	30	0.00994695	.	.	YES	57589	Usher_syndrome_type_2A|Retinitis_pigmentosa_39|not_specified|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.433	0.56446389033	0.0048	0.00219649	0.0048	0.0014	0.0022	0	0.0023	0.0072	0.0011	0.0027	0.0050517	781	154602	rs45549044	0.0067	0.0067	0.0068	0.0066	0.0080	0.0066	0.0066	0.0078	0.0078	0.0012	0.0022	0.0004	5.038e-05	0.0027	0.0052	0.0080	0.0059	0.0032	0.0042	0.0042	0.0045	0.0039	0.0075	0.0039	0.0038	0.0069	0.0067	0.0015	0.0055	0.0014	0	0	0.0016	0.0102	0.0075	0.0043	0.0035	0.041	0.41915	D	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	0.000996	0.40743	U	0.000000	0.972881	0.38981	D	1.63	0.41750	L	0.46	0.56281	T	-3.9	0.72932	D	0.751	0.75009	-0.7756	0.56548	T	0.190	0.54213	T	10	0.01668179	0.00353	T	0.564464	0.96037	D	0.433	0.73879	0.764	0.89213	0.873267043112	0.87203	0.6539209591646689	0.65328	0.228862989454	0.25439	0.423841416836	0.28365	T	0.313544	0.68529	T	-0.106726	0.35311	T	0.0875454	0.76081	D	0.0187997115715382	0.00591	T	0.859714	0.55187	D	0.2388664	0.46770	0.30004802	0.56038	0.2388664	0.46770	0.30004802	0.56037	-10.165	0.74893	D	0.7067154624936425	0.78641	0.345	0.56218	A	.	.	3.947307	0.57808	23.9	0.99580028881389804	0.72921	0.82560	0.41771	D	AEFI	0.265091	0.38229	N	0.186135652831798	0.50535	3.242436	0.102961599110356	0.44699	2.746691	0.311064590805169	0.19287	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.09	4.17	0.48303	3.484000	0.52965	5.915000	0.51078	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.796000	0.37562	0.0:0.9246:0.0:0.0754	13.484	0.60812	656	0.62345	Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	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	0.004532	0.000000	0.001359	0.005848	0.000000	0.008621	0.003049	0.007576	0.05	1645.43	35	chr1	215671031	.	C	T	1645.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.63;DP=443;ExcessHet=0;FS=5.341;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=0.113;SOR=1.125	GT:AD:DP:GQ:PL	0/1:69,62:131:99:1657,0,1611	9	0	1	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	1/1:0,117:117:99:3940,351,0	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	0/1:41,41:82:99:1241,0,1103	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	0/1:26,38:64:99:1508,0,976	5	2	3	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	0/1:46,8:57:14:14,0,1060	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	0/1:3,8:11:47:178,0,47	1	0	9	0
chr1	241497726	241497726	A	G	UTR3	FH	NM_000143:c.*102T>C	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	19	206	1	0	0	1	0.00242131	.	.	.	281814	Hereditary_leiomyomatosis_and_renal_cell_cancer|Fumarase_deficiency	Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200093224	0.0002	0.0002	0.0002	0.0003	0.0036	0.0002	0.0002	0.0020	0.0016	0	0.0002	0.0001	0	0	0.0036	7.818e-05	0.0002	0.0019	0.0001	0.0001	0.0001	0.0001	0.0010	8.162e-05	6.719e-05	0.0004	0.0003	2.405e-05	0	0.0003	0	0	0	0.0034	0.0001	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	213.67	11	chr1	241497726	.	A	G	213.67	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0;DP=58;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=30.52;ReadPosRankSum=0.792;SOR=2.584	GT:AD:DP:GQ:PL	0/1:1,6:7:20:224,0,20	8	0	1	1
chr1	241500602	241500602	-	GA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	281818	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0513678	1337	26028	rs144131869	0.1574	0.1684	0.1570	0.1578	0.1631	0.1568	0.1566	0.1624	0.1621	0.0739	0.1336	0.1444	0.1123	0.1723	0.1300	0.1631	0.1482	0.1548	0.1001	0.0981	0.0989	0.1013	0.1219	0.0986	0.0981	0.1196	0.1187	0.0599	0.1539	0.0773	0.0991	0.1060	0.1609	0.1111	0.1219	0.0848	0.0593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	4847.39	14	chr1	241500602	.	T	TGA	4847.39	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.178;DP=402;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=59.93;MQRankSum=0;QD=27.7;ReadPosRankSum=-0.227;SOR=0.678	GT:AD:DP:GQ:PL	1/0:3,12:24:99:612,183,178	7	0	3	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	0/1:3,9:24:99:612,231,317	6	0	4	0
chr1	247425556	247425556	C	A	exonic	NLRP3	.	nonsynonymous SNV	NLRP3:NM_001127461:exon4:c.C2107A:p.Q703K,NLRP3:NM_001127462:exon4:c.C2107A:p.Q703K,NLRP3:NM_001243133:exon4:c.C2107A:p.Q703K,NLRP3:NM_004895:exon4:c.C2113A:p.Q705K,NLRP3:NM_183395:exon4:c.C2107A:p.Q703K,NLRP3:NM_001079821:exon5:c.C2107A:p.Q703K	CINCA syndrome, Autosomal dominant;Familial cold-induced inflammatory syndrome 1, Autosomal dominant;Muckle-Wells syndrome, Autosomal dominant	2	1361	147	12	0	171	0.0591082	.	.	.	249858	Autoinflammatory_syndrome|Focal_segmental_glomerulosclerosis|Cryopyrin_associated_periodic_syndrome|Familial_cold_autoinflammatory_syndrome_1|Familial_amyloid_nephropathy_with_urticaria_AND_deafness|Chronic_infantile_neurological,_cutaneous_and_articular_syndrome|not_specified|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MONDO:MONDO:0016168,MedGen:C2316212,Orphanet:208650|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100,Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900,Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115,Orphanet:1451|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.162	.	0.0348	0.0223642	0.0409	0.0103	0.0174	0.0023	0.0455	0.0554	0.0475	0.0364	0.0401806	6212	154602	rs35829419	0.0444	0.0444	0.0443	0.0444	0.0567	0.0441	0.0440	0.0516	0.0496	0.0093	0.0195	0.0648	0.0018	0.0485	0.0567	0.0480	0.0407	0.0374	0.0328	0.0328	0.0331	0.0325	0.0466	0.0320	0.0317	0.0452	0.0447	0.0099	0.0462	0.0235	0.0678	0.0015	0.0475	0.0510	0.0466	0.0383	0.0357	0.233	0.18956	T	0.581	0.13252	T	0.137	0.27402	B	0.022	0.19653	B	0.001058	0.00730	N	3.339880	1	0.08975	N	.	.	.	-2.37	0.88220	D	0.2	0.09135	N	0.105	0.14196	-0.7308	0.58923	T	0.119	0.41735	T	10	0.0027211607	0.00042	T	.	.	.	0.162	0.41843	.	.	.	.	0.3650717210622987	0.36421	0.593062829215	0.54674	0.258289754391	0.04689	T	0.174501	0.52374	T	-0.409931	0.01990	T	-0.323629	0.42176	T	0.00282959321631737	0.00030	T	0.688631	0.30243	T	0.09577053	0.22545	0.052836567	0.08782	0.09882642	0.23315	0.043405045	0.05393	-3.791	0.21328	T	.	.	0.077	0.07272	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.163191	0.03284	0.564	0.26450865337110768	0.01267	0.06425	0.12430	N	AEFDBCI	0.060385	0.11471	N	-1.18329923690612	0.05252	0.2389972	-1.24906822791398	0.05144	0.2444453	0.99871367089653	0.37518	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.49	-0.977	0.09757	-0.197000	0.09519	.	.	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2024:0.365:0.3221:0.1105	2.255	0.03805	889	0.27310	.;.;.;.;.;.;.;.	ZNF496	Skin_Sun_Exposed_Lower_leg	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.039778	0.040404	0.035326	0.038012	0.050000	0.017241	0.048780	0.034091	0.05	3023.43	45	chr1	247425556	.	C	A	3023.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.801;DP=659;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.32;SOR=0.578	GT:AD:DP:GQ:PL	0/1:125,111:236:99:3035,0,3380	9	0	1	0
chr2	25161179	25161179	G	C	exonic	POMC	.	nonsynonymous SNV	POMC:NM_000939:exon3:c.C706G:p.R236G,POMC:NM_001319205:exon3:c.C706G:p.R236G,POMC:NM_001035256:exon4:c.C706G:p.R236G,POMC:NM_001319204:exon4:c.C706G:p.R236G	Obesity, adrenal insufficiency, and red hair due to POMC deficiency	0	1519	3	0	0	3	0.000986518	.	.	.	28395	Obesity,_early-onset,_susceptibility_to|POMC-related_disorder|Obesity_due_to_pro-opiomelanocortin_deficiency|Inherited_obesity|not_provided	MedGen:C4016341|.|MONDO:MONDO:0012335,MedGen:C1857854,OMIM:609734,Orphanet:71526|MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.816	.	0.0030	0.00239617	0.0023	0.0009	0.0029	0	0.0002	0.0035	0.0011	0	0.0025808	399	154602	rs28932472	0.0045	0.0045	0.0046	0.0044	0.0053	0.0044	0.0044	0.0052	0.0051	0.0006	0.0032	0.0070	0	0.0002	0.0002	0.0053	0.0050	0.0001	0.0028	0.0028	0.0027	0.0029	0.0054	0.0026	0.0025	0.0045	0.0041	0.0010	0.0099	0.0054	0.0086	0	0.0002	0	0.0038	0.0038	0	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	-1.97	0.85173	D	-6.37	0.91058	D	0.983	0.99337	0.599	0.91880	D	0.721	0.90426	D	10	0.017676592	0.00379	T	.	.	.	0.816	0.94085	.	.	0.955276429607	0.95480	0.6842527917949313	0.68364	1.13119082289	0.78624	0.580391466618	0.50140	T	0.522154	0.83309	D	0.0968016	0.63945	D	0.369998	0.91073	D	0.0484975188811876	0.05232	T	0.817418	0.48050	T	0.8182313	0.85101	0.73535645	0.84359	0.83719444	0.86409	0.76440287	0.86083	-8.779	0.66263	D	0.8018337034202868	0.87844	0.844	0.79442	P	.;.;.;.;.	.;.;.;.;.	5.586763	0.92348	32	0.99880495584688278	0.95653	0.96289	0.68414	D	AEFDBHCIJ	0.888240	0.82118	D	0.856714419905877	0.89489	9.992026	0.774459729071881	0.87966	9.409108	0.999999999994341	0.74766	0.696267	0.57585	0	0.685571	0.66316	0	0.691665	0.62940	0	0.56751	0.32155	0	.	.	5.15	4.24	0.49486	6.205000	0.72079	9.558000	0.80989	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.6899:0.3101	11.826	0.51539	552	0.72024	Pro-opiomelanocortin/corticotropin, ACTH, central region|Pro-opiomelanocortin/corticotropin, ACTH, central region;Pro-opiomelanocortin/corticotropin, ACTH, central region|Pro-opiomelanocortin/corticotropin, ACTH, central region;Pro-opiomelanocortin/corticotropin, ACTH, central region|Pro-opiomelanocortin/corticotropin, ACTH, central region;Pro-opiomelanocortin/corticotropin, ACTH, central region|Pro-opiomelanocortin/corticotropin, ACTH, central region;Pro-opiomelanocortin/corticotropin, ACTH, central region	.	.	.	.	.	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	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	931.43	35	chr2	25161179	.	G	C	931.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=438;ExcessHet=0;FS=3.511;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.89;ReadPosRankSum=1.23;SOR=0.576	GT:AD:DP:GQ:PL	0/1:74,44:118:99:943,0,1704	9	0	1	0
chr2	29071203	29071203	T	C	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.A3059G:p.Q1020R	.	0	1503	19	0	0	19	0.00628099	.	.	.	190300	Retinitis_pigmentosa|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.026	.	0.0002	0.00279553	0.0086	0.0024	0.0024	0	0.0121	0.0128	0.0074	0.0010	0.0068757	1063	154602	rs200367963	0.0087	0.0087	0.0089	0.0085	0.0098	0.0086	0.0085	0.0097	0.0096	0.0018	0.0029	0.0169	0	0.0115	0.0056	0.0098	0.0074	0.0009	0.0063	0.0063	0.0066	0.0059	0.0097	0.0059	0.0058	0.0091	0.0089	0.0014	0	0.0043	0.0179	0	0.0085	0	0.0097	0.0071	0.0006	0.117	0.28271	T	0.323	0.18959	T	0.063	0.23376	B	0.018	0.18489	B	0.559511	0.11351	N	0.796203	1	0.08975	N	.	.	.	2.01	0.21291	T	-3.06	0.63090	D	0.084	0.06059	-0.9912	0.32295	T	0.041	0.17700	T	10	0.0048058033	0.00102	T	.	.	.	0.026	0.05648	.	.	0.249502417897	0.24576	0.21886280284673723	0.21802	0.0140011853721	0.01334	.	.	.	0.019667	0.15628	T	-0.567802	0.00228	T	-0.57899	0.14634	T	0.00539879757628147	0.00059	T	0.376562	0.08996	T	0.16208237	0.36261	0.17164351	0.39362	0.1437882	0.33031	0.17164351	0.39361	-3.378	0.14762	T	.	.	0.103	0.18539	B	.	.	1.436758	0.18559	13.80	0.98913200757516251	0.48418	0.42764	0.26950	N	AEFDBI	0.121755	0.23657	N	-0.644156492515505	0.17630	0.9088619	-0.611557115836324	0.19196	1.028853	0.109324984171799	0.16604	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.29	1.51	0.22094	0.539000	0.22885	0.395000	0.17934	0.609000	0.47794	0.152000	0.23684	0.953000	0.29079	0.385000	0.26447	0.1293:0.2894:0.0:0.5813	5.306	0.15116	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006552	0.005051	0.000000	0.000000	0.050000	0.000000	0.030488	0.007576	0.15	12536.4	34	chr2	29071203	.	T	C	12536.4	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.883;DP=802;ExcessHet=0;FS=3.241;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=32.14;ReadPosRankSum=1.98;SOR=0.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,101:194:99:0|1:29071203_T_C:3912,0,3526:29071203	8	1	1	0
chr2	29071204	29071204	G	T	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.C3058A:p.Q1020K	.	0	1507	15	0	0	15	0.00495213	.	.	.	190299	Retinitis_pigmentosa|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.105	.	.	0.00279553	0.0085	0.0024	0.0024	0	0.0121	0.0127	0.0074	0.0010	0.0068693	1062	154602	rs201355503	0.0087	0.0087	0.0089	0.0085	0.0098	0.0086	0.0085	0.0097	0.0096	0.0017	0.0029	0.0169	0	0.0115	0.0053	0.0098	0.0074	0.0009	0.0063	0.0063	0.0066	0.0059	0.0097	0.0059	0.0058	0.0091	0.0088	0.0014	0	0.0043	0.0179	0	0.0085	0	0.0097	0.0071	0.0006	0.148	0.24857	T	0.356	0.17166	T	0.454	0.36182	P	0.09	0.29851	B	0.559511	0.11351	N	0.796203	1	0.08975	N	.	.	.	2.0	0.21473	T	-3.06	0.63090	D	0.25	0.28264	-1.0517	0.13926	T	0.051	0.21611	T	10	0.0063916743	0.00145	T	.	.	.	0.105	0.29889	.	.	0.393316636838	0.38940	0.2500554077571631	0.24919	0.0237916299832	0.02408	.	.	.	0.034351	0.23286	T	-0.541652	0.00328	T	-0.541427	0.18156	T	0.0217380883788979	0.00880	T	0.458954	0.13262	T	0.35774997	0.57664	0.20621154	0.44825	0.30511588	0.53360	0.20621154	0.44824	-3.734	0.19821	T	.	.	0.123	0.25689	B	.	.	3.092638	0.41652	21.4	0.98464053864446577	0.41780	0.67894	0.33599	D	AEFDBI	0.114024	0.22475	N	-0.131883062482818	0.36009	2.075708	-0.0888338562462418	0.35850	2.079073	0.590696172868296	0.21644	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.29	4.38	0.52019	2.585000	0.45776	8.340000	0.76993	0.526000	0.24426	0.441000	0.26495	1.000000	0.68203	0.475000	0.28453	0.0:0.1335:0.728:0.1385	11.656	0.50578	449	0.79428	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006552	0.005051	0.000000	0.000000	0.050000	0.000000	0.030488	0.007576	0.15	12536.4	34	chr2	29071204	.	G	T	12536.4	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.082;DP=800;ExcessHet=0;FS=3.241;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=32.14;ReadPosRankSum=1.86;SOR=0.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,101:194:99:0|1:29071203_T_C:3912,0,3526:29071203	8	1	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	0/1:64,69:133:99:1820,0,1657	1	6	3	0
chr2	48713934	48713934	A	-	intronic	LHCGR;STON1-GTF2A1L	.	.	.	.	8	920	487	107	0	701	0.275876	.	.	.	45133	Gonadotropin-independent_familial_sexual_precocity|not_provided	MONDO:MONDO:0008303,MedGen:C0342549,OMIM:176410,Orphanet:3000|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1143	0.148762	.	.	.	.	.	.	.	.	0.0035252	545	154602	rs111834744	0.1024	0.0983	0.0993	0.1052	0.2237	0.1019	0.1017	0.2130	0.2087	0.1692	0.1756	0.1510	0.1562	0.1144	0.2237	0.0811	0.1200	0.1942	0.1216	0.1219	0.1175	0.1258	0.1888	0.1201	0.1195	0.1786	0.1745	0.1664	0.0209	0.1489	0.1473	0.1324	0.1139	0.2313	0.0830	0.1300	0.1888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3667.53	40	chr2	48713933	.	CA	C	3667.53	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.194;DP=489;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0.44;SOR=0.715	GT:AD:DP:GQ:PL	0/1:47,24:71:99:754,0,1684	6	0	4	0
chr2	71644058	71644058	C	T	exonic	DYSF	.	synonymous SNV	DYSF:NM_001130976:exon40:c.C4462T:p.L1488L,DYSF:NM_001130986:exon40:c.C4465T:p.L1489L,DYSF:NM_001130455:exon41:c.C4507T:p.L1503L,DYSF:NM_001130977:exon41:c.C4525T:p.L1509L,DYSF:NM_001130980:exon41:c.C4555T:p.L1519L,DYSF:NM_001130984:exon41:c.C4528T:p.L1510L,DYSF:NM_001130985:exon41:c.C4558T:p.L1520L,DYSF:NM_003494:exon41:c.C4504T:p.L1502L,DYSF:NM_001130978:exon42:c.C4567T:p.L1523L,DYSF:NM_001130979:exon42:c.C4597T:p.L1533L,DYSF:NM_001130981:exon42:c.C4618T:p.L1540L,DYSF:NM_001130982:exon42:c.C4600T:p.L1534L,DYSF:NM_001130983:exon42:c.C4570T:p.L1524L,DYSF:NM_001130987:exon42:c.C4621T:p.L1541L	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	1	1393	121	7	0	135	0.046217	.	.	.	100225	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|Qualitative_or_quantitative_defects_of_dysferlin|not_specified|Limb-girdle_muscular_dystrophy,_recessive|Miyoshi_muscular_dystrophy_1|Miyoshi_myopathy	MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0076	0.00858626	0.0107	0.0101	0.0064	0.0001	0.0046	0.0109	0.0061	0.0209	0.0081694	1263	154602	rs7573406	0.0082	0.0083	0.0078	0.0086	0.0328	0.0081	0.0081	0.0290	0.0275	0.0077	0.0069	0.0096	0	0.0035	0.0328	0.0079	0.0104	0.0170	0.0081	0.0082	0.0084	0.0078	0.0145	0.0078	0.0076	0.0118	0.0108	0.0080	0	0.0088	0.0072	0.0002	0.0023	0.0340	0.0091	0.0123	0.0145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	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	0.025706	0.020202	0.027174	0.020468	0.000000	0.017241	0.036810	0.015152	0.05	707.43	34	chr2	71644058	.	C	T	707.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.385;DP=420;ExcessHet=0;FS=0.831;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.42;ReadPosRankSum=-0.378;SOR=0.58	GT:AD:DP:GQ:PL	0/1:50,34:84:99:719,0,1242	9	0	1	0
chr2	73385903	73385903	-	GGAGGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.35_36insGGAGGA:p.E28_A29insEE,ALMS1:NM_015120:exon1:c.35_36insGGAGGA:p.E28_A29insEE	Alstrom syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	215261	not_specified|Alstrom_syndrome|not_provided|Cardiovascular_phenotype	MedGen:CN169374|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs193922695	0.0632	0.0483	0.0617	0.0645	0.1063	0.0626	0.0624	0.1033	0.1021	0.0218	0.1063	0.0554	0.0749	0.0494	0.0665	0.0566	0.0607	0.0967	0.0594	0.0601	0.0569	0.0622	0.1116	0.0584	0.0580	0.1033	0.1000	0.0227	0	0.1047	0.0698	0.0753	0.0617	0.0602	0.0672	0.0589	0.1116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	11939.9	39	chr2	73385903	.	T	TGGAGGA	11939.9	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.374;DP=431;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=32.53;ReadPosRankSum=0.623;SOR=0.746	GT:AD:DP:GQ:PL	0/1:0,21:40:99:1632,753,687	7	0	3	0
chr2	113063003	113063003	C	A	UTR3	IL36RN	NM_173170:c.*326C>A;NM_012275:c.*326C>A	.	.	Psoriasis 14, pustular, Autosomal recessive	1153	102	28	239	0	506	0.712676	.	.	.	283612	Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided|Generalized_pustular_psoriasis	MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.641694	16702	26028	rs2515402	0.6503	0.5392	0.6312	0.6662	0.7952	0.6475	0.6464	0.7882	0.7853	0.7079	0.6852	0.6657	0.7045	0.6007	0.7372	0.5959	0.6436	0.7952	0.6523	0.6524	0.6493	0.6555	0.8017	0.6489	0.6475	0.7806	0.7720	0.7070	0.7582	0.6634	0.6888	0.7075	0.6290	0.7381	0.6006	0.6879	0.8017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	333.61	3	chr2	113063003	.	C	A	333.61	.	AC=10;AF=1;AN=10;DP=19;ExcessHet=0;FS=0;MLEAC=12;MLEAF=1;MQ=60;QD=30.33;SOR=1.27	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	0	5	0	5
chr2	113063078	113063078	A	T	UTR3	IL36RN	NM_173170:c.*401A>T;NM_012275:c.*401A>T	.	.	Psoriasis 14, pustular, Autosomal recessive	1209	73	21	219	0	459	0.758678	.	.	.	282259	not_provided|Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau	MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715056	.	.	.	.	.	.	.	.	0.108032	16702	154602	rs3180234	0.6596	0.4268	0.6382	0.6777	0.8001	0.6565	0.6553	0.7925	0.7894	0.6759	0.6937	0.6753	0.7131	0.6192	0.7623	0.6046	0.6542	0.8001	0.6407	0.6407	0.6374	0.6442	0.8010	0.6373	0.6359	0.7799	0.7713	0.6662	0.7582	0.6591	0.6886	0.7087	0.6294	0.7347	0.6006	0.6796	0.8010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.6667	378.98	4	chr2	113063078	.	A	T	378.98	.	AC=8;AF=0.667;AN=12;DP=20;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.833;MQ=60;QD=27.07;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:99,12,0	2	4	0	4
chr2	113063095	113063095	A	G	UTR3	IL36RN	NM_173170:c.*418A>G;NM_012275:c.*418A>G	.	.	Psoriasis 14, pustular, Autosomal recessive	1204	76	20	222	0	464	0.753247	.	.	.	283794	Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided|Generalized_pustular_psoriasis	MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715056	.	.	.	.	.	.	.	.	0.108239	16734	154602	rs3180235	0.6666	0.4191	0.6459	0.6842	0.8049	0.6634	0.6621	0.7971	0.7939	0.7199	0.7068	0.6777	0.7170	0.6252	0.7704	0.6115	0.6626	0.8049	0.6525	0.6524	0.6495	0.6557	0.8016	0.6491	0.6477	0.7805	0.7719	0.7072	0.7599	0.6639	0.6885	0.7079	0.6290	0.7381	0.6007	0.6878	0.8016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.6	326.24	4	chr2	113063095	.	A	G	326.24	.	AC=6;AF=0.6;AN=10;DP=18;ExcessHet=0;FS=0;MLEAC=8;MLEAF=0.8;MQ=60;QD=27.19;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:99,12,0	2	3	0	5
chr2	135807120	135807122	CTC	-	intronic	LCT	.	.	.	Lactase deficiency, congenital, Autosomal recessive	0	1480	39	3	0	45	0.014975	.	.	.	281866	not_provided|Congenital_lactase_deficiency|LCT-related_disorder|Lactose_intolerance	MedGen:C3661900|MONDO:MONDO:0009115,MedGen:C0268179,OMIM:223000,Orphanet:53690|.|Human_Phenotype_Ontology:HP:0004789,MONDO:MONDO:0100345,MedGen:C0022951	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0030	0.00599042	0.0053	0.0023	0.0012	0.0009	0.0015	0.0043	0.0011	0.0184	0.0006531	17	26028	rs375300532	0.0035	0.0035	0.0029	0.0041	0.0188	0.0034	0.0034	0.0180	0.0177	0.0017	0.0016	0.0221	0.0007	0.0015	0.0111	0.0021	0.0051	0.0188	0.0035	0.0035	0.0031	0.0039	0.0232	0.0032	0.0031	0.0197	0.0184	0.0018	0	0.0020	0.0190	0.0014	0.0010	0.0102	0.0032	0.0047	0.0232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1666.39	54	chr2	135807119	.	ACTC	A	1666.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.478;DP=397;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=24.51;ReadPosRankSum=1.1;SOR=0.822	GT:AD:DP:GQ:PL	0/1:26,42:68:99:1678,0,956	9	0	1	0
chr2	135809584	135809584	C	T	exonic	LCT	.	synonymous SNV	LCT:NM_002299:exon8:c.G2763A:p.A921A	Lactase deficiency, congenital, Autosomal recessive	0	1480	39	3	0	45	0.014975	.	.	.	281882	not_provided|Congenital_lactase_deficiency|Lactose_intolerance	MedGen:C3661900|MONDO:MONDO:0009115,MedGen:C0268179,OMIM:223000,Orphanet:53690|Human_Phenotype_Ontology:HP:0004789,MONDO:MONDO:0100345,MedGen:C0022951	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0028	0.00998403	0.0066	0.0015	0.0012	0.0175	0.0015	0.0043	0.0022	0.0195	0.0060219	931	154602	rs116951780	0.0040	0.0040	0.0034	0.0046	0.0200	0.0039	0.0039	0.0192	0.0189	0.0011	0.0016	0.0221	0.0149	0.0015	0.0111	0.0021	0.0059	0.0200	0.0040	0.0040	0.0036	0.0044	0.0247	0.0037	0.0036	0.0211	0.0197	0.0013	0	0.0021	0.0190	0.0179	0.0010	0.0102	0.0032	0.0043	0.0247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	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	0.008056	0.000000	0.005435	0.000000	0.050000	0.043103	0.009146	0.015152	0.05	1654.43	34	chr2	135809584	.	C	T	1654.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.293;DP=436;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-1.703;SOR=0.673	GT:AD:DP:GQ:PL	0/1:60,64:124:99:1666,0,1508	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	0/1:24,15:48:99:266,0,388	0	1	9	0
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	939850	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.936609	0.94117	33	0.99349119721063961	0.60493	0.97623	0.75973	D	AEFBI	.	.	.	1.19148709426811	0.99469	22.96786	1.05788045534202	0.99467	22.95182	0.999998626380482	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.989765	0.98485	5.82	5.82	0.92740	5.023000	0.63858	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.870	0.92282	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	411.49	152	chr2	151680729	.	C	T	411.49	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-4.4;DP=854;ExcessHet=0.7463;FS=121.756;InbreedingCoeff=-0.178;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=0.502;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:113,34:147:99:.:.:232,0,2164:.	7	0	3	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	0/1:3,8:19:99:577,139,112	4	0	6	0
chr2	174750181	174750181	A	-	intronic	CHRNA1	.	.	.	Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 1A, slow-channel, Autosomal dominant;Myasthenic syndrome, congenital, 1B, fast-channel, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	285836	Congenital_Myasthenic_Syndrome,_Dominant/Recessive|not_provided|Autosomal_recessive_multiple_pterygium_syndrome	MedGen:CN239246|MedGen:C3661900|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1009	0.2306	0.0531	0.0740	0.0576	0.0815	0.1098	0.1662	0.0003842	10	26028	rs67309103	0.1040	0.1178	0.1022	0.1057	0.2650	0.1035	0.1033	0.2601	0.2580	0.2650	0.0637	0.0864	0.1054	0.0524	0.1415	0.0962	0.1146	0.1809	0.1411	0.1427	0.1412	0.1409	0.3022	0.1394	0.1388	0.2976	0.2958	0.3022	0.0573	0.0874	0.0715	0.0814	0.0376	0.1514	0.0761	0.1283	0.2175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	13383.8	45	chr2	174750180	.	CA	C	13383.8	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.942;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=29.87;ReadPosRankSum=1.63;SOR=1.023	GT:AD:DP:GQ:PL	0/1:3,9:49:99:1196,756,697	8	0	2	0
