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	NSWES951	WT	HH	HZ	NC
chr1	55052712	55052712	C	T	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon5:c.C720T:p.G240G	Hypercholesterolemia, familial, 3	0	1504	17	0	1	18	0.00561983	.	.	.	238334	Hypobetalipoproteinemia|Cardiovascular_phenotype|Familial_hypercholesterolemia|not_provided|Hypercholesterolemia,_autosomal_dominant,_3|Hypercholesterolemia,_familial,_1|not_specified	MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MedGen:CN230736|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0048	0.00738818	0.0054	0.0085	0.0035	0.0001	0.0002	0.0036	0.0057	0.0169	0.0049482	765	154602	rs41297883	0.0045	0.0045	0.0041	0.0049	0.0172	0.0044	0.0044	0.0165	0.0162	0.0098	0.0041	0.0012	7.557e-05	0.0004	0.0029	0.0038	0.0047	0.0172	0.0054	0.0054	0.0054	0.0054	0.0209	0.0051	0.0050	0.0176	0.0164	0.0094	0	0.0046	0.0026	0	0.0002	0.0068	0.0035	0.0043	0.0209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	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	0.004028	0.005051	0.005435	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	1459.33	58	chr1	55052712	.	C	T	1459.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.539;DP=1296;ExcessHet=0;FS=3.296;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=0.493;SOR=1.015	GT:AD:DP:GQ:PL	0/1:59,62:121:99:1473,0,1401	18	0	1	0
chr1	55057360	55057360	A	G	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q	Hypercholesterolemia, familial, 3	1	0	1	1520	0	3041	1	.	.	.	249989	Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_3|Hypercholesterolemia,_familial,_1|not_provided|not_specified|Cardiovascular_phenotype|Hypobetalipoproteinemia	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9797	0.981829	0.9945	0.9420	0.9982	1	0.9997	0.9996	0.9956	0.9999	0.969172	149836	154602	rs509504	0.9983	0.9983	0.9981	0.9986	1.0000	0.9970	0.9964	0.9984	0.9977	0.9410	0.9968	1.0000	1.0000	1.0000	0.9984	0.9999	0.9967	0.9998	0.9835	0.9835	0.9830	0.9841	1.0000	0.9794	0.9776	0.9936	0.9910	0.9422	1.0000	0.9956	1.0000	1.0000	1.0000	0.9966	0.9999	0.9877	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.994965	0.974747	0.994565	0.997076	1.000000	1.000000	0.996951	1.000000	1.0	102349.0	197	chr1	55057360	.	A	G	102349.0	.	AC=38;AF=1;AN=38;BaseQRankSum=2;DP=3350;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=38;MLEAF=1;MQ=60;MQRankSum=0;QD=31.41;ReadPosRankSum=1.31;SOR=0.251	GT:AD:DP:GQ:PL	1/1:0,157:157:99:4782,471,0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	16785.1	32	chr1	89054646	.	GAAAAAC	G	16785.1	.	AC=22;AF=0.579;AN=38;BaseQRankSum=0.619;DP=717;ExcessHet=0.0637;FS=0;InbreedingCoeff=0.3523;MLEAC=22;MLEAF=0.579;MQ=59.94;MQRankSum=0;QD=32.09;ReadPosRankSum=0.749;SOR=0.642	GT:AD:DP:GQ:PL	1/1:0,49:49:99:2135,148,0	5	8	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	10952.6	16	chr1	92478757	.	C	CAGAG	10952.6	.	AC=5;AF=0.139;AN=36;BaseQRankSum=0.609;DP=877;ExcessHet=0.3441;FS=1.223;InbreedingCoeff=-0.0208;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=32.6;ReadPosRankSum=0.395;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:1,7:22:99:.:.:673,383,405:.	13	0	5	1
chr1	94010911	94010911	T	A	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon40:c.A5603T:p.N1868I	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	0	1394	119	9	0	137	0.0468376	.	.	YES	105279	Age_related_macular_degeneration_2|Retinal_dystrophy|Stargardt_disease|Cone-rod_dystrophy_3|Severe_early-childhood-onset_retinal_dystrophy|ABCA4-related_retinopathy|Macular_degeneration|Retinitis_pigmentosa|ABCA4-related_disorder|Stargardt_Disease,_Recessive|Retinitis_Pigmentosa,_Recessive|Cone-Rod_Dystrophy,_Recessive|not_provided|not_specified	MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orphanet:1872|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827|MONDO:MONDO:0800406,MedGen:CN322612|Human_Phenotype_Ontology:HP:0000608,Human_Phenotype_Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN239167|MedGen:CN239312|MedGen:CN239466|MedGen:CN239309|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.402	.	0.0477	0.0207668	0.0446	0.0105	0.0248	0	0.0411	0.0657	0.0420	0.0192	0.045394	7018	154602	rs1801466	0.0574	0.0574	0.0583	0.0565	0.0674	0.0571	0.0569	0.0670	0.0668	0.0086	0.0224	0.0319	5.038e-05	0.0402	0.0447	0.0674	0.0465	0.0190	0.0404	0.0403	0.0427	0.0380	0.0663	0.0395	0.0392	0.0647	0.0641	0.0112	0.0581	0.0261	0.0340	0	0.0406	0.0544	0.0663	0.0347	0.0160	0.001	0.78490	D	0.011	0.69154	D	0.459	0.36338	P	0.175	0.35598	B	0.002461	0.36537	N	0.321128	0.999788	0.81001	D	2.415	0.69758	M	-2.88	0.91533	D	-4.91	0.81595	D	0.209	0.51672	0.661	0.92685	D	0.728	0.90701	D	10	0.0069182813	0.00157	T	.	.	.	0.402	0.71558	.	.	.	.	0.7971400618589359	0.79667	0.412325355486	0.41975	0.317802816629	0.13088	T	0.671782	0.93558	D	-0.266919	0.12103	T	-0.103538	0.63123	T	0.0502051629063343	0.05536	T	0.887111	0.61484	D	0.74764305	0.80732	0.70142317	0.82406	0.7912946	0.83356	0.7233697	0.83664	-9.325	0.69763	D	.	.	0.216	0.45433	B	.;.	.;.	2.915032	0.38680	20.8	0.9199950111978572	0.21334	0.97269	0.73696	D	AEFBI	0.603337	0.59485	D	0.0262651168874368	0.43051	2.605779	-0.0309068510218861	0.38327	2.256456	0.999999997282578	0.74766	0.516011	0.20929	0	0.563428	0.19063	0	0.563428	0.18855	0	0.586402	0.36253	0	.	.	4.76	4.76	0.60189	3.423000	0.52517	2.833000	0.35033	0.609000	0.47794	0.992000	0.37556	0.996000	0.32793	0.175000	0.21139	0.0:0.0:0.0:1.0	14.708	0.68820	398	0.82839	.;.	TMED5	Testis	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.039315	0.020202	0.035326	0.038012	0.050000	0.051724	0.070552	0.026515	0.02632	2702.33	44	chr1	94010911	.	T	A	2702.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.628;DP=1129;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.386;SOR=0.741	GT:AD:DP:GQ:PL	0/1:87,111:198:99:2716,0,2056	18	0	1	0
chr1	109608722	109608722	C	T	exonic	GNAT2	.	nonsynonymous SNV	GNAT2:NM_005272:exon4:c.G370A:p.V124M,GNAT2:NM_001377295:exon5:c.G370A:p.V124M,GNAT2:NM_001379232:exon5:c.G370A:p.V124M	Achromatopsia 4	0	1512	9	1	0	11	0.00362438	.	.	.	194412	GNAT2-related_disorder|Retinal_dystrophy|not_specified|not_provided|Achromatopsia_4	.|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013465,MedGen:C1841721,OMIM:613856,Orphanet:49382	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.335	0.0446554630595	0.0045	0.00259585	0.0054	0.0009	0.0021	0	0.0032	0.0075	0.0066	0.0061	0.0055821	863	154602	rs41280330	0.0069	0.0069	0.0070	0.0069	0.0079	0.0068	0.0068	0.0077	0.0077	0.0010	0.0022	0.0036	0	0.0042	0.0059	0.0079	0.0067	0.0061	0.0044	0.0044	0.0045	0.0043	0.0075	0.0041	0.0040	0.0065	0.0063	0.0012	0	0.0032	0.0020	0.0004	0.0030	0	0.0071	0.0043	0.0075	0.046	0.40573	D	0.065	0.44702	T	0.99	0.63424	D	0.738	0.55619	P	0.005516	0.32736	N	0.287924	0.868387	0.35516	D	1.63	0.41750	L	-2.43	0.88689	D	-0.41	0.14000	N	0.426	0.46555	0.530	0.90961	D	0.714	0.90196	D	10	0.008829892	0.00200	T	0.044655	0.61597	D	0.335	0.65718	.	.	0.921974883161	0.92118	0.8104456628994533	0.80999	0.354423072536	0.37217	0.497574865818	0.38490	T	0.423673	0.77435	T	-0.23169	0.16426	T	-0.096188	0.63691	T	0.0494856905650249	0.05409	T	0.973003	0.90263	D	0.19789441	0.41672	0.24691439	0.50211	0.18797	0.40274	0.24691439	0.50210	-5.791	0.44496	T	0.2074948243035606	0.27734	0.243	0.47697	B	.	.	4.155617	0.62368	24.4	0.99895602382781312	0.96895	0.91798	0.54285	D	AEFBI	0.437475	0.49726	N	0.562450296784154	0.70845	5.56152	0.525014713537541	0.69678	5.394781	0.99998920776304	0.51787	0.421363	0.06395	0	0.550933	0.16991	0	0.491513	0.07944	0	0.664235	0.64389	0	.	.	4.69	4.69	0.58546	2.020000	0.40630	7.667000	0.64568	0.599000	0.40250	0.897000	0.31356	1.000000	0.68203	0.842000	0.39752	0.0:1.0:0.0:0.0	17.774	0.88411	851	0.35303	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.002717	0.014620	0.000000	0.000000	0.000000	0.003788	0.05263	4667.83	38	chr1	109608722	.	C	T	4667.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.22;DP=1007;ExcessHet=0.119;FS=0.369;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.473;SOR=0.655	GT:AD:DP:GQ:PL	0/1:94,83:177:99:2021,0,2203	17	0	2	0
chr1	156176392	156176392	C	G	intronic	SEMA4A	.	.	.	Cone-rod dystrophy 10, Autosomal recessive;Retinitis pigmentosa 35, Autosomal recessive, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	276624	not_provided|Retinitis_pigmentosa|Retinitis_Pigmentosa,_Recessive|not_specified|Cone-rod_dystrophy_10	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN239466|MedGen:CN169374|MONDO:MONDO:0012464,MedGen:C1846529,OMIM:610283,Orphanet:1872	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0003	0.000399361	0.0010	0	0.0001	0	0.0002	0.0007	0	0.0045	0.000718	111	154602	rs144540956	0.0005	0.0005	0.0003	0.0006	0.0043	0.0005	0.0004	0.0039	0.0038	3.014e-05	2.241e-05	0.0013	0	0.0001	0.0014	0.0002	0.0005	0.0043	0.0003	0.0003	0.0002	0.0004	0.0029	0.0002	0.0002	0.0018	0.0014	2.408e-05	0	0	0.0006	0	0.0002	0	0.0004	0	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	746.33	33	chr1	156176392	.	C	G	746.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=693;ExcessHet=0;FS=1.4;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.96;ReadPosRankSum=-0.35;SOR=1.133	GT:AD:DP:GQ:PL	0/1:17,27:44:99:760,0,390	18	0	1	0