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	0/1:95,15:116:39:39,0,2090	4	0	6	0
chr2	178581668	178581668	G	A	exonic	TTN	.	synonymous SNV	TTN:NM_003319:exon144:c.C39405T:p.S13135S,TTN:NM_133432:exon145:c.C39780T:p.S13260S,TTN:NM_133437:exon145:c.C39981T:p.S13327S,TTN:NM_133378:exon265:c.C58896T:p.S19632S,TTN:NM_001256850:exon266:c.C61677T:p.S20559S,TTN:NM_001267550:exon316:c.C66600T:p.S22200S	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	1	1520	1	0	0	1	0.000328839	.	.	.	655277	Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Tibial_muscular_dystrophy|Cardiovascular_phenotype|not_provided|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy	MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	2.595e-05	0	0	0	0	4.674e-05	0	0	2.59e-05	4	154602	rs371324060	8.901e-06	8.893e-06	9.537e-06	8.259e-06	2.534e-05	4.97e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	2.534e-05	1.875e-05	0	8.999e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	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	2073.43	36	chr2	178581668	.	G	A	2073.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.45;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.05;SOR=0.692	GT:AD:DP:GQ:PL	0/1:85,75:160:99:2085,0,2128	9	0	1	0
chr2	178702656	178702656	T	C	exonic	TTN	.	synonymous SNV	TTN:NM_133378:exon104:c.A26499G:p.P8833P,TTN:NM_001256850:exon105:c.A29280G:p.P9760P,TTN:NM_001267550:exon107:c.A30231G:p.P10077P	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	55996	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Dilated_cardiomyopathy_1G|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Cardiomyopathy	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0030	0.00339457	0.0008	0.0086	0.0004	0	0	4.552e-05	0.0011	0	0.0007309	113	154602	rs74324101	0.0003	0.0003	0.0003	0.0003	0.0092	0.0003	0.0003	0.0084	0.0081	0.0092	0.0006	0	0	0	0.0014	2.161e-05	0.0008	1.161e-05	0.0028	0.0028	0.0029	0.0027	0.0096	0.0026	0.0025	0.0088	0.0085	0.0096	0	0.0015	0	0	0	0	5.88e-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	0.003021	0.005051	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	206.43	29	chr2	178702656	.	T	C	206.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.044;DP=269;ExcessHet=0;FS=4.465;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=0.381;SOR=1.819	GT:AD:DP:GQ:PL	0/1:14,10:24:99:218,0,393	9	0	1	0
chr2	188994709	188994709	T	-	intronic	COL3A1	.	.	.	Ehlers-Danlos syndrome, type IV, Autosomal dominant	2	167	53	4	0	61	0.15443	.	.	.	196782	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome,_type_4|not_provided	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0017314,MedGen:C0268338,OMIM:130050,Orphanet:286|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2166	.	0.3055	0.2236	0.2985	0.2936	0.2296	0.3440	0.3131	0.2426	0.0088366	230	26028	rs1300602712	0.1940	0.2215	0.1971	0.1910	0.2237	0.1933	0.1930	0.2123	0.2078	0.1050	0.1481	0.2419	0.1384	0.1439	0.2237	0.2090	0.1879	0.0986	0.1109	0.1107	0.1140	0.1077	0.1459	0.1095	0.1089	0.1435	0.1425	0.0552	0.2230	0.1183	0.1937	0.0715	0.0877	0.1857	0.1459	0.1425	0.0558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1898.74	33	chr2	188994708	.	CT	C	1898.74	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-1.058;DP=537;ExcessHet=1.5895;FS=2.631;InbreedingCoeff=-0.2554;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.678;SOR=0.545	GT:AD:DP:GQ:PL	0/1:24,31:55:99:680,0,478	6	0	4	0
chr2	231214830	231214830	G	A	splicing	ARMC9	NM_001271466:exon4:c.178-1G>A;NM_001352757:exon4:c.178-1G>A;NM_001352756:exon4:c.178-1G>A;NM_025139:exon4:c.178-1G>A;NM_001352759:exon4:c.178-1G>A;NM_001352758:exon4:c.178-1G>A;NM_001352755:exon4:c.178-1G>A;NM_001291656:exon4:c.178-1G>A;NM_001352754:exon4:c.178-1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.932	YES	959575	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	8.295e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs781417301	3.421e-06	3.42e-06	4.084e-06	2.751e-06	0.0002	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.598e-06	0	0	1.971e-05	1.97e-05	0	4.036e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427509	0.91406	D	0.376311	0.91300	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.711270	0.93173	33	0.99479123329748409	0.66795	0.97923	0.78155	D	AEFDGBCI	.	.	.	1.27559742842659	0.99955	33.71423	1.14330894470173	0.99948	33.14012	1.0	0.98316	0.163922	0.03765	0	0.156668	0.03792	0	0.137589	0.03823	0	0.117559	0.03655	0	0.989227	0.97985	5.81	5.81	0.92413	9.844000	0.98359	11.497000	0.92950	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	20.064	0.97701	946	0.12043	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	480.43	34	chr2	231214830	.	G	A	480.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.92;DP=363;ExcessHet=0;FS=2.523;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=-0.398;SOR=1.125	GT:AD:DP:GQ:PL	0/1:39,19:58:99:492,0,1002	9	0	1	0
chr2	233681881	233681881	T	G	intronic	UGT1A10;UGT1A8;UGT1A9	.	.	.	.	428	424	473	197	0	867	0.505539	.	.	.	434018	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.297724	.	.	.	.	.	.	.	.	0.0682721	10555	154602	rs7586110	0.3789	0.3761	0.3766	0.3812	0.4147	0.3780	0.3777	0.4109	0.4093	0.2677	0.2150	0.4392	0.2203	0.4509	0.3963	0.3864	0.3689	0.4147	0.3407	0.3409	0.3372	0.3444	0.4123	0.3383	0.3372	0.3972	0.3911	0.2656	0.4748	0.2715	0.4392	0.2030	0.4744	0.3639	0.3807	0.3145	0.4123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	9348.98	130	chr2	233681881	.	T	G	9348.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.043;DP=816;ExcessHet=1.0516;FS=0.549;InbreedingCoeff=-0.0101;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=0.409;SOR=0.734	GT:AD:DP:GQ:PL	0/1:75,53:128:99:1159,0,1991	3	2	5	0
chr2	233757013	233757013	T	G	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	1175	190	33	124	0	281	0.425113	.	.	YES	27327	not_provided|UGT1A8-related_condition|Gilbert_syndrome|Gilbert_syndrome,_susceptibility_to|Lucey-Driscoll_syndrome|Crigler-Najjar_syndrome,_type_II|Crigler-Najjar_syndrome_type_1|UGT1A9-related_disorder	MedGen:C3661900|.|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MedGen:C4016425|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.588059	.	.	.	.	.	.	.	.	0.483095	12574	26028	rs4124874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5551	0.5558	0.5568	0.5533	0.8203	0.5519	0.5506	0.8129	0.8099	0.8203	0.4823	0.4853	0.5378	0.3271	0.4919	0.5000	0.4377	0.5124	0.5886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	77.31	.	chr2	233757013	.	T	G	77.31	.	AC=2;AF=0.333;AN=6;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;QD=31.26;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:85,6,0	2	1	0	7
chr2	233760233	233760233	-	AT	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	27314	Crigler-Najjar_syndrome|not_specified|UGT1A1-related_disorder|not_provided|Crigler-Najjar_syndrome,_type_II|BILIRUBIN,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1|Lucey-Driscoll_syndrome|Gilbert_syndrome|Crigler-Najjar_syndrome_type_1|Irinotecan_response	MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MedGen:C1866173,OMIM:601816|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|MedGen:CN077989	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|drug_response|other	.	.	.	.	.	.	.	.	.	.	.	0.32528	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs34983651	0.3008	0.3073	0.2983	0.3034	0.3582	0.3001	0.2997	0.3546	0.3532	0.3449	0.2826	0.3392	0.1204	0.3429	0.3139	0.2993	0.3013	0.3582	0.3460	0.3472	0.3436	0.3485	0.4077	0.3435	0.3425	0.3928	0.3907	0.3979	0.4218	0.3198	0.3809	0.1263	0.4167	0.3231	0.3199	0.3187	0.4077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	853.1	25	chr2	233760233	.	C	CAT	853.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.967;DP=158;ExcessHet=0.2065;FS=0;InbreedingCoeff=0.2011;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=18.96;ReadPosRankSum=-0.233;SOR=0.571	GT:AD:DP:GQ:PL	1/1:0,13:13:39:488,39,0	6	1	3	0
chr2	240740088	240740088	G	A	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001379636:exon35:c.C3568T:p.R1190C,KIF1A:NM_001379637:exon35:c.C3643T:p.R1215C,KIF1A:NM_001379639:exon35:c.C3568T:p.R1190C,KIF1A:NM_001379640:exon35:c.C3565T:p.R1189C,KIF1A:NM_001379641:exon35:c.C3568T:p.R1190C,KIF1A:NM_001379648:exon35:c.C3643T:p.R1215C,KIF1A:NM_001379649:exon35:c.C3568T:p.R1190C,KIF1A:NM_001379650:exon35:c.C3568T:p.R1190C,KIF1A:NM_001379651:exon35:c.C3568T:p.R1190C,KIF1A:NM_001379653:exon35:c.C3568T:p.R1190C,KIF1A:NM_004321:exon35:c.C3568T:p.R1190C,KIF1A:NM_001320705:exon36:c.C3595T:p.R1199C,KIF1A:NM_001330289:exon36:c.C3595T:p.R1199C,KIF1A:NM_001330290:exon36:c.C3670T:p.R1224C,KIF1A:NM_001379632:exon36:c.C3820T:p.R1274C,KIF1A:NM_001379633:exon36:c.C3844T:p.R1282C,KIF1A:NM_001379634:exon36:c.C3670T:p.R1224C,KIF1A:NM_001379635:exon36:c.C3670T:p.R1224C,KIF1A:NM_001379638:exon36:c.C3595T:p.R1199C,KIF1A:NM_001379642:exon36:c.C3844T:p.R1282C,KIF1A:NM_001379645:exon36:c.C3844T:p.R1282C,KIF1A:NM_001379646:exon36:c.C3670T:p.R1224C,KIF1A:NM_001244008:exon37:c.C3871T:p.R1291C,KIF1A:NM_001379631:exon37:c.C3946T:p.R1316C	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	691098	not_specified|not_provided|Neuropathy,_hereditary_sensory,_type_2C|Intellectual_disability,_autosomal_dominant_9|Hereditary_spastic_paraplegia_30|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213,Orphanet:970|MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255,Orphanet:662367|MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357,Orphanet:101010|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.418	0.284465629828	7.9e-05	0.000399361	0.0004	0	0	0.0042	0	9.539e-05	0.0031	0.0003	0.0001617	25	154602	rs199998986	9.601e-05	0.0001	8.968e-05	0.0001	0.0015	8.273e-05	7.781e-05	0.0012	0.0011	9.155e-05	9.642e-05	0	0.0015	1.956e-05	0.0002	4.18e-05	0.0001	0.0002	0.0001	0.0001	6.426e-05	0.0002	0.0019	7.573e-05	6.278e-05	0.0010	0.0008	9.632e-05	0	0.0001	0	0.0019	0	0	1.47e-05	0	0.0002	0.014	0.55530	D	0.049	0.48594	D	0.999	0.77913	D	0.873	0.61978	P	0.000786	0.41772	U	0.188876	0.999877	0.50225	D	1.04	0.26193	L	-0.67	0.73205	T	-4.61	0.79571	D	0.639	0.67477	-0.3224	0.74355	T	0.330	0.69800	T	10	0.027278662	0.00876	T	0.284466	0.90347	D	0.418	0.72780	.	.	0.629592633289	0.62656	0.48745250817772223	0.48665	1.27794266167	0.82456	0.359657585621	0.19336	T	0.62244	0.88185	D	-0.278616	0.10815	T	-0.186219	0.55943	T	0.151289409942196	0.17206	T	0.977402	0.92063	D	0.19197898	0.40848	0.16768439	0.38671	0.19197898	0.40847	0.16768439	0.38670	-6.687	0.51712	T	.	.	0.082	0.23986	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.506354	0.91640	32	0.9992230062637022	0.98852	0.79787	0.39606	D	AEFDBCI	0.761754	0.69937	D	0.345426425753767	0.58498	4.022457	0.366773025040954	0.59526	4.131017	0.994677149643568	0.33747	0.67177	0.52595	0	0.541168	0.11318	0	0.702456	0.68683	0	0.562822	0.20929	0	.	.	4.28	4.28	0.50183	3.731000	0.54739	11.537000	0.93115	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:0.8259:0.1741	11.921	0.52076	994	0.00715	Kinesin-like;.;.;.;.;.;.;Kinesin-like;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1911.43	37	chr2	240740088	.	G	A	1911.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.681;DP=515;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=-0.264;SOR=0.716	GT:AD:DP:GQ:PL	0/1:107,91:198:99:1923,0,2453	9	0	1	0
chr2	240869336	240869336	G	A	exonic	AGXT	.	nonsynonymous SNV	AGXT:NM_000030:exon2:c.G332A:p.R111Q	Hyperoxaluria, primary, type 1, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	YES	200472	Primary_hyperoxaluria,_type_I|not_provided	MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.954	0.903926951278	7.7e-05	.	3.466e-05	0	0	0	0	3.094e-05	0	0.0002	2.59e-05	4	154602	rs180177203	2.201e-05	2.189e-05	2.596e-05	1.8e-05	0.0003	1.593e-05	1.363e-05	6.303e-05	4.798e-05	0	0	0	0	1.907e-05	0.0003	1.716e-05	0	0.0001	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.25	0.98048	H	-3.42	0.94348	D	-3.81	0.71882	D	0.984	0.99337	1.108	0.99852	D	0.941	0.98074	D	10	0.98729414	0.99087	D	0.903927	0.99279	D	0.954	0.99189	.	.	0.964948117445	0.96457	0.9680569701085651	0.96793	0.263199542763	0.28875	0.497315853834	0.38454	T	0.891317	0.97795	D	0.385047	0.89031	D	0.520823	0.95009	D	0.992587268352509	0.83102	D	0.956971	0.83666	D	0.92776644	0.94013	0.82952845	0.90154	0.92776644	0.94014	0.82952845	0.90154	-11.323	0.81399	D	0.8248429900178341	0.89703	0.442	0.61827	A	.	.	5.261481	0.88341	29.6	0.99955185936666069	0.99969	0.98781	0.86770	D	AEFBI	0.958616	0.97849	D	0.848130492506997	0.89002	9.795716	0.684633239185617	0.81211	7.474165	0.999999999998865	0.74766	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.12	4.12	0.47504	9.213000	0.94240	9.438000	0.80821	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.730000	0.35099	0.0:0.0:1.0:0.0	16.738	0.85311	982	0.03397	Aminotransferase class V domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	781.43	34	chr2	240869336	.	G	A	781.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.997;DP=392;ExcessHet=0;FS=2.597;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.041;SOR=0.393	GT:AD:DP:GQ:PL	0/1:34,29:63:99:793,0,1031	9	0	1	0
chr3	15521729	15521729	-	TG	upstream	COLQ	dist=23	.	.	Myasthenic syndrome, congenital, 5, Autosomal recessive	67	130	17	12	0	41	0.136213	.	.	.	293472	Congenital_Myasthenic_Syndrome,_Recessive|not_provided	MedGen:CN239337|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1179837883	0.1825	0.2084	0.1812	0.1838	0.3061	0.1819	0.1816	0.3005	0.2982	0.3061	0.2555	0.1878	0.2355	0.1166	0.2281	0.1758	0.1937	0.1911	0.2696	0.2733	0.2717	0.2674	0.3754	0.2674	0.2665	0.3703	0.3683	0.3754	0.1670	0.3074	0.2298	0.2766	0.1317	0.2705	0.2249	0.2744	0.2276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2657.88	21	chr3	15521729	.	T	TTG	2657.88	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.454;DP=312;ExcessHet=0.0135;FS=0;InbreedingCoeff=0.5231;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=26.85;ReadPosRankSum=1.41;SOR=0.767	GT:AD:DP:GQ:PL	0/1:10,16:28:99:489,0,298	6	2	2	0
chr3	42688262	42688262	G	A	exonic	KLHL40	.	nonsynonymous SNV	KLHL40:NM_152393:exon2:c.G1273A:p.G425S	Nemaline myopathy 8, autosomal recessive	420	1101	1	0	0	1	0.000453926	.	.	YES	452605	Inborn_genetic_diseases|Nemaline_myopathy_8|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014138,MedGen:C3809209,OMIM:615348,Orphanet:171430|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.093	0.263120535752	0.0008	0.000798722	0.0009	0.0002	0.0012	0.0005	0.0002	0.0013	0.0022	0.0001	0.0009702	150	154602	rs138791086	0.0012	0.0012	0.0012	0.0011	0.0046	0.0011	0.0011	0.0040	0.0038	8.961e-05	0.0013	3.826e-05	0.0046	0.0002	0.0003	0.0012	0.0007	0.0001	0.0008	0.0008	0.0008	0.0008	0.0013	0.0007	0.0006	0.0010	0.0010	0.0003	0	0.0009	0	0.0008	9.427e-05	0	0.0013	0.0028	0.0002	0.373	0.11442	T	0.635	0.07082	T	0.112	0.26290	B	0.032	0.22131	B	0.000504	0.43753	N	0.236285	0.959837	0.38148	D	2.57	0.75187	M	-0.47	0.70133	T	-2.23	0.50012	N	0.266	0.30118	-0.8002	0.55133	T	0.217	0.57915	T	10	0.01951465	0.00437	T	0.263121	0.89587	D	0.093	0.26882	.	.	0.782926529619	0.78092	0.2684683412042599	0.26759	0.0679534120877	0.07611	0.500183582306	0.38853	T	0.198985	0.55614	T	-0.458496	0.01004	T	-0.466752	0.25867	T	0.0208075538961693	0.00780	T	0.649435	0.26018	T	0.13275705	0.30903	0.11937691	0.28815	0.13275705	0.30903	0.11937691	0.28815	-5.145	0.38377	T	.	.	0.074	0.05188	B	.	.	2.479380	0.31973	18.90	0.9877332865759596	0.46002	0.93275	0.57783	D	AEFDGBI	0.501104	0.53408	D	-0.239948414452765	0.31507	1.767325	-0.126247792867109	0.34335	1.973898	0.999977584235953	0.50053	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.99	3.14	0.35196	2.879000	0.48220	3.974000	0.40849	0.586000	0.30580	0.990000	0.36992	0.999000	0.35428	0.804000	0.37906	0.0802:0.1441:0.7757:0.0	9.535	0.38383	358	0.85037	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2461.43	35	chr3	42688262	.	G	A	2461.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=520;ExcessHet=0;FS=2.422;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.676;SOR=0.536	GT:AD:DP:GQ:PL	0/1:102,99:201:99:2473,0,2420	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	0/1:11,2:13:11:11,0,215	5	0	3	2
chr3	101320316	101320316	C	G	exonic	IMPG2	.	synonymous SNV	IMPG2:NM_016247:exon1:c.G57C:p.L19L	Macular dystrophy, vitelliform, 5, Autosomal dominant;Retinitis pigmentosa 56, Autosomal recessive	4	1515	3	0	0	3	0.00098912	.	.	.	288648	not_provided|Retinitis_pigmentosa	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	0.0005	0.0002	0.0003	0	0	0.0002	0	0.0023	0.0003881	60	154602	rs188916371	0.0003	0.0003	0.0002	0.0004	0.0023	0.0003	0.0003	0.0020	0.0019	6.021e-05	0.0001	0	0	5.626e-05	0.0017	0.0002	0.0003	0.0023	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	9.706e-05	0.0005	0.0004	4.816e-05	0	6.559e-05	0	0	0	0	0.0002	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	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	0.000505	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1023.43	42	chr3	101320316	.	C	G	1023.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.811;DP=433;ExcessHet=0;FS=0.797;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.203;SOR=0.601	GT:AD:DP:GQ:PL	0/1:41,45:86:99:1035,0,958	9	0	1	0
chr3	160258644	160258644	-	A	ncRNA_intronic	TRIM59-IFT80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	212292	not_specified|Jeune_thoracic_dystrophy	MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3028	0.244409	0.2984	0.3269	0.1690	0.2153	0.4291	0.3213	0.3143	0.2482	0.0002305	6	26028	rs1460790711	0.2741	0.2825	0.2748	0.2734	0.3268	0.2733	0.2730	0.3214	0.3192	0.3268	0.1533	0.3455	0.1703	0.3775	0.2958	0.2784	0.2791	0.2180	0.3160	0.3146	0.3124	0.3197	0.3464	0.3136	0.3126	0.3416	0.3397	0.3464	0.5045	0.2019	0.3707	0.1787	0.4797	0.3134	0.3106	0.2913	0.2321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2688.25	45	chr3	160258644	.	G	GA	2688.25	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.896;DP=449;ExcessHet=1.4371;FS=3.237;InbreedingCoeff=-0.0989;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.137;SOR=0.501	GT:AD:DP:GQ:PL	0/1:23,13:36:99:241,0,539	4	1	5	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	0/1:35,25:60:99:615,0,928	4	1	5	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	0/1:62,42:104:99:1069,0,1853	6	1	3	0
chr3	193643030	193643030	G	A	exonic	OPA1	.	nonsynonymous SNV	OPA1:NM_130831:exon10:c.G1013A:p.G338D,OPA1:NM_015560:exon11:c.G1121A:p.G374D,OPA1:NM_130832:exon11:c.G1067A:p.G356D,OPA1:NM_130833:exon11:c.G1124A:p.G375D,OPA1:NM_001354663:exon12:c.G752A:p.G251D,OPA1:NM_001354664:exon12:c.G749A:p.G250D,OPA1:NM_130834:exon12:c.G1175A:p.G392D,OPA1:NM_130835:exon12:c.G1178A:p.G393D,OPA1:NM_130836:exon12:c.G1232A:p.G411D,OPA1:NM_130837:exon13:c.G1286A:p.G429D	Behr syndrome, Autosomal recessive;Optic atrophy 1, Autosomal dominant;Optic atrophy plus syndrome, Autosomal dominant	43	1476	3	0	0	3	0.00101523	.	.	.	888567	not_specified|Inborn_genetic_diseases|not_provided|Autosomal_dominant_optic_atrophy_classic_form	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500,Orphanet:98673	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.895	0.629151544098	7.7e-05	.	4.203e-05	0	8.74e-05	0	0	3.064e-05	0	0.0001	3.23e-05	5	154602	rs146003075	3.011e-05	3.01e-05	2.179e-05	3.852e-05	0.0005	2.283e-05	2.033e-05	0.0001	7.544e-05	0	0.0001	3.827e-05	0	0	0.0005	1.17e-05	0.0002	0.0001	1.972e-05	1.97e-05	2.57e-05	1.346e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.005	0.65419	D	0.011	0.64786	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.57	0.75187	M	-3.86	0.95891	D	-6.35	0.90976	D	0.768	0.91852	1.066	0.98481	D	0.932	0.97747	D	10	0.9226336	0.91615	D	0.629152	0.96810	D	0.895	0.97022	.	.	0.84301341986	0.84151	0.7696190488440139	0.76910	1.6492091948	0.89517	0.898623526096	0.96286	D	0.706701	0.98989	D	0.206018	0.74456	D	0.294823	0.87954	D	0.719375789165497	0.41667	D	0.967253	0.89126	D	0.74595124	0.80634	0.82695144	0.89986	0.74595124	0.80635	0.82695144	0.89987	-11.024	0.82884	D	0.4165608229464354	0.50598	0.214	0.53679	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.415712	0.90628	31	0.99837555852513593	0.91886	0.99357	0.94965	D	AEFBI	0.930203	0.91714	D	0.953256455108821	0.94113	12.512	0.912170017999131	0.96082	14.28175	0.999999999986262	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	9.588000	0.97390	11.844000	0.97886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	16.585	0.84577	958	0.09170	Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase domain;.;.;Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase domain;Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase domain;.;Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase domain;Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase domain;.;.;Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	288.43	37	chr3	193643030	.	G	A	288.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.682;DP=302;ExcessHet=0;FS=5.076;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.394;SOR=0.081	GT:AD:DP:GQ:PL	0/1:11,11:22:99:300,0,352	9	0	1	0
chr3	195868341	195868341	C	T	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.G2008A:p.V670M,TNK2:NM_001382271:exon12:c.G2008A:p.V670M,TNK2:NM_005781:exon12:c.G1912A:p.V638M,TNK2:NM_001010938:exon13:c.G2029A:p.V677M,TNK2:NM_001382272:exon13:c.G2029A:p.V677M,TNK2:NM_001382273:exon13:c.G1957A:p.V653M,TNK2:NM_001382274:exon13:c.G1957A:p.V653M,TNK2:NM_001382275:exon13:c.G2053A:p.V685M	.	422	1076	20	4	0	28	0.012844	.	.	.	94418	Parkinson_disease|Autosomal_recessive_infantile_epilepsy|TNK2-related_disorder|not_provided|Infantile_epilepsy	MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600,Orphanet:319705|MedGen:CN183915|.|MedGen:C3661900|MedGen:CN228296	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.176	.	0.0006	0.00259585	0.0026	0.0006	0.0005	0.0002	0.0002	0.0011	0	0.0131	0.0020957	324	154602	rs201407161	0.0018	0.0018	0.0015	0.0021	0.0127	0.0017	0.0017	0.0120	0.0118	0.0004	0.0004	0.0042	5.051e-05	0	0.0047	0.0011	0.0019	0.0127	0.0012	0.0012	0.0010	0.0015	0.0158	0.0011	0.0010	0.0129	0.0119	0.0003	0	0.0005	0.0038	0.0004	0	0.0068	0.0011	0	0.0158	0.008	0.91255	D	0.073	0.69154	T	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999986	0.58761	D	1.83	0.48079	L	0.88	0.46028	T	-1.2	0.39503	N	0.629	0.69125	-0.7690	0.56912	T	0.196	0.55056	T	10	0.0081579685	0.00185	T	.	.	.	0.176	0.44373	.	.	0.854392572695	0.85299	0.3547871407071696	0.35392	0.0339664126179	0.03563	0.844016313553	0.88707	D	0.085562	0.49683	T	-0.351641	0.04624	T	-0.266854	0.48137	T	0.0236500075346051	0.01102	T	0.982402	0.94055	D	0.3188963	0.54547	0.3603234	0.61476	0.3188963	0.54547	0.3603234	0.61475	-9.791	0.72650	D	.	.	0.606	0.71047	P	.;.;.;.	.;.;.;.	4.594960	0.72715	25.9	0.99885676477360807	0.96049	0.98998	0.89743	D	AEFDBI	0.879804	0.80600	D	0.642321751471934	0.75873	6.383469	0.649361750741026	0.78564	6.901514	0.999999999993842	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.53	5.53	0.82530	4.628000	0.60981	5.947000	0.51581	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.627000	0.32078	0.0:1.0:0.0:0.0	18.017	0.89169	884	0.28482	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007056	0.000000	0.001359	0.008772	0.050000	0.025862	0.003067	0.018939	0.05	1942.43	73	chr3	195868341	.	C	T	1942.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.22;DP=550;ExcessHet=0;FS=1.345;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-2.531;SOR=0.825	GT:AD:DP:GQ:PL	0/1:65,75:140:99:1954,0,1387	9	0	1	0