chr1	158668076	158668078	AAA	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	276726	not_provided|Spherocytosis,_Recessive|Pyropoikilocytosis,_hereditary|Elliptocytosis	MedGen:C3661900|MedGen:CN239472|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.261382	0.2751	0.1818	0.3209	0.3391	0.3421	0.2907	0.2962	0.1744	0.0001537	4	26028	rs140998442	0.2835	0.2762	0.2874	0.2795	0.3211	0.2827	0.2824	0.3164	0.3145	0.1824	0.3211	0.3004	0.3201	0.3428	0.3048	0.2886	0.2864	0.1756	0.3122	0.3051	0.3058	0.3190	0.4553	0.3097	0.3087	0.4394	0.4329	0.1942	0.4510	0.3960	0.3610	0.4553	0.4283	0.3444	0.3419	0.3398	0.2111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	18811.2	56	chr1	158668075	.	GAAA	G	18811.2	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.476;DP=1409;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.52;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=18.72;ReadPosRankSum=-0.025;SOR=0.659	GT:AD:DP:GQ:PL	0/1:12,26:44:99:1116,0,406	10	0	9	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	0.4737	32470.2	115	chr1	169529737	.	T	C	32470.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.57;DP=1823;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.3667;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=21.29;ReadPosRankSum=-0.598;SOR=0.71	GT:AD:DP:GQ:PL	0/1:68,64:132:99:1500,0,1610	7	6	6	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	0.3947	49275.7	126	chr1	169542517	.	T	C	49275.7	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.214;DP=2812;ExcessHet=0.0178;FS=2.037;InbreedingCoeff=0.4493;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=22.63;ReadPosRankSum=-0.549;SOR=0.518	GT:AD:DP:GQ:PL	0/1:107,119:226:99:3291,0,2856	9	5	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	.	.	.	.	.	.	.	.	0.6053	27495.8	67	chr1	179889309	.	G	A	27495.8	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.264;DP=1439;ExcessHet=0.233;FS=0;InbreedingCoeff=0.229;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=21.62;ReadPosRankSum=-0.651;SOR=0.736	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2494,246,0	4	8	7	0
chr1	196743447	196743447	T	C	intronic	CFH	.	.	.	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	2	810	709	1	0	711	0.305019	0	0.028	.	865078	Age_related_macular_degeneration_4|Basal_laminar_drusen|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|not_specified|Atypical_hemolytic-uremic_syndrome|not_provided	MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:CN169374|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2585	0.2335	0.3236	0.3530	0.2551	0.2478	0.2636	0.2241	0.0001035	16	154602	rs513699	0.0899	0.2501	0.0919	0.0878	0.1935	0.0893	0.0891	0.1884	0.1864	0.0730	0.1344	0.0955	0.1935	0.1086	0.0549	0.0875	0.0860	0.0598	0.0293	0.1436	0.0285	0.0300	0.0485	0.0284	0.0280	0.0448	0.0434	0.0296	0.0038	0.0485	0.0263	0.0478	0.0280	0.0084	0.0251	0.0321	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	11863.2	279	chr1	196743447	.	T	C	11863.2	.	AC=8;AF=0.211;AN=38;BaseQRankSum=2.21;DP=2476;ExcessHet=4.0268;FS=6.012;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=57.5;MQRankSum=-15.45;QD=5.68;ReadPosRankSum=-2.013;SOR=1.37	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,51:239:99:0|1:196743447_T_C:1573,0,7640:196743447	11	0	8	0
chr1	212897349	212897349	-	ACAC	UTR3	FLVCR1	NM_014053:c.*2059_*2060insACAC	.	.	Ataxia, posterior column, with retinitis pigmentosa, Autosomal recessive	1218	248	11	45	0	101	0.169179	.	.	.	280300	Posterior_column_ataxia-retinitis_pigmentosa_syndrome	MONDO:MONDO:0012177,MedGen:C1836916,OMIM:609033,Orphanet:88628	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.255591	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs139242973	0.0139	0.0084	0	0.0167	0.0152	0	0	.	.	0	.	.	.	.	.	0.0152	0	.	0.2052	0.2032	0.2026	0.2080	0.3738	0.2033	0.2025	0.3656	0.3622	0.1629	0.3634	0.3738	0.3073	0.3457	0.1403	0.2345	0.1773	0.2655	0.2648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2188	567.95	1	chr1	212897349	.	T	TACAC	567.95	.	AC=7;AF=0.219;AN=32;BaseQRankSum=1.38;DP=52;ExcessHet=0.0008;FS=0;InbreedingCoeff=0.3835;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=27.05;ReadPosRankSum=0.328;SOR=0.818	GT:AD:DP:GQ:PL	0/1:4,3:7:99:114,0,159	11	2	3	3
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	73654.4	149	chr1	226735804	.	G	T	73654.4	.	AC=38;AF=1;AN=38;BaseQRankSum=1.84;DP=2228;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=38;MLEAF=1;MQ=60;MQRankSum=0;QD=33.85;ReadPosRankSum=1.53;SOR=0.402	GT:AD:DP:GQ:PL	1/1:0,130:130:99:4230,390,0	0	19	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7981.5	40	chr1	236897645	.	CT	C	7981.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.177;DP=1587;ExcessHet=22.3492;FS=0.549;InbreedingCoeff=-0.6784;MLEAC=18;MLEAF=0.474;MQ=59.99;MQRankSum=0;QD=7.76;ReadPosRankSum=0.087;SOR=0.638	GT:AD:DP:GQ:PL	0/1:30,34:69:99:713,0,530	2	2	15	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	12226.9	7	chr1	241500602	.	T	TGAGA	12226.9	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-0.478;DP=964;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.1668;MLEAC=12;MLEAF=0.333;MQ=59.98;MQRankSum=0;QD=31.68;ReadPosRankSum=-0.129;SOR=0.741	GT:AD:DP:GQ:PL	1/0:0,3:17:49:824,369,310	7	1	10	1
chr1	241500602	241500602	-	GAGAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	281943	Fumarase_deficiency|Hereditary_leiomyomatosis_and_renal_cell_cancer|not_provided|not_specified	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0104887	273	26028	rs144131869	0.1525	0.1590	0.1541	0.1509	0.1598	0.1519	0.1517	0.1592	0.1589	0.1416	0.1037	0.1260	0.1186	0.1150	0.1201	0.1598	0.1481	0.1335	0.2022	0.2027	0.2033	0.2011	0.2258	0.2002	0.1994	0.2227	0.2215	0.1753	0.1505	0.1884	0.1918	0.1716	0.1744	0.1889	0.2258	0.1997	0.2131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	12226.9	7	chr1	241500602	.	T	TGAGAGA	12226.9	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-0.478;DP=964;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.1668;MLEAC=8;MLEAF=0.222;MQ=59.98;MQRankSum=0;QD=31.68;ReadPosRankSum=-0.129;SOR=0.741	GT:AD:DP:GQ:PL	0/1:0,14:17:49:824,91,49	11	1	6	1
chr2	11784901	11784901	A	C	exonic	LPIN1	.	synonymous SNV	LPIN1:NM_001349201:exon9:c.A1266C:p.G422G,LPIN1:NM_145693:exon9:c.A1266C:p.G422G,LPIN1:NM_001261427:exon10:c.A1284C:p.G428G,LPIN1:NM_001349199:exon10:c.A1266C:p.G422G,LPIN1:NM_001349200:exon10:c.A1266C:p.G422G,LPIN1:NM_001349203:exon10:c.A1371C:p.G457G,LPIN1:NM_001349206:exon10:c.A1374C:p.G458G,LPIN1:NM_001349207:exon10:c.A1464C:p.G488G,LPIN1:NM_001349208:exon10:c.A1413C:p.G471G,LPIN1:NM_001261428:exon11:c.A1521C:p.G507G,LPIN1:NM_001349202:exon11:c.A1371C:p.G457G,LPIN1:NM_001349204:exon11:c.A1374C:p.G458G,LPIN1:NM_001349205:exon11:c.A1374C:p.G458G	Myoglobinuria, acute recurrent, autosomal recessive, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	284010	Myoglobinuria,_acute_recurrent,_autosomal_recessive|not_provided	MONDO:MONDO:0009992,MedGen:C1849386,OMIM:268200,Orphanet:99845|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	4.177e-05	0	0.0002	0	0	3.055e-05	0	6.061e-05	3.88e-05	6	154602	rs546979072	5.337e-05	5.336e-05	5.31e-05	5.364e-05	0.0009	4.344e-05	4.018e-05	0.0007	0.0006	0	0	0.0006	0.0009	0	0	1.799e-05	8.28e-05	3.478e-05	3.945e-05	3.938e-05	2.572e-05	5.381e-05	0.0004	1.716e-05	1.13e-05	7.327e-05	3.042e-05	0	0	0	0	0.0004	0	0	2.942e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.02632	1907.33	33	chr2	11784901	.	A	C	1907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.043;DP=1232;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=2.59;SOR=0.711	GT:AD:DP:GQ:PL	0/1:67,77:144:99:1921,0,1684	18	0	1	0
chr2	26280082	26280082	C	T	exonic	HADHB	.	synonymous SNV	HADHB:NM_001281512:exon9:c.C855T:p.Y285Y,HADHB:NM_000183:exon10:c.C900T:p.Y300Y,HADHB:NM_001281513:exon11:c.C834T:p.Y278Y	Trifunctional protein deficiency, Autosomal recessive	66	1455	1	0	0	1	0.000343525	.	.	YES	499884	Mitochondrial_trifunctional_protein_deficiency|not_provided	MONDO:MONDO:0012172,MedGen:C1969443,OMIM:PS609015,Orphanet:746|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0004	0.000998403	0.0006	9.621e-05	0.0003	0.0020	0.0017	0.0005	0	0.0005	0.0006015	93	154602	rs144093705	0.0013	0.0013	0.0013	0.0012	0.0057	0.0012	0.0012	0.0051	0.0049	0.0002	0.0004	0	0.0057	0.0015	0.0002	0.0013	0.0013	0.0004	0.0007	0.0007	0.0008	0.0006	0.0031	0.0006	0.0005	0.0019	0.0016	0.0001	0	6.536e-05	0	0.0031	0.0011	0	0.0010	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.02632	836.33	39	chr2	26280082	.	C	T	836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.302;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=-0.737;SOR=0.638	GT:AD:DP:GQ:PL	0/1:55,39:94:99:850,0,1264	18	0	1	0
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I	Cystinuria, Autosomal recessive, Autosomal dominant	1	171	630	720	0	2070	0.858209	.	.	YES	286486	not_provided|Cystinuria	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.154	.	0.5449	0.460863	0.5960	0.2701	0.4998	0.3221	0.5958	0.6811	0.6013	0.6676	0.0001153	3	26028	rs698761	0.6599	0.6598	0.6581	0.6617	0.6922	0.6588	0.6583	0.6909	0.6904	0.2617	0.5192	0.6836	0.3574	0.5978	0.6804	0.6922	0.6241	0.6645	0.5342	0.5341	0.5388	0.5294	0.6780	0.5311	0.5299	0.6728	0.6707	0.2722	0.7697	0.5563	0.6862	0.3140	0.5823	0.6327	0.6780	0.5629	0.6495	0.337	0.13306	T	0.352	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.120443	0.19034	N	0.561087	1	0.08975	P	0.77	0.19370	N	-5.33	0.98998	D	-0.38	0.14588	N	0.042	0.01577	-0.9028	0.47694	T	0.000	0.00011	T	9	3.6894764e-06	0.00003	T	.	.	.	0.154	0.40340	0.151	0.05441	.	.	0.49672446305566087	0.49593	0.00618125622596	0.00540	0.297892659903	0.10088	T	0.176151	0.52600	T	-0.514041	0.00476	T	-0.367341	0.37200	T	0.00255737995911959	0.00027	T	0.417558	0.11011	T	0.097282335	0.22928	0.0528911	0.08804	0.09387819	0.22060	0.044934988	0.05931	-5.288	0.41765	T	0.11960640390682445	0.11161	0.166	0.37858	B	.;.;.	.;.;.	0.347116	0.07205	3.796	0.66076431619722875	0.07954	0.23409	0.22066	N	AEFBHCI	0.149797	0.27396	N	-1.23159964899708	0.04548	0.2054851	-1.24033372092097	0.05276	0.2509822	0.0036214405344024	0.10207	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	-1.37	0.08582	-0.144000	0.10263	0.229000	0.16167	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.272000	0.23818	0.3431:0.3168:0.233:0.1071	2.100	0.03455	845	0.36510	.;.;.	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PPM1B	Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs698761	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.646632	0.560606	0.637228	0.608392	0.700000	0.698276	0.698171	0.674242	0.7105	59601.6	170	chr2	44320435	.	G	A	59601.6	.	AC=27;AF=0.711;AN=38;BaseQRankSum=-1.741;DP=2554;ExcessHet=0.5777;FS=2.192;InbreedingCoeff=0.1044;MLEAC=27;MLEAF=0.711;MQ=60;MQRankSum=0;QD=24.75;ReadPosRankSum=-0.248;SOR=0.901	GT:AD:DP:GQ:PL	1/1:0,127:127:99:4162,381,0	2	10	7	0
chr2	47806752	47806753	TT	-	intronic	MSH6	.	.	.	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	94983	not_specified|not_provided|Breast_and/or_ovarian_cancer|Lynch_syndrome_5	MedGen:CN169374|MedGen:C3661900|MedGen:CN221562|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1323	0.1439	0.1002	0.1406	0.1805	0.1444	0.1260	0.0985	0.0002305	6	26028	rs1491083972	0.0558	0.0746	0.0554	0.0562	0.0568	0.0555	0.0553	0.0554	0.0552	0.0568	0.0478	0.0707	0.0549	0.0678	0.0488	0.0558	0.0550	0.0492	0.0039	0.0046	0.0038	0.0039	0.0069	0.0036	0.0035	0.0049	0.0042	0.0027	0	0.0027	0.0024	0.0029	0.0042	0	0.0048	0.0026	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	11614.6	18	chr2	47806751	.	CTT	C	11614.6	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.128;DP=1833;ExcessHet=31.086;FS=0;InbreedingCoeff=-0.8095;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=0.104;SOR=0.734	GT:AD:DP:GQ:PL	1/0:7,21:85:99:1597,795,940	17	0	2	0
chr2	69326244	69326244	A	-	intronic	GFPT1	.	.	.	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	290634	Congenital_myasthenic_syndrome_12|not_provided|not_specified|Congenital_Myasthenic_Syndrome,_Recessive	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590|MedGen:C3661900|MedGen:CN169374|MedGen:CN239337	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.5003	0.5725	0.4843	0.3357	0.5331	0.5252	0.4928	0.4503	0.0001537	4	26028	rs201330278	0.4721	0.4795	0.4728	0.4714	0.5446	0.4710	0.4706	0.5371	0.5340	0.5446	0.4487	0.5008	0.2970	0.4755	0.5037	0.4796	0.4730	0.4329	0.6332	0.6282	0.6394	0.6266	0.7813	0.6298	0.6283	0.7741	0.7711	0.7813	0.6810	0.5747	0.6455	0.3023	0.5629	0.6418	0.5950	0.6144	0.5344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	14153.8	45	chr2	69326243	.	GA	G	14153.8	.	AC=22;AF=0.579;AN=38;BaseQRankSum=0.541;DP=1148;ExcessHet=0.5308;FS=0;InbreedingCoeff=0.1634;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=0.436;SOR=0.712	GT:AD:DP:GQ:PL	0/1:17,24:43:99:528,0,321	4	7	8	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	26989.6	33	chr2	73385903	.	T	TGGAGGA	26989.6	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.617;DP=903;ExcessHet=1.3;FS=3.645;InbreedingCoeff=-0.149;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=34.25;ReadPosRankSum=-0.523;SOR=1.337	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1482,107,0	13	1	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	5687.97	23	chr2	151546001	.	T	TA	5687.97	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-0.343;DP=1231;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=-0.185;SOR=0.727	GT:AD:DP:GQ:PL	1/0:2,12:36:99:690,318,270	3	0	16	0
chr2	151546001	151546001	-	AA	intronic	NEB	.	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	284391	not_specified|Nemaline_Myopathy,_Recessive	MedGen:CN169374|MedGen:CN239479	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1440	0.0604	0.1574	0.115	0.1876	0.1587	0.1786	0.1441	0.0003458	9	26028	rs762865768	0.2258	0.2310	0.2267	0.2250	0.2483	0.2249	0.2246	0.2429	0.2407	0.0953	0.2483	0.1663	0.2286	0.2610	0.2082	0.2370	0.2191	0.1566	0.2744	0.2754	0.2758	0.2730	0.3541	0.2721	0.2712	0.3503	0.3487	0.1258	0.1437	0.2926	0.2221	0.2815	0.3645	0.2993	0.3541	0.2795	0.2023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	5687.97	23	chr2	151546001	.	T	TAA	5687.97	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.343;DP=1231;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=-0.185;SOR=0.727	GT:AD:DP:GQ:PL	0/1:2,11:36:99:690,176,162	13	0	6	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	.	.	.	.	.	.	.	.	0.1667	1057.71	33	chr2	151680729	.	C	T	1057.71	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-4.359;DP=1767;ExcessHet=2.0135;FS=112.907;InbreedingCoeff=-0.2011;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=1.16;SOR=10.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,32:147:99:.:.:274,0,4049:.	12	0	6	1
chr2	162268086	162268086	C	T	splicing	IFIH1	NM_022168:exon14:c.2807+1G>A	.	.	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	425	1072	24	1	0	26	0.0119816	1.0000	0.938	YES	516567	Immunodeficiency_95|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0054	0.0061901	0.0071	0.0014	0.0039	0.0026	0.0017	0.0083	0.0093	0.0133	0.0068563	1060	154602	rs35732034	0.0089	0.0089	0.0087	0.0090	0.0206	0.0087	0.0087	0.0194	0.0189	0.0013	0.0031	0.0105	0.0206	0.0020	0.0071	0.0090	0.0079	0.0118	0.0054	0.0054	0.0059	0.0049	0.0101	0.0051	0.0050	0.0079	0.0072	0.0015	0	0.0035	0.0084	0.0079	0.0018	0.0068	0.0080	0.0085	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123313	0.66703	D	0.414742	0.92577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.421348	0.90701	31	0.99538050422870605	0.70336	0.99640	0.98249	D	AEFBI	.	.	.	1.11613391741329	0.98421	18.23353	0.94565821059137	0.97272	15.85643	0.999999999312529	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.063197	0.01477	0	0.092715	0.02821	0	0.978623	0.82860	4.74	4.74	0.59717	7.284000	0.78011	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.077	0.89359	405	0.82444	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	5487.41	34	chr2	162268086	.	C	T	5487.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.4;DP=842;ExcessHet=0.0101;FS=6.684;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=19.25;ReadPosRankSum=-0.309;SOR=1.099	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2710,243,0	16	1	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	14341.5	13	chr2	169294717	.	TAAA	T	14341.5	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.42;DP=1669;ExcessHet=0;FS=2.109;InbreedingCoeff=nan;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=30.19;ReadPosRankSum=0.704;SOR=1.372	GT:AD:DP:GQ:PL	1/0:0,13:30:75:866,233,164	7	0	12	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	1315.81	90	chr2	178535858	.	GA	G	1315.81	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-0.521;DP=2933;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.587;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=-0.227;SOR=0.718	GT:AD:DP:GQ:PL	0/1:88,14:109:35:35,0,1968	8	0	11	0
chr2	232535461	232535461	A	G	UTR3	CHRND	NM_001311196:c.*149A>G;NM_000751:c.*149A>G;NM_001311195:c.*149A>G;NM_001256657:c.*149A>G	.	.	Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 3B, fast-channel, Autosomal recessive	13	1496	13	0	0	13	0.00432612	.	.	.	285276	Congenital_Myasthenic_Syndrome,_Dominant/Recessive|Autosomal_recessive_multiple_pterygium_syndrome|Congenital_myasthenic_syndrome|Lethal_multiple_pterygium_syndrome	MedGen:CN239246|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0071885	0.0207	0.0082	0.0177	0	0.0435	0.0311	0	0.0150	0.0087127	1347	154602	rs114315112	0.0166	0.0180	0.0169	0.0164	0.0203	0.0164	0.0163	0.0199	0.0198	0.0029	0.0064	0.0047	6.018e-05	0.0143	0.0055	0.0203	0.0148	0.0112	0.0128	0.0129	0.0131	0.0126	0.0205	0.0124	0.0122	0.0196	0.0193	0.0032	0.0164	0.0099	0.0035	0.0004	0.0157	0.0068	0.0205	0.0133	0.0104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	204.34	17	chr2	232535461	.	A	G	204.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=274;ExcessHet=0;FS=0;InbreedingCoeff=-0.0275;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.7;ReadPosRankSum=-0.241;SOR=1.402	GT:AD:DP:GQ:PL	0/1:3,6:9:92:218,0,92	18	0	1	0