chr4	670239	670239	-	T	UTR3	PDE6B	NM_000283:c.*132_*133insT;NM_001145291:c.*132_*133insT;NM_001379247:c.*132_*133insT;NM_001379246:c.*132_*133insT;NM_001145292:c.*132_*133insT;NM_001350154:c.*25_*26insT;NM_001350155:c.*25_*26insT	.	.	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299220	Congenital_Stationary_Night_Blindness,_Dominant|not_provided|Retinitis_Pigmentosa,_Recessive	MedGen:CN239263|MedGen:CN517202|MedGen:CN239466	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0355	0.0536	0.0324	0.0244	0.0022	0.0236	0.0125	0.0772	0.0001537	4	26028	rs775283243	0.2040	0.2154	0.2059	0.2023	0.2177	0.2032	0.2028	0.2121	0.2117	0.2177	0.1879	0.2013	0.1159	0.1601	0.1603	0.2131	0.2013	0.1690	0.1202	0.1373	0.1255	0.1144	0.1627	0.1186	0.1180	0.1591	0.1577	0.1627	0.0849	0.0823	0.1257	0.0125	0.0550	0.1120	0.1261	0.1089	0.0417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	126.28	7	chr4	670239	.	A	AT	126.28	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.19;DP=154;ExcessHet=1.5895;FS=1.763;InbreedingCoeff=-0.2489;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.68;ReadPosRankSum=0;SOR=0.35	GT:AD:DP:GQ:PL	0/1:5,5:10:61:69,0,61	8	0	2	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	1/1:0,264:264:99:8895,793,0	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	0/1:112,89:201:99:2266,0,2861	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	1/1:3,206:209:99:6561,561,0	0	5	5	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	0/1:120,113:233:99:2952,0,3061	0	9	1	0
chr4	82426558	82426558	C	G	exonic	HNRNPDL	.	nonsynonymous SNV	HNRNPDL:NM_031372:exon6:c.G1097C:p.G366A	Muscular dystrophy, limb-girdle, type 1G, Autosomal dominant	438	1083	1	0	0	1	0.000461467	.	.	.	691625	Autosomal_dominant_limb-girdle_muscular_dystrophy_type_1G	MONDO:MONDO:0012193,MedGen:C1836765,OMIM:609115,Orphanet:55596	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.304	0.0509305838735	.	0.000199681	0.0004	0	0	0.0037	0	1.499e-05	0	0.0013	0.0003752	58	154602	rs200123403	0.0002	0.0002	0.0001	0.0002	0.0035	0.0002	0.0002	0.0030	0.0028	0	0	0	0.0035	1.877e-05	0	9.9e-06	0.0002	0.0011	0.0001	0.0001	3.855e-05	0.0002	0.0025	7.573e-05	6.278e-05	0.0015	0.0012	0	0	0	0	0.0025	0	0	0	0	0.0010	0.08	0.33585	T	0.016	0.60972	D	0.093	0.25333	B	0.012	0.16012	B	0.000012	0.62929	D	0.111132	0.821797	0.81001	D	1.48	0.37141	L	-2.29	0.87591	D	-1.67	0.39887	N	0.457	0.49420	-0.3093	0.74725	T	0.473	0.79779	T	10	0.013842881	0.00292	T	0.050931	0.64450	D	0.304	0.62510	.	.	0.794866231817	0.79295	0.782699162966229	0.78220	0.958394088486	0.72909	0.637438774109	0.58200	T	0.123599	0.44808	T	-0.292344	0.09402	T	-0.195129	0.55108	T	0.038196925423996	0.03366	T	0.787321	0.42620	T	0.19485313	0.41251	0.1964123	0.43370	0.19485313	0.41251	0.1964123	0.43369	-6.671	0.51592	T	.	.	0.150	0.33110	B	.;.;.;.;.	.;.;.;.;.	3.825547	0.55270	23.6	0.97479853157685437	0.34183	0.90454	0.51643	D	AEFBCI	0.607451	0.59741	D	0.0663192455911651	0.44897	2.755468	0.271067350157503	0.53856	3.552716	0.999999999836489	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.74	5.74	0.90070	4.565000	0.60552	5.969000	0.51963	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8641:0.1359:0.0	15.731	0.77571	907	0.22727	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	640.43	34	chr4	82426558	.	C	G	640.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.622;DP=384;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=0.808;SOR=0.679	GT:AD:DP:GQ:PL	0/1:42,29:71:99:652,0,1126	9	0	1	0
chr4	153703504	153703504	T	C	exonic	TLR2	.	synonymous SNV	TLR2:NM_001318789:exon3:c.T597C:p.N199N,TLR2:NM_001318790:exon3:c.T597C:p.N199N,TLR2:NM_001318791:exon3:c.T597C:p.N199N,TLR2:NM_001318793:exon3:c.T597C:p.N199N,TLR2:NM_001318795:exon3:c.T597C:p.N199N,TLR2:NM_001318796:exon3:c.T597C:p.N199N,TLR2:NM_003264:exon3:c.T597C:p.N199N,TLR2:NM_001318787:exon4:c.T597C:p.N199N	.	433	374	514	201	0	916	0.550481	.	.	.	3197327	TLR2-related_disorder|COVID-19–associated_multisystem_inflammatory_syndrome_in_adults	.|MONDO:MONDO:0100319,MedGen:CN305503	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4947	0.414736	0.4113	0.6113	0.3166	0.2941	0.3755	0.4353	0.3833	0.3322	0.410745	63502	154602	rs3804099	0.4315	0.4315	0.4342	0.4288	0.6172	0.4306	0.4302	0.6102	0.6073	0.6172	0.3330	0.4315	0.3037	0.3765	0.4539	0.4448	0.4302	0.3318	0.4694	0.4697	0.4773	0.4612	0.6193	0.4665	0.4653	0.6129	0.6103	0.6193	0.3282	0.3800	0.4441	0.2870	0.3791	0.4592	0.4393	0.4748	0.3266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.447130	0.444444	0.479620	0.485380	0.650000	0.500000	0.384146	0.409091	0.45	15882.0	149	chr4	153703504	.	T	C	15882.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.259;DP=1208;ExcessHet=5.1594;FS=0.53;InbreedingCoeff=-0.4141;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=0.758;SOR=0.638	GT:AD:DP:GQ:PL	0/1:73,74:147:99:1619,0,1820	2	1	7	0
chr4	153704257	153704257	T	C	exonic	TLR2	.	synonymous SNV	TLR2:NM_001318789:exon3:c.T1350C:p.S450S,TLR2:NM_001318790:exon3:c.T1350C:p.S450S,TLR2:NM_001318791:exon3:c.T1350C:p.S450S,TLR2:NM_001318793:exon3:c.T1350C:p.S450S,TLR2:NM_001318795:exon3:c.T1350C:p.S450S,TLR2:NM_001318796:exon3:c.T1350C:p.S450S,TLR2:NM_003264:exon3:c.T1350C:p.S450S,TLR2:NM_001318787:exon4:c.T1350C:p.S450S	.	422	830	239	31	0	301	0.153493	.	.	.	3196679	TLR2-related_disorder|COVID-19–associated_multisystem_inflammatory_syndrome_in_adults	.|MONDO:MONDO:0100319,MedGen:CN305503	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0638	0.108427	0.0914	0.0510	0.0657	0.2642	0.0363	0.0696	0.0727	0.1555	0.0886664	13708	154602	rs3804100	0.0817	0.0817	0.0794	0.0840	0.2792	0.0813	0.0811	0.2749	0.2731	0.0504	0.0667	0.0582	0.2792	0.0355	0.1245	0.0729	0.0862	0.1536	0.0710	0.0711	0.0690	0.0731	0.2543	0.0699	0.0695	0.2429	0.2383	0.0531	0.0110	0.0704	0.0646	0.2543	0.0333	0.1224	0.0691	0.0833	0.1486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.106244	0.050505	0.091033	0.093567	0.200000	0.129310	0.128049	0.151515	0.15	5698.45	167	chr4	153704257	.	T	C	5698.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.74;DP=848;ExcessHet=0.7463;FS=5.935;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.524;SOR=0.598	GT:AD:DP:GQ:PL	0/1:92,79:171:99:1938,0,2225	7	0	3	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	0/1:106,118:224:99:3145,0,2673	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	1/0:0,4:15:50:468,238,216	3	0	7	0
chr5	13922143	13922143	G	A	exonic	DNAH5	.	synonymous SNV	DNAH5:NM_001369:exon5:c.C624T:p.N208N	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1504	14	1	3	19	0.00529101	.	.	.	173569	not_provided|not_specified|Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_3	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0024	0.00179712	0.0025	0.0006	0.0070	0	0.0008	0.0031	0.0055	0.0002	0.0025614	396	154602	rs139640247	0.0023	0.0023	0.0023	0.0023	0.0070	0.0022	0.0022	0.0064	0.0061	0.0003	0.0070	0.0023	0	0.0009	0.0050	0.0024	0.0030	0.0004	0.0023	0.0023	0.0021	0.0024	0.0067	0.0021	0.0020	0.0056	0.0052	0.0005	0.0264	0.0067	0.0026	0	0.0007	0.0102	0.0025	0.0066	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	0.004532	0.005051	0.004076	0.000000	0.050000	0.000000	0.009146	0.003788	0.05	1277.43	33	chr5	13922143	.	G	A	1277.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.383;DP=407;ExcessHet=0;FS=5.005;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.523;SOR=0.352	GT:AD:DP:GQ:PL	0/1:48,54:102:99:1289,0,1069	9	0	1	0
chr5	38528850	38528853	ACAC	-	intronic	LIFR	.	.	.	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	18	95	41	30	42	143	0.347079	.	.	.	304338	Stuve-Wiedemann_syndrome|not_provided|not_specified	MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0911	0.0372	0.0443	0.0489	0.0192	0.1161	0.0842	0.0855	0.0001617	25	154602	rs762238623	0.0461	0.0603	0.0450	0.0472	0.0799	0.0457	0.0456	0.0721	0.0691	0.0315	0.0263	0.1433	0.0287	0.0396	0.0799	0.0450	0.0515	0.0496	0.0145	0.0146	0.0151	0.0140	0.0281	0.0140	0.0138	0.0267	0.0262	0.0281	0	0.0095	0.0479	0.0074	0.0073	0.0263	0.0077	0.0180	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4157.25	43	chr5	38528849	.	GACAC	G	4157.25	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.671;DP=398;ExcessHet=0.3701;FS=0;InbreedingCoeff=0.167;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=19.52;ReadPosRankSum=-0.189;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:2,9:35:99:.:.:1039,673,732:.	6	0	4	0
chr5	38528850	38528851	AC	-	intronic	LIFR	.	.	.	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303937	not_provided|Stuve-Wiedemann_syndrome|Stüve-Wiedemann_syndrome_1	MedGen:C3661900|MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MONDO:MONDO:0800043,MedGen:C5676888,OMIM:601559,Orphanet:3206	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3454	0.2017	0.3103	0.2720	0.2788	0.3796	0.3684	0.3566	0.0001423	22	154602	rs34759137	0.2992	0.3291	0.2912	0.3066	0.3471	0.2982	0.2977	0.3382	0.3366	0.1605	0.2828	0.4123	0.2437	0.3501	0.3471	0.2931	0.3145	0.3421	0.3263	0.3064	0.3244	0.3283	0.4408	0.3237	0.3227	0.4237	0.4168	0.1328	0.3872	0.3252	0.5692	0.3125	0.3579	0.4286	0.4208	0.3804	0.4408	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4157.25	43	chr5	38528849	.	GAC	G	4157.25	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.671;DP=398;ExcessHet=0.3701;FS=0;InbreedingCoeff=0.167;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=19.52;ReadPosRankSum=-0.189;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,24:35:99:.:.:1039,233,185:.	4	0	6	0
chr5	83539905	83539905	T	G	exonic	VCAN	.	nonsynonymous SNV	VCAN:NM_001164097:exon7:c.T3941G:p.F1314C,VCAN:NM_004385:exon8:c.T6902G:p.F2301C	Wagner syndrome 1, Autosomal dominant	2	612	644	253	11	1161	0.484414	.	.	.	195961	Wagner_syndrome|not_provided|Vitreoretinopathy	Human_Phenotype_Ontology:HP:0030673,MONDO:MONDO:0007740,MedGen:C1840452,OMIM:143200,Orphanet:898|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.058	0.0108346477128	.	0.00179712	0.0021	0.0003	0.0020	0	0.0014	0.0026	0.0033	0.0026	0.0021086	326	154602	rs160278	0.0030	0.0030	0.0029	0.0030	0.0040	0.0029	0.0029	0.0033	0.0032	0.0005	0.0025	0.0001	0	0.0013	0.0040	0.0034	0.0025	0.0026	0.0019	0.0019	0.0021	0.0018	0.0030	0.0017	0.0017	0.0026	0.0025	0.0004	0	0.0027	0	0	0.0012	0	0.0030	0.0038	0.0019	0.029	0.54683	D	0.176	0.29843	T	0.291	0.35204	B	0.078	0.34892	B	0.701319	0.06204	N	1.149720	1	0.08975	P	0	0.06538	N	2.32	0.16640	T	-1.11	0.33598	N	0.166	0.17553	-0.9994	0.30087	T	0.032	0.13548	T	9	0.0036144853	0.00066	T	0.010835	0.27810	T	0.058	0.16647	.	.	0.0675242888579	0.06100	0.10170312442462896	0.10101	0.115592916537	0.13044	0.219845503569	0.01301	T	0.200992	0.55874	T	-0.600371	0.00145	T	-0.639159	0.09731	T	0.00866660003978706	0.00106	T	0.266673	0.04389	T	0.0574799	0.11443	0.039536245	0.04069	0.041540567	0.06135	0.054416746	0.09354	-7.822	0.59851	D	.	.	0.116	0.23325	B	.;.	.;.	0.264295	0.06425	2.895	0.4997288410233327	0.04303	0.19142	0.20544	N	AEFGBI	0.195332	0.32238	N	-1.03105710688041	0.07964	0.3718024	-1.02007583571907	0.09344	0.4643434	0.99997746167723	0.50053	0.732398	0.92422	0	0.624146	0.53433	0	0.743671	0.96076	0	0.59522	0.37078	0	.	.	6.07	3.61	0.40494	0.451000	0.21492	0.131000	0.15046	-2.029000	0.00430	0.009000	0.18154	0.000000	0.08366	0.011000	0.09372	0.4935:0.1278:0.0:0.3787	6.622	0.22004	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	19828.4	33	chr5	83539905	.	T	G	19828.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.45;DP=1293;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.0101;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=0.896;SOR=0.693	GT:AD:DP:GQ:PL	0/1:89,87:176:99:2259,0,2311	9	0	1	0
chr5	90694338	90694338	C	T	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon33:c.C7582T:p.P2528S	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1483	38	1	0	40	0.0133067	.	.	.	55542	Meniere_disease|Usher_syndrome_type_2C|not_provided|not_specified	MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000|MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	.	0.0028	0.00399361	0.0043	0.0005	0.0017	0	0.0008	0.0039	0.0011	0.0141	0.0039909	617	154602	rs201733037	0.0037	0.0037	0.0033	0.0040	0.0156	0.0036	0.0036	0.0149	0.0146	0.0003	0.0024	0.0004	2.519e-05	0.0010	0.0104	0.0032	0.0036	0.0156	0.0027	0.0027	0.0025	0.0030	0.0166	0.0025	0.0024	0.0136	0.0126	0.0004	0	0.0021	0	0	0.0011	0	0.0039	0.0033	0.0166	0.111	0.29029	T	0.144	0.33109	T	0.507	0.37264	P	0.184	0.35999	B	0.000000	0.84330	D	0.046699	0.986846	0.40495	D	.	.	.	1.31	0.35405	T	-2.08	0.47514	N	0.2	0.22098	-1.0927	0.05097	T	0.070	0.28445	T	10	0.0103443265	0.00231	T	.	.	.	0.096	0.27654	.	.	0.641703553165	0.63874	0.5525428449244084	0.55180	0.127368391803	0.14354	0.447906136513	0.31658	T	0.096222	0.39781	T	-0.409726	0.01996	T	-0.348996	0.39319	T	0.0122455829645071	0.00197	T	0.916108	0.70062	D	0.14991482	0.34154	0.1691465	0.38927	0.17034227	0.37603	0.17411672	0.39783	-6.526	0.50487	T	.	.	0.194	0.41526	B	.;.;.	.;.;.	2.444560	0.31468	18.75	0.99330543755661027	0.59738	0.89735	0.50392	D	AEFGBI	0.448496	0.50370	N	0.190834199367653	0.50758	3.26293	0.349605618999404	0.58483	4.019118	0.993710333582082	0.33326	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	2.796000	0.47562	4.405000	0.43261	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1424:0.8576:0.0:0.0	15.0	0.71121	605	0.67457	.;.;Na-Ca exchanger/integrin-beta4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.000000	0.008152	0.005848	0.000000	0.008621	0.006098	0.022727	0.05	1968.43	81	chr5	90694338	.	C	T	1968.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.373;DP=636;ExcessHet=0;FS=7.056;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=1.22;SOR=1.203	GT:AD:DP:GQ:PL	0/1:82,73:155:99:1980,0,2274	9	0	1	0
chr5	112839514	112839514	T	A	exonic	APC	.	nonsynonymous SNV	APC:NM_001127511:exon14:c.T3866A:p.I1289K,APC:NM_001354897:exon15:c.T3950A:p.I1317K,APC:NM_001354899:exon15:c.T3836A:p.I1279K,APC:NM_001354901:exon15:c.T3743A:p.I1248K,APC:NM_001354902:exon15:c.T3647A:p.I1216K,APC:NM_001354905:exon15:c.T3440A:p.I1147K,APC:NM_000038:exon16:c.T3920A:p.I1307K,APC:NM_001354895:exon16:c.T3920A:p.I1307K,APC:NM_001354898:exon16:c.T3845A:p.I1282K,APC:NM_001354900:exon16:c.T3797A:p.I1266K,APC:NM_001354903:exon16:c.T3617A:p.I1206K,APC:NM_001354904:exon16:c.T3542A:p.I1181K,APC:NM_001127510:exon17:c.T3920A:p.I1307K,APC:NM_001354896:exon17:c.T3974A:p.I1325K,APC:NM_001354906:exon17:c.T3071A:p.I1024K	Adenoma, periampullary, somatic (3);Adenomatous polyposis coli, Autosomal dominant;Brain tumor-polyposis syndrome 2, Autosomal dominant;Colorectal cancer, somatic;Desmoid disease, hereditary, Autosomal dominant;Gardner syndrome, Autosomal dominant;Gastric cancer, somatic;Hepatoblastoma, somatic	1	1508	12	1	0	14	0.00462046	.	.	YES	15861	Familial_colorectal_cancer|Familial_multiple_polyposis_syndrome|Colorectal_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|Familial_adenomatous_polyposis_1|Colorectal_cancer,_susceptibility_to|.|Breast_cancer,_susceptibility_to|Breast_carcinoma|Diffuse_midline_glioma,_H3_K27-altered|not_provided|Carcinoma_of_colon|APC-Associated_Polyposis_Disorders	MONDO:MONDO:0023113,MedGen:CN280943|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100,Orphanet:733|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1858438|.|MedGen:C3469522|Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MedGen:C5669877|MedGen:C3661900|MONDO:MONDO:0002032,MedGen:C0699790|MedGen:CN239210	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|association|risk_factor	.	.	.	.	.	.	.	.	0.233	0.132984092285	0.0011	.	0.0017	0	0.0009	0	0	0.0027	0.0033	0.0009	0.0001811	28	154602	rs1801155	0.0012	0.0012	0.0012	0.0013	0.0220	0.0012	0.0012	0.0189	0.0177	0.0002	0.0006	0.0370	0	0	0.0220	0.0004	0.0033	0.0005	0.0013	0.0013	0.0014	0.0011	0.0008	0.0011	0.0011	0.0005	0.0004	4.816e-05	0	0.0006	0.0354	0	0	0.0136	0.0006	0.0028	0.0008	0.086	0.32610	T	0.694	0.05844	T	0.012	0.16265	B	0.006	0.12133	B	0.106984	0.19590	N	0.581060	0.985209	0.40251	D	1.1	0.28011	L	-2.58	0.89757	D	-0.08	0.08187	N	0.212	0.26957	-0.5369	0.67281	T	0.426	0.76969	T	9	0.007214457	0.00164	T	0.132984	0.81534	D	0.233	0.53499	.	.	0.877573215991	0.87637	0.6444917115310903	0.64384	.	.	0.386195063591	0.23132	T	0.445146	0.78828	T	-0.273232	0.11399	T	-0.205789	0.54097	T	0.0072739377223775	0.00083	T	0.60444	0.22695	T	0.07446869	0.16713	0.09694298	0.23055	0.0767068	0.17363	0.11784467	0.28446	-2.243	0.04254	T	0.0948030854518334	0.06384	0.141	0.30997	B	.;.	.;.	1.181042	0.15714	12.05	0.83511330178036025	0.14766	0.93968	0.59717	D	AEDBCI	0.341022	0.43764	N	-0.294488063035768	0.29361	1.627	-0.105413343103916	0.35171	2.031666	0.0587628207607881	0.15138	0.706548	0.73137	0	0.546412	0.12157	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.73	4.53	0.55009	0.887000	0.27891	2.950000	0.35708	0.665000	0.62972	0.061000	0.21800	1.000000	0.68203	0.876000	0.41813	0.0:0.0723:0.1457:0.782	7.377	0.26007	610	0.67008	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.020645	0.025253	0.014946	0.055556	0.000000	0.060345	0.003049	0.000000	0.05	1100.43	98	chr5	112839514	.	T	A	1100.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.08;DP=703;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.251;SOR=0.745	GT:AD:DP:GQ:PL	0/1:43,40:83:99:1112,0,1147	9	0	1	0
chr5	128319012	128319012	T	A	intronic	FBN2	.	.	.	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	0	0.048	.	368279	Congenital_contractural_arachnodactyly|not_specified|not_provided	MONDO:MONDO:0007363,MedGen:C0220668,OMIM:121050,Orphanet:115|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0002	0.0009	0.0003	0	0	9.262e-05	0	0	0.0001164	18	154602	rs528062851	0.0001	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0.0002	7.718e-05	7.601e-05	0	0.0002	0.0001	0.0001	7.01e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0003	0.0002	0.0006	0.0005	0.0008	0	0.0003	0	0.0002	0	0	0.0002	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	293.43	40	chr5	128319012	.	T	A	293.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.3;DP=358;ExcessHet=0;FS=6.333;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.24;ReadPosRankSum=-0.026;SOR=1.778	GT:AD:DP:GQ:PL	0/1:38,18:56:99:305,0,942	9	0	1	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	0/1:38,54:92:99:1362,0,817	1	1	8	0
chr5	148994601	148994604	TGGT	-	UTR3	SH3TC2	NM_024577:c.*10110_*10107delACCA	.	.	Charcot-Marie-Tooth disease, type 4C, Autosomal recessive;Mononeuropathy of the median nerve, mild, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	297904	Charcot-Marie-Tooth_disease_type_4|not_provided|Mononeuropathy_of_the_Median_Nerve	MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MedGen:C3661900|MedGen:C3150597	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003381	88	26028	rs72253703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4483	0.4501	0.4446	0.4524	0.6184	0.4454	0.4442	0.5995	0.5919	0.2520	0.5679	0.4997	0.5045	0.6184	0.6181	0.4930	0.5058	0.4646	0.5100	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	87.11	.	chr5	148994600	.	ATGGT	A	87.11	.	AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=3;MLEAF=1;MQ=60;QD=31.04;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	0	1	0	9
chr5	149980428	149980428	C	T	exonic	SLC26A2	.	nonsynonymous SNV	SLC26A2:NM_000112:exon3:c.C835T:p.R279W	Achondrogenesis Ib, Autosomal recessive;Atelosteogenesis II, Autosomal recessive;De la Chapelle dysplasia, Autosomal recessive;Diastrophic dysplasia, Autosomal recessive;Diastrophic dysplasia, broad bone-platyspondylic variant, Autosomal recessive;Epiphyseal dysplasia, multiple, 4, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	YES	19128	Inborn_genetic_diseases|3MC_syndrome_2|Sulfate_transporter-related_osteochondrodysplasia|Diastrophic_dysplasia|Atelosteogenesis_type_II|Multiple_epiphyseal_dysplasia_type_4|Achondrogenesis,_type_IB|not_provided|Connective_tissue_disorder|SLC26A2-related_disorder	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009927,MedGen:C0796279,OMIM:265050,Orphanet:293843,Orphanet:2998|MedGen:CN120497|MONDO:MONDO:0009107,MedGen:C0220726,OMIM:222600,Orphanet:628|MONDO:MONDO:0009727,MedGen:C1850554,OMIM:256050,Orphanet:56304|MONDO:MONDO:0009189,MedGen:C1847593,OMIM:226900,Orphanet:93307|MONDO:MONDO:0010966,MedGen:C0265274,OMIM:600972,Orphanet:932,Orphanet:93298|MedGen:C3661900|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN239404	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.917	0.319024439216	0.0012	0.00139776	0.0008	0.0002	0.0005	0	0.0002	0.0013	0	6.058e-05	0.0010543	163	154602	rs104893915	0.0015	0.0015	0.0015	0.0014	0.0017	0.0014	0.0014	0.0017	0.0016	0.0002	0.0011	0.0021	2.519e-05	0.0002	0.0002	0.0017	0.0012	3.478e-05	0.0011	0.0011	0.0010	0.0011	0.0026	0.0009	0.0009	0.0019	0.0017	0.0002	0	0.0026	0.0029	0	0.0002	0	0.0015	0.0019	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	A	3.515	0.92918	H	-3.31	0.93835	D	-7.43	0.94843	D	0.897	0.89689	1.074	0.98695	D	0.924	0.97476	D	9	0.5513889	0.64275	D	0.319024	0.91417	D	0.917	0.97852	.	.	0.99485298098	0.99480	0.8936150543626734	0.89331	0.328214677008	0.34941	0.608687281609	0.54130	T	0.880827	0.97501	D	0.173707	0.71463	D	0.471193	0.94020	D	0.48882645368576	0.32221	T	0.966603	0.87805	D	0.96013147	0.97293	0.94549376	0.98121	0.95597315	0.96872	0.9510324	0.98462	-12.298	0.86272	D	0.8209181077385214	0.89393	0.378	0.58322	A	.	.	5.103656	0.85284	28.6	0.99903402979359701	0.97502	0.87833	0.47510	D	AEFBI	0.669480	0.63690	D	0.779539363280535	0.84809	8.392989	0.689766706484121	0.81603	7.565086	0.999999973246893	0.74766	0.706298	0.61202	0	0.667123	0.63270	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	3.216000	0.50878	6.022000	0.52807	0.549000	0.26987	0.996000	0.39380	1.000000	0.68203	0.942000	0.48361	0.0:1.0:0.0:0.0	18.611	0.91239	780	0.47616	SLC26A/SulP transporter domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2641.43	39	chr5	149980428	.	C	T	2641.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=525;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=1.36;SOR=0.693	GT:AD:DP:GQ:PL	0/1:98,98:196:99:2653,0,2452	9	0	1	0
chr5	177093242	177093242	G	A	exonic	FGFR4	.	nonsynonymous SNV	FGFR4:NM_001354984:exon9:c.G1162A:p.G388R,FGFR4:NM_002011:exon9:c.G1162A:p.G388R,FGFR4:NM_213647:exon9:c.G1162A:p.G388R	.	415	588	404	115	0	634	0.350276	.	.	.	31365	Cancer_progression_and_tumor_cell_motility|See_cases|FGFR4-related_disorder|not_specified	MedGen:C4016099|.|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	.	0.2423	0.299521	0.3210	0.1323	0.4337	0.4495	0.3358	0.3029	0.3112	0.3580	0.309718	47883	154602	rs351855	0.3062	0.3062	0.3051	0.3073	0.4369	0.3054	0.3051	0.4315	0.4292	0.1286	0.4070	0.3161	0.4369	0.3292	0.2908	0.2980	0.3088	0.3500	0.2682	0.2685	0.2646	0.2721	0.4490	0.2660	0.2651	0.4337	0.4275	0.1329	0.2719	0.3301	0.3207	0.4490	0.3254	0.2245	0.3048	0.2718	0.3663	0.12	0.27904	T	0.358	0.17064	T	0.998	0.73220	D	0.7	0.54153	P	0.005687	0.32589	N	0.316526	0.0177303	0.81001	P	1.5	0.37844	L	-1.67	0.82806	D	-0.16	0.09460	N	0.469	0.50508	-0.8840	0.49440	T	0.000	0.00011	T	9	0.0041104257	0.00081	T	.	.	.	0.519	0.79522	0.255	0.19533	.	.	0.7522868110974598	0.75175	0.827512574282	0.67481	0.476968705654	0.35640	T	0.259171	0.63041	T	-0.237093	0.15723	T	0.0304758	0.72308	D	0.0179416488997758	0.00520	T	0.631737	0.24648	T	0.10127284	0.23920	0.10703784	0.25763	0.10127284	0.23920	0.1078294	0.25965	-4.362	0.29037	T	.	.	0.313	0.60805	B	.;.	.;.	4.760676	0.76968	26.6	0.99879957222399041	0.95653	0.97395	0.74477	D	AEFDGBCI	0.850981	0.76783	D	0.164708132140378	0.49509	3.150608	0.211651071616305	0.50492	3.240753	0.999999535481989	0.74766	0.695654	0.57023	0	0.659912	0.62753	0	0.723109	0.80598	0	0.550183	0.17644	0	.	.	4.29	4.29	0.50359	6.850000	0.75217	6.632000	0.56155	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0906:0.0:0.9094:0.0	11.212	0.48035	835	0.38313	.;.	FGFR4|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|RGS14|PRELID1|FGFR4|RGS14|FGFR4|RGS14|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|UIMC1|RGS14|FGFR4|FGFR4|PRELID1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood	.	.	rs351855	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.283988	0.252525	0.250000	0.336257	0.400000	0.275862	0.240854	0.363636	0.35	10584.9	92	chr5	177093242	.	G	A	10584.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=2.77;DP=678;ExcessHet=0.0952;FS=1.219;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=22.38;ReadPosRankSum=-1.087;SOR=0.826	GT:AD:DP:GQ:PL	1/1:0,112:112:99:3745,336,0	5	2	3	0