chr3	15645186	15645186	G	C	exonic	BTD	.	nonsynonymous SNV	BTD:NM_001281723:exon4:c.G1270C:p.D424H,BTD:NM_001281725:exon4:c.G1270C:p.D424H,BTD:NM_001370658:exon4:c.G1270C:p.D424H,BTD:NM_001323582:exon5:c.G1270C:p.D424H,BTD:NM_001281724:exon6:c.G1270C:p.D424H	Biotinidase deficiency, Autosomal recessive	2	1418	95	7	0	109	0.0370119	.	.	YES	16939	Biotinidase_deficiency|not_provided|Inborn_genetic_diseases|BTD-related_disorder	MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260,Orphanet:79241|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.769	.	0.0301	0.0185703	0.0317	0.0064	0.0152	0.0001	0.0540	0.0394	0.0352	0.0353	0.0314679	4865	154602	rs13078881	0.0390	0.0390	0.0391	0.0389	0.0420	0.0387	0.0386	0.0417	0.0415	0.0055	0.0189	0.0329	0.0002	0.0525	0.0205	0.0420	0.0385	0.0371	0.0294	0.0294	0.0284	0.0305	0.0403	0.0287	0.0284	0.0391	0.0386	0.0081	0	0.0287	0.0297	0.0002	0.0553	0.0408	0.0403	0.0350	0.0377	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	0.011652	0.29451	N	0.392353	0.991903	0.41504	A	3.055	0.86842	M	-3.72	0.95422	D	-5.48	0.85692	D	0.149	0.15187	0.464	0.90040	D	0.757	0.91710	D	9	0.01670149	0.00353	T	.	.	.	0.769	0.92212	.	.	.	.	0.8205354657431334	0.82010	0.109977912517	0.12399	0.437338232994	0.30213	T	0.892705	0.97833	D	0.00674126	0.52581	T	0.269042	0.86523	D	0.0872976775988275	0.10895	T	0.910909	0.68443	D	0.3162185	0.54318	0.4804979	0.69913	0.32418567	0.54991	0.41853052	0.65874	-8.47	0.64230	D	.	.	0.294	0.52508	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.641328	0.51634	23.1	0.99037496549655568	0.50939	0.93213	0.57620	D	AEFBI	0.527041	0.54914	D	0.306778470298634	0.56495	3.81437	0.17854025293852	0.48673	3.080047	0.999993304002011	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.678554	0.66404	0	.	.	5.58	3.8	0.42887	3.238000	0.51051	4.432000	0.43354	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.425000	0.27339	0.1379:0.0:0.8621:0.0	12.205	0.53657	498	0.76166	.;.;.;.;.;.;.	EAF1-AS1	Testis	.	.	rs13078881	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	0.027190	0.015152	0.016304	0.023392	0.000000	0.043103	0.042683	0.034091	0.1053	8230.41	158	chr3	15645186	.	G	C	8230.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.383;DP=988;ExcessHet=0.0101;FS=2.59;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=20.12;ReadPosRankSum=1.92;SOR=0.528	GT:AD:DP:GQ:PL	1/1:0,124:124:99:4291,372,0	16	1	2	0
chr3	149141200	149141200	-	TTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	0	74	22	0	130	152	0.129412	.	.	.	289084	Hermansky-Pudlak_syndrome|not_provided	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1528	0.0855	0.1686	0.1749	0.2173	0.1539	0.1706	0.1422	0.0001153	3	26028	rs111598115	0.1433	0.1582	0.1438	0.1429	0.1571	0.1428	0.1426	0.1536	0.1522	0.0970	0.1463	0.1186	0.1571	0.1933	0.0911	0.1440	0.1425	0.1265	0.1545	0.1568	0.1526	0.1565	0.1932	0.1528	0.1521	0.1873	0.1848	0.1476	0.0835	0.1932	0.1594	0.1759	0.2204	0.1434	0.1430	0.1580	0.1278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	95762.0	329	chr3	149141200	.	C	CTTTT	95762.0	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-1.089;DP=7853;ExcessHet=8.7202;FS=0.528;InbreedingCoeff=-0.3838;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=0.228;SOR=0.752	GT:AD:DP:GQ:PL	0/1:215,70:411:99:3977,0,9105	11	0	8	0
chr3	149172318	149172318	-	CACA	UTR3	HPS3	NM_001308258:c.*96_*97insCACA;NM_032383:c.*96_*97insCACA	.	.	Hermansky-Pudlak syndrome 3	.	.	.	.	.	.	.	.	.	.	289088	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014215	37	26028	rs374839757	0.1024	0.0998	0.1004	0.1041	0.1572	0.1016	0.1013	0.1528	0.1510	0.0572	0.0746	0.0510	0.1572	0.1543	0.0386	0.0972	0.0986	0.1216	0.1386	0.1400	0.1352	0.1421	0.2299	0.1370	0.1363	0.2187	0.2142	0.0804	0.1479	0.1238	0.0817	0.2299	0.2501	0.0664	0.1548	0.1201	0.1704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	1962.02	4	chr3	149172318	.	T	TCACA	1962.02	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.191;DP=258;ExcessHet=1.6165;FS=0;InbreedingCoeff=-0.0375;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=0.66;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,3:15:62:.:.:469,377,411:.	15	0	4	0
chr3	165018078	165018078	A	G	intronic	SI	.	.	.	Sucrase-isomaltase deficiency, congenital, Autosomal recessive	.	.	.	.	.	.	.	0.0030	0.15	.	293209	Sucrase-isomaltase_deficiency|not_provided	MONDO:MONDO:0009114,MedGen:C1283620,OMIM:222900,Orphanet:35122|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0005	0	0	0.0071	0	4.587e-05	0	0	0.0004851	75	154602	rs77749967	0.0007	0.0007	0.0008	0.0007	0.0221	0.0007	0.0007	0.0209	0.0204	3.407e-05	0	0.0001	0.0221	1.877e-05	0.0002	7.314e-05	0.0001	0	0.0003	0.0003	0.0003	0.0003	0.0073	0.0002	0.0002	0.0055	0.0049	0	0	0	0	0.0073	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	565.33	42	chr3	165018078	.	A	G	565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-2.264;SOR=0.693	GT:AD:DP:GQ:PL	0/1:19,19:38:99:579,0,534	18	0	1	0
chr3	170998041	170998041	G	A	exonic	SLC2A2	.	synonymous SNV	SLC2A2:NM_001278658:exon10:c.C1080T:p.F360F,SLC2A2:NM_001278659:exon10:c.C918T:p.F306F,SLC2A2:NM_000340:exon11:c.C1437T:p.F479F	Fanconi-Bickel syndrome, Autosomal recessive	2	712	648	160	0	968	0.404682	.	.	.	135795	not_specified|Fanconi-Bickel_syndrome|Type_2_diabetes_mellitus|not_provided	MedGen:CN169374|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3964	0.372604	0.3159	0.5942	0.2813	0.2418	0.2678	0.3020	0.3113	0.2840	0.310611	48021	154602	rs5398	0.2950	0.2951	0.2967	0.2933	0.6047	0.2943	0.2940	0.5978	0.5949	0.6047	0.2907	0.3167	0.2228	0.2633	0.3290	0.2893	0.3178	0.2786	0.3751	0.3754	0.3789	0.3713	0.5947	0.3726	0.3715	0.5885	0.5859	0.5947	0.2429	0.3398	0.3292	0.2307	0.2443	0.3151	0.2923	0.3645	0.2732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.367440	0.439394	0.398098	0.333333	0.450000	0.379310	0.328221	0.310606	0.2632	16346.2	100	chr3	170998041	.	G	A	16346.2	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-1.17;DP=1492;ExcessHet=1.8686;FS=3.247;InbreedingCoeff=-0.0857;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=-0.463;SOR=0.505	GT:AD:DP:GQ:PL	0/1:61,43:104:99:1010,0,1815	10	1	8	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	0.5526	85232.2	375	chr4	6300980	.	C	T	85232.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.441;DP=4379;ExcessHet=0.1862;FS=0.605;InbreedingCoeff=0.2549;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=22.78;ReadPosRankSum=-0.679;SOR=0.767	GT:AD:DP:GQ:PL	0/1:122,148:270:99:3968,0,3216	5	7	7	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	0.5789	63552.2	254	chr4	6301295	.	C	T	63552.2	.	AC=22;AF=0.579;AN=38;BaseQRankSum=1.58;DP=3316;ExcessHet=0.5308;FS=0.581;InbreedingCoeff=0.1364;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=21.89;ReadPosRankSum=-0.018;SOR=0.604	GT:AD:DP:GQ:PL	0/1:86,112:198:99:2856,0,2178	4	7	8	0
chr4	9783510	9783510	T	C	UTR3	DRD5	NM_000798:c.*47T>C	.	.	Dystonia, primary cervical (3)	432	231	483	376	0	1235	0.727755	.	.	.	1276892	not_provided|Hereditary_attention_deficit-hyperactivity_disorder	MedGen:C3661900|MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5689	0.425519	0.5709	0.3972	0.5150	0.3467	0.6116	0.6488	0.5898	0.4565	0.517587	80020	154602	rs1967551	0.6148	0.6108	0.6175	0.6119	0.6440	0.6137	0.6132	0.6427	0.6422	0.3840	0.5321	0.6847	0.3638	0.6146	0.5991	0.6440	0.5866	0.4671	0.5462	0.5462	0.5490	0.5433	0.6414	0.5431	0.5418	0.6364	0.6343	0.3963	0.5552	0.5524	0.6875	0.3346	0.6050	0.5748	0.6414	0.5464	0.4645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	31737.2	130	chr4	9783510	.	T	C	31737.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.592;DP=1781;ExcessHet=0.463;FS=0;InbreedingCoeff=0.1556;MLEAC=18;MLEAF=0.474;MQ=59.93;MQRankSum=0;QD=20.95;ReadPosRankSum=0.468;SOR=0.649	GT:AD:DP:GQ:PL	1/1:0,113:113:99:3762,339,0	6	5	8	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	0.7632	94577.4	236	chr4	38797027	.	C	A	94577.4	.	AC=29;AF=0.763;AN=38;BaseQRankSum=-0.546;DP=3688;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=29;MLEAF=0.763;MQ=53.96;MQRankSum=-8.634;QD=26.54;ReadPosRankSum=-0.324;SOR=0.701	GT:AD:DP:GQ:PL	1/1:0,191:191:99:6660,574,0	1	11	7	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	0.3947	26831.8	169	chr4	153703504	.	T	C	26831.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.322;DP=2021;ExcessHet=1.2994;FS=0;InbreedingCoeff=0.0087;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=-0.163;SOR=0.709	GT:AD:DP:GQ:PL	1/1:0,132:132:99:3813,396,0	7	3	9	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	0.3158	43127.9	33	chr4	154586438	.	T	C	43127.9	.	AC=12;AF=0.316;AN=38;BaseQRankSum=2.31;DP=2600;ExcessHet=0.145;FS=0;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=19.72;ReadPosRankSum=0.169;SOR=0.683	GT:AD:DP:GQ:PL	0/1:132,140:272:99:3696,0,3255	10	3	6	0
chr4	168685513	168685513	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001166109:exon5:c.G143A:p.R48Q,PALLD:NM_001166108:exon6:c.G1289A:p.R430Q,PALLD:NM_016081:exon6:c.G1289A:p.R430Q	.	428	1093	1	0	0	1	0.000457247	.	.	.	133553	not_provided|PALLD-related_disorder|Pancreatic_cancer,_susceptibility_to,_1	MedGen:C3661900|.|MONDO:MONDO:0011739,MedGen:C1847351,OMIM:606856,Orphanet:1333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.154	0.0929702827713	0.0002	.	0.0003	0	8.637e-05	0	0	0.0001	0.0022	0.0018	0.0003105	48	154602	rs145571230	0.0004	0.0004	0.0003	0.0005	0.0020	0.0004	0.0004	0.0017	0.0016	0	2.236e-05	0	2.52e-05	3.747e-05	0.0012	0.0004	0.0002	0.0020	0.0001	0.0001	0.0001	9.419e-05	0.0006	6.514e-05	5.325e-05	0.0002	9.011e-05	2.414e-05	0	0	0	0	9.438e-05	0	0.0002	0	0.0006	0.319	0.23450	T	0.351	0.26798	T	.	.	.	.	.	.	0.021648	0.26791	U	0.000000	0.592046	0.32464	D	0.85	0.21244	L	0.07	0.90147	T	-0.58	0.42384	N	0.174	0.19459	-0.2042	0.77562	T	0.642	0.87493	D	10	0.022705436	0.00574	T	0.09297	0.75988	D	0.154	0.40340	.	.	0.686536311325	0.68385	0.3423466360516373	0.34147	0.265490323693	0.29105	0.337552070618	0.16071	T	0.024891	0.23850	T	-0.290368	0.09600	T	-0.208884	0.53802	T	0.0224750909651064	0.00962	T	0.707729	0.43907	T	.	.	.	.	.	.	.	.	-1.147	0.01453	T	.	.	0.110	0.25100	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.802300	0.54790	23.5	0.99140355699201499	0.53518	0.92922	0.56878	D	AEFGBCI	0.208171	0.33427	N	0.0116171080162301	0.42383	2.552627	0.163453074544534	0.47858	3.009921	0.999999992742033	0.74766	0.638212	0.43195	0	0.48864	0.07623	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	2.700000	0.46753	5.172000	0.47832	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.810000	0.38174	0.153:0.0:0.847:0.0	10.096	0.41651	968	0.07033	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	2210.33	36	chr4	168685513	.	G	A	2210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=824;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.497;SOR=0.701	GT:AD:DP:GQ:PL	0/1:95,91:186:99:2224,0,2125	18	0	1	0
chr5	256320	256321	CT	-	intronic	SDHA	.	.	.	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	2	837	682	1	0	684	0.290076	.	.	.	297301	SDHA-related_disorder|Mitochondrial_complex_II_deficiency,_nuclear_type_1|not_provided|Leigh_syndrome|Paragangliomas_5|Pheochromocytoma|Hereditary_cancer-predisposing_syndrome|not_specified	.|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	8.255e-06	0	0	0	0	1.499e-05	0	0	0.0031889	83	26028	rs372662724	0.0587	0.1488	0.0629	0.0545	0.0712	0.0583	0.0582	0.0708	0.0706	0.0457	0.0112	0.0178	0.0073	0.0091	0.0398	0.0712	0.0454	0.0146	0.0009	0.0171	0.0008	0.0010	0.0012	0.0007	0.0007	0.0009	0.0008	0.0012	0.0012	0.0010	0.0003	0.0004	0.0010	0.0035	0.0007	0.0016	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	4256.78	157	chr5	256319	.	ACT	A	4256.78	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.636;DP=2025;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.92;MQRankSum=-12.78;QD=2.85;ReadPosRankSum=0.587;SOR=0.721	GT:AD:DP:GQ:PL	0/1:137,31:168:99:889,0,5599	10	0	9	0
chr5	256369	256370	TT	-	exonic	SDHA	.	frameshift deletion	SDHA:NM_001330758:exon13:c.1701_1702del:p.L568Efs*4,SDHA:NM_001294332:exon14:c.1800_1801del:p.L601Efs*4,SDHA:NM_004168:exon15:c.1944_1945del:p.L649Efs*4	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	0	1455	67	0	0	67	0.0225059	.	.	.	918954	Mitochondrial_complex_II_deficiency,_nuclear_type_1|not_specified|not_provided|Paragangliomas_5|Neurodegeneration_with_ataxia_and_late-onset_optic_atrophy|Dilated_cardiomyopathy_1GG|Leigh_syndrome	MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0135	0.0161	0.0340	0.0966	0.0029	0.0021	0.0044	0.0074	0.0001921	5	26028	rs112307877	0.0005	0.0132	0.0005	0.0004	0.0045	0.0004	0.0004	0.0039	0.0037	0.0015	0.0036	0.0002	0.0045	5.731e-05	0.0002	0.0002	0.0006	0.0004	0.0002	0.0061	0.0001	0.0003	0.0013	0.0001	0.0001	0.0005	0.0004	0.0004	0	0.0001	0	0.0013	9.489e-05	0	2.956e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005959	0.022727	0.002740	0.000000	0.000000	0.008929	0.007692	0.012195	0.05263	1496.79	168	chr5	256368	.	CTT	C	1496.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.834;DP=2001;ExcessHet=0.119;FS=3.211;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=56.47;MQRankSum=-8.822;QD=4.12;ReadPosRankSum=2.7;SOR=0.643	GT:AD:DP:GQ:PL	0/1:133,33:166:99:985,0,5414	17	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	7231.25	39	chr5	38528849	.	GAC	G	7231.25	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.37;DP=803;ExcessHet=0.463;FS=0;InbreedingCoeff=0.1556;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=17.99;ReadPosRankSum=-0.359;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,13:25:99:0|1:38528849_GAC_G:335,0,467:38528849	6	0	13	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	758.25	2	chr5	137621777	.	TAC	T	758.25	.	AC=17;AF=0.654;AN=26;BaseQRankSum=0.967;DP=36;ExcessHet=0;FS=0;InbreedingCoeff=0.6103;MLEAC=20;MLEAF=0.769;MQ=60;MQRankSum=0;QD=34.47;ReadPosRankSum=0.967;SOR=1.893	GT:AD:DP:GQ:PL	1/1:0,2:2:6:69,6,0	4	8	1	6
chr5	148996600	148996600	T	G	UTR3	SH3TC2	NM_024577:c.*8111A>C	.	.	Charcot-Marie-Tooth disease, type 4C, Autosomal recessive;Mononeuropathy of the median nerve, mild, Autosomal dominant	1358	136	6	22	0	50	0.15528	.	.	.	302127	not_provided|Susceptibility_to_mononeuropathy_of_the_median_nerve,_mild|Charcot-Marie-Tooth_disease_type_4C	MedGen:C3661900|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596,Orphanet:99949	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160711	4183	26028	rs17109205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2384	0.2386	0.2402	0.2365	0.3530	0.2363	0.2355	0.3482	0.3462	0.3530	0.2313	0.1628	0.2487	0.0267	0.1902	0.2211	0.2089	0.2412	0.2364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	77.32	2	chr5	148996600	.	T	G	77.32	.	AC=2;AF=0.143;AN=14;DP=14;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;QD=26.51;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:84,6,0	6	1	0	12
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	0.4211	26088.0	152	chr5	177093242	.	G	A	26088.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.67;DP=1763;ExcessHet=6.1876;FS=0;InbreedingCoeff=-0.2955;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=-0.497;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,47:102:99:.:.:1195,0,1315:.	5	2	12	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	0.7632	213407.0	523	chr6	7585734	.	G	C	213407.0	.	AC=29;AF=0.763;AN=38;BaseQRankSum=1.92;DP=8493;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=25.96;ReadPosRankSum=0.206;SOR=0.669	GT:AD:DP:GQ:PL	1/1:0,438:438:99:14421,1315,0	1	11	7	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	.	.	.	.	.	.	.	.	0.7105	33397.6	78	chr6	32039081	.	C	A	33397.6	.	AC=27;AF=0.711;AN=38;BaseQRankSum=-0.074;DP=1336;ExcessHet=2.8258;FS=2.779;InbreedingCoeff=-0.1515;MLEAC=27;MLEAF=0.711;MQ=60;MQRankSum=0;QD=26.38;ReadPosRankSum=0.296;SOR=0.447	GT:AD:DP:GQ:PL	0/1:12,49:61:99:1243,0,238	1	9	9	0
chr6	32041147	32041147	G	A	UTR3	CYP21A2	NM_000500:c.*13G>A;NM_001128590:c.*13G>A;NM_001368143:c.*13G>A;NM_001368144:c.*13G>A	.	.	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	14	1454	51	3	0	57	0.0192243	.	.	YES	576926	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|CYP21A2-related_disorder|not_provided|not_specified	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0095	0.0251597	0.0270	0.0035	0.0835	0.0835	0.0225	0.0153	0.0228	0.0166	0.0205819	3182	154602	rs6447	0.0173	0.0180	0.0174	0.0171	0.0625	0.0171	0.0170	0.0604	0.0596	0.0027	0.0513	0.0058	0.0625	0.0193	0.0077	0.0152	0.0148	0.0164	0.0157	0.0163	0.0154	0.0160	0.0688	0.0152	0.0150	0.0629	0.0605	0.0039	0.0100	0.0282	0.0066	0.0688	0.0198	0.0068	0.0160	0.0171	0.0164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	831.83	54	chr6	32041147	.	G	A	831.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.32;DP=746;ExcessHet=0.119;FS=1.832;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=56.27;MQRankSum=0.31;QD=10.02;ReadPosRankSum=0.999;SOR=0.501	GT:AD:DP:GQ:PL	0/1:16,16:32:99:349,0,336	17	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	2126.6	5	chr6	42963889	.	GTTTA	G	2126.6	.	AC=22;AF=0.579;AN=38;BaseQRankSum=-0.524;DP=118;ExcessHet=0.0637;FS=0;InbreedingCoeff=0.2455;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=30.38;ReadPosRankSum=-1.036;SOR=1.3	GT:AD:DP:GQ:PL	1/1:0,6:6:18:270,18,0	5	8	6	0
chr6	107876670	107876670	-	AA	intronic	SEC63	.	.	.	Polycystic liver disease 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	301016	Polycystic_liver_disease_1|Polycystic_liver_disease_2|not_provided	MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924|MONDO:MONDO:0014860,MedGen:C4310769,OMIM:617004,Orphanet:2924|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027278	71	26028	rs749125299	0.1375	0.1591	0.1371	0.1380	0.1657	0.1368	0.1364	0.1514	0.1458	0.1372	0.1235	0.1475	0.1060	0.1498	0.1657	0.1397	0.1464	0.1241	0.1681	0.1681	0.1687	0.1674	0.1888	0.1661	0.1653	0.1847	0.1830	0.1888	0.1671	0.1785	0.1605	0.1144	0.1398	0.2468	0.1609	0.1787	0.1661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	3353.52	8	chr6	107876670	.	C	CAA	3353.52	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-0.14;DP=678;ExcessHet=2.8258;FS=8.916;InbreedingCoeff=-0.2482;MLEAC=7;MLEAF=0.194;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.274;SOR=1.258	GT:AD:DP:GQ:PL	0/1:19,6:28:56:97,0,589	11	0	7	1