chr6	3225487	3225487	C	G	exonic	TUBB2B	.	nonsynonymous SNV	TUBB2B:NM_178012:exon4:c.G602C:p.C201S	Polymicrogyria, symmetric or asymmetric, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	YES	168565	Inborn_genetic_diseases|not_specified|TUBB2B-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.275	0.0613303524451	.	.	7.863e-05	0.0001	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs201922441	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	8.964e-05	0.0001	0.0008	7.559e-05	9.375e-05	0.0002	0.0002	0.0003	6.958e-05	0.0004	0.0007	0.0005	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	0.0001	0	0.0003	0.0009	0.0002	0.0002	0	0.0006	0	0.0002	.	.	.	0.017	0.60337	D	0.001	0.07471	B	0.67	0.53116	P	0.002628	0.36208	N	0.241597	1	0.81001	D	3.39	0.91563	M	-0.41	0.69413	T	-7.5	0.95045	D	0.275	0.31140	0.082	0.83851	D	0.549	0.83470	D	10	0.2984606	0.47403	T	0.06133	0.68297	D	0.275	0.59130	0.414	0.45216	0.678660702044	0.67593	0.9700526684229877	0.96993	.	.	0.352989375591	0.18361	T	0.450998	0.79190	T	-0.211677	0.19143	T	-0.277408	0.47068	T	0.367475257719389	0.27700	T	0.451355	0.12777	T	0.849223	0.87278	0.8629339	0.92380	0.849223	0.87280	0.8629339	0.92380	-8.592	0.65036	D	0.5069341803226962	0.58124	0.326	0.54954	B	.	.	1.051836	0.14328	10.91	0.96260038485795019	0.29212	0.94036	0.59919	D	AEFGI	0.647943	0.62294	D	0.160005011352321	0.49285	3.130755	0.177182060528303	0.48600	3.073711	0.999999723471481	0.74766	0.732398	0.92422	0	0.693144	0.66847	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.17	4.27	0.50009	0.973000	0.29020	-4.760000	0.01999	-0.849000	0.02733	1.000000	0.71638	0.000000	0.08366	0.764000	0.36293	0.0:0.8609:0.1391:0.0	15.507	0.75482	843	0.36859	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1076.43	42	chr6	3225487	.	C	G	1076.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.699;DP=541;ExcessHet=0;FS=0.573;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=45.74;MQRankSum=-8.595;QD=5.61;ReadPosRankSum=3.4;SOR=0.732	GT:AD:DP:GQ:PL	0/1:132,60:192:99:1088,0,3412	9	0	1	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	0/1:169,180:349:99:4878,0,4394	0	6	4	0
chr6	26090951	26090951	C	G	exonic	HFE	.	nonsynonymous SNV	HFE:NM_000410:exon2:c.C187G:p.H63D,HFE:NM_001300749:exon2:c.C187G:p.H63D,HFE:NM_001384164:exon2:c.C187G:p.H63D,HFE:NM_139003:exon2:c.C187G:p.H63D,HFE:NM_139004:exon2:c.C187G:p.H63D,HFE:NM_139006:exon2:c.C187G:p.H63D,HFE:NM_139009:exon2:c.C118G:p.H40D	Hemochromatosis, Autosomal recessive	2	1194	302	24	0	350	0.127831	.	.	YES	15049	Familial_porphyria_cutanea_tarda|Hemochromatosis_type_1|TRANSFERRIN_SERUM_LEVEL_QUANTITATIVE_TRAIT_LOCUS_2|Variegate_porphyria|Microvascular_complications_of_diabetes,_susceptibility_to,_7|Alzheimer_disease|See_cases|Cystic_fibrosis|not_provided|Cardiomyopathy|Bronze_diabetes|Hereditary_hemochromatosis|not_specified	MONDO:MONDO:0008296,MedGen:C0268323,OMIM:176100,Orphanet:101330,Orphanet:443062|MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:139498,Orphanet:465508|MedGen:C3280096,OMIM:614193|MONDO:MONDO:0008297,MedGen:C0162532,OMIM:176200,Orphanet:79473|MONDO:MONDO:0012971,MedGen:C2673520,OMIM:612635|Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020|.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C0018995|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.315	.	0.1107	0.0730831	0.1066	0.0290	0.0959	0.0365	0.1031	0.1368	0.1300	0.0779	0.109171	16878	154602	rs1799945	0.1351	0.1352	0.1361	0.1341	0.1501	0.1346	0.1344	0.1495	0.1493	0.0276	0.1031	0.1163	0.0312	0.1058	0.1222	0.1501	0.1248	0.0795	0.1015	0.1017	0.1038	0.0991	0.1503	0.1002	0.0996	0.1479	0.1469	0.0296	0.0724	0.1099	0.1208	0.0269	0.0959	0.1054	0.1503	0.1297	0.0773	0.016	0.51853	D	0.146	0.40426	T	0.147	0.64070	B	0.083	0.62698	B	0.346540	0.13882	N	0.680049	1	0.08975	P	1.79	0.46772	L	-2.42	0.88611	D	-1.23	0.45769	N	0.299	0.37301	0.103	0.84222	D	0.631	0.87050	D	9	0.0015847087	0.00018	T	.	.	.	0.315	0.63694	.	.	.	.	0.9919645876196251	0.99192	0.986908435057	0.73940	0.511884570122	0.40485	T	0.131905	0.46168	T	-0.287491	0.09890	T	-0.0676057	0.65796	T	0.012003537063212	0.00189	T	0.564244	0.19889	T	0.44828805	0.63933	0.3678599	0.62087	0.5796515	0.71590	0.30211145	0.56242	-3.758	0.33991	T	0.5987737628714522	0.66574	0.333	0.67715	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.087160	0.41550	21.4	0.98505846847621126	0.42276	0.07898	0.13886	N	AEFDBI	0.078262	0.15787	N	-0.213524220581138	0.32577	1.838779	-0.257839665235987	0.29501	1.653376	0.989988003865806	0.31999	0.623552	0.39893	0	0.588066	0.40923	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	5.3	3.51	0.39297	1.868000	0.39146	3.701000	0.39526	0.599000	0.40250	0.744000	0.29069	1.000000	0.68203	0.993000	0.69303	0.175:0.7358:0.0:0.0892	6.685	0.22327	500	0.76024	.;.;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;.;.;MHC class I-like antigen recognition-like	U91328.19|HFE|BTN2A3P|SLC17A1|SLC17A3|GUSBP2|HFE|HFE|HIST1H3E|HIST1H3E|HIST1H3E|HIST1H3E|HIST1H3E|HIST1H3E|HFE|HFE|HIST1H3E|HFE|HFE|HIST1H3E|SLC17A3|HFE|RP11-457M11.5|HIST1H3E|HFE|HIST1H3E|HFE|HFE|HFE|HFE|HFE|HIST1H3E|TRIM38|HFE|HIST1H3E|HIST1H3E	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood	HFE	Cells_Cultured_fibroblasts	rs1799945	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.119839	0.181818	0.100543	0.166667	0.000000	0.155172	0.121951	0.079545	0.1	3507.14	35	chr6	26090951	.	C	G	3507.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.18;DP=559;ExcessHet=0.2348;FS=1.991;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=1.48;SOR=0.584	GT:AD:DP:GQ:PL	0/1:71,63:134:99:1540,0,1790	8	0	2	0
chr6	32039081	32039081	C	A	UTR5	CYP21A2	NM_001368143:c.-126C>A;NM_001368144:c.-126C>A	.	.	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	9	182	648	678	5	2009	0.846284	.	.	YES	193439	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|not_specified|not_provided	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	.	0.6293	0.650759	0.7060	0.7281	0.7932	0.7161	0.6224	0.7014	0.6834	0.6705	0.588071	90917	154602	rs6467	0.5950	0.5925	0.5939	0.5962	0.7333	0.5940	0.5935	0.7265	0.7237	0.6439	0.7333	0.6468	0.6576	0.4707	0.6835	0.5882	0.6013	0.6165	0.6088	0.6089	0.6127	0.6048	0.7113	0.6055	0.6042	0.7001	0.6955	0.6364	0.6394	0.7113	0.6359	0.6316	0.4363	0.6130	0.5918	0.6460	0.5973	0.313	0.13879	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-0.3	0.67874	T	0.4	0.03463	N	.	.	-1.0318	0.19873	T	0.093	0.35444	T	5	1.7294652e-06	0.00003	T	.	.	.	0.034	0.08419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.636234	0.00088	T	-0.542863	0.18016	T	0.00180369962629931	0.00018	T	0.226077	0.02982	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05535	B	.	.	0.164705	0.05545	2.006	0.43740471587862012	0.03314	0.00179	0.01050	N	AEFBI	0.087333	0.17709	N	-1.19446011224149	0.05083	0.2309094	-1.36986281538789	0.03577	0.1671443	1.13245368839307E-4	0.05269	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	3.06	-0.591	0.11090	-0.233000	0.09056	.	.	-0.440000	0.05175	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1987:0.5349:0.1383:0.1281	3.239	0.06373	923	0.18507	.	TCF19|C4A|CYP21A2|HLA-DRB9|HLA-DRB5|C4A|CYP21A1P|TNXA|HLA-DRB5|TNXA|CFB|MICB|C6orf48|CFB|C4A|CYP21A1P|HLA-DRB5|MICB|C4A|C4A|HLA-DRB9|HLA-DRB5|HLA-DOB|HLA-DMB|MICB|DDAH2|C4A|C4B|PSMB9|HLA-DRB5|HLA-DRB5|C4A|HLA-DRB5|PSORS1C1|MICB|LY6G6C|C4A|HLA-DRB5|C4A|C4A|HLA-DRB5|HLA-DRB5|MICB|TNXA|HLA-DRB5|MICB|C4A|HLA-DRB5|C4A|CYP21A1P|HLA-DRB5|C4A|TNXA|CYP21A2|HLA-DRB5|C6orf48|C4A|C4B|HLA-DRB5|MICB|MSH5|C6orf48|C4A|C4B|HLA-DRB5|C4A|TNXA|TAP1|HCG22|MICB|C4A|CYP21A1P|HLA-DRB9|HLA-DRB5|HLA-DMA|C4A|C4A|C4B|HLA-DRB5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|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|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	DXO|HLA-DRB5|HLA-DRB6|HLA-DRB1|VARS|VARS|C6orf15|CDSN|DXO|HLA-DQA1|DXO|CYP21A1P|CYP21A2	Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Cerebellum|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis	rs6467	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	.	.	.	.	.	.	.	.	0.55	13777.0	58	chr6	32039081	.	C	A	13777.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=1.09;DP=700;ExcessHet=5.1594;FS=2.742;InbreedingCoeff=-0.4141;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=21.13;ReadPosRankSum=1.29;SOR=0.532	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,79:79:99:.:.:2481,237,0:.	1	2	7	0
chr6	42963890	42963893	TTTA	-	UTR3	PEX6	NM_001316313:c.*445_*442delTAAA;NM_000287:c.*445_*442delTAAA	.	.	Heimler syndrome 2, Autosomal recessive;Peroxisome biogenesis disorder 4A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 4B, Autosomal recessive	639	398	139	346	0	831	0.510756	.	.	.	300174	not_provided|PEX6_POLYMORPHISM|not_specified|Peroxisome_biogenesis_disorder_1A_(Zellweger)	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.647364	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs144286892	0.5727	0.5907	0.5681	0.5768	0.9184	0.5710	0.5703	0.9056	0.9003	0.9184	0.5473	0.5051	0.3599	0.5005	0.6168	0.5761	0.5928	0.6450	0.6587	0.6629	0.6658	0.6513	0.9162	0.6553	0.6538	0.9083	0.9051	0.9162	0.6826	0.5830	0.5087	0.3234	0.5061	0.5810	0.5796	0.6463	0.6385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	1861.73	5	chr6	42963889	.	GTTTA	G	1861.73	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.674;DP=69;ExcessHet=0;FS=0;InbreedingCoeff=0.6781;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=31.18;ReadPosRankSum=-1.383;SOR=2.049	GT:AD:DP:GQ:PL	1/1:0,11:11:33:495,33,0	3	6	1	0
chr6	45422694	45422714	CAGCAGCAGCAGCAACAGCAG	-	exonic	RUNX2	.	nonframeshift deletion	RUNX2:NM_001278478:exon1:c.118_138del:p.Q51_Q57del,RUNX2:NM_001369405:exon1:c.118_138del:p.Q51_Q57del,RUNX2:NM_001015051:exon3:c.160_180del:p.Q65_Q71del,RUNX2:NM_001024630:exon3:c.160_180del:p.Q65_Q71del	Cleidocranial dysplasia, Autosomal dominant;Cleidocranial dysplasia, forme fruste, dental anomalies only, Autosomal dominant;Cleidocranial dysplasia, forme fruste, with brachydactyly, Autosomal dominant;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, Autosomal dominant	1	1502	4	0	15	19	0.00132979	.	.	.	193463	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0004	0.0013	0.0012	0.0006	0.0018	0.0012	0.0004	0.0003074	8	26028	rs1159091308	0.0014	0.0014	0.0013	0.0014	0.0015	0.0013	0.0013	0.0015	0.0015	0.0006	0.0007	0.0001	0.0009	0.0015	0.0011	0.0015	0.0017	0.0004	0.0016	0.0016	0.0018	0.0013	0.0026	0.0014	0.0013	0.0022	0.0021	0.0010	0	0.0007	0	0.0004	0.0007	0	0.0026	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	777.39	35	chr6	45422693	.	ACAGCAGCAGCAGCAACAGCAG	A	777.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.31;DP=433;ExcessHet=0;FS=0.91;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-1.048;SOR=0.818	GT:AD:DP:GQ:PL	0/1:53,24:77:99:789,0,2014	9	0	1	0
chr6	116616930	116616930	G	T	exonic	RSPH4A	.	nonsynonymous SNV	RSPH4A:NM_001010892:exon1:c.G307T:p.D103Y,RSPH4A:NM_001161664:exon1:c.G307T:p.D103Y	Ciliary dyskinesia, primary, 11	3	1517	2	0	0	2	0.000658762	.	.	.	686789	Primary_ciliary_dyskinesia|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.122	0.0172361108497	0.0008	0.000599042	0.0002	0.0027	8.64e-05	0	0	0	0	0	0.000207	32	154602	rs139745647	6.43e-05	6.43e-05	7.078e-05	5.775e-05	0.0023	5.361e-05	4.976e-05	0.0019	0.0018	0.0023	8.944e-05	0	0	0	0.0003	8.993e-07	0.0001	0	0.0006	0.0006	0.0008	0.0004	0.0023	0.0005	0.0005	0.0019	0.0018	0.0023	0	0	0	0	0	0	0	0.0009	0	0.003	0.72154	D	0.009	0.70582	D	0.997	0.70673	D	0.875	0.62107	P	0.334923	0.04153	N	1.497030	1	0.08975	N	1.525	0.38595	L	-0.48	0.70249	T	-2.25	0.50992	N	0.292	0.41459	-0.8567	0.51498	T	0.236	0.60270	T	10	0.007859677	0.00178	T	0.017236	0.38857	T	0.122	0.33800	.	.	0.497871611283	0.49422	0.40138530547445717	0.40053	0.432958136732	0.43468	0.369365483522	0.20742	T	0.011831	0.10494	T	-0.318898	0.06988	T	-0.237328	0.51059	T	0.107166061277331	0.13127	T	0.763824	0.40231	T	0.10768593	0.25463	0.195532	0.43235	0.10768593	0.25463	0.195532	0.43234	-6.124	0.47898	T	.	.	0.108	0.34754	B	.;.;.	.;.;.	2.145164	0.27317	17.42	0.8585670367996967	0.16156	0.11593	0.16736	N	AEFDBHCI	0.046830	0.07819	N	-0.34965440587093	0.27285	1.495743	-0.470639215112336	0.22967	1.250127	0.999999926313458	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	5.24	3.39	0.37919	0.899000	0.28049	3.187000	0.36685	0.676000	0.76740	0.548000	0.27330	0.999000	0.35428	0.012000	0.09680	0.2171:0.0:0.7829:0.0	6.782	0.22835	475	0.77788	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1723.43	34	chr6	116616930	.	G	T	1723.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=465;ExcessHet=0;FS=5.112;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.822;SOR=1.101	GT:AD:DP:GQ:PL	0/1:76,66:142:99:1735,0,1861	9	0	1	0
chr6	131847856	131847856	-	GT	intronic	ENPP1	.	.	.	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	.	.	.	.	.	.	.	.	.	306046	Arterial_calcification,_generalized,_of_infancy,_1|not_provided|Hypophosphatemic_Rickets,_Recessive|not_specified	MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MedGen:C3661900|MedGen:CN239452|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0099124	258	26028	rs879243445	0.1164	0.1420	0.1109	0.1218	0.2260	0.1159	0.1156	0.2219	0.2202	0.0541	0.1701	0.1677	0.2260	0.1618	0.1174	0.1025	0.1337	0.1540	0.2005	0.2032	0.1967	0.2045	0.3235	0.1985	0.1977	0.3101	0.3047	0.0963	0.1496	0.2623	0.2420	0.3235	0.2116	0.2176	0.2296	0.2147	0.2345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1937.08	19	chr6	131847856	.	G	GGT	1937.08	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.067;DP=332;ExcessHet=15.1594;FS=4.66;InbreedingCoeff=-0.7711;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.176;SOR=1.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,13:16:38:.:.:294,0,38:.	6	1	3	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	0/1:24,2:30:1:53,0,1026	3	1	6	0
chr6	152399777	152399777	G	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon48:c.C7097A:p.T2366N,SYNE1:NM_182961:exon48:c.C7076A:p.T2359N	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	266020	not_provided|Inborn_genetic_diseases|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.100	0.00760018042742	0.0002	.	0.0001	0	0.0002	0	0	0.0002	0.0011	0.0002	0.0001229	19	154602	rs142747430	0.0001	0.0001	0.0001	0.0002	0.0088	0.0001	0.0001	0.0069	0.0062	2.987e-05	0.0002	7.652e-05	0	0	0.0088	9.443e-05	0.0001	0.0002	0.0002	0.0002	8.994e-05	0.0003	0.0006	0.0001	0.0001	0.0003	0.0002	0	0	0.0006	0	0	0	0.0068	0.0002	0.0009	0	0.063	0.36709	T	0.006	0.70582	D	0.907	0.50062	P	0.478	0.47030	P	0.020366	0.27054	N	0.315023	0.999282	0.46548	D	2.535	0.73915	M	1.33	0.35031	T	-2.54	0.55025	D	0.671	0.67908	-1.1354	0.01540	T	0.070	0.28675	T	10	0.3051511	0.48034	T	0.008	0.20166	T	0.100	0.28662	.	.	0.545869088564	0.54241	0.4366843502356348	0.43585	0.247225316815	0.27269	0.65043091774	0.60047	T	0.634238	0.88703	D	-0.309711	0.07773	T	-0.385095	0.35126	T	0.129531408373129	0.15338	T	0.892511	0.62902	D	0.20593356	0.42750	0.2313777	0.48267	0.20593356	0.42750	0.2313777	0.48266	-7.61	0.58381	D	.	.	0.212	0.44042	B	.;.;.	.;.;.	3.217692	0.43831	21.8	0.93957290805129356	0.24023	0.98204	0.80511	D	AEFBIJ	0.901980	0.84932	D	0.505849931100383	0.67434	5.081264	0.556523022088004	0.71851	5.718466	0.999999999938205	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.06	5.16	0.70563	7.524000	0.80796	6.410000	0.55593	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.782000	0.36987	0.0:0.0:0.8704:0.1296	16.772	0.85400	867	0.32089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.005435	0.020468	0.000000	0.008621	0.006098	0.000000	0.05	1418.43	42	chr6	152399777	.	G	T	1418.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.46;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=0.543;SOR=0.676	GT:AD:DP:GQ:PL	0/1:68,65:133:99:1430,0,1572	9	0	1	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	0/1:54,31:85:99:886,0,1508	1	3	6	0
chr6	170561964	170561964	G	A	exonic	TBP	.	synonymous SNV	TBP:NM_001172085:exon2:c.G168A:p.Q56Q,TBP:NM_003194:exon3:c.G228A:p.Q76Q	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	136006	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0538	0.0989	0.0432	0.0847	0.0282	0.0395	0.0472	0.0948	0.0001537	4	26028	rs112083427	0.2067	0.2951	0.1908	0.2228	0.4566	0.2057	0.2053	0.4473	0.4435	0.2151	0.4566	0.3745	0.4431	0.4300	0.2950	0.1554	0.2683	0.3748	0.2313	0.2572	0.2287	0.2342	0.3402	0.2291	0.2282	0.3316	0.3280	0.1263	0.1041	0.3402	0.2648	0.2368	0.3166	0.3025	0.2555	0.2464	0.2883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.222904	0.295699	0.183924	0.233918	0.250000	0.155172	0.208861	0.189394	0.55	14892.7	98	chr6	170561964	.	G	A	14892.7	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.521;DP=1587;ExcessHet=1.5895;FS=1.983;InbreedingCoeff=-0.25;MLEAC=11;MLEAF=0.55;MQ=59.98;MQRankSum=0;QD=17.24;ReadPosRankSum=3.16;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,51:95:99:1|0:170561949_GCAA_G:1629,0,1330:170561949	1	2	7	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|1:0,116:116:99:1|1:21867834_G_GT:5131,349,0:21867834	1	6	3	0
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	1/1:3,18:21:3:408,3,0	1	4	4	1
chr7	56019599	56019599	C	-	splicing	PSPH	NM_001370504:exon5:c.275+1G>-;NM_004577:exon5:c.275+1G>-;NM_001370519:exon6:c.275+1G>-;NM_001370508:exon7:c.275+1G>-;NM_001370507:exon6:c.275+1G>-;NM_001370503:exon5:c.275+1G>-;NM_001370506:exon6:c.275+1G>-;NM_001370505:exon6:c.275+1G>-;NM_001370521:exon7:c.275+1G>-;NM_001370520:exon7:c.275+1G>-;NM_001370522:exon6:c.275+1G>-;NM_001370511:exon6:c.275+1G>-;NM_001370510:exon4:c.275+1G>-;NM_001370509:exon4:c.275+1G>-;NM_001370518:exon8:c.275+1G>-;NM_001370517:exon7:c.275+1G>-;NM_001370516:exon6:c.275+1G>-;NM_001370515:exon6:c.275+1G>-;NM_001370514:exon5:c.275+1G>-;NM_001370513:exon6:c.275+1G>-;NM_001370512:exon5:c.275+1G>-	.	.	Phosphoserine phosphatase deficiency, Autosomal recessive	0	1113	409	0	0	409	0.155218	.	.	.	389820	not_provided|Neurometabolic_disorder_due_to_serine_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0018162,MedGen:C5680148,Orphanet:35705|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0049	0.0173	0.0010	0.0043	0.0025	0.0014	0.0045	0.0154	0.0112571	293	26028	rs139106189	0.0280	0.1150	0.0264	0.0296	0.2882	0.0277	0.0276	0.2824	0.2801	0.2458	0.0506	0.0260	0.2882	0.0782	0.0707	0.0123	0.0428	0.0570	0.2421	0.2770	0.2385	0.2459	0.4694	0.2399	0.2390	0.4634	0.4610	0.4694	0.0600	0.2217	0.1153	0.4012	0.1785	0.1468	0.1173	0.2195	0.2924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1084.41	31	chr7	56019598	.	AC	A	1084.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.725;DP=286;ExcessHet=0.7463;FS=1.794;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=59.9;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.113;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,6:25:99:0|1:56019585_C_A:195,0,780:56019585	7	0	3	0
chr7	87431398	87431398	A	G	intronic	ABCB4	.	.	.	Cholestasis, intrahepatic, of pregnancy, 3, Autosomal recessive, Autosomal dominant;Cholestasis, progressive familial intrahepatic 3, Autosomal recessive;Gallbladder disease 1, Autosomal recessive, Autosomal dominant	0	1508	14	0	0	14	0.00462046	0.0349	0.214	.	252954	not_provided|ABCB4-related_disorder|Progressive_familial_intrahepatic_cholestasis_type_3|Cholestasis,_intrahepatic,_of_pregnancy,_3|not_specified	MedGen:C3661900|.|MONDO:MONDO:0011214,MedGen:C1865643,OMIM:602347,Orphanet:79305|MONDO:MONDO:0013995,MedGen:C3554241,OMIM:614972,Orphanet:69665|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0020	0.00119808	0.0022	0.0002	0.0002	0.0001	0.0021	0.0031	0.0011	0.0027	0.0022703	351	154602	rs8187798	0.0028	0.0028	0.0027	0.0029	0.0031	0.0027	0.0027	0.0029	0.0028	0.0002	0.0001	0.0097	5.04e-05	0.0027	0.0014	0.0030	0.0023	0.0031	0.0018	0.0018	0.0018	0.0018	0.0031	0.0016	0.0016	0.0025	0.0024	0.0004	0.0022	0.0002	0.0098	0.0002	0.0008	0	0.0029	0.0005	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1526.43	35	chr7	87431398	.	A	G	1526.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.996;DP=456;ExcessHet=0;FS=3.113;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.337;SOR=1.009	GT:AD:DP:GQ:PL	0/1:77,68:145:99:1538,0,2009	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	1/0:2,30:47:99:.:.:1026,344,433:.	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	1/1:0,56:56:99:2454,167,0	1	9	0	0
chr7	106017935	106017935	C	T	exonic	CDHR3	.	nonsynonymous SNV	CDHR3:NM_001301161:exon11:c.C1252T:p.L418F,CDHR3:NM_152750:exon12:c.C1516T:p.L506F	.	428	1081	13	0	0	13	0.00597701	.	.	.	1284223	Susceptibility_to_nonsyndromic_otitis_media|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.408	.	0.0045	0.00359425	0.0062	0.0021	0.0071	0	0.0032	0.0088	0.0129	0.0016	0.0045666	706	154602	rs76067797	0.0049	0.0049	0.0049	0.0049	0.0177	0.0048	0.0047	0.0149	0.0139	0.0019	0.0050	0.0066	7.56e-05	0.0031	0.0177	0.0053	0.0056	0.0022	0.0042	0.0042	0.0044	0.0039	0.0061	0.0039	0.0038	0.0057	0.0055	0.0014	0	0.0044	0.0046	0.0002	0.0040	0.0204	0.0061	0.0090	0.0008	0.044	0.44029	D	0.051	0.47828	T	0.884	0.48618	P	0.622	0.51475	P	0.273709	0.03788	N	1.539750	1	0.08975	N	1.7	0.43825	L	-1.66	0.82715	D	-1.04	0.27876	N	0.071	0.04426	-0.5679	0.66099	T	0.431	0.77284	T	10	0.004099518	0.00080	T	.	.	.	0.408	0.72022	.	.	0.624018827985	0.62096	0.08811006681072454	0.08744	0.0395402123316	0.04217	0.210277408361	0.00823	T	0.003737	0.13282	T	-0.421169	0.01681	T	-0.375284	0.36272	T	0.0159610453110415	0.00379	T	0.508249	0.16760	T	0.0897766	0.20988	0.082048506	0.18695	0.0897766	0.20988	0.082048506	0.18694	-5.089	0.37791	T	.	.	0.073	0.05756	B	.;.	.;.	1.581865	0.20241	14.66	0.99604673751152728	0.74397	0.07323	0.13344	N	AEFDBHCIJ	0.063896	0.12377	N	-0.332726579874717	0.27912	1.535229	-0.515309838379762	0.21738	1.177336	0.999999985873122	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.48	-1.88	0.07294	-0.149000	0.10189	0.256000	0.16486	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.969000	0.54022	0.3165:0.3288:0.2086:0.1462	1.712	0.02718	925	0.17918	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020141	0.020202	0.020380	0.035088	0.000000	0.025862	0.015244	0.011364	0.05	1903.43	36	chr7	106017935	.	C	T	1903.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=477;ExcessHet=0;FS=1.279;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.005;SOR=0.848	GT:AD:DP:GQ:PL	0/1:86,75:161:99:1915,0,2148	9	0	1	0
chr7	107674151	107674151	T	C	intronic	SLC26A4	.	.	.	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	52726	Autosomal_recessive_nonsyndromic_hearing_loss_4|not_specified|Pendred_syndrome|not_provided	MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636|MedGen:CN169374|MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0042	0.00658946	0.0013	0.0133	0.0006	0	0	8.992e-05	0.0011	0	0.0012613	195	154602	rs77553387	0.0005	0.0005	0.0006	0.0004	0.0162	0.0005	0.0004	0.0150	0.0146	0.0162	0.0006	0	0	0	0.0017	4.692e-05	0.0012	1.161e-05	0.0042	0.0043	0.0043	0.0042	0.0147	0.0040	0.0039	0.0137	0.0134	0.0147	0	0.0013	0	0	0	0.0068	4.41e-05	0.0038	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	539.43	37	chr7	107674151	.	T	C	539.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.21;DP=292;ExcessHet=0;FS=3.84;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.4;ReadPosRankSum=0.361;SOR=1.609	GT:AD:DP:GQ:PL	0/1:13,18:31:99:551,0,306	9	0	1	0