chr6	138912809	138912809	C	T	exonic	REPS1	.	nonsynonymous SNV	REPS1:NM_001286612:exon13:c.G1654A:p.D552N,REPS1:NM_001128617:exon15:c.G1846A:p.D616N,REPS1:NM_001286611:exon16:c.G1927A:p.D643N,REPS1:NM_031922:exon16:c.G1924A:p.D642N	.	439	1063	18	2	0	22	0.0102421	.	.	.	626157	Neurodegeneration_with_brain_iron_accumulation_7|not_specified|not_provided	MONDO:MONDO:0054763,MedGen:C4693583,OMIM:617916|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.134	0.00584594839477	0.0008	0.000399361	0.0010	0.0002	0.0008	0	0	0.0013	0.0044	0.0015	0.0009379	145	154602	rs140387177	0.0009	0.0009	0.0008	0.0010	0.0208	0.0008	0.0008	0.0178	0.0166	0.0011	0.0008	0.0020	0	0	0.0208	0.0007	0.0021	0.0017	0.0007	0.0007	0.0007	0.0007	0.0014	0.0006	0.0005	0.0009	0.0008	0.0002	0	0.0014	0.0026	0	0	0.0238	0.0006	0.0043	0.0012	0.005	0.63226	D	0.271	0.22291	T	0.059	0.64738	B	0.005	0.52463	B	0.000880	0.41335	D	0.270973	0.62933	0.32775	D	0	0.06538	N	1.46	0.32482	T	-0.39	0.13805	N	0.308	0.34767	-1.0977	0.04380	T	0.036	0.15465	T	10	0.010942996	0.00241	T	0.005846	0.15191	T	0.134	0.36365	.	.	0.360112713275	0.35619	0.11333632972681876	0.11261	0.249247192868	0.27497	0.488500058651	0.37230	T	0.010284	0.16191	T	-0.586622	0.00176	T	-0.628649	0.10516	T	0.0270770312247092	0.01555	T	0.948305	0.80045	D	0.09572074	0.22533	0.06060335	0.11566	0.112206236	0.26509	0.06677537	0.13724	-3.428	0.16361	T	0.10115356141937344	0.07544	0.082	0.18122	B	.;.;.;.;.;.	.;.;.;.;.;.	4.819928	0.78497	26.9	0.99854476823934191	0.93368	0.96974	0.71966	D	AEFBI	0.663323	0.63288	D	0.0659778328615646	0.44882	2.75418	0.282463158926441	0.54516	3.616317	0.999929269205257	0.46280	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	4.965000	0.63418	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.9239:0.0:0.0761	14.220	0.65367	919	0.19497	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.020202	0.010870	0.020468	0.000000	0.017241	0.003049	0.000000	0.05263	3761.83	34	chr6	138912809	.	C	T	3761.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.511;DP=896;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.598;SOR=0.672	GT:AD:DP:GQ:PL	0/1:77,78:155:99:1865,0,1882	17	0	2	0
chr6	152148069	152148069	G	A	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_001347702:exon8:c.C1417T:p.L473F,SYNE1:NM_001347701:exon10:c.C1558T:p.L520F,SYNE1:NM_033071:exon136:c.C24739T:p.L8247F,SYNE1:NM_182961:exon137:c.C24952T:p.L8318F	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	1	1514	6	1	0	8	0.00263505	.	.	.	191466	Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type|not_provided|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.174	0.0321819213905	0.0039	0.00219649	0.0053	0.0007	0.0014	0.0004	0.0044	0.0071	0.0055	0.0066	0.0050646	783	154602	rs141716975	0.0059	0.0059	0.0059	0.0059	0.0064	0.0058	0.0058	0.0063	0.0063	0.0006	0.0019	0.0075	0.0004	0.0052	0.0043	0.0064	0.0057	0.0059	0.0043	0.0043	0.0044	0.0041	0.0067	0.0040	0.0039	0.0062	0.0060	0.0012	0	0.0028	0.0078	0.0002	0.0033	0	0.0067	0.0066	0.0058	0.009	0.57480	D	0.101	0.41573	T	0.911	0.50336	P	0.391	0.44178	B	0.005705	0.32572	N	0.138648	0.723846	0.33646	D	2.79	0.81396	M	0.53	0.55090	T	-2.56	0.58896	D	0.48	0.59732	-0.9129	0.46492	T	0.130	0.43989	T	10	0.0070774257	0.00161	T	0.032182	0.54073	D	0.174	0.44019	.	.	0.545475791818	0.54202	0.290431846695997	0.28956	0.3225650581	0.34443	0.480468869209	0.36121	T	0.435129	0.78197	T	-0.392228	0.02603	T	-0.328794	0.41602	T	0.0457955055264653	0.04746	T	0.794021	0.44782	T	0.14669088	0.33569	0.19622447	0.43341	0.19970521	0.41919	0.2417533	0.49578	-4.822	0.34847	T	.	.	0.100	0.19276	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.039976	0.40753	21.2	0.98991608755424321	0.49963	0.99201	0.92723	D	AEFBI	0.731805	0.67876	D	0.172805657544691	0.49895	3.185045	0.13736673968672	0.46477	2.892999	0.999627368547509	0.41093	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.34	3.45	0.38602	5.924000	0.69776	6.392000	0.55560	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0731:0.0:0.7873:0.1396	9.784	0.39832	868	0.31772	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.007576	0.02632	1030.33	34	chr6	152148069	.	G	A	1030.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=1154;ExcessHet=0;FS=4.468;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.705;SOR=1.148	GT:AD:DP:GQ:PL	0/1:37,38:75:99:1044,0,918	18	0	1	0
chr6	152391580	152391580	-	AAAAAA	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299476	Cerebellar_ataxia|not_provided|Emery-Dreifuss_muscular_dystrophy	Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MedGen:CN517202|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0692	0.0572	0.0446	0.1472	0.0524	0.0572	0.0842	0.1106	0.0001921	5	26028	rs768125041	0.1080	0.1249	0.1087	0.1074	0.2456	0.1075	0.1073	0.2409	0.2389	0.0980	0.0497	0.0906	0.2456	0.0967	0.0955	0.1050	0.1115	0.1270	0.1623	0.1700	0.1628	0.1618	0.3566	0.1604	0.1596	0.3411	0.3349	0.1644	0.1811	0.1235	0.1686	0.3566	0.1421	0.1619	0.1554	0.1614	0.1968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	3077.49	4	chr6	152391580	.	G	GAAAAAA	3077.49	.	AC=5;AF=0.139;AN=36;BaseQRankSum=0.027;DP=997;ExcessHet=2.7716;FS=1.26;InbreedingCoeff=-0.0999;MLEAC=6;MLEAF=0.167;MQ=59.98;MQRankSum=0;QD=6.93;ReadPosRankSum=-1.113;SOR=0.817	GT:AD:DP:GQ:PL	0/1:29,3:36:20:137,0,1158	14	1	3	1
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	0.4737	20501.2	34	chr6	159692840	.	A	G	20501.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.6;DP=1097;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.3667;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=25;ReadPosRankSum=0.29;SOR=0.683	GT:AD:DP:GQ:PL	0/1:38,36:74:99:973,0,1075	7	6	6	0
chr7	21867834	21867834	-	T	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	5	243	697	577	0	1851	0.792041	.	.	.	195811	Primary_ciliary_dyskinesia_7|DNAH11-related_disorder|not_provided	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5730	0.033746	0.6045	0.2099	0.5787	0.4320	0.7077	0.7382	0.6483	0.5081	0.0130593	2019	154602	rs5882827	0.6962	0.6889	0.7006	0.6917	0.7467	0.6950	0.6946	0.7453	0.7447	0.1630	0.5066	0.7145	0.3626	0.7006	0.6058	0.7467	0.6467	0.4931	0.5446	0.5436	0.5484	0.5405	0.7376	0.5414	0.5401	0.7322	0.7299	0.1879	0.7073	0.5525	0.7209	0.3473	0.7068	0.5959	0.7376	0.5801	0.4740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	49728.2	112	chr7	21867834	.	G	GT	49728.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=0.584;DP=1766;ExcessHet=0.1862;FS=1.331;InbreedingCoeff=0.2549;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=31.82;ReadPosRankSum=0.641;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,107:107:99:1|1:21867834_G_GT:4747,322,0:21867834	5	7	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	7387.91	11	chr7	30633896	.	TA	T	7387.91	.	AC=15;AF=0.441;AN=34;BaseQRankSum=0.834;DP=713;ExcessHet=6.1876;FS=0;InbreedingCoeff=-0.4249;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=0.087;SOR=0.673	GT:AD:DP:GQ:PL	0/1:16,10:26:99:180,0,311	4	2	11	2
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2466.13	26	chr7	56019598	.	AC	A	2466.13	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.03;DP=613;ExcessHet=6.9875;FS=14.75;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=59.4;MQRankSum=-1.455;QD=7.03;ReadPosRankSum=-0.789;SOR=1.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,9:30:99:0|1:56019585_C_A:315,0,855:56019585	9	0	10	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	20506.8	40	chr7	92499847	.	CA	C	20506.8	.	AC=29;AF=0.763;AN=38;BaseQRankSum=1.13;DP=1301;ExcessHet=0.3441;FS=1.826;InbreedingCoeff=0.1244;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=21.59;ReadPosRankSum=0.145;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,62:64:99:.:.:1754,192,0:.	1	11	7	0
chr7	103652759	103652759	C	A	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon14:c.G1555T:p.V519F,RELN:NM_173054:exon14:c.G1555T:p.V519F	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	1	1519	1	0	1	2	0.000329056	0.9996	0.992	.	301362	Norman-Roberts_syndrome|not_provided|Familial_temporal_lobe_epilepsy_7	MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:C3661900|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	.	0.00119808	0.0010	0	0.0002	0	0	1.506e-05	0.0022	0.0072	0.0008538	132	154602	rs560704715	0.0005	0.0005	0.0003	0.0007	0.0073	0.0005	0.0005	0.0068	0.0066	0	4.489e-05	0	2.524e-05	0	0.0002	5.67e-05	0.0006	0.0073	0.0003	0.0003	0.0002	0.0003	0.0075	0.0002	0.0002	0.0055	0.0049	0	0	0	0	0	0	0	5.884e-05	0	0.0075	0.024	0.48186	D	0.046	0.49120	D	0.435	0.39389	B	0.082	0.35019	B	0.002691	0.36102	N	0.284721	0.996511	0.43249	D	0.55	0.14455	N	1.85	0.24472	T	-1.14	0.29323	N	0.539	0.56662	-1.1105	0.03027	T	0.047	0.20116	T	10	0.009126127	0.00206	T	0.00972	0.25381	T	0.047	0.12962	0.367	0.37524	0.0934897674506	0.08844	0.5589908977042667	0.55826	0.299952561941	0.32355	0.421777904034	0.28081	T	0.07195	0.34334	T	-0.455621	0.01046	T	-0.423379	0.30689	T	0.0304841956976632	0.02064	T	0.942406	0.78384	D	0.1947224	0.41232	0.14760011	0.34923	0.1499188	0.34155	0.14656962	0.34718	-4.917	0.35925	T	0.16811009849536868	0.21002	0.091	0.13315	B	.;.;.	.;.;.	2.747940	0.36012	20.1	0.98912333214730308	0.48399	0.97719	0.76640	D	AEFBI	0.822859	0.74309	D	0.0664803017288062	0.44904	2.756077	0.21848163884495	0.50873	3.274898	0.945732586119712	0.27674	0.625279	0.40028	0	0.573888	0.26702	0	0.573888	0.23631	0	0.59522	0.37078	0	.	.	5.43	5.43	0.79006	1.814000	0.38610	1.127000	0.24293	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:1.0:0.0:0.0	19.617	0.95631	860	0.33753	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	573.33	39	chr7	103652759	.	C	A	573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.996;DP=673;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.622;SOR=0.892	GT:AD:DP:GQ:PL	0/1:30,21:51:99:587,0,884	18	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6053	34711.6	68	chr7	103989356	.	T	TGCCGCC	34711.6	.	AC=23;AF=0.605;AN=38;BaseQRankSum=0.381;DP=1696;ExcessHet=1.0583;FS=0.653;InbreedingCoeff=0.0256;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=32.62;ReadPosRankSum=0.008;SOR=0.598	GT:AD:DP:GQ:PL	1/1:0,50:50:99:2180,149,0	3	7	9	0