chr7	113878379	113878379	C	A	exonic	PPP1R3A	.	nonsynonymous SNV	PPP1R3A:NM_002711:exon4:c.G2713T:p.D905Y	Insulin resistance, severe, digenic, Autosomal dominant	11	895	492	124	0	740	0.29249	.	.	.	23745	Type_2_diabetes_mellitus|not_provided|PPP1R3A-related_disorder|Insulin_resistance,_susceptibility_to	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|.|MedGen:C1852091	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.081	.	0.1353	0.308706	0.2191	0.1986	0.2675	0.6952	0.2100	0.1107	0.2252	0.3903	0.206175	31875	154602	rs1799999	0.1416	0.1416	0.1346	0.1487	0.6879	0.1411	0.1409	0.6811	0.6783	0.1968	0.2570	0.2156	0.6879	0.1937	0.1652	0.0908	0.1697	0.3887	0.1744	0.1748	0.1615	0.1879	0.6706	0.1726	0.1719	0.6519	0.6443	0.1934	0.1220	0.2144	0.2066	0.6706	0.2038	0.1429	0.0950	0.1795	0.3984	0.0	0.91255	D	0.014	0.62352	D	0.976	0.58310	D	0.72	0.54860	P	0.024511	0.26249	N	0.367148	0.836062	0.28695	P	1.83	0.48079	L	2.05	0.20664	T	-2.39	0.52612	N	0.15	0.15328	-0.9976	0.30590	T	0.000	0.00011	T	9	8.817586e-06	0.00003	T	.	.	.	0.081	0.23632	.	.	.	.	0.3683814514852102	0.36752	0.306500050531	0.32949	0.278542757034	0.07290	T	0.186598	0.53994	T	-0.528206	0.00393	T	-0.387688	0.34823	T	0.0438705692398417	0.04397	T	0.716128	0.32863	T	0.20416406	0.42517	0.2524535	0.50875	0.20416406	0.42517	0.2524535	0.50874	-4.861	0.35294	T	.	.	0.137	0.29968	B	.	.	3.069077	0.41247	21.3	0.99319784506066688	0.59355	0.95612	0.65420	D	AEFI	0.303249	0.41127	N	0.499889304589376	0.67083	5.034699	0.49068893142535	0.67370	5.075107	0.0140741971558907	0.12550	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	5.64	0.86480	3.235000	0.51027	3.309000	0.37448	0.580000	0.29708	1.000000	0.71638	0.924000	0.28388	0.195000	0.21750	0.0:0.9117:0.0:0.0883	11.640	0.50488	802	0.44336	.	.	.	.	.	.	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	0.174395	0.136364	0.123641	0.166667	0.250000	0.172414	0.165644	0.295455	0.2	8511.55	34	chr7	113878379	.	C	A	8511.55	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.373;DP=716;ExcessHet=0.0405;FS=2.679;InbreedingCoeff=0.375;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=19.04;ReadPosRankSum=0.066;SOR=0.501	GT:AD:DP:GQ:PL	0/1:51,66:117:99:1689,0,1407	7	1	2	0
chr7	114663436	114663436	-	T	intronic	FOXP2	.	.	.	Speech-language disorder-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	177727	Inborn_genetic_diseases|Childhood_apraxia_of_speech|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3236	0.209465	0.3636	0.1063	0.2943	0.1724	0.4590	0.4369	0.3610	0.3263	0.0001153	3	26028	rs1478553257	0.3837	0.3970	0.3848	0.3826	0.4175	0.3828	0.3824	0.4164	0.4159	0.0938	0.2799	0.2759	0.1190	0.4085	0.1994	0.4175	0.3570	0.3056	0.3203	0.3199	0.3227	0.3178	0.4529	0.3179	0.3169	0.4486	0.4469	0.1010	0.3819	0.3039	0.2802	0.1440	0.4542	0.1910	0.4529	0.2949	0.3137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4975.96	73	chr7	114663436	.	A	AT	4975.96	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.666;DP=513;ExcessHet=5.1594;FS=1.747;InbreedingCoeff=-0.4141;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.848;SOR=0.849	GT:AD:DP:GQ:PL	0/1:26,29:55:99:647,0,569	2	1	7	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	1/1:0,121:121:99:3835,363,0	0	8	2	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	1/0:0,2:3:36:.:.:402,66,36:.	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|1:125,37:162:99:0|1:142750561_C_T:1010,0,4806:142750561	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	0/1:173,23:196:99:.:.:445,0,7018:.	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	0/1:172,18:193:99:.:.:229,0,7294:.	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	0/1:203,64:267:99:1737,0,5545	2	0	8	0
chr8	27803513	27803513	-	AATA	UTR3	ESCO2	NM_001017420:c.*75_*76insAATA	.	.	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	155	1138	181	47	1	276	0.107801	.	.	.	308805	not_provided|Roberts-SC_phocomelia_syndrome	MedGen:C3661900|MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0191717	499	26028	rs139887923	0.1086	0.1090	0.1063	0.1108	0.3253	0.1081	0.1079	0.3205	0.3184	0.2373	0.0853	0.1738	0.3253	0.0804	0.1595	0.0904	0.1371	0.1882	0.1556	0.1562	0.1557	0.1555	0.3660	0.1540	0.1533	0.3522	0.3466	0.2532	0.0208	0.1276	0.1760	0.3660	0.0851	0.1667	0.0980	0.1654	0.1933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	191.16	23	chr8	27803513	.	T	TAATA	191.16	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-2.369;DP=98;ExcessHet=0;FS=0;InbreedingCoeff=0.0908;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=23.9;ReadPosRankSum=-1.93;SOR=0.33	GT:AD:DP:GQ:PL	0/1:3,5:8:99:201,0,111	7	0	1	2
chr8	38428408	38428408	T	G	exonic	FGFR1	.	nonsynonymous SNV	FGFR1:NM_001174066:exon3:c.A119C:p.D40A,FGFR1:NM_001354368:exon3:c.A119C:p.D40A,FGFR1:NM_001354370:exon3:c.A119C:p.D40A,FGFR1:NM_023105:exon3:c.A119C:p.D40A,FGFR1:NM_023106:exon3:c.A119C:p.D40A,FGFR1:NM_001174063:exon4:c.A386C:p.D129A,FGFR1:NM_001174065:exon4:c.A386C:p.D129A,FGFR1:NM_001354367:exon4:c.A386C:p.D129A,FGFR1:NM_001354369:exon4:c.A386C:p.D129A,FGFR1:NM_015850:exon4:c.A386C:p.D129A,FGFR1:NM_023110:exon4:c.A386C:p.D129A,FGFR1:NM_001174064:exon5:c.A362C:p.D121A,FGFR1:NM_001174067:exon5:c.A485C:p.D162A	Encephalocraniocutaneous lipomatosis, Somatic mosaicism;Hartsfield syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 2 with or without anosmia, Autosomal dominant;Jackson-Weiss syndrome, Autosomal dominant;Osteoglophonic dysplasia, Autosomal dominant;Pfeiffer syndrome, Autosomal dominant;Trigonocephaly 1, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	444277	FGFR1-related_disorder|Hypogonadotropic_hypogonadism_2_with_or_without_anosmia|Pfeiffer_syndrome|not_provided	.|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.662	0.227418458921	.	.	0.0001	0	0	0	0	4.686e-05	0	0.0008	0.00011	17	154602	rs765615419	5.2e-05	5.199e-05	2.587e-05	7.84e-05	0.0007	4.259e-05	3.889e-05	0.0006	0.0005	0	0	0	0	0	0.0005	5.396e-06	0.0001	0.0007	2.626e-05	2.625e-05	2.57e-05	2.685e-05	0.0004	8.14e-06	5.14e-06	7.296e-05	3.031e-05	0	0	6.537e-05	0	0	0	0	0	0.0005	0.0004	0.001	0.91255	D	0.077	0.74150	T	0.913	0.59353	P	0.702	0.61067	P	0.000000	0.84330	D	0.090906	1	0.81001	D	2.365	0.68172	M	-1.11	0.78082	T	-3.45	0.72353	D	0.753	0.82964	0.068	0.83583	D	0.508	0.81479	D	10	0.526051	0.62915	D	0.227418	0.88090	D	0.662	0.87381	0.569	0.69167	0.887666243209	0.88656	0.6979580144845393	0.69736	0.127986724719	0.14431	0.77654004097	0.78407	T	0.781472	0.94235	D	0.0589838	0.59486	T	0.239145	0.85110	D	0.516986668109894	0.33254	D	0.932007	0.82551	D	0.54339164	0.69586	0.4047027	0.64890	0.55517733	0.70244	0.42836893	0.66553	-7.889	0.62249	D	0.3130129851362753	0.41096	0.279	0.65559	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.751291	0.76717	26.6	0.99522509340392684	0.69346	0.90186	0.51166	D	AEFGBCI	0.757337	0.69632	D	0.433561036809446	0.63277	4.558405	0.503625839791808	0.68234	5.191987	0.999999999199039	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.69	5.69	0.88346	4.949000	0.63298	7.935000	0.75225	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:0.0:1.0	15.120	0.72113	844	0.36711	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	567.43	34	chr8	38428408	.	T	G	567.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.817;DP=355;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=0.286;SOR=0.927	GT:AD:DP:GQ:PL	0/1:29,23:52:99:579,0,711	9	0	1	0
chr8	54621194	54621194	C	T	exonic	RP1	.	synonymous SNV	RP1:NM_001375654:exon2:c.C228T:p.L76L,RP1:NM_006269:exon2:c.C228T:p.L76L	Retinitis pigmentosa 1, Autosomal recessive, Autosomal dominant	0	1496	24	2	0	28	0.00927152	.	.	.	178020	not_specified|not_provided|Retinitis_pigmentosa_1|Retinitis_pigmentosa	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008377,MedGen:C0220701,OMIM:180100,Orphanet:791|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0008	0.000199681	0.0010	0.0002	0.0016	0	0	0.0013	0	0.0009	0.0008732	135	154602	rs142600056	0.0009	0.0009	0.0008	0.0009	0.0336	0.0008	0.0008	0.0298	0.0283	0.0007	0.0016	0.0021	0	1.872e-05	0.0336	0.0007	0.0019	0.0009	0.0007	0.0007	0.0007	0.0008	0.0022	0.0006	0.0006	0.0016	0.0014	0.0001	0	0.0022	0.0012	0	0	0.0340	0.0007	0.0033	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	0.032226	0.020202	0.039402	0.081871	0.000000	0.017241	0.009146	0.003788	0.05	1694.43	33	chr8	54621194	.	C	T	1694.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.28;DP=446;ExcessHet=0;FS=12.399;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.01;SOR=1.703	GT:AD:DP:GQ:PL	0/1:64,60:124:99:1706,0,1513	9	0	1	0
chr8	132886915	132886915	C	G	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon9:c.C1543G:p.Q515E	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1391	123	8	0	139	0.0475864	.	.	.	253045	Iodotyrosyl_coupling_defect|not_specified|not_provided	MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.092	.	0.0138	0.00958466	0.0164	0.0064	0.0123	0	0.0159	0.0223	0.0243	0.0099	0.0161188	2492	154602	rs180222	0.0187	0.0187	0.0185	0.0190	0.0569	0.0186	0.0185	0.0518	0.0498	0.0062	0.0130	0.0306	7.557e-05	0.0129	0.0569	0.0204	0.0202	0.0103	0.0159	0.0159	0.0162	0.0155	0.0225	0.0153	0.0151	0.0215	0.0212	0.0054	0.0703	0.0166	0.0294	0	0.0121	0.0612	0.0225	0.0246	0.0091	0.529	0.07048	T	0.178	0.29639	T	0.0	0.02946	B	0.001	0.04355	B	0.013319	0.01361	N	4.456960	1	0.08975	N	0	0.06538	N	0.02	0.62318	T	-0.27	0.11366	N	0.039	0.01274	-1.0727	0.08830	T	0.038	0.16419	T	10	0.004487753	0.00092	T	.	.	.	0.092	0.26621	.	.	.	.	0.1446695506701495	0.14389	0.0749600561829	0.08408	0.222273439169	0.01445	T	0.019309	0.15408	T	-0.637211	0.00087	T	-0.670501	0.07577	T	0.00230050772965309	0.00024	T	0.305369	0.05850	T	0.032198455	0.03201	0.044108815	0.05641	0.032198455	0.03201	0.044108815	0.05641	-2.623	0.06680	T	0.10965937410994783	0.09179	0.063	0.01470	B	.	.	-0.826542	0.01056	0.045	0.15352636884024728	0.00372	0.09759	0.15442	N	AEFBI	0.164899	0.29134	N	-1.15088584085777	0.05765	0.2636861	-1.17613165090732	0.06310	0.3033476	0.0761118644700982	0.15717	0.553676	0.25195	0	0.59043	0.45803	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.89	-1.81	0.07456	-0.087000	0.11181	-2.101000	0.04211	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.2637:0.1562:0.354:0.2261	0.558	0.00629	850	0.35610	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.063948	0.070707	0.057065	0.070175	0.050000	0.086207	0.079268	0.053030	0.1	2537.14	36	chr8	132886915	.	C	G	2537.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.01;DP=497;ExcessHet=0.2348;FS=1.042;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.018;SOR=0.774	GT:AD:DP:GQ:PL	0/1:70,53:123:99:1220,0,1860	8	0	2	0
chr9	406999	406999	C	T	exonic	DOCK8	.	nonsynonymous SNV	DOCK8:NM_001190458:exon26:c.C3160T:p.R1054C,DOCK8:NM_001193536:exon27:c.C3256T:p.R1086C,DOCK8:NM_203447:exon28:c.C3460T:p.R1154C	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	0	1486	35	1	0	37	0.0122964	.	.	.	407710	not_provided|Combined_immunodeficiency_due_to_DOCK8_deficiency|.|not_specified|DOCK8-related_disorder	MedGen:C3661900|MONDO:MONDO:0009478,MedGen:C4722305,OMIM:243700,Orphanet:217390|.|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.288	0.016795402292	0.0015	0.00239617	0.0026	0.0002	0.0021	0.0001	0.0008	0.0025	0.0022	0.0068	0.0023932	370	154602	rs34390308	0.0019	0.0019	0.0016	0.0021	0.0085	0.0018	0.0018	0.0066	0.0063	0.0002	0.0015	0.0249	0	0.0011	0.0085	0.0010	0.0029	0.0069	0.0019	0.0019	0.0017	0.0020	0.0060	0.0017	0.0016	0.0043	0.0037	0.0001	0	0.0033	0.0242	0.0002	0.0008	0.0034	0.0015	0.0038	0.0060	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.049739	1	0.81001	D	1.155	0.29575	L	1.66	0.27486	T	-6.76	0.92736	D	0.833	0.82862	-1.0293	0.20681	T	0.158	0.49027	T	10	0.011115372	0.00244	T	0.016795	0.38225	T	0.288	0.60691	.	.	0.484109215787	0.48041	0.5377113857232877	0.53696	0.306616735053	0.32968	0.624718904495	0.56396	T	0.622668	0.88196	D	-0.235024	0.15989	T	-0.106786	0.62867	T	0.102144606949638	0.12591	T	0.950905	0.84591	D	0.74810517	0.80758	0.6437848	0.79179	0.72038245	0.79184	0.54444253	0.73669	-9.998	0.73900	D	0.5132293498190501	0.58668	0.216	0.50269	B	.;.;.;.	.;.;.;.	5.367910	0.90003	31	0.99947802293846078	0.99923	0.95127	0.63537	D	AEFBIJ	0.747506	0.68954	D	0.650964421836414	0.76433	6.485284	0.672967260541756	0.80332	7.275294	0.999985811417422	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	4.714000	0.61592	5.901000	0.50888	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.025	0.97519	872	0.31118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.004076	0.002924	0.000000	0.000000	0.018293	0.015152	0.05	1685.43	36	chr9	406999	.	C	T	1685.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.386;DP=481;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.844;SOR=0.683	GT:AD:DP:GQ:PL	0/1:85,74:159:99:1697,0,1983	9	0	1	0
chr9	2622077	2622077	C	G	ncRNA_intronic	VLDLR-AS1	.	.	.	.	212	1286	21	3	0	27	0.0103886	.	.	.	307970	Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_1|Congenital_cerebellar_hypoplasia|not_provided	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	.	.	.	.	.	.	.	.	.	.	.	0.00778754	.	.	.	.	.	.	.	.	0.0024062	372	154602	rs34433332	0.0163	0.0157	0.0165	0.0160	0.0179	0.0161	0.0160	0.0177	0.0176	0.0022	0.0057	0.0147	3.727e-05	0.0185	0.0082	0.0179	0.0156	0.0122	0.0114	0.0114	0.0120	0.0107	0.0179	0.0109	0.0107	0.0171	0.0167	0.0026	0.0110	0.0062	0.0118	0	0.0172	0.0034	0.0179	0.0095	0.0113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	259.45	34	chr9	2622077	.	C	G	259.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=264;ExcessHet=0;FS=3.755;InbreedingCoeff=-0.0543;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=1.2;SOR=1.609	GT:AD:DP:GQ:PL	0/1:14,10:24:99:271,0,369	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	1/0:2,25:56:99:2169,1126,1135	5	1	4	0
chr9	2648747	2648747	C	T	exonic	VLDLR	.	synonymous SNV	VLDLR:NM_001322225:exon13:c.C1918T:p.L640L,VLDLR:NM_001322226:exon13:c.C1918T:p.L640L,VLDLR:NM_001018056:exon14:c.C2041T:p.L681L,VLDLR:NM_003383:exon14:c.C2041T:p.L681L	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, Autosomal recessive	0	1481	39	2	0	43	0.0143095	.	.	.	136152	VLDLR-related_disorder|Congenital_cerebellar_hypoplasia|Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_1|not_provided|not_specified	.|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MONDO:MONDO:0024542,MedGen:C4551552,OMIM:224050,Orphanet:1766|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0067	0.00519169	0.0076	0.0016	0.0033	0.0001	0.0024	0.0086	0.0077	0.0162	0.0074708	1155	154602	rs79720897	0.0082	0.0082	0.0078	0.0085	0.0164	0.0080	0.0080	0.0157	0.0154	0.0012	0.0041	0.0044	2.519e-05	0.0021	0.0160	0.0086	0.0065	0.0164	0.0055	0.0055	0.0056	0.0053	0.0139	0.0051	0.0050	0.0112	0.0103	0.0011	0.0033	0.0037	0.0061	0	0.0020	0.0204	0.0087	0.0080	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	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	0.016616	0.020202	0.019022	0.014620	0.050000	0.000000	0.018293	0.018939	0.05	1959.43	35	chr9	2648747	.	C	T	1959.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=478;ExcessHet=0;FS=3.869;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.75;SOR=0.446	GT:AD:DP:GQ:PL	0/1:74,78:152:99:1971,0,1707	9	0	1	0
chr9	100252326	100252326	G	A	exonic	INVS	.	synonymous SNV	INVS:NM_001318382:exon9:c.G144A:p.K48K,INVS:NM_014425:exon9:c.G1122A:p.K374K,INVS:NM_001318381:exon10:c.G834A:p.K278K	Nephronophthisis 2, infantile, Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	.	492185	Nephronophthisis|not_provided	Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0002	0.0003	8.642e-05	0	0	0.0003	0	0	0.0001552	24	154602	rs140255233	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0003	0	0	0.0007	0.0002	0.0003	5.797e-05	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0001	0.0006	0	0	0.0032	0.0003	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	1277.43	33	chr9	100252326	.	G	A	1277.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.47;DP=452;ExcessHet=0;FS=6.605;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=0.116;SOR=0.611	GT:AD:DP:GQ:PL	0/1:82,54:136:99:1289,0,2005	9	0	1	0
chr9	133568656	133568656	G	A	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon15:c.G2142A:p.S714S,ADAMTSL2:NM_014694:exon15:c.G2142A:p.S714S	Geleophysic dysplasia 1, Autosomal recessive	0	1201	295	26	0	347	0.126228	.	.	.	311645	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00315	487	154602	rs11542920	0.0374	0.0374	0.0346	0.0402	0.1108	0.0371	0.0370	0.1090	0.1082	0.0228	0.0220	0.0601	0.0816	0.0235	0.1050	0.0308	0.0399	0.1108	0.0327	0.0327	0.0321	0.0334	0.1063	0.0320	0.0317	0.0987	0.0957	0.0246	0.0230	0.0275	0.0568	0.0623	0.0207	0.0748	0.0320	0.0322	0.1063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	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	.	.	.	.	.	.	.	.	0.3	10159.0	44	chr9	133568656	.	G	A	10159.0	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.21;DP=861;ExcessHet=0.6204;FS=2.487;InbreedingCoeff=0.0476;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.692;SOR=0.874	GT:AD:DP:GQ:PL	1/1:0,136:136:99:4375,408,0	5	1	4	0
chr9	133569476	133569476	A	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.A2313G:p.V771V,ADAMTSL2:NM_014694:exon16:c.A2313G:p.V771V	Geleophysic dysplasia 1, Autosomal recessive	1	295	703	523	0	1749	0.747755	.	.	.	508836	not_provided|Geleophysic_dysplasia_1|not_specified	MedGen:C3661900|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0407239	6296	154602	rs1064975	0.5605	0.5605	0.5634	0.5577	0.7681	0.5595	0.5591	0.7603	0.7570	0.7681	0.4251	0.5568	0.1084	0.5472	0.6215	0.5858	0.5480	0.4461	0.6001	0.6002	0.6089	0.5908	0.7598	0.5968	0.5955	0.7528	0.7499	0.7598	0.3695	0.5075	0.5591	0.0901	0.5535	0.6301	0.5883	0.5572	0.4239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.65	14598.0	100	chr9	133569476	.	A	G	14598.0	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.393;DP=849;ExcessHet=1.4371;FS=0.554;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=18.13;ReadPosRankSum=1.14;SOR=0.615	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2260,228,0	1	4	5	0
chr9	133569488	133569488	C	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.C2325G:p.S775S,ADAMTSL2:NM_014694:exon16:c.C2325G:p.S775S	Geleophysic dysplasia 1, Autosomal recessive	0	1194	298	30	0	358	0.130371	.	.	.	307339	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028719	444	154602	rs2301606	0.0375	0.0376	0.0348	0.0403	0.1106	0.0373	0.0372	0.1087	0.1079	0.0229	0.0219	0.0599	0.0821	0.0235	0.1056	0.0310	0.0403	0.1106	0.0329	0.0329	0.0322	0.0336	0.1062	0.0321	0.0318	0.0986	0.0956	0.0246	0.0230	0.0276	0.0567	0.0634	0.0207	0.0719	0.0323	0.0321	0.1062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	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	.	.	.	.	.	.	.	.	0.3	4771.96	38	chr9	133569488	.	C	G	4771.96	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.11;DP=602;ExcessHet=0.6204;FS=4.069;InbreedingCoeff=0.0476;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.465;SOR=0.473	GT:AD:DP:GQ:PL	1/1:0,68:68:99:1939,204,0	5	1	4	0
chr9	135759766	135759766	C	T	exonic	KCNT1	.	synonymous SNV	KCNT1:NM_001272003:exon10:c.C807T:p.T269T,KCNT1:NM_020822:exon11:c.C942T:p.T314T	Epilepsy, nocturnal frontal lobe, 5, Autosomal dominant;Epileptic encephalopathy, early infantile, 14, Autosomal dominant	9	1512	1	0	0	1	0.000330579	.	.	.	191084	not_provided|KCNT1-related_disorder|Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy,_14|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181|MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0008	0.000199681	0.0003	0.0005	8.69e-05	0.0001	0.0008	0.0004	0	0	0.0002911	45	154602	rs144766991	0.0005	0.0005	0.0005	0.0005	0.0014	0.0005	0.0005	0.0008	0.0007	0.0010	0.0006	3.83e-05	5.04e-05	0.0004	0.0014	0.0005	0.0006	4.638e-05	0.0007	0.0007	0.0007	0.0007	0.0013	0.0006	0.0006	0.0010	0.0009	0.0013	0	0.0007	0	0	0.0003	0.0068	0.0006	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	0.002016	0.000000	0.002725	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	1389.43	34	chr9	135759766	.	C	T	1389.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.185;DP=463;ExcessHet=0;FS=0.621;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=0.578;SOR=0.759	GT:AD:DP:GQ:PL	0/1:72,66:140:99:1401,0,1581	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	1/1:0,8:8:24:225,24,0	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	0/1:8,17:25:99:559,0,240	1	4	5	0
chr10	43114671	43114671	G	A	exonic	RET	.	nonsynonymous SNV	RET:NM_001355216:exon8:c.G1309A:p.G437S,RET:NM_020630:exon11:c.G2071A:p.G691S,RET:NM_020975:exon11:c.G2071A:p.G691S	Central hypoventilation syndrome, congenital, Autosomal dominant;Medullary thyroid carcinoma, Autosomal dominant;Multiple endocrine neoplasia IIA, Autosomal dominant;Multiple endocrine neoplasia IIB, Autosomal dominant;Pheochromocytoma, Autosomal dominant	5	773	611	133	0	877	0.361948	.	.	.	36275	Multiple_endocrine_neoplasia_type_2B|not_specified|Renal_hypodysplasia/aplasia_1|Multiple_endocrine_neoplasia,_type_2|Multiple_endocrine_neoplasia_type_2A|Hirschsprung_disease,_susceptibility_to,_1|Multiple_endocrine_neoplasia|Hereditary_cancer-predisposing_syndrome|not_provided|Pheochromocytoma	MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:247709,Orphanet:653|MedGen:CN169374|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830,Orphanet:411709|MONDO:MONDO:0019003,MedGen:C4048306,Orphanet:653|MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:247698,Orphanet:653|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100,Orphanet:276161|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.207	.	0.1570	0.169129	0.2033	0.1026	0.3688	0.1094	0.2214	0.1887	0.2272	0.2500	0.196938	30447	154602	rs1799939	0.1852	0.1852	0.1834	0.1871	0.3384	0.1846	0.1844	0.3339	0.3320	0.0963	0.3384	0.1988	0.0943	0.2118	0.2536	0.1778	0.1804	0.2569	0.1695	0.1698	0.1662	0.1731	0.2485	0.1678	0.1671	0.2419	0.2392	0.1010	0.1579	0.2485	0.2015	0.1055	0.2299	0.2397	0.1818	0.1795	0.2432	0.178	0.22138	T	0.123	0.35582	T	0.062	0.25884	B	0.007	0.17743	B	0.003826	0.34438	N	0.349618	1	0.08975	P	0.55	0.14455	N	-1.05	0.78082	T	-0.95	0.25332	N	0.045	0.02088	-1.0975	0.04407	T	0.000	0.00039	T	9	0.005253911	0.00115	T	.	.	.	0.207	0.49555	.	.	.	.	0.5028086851049985	0.50202	0.204518158434	0.22873	0.348253011703	0.17664	T	0.423	0.77390	T	-0.557986	0.00261	T	-0.430465	0.29884	T	0.0152077337298967	0.00333	T	0.842016	0.51794	T	0.039440107	0.05446	0.038123365	0.03613	0.03964718	0.05514	0.041703895	0.04799	-0.799	0.00802	T	0.11972520613525756	0.11186	0.073	0.04477	B	.;.	.;.	1.310757	0.17138	12.98	0.85950769653778381	0.16217	0.38801	0.26070	N	AEFDGBCI	0.075412	0.15142	N	-0.84095240757271	0.12273	0.5972382	-0.786731628796562	0.14821	0.77639	0.604377329902492	0.21753	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.75	-1.08	0.09428	4.413000	0.59549	1.794000	0.28824	0.676000	0.76740	1.000000	0.71638	0.910000	0.28117	0.003000	0.05239	0.7374:0.0:0.2626:0.0	9.258	0.36757	856	0.34373	.;.	RASGEF1A|CSGALNACT2|RASGEF1A|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RASGEF1A|RP11-351D16.3|RASGEF1A|RASGEF1A|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid	CSGALNACT2|CSGALNACT2	Artery_Tibial|Nerve_Tibial	rs1799939	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	0.246224	0.232323	0.247956	0.263158	0.300000	0.250000	0.234756	0.272727	0.3	9641.98	105	chr10	43114671	.	G	A	9641.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=2.37;DP=868;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.166;SOR=0.746	GT:AD:DP:GQ:PL	0/1:75,72:147:99:1842,0,1710	4	0	6	0
chr10	52771482	52771482	G	A	exonic	MBL2	.	nonsynonymous SNV	MBL2:NM_000242:exon1:c.C154T:p.R52C,MBL2:NM_001378373:exon2:c.C154T:p.R52C,MBL2:NM_001378374:exon2:c.C154T:p.R52C	.	425	935	151	11	0	173	0.0846794	.	.	YES	29391	not_provided|Cystic_fibrosis|Mannose-binding_lectin_deficiency	MedGen:C3661900|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MONDO:MONDO:0013714,MedGen:C3280586,OMIM:614372	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.527	.	0.0498	0.0271565	0.0569	0.0110	0.0264	0.0002	0.0584	0.0761	0.0551	0.0594	0.0560536	8666	154602	rs5030737	0.0659	0.0659	0.0653	0.0665	0.0735	0.0656	0.0654	0.0712	0.0711	0.0099	0.0272	0.1038	0.0002	0.0576	0.0735	0.0717	0.0612	0.0602	0.0494	0.0494	0.0501	0.0486	0.0722	0.0484	0.0481	0.0705	0.0699	0.0118	0.1567	0.0387	0.0991	0.0004	0.0609	0.0272	0.0722	0.0498	0.0567	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.977	0.73820	D	0.032677	0.24997	N	0.247365	0.993411	0.41932	A	3.445	0.92174	M	-3.2	0.93231	D	-4.94	0.81835	D	0.091	0.06990	0.062	0.83463	D	0.432	0.77374	T	9	0.0030004382	0.00049	T	.	.	.	0.527	0.80007	.	.	.	.	0.42006838530462065	0.41922	0.502214769166	0.48587	0.327009618282	0.14483	T	0.618358	0.88002	D	-0.221839	0.17743	T	-0.0280537	0.68498	D	0.0674288808456765	0.08286	T	0.974003	0.90706	D	0.5926832	0.72296	0.43889147	0.67259	0.5926832	0.72297	0.45634174	0.68400	-9.391	0.70179	D	0.7007590763589189	0.77970	0.236	0.46915	B	.	.	4.056622	0.60165	24.2	0.99917815049540892	0.98518	0.09150	0.14963	N	AEFBCI	0.132216	0.25144	N	0.380477454125213	0.60365	4.224615	0.19217995272698	0.49416	3.145189	0.999376067672215	0.39355	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.99	3.07	0.34476	0.972000	0.29007	2.800000	0.34847	0.676000	0.76740	0.002000	0.15269	0.165000	0.23294	0.959000	0.51448	0.0:0.0:0.7818:0.2182	9.112	0.35898	901	0.24189	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.053462	0.005208	0.053134	0.047059	0.055556	0.068966	0.087500	0.062016	0.1	3024.14	38	chr10	52771482	.	G	A	3024.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.56;DP=586;ExcessHet=0.2348;FS=2.01;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.083;SOR=0.562	GT:AD:DP:GQ:PL	0/1:79,63:142:99:1467,0,1903	8	0	2	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	0/1:76,77:153:99:2044,0,1771	7	0	3	0
chr10	75029035	75029035	G	A	exonic	KAT6B	.	nonsynonymous SNV	KAT6B:NM_001370135:exon10:c.G1868A:p.R623H,KAT6B:NM_001370133:exon11:c.G2522A:p.R841H,KAT6B:NM_001370134:exon12:c.G2126A:p.R709H,KAT6B:NM_001370143:exon15:c.G3146A:p.R1049H,KAT6B:NM_001370144:exon16:c.G3146A:p.R1049H,KAT6B:NM_001370132:exon17:c.G3173A:p.R1058H,KAT6B:NM_001370141:exon17:c.G3335A:p.R1112H,KAT6B:NM_001370142:exon17:c.G3335A:p.R1112H,KAT6B:NM_001256468:exon18:c.G3662A:p.R1221H,KAT6B:NM_001256469:exon18:c.G3335A:p.R1112H,KAT6B:NM_001370136:exon18:c.G4211A:p.R1404H,KAT6B:NM_001370137:exon18:c.G4211A:p.R1404H,KAT6B:NM_001370138:exon18:c.G3662A:p.R1221H,KAT6B:NM_001370139:exon18:c.G3335A:p.R1112H,KAT6B:NM_001370140:exon18:c.G3335A:p.R1112H,KAT6B:NM_012330:exon18:c.G4211A:p.R1404H	Genitopatellar syndrome, Autosomal dominant;SBBYSS syndrome	.	.	.	.	.	.	.	.	.	.	1184406	Genitopatellar_syndrome|Inborn_genetic_diseases|KAT6B-related_disorder|Blepharophimosis_-_intellectual_disability_syndrome,_SBBYS_type|not_provided	MONDO:MONDO:0011640,MedGen:C1853566,OMIM:606170,Orphanet:85201|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0011365,MedGen:C1863557,OMIM:603736,Orphanet:3047|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.131	0.018293983826	.	.	0.0002	0	0.0002	0	0	0.0002	0	0.0005	0.0002458	38	154602	rs563033366	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	5.974e-05	0.0001	3.826e-05	0	0	0.0002	0.0004	0.0004	0.0003	0.0002	0.0002	0.0003	0.0001	0.0004	0.0002	0.0001	0.0003	0.0002	7.227e-05	0	0	0	0	0	0	0.0004	0.0005	0.0002	0.832	0.03555	T	0.118	0.36233	T	0.0	0.02946	B	0.0	0.01387	B	0.255459	0.03674	N	1.550470	1	0.08975	N	-1.155	0.00891	N	-1.03	0.76561	T	1.38	0.01011	N	0.074	0.04790	-0.9147	0.46259	T	0.192	0.54448	T	10	0.018147588	0.00392	T	0.018294	0.40304	T	0.131	0.35738	.	.	0.171220215726	0.16700	0.02025162819760322	0.01978	0.242065103099	0.26720	0.19667583704	0.00367	T	0.050504	0.28615	T	-0.46996	0.00850	T	-0.594768	0.13255	T	0.0154008298851443	0.00344	T	.	.	.	0.00914532	0.00002	0.018084703	0.00046	0.00914532	0.00002	0.018084703	0.00046	-2.956	0.10464	T	.	.	0.055	0.01367	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-1.067980	0.00680	0.019	0.704473713444142	0.09299	0.03526	0.08713	N	AEFDBI	0.055132	0.10085	N	-1.51786400617653	0.01732	0.07582887	-1.59187382372277	0.01704	0.07745942	0.99998961018287	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.8	-7.29	0.01303	-0.778000	0.04770	-7.546000	0.01134	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.867000	0.41218	0.5224:0.2938:0.1838:0.0	8.635	0.33103	23	0.98420	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1086.43	33	chr10	75029035	.	G	A	1086.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.31;DP=446;ExcessHet=0;FS=1.55;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-1.004;SOR=0.856	GT:AD:DP:GQ:PL	0/1:62,45:107:99:1098,0,1395	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|1:0,36:36:99:1|1:90918983_AATAAATAAATATATATAT_A:1560,109,0:90918983	4	5	1	0
chr10	101010878	101010878	G	T	exonic	PDZD7	.	nonsynonymous SNV	PDZD7:NM_001195263:exon15:c.C2011A:p.R671S	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	3	1517	2	0	0	2	0.000658762	0.0309	0.11	.	654568	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs925832623	3.112e-05	3.215e-05	3.715e-05	2.494e-05	0.0005	2.345e-05	2.084e-05	0.0002	0.0002	0	0.0004	0	0	0	0.0005	2.317e-05	5.196e-05	0	3.288e-05	3.284e-05	1.286e-05	5.385e-05	0.0001	1.262e-05	7.99e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	4.41e-05	0	0	.	.	.	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539	0.56662	-0.8576	0.51434	T	0.180	0.52721	T	6	0.28959727	0.46541	T	.	.	.	.	.	.	.	0.0934897674506	0.08844	0.6483783243587042	0.64773	.	.	0.731171965599	0.71678	T	.	.	.	-0.101757	0.36135	T	-0.0765274	0.65157	T	0.882548630237579	0.53266	D	0.783222	0.41972	T	0.27543643	0.50607	0.4431767	0.67543	0.27543643	0.50607	0.4431767	0.67543	-5.518	0.42036	T	0.5378990429405159	0.60791	0.377	0.58221	A	.;.	.;.	4.277832	0.65141	24.8	0.90723889873354957	0.19974	0.70579	0.34649	D	AEFDBI	.	.	.	0.278632870790137	0.55065	3.671059	0.380464826479459	0.60360	4.222812	0.999998337568262	0.74766	0.055982	0.00716	0	0.060609	0.00678	0	0.072005	0.02045	0	0.079188	0.02158	0	0.961826	0.66234	5.3	5.3	0.74745	4.425000	0.59623	8.404000	0.77112	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.7101:0.2899	11.447	0.49372	556	0.71678	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001692	0.000000	0.000000	0.000000	0.000000	0.000000	0.008929	0.000000	0.05	800.43	42	chr10	101010878	.	G	T	800.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=377;ExcessHet=0;FS=5.987;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.525;SOR=1.597	GT:AD:DP:GQ:PL	0/1:29,27:56:99:812,0,718	9	0	1	0
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	1/1:0,35:35:99:974,105,0	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	0/1:16,3:19:24:.:.:24,0,507:.	7	0	3	0
chr11	1761383	1761383	C	T	exonic	CTSD	.	nonsynonymous SNV	CTSD:NM_001909:exon2:c.G154A:p.V52I	Ceroid lipofuscinosis, neuronal, 10, Autosomal recessive	0	1517	3	2	0	7	0.00230187	.	.	YES	202549	not_provided|Neuronal_ceroid_lipofuscinosis|Inborn_genetic_diseases|Neuronal_ceroid_lipofuscinosis_10	MedGen:C3661900|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012414,MedGen:C1864669,OMIM:610127,Orphanet:228337	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.020	0.0430530342969	0.0002	0.000399361	0.0003	0.0003	0.0009	0.0028	0	3.032e-05	0.0011	6.058e-05	0.0002846	44	154602	rs143517230	9.1e-05	9.166e-05	0.0001	7.152e-05	0.0017	7.825e-05	7.307e-05	0.0009	0.0008	0.0003	0.0003	0	0.0012	0	0.0017	4.137e-05	0.0001	1.159e-05	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0001	0.0012	0.0009	0.0002	0	0.0005	0	0.0021	0	0	8.821e-05	0	0	0.819	0.03218	T	0.496	0.11335	T	0.0	0.02946	B	0.001	0.04355	B	0.413738	0.04607	N	1.637160	1	0.08975	N	-0.865	0.01458	N	0.59	0.63077	T	0.18	0.05917	N	0.098	0.07949	-1.0458	0.15592	T	0.101	0.37443	T	10	0.006499797	0.00147	T	0.043053	0.60786	D	0.020	0.03691	.	.	0.119812018005	0.11559	0.22215873469311648	0.22130	0.402147105335	0.41176	0.305395066738	0.11210	T	0.245469	0.61477	T	-0.591096	0.00165	T	-0.623318	0.10926	T	0.00139181355848336	0.00014	T	0.09989	0.00820	T	0.013902123	0.00074	0.018745264	0.00065	0.013902123	0.00073	0.018745264	0.00065	-4.405	0.29625	T	.	.	0.069	0.05404	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	0.335410	0.07092	3.664	0.79584787589665407	0.12808	0.02699	0.07344	N	AEFDBCI	0.094511	0.19108	N	-1.80675651760129	0.00529	0.02276623	-1.90250944337841	0.00484	0.02144554	0.999999994040486	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.71	-7.43	0.01238	-0.621000	0.05655	-2.140000	0.04154	-2.028000	0.00431	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.109:0.2085:0.5494:0.1331	5.824	0.17800	982	0.03397	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	712.43	34	chr11	1761383	.	C	T	712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.88;DP=373;ExcessHet=0;FS=1.055;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.373;SOR=0.976	GT:AD:DP:GQ:PL	0/1:25,29:54:99:724,0,507	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	0/1:85,88:173:99:.:.:2180,0,1984:.	0	6	4	0
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	0/1:8,11:29:10:250,10,93	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	0/1:28,42:70:99:1107,0,714	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	0/1:22,27:49:99:657,0,618	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	0/1:9,12:21:99:396,0,277	5	3	2	0
chr11	17408375	17408375	T	C	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	7	314	660	541	0	1742	0.735021	.	.	.	167542	not_specified|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6088	0.614617	0.6125	0.6167	0.7059	0.7429	0.5248	0.6255	0.6038	0.46	0.601991	93069	154602	rs2106865	0.6116	0.6114	0.6155	0.6077	0.7147	0.6106	0.6101	0.7077	0.7048	0.6184	0.6958	0.6590	0.7147	0.5287	0.6211	0.6176	0.6245	0.4682	0.6174	0.6175	0.6250	0.6094	0.7228	0.6140	0.6127	0.7034	0.6955	0.6148	0.7252	0.6494	0.6653	0.7228	0.5244	0.6918	0.6235	0.6340	0.4757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4435.94	36	chr11	17408375	.	T	C	4435.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.1;DP=433;ExcessHet=0.3701;FS=2.105;InbreedingCoeff=0.1667;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-1.434;SOR=0.853	GT:AD:DP:GQ:PL	0/1:32,26:58:99:715,0,836	4	2	4	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	1/1:0,9:9:27:292,27,0	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	1/1:0,31:31:93:1242,93,0	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	1/1:0,43:43:99:1590,129,0	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	1/1:0,64:64:99:2008,192,0	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	0/1:62,52:114:99:1275,0,1593	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	1/1:0,140:140:99:4057,420,0	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	1/1:0,226:226:99:6835,678,0	1	2	7	0
chr11	22279865	22279866	TT	-	UTR3	ANO5	NM_001142649:c.*100_*101delTT;NM_213599:c.*100_*101delTT	.	.	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	198	4	1	16	7	40	0.804878	.	.	.	313674	Limb-girdle_muscular_dystrophy,_recessive|Miyoshi_myopathy|not_provided|not_specified	MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1491460943	0.4847	0.4800	0.4864	0.4832	0.5022	0.4832	0.4826	0.5004	0.4996	0.3369	0.4373	0.4965	0.3131	0.5284	0.4919	0.5022	0.4672	0.4755	0.5470	0.5408	0.5446	0.5494	0.6377	0.5437	0.5424	0.6326	0.6305	0.3600	0.7205	0.5649	0.6499	0.3285	0.7108	0.5906	0.6377	0.5639	0.5818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	302.12	2	chr11	22279864	.	CTT	C	302.12	.	AC=3;AF=0.5;AN=6;DP=23;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.833;MQ=60;QD=30.21;SOR=4.804	GT:AD:DP:GQ:PL	0/1:0,3:5:38:147,47,38	1	1	1	7
chr11	65557854	65557854	-	CAGCAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.105_106insCTGCTG:p.L35_G36insLL,LTBP3:NM_021070:exon1:c.105_106insCTGCTG:p.L35_G36insLL	Dental anomalies and short stature, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	390556	not_specified|Geleophysic_dysplasia_3|Brachyolmia-amelogenesis_imperfecta_syndrome	MedGen:CN169374|MONDO:MONDO:0054722,MedGen:C4540511,OMIM:617809|MONDO:MONDO:0011018,MedGen:C1832594,OMIM:601216,Orphanet:2899	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0517173	0.0922	0.0185	0.0385	0	0.0234	0.1274	0.1071	0.0908	0.0029172	451	154602	rs535365850	0.1577	0.1430	0.1586	0.1569	0.1715	0.1571	0.1569	0.1708	0.1705	0.0412	0.1142	0.1239	0.0536	0.0926	0.1486	0.1715	0.1411	0.0804	0.1243	0.1253	0.1302	0.1180	0.1808	0.1228	0.1222	0.1781	0.1770	0.0497	0.2698	0.1236	0.1428	0.0282	0.0948	0.2063	0.1808	0.1207	0.0933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1116.41	36	chr11	65557854	.	C	CCAGCAG	1116.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.652;DP=362;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=18.3;ReadPosRankSum=0.247;SOR=0.836	GT:AD:DP:GQ:PL	0/1:11,12:23:99:463,0,427	7	0	3	0
chr11	77156699	77156699	G	A	exonic	MYO7A	.	synonymous SNV	MYO7A:NM_000260:exon6:c.G510A:p.L170L,MYO7A:NM_001127180:exon6:c.G510A:p.L170L,MYO7A:NM_001369365:exon7:c.G477A:p.L159L	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	0	1479	41	2	0	45	0.014985	.	.	.	52442	Autosomal_dominant_nonsyndromic_hearing_loss_11|Usher_syndrome_type_1B|MYO7A-related_disorder|not_specified|Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_2|not_provided	MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635|MONDO:MONDO:0700087,MedGen:C2931206|.|MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0018	0.000998403	0.0025	0.0005	0.0021	0	0.0002	0.0031	0.0022	0.0040	0.0023738	367	154602	rs34477144	0.0018	0.0018	0.0016	0.0019	0.0347	0.0017	0.0017	0.0308	0.0292	0.0011	0.0030	0.0112	0	0.0001	0.0347	0.0012	0.0035	0.0039	0.0015	0.0015	0.0017	0.0013	0.0029	0.0013	0.0013	0.0018	0.0014	0.0005	0	0.0017	0.0115	0.0002	9.411e-05	0.0374	0.0016	0.0024	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	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	0.021148	0.015152	0.025815	0.032164	0.050000	0.008621	0.009146	0.007576	0.05	1212.43	35	chr11	77156699	.	G	A	1212.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.134;DP=425;ExcessHet=0;FS=1.701;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.337;SOR=0.906	GT:AD:DP:GQ:PL	0/1:61,46:107:99:1224,0,1696	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	0/1:40,24:64:99:425,0,934	3	0	7	0
chr12	6936729	6936749	CAGCAGCAGCAGCAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1462_1482del:p.Q496_Q502del,ATN1:NM_001940:exon5:c.1462_1482del:p.Q496_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	129	452	137	68	736	1009	0.231946	.	.	.	905935	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs1183228329	0.1140	0.1129	0.1133	0.1147	0.2024	0.1135	0.1133	0.1928	0.1889	0.0599	0.0711	0.1307	0.0196	0.0770	0.2024	0.1208	0.1141	0.1206	0.0965	0.0952	0.0980	0.0949	0.1252	0.0952	0.0946	0.1187	0.1178	0.0594	0.1881	0.0938	0.1362	0.0278	0.0722	0.2083	0.1209	0.1186	0.1252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	9342.27	64	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	A	9342.27	.	AC=3;AF=0.167;AN=18;BaseQRankSum=0.394;DP=728;ExcessHet=0.0125;FS=0;InbreedingCoeff=0.5286;MLEAC=3;MLEAF=0.167;MQ=59.97;MQRankSum=0;QD=31.56;ReadPosRankSum=-0.501;SOR=0.667	GT:AD:DP:GQ:PL	1/0:0,38:65:99:2616,1106,1436	6	0	3	1
chr12	8604926	8604926	-	AA	intronic	AICDA	.	.	.	Immunodeficiency with hyper-IgM, type 2, Autosomal recessive	533	144	331	418	96	1263	0.802062	.	.	.	332949	Hyper-IgM_syndrome_type_2|not_provided|Hyperimmunoglobulin_M_syndrome	MONDO:MONDO:0011528,MedGen:C1720956,OMIM:605258,Orphanet:101089|MedGen:C3661900|MONDO:MONDO:0003947,MedGen:C0272236,OMIM:PS308230	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0927	.	0.0609	0.0246	0.1102	0.0415	0.0617	0.0541	0.0714	0.0834	0.0003074	8	26028	rs5796316	0.1025	0.1775	0.1048	0.1003	0.1307	0.1020	0.1018	0.1273	0.1260	0.0421	0.1307	0.1048	0.0868	0.0995	0.1003	0.1067	0.1019	0.0733	0.0173	0.0193	0.0163	0.0183	0.0545	0.0167	0.0164	0.0513	0.0500	0.0078	0.0022	0.0545	0.0263	0.0023	0.0246	0.0184	0.0148	0.0151	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6512.79	76	chr12	8604926	.	C	CAA	6512.79	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.582;DP=398;ExcessHet=0.2348;FS=2.323;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.81;ReadPosRankSum=0.182;SOR=0.951	GT:AD:DP:GQ:PL	0/1:1,9:24:99:553,237,246	9	0	1	0
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	0/1:5,27:36:2:628,0,2	3	1	6	0
chr12	21910317	21910317	-	A	intronic	ABCC9	.	.	.	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	54552	not_provided|Dilated_Cardiomyopathy,_Dominant|Cardiomyopathy|Dilated_cardiomyopathy_1O|not_specified|Hypertrichotic_osteochondrodysplasia_Cantu_type|Familial_atrial_fibrillation	MedGen:C3661900|MedGen:CN239310|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012062,MedGen:C1837839,OMIM:608569,Orphanet:154|MedGen:CN169374|MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517|MONDO:MONDO:0018054,MedGen:C3468561,OMIM:PS608583,Orphanet:334	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0432	0.0626	0.0248	0.0504	0.0313	0.0394	0.0651	0.0612	0.0001153	3	26028	rs397517182	0.0468	0.0641	0.0466	0.0470	0.0796	0.0465	0.0464	0.0768	0.0756	0.0796	0.0411	0.0768	0.0586	0.0312	0.0791	0.0435	0.0548	0.0677	0.0267	0.0256	0.0261	0.0272	0.0465	0.0259	0.0256	0.0445	0.0437	0.0465	0.1444	0.0290	0.0405	0.0116	0.0065	0.0773	0.0160	0.0326	0.0255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	1615.18	32	chr12	21910317	.	C	CA	1615.18	.	AC=2;AF=0.111;AN=18;BaseQRankSum=0.587;DP=345;ExcessHet=1.0516;FS=3.974;InbreedingCoeff=-0.1004;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=0.678;SOR=1.052	GT:AD:DP:GQ:PL	0/1:15,9:29:80:126,0,356	7	0	2	1
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	0/1:6,9:15:99:256,0,193	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	1/1:0,65:65:99:2066,195,0	0	6	4	0
chr12	49033739	49033739	G	A	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon40:c.C10966T:p.R3656C	Kabuki syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	138449	Kabuki_syndrome_1|not_provided|Kabuki_syndrome|not_specified	MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322|MedGen:C3661900|MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.815	0.713018745315	0.0002	.	7.69e-05	0	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs201283589	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.772e-05	0.0001	0.0001	2.988e-05	8.951e-05	0.0006	0	0	0.0005	0.0001	9.94e-05	1.159e-05	7.889e-05	7.881e-05	6.425e-05	9.422e-05	0.0001	4.499e-05	3.514e-05	3.763e-05	2.575e-05	2.415e-05	0	0.0001	0.0006	0	0	0	8.822e-05	0.0005	0	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.971	0.72444	D	0.002144	0.37138	N	0.000000	0.99996	0.52935	D	1.445	0.36358	L	-1.35	0.80035	T	-1.87	0.43717	N	0.684	0.69037	0.106	0.84285	D	0.466	0.79400	T	10	0.6697521	0.70641	D	0.713019	0.97668	D	0.815	0.94046	.	.	0.375384844437	0.37152	0.5967219760068369	0.59603	0.749429864137	0.63691	0.6520216465	0.60273	T	0.065728	0.32763	T	0.0445508	0.57639	T	0.0238607	0.71880	D	0.171034593646659	0.18650	T	0.882712	0.60367	D	0.14247678	0.32786	0.14196461	0.33790	0.14247678	0.32785	0.14196461	0.33789	-6.229	0.48157	T	.	.	0.197	0.41932	B	.	.	4.130697	0.61814	24.4	0.97304973334982425	0.33299	0.94663	0.61905	D	AEFDBCI	0.725090	0.67419	D	0.525894939136781	0.68625	5.243142	0.586108093449022	0.73942	6.053842	0.99999999991969	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	4.728000	0.61694	11.757000	0.95541	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.199	0.89765	397	0.82902	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1980.43	44	chr12	49033739	.	G	A	1980.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.12;DP=732;ExcessHet=0;FS=4.263;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.485;SOR=1	GT:AD:DP:GQ:PL	0/1:113,77:190:99:1992,0,2880	9	0	1	0
chr12	51745886	51745886	T	-	intronic	SCN8A	.	.	.	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	5	1440	48	0	29	77	0.0163934	.	.	.	207979	not_specified|Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100620,MedGen:C5779964|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0375	.	0.2037	0.1521	0.2845	0.1547	0.0528	0.2049	0.1716	0.2962	0.0002305	6	26028	rs1212540413	0.1738	0.2284	0.1722	0.1754	0.1922	0.1731	0.1727	0.1890	0.1877	0.1696	0.1895	0.1994	0.1894	0.1806	0.1026	0.1702	0.1837	0.1922	0.0035	0.0064	0.0032	0.0038	0.0038	0.0032	0.0031	0.0034	0.0032	0.0018	0	0.0029	0.0018	0.0004	0.0144	0.0037	0.0038	0.0046	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	39.39	33	chr12	51745885	.	CT	C	39.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.063;DP=325;ExcessHet=0;FS=4.224;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=1.66;SOR=0.188	GT:AD:DP:GQ:PL	0/1:30,6:36:51:51,0,680	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	0/1:76,49:125:99:1120,0,1891	1	2	7	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	0/1:83,72:155:99:1903,0,1894	3	1	6	0
chr12	121001795	121001795	G	A	UTR3	C12orf43;HNF1A	NM_001286191:c.*2358C>T;NM_001286196:c.*2358C>T;NM_022895:c.*2358C>T;NM_000545:c.*603G>A;NM_001306179:c.*603G>A	.	.	.	198	1237	84	3	0	90	0.0351014	.	.	.	323500	Maturity_onset_diabetes_mellitus_in_young|Maturity-onset_diabetes_of_the_young_type_3	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.120008	0.0688	0.1436	0.0349	0.2101	0	0.0117	0.0614	0.0851	0.0138549	2142	154602	rs11065390	0.0438	0.0283	0.0410	0.0462	0.1946	0.0433	0.0430	0.1896	0.1876	0.1191	0.0168	0.0057	0.1946	0.0183	0.0267	0.0220	0.0449	0.0813	0.0618	0.0619	0.0601	0.0636	0.2429	0.0608	0.0603	0.2318	0.2273	0.1299	0.1451	0.0276	0.0063	0.2429	0.0122	0.0238	0.0214	0.0458	0.1028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	64.88	1	chr12	121001795	.	G	A	64.88	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.598;DP=23;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=0.598;SOR=0.693	GT:AD:DP:GQ:PL	0/1:3,3:6:73:73,0,87	6	0	1	3
chr13	23354860	23354860	T	C	exonic	SACS	.	synonymous SNV	SACS:NM_001278055:exon6:c.A1311G:p.L437L,SACS:NM_014363:exon8:c.A1752G:p.L584L	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	693347	Charlevoix-Saguenay_spastic_ataxia|Hereditary_spastic_paraplegia|Spastic_paraplegia	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98|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	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	.	0.0002	.	4.119e-05	0	0	0	0	5.996e-05	0	6.056e-05	3.23e-05	5	154602	rs368626712	1.642e-05	1.642e-05	1.497e-05	1.788e-05	0.0007	1.111e-05	9.33e-06	0.0002	0.0001	0	2.236e-05	0	0	0	0.0007	8.993e-06	4.967e-05	6.956e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	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	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1843.43	33	chr13	23354860	.	T	C	1843.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.39;DP=421;ExcessHet=0;FS=3.502;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=-0.368;SOR=1.018	GT:AD:DP:GQ:PL	0/1:49,64:113:99:1855,0,1254	9	0	1	0
chr13	24892872	24892872	-	A	intronic	CENPJ	.	.	.	Microcephaly 6, primary, autosomal recessive, Autosomal recessive	29	185	12	0	0	12	0.0314136	.	.	.	190891	Primary_Microcephaly,_Recessive|Seckel_syndrome|not_provided|not_specified	MedGen:CN239428|MONDO:MONDO:0019342,MedGen:C0265202,OMIM:PS210600,Orphanet:808|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1810	0.2316	0.2183	0.2795	0.1006	0.1305	0.1683	0.2814	0.0015752	41	26028	rs565804928	0.1201	0.1868	0.1195	0.1207	0.3056	0.1195	0.1192	0.2994	0.2969	0.2179	0.1888	0.1338	0.3056	0.1215	0.0837	0.1065	0.1325	0.1581	0.0414	0.0401	0.0403	0.0426	0.0894	0.0404	0.0400	0.0823	0.0795	0.0744	0.0291	0.0425	0.0163	0.0894	0.0368	0.0256	0.0203	0.0394	0.0156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	101.09	44	chr13	24892872	.	C	CA	101.09	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.607;DP=284;ExcessHet=0;FS=26.068;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.554;SOR=0.682	GT:AD:DP:GQ:PL	0/1:21,5:26:90:90,0,478	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	0/1:73,58:131:99:1684,0,2007	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	0/1:30,35:65:99:807,0,658	5	0	5	0