chr7	107715515	107715515	C	A	UTR3	SLC26A4	NM_000441:c.*69C>A	.	.	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	309281	not_provided|Pendred_syndrome|Autosomal_recessive_nonsyndromic_hearing_loss_4	MedGen:C3661900|MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00319489	.	.	.	.	.	.	.	.	0.0001876	29	154602	rs76894072	0.0005	0.0004	0.0006	0.0005	0.0111	0.0005	0.0005	0.0102	0.0099	0.0004	0	0	0.0111	0	0.0004	3.632e-05	0.0010	0.0004	0.0008	0.0008	0.0008	0.0009	0.0150	0.0007	0.0007	0.0123	0.0114	0.0009	0	0	0	0.0150	0	0	7.351e-05	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	555.33	32	chr7	107715515	.	C	A	555.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.507;DP=646;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.36;ReadPosRankSum=0.459;SOR=0.877	GT:AD:DP:GQ:PL	0/1:9,17:26:99:569,0,270	18	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	0.2105	19735.2	37	chr7	113878379	.	C	A	19735.2	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-2.988;DP=1558;ExcessHet=0.0419;FS=1.164;InbreedingCoeff=0.3667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=1.03;SOR=0.586	GT:AD:DP:GQ:PL	0/1:75,82:157:99:2029,0,2009	13	2	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	8109.15	51	chr7	114663436	.	A	AT	8109.15	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.586;DP=1014;ExcessHet=2.8258;FS=1.106;InbreedingCoeff=-0.1515;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.101;SOR=0.592	GT:AD:DP:GQ:PL	0/1:33,19:52:99:378,0,774	9	1	9	0
chr7	117531068	117531068	T	C	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon4:c.T443C:p.I148T	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	1	1481	40	0	0	40	0.0133245	.	.	YES	47455	not_provided|not_specified|Cystic_fibrosis|CFTR-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:C5924204	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.566	0.470015243051	0.0005	0.00139776	0.0019	0	0.0016	0	0	0.0014	0.0045	0.0068	0.0017917	277	154602	rs35516286	0.0015	0.0015	0.0013	0.0017	0.0069	0.0015	0.0015	0.0060	0.0059	0.0002	0.0014	0	0	0.0001	0.0069	0.0013	0.0016	0.0065	0.0010	0.0010	0.0009	0.0012	0.0050	0.0009	0.0008	0.0034	0.0029	0.0001	0	0.0006	0	0	0.0002	0.0034	0.0016	0.0024	0.0050	0.347	0.18246	T	0.002	0.79402	D	0.29	0.32311	B	0.375	0.43710	B	0.000003	0.62929	D	0.101923	1	0.81001	D	0.69	0.16971	N	-2.45	0.91533	D	-0.68	0.19509	N	0.824	0.81957	0.195	0.85830	D	0.680	0.88926	D	9	0.01625809	0.00342	T	0.470015	0.94664	D	0.566	0.82289	.	.	0.998848891978	0.99883	0.9133943498492195	0.91313	0.0037552309061	0.00325	0.52395015955	0.42183	T	0.484044	0.81152	T	-0.124879	0.32329	T	0.0514297	0.73678	D	0.0436109125824296	0.04350	T	0.953805	0.83186	D	0.4518071	0.64155	0.31101498	0.57109	0.41221425	0.61570	0.3604569	0.61487	-4.629	0.34404	T	0.25147133547124706	0.34029	0.122	0.50063	B	.;.;.;.;.	.;.;.;.;.	3.972076	0.58326	24.0	0.99784997268737652	0.87131	0.98240	0.80839	D	AEFDI	0.977344	0.99718	D	0.222097987727501	0.52271	3.40233	0.385256298779943	0.60654	4.25553	0.999999986768859	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	7.608000	0.82114	7.931000	0.75020	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.314	0.82741	791	0.46100	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.;ABC transporter type 1, transmembrane 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	0.009063	0.015152	0.002717	0.008772	0.050000	0.000000	0.003049	0.030303	0.02632	1409.33	34	chr7	117531068	.	T	C	1409.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.347;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=1.29;SOR=0.63	GT:AD:DP:GQ:PL	0/1:60,60:120:99:1423,0,1393	18	0	1	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	0.8684	64745.1	153	chr7	127611134	.	T	G	64745.1	.	AC=33;AF=0.868;AN=38;BaseQRankSum=0.533;DP=2444;ExcessHet=1.3;FS=0.784;InbreedingCoeff=-0.1515;MLEAC=33;MLEAF=0.868;MQ=60;MQRankSum=0;QD=27.18;ReadPosRankSum=-0.083;SOR=0.559	GT:AD:DP:GQ:PL	1/1:0,130:130:99:4153,390,0	0	14	5	0
chr7	128850057	128850057	G	A	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001458:exon31:c.G5281A:p.A1761T	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	2	1518	2	0	0	2	0.000658328	.	.	.	456640	not_specified|not_provided|Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Myofibrillar_myopathy_5|Hypertrophic_cardiomyopathy_26|Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MedGen:CN239310|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.205	0.0675341140394	8.2e-05	.	0.0003	0	0	0	0	0	0	0.0006	4.53e-05	7	154602	rs376023896	5.038e-05	5.131e-05	3.414e-05	6.701e-05	0.0004	4.061e-05	3.724e-05	0.0003	0.0003	9.431e-05	5.544e-05	0	8.318e-05	0	0.0004	1.665e-05	0.0001	0.0004	2.627e-05	2.625e-05	0	5.374e-05	0.0004	8.14e-06	5.14e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0004	0.396	0.10623	T	0.408	0.14633	T	0.0	0.02946	B	0.0	0.01387	B	0.601199	0.05647	N	1.256630	1	0.22259	N	0	0.06538	N	-1.92	0.84773	D	-0.25	0.11008	N	0.089	0.06720	-0.8570	0.51477	T	0.281	0.65299	T	10	0.02578628	0.00762	T	0.067534	0.70193	D	0.205	0.49236	.	.	0.313793572803	0.30980	0.14684337731535502	0.14606	0.268453480664	0.29359	0.507365942001	0.39854	T	0.124825	0.45012	T	-0.457854	0.01014	T	-0.579296	0.14607	T	0.0175503277345762	0.00489	T	0.268573	0.04475	T	0.018550621	0.00377	0.035805933	0.02901	0.018550621	0.00376	0.035805933	0.02901	-4.216	0.26983	T	.	.	0.066	0.02145	B	.	.	-0.072174	0.03811	0.809	0.87569532218085455	0.17322	0.01571	0.05128	N	AEFBI	0.034719	0.04350	N	-1.36752715358219	0.02947	0.1309225	-1.35977112992375	0.03692	0.1727444	0.943335914867353	0.27564	0.706548	0.73137	0	0.588015	0.36545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.09	-3.82	0.04000	-2.434000	0.01097	-1.022000	0.06576	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.178000	0.21234	0.4396:0.1157:0.4447:0.0	7.454	0.26427	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1264.33	36	chr7	128850057	.	G	A	1264.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.068;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=1.72;SOR=0.637	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1278,0,1049	18	0	1	0
chr7	131505863	131505863	C	T	intronic	PODXL	.	.	.	.	.	.	.	.	.	.	.	0.6426	0.532	.	2137883	PODXL-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0001	0	0	0.0022	0	0	0	0	0.0001229	19	154602	rs201551993	2.992e-05	3.42e-05	2.532e-05	3.464e-05	0.0009	2.24e-05	1.987e-05	0.0007	0.0006	0	0	0	0.0009	0	0	9.242e-07	8.58e-05	3.769e-05	6.566e-05	6.562e-05	3.854e-05	9.4e-05	0.0015	3.514e-05	2.614e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4118	3330.8	123	chr7	131505863	.	C	T	3330.8	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-1.702;DP=1547;ExcessHet=17.0548;FS=216.424;InbreedingCoeff=-0.6539;MLEAC=15;MLEAF=0.441;MQ=60;MQRankSum=0;QD=2.71;ReadPosRankSum=1.02;SOR=12.236	GT:AD:DP:GQ:PL	0/1:57,32:89:99:316,0,956	3	0	14	2
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	2115.83	8	chr7	140734797	.	G	GA	2115.83	.	AC=24;AF=0.857;AN=28;BaseQRankSum=0.385;DP=146;ExcessHet=0;FS=5.721;InbreedingCoeff=0.6727;MLEAC=29;MLEAF=1;MQ=60;MQRankSum=0;QD=29.45;ReadPosRankSum=1.65;SOR=2.099	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,2:2:6:.:.:52,6,0:.	2	12	0	5
chr8	10610127	10610127	-	CCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG:p.E1324_G2392delinsGTKVIEGLQEERVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	2	62	35	14	113	176	0.336898	.	.	.	490785	not_specified|Occult_macular_dystrophy|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019748	514	26028	rs369606728	0.3003	0.2931	0.3009	0.2996	0.3367	0.2994	0.2990	0.3356	0.3352	0.0668	0.1268	0.2984	0.0016	0.2804	0.2689	0.3367	0.2875	0.1937	0.2690	0.2723	0.2800	0.2574	0.3823	0.2665	0.2655	0.3781	0.3764	0.1017	0.3651	0.1960	0.3263	0.0039	0.2681	0.3259	0.3823	0.2752	0.1849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	80542.9	290	chr8	10610127	.	T	TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	80542.9	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-1.188;DP=6208;ExcessHet=2.8258;FS=0;InbreedingCoeff=-0.1515;MLEAC=8;MLEAF=0.211;MQ=59.68;MQRankSum=-0.647;QD=26.63;ReadPosRankSum=-0.83;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:1,89:128:99:.:.:14734,6654,6122:.	11	0	8	0