chr14	64017617	64017617	A	G	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon34:c.A4910G:p.Y1637C,SYNE2:NM_182914:exon34:c.A4910G:p.Y1637C	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	7	1495	19	1	0	21	0.00697443	.	.	.	270391	Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|not_provided	MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.070	0.0279470138198	0.0003	0.000798722	0.0004	0.0001	8.639e-05	0	0	0.0007	0	0.0005	0.0003816	59	154602	rs143578863	0.0003	0.0003	0.0003	0.0004	0.0108	0.0003	0.0003	0.0086	0.0079	0.0002	0.0001	0.0005	0	0	0.0108	0.0002	0.0008	0.0008	0.0003	0.0003	0.0004	0.0003	0.0008	0.0003	0.0002	0.0005	0.0004	4.811e-05	0	0.0008	0.0003	0	0	0.0102	0.0004	0.0014	0.0006	0.052	0.39097	T	0.003	0.76473	D	0.043	0.21573	B	0.035	0.22741	B	0.040195	0.24086	N	0.295883	1	0.81001	D	2.135	0.59519	M	1.35	0.59037	T	-4.23	0.78472	D	0.413	0.56489	-0.9620	0.38800	T	0.156	0.48738	T	10	0.02077666	0.00485	T	0.027947	0.50694	D	0.070	0.20419	.	.	0.433491693731	0.42969	0.2504348548407651	0.24957	0.0807992713291	0.09095	0.536102294922	0.43896	T	0.064025	0.69537	T	-0.28421	0.10226	T	-0.270179	0.47801	T	0.0706429236570103	0.08741	T	0.90371	0.66210	D	0.13872844	0.32073	0.16187179	0.37630	0.13872844	0.32073	0.16187179	0.37629	-5.54	0.42241	T	.	.	0.073	0.04847	B	.;.;.;.	.;.;.;.	3.286480	0.45050	22.1	0.9937110309557009	0.61455	0.92023	0.54774	D	AEFGBI	0.547919	0.56142	D	-0.18535108413049	0.33745	1.917921	-0.082959710859299	0.36094	2.096212	0.0527645248028014	0.14917	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	4.91	2.52	0.29514	4.703000	0.61511	5.264000	0.48131	0.750000	0.87069	1.000000	0.71638	0.997000	0.33255	0.994000	0.71098	0.792:0.0:0.0737:0.1343	6.853	0.23210	688	0.59122	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.005051	0.010870	0.014620	0.000000	0.017241	0.012195	0.000000	0.05	585.43	35	chr14	64017617	.	A	G	585.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.99;SOR=0.711	GT:AD:DP:GQ:PL	0/1:32,25:57:99:597,0,775	9	0	1	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|1:30,47:77:99:0|1:92071009_C_CG:1605,0,910:92071009	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	0/1:7,9:16:99:.:.:325,0,240:.	3	1	6	0
chr15	28018477	28018477	G	A	exonic	OCA2	.	nonsynonymous SNV	OCA2:NM_000275:exon7:c.C727T:p.R243C,OCA2:NM_001300984:exon7:c.C727T:p.R243C	Albinism, brown oculocutaneous, Autosomal recessive;Albinism, oculocutaneous, type II, Autosomal recessive	1	1514	7	0	0	7	0.00230643	.	.	YES	195572	Oculocutaneous_albinism|OCA2-related_disorder|Tyrosinase-positive_oculocutaneous_albinism|SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES|not_provided	MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55|.|MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432|MedGen:C1856895,OMIM:227220|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.340	0.0173050794318	0.0003	0.000798722	0.0002	0.0001	0	0.0018	0	0.0001	0	0.0002	0.0002199	34	154602	rs138065338	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0007	0.0007	5.975e-05	2.236e-05	0.0007	0.0010	0	0.0003	9.983e-05	0.0003	0.0005	0.0002	0.0002	0.0002	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	0.0001	0	0	0.0003	0.0033	0	0	0.0002	0	0	0.056	0.38185	T	0.073	0.43159	T	0.989	0.62824	D	0.711	0.54536	P	0.114161	0.02667	N	1.825400	1	0.08975	N	2.075	0.57047	M	-0.13	0.64818	T	-2.15	0.72353	N	0.385	0.72656	-0.8932	0.48650	T	0.205	0.56348	T	10	0.01161772	0.00253	T	0.017305	0.38957	T	0.340	0.66202	.	.	0.765386357803	0.76324	0.49197367650237095	0.49118	0.297088945593	0.32091	0.33315590024	0.15410	T	0.35988	0.72621	T	-0.271774	0.11560	T	-0.166525	0.57760	T	0.0324763674663829	0.02384	T	0.843016	0.52334	T	0.07231753	0.16077	0.049056698	0.07418	0.07606457	0.17179	0.05845182	0.10804	-7.946	0.64944	D	0.1438428568785399	0.16385	0.147	0.32493	B	.;.;.	.;.;.	1.099568	0.14838	11.37	0.99015774081968766	0.50463	0.07462	0.13479	N	AEFDBHCI	0.162949	0.28918	N	-0.426422732119593	0.24547	1.326168	-0.587491222758173	0.19819	1.065051	0.0745892574368267	0.15670	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.98	1.98	0.25351	-0.077000	0.11356	0.579000	0.19686	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.0896:0.5005:0.4099:0.0	8.655	0.33219	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1514.43	34	chr15	28018477	.	G	A	1514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.384;DP=424;ExcessHet=0;FS=1.546;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.308;SOR=0.575	GT:AD:DP:GQ:PL	0/1:46,65:111:99:1526,0,954	9	0	1	0
chr15	34791307	34791307	-	CA	ncRNA_intronic	LOC101928174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	322315	Left_ventricular_noncompaction_cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_restrictive_cardiomyopathy|Atrial_septal_defect_5|Hypertrophic_cardiomyopathy_11|Dilated_cardiomyopathy_1R|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided|Atrial_septal_defect	Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210,Orphanet:217635|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:CN239310|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020747	54	26028	rs767357797	0.0537	0.0905	0.0502	0.0571	0.0877	0.0533	0.0532	0.0859	0.0852	0.0708	0.0676	0.0639	0.0823	0.0800	0.0619	0.0460	0.0657	0.0877	0.1194	0.1243	0.1202	0.1185	0.1444	0.1179	0.1173	0.1412	0.1399	0.1444	0.0293	0.0882	0.0608	0.1144	0.1094	0.0899	0.1172	0.1079	0.1395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	22028.3	59	chr15	34791307	.	T	TCA	22028.3	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.545;DP=1400;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=33.13;ReadPosRankSum=-0.415;SOR=0.688	GT:AD:DP:GQ:PL	1/0:2,18:80:99:2863,2452,2447	6	0	4	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	0/1:59,55:114:99:1278,0,1458	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	1/1:0,137:137:99:4013,411,0	0	10	0	0
chr15	64963701	64963701	C	T	exonic	SPG21	.	synonymous SNV	SPG21:NM_001127890:exon8:c.G765A:p.A255A,SPG21:NM_001127889:exon9:c.G846A:p.A282A,SPG21:NM_016630:exon9:c.G846A:p.A282A	Mast syndrome, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	213137	not_specified|not_provided|Mast_syndrome|Hereditary_spastic_paraplegia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009568,MedGen:C1855346,OMIM:248900,Orphanet:101001|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0003	0.000798722	0.0005	0	0.0003	0.0006	0	0.0006	0.0022	0.0008	0.0005821	90	154602	rs146986015	0.0008	0.0008	0.0007	0.0008	0.0019	0.0007	0.0007	0.0011	0.0008	2.987e-05	0.0004	3.826e-05	0.0003	9.362e-05	0.0019	0.0009	0.0005	0.0009	0.0005	0.0005	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	0.0002	0	0.0005	0	0.0008	0	0	0.0008	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	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1630.43	41	chr15	64963701	.	C	T	1630.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.02;DP=530;ExcessHet=0;FS=2.156;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=1.31;SOR=0.895	GT:AD:DP:GQ:PL	0/1:74,67:141:99:1642,0,1586	9	0	1	0
chr15	67236015	67236015	C	T	exonic	AAGAB	.	nonsynonymous SNV	AAGAB:NM_001271885:exon4:c.G88A:p.V30I,AAGAB:NM_001271886:exon4:c.G88A:p.V30I,AAGAB:NM_024666:exon4:c.G415A:p.V139I	Keratoderma, palmoplantar, punctate type IA, Autosomal dominant	13	1501	7	1	0	9	0.00298904	.	.	.	1442434	Palmoplantar_keratoderma,_punctate_type_1A|not_provided	MONDO:MONDO:0007858,MedGen:CN031225,OMIM:148600,Orphanet:79501|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.327	0.0471669953297	0.0004	0.000798722	0.0008	0.0001	8.64e-05	0	0	0.0010	0.0011	0.0016	0.0007244	112	154602	rs138601241	0.0005	0.0005	0.0005	0.0006	0.0026	0.0005	0.0005	0.0016	0.0015	8.964e-05	0.0002	0.0029	0	7.497e-05	0.0026	0.0004	0.0007	0.0018	0.0004	0.0004	0.0005	0.0004	0.0014	0.0003	0.0003	0.0007	0.0005	0	0.0044	0.0001	0.0014	0	0	0.0034	0.0007	0	0.0014	0.291	0.91255	T	0.149	0.33780	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.07	0.56829	M	-1.29	0.79475	T	-0.33	0.15782	N	0.879	0.87699	0.083	0.83866	D	0.652	0.87885	D	10	0.027752995	0.00916	T	0.047167	0.62796	D	0.327	0.64926	.	.	0.89380241201	0.89275	0.33751851136880145	0.33664	0.0809506791772	0.09113	0.592890322208	0.51903	T	0.026423	0.23030	T	-0.12214	0.32774	T	0.0385473	0.72832	D	0.0906381961433819	0.11294	T	0.89481	0.65783	D	0.10610521	0.25089	0.14053124	0.33496	0.10610521	0.25089	0.14053124	0.33495	-8.511	0.64502	D	.	.	0.153	0.42477	B	.;.;.;.	.;.;.;.	4.499444	0.70358	25.5	0.99858840836375173	0.93729	0.98663	0.85295	D	AEFGBI	0.827474	0.74676	D	0.729908545981298	0.81593	7.558748	0.720851368283199	0.83963	8.161448	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.48	5.48	0.80675	7.218000	0.77483	7.691000	0.65788	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.702	0.96054	929	0.16858	.;.;.;.	.	.	.	.	.	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	0.003021	0.005051	0.001359	0.002924	0.000000	0.000000	0.006098	0.007576	0.05	2145.43	36	chr15	67236015	.	C	T	2145.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.716;DP=485;ExcessHet=0;FS=7.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.389;SOR=0.58	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,89:172:99:0|1:67236015_C_T:2157,0,2914:67236015	9	0	1	0
chr15	71811481	71811481	A	C	splicing	NR2E3	NM_014249:exon2:c.119-2A>C;NM_016346:exon2:c.119-2A>C	.	.	Enhanced S-cone syndrome, Autosomal recessive;Retinitis pigmentosa 37, Autosomal recessive, Autosomal dominant	2	1518	1	1	0	3	0.000987167	.	.	YES	188865	Retinal_dystrophy|not_specified|not_provided|Visual_impairment|Horizontal_nystagmus|Color_vision_defect|Enhanced_S-cone_syndrome|Retinitis_pigmentosa_37|Inborn_genetic_diseases|Goldmann-Favre_syndrome|Cone-rod_dystrophy|Retinitis_pigmentosa|NR2E3-related_disorder|Ocular_albinism	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|Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347|Human_Phenotype_Ontology:HP:0000666,MedGen:C0271385|Human_Phenotype_Ontology:HP:0000551,MedGen:C0234629|MONDO:MONDO:0100288,MedGen:C1849394,OMIM:268100,Orphanet:53540|MONDO:MONDO:0012625,MedGen:C1970163,OMIM:611131,Orphanet:791|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100289,MedGen:C0339541,Orphanet:53540|Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN239387|Human_Phenotype_Ontology:HP:0001107,Human_Phenotype_Ontology:HP:0007745,Human_Phenotype_Ontology:HP:0007837,MONDO:MONDO:0017304,MeSH:D016117,MedGen:C0078917,Orphanet:284804	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0004	0.0006	0	0	0	0.0007	0	0.0001	0.000194	30	154602	rs2723341	0.0007	0.0007	0.0007	0.0007	0.0008	0.0006	0.0006	0.0007	0.0007	0.0002	0.0001	0.0013	0	4.041e-05	0.0006	0.0008	0.0007	6.291e-05	0.0005	0.0005	0.0006	0.0004	0.0009	0.0004	0.0004	0.0007	0.0007	7.226e-05	0	0.0001	0.0017	0	0	0	0.0009	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.486155	0.00682	T	-0.531703	0.19118	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.054798	0.60130	24.2	0.93585304356508614	0.23434	0.76322	0.37423	D	AEFDGBI	.	.	.	0.612727978188276	0.73979	6.055322	0.33085623754199	0.57359	3.901529	0.991080041134912	0.32367	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.062806	0.01542	0	0.0954646	0.21411	3.69	3.69	0.41483	4.055000	0.57153	10.928000	0.84272	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.673000	0.33338	0.8869:0.0:0.1131:0.0	6.843	0.23157	933	0.16026	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	931.43	41	chr15	71811481	.	A	C	931.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=456;ExcessHet=0;FS=0.744;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-1.187;SOR=0.827	GT:AD:DP:GQ:PL	0/1:70,42:112:99:943,0,1691	9	0	1	0
chr15	78513681	78513681	T	C	intronic	HYKK	.	.	.	.	1079	356	30	57	0	144	0.168224	.	.	YES	3495312	Chronic_obstructive_pulmonary_disease	Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	0.188898	.	.	.	.	.	.	.	.	0.275434	7169	26028	rs8034191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2722	0.2723	0.2756	0.2686	0.3510	0.2700	0.2691	0.3473	0.3458	0.1664	0.4068	0.2323	0.3453	0.0289	0.3321	0.4150	0.3510	0.2875	0.2353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	181.19	.	chr15	78513681	.	T	C	181.19	.	AC=6;AF=0.6;AN=10;DP=13;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.7;MQ=60;QD=25.88;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	3	0	5
chr15	98959855	98959855	A	-	UTR3	IGF1R	NM_001291858:c.*2413delA;NM_000875:c.*2413delA	.	.	Insulin-like growth factor I, resistance to, Autosomal recessive, Autosomal dominant	1483	34	0	5	0	10	0.128205	.	.	.	333381	Growth_delay_due_to_insulin-like_growth_factor_I_resistance	MONDO:MONDO:0010038,MedGen:C1849157,OMIM:270450,Orphanet:73273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.620008	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1187713192	0.4635	0.0657	0.4624	0.4647	0.4793	0.4592	0.4575	0.4738	0.4715	0.4168	0.4402	0.4591	0.4169	0.5417	0.4479	0.4793	0.4674	0.4723	0.6485	0.6476	0.6504	0.6465	0.7414	0.6451	0.6436	0.7360	0.7337	0.4885	0.5798	0.6248	0.6971	0.5006	0.7665	0.6310	0.7414	0.6552	0.6689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	49.11	1	chr15	98959854	.	TA	T	49.11	.	AC=2;AF=1;AN=2;DP=3;ExcessHet=0;FS=0;MLEAC=3;MLEAF=1;MQ=60;QD=24.55;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:52,6,0	0	1	0	9
chr16	2040212	2040212	C	T	exonic	NTHL1	.	nonsynonymous SNV	NTHL1:NM_001318193:exon4:c.G541A:p.A181T,NTHL1:NM_001318194:exon5:c.G382A:p.A128T,NTHL1:NM_002528:exon5:c.G712A:p.A238T	Familial adenomatous polyposis 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	643995	not_provided|NTHL1-related_disorder|Familial_adenomatous_polyposis_3|Hereditary_cancer-predisposing_syndrome	MedGen:C3661900|.|MONDO:MONDO:0014630,MedGen:C4225157,OMIM:616415,Orphanet:220460,Orphanet:454840|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.296	0.0474998369251	0.0008	0.000599042	0.0002	0.0020	0.0002	0	0	3.017e-05	0	0	0.0001811	28	154602	rs147559648	6.706e-05	6.772e-05	6.4e-05	7.015e-05	0.0015	5.63e-05	5.173e-05	0.0012	0.0011	0.0015	0.0002	0	0	0	0.0002	2.968e-05	9.936e-05	0	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0011	0.0010	0.0013	0	0.0003	0	0	0	0.0034	1.47e-05	0	0	0.55	0.06585	T	0.248	0.23845	T	0.167	0.28604	B	0.053	0.25678	B	0.000938	0.41028	N	0.278369	0.762	0.34052	D	1.355	0.33814	L	-2.21	0.86963	D	-0.76	0.21215	N	0.136	0.13341	-0.6396	0.63163	T	0.355	0.71827	T	10	0.013747215	0.00291	T	0.048	0.62947	D	0.296	0.61616	.	.	0.165133752707	0.16062	0.6653518404285238	0.66472	0.0611966656962	0.06815	0.377578556538	0.21913	T	0.289694	0.66248	T	-0.306065	0.08099	T	-0.219202	0.52814	T	0.00611318737558685	0.00067	T	0.875013	0.58582	D	0.044770338	0.07213	0.06384739	0.12709	0.044770338	0.07212	0.06384739	0.12709	-5.208	0.39023	T	0.13423978672886142	0.14482	0.092	0.13597	B	.	.	1.166586	0.15557	11.94	0.72634597587762961	0.10042	0.22660	0.21821	N	AEFDBHCIJ	0.530559	0.55120	D	-0.929338681107373	0.10160	0.4842188	-0.888205390382292	0.12372	0.6360725	0.999998993104163	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	4.45	2.05	0.25860	0.256000	0.18120	-1.133000	0.06232	-0.978000	0.01909	0.184000	0.24113	0.000000	0.08366	0.379000	0.26312	0.3004:0.439:0.0:0.2606	3.669	0.07801	675	0.60470	HhH-GPD domain|HhH-GPD domain|HhH-GPD domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1189.43	35	chr16	2040212	.	C	T	1189.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.3;DP=413;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.382;SOR=0.927	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1201,0,1220	9	0	1	0
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	0/1:19,7:32:99:168,0,580	0	0	10	0
chr16	30091839	30091839	C	A	intronic	TBX6	.	.	.	Spondylocostal dysostosis 5, Autosomal recessive, Autosomal dominant	1246	176	28	72	0	172	0.328244	.	.	YES	185945	not_specified|Spondylocostal_dysostosis_5	MedGen:CN169374|MONDO:MONDO:0007389,MedGen:C4083048,OMIM:122600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.462061	.	.	.	.	.	.	.	.	0.423506	11023	26028	rs3809627	0.3478	0.0657	0.3200	0.3582	0.5000	0.2795	0.2547	0.2790	0.2465	0.2000	0	0.5000	0.5000	.	.	0.3725	0.3750	0.3276	0.4146	0.4149	0.4083	0.4212	0.5713	0.4119	0.4108	0.5541	0.5471	0.3471	0.3575	0.4821	0.4622	0.5713	0.4831	0.4388	0.4110	0.4262	0.4861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	75.51	1	chr16	30091839	.	C	A	75.51	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.674;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;MQRankSum=0;QD=18.88;ReadPosRankSum=1.15;SOR=0.916	GT:AD:DP:GQ:PL	0/1:1,3:4:29:78,0,29	2	0	1	7
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	0/1:99,13:112:4:4,0,2661	6	0	4	0
chr16	81096282	81096282	C	A	UTR5	GCSH	NM_004483:c.-4G>T	.	.	Glycine encephalopathy, Autosomal recessive	48	1134	338	2	0	342	0.131034	.	.	.	797414	not_provided|GCSH-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1306	.	0.125	.	.	0.2	0	0.13	3.84e-05	1	26028	rs779613867	0.0530	0.1491	0.0569	0.0490	0.0617	0.0525	0.0523	0.0611	0.0608	0.0419	0.0274	0.0224	0.0065	0.0052	0.0352	0.0617	0.0371	0.0404	0.0003	0.0025	0.0004	0.0003	0.0006	0.0003	0.0002	0.0003	0.0002	0.0002	0.0011	0.0002	0	0.0006	0.0009	0	0.0004	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	37.45	11	chr16	81096282	.	C	A	37.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.191;DP=183;ExcessHet=0.7463;FS=1.202;InbreedingCoeff=-0.1768;MLEAC=2;MLEAF=0.1;MQ=50.44;MQRankSum=-2.287;QD=0.59;ReadPosRankSum=-0.597;SOR=0.463	GT:AD:DP:GQ:PL	0/1:13,2:15:4:4,0,347	7	0	3	0
chr16	88807362	88807362	C	T	exonic	CDT1	.	nonsynonymous SNV	CDT1:NM_030928:exon9:c.C1357T:p.R453W	Meier-Gorlin syndrome 4, Autosomal recessive	0	1503	17	2	0	21	0.00693756	.	.	.	429864	not_provided|not_specified|Meier-Gorlin_syndrome_4	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013431,MedGen:C3151120,OMIM:613804,Orphanet:2554	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.591	0.196229013514	0.0002	0.00119808	0.0015	0.0002	0.0004	0	0	0.0002	0.0024	0.0097	0.0012613	195	154602	rs200672589	0.0007	0.0007	0.0004	0.0010	0.0100	0.0007	0.0007	0.0095	0.0093	5.975e-05	0.0001	0	0	1.924e-05	0.0017	8.994e-05	0.0009	0.0100	0.0004	0.0004	0.0003	0.0006	0.0087	0.0003	0.0003	0.0066	0.0059	2.405e-05	0	6.532e-05	0	0	0	0	0.0002	0.0005	0.0087	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000011	0.62929	D	0.064498	0.994457	0.42288	D	3.04	0.86592	M	-1.89	0.84557	D	-6.96	0.93509	D	0.944	0.95139	0.236	0.86517	D	0.703	0.89779	D	10	0.044795364	0.03478	T	0.196229	0.86468	D	0.591	0.83691	.	.	0.966768201255	0.96641	0.692137122156209	0.69153	0.0957176713652	0.10811	0.487810194492	0.37135	T	0.678472	0.90533	D	0.0893022	0.63112	D	0.362749	0.90804	D	0.261758791827368	0.23392	T	0.907609	0.67324	D	0.8409009	0.86673	0.7466684	0.85026	0.8409009	0.86674	0.7466684	0.85027	-9.535	0.71076	D	0.8500032524423916	0.91640	0.141	0.30971	B	.	.	4.595256	0.72728	25.9	0.99750430590642192	0.84228	0.97147	0.72965	D	AEFDBHCI	0.482043	0.52308	N	0.00257246074425099	0.41972	2.520293	-0.209665185033156	0.31187	1.762707	0.999993722833189	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.48	0.746	0.17514	3.144000	0.50312	3.284000	0.37253	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	0.2042:0.5621:0.0992:0.1345	4.433	0.10959	824	0.40336	DNA replication factor Cdt1, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.005102	0.001359	0.002941	0.000000	0.000000	0.003049	0.015152	0.1	1481.14	33	chr16	88807362	.	C	T	1481.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.31;DP=400;ExcessHet=0.2348;FS=2.296;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.332;SOR=0.882	GT:AD:DP:GQ:PL	0/1:43,47:90:99:1131,0,946	8	0	2	0
chr17	744916	744916	C	T	exonic	GEMIN4	.	nonsynonymous SNV	GEMIN4:NM_015721:exon2:c.G3127A:p.G1043S	.	.	.	.	.	.	.	.	.	.	.	2814643	not_provided|GEMIN4-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.072	0.00344471155881	0.0024	0.00279553	0.0008	0.0098	0.0002	0	0	0	0	0.0001	0.0007244	112	154602	rs180894698	0.0003	0.0003	0.0003	0.0002	0.0090	0.0002	0.0002	0.0082	0.0079	0.0090	0.0004	0	0	0	0	7.196e-06	0.0006	8.12e-05	0.0022	0.0022	0.0023	0.0022	0.0077	0.0020	0.0020	0.0071	0.0068	0.0077	0	0.0010	0	0.0002	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.006209	0.32193	N	0.368343	1	0.08975	N	0.06	0.08197	N	3.55	0.04746	T	0.98	0.01447	N	0.038	0.01203	-0.9641	0.38389	T	0.004	0.01226	T	10	0.0049390793	0.00106	T	0.003445	0.07755	T	0.072	0.21020	.	.	0.17258766438	0.16869	0.05355334966229155	0.05297	0.129374146952	0.14584	0.327751874924	0.14595	T	0.006348	0.05784	T	-0.688302	0.00043	T	-0.755218	0.03287	T	0.00093135008145573	0.00009	T	0.224478	0.02928	T	0.033393458	0.03550	0.04834895	0.07162	0.033237748	0.03502	0.046210635	0.06391	-2.37	0.04952	T	.	.	0.075	0.05360	B	.;.	.;.	0.641653	0.10099	6.848	0.69377064655943232	0.08952	0.03866	0.09228	N	AEFDBCI	0.035048	0.04446	N	-1.10336279348504	0.06584	0.3034603	-0.914550976608859	0.11750	0.6005589	0.0395787770605876	0.14400	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.71	4.61	0.56724	0.434000	0.21212	3.426000	0.38284	-0.108000	0.15293	0.024000	0.20007	1.000000	0.68203	0.278000	0.23967	0.0:0.2493:0.0:0.7507	8.227	0.30732	945	0.12563	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1850.43	34	chr17	744916	.	C	T	1850.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.467;DP=459;ExcessHet=0;FS=0.626;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0.602;SOR=0.786	GT:AD:DP:GQ:PL	0/1:68,74:142:99:1862,0,1634	9	0	1	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	0/1:58,36:108:99:116,0,699	1	0	9	0
chr17	17224005	17224005	G	A	exonic	FLCN	.	nonsynonymous SNV	FLCN:NM_144606:exon6:c.C535T:p.R179W,FLCN:NM_144997:exon6:c.C535T:p.R179W,FLCN:NM_001353230:exon7:c.C535T:p.R179W,FLCN:NM_001353231:exon7:c.C535T:p.R179W,FLCN:NM_001353229:exon8:c.C589T:p.R197W	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	.	.	.	.	.	.	.	.	.	YES	402038	not_provided|not_specified|Birt-Hogg-Dube_syndrome|Hereditary_cancer-predisposing_syndrome|17p11.2_microduplication_syndrome|Birt-Hogg-Dube_syndrome_1|Familial_spontaneous_pneumothorax|Nonpapillary_renal_cell_carcinoma|Colorectal_cancer	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:100038247,MONDO:MONDO:0012574,MedGen:C2931246,OMIM:610883,Orphanet:1713|MONDO:MONDO:0800445,MedGen:CN375946,OMIM:135150,Orphanet:122|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.659	0.327396208473	.	.	5.838e-05	0	0	0	0	7.606e-05	0.0022	0	4.53e-05	7	154602	rs774358971	4.79e-05	4.788e-05	4.63e-05	4.952e-05	6.708e-05	3.861e-05	3.541e-05	4.265e-05	3.837e-05	0	6.708e-05	0	2.519e-05	0	0	5.396e-05	8.279e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.544e-05	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.991	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.095	0.58118	M	-2.48	0.89071	D	-4.96	0.83763	D	0.875	0.87590	0.628	0.92271	D	0.774	0.92325	D	10	0.7854332	0.78206	D	0.327396	0.91652	D	0.659	0.87234	0.437	0.48993	0.865525898778	0.86422	0.8514265538539851	0.85104	1.18360250493	0.80079	0.842413127422	0.88463	D	0.959602	0.99471	D	0.285528	0.81784	D	0.364048	0.90855	D	0.597898483276367	0.36317	D	0.920908	0.74555	D	0.89133996	0.90623	0.886935	0.94050	0.89133996	0.90624	0.886935	0.94050	-11.251	0.81017	D	0.6621336169171075	0.73578	0.972	0.91928	P	.;.;.	.;.;.	5.472705	0.91291	32	0.99928195512372375	0.99222	0.95373	0.64467	D	AEFGBI	0.736665	0.68210	D	0.731994064448193	0.81729	7.591051	0.732963977188795	0.84882	8.417202	0.100755776078523	0.16361	0.744818	0.98587	0	0.697927	0.68747	0	0.732433	0.93434	0	0.711	0.71501	0	.	.	5.74	5.74	0.90070	4.184000	0.58121	7.522000	0.59778	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8503:0.1497	14.148	0.64899	794	0.45591	Folliculin, N-terminal|Folliculin/SMCR8, tripartite DENN domain;Folliculin, N-terminal|Folliculin/SMCR8, tripartite DENN domain;Folliculin, N-terminal|Folliculin/SMCR8, tripartite DENN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1011.43	34	chr17	17224005	.	G	A	1011.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.77;DP=423;ExcessHet=0;FS=3.825;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=1.57;SOR=0.389	GT:AD:DP:GQ:PL	0/1:62,41:103:99:1023,0,1394	9	0	1	0
chr17	18127112	18127112	C	T	exonic	MYO15A	.	synonymous SNV	MYO15A:NM_016239:exon7:c.C3979T:p.L1327L	Deafness, autosomal recessive 3, Autosomal recessive	0	1429	89	4	0	97	0.0328257	.	.	.	54910	not_provided|MYO15A-related_disorder|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_3	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.00179712	0.0019	0	0.0012	0	0	0.0011	0.0045	0.0081	0.0015912	246	154602	rs146245515	0.0012	0.0012	0.0009	0.0014	0.0132	0.0011	0.0011	0.0108	0.0099	8.961e-05	0.0011	0.0006	5.038e-05	3.749e-05	0.0132	0.0006	0.0024	0.0081	0.0010	0.0010	0.0009	0.0011	0.0106	0.0009	0.0008	0.0083	0.0074	4.814e-05	0	0.0022	0.0017	0	0	0.0102	0.0007	0.0033	0.0106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	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	0.009063	0.000000	0.006793	0.011696	0.000000	0.008621	0.012195	0.018939	0.05	2418.43	92	chr17	18127112	.	C	T	2418.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.153;DP=786;ExcessHet=0;FS=1.188;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=0.731;SOR=0.602	GT:AD:DP:GQ:PL	0/1:78,93:171:99:2430,0,1931	9	0	1	0
chr17	18130817	18130817	-	GT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	327562	not_specified|Hearing_loss,_autosomal_recessive|not_provided	MedGen:CN169374|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs1491181087	0.0508	0.0762	0.0487	0.0530	0.0674	0.0505	0.0503	0.0640	0.0633	0.0610	0.0556	0.0884	0.0385	0.0916	0.0674	0.0454	0.0670	0.0656	0.1518	0.1577	0.1527	0.1507	0.1608	0.1497	0.1488	0.1564	0.1547	0.1608	0.1330	0.1588	0.1560	0.0561	0.1838	0.1758	0.1499	0.1741	0.1314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4811.16	26	chr17	18130817	.	A	AGT	4811.16	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.661;DP=1077;ExcessHet=0.7463;FS=2.778;InbreedingCoeff=-0.1765;MLEAC=8;MLEAF=0.4;MQ=59.99;MQRankSum=0;QD=17.89;ReadPosRankSum=0.434;SOR=1.055	GT:AD:DP:GQ:PL	1/0:11,15:45:99:418,139,495	2	0	8	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	0/1:57,52:109:99:1083,0,1420	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|1:171,138:309:99:0|1:21300875_G_T:5205,0,6636:21300875	0	0	10	0
chr17	61483613	61483613	-	GTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	339436	not_provided|Coxopodopatellar_syndrome	MedGen:C3661900|MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014243	2202	154602	rs149977669	0.0596	0.0681	0.0566	0.0623	0.0909	0.0591	0.0589	0.0887	0.0879	0.0854	0.0509	0.0943	0.0511	0.0502	0.0660	0.0547	0.0693	0.0909	0.1012	0.1026	0.1036	0.0984	0.1398	0.0997	0.0992	0.1302	0.1264	0.1162	0.0689	0.0887	0.1141	0.0554	0.0666	0.0846	0.1010	0.1055	0.1398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2341.75	5	chr17	61483613	.	A	AGTGTGTGT	2341.75	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.366;DP=241;ExcessHet=0.6204;FS=3.708;InbreedingCoeff=0.052;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=32.08;ReadPosRankSum=-0.48;SOR=2.466	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,7:14:93:.:.:675,146,93:.	7	0	3	0
chr17	61483613	61483613	-	GTGTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	345241	not_provided|Coxopodopatellar_syndrome	MedGen:C3661900|MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003816	59	154602	rs149977669	0.0352	0.0418	0.0350	0.0354	0.0661	0.0348	0.0347	0.0628	0.0614	0.0661	0.0292	0.0748	0.0235	0.0349	0.0442	0.0336	0.0422	0.0325	0.0615	0.0639	0.0624	0.0604	0.0928	0.0604	0.0599	0.0901	0.0890	0.0928	0.0338	0.0454	0.0856	0.0393	0.0354	0.0772	0.0530	0.0633	0.0469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2341.75	5	chr17	61483613	.	A	AGTGTGTGTGT	2341.75	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.366;DP=241;ExcessHet=0.6204;FS=3.708;InbreedingCoeff=0.052;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=32.08;ReadPosRankSum=-0.48;SOR=2.466	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,5:14:93:.:.:675,228,183:.	8	0	2	0
chr17	80048756	80048756	G	C	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_001243342:exon5:c.G850C:p.D284H,CCDC40:NM_001330508:exon5:c.G850C:p.D284H,CCDC40:NM_017950:exon5:c.G850C:p.D284H	Ciliary dyskinesia, primary, 15	0	1480	41	1	0	43	0.014319	.	.	.	256485	Primary_ciliary_dyskinesia_15|Primary_ciliary_dyskinesia|Male_infertility|not_specified|not_provided	MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MedGen:C0021364|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.174	.	0.0024	0.00139776	0.0041	0.0012	0.0013	0	0	0.0039	0.0145	0.0102	0.002639	408	154602	rs201042940	0.0025	0.0025	0.0023	0.0027	0.0191	0.0024	0.0024	0.0162	0.0151	0.0011	0.0013	0.0062	0	0.0002	0.0191	0.0021	0.0032	0.0087	0.0016	0.0016	0.0014	0.0018	0.0087	0.0014	0.0014	0.0066	0.0059	0.0004	0.0011	0.0008	0.0037	0	0.0002	0.0204	0.0021	0.0043	0.0087	0.004	0.72154	D	0.008	0.76473	D	1.0	0.90584	D	0.968	0.75168	D	.	.	.	.	0.633722	0.32813	D	2.83	0.82355	M	0.33	0.59314	T	-4.65	0.84601	D	0.53	0.55886	-0.2553	0.76216	T	0.347	0.71147	T	9	0.01399526	0.00295	T	.	.	.	0.174	0.44019	.	.	0.682504492806	0.67979	0.24220831427307404	0.24134	0.76162819002	0.64289	0.405483782291	0.25832	T	0.56747	0.85623	D	-0.250417	0.14046	T	-0.125376	0.61358	T	0.0493624269693155	0.05388	T	0.881912	0.64770	D	0.2342842	0.46246	0.24963558	0.50538	0.23541293	0.46377	0.29497436	0.55528	-7.763	0.62419	D	0.7666023762268043	0.84792	0.346	0.56831	A	.;.;.;.	.;.;.;.	2.747739	0.36012	20.1	0.99456458065418962	0.65581	0.51224	0.28846	D	AEFGBIJ	0.137980	0.25913	N	0.264883616036358	0.54378	3.603614	0.120231942431681	0.45586	2.81906	6.51723434342093E-4	0.07551	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.7	1.55	0.22356	0.526000	0.22680	0.951000	0.22923	0.676000	0.76740	0.531000	0.27197	0.039000	0.21534	0.958000	0.51230	0.2692:0.0:0.7308:0.0	8.520	0.32428	900	0.24599	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017641	0.005051	0.019074	0.035088	0.050000	0.051724	0.003067	0.015152	0.1	3474.14	36	chr17	80048756	.	G	C	3474.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.113;DP=631;ExcessHet=0.2348;FS=0.406;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=1.13;SOR=0.652	GT:AD:DP:GQ:PL	0/1:92,85:177:99:1988,0,2321	8	0	2	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	1/1:0,165:165:99:5409,495,0	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	1/1:0,115:115:99:3579,345,0	1	7	2	0
chr18	34794117	34794117	A	G	exonic	DTNA	.	nonsynonymous SNV	DTNA:NM_001390:exon3:c.A229G:p.N77D,DTNA:NM_001391:exon3:c.A229G:p.N77D,DTNA:NM_001198941:exon4:c.A229G:p.N77D,DTNA:NM_032978:exon4:c.A229G:p.N77D,DTNA:NM_001128175:exon5:c.A229G:p.N77D,DTNA:NM_001198938:exon5:c.A229G:p.N77D,DTNA:NM_001198939:exon5:c.A229G:p.N77D,DTNA:NM_001198940:exon5:c.A229G:p.N77D,DTNA:NM_001198945:exon5:c.A229G:p.N77D,DTNA:NM_001392:exon5:c.A229G:p.N77D,DTNA:NM_032975:exon5:c.A229G:p.N77D,DTNA:NM_032979:exon5:c.A229G:p.N77D	Left ventricular noncompaction 1, with or without congenital heart defects, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	439168	not_specified|Left_ventricular_noncompaction_1|not_provided	MedGen:CN169374|MONDO:MONDO:0011403,MedGen:C1858725,OMIM:604169,Orphanet:54260|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	0.0233338786392	0.0002	.	0.0001	0	0	0.0001	0	0.0002	0.0011	0	9.7e-05	15	154602	rs147782267	7.046e-05	7.046e-05	8.167e-05	5.913e-05	5.039e-05	5.913e-05	5.522e-05	3.171e-05	2.836e-05	0	0	0.0017	5.039e-05	0	0	4.137e-05	0.0002	0	7.222e-05	7.218e-05	8.994e-05	5.37e-05	0.0002	3.968e-05	3.125e-05	1.972e-05	1.124e-05	0	0	0	0.0017	0.0002	0	0	5.88e-05	0	0	0.645	0.19430	T	0.044	0.49942	D	0.222	0.33382	B	0.149	0.34106	B	0.000382	0.44960	D	0.231515	0.841251	0.81001	D	0.46	0.12951	N	0.26	0.59314	T	-2.17	0.52612	N	0.495	0.56576	-0.9772	0.35638	T	0.109	0.39486	T	10	0.04596007	0.03728	T	0.023334	0.46295	T	0.062	0.17934	.	.	0.714675657368	0.71216	0.4403739408731822	0.43954	0.448870680343	0.44700	0.512057781219	0.40510	T	0.025455	0.66109	T	-0.245436	0.14663	T	-0.364626	0.37517	T	0.100253373632028	0.12385	T	0.952705	0.82322	D	0.25371623	0.48395	0.22237366	0.47080	0.25371623	0.48395	0.22237366	0.47079	-12.959	0.89589	D	0.12363571310111428	0.12010	0.180	0.45678	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.386569	0.46868	22.4	0.99134666671583571	0.53356	0.91995	0.54713	D	AEFDGBI	0.527684	0.54952	D	-0.212891744152622	0.32605	1.840543	-0.0175229851377776	0.38924	2.300237	0.999999797415097	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.644132	0.48003	0	0.613276	0.41899	0	.	.	5.43	5.43	0.79006	4.567000	0.60566	11.279000	0.91668	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.804000	0.37906	1.0:0.0:0.0:0.0	14.339	0.66170	577	0.69927	.;.;.;EF-hand domain, type 1;EF-hand domain, type 1;.;.;.;.;.;.;EF-hand domain, type 1;EF-hand domain, type 1;.;EF-hand domain, type 1;EF-hand domain, type 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1990.43	35	chr18	34794117	.	A	G	1990.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.139;DP=493;ExcessHet=0;FS=2.642;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.014;SOR=0.628	GT:AD:DP:GQ:PL	0/1:87,87:174:99:2002,0,2079	9	0	1	0
chr18	46477376	46477376	C	T	UTR3	LOXHD1	NM_001145473:c.*96G>A;NM_001384474:c.*96G>A;NM_144612:c.*96G>A	.	.	Deafness, autosomal recessive 77, Autosomal recessive	0	1512	9	1	0	11	0.00362438	.	.	.	331381	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_77	MedGen:C3661900|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00159744	.	.	.	.	.	.	.	.	0.0007115	110	154602	rs569671846	0.0048	0.0046	0.0047	0.0049	0.0051	0.0047	0.0046	0.0049	0.0049	0.0008	0.0011	0.0114	2.82e-05	0.0033	0.0033	0.0050	0.0050	0.0051	0.0041	0.0041	0.0044	0.0038	0.0071	0.0038	0.0037	0.0066	0.0064	0.0006	0	0.0010	0.0132	0	0.0024	0.0068	0.0071	0.0033	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	252.43	31	chr18	46477376	.	C	T	252.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.537;DP=260;ExcessHet=0;FS=3.741;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.298;SOR=1.349	GT:AD:DP:GQ:PL	0/1:15,9:24:99:264,0,432	9	0	1	0
chr18	46533293	46533293	C	T	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001308013:exon8:c.G623A:p.R208Q,LOXHD1:NM_001145472:exon10:c.G911A:p.R304Q,LOXHD1:NM_001384474:exon28:c.G4244A:p.R1415Q,LOXHD1:NM_144612:exon28:c.G4244A:p.R1415Q	Deafness, autosomal recessive 77, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	756467	not_provided|LOXHD1-related_disorder|Inborn_genetic_diseases|Autosomal_recessive_nonsyndromic_hearing_loss_77	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.422	0.0773955985352	0.0007	0.000399361	0.0003	0.0025	0	0	0	0	0	0	7.76e-05	12	154602	rs374728484	6.645e-05	6.362e-05	6.627e-05	6.664e-05	0.0023	5.53e-05	5.129e-05	0.0019	0.0017	0.0023	0.0001	0	8.394e-05	0	0	1.854e-06	0.0002	0	0.0007	0.0007	0.0006	0.0008	0.0024	0.0006	0.0005	0.0020	0.0018	0.0024	0	0.0003	0	0	0	0	0	0.0009	0.0002	0.018	0.58626	D	0.008	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.003714	0.34585	N	0.296966	0.996829	0.43441	D	.	.	.	-0.16	0.65378	T	-3.04	0.62863	D	0.479	0.54671	-0.2249	0.77021	T	0.431	0.77251	T	10	0.042151928	0.02938	T	0.077396	0.72761	D	0.422	0.73078	.	.	0.350088858571	0.34617	0.7385305804961996	0.73798	.	.	0.593587875366	0.52000	T	0.06482	0.32531	T	-0.310801	0.07679	T	-0.225079	0.52247	T	0.179427893704415	0.19199	T	0.963904	0.92384	D	0.14613418	0.33468	0.17977802	0.40734	0.14613418	0.33467	0.17977802	0.40733	-11.234	0.80925	D	.	.	0.301	0.59398	B	.;.;.;.;.;.	.;.;.;.;.;.	5.267804	0.88451	29.6	0.99298319788728595	0.58541	0.95188	0.63763	D	AEFBI	0.777791	0.71049	D	0.735772273073473	0.81976	7.650053	0.705401688450861	0.82790	7.854872	0.999821045946097	0.43622	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.48	5.48	0.80675	5.824000	0.68964	7.631000	0.62734	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.9254:0.0:0.0746	13.624	0.61621	946	0.12043	PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1353.43	33	chr18	46533293	.	C	T	1353.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.119;DP=415;ExcessHet=0;FS=2.625;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.435;SOR=0.446	GT:AD:DP:GQ:PL	0/1:49,58:107:99:1365,0,1088	9	0	1	0
chr19	6684412	6684412	G	T	exonic	C3	.	nonsynonymous SNV	C3:NM_000064:exon33:c.C4148A:p.T1383N	C3 deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	622120	Age_related_macular_degeneration_9|Atypical_hemolytic-uremic_syndrome_with_C3_anomaly|Complement_component_3_deficiency|not_provided	MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925,Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779,Orphanet:280133|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.090	0.0355977832293	7.7e-05	.	9.06e-05	0	0	0	0.0002	0.0001	0	0.0002	7.12e-05	11	154602	rs139100972	0.0001	0.0001	0.0001	0.0001	0.0003	9.334e-05	8.818e-05	0.0002	0.0002	2.987e-05	0.0003	0	0	1.872e-05	0	0.0001	9.935e-05	0.0002	0.0001	0.0001	0.0001	0.0001	0.0005	6.51e-05	5.322e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	0.0001	0	0	0.036	0.43393	D	0.306	0.40110	T	0.267	0.31683	B	0.328	0.42011	B	0.745233	0.09744	N	0.889824	1	0.08975	N	2.72	0.79541	M	1.51	0.30937	T	-1.62	0.38924	N	0.768	0.76573	-0.9295	0.44212	T	0.114	0.40627	T	10	0.07993618	0.12917	T	0.035598	0.56449	D	0.090	0.26093	.	.	0.383278103999	0.37944	0.654829751042006	0.65418	0.893539204681	0.70324	0.365060985088	0.20120	T	0.111076	0.42628	T	-0.476637	0.00774	T	-0.594472	0.13281	T	0.0744952192898771	0.09267	T	0.723828	0.33737	T	0.11335231	0.26772	0.10496659	0.25223	0.122153655	0.28711	0.12852927	0.30920	-7.124	0.54933	T	0.5881665006178586	0.65495	0.393	0.61623	A	.;.	.;.	1.429961	0.18479	13.76	0.92197123050211582	0.21566	0.15785	0.19080	N	AEFDBCI	0.437231	0.49712	N	-0.795294492064554	0.13432	0.6616512	-0.89075522230061	0.12312	0.632604	0.984899966926433	0.30793	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.05	1.59	0.22622	0.423000	0.21032	1.723000	0.28273	-1.075000	0.01584	0.001000	0.13787	0.006000	0.19429	0.471000	0.28363	0.0:0.4702:0.5298:0.0	13.211	0.59251	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1170.43	33	chr19	6684412	.	G	T	1170.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.83;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=1.17;SOR=0.632	GT:AD:DP:GQ:PL	0/1:50,42:92:99:1182,0,1361	9	0	1	0
chr19	38483276	38483276	C	G	intronic	RYR1	.	.	.	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2876663	Malignant_hyperthermia,_susceptibility_to,_1|RYR1-related_disorder	MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|MedGen:CN239331	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs371783666	3.052e-05	3.01e-05	2.526e-05	3.59e-05	6.182e-05	2.3e-05	2.044e-05	2.811e-05	2.53e-05	6.182e-05	0	0	0	0	0	3.779e-05	0	0	1.314e-05	1.313e-05	0	2.691e-05	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1752.43	33	chr19	38483276	.	C	G	1752.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.998;DP=417;ExcessHet=0;FS=0.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=-0.015;SOR=0.831	GT:AD:DP:GQ:PL	0/1:39,63:102:99:1764,0,901	9	0	1	0
chr19	45496962	45496962	-	GCCGCC	UTR5	RTN2	NM_206900:c.-138_-137insGGCGGC;NM_005619:c.-138_-137insGGCGGC	.	.	Spastic paraplegia 12, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1241810	Hereditary_spastic_paraplegia|not_provided	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003112	81	26028	rs1400564712	0.0703	0.0742	0.0653	0.0746	0.1231	0.0693	0.0689	0.1135	0.1098	0.0668	0.0437	0.0460	0.0511	0.0660	0.0986	0.0733	0.0671	0.1231	0.1334	0.1333	0.1338	0.1329	0.2089	0.1318	0.1312	0.1981	0.1938	0.1545	0.1548	0.0983	0.0868	0.0767	0.1017	0.1844	0.1333	0.1439	0.2089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	702.97	10	chr19	45496962	.	A	AGCCGCC	702.97	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0;DP=78;ExcessHet=0.6204;FS=3.524;InbreedingCoeff=0.0043;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=23.43;ReadPosRankSum=1.28;SOR=1.721	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	8	1	1	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	0/1:23,20:43:99:497,0,616	2	4	4	0
chr20	3234173	3234173	T	G	exonic	SLC4A11	.	synonymous SNV	SLC4A11:NM_032034:exon4:c.A481C:p.R161R,SLC4A11:NM_001174089:exon5:c.A433C:p.R145R,SLC4A11:NM_001174090:exon5:c.A562C:p.R188R,SLC4A11:NM_001363745:exon5:c.A433C:p.R145R	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	0	589	691	242	0	1175	0.499363	.	.	YES	257346	not_provided|Corneal_dystrophy-perceptive_deafness_syndrome|not_specified|Corneal_dystrophy|Congenital_hereditary_endothelial_dystrophy_of_cornea	MedGen:C3661900|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orphanet:293603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4809	0.479832	0.4365	0.6500	0.4606	0.5707	0.5076	0.4051	0.4592	0.3121	0.0001537	4	26028	rs3827075	0.4110	0.4110	0.4142	0.4077	0.6526	0.4101	0.4098	0.6453	0.6423	0.6526	0.4601	0.3812	0.5478	0.5051	0.3844	0.3997	0.4275	0.3151	0.4855	0.4856	0.4826	0.4886	0.6474	0.4826	0.4814	0.6409	0.6382	0.6474	0.4582	0.4720	0.3725	0.5688	0.5216	0.3596	0.3968	0.4409	0.3309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.392246	0.474747	0.387228	0.353801	0.250000	0.379310	0.420732	0.363636	0.35	18342.9	238	chr20	3234173	.	T	G	18342.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.381;DP=1528;ExcessHet=1.4371;FS=0;InbreedingCoeff=-0.0989;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.428;SOR=0.646	GT:AD:DP:GQ:PL	0/1:110,100:210:99:2317,0,2833	4	1	5	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	1/1:0,3:3:9:123,9,0	4	5	0	1
chr22	18918451	18918451	C	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon11:c.G968A:p.R323H,LOC102724788:NM_001368249:exon11:c.G1292A:p.R431H,LOC102724788:NM_001368250:exon11:c.G968A:p.R323H,PRODH:NM_016335:exon11:c.G1292A:p.R431H	.	1	1322	185	14	0	213	0.0745537	.	.	YES	19050	not_specified|Proline_dehydrogenase_deficiency|Schizophrenia_4	MedGen:CN169374|MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MONDO:MONDO:0010943,MedGen:C1833247,OMIM:600850	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.145	.	0.0816	0.0429313	0.0794	0.0387	0.0503	0.0009	0.0537	0.1113	0.0870	0.0471	0.0744363	11508	154602	rs2904552	0.1027	0.1011	0.1062	0.0995	0.1480	0.1014	0.1009	0.1458	0.1449	0.0328	0.0685	0.1381	0.0006	0.0682	0.1018	0.1480	0.1109	0.0519	0.0509	0.0963	0.0519	0.0496	0.0957	0.0460	0.0441	0.0841	0.0797	0.0216	0.5000	0.0466	0.0789	0	0.0414	0.0370	0.0957	0.0625	0.0271	0.004	0.65419	D	0.032	0.53426	D	0.945	0.53279	P	0.408	0.44733	B	0.000345	0.45440	N	0.229694	0.999478	0.47197	A	.	.	.	1.31	0.35405	T	-3.25	0.66206	D	0.158	0.20129	-1.1817	0.00345	T	0.006	0.01981	T	10	0.0036971867	0.00068	T	.	.	.	0.145	0.38592	.	.	.	.	0.6217227933177322	0.62105	0.435677157202	0.43665	0.409796655178	0.26428	T	0.083212	0.37003	T	-0.547933	0.00300	T	-0.463128	0.26258	T	0.0329422262464058	0.02462	T	0.885311	0.61048	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.06525	B	.;.;.;.	.;.;.;.	2.691791	0.35142	19.82	0.99849403335407028	0.92925	0.80218	0.39914	D	AEFDGBI	0.380323	0.46301	N	0.0207175707020348	0.42797	2.585497	-0.030060004355919	0.38363	2.259183	0.940988181924042	0.27456	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.49	1.16	0.19936	1.447000	0.34712	0.795000	0.21604	-0.775000	0.03392	1.000000	0.71638	0.999000	0.35428	0.015000	0.10482	0.0:0.7169:0.0:0.2831	8.739	0.33706	923	0.18507	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain	.	.	.	.	rs2904552	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	0.100000	0.096939	0.119891	0.088235	0.111111	0.129310	0.088608	0.080769	0.15	4827.45	38	chr22	18918451	.	C	T	4827.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.29;DP=634;ExcessHet=0.7463;FS=3.934;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.3;MQRankSum=-3.767;QD=12.64;ReadPosRankSum=0.556;SOR=0.901	GT:AD:DP:GQ:PL	0/1:88,64:152:99:1607,0,2092	7	0	3	0
chr22	41926277	41926277	C	A	exonic	TNFRSF13C	.	nonsynonymous SNV	TNFRSF13C:NM_052945:exon2:c.G191T:p.G64V	Immunodeficiency, common variable, 4, Autosomal recessive	14	1482	25	1	0	27	0.00902708	.	.	.	433978	not_provided|Immunodeficiency,_common_variable,_4	MedGen:C3661900|MONDO:MONDO:0013284,MedGen:C3150739,OMIM:613494,Orphanet:1572	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.030	.	.	0.00199681	0.0072	0.0045	0	0	0.0385	0.0190	0.0111	0.0031	0.0015524	240	154602	rs547352394	0.0107	0.0100	0.0109	0.0105	0.0180	0.0106	0.0105	0.0148	0.0136	0.0026	0.0029	0.0081	0	0.0112	0.0180	0.0121	0.0085	0.0024	0.0071	0.0071	0.0077	0.0065	0.0119	0.0068	0.0066	0.0112	0.0110	0.0019	0.0296	0.0020	0.0086	0.0002	0.0059	0.0548	0.0119	0.0076	0.0021	0.059	0.37536	T	0.007	0.69154	D	0.011	0.15914	B	0.008	0.13708	B	0.716831	0.06290	N	1.197160	0.99991	0.19694	N	1.795	0.47270	L	1.54	0.30133	T	-5.08	0.82896	D	0.329	0.36989	-1.0025	0.29197	T	0.046	0.19559	T	10	0.0050999224	0.00110	T	.	.	.	0.030	0.07022	.	.	0.043077524339	0.03247	0.21823140091659454	0.21739	2.12773366393	0.95105	0.886562466621	0.94825	D	0.436239	0.78270	T	-0.611609	0.00124	T	-0.638987	0.09743	T	0.0436186475804897	0.04351	T	0.466353	0.13696	T	0.24082784	0.46990	0.2816598	0.54149	0.24082784	0.46990	0.2816598	0.54148	-4.531	0.31292	T	.	.	0.176	0.38534	B	.	.	3.422904	0.47532	22.5	0.98457614893853174	0.41699	0.48203	0.28154	N	ALL	0.068657	0.13554	N	-0.818823518578959	0.12829	0.6279373	-0.812902956999267	0.14183	0.7397709	0.999999999999692	0.74766	0.623204	0.39778	0	0.52208	0.09955	0	0.378051	0.06126	2	0.603991	0.37454	0	.	.	3.16	0.969	0.18805	0.300000	0.18911	2.272000	0.31837	0.446000	0.21189	0.000000	0.06391	0.387000	0.24645	0.189000	0.21571	0.2398:0.6279:0.0:0.1322	3.756	0.08111	130	0.94779	.	RP1-257I20.14|NDUFA6|NDUFA6|NDUFA6|NDUFA6|NDUFA6|NDUFA6|NDUFA6|NDUFA6|TNFRSF13C|NDUFA6|NDUFA6|NDUFA6|TNFRSF13C|NDUFA6	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Colon_Sigmoid|Colon_Transverse|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood|Whole_Blood	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020394	0.005435	0.027363	0.044643	0.000000	0.040541	0.003788	0.020202	0.05	582.43	31	chr22	41926277	.	C	A	582.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.363;DP=224;ExcessHet=0;FS=1.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.57;ReadPosRankSum=0.391;SOR=0.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,15:27:99:0|1:41926276_G_A:594,0,458:41926276	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|1:64,56:120:99:0|1:43928847_C_G:2118,0,2515:43928847	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	0/1:74,70:144:99:1665,0,1980	0	3	7	0
chrX	31121430	31121430	G	A	UTR3	DMD	NM_004016:c.*403C>T;NM_004018:c.*403C>T;NM_004017:c.*489C>T;NM_004006:c.*489C>T;NM_004011:c.*489C>T;NM_004012:c.*489C>T;NM_004015:c.*489C>T;NM_004021:c.*403C>T;NM_004023:c.*403C>T;NM_000109:c.*489C>T;NM_004020:c.*489C>T;NM_004009:c.*489C>T;NM_004022:c.*403C>T;NM_004014:c.*489C>T;NM_004013:c.*489C>T;NM_004010:c.*489C>T	.	.	Becker muscular dystrophy, X-linked recessive;Cardiomyopathy, dilated, 3B, X-linked;Duchenne muscular dystrophy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	903015	Dilated_cardiomyopathy_3B|not_provided	MONDO:MONDO:0010542,MedGen:C3668940,OMIM:302045,Orphanet:154|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000794702	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs45549534	0.0011	0.0006	0.0012	0.0011	0.0015	0.0007	0.0005	0.0008	0.0006	0	0	0	0	0.0014	0	0.0015	0.0017	0	0.0013	0.0012	0.0013	0.0012	0.0024	0.0011	0.0010	0.0020	0.0019	0.0003	0	0	0	0	0	0	0.0024	0.0008	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	83.97	.	chrX	31121430	.	G	A	83.97	.	AC=2;AF=0.5;AN=4;DP=5;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.75;MQ=60;QD=27.99;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:90,9,0	1	1	0	8
chrX	129540739	129540739	C	T	splicing	OCRL	NM_001318784:exon2:c.40-2C>T	.	.	Dent disease 2, X-linked recessive;Lowe syndrome, X-linked recessive	.	.	.	.	.	.	.	.	.	.	208866	not_specified|Nephrolithiasis/nephrocalcinosis|Lowe_syndrome|not_provided	MedGen:CN169374|MedGen:CN580796|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000,Orphanet:534|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0004	0.0013245	0.0002	0.0024	0.0001	0	0	0	0	0	0.0002393	37	154602	rs201211377	0.0001	0.0001	0.0001	0.0001	0.0039	0.0001	0.0001	0.0033	0.0030	0.0039	0	0	0	0	0.0015	1.671e-05	0.0005	0	0.0008	0.0009	0.0008	0.0008	0.0029	0.0007	0.0006	0.0024	0.0022	0.0029	0	0.0002	0	0	0	0	0	0.0007	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1730.12	33	chrX	129540739	.	C	T	1730.12	.	AC=2;AF=0.1;AN=20;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.32;SOR=1.421	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1753,177,0	9	1	0	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	0/1:29,8:39:74:74,0,708	4	0	6	0