chr8	22165143	22165146	GGAG	-	upstream;downstream	BMP1;SFTPC	dist=226;dist=665	.	.	.	961	445	48	68	0	184	0.171322	.	.	.	313871	not_provided|Osteogenesis_Imperfecta,_Recessive	MedGen:C3661900|MedGen:CN239451	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs750344454	0.1919	0.1472	0.1910	0.1927	0.2256	0.1903	0.1897	0.2144	0.2099	0.0570	0.2256	0.1847	0.0097	0.2767	0.1734	0.2043	0.1859	0.2043	0.1727	0.1650	0.1665	0.1792	0.2364	0.1707	0.1699	0.2293	0.2265	0.0456	0.3420	0.2364	0.1850	0.0059	0.3297	0.1800	0.2174	0.1714	0.2260	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1818	366.49	.	chr8	22165142	.	CGGAG	C	366.49	.	AC=4;AF=0.182;AN=22;BaseQRankSum=0.842;DP=43;ExcessHet=0.0328;FS=0;InbreedingCoeff=0.0959;MLEAC=7;MLEAF=0.318;MQ=60;MQRankSum=0;QD=26.18;ReadPosRankSum=0;SOR=0.593	GT:AD:DP:GQ:PL	0/1:2,2:4:78:78,0,78	8	1	2	8
chr8	132480670	132480670	-	C	UTR5	KCNQ3	NM_004519:c.-139_-138insG	.	.	Seizures, benign neonatal, type 2, Autosomal dominant	75	142	3	2	4	11	0.024055	.	.	.	313038	Benign_neonatal_seizures|not_provided|Benign_Neonatal_Epilepsy	MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949|MedGen:C3661900|MedGen:C0270851	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs879019805	0.0992	0.0754	0.0988	0.0996	0.1176	0.0985	0.0982	0.1020	0.0992	0.0987	0.0472	0.0809	0.0113	0.0962	0.1176	0.1002	0.0951	0.1026	0.0916	0.0897	0.0944	0.0887	0.1035	0.0902	0.0896	0.1013	0.1004	0.0952	0.0571	0.0558	0.0762	0.0041	0.0991	0.1106	0.1035	0.0927	0.0911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	1397.93	22	chr8	132480670	.	A	AC	1397.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-0.079;DP=329;ExcessHet=1.8686;FS=11.611;InbreedingCoeff=-0.1149;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.709;SOR=1.731	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,9:14:99:.:.:196,0,101:.	15	1	2	1
chr9	2622147	2622155	CGGCGGCGG	-	ncRNA_exonic	VLDLR-AS1	.	.	.	.	134	297	245	137	709	1228	0.466307	.	.	.	274730	not_provided|Congenital_cerebellar_hypoplasia|not_specified	MedGen:C3661900|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3265	0.30631	0.1908	0.1477	0.2045	0.25	0.125	0.2247	0.2105	0.1797	0.0002717	42	154602	rs369552432	0.3801	0.3475	0.3852	0.3748	0.4136	0.3792	0.3788	0.4075	0.4050	0.1944	0.3970	0.2985	0.4136	0.3827	0.2810	0.3964	0.3561	0.2349	0.3293	0.3297	0.3288	0.3298	0.4202	0.3269	0.3259	0.4055	0.4020	0.1981	0.1914	0.4141	0.2980	0.4202	0.3595	0.3483	0.3884	0.3335	0.2385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	24626.0	31	chr9	2622146	.	ACGGCGGCGG	A	24626.0	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.684;DP=1020;ExcessHet=0.3394;FS=0.629;InbreedingCoeff=0.1815;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=30.94;ReadPosRankSum=0.486;SOR=0.619	GT:AD:DP:GQ:PL	1/0:0,13:54:99:2246,1720,1934	10	4	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	24626.0	31	chr9	2622146	.	A	ACGG	24626.0	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.684;DP=1020;ExcessHet=0.3394;FS=0.629;InbreedingCoeff=0.1815;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=30.94;ReadPosRankSum=0.486;SOR=0.619	GT:AD:DP:GQ:PL	0/1:0,41:54:99:2246,528,405	9	2	8	0
chr9	34649445	34649445	A	G	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon8:c.A613G:p.N205D,GALT:NM_000155:exon10:c.A940G:p.N314D	Galactosemia, Autosomal recessive	0	1107	372	43	0	458	0.171407	.	.	YES	18652	GALT_POLYMORPHISM_(DUARTE,_D2)|Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase|Galactosemia|not_provided|GALT-related_disorder	.|MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239|Human_Phenotype_Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.382	.	0.0715	0.0728834	0.0920	0.0237	0.0572	0.0076	0.1131	0.0945	0.1289	0.1832	0.0897013	13868	154602	rs2070074	0.0956	0.0956	0.0927	0.0986	0.1801	0.0952	0.0950	0.1777	0.1767	0.0230	0.0656	0.1134	0.0067	0.1077	0.1130	0.0945	0.0966	0.1801	0.0748	0.0749	0.0737	0.0760	0.1732	0.0737	0.0732	0.1634	0.1595	0.0239	0.2264	0.0709	0.1086	0.0108	0.1101	0.0850	0.0952	0.0794	0.1732	1.0	0.00964	T	0.7	0.05727	T	0.0	0.02946	B	0.0	0.01387	B	0.023682	0.26395	N	0.363282	1	0.08975	N	-1.335	0.00675	N	-5.41	0.99076	D	0.69	0.02558	N	0.104	0.08786	-0.3448	0.73705	T	0.089	0.34216	T	10	0.0015891492	0.00018	T	.	.	.	0.382	0.69946	.	.	.	.	0.6107519334601241	0.61007	0.0529846633455	0.05838	0.494998365641	0.38132	T	0.531105	0.83775	D	-0.320467	0.06859	T	-0.0892856	0.64216	T	0.0011724377910854	0.00011	T	0.607439	0.22904	T	0.115712315	0.27301	0.081687234	0.18585	0.12176597	0.28627	0.085849494	0.19850	-2.233	0.04204	T	0.05973314454148825	0.01594	0.066	0.02313	B	.;.	.;.	2.301558	0.29454	18.13	0.77100449014328254	0.11737	0.33342	0.24805	N	AEFBI	0.235241	0.35787	N	-0.807690574731224	0.13113	0.6437672	-0.543084349204827	0.20989	1.133386	0.999962452380944	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	4.4	0.52402	1.735000	0.37800	6.631000	0.56152	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.3139:0.0:0.6861:0.0	7.829	0.28496	327	0.86637	.;Galactose-1-phosphate uridyl transferase, C-terminal	GALT|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|GALT|IL11RA|IL11RA|CNTFR-AS1|IL11RA|GALT|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|RP11-195F19.9|RPP25L|GALT|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA|RP11-195F19.9|TRBV26OR9-2|RP11-384P7.7|RPP25L|IL11RA|RP11-195F19.9|GALT|IL11RA|GALT|IL11RA|IL11RA|RPP25L|IL11RA|RP11-195F19.9|CNTFR-AS1|GALT|IL11RA|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|RPP25L|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	GALT|GALT|GALT|GALT|GALT|GALT|RP11-195F19.9|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|RPP25L|GALT|RP11-195F19.9|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|RPP25L|GALT|GALT|GALT|GALT|GALT|GALT|CCL27|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Uterus|Vagina|Whole_Blood	rs2070074	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.120342	0.055556	0.092391	0.134503	0.100000	0.129310	0.131098	0.200758	0.1842	8677.34	34	chr9	34649445	.	A	G	8677.34	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.438;DP=997;ExcessHet=0.0107;FS=3.335;InbreedingCoeff=0.4747;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=17.39;ReadPosRankSum=-0.15;SOR=0.506	GT:AD:DP:GQ:PL	0/1:67,45:112:99:1008,0,1767	14	2	3	0
chr9	37006549	37006549	T	A	intronic	PAX5	.	.	.	.	413	1107	2	0	0	2	0.000902527	0.0001	0.024	.	3031710	Leukemia,_acute_lymphoblastic,_susceptibility_to,_3|not_provided	MONDO:MONDO:0014241,MedGen:C3809874,OMIM:615545|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0	0	5.994e-05	0.0011	0.0008	0.0001294	20	154602	rs766161582	9.721e-05	9.713e-05	4.905e-05	0.0001	0.0013	8.383e-05	7.921e-05	0.0011	0.0010	0	0	0	0	0	0.0002	2.7e-05	0	0.0013	4.597e-05	4.593e-05	3.855e-05	5.372e-05	0.0008	2.108e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0	0	0	4.411e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2306.33	33	chr9	37006549	.	T	A	2306.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.413;DP=827;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.421;SOR=0.682	GT:AD:DP:GQ:PL	0/1:107,102:209:99:2320,0,2513	18	0	1	0
chr9	105601139	105601139	A	G	intronic	FKTN	.	.	.	Cardiomyopathy, dilated, 1X, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, Autosomal recessive	229	1243	42	8	0	58	0.0227987	0.0024	0.032	.	44804	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4|Walker-Warburg_congenital_muscular_dystrophy|Cardiomyopathy|not_provided|Dilated_cardiomyopathy_1X|Cardiovascular_phenotype|not_specified	MONDO:MONDO:0009678,MedGen:C0410174,OMIM:253800,Orphanet:272,Orphanet:588,Orphanet:899|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0012704,MedGen:C1969024,OMIM:611615,Orphanet:154|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0087	0.00499201	0.0168	0.0016	0.0103	0.0002	0.0111	0.0202	0.0152	0.0286	0.0110865	1714	154602	rs41277795	0.0104	0.0106	0.0096	0.0112	0.0248	0.0102	0.0102	0.0239	0.0235	0.0018	0.0071	0.0181	7.639e-05	0.0078	0.0239	0.0099	0.0105	0.0248	0.0085	0.0085	0.0082	0.0089	0.0203	0.0081	0.0080	0.0170	0.0158	0.0019	0	0.0112	0.0184	0.0004	0.0095	0.0238	0.0110	0.0118	0.0203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	5050.37	73	chr9	105601139	.	A	G	5050.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.121;DP=942;ExcessHet=1.3;FS=1.846;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.434;SOR=0.549	GT:AD:DP:GQ:PL	0/1:41,36:77:99:922,0,1135	14	0	5	0
chr9	105615421	105615421	G	A	intronic	FKTN	.	.	.	Cardiomyopathy, dilated, 1X, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, Autosomal recessive	0	1419	99	4	0	107	0.0363328	.	.	.	99430	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4|not_specified|Cardiovascular_phenotype|not_provided|Walker-Warburg_congenital_muscular_dystrophy|Dilated_cardiomyopathy_1X	MONDO:MONDO:0009678,MedGen:C0410174,OMIM:253800,Orphanet:272,Orphanet:588,Orphanet:899|MedGen:CN169374|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MONDO:MONDO:0012704,MedGen:C1969024,OMIM:611615,Orphanet:154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0089	0.00499201	0.0118	0.0016	0.0059	0.0002	0.0089	0.0135	0.0099	0.0232	0.0112612	1741	154602	rs76180538	0.0105	0.0106	0.0099	0.0112	0.0237	0.0104	0.0103	0.0229	0.0225	0.0019	0.0072	0.0183	0.0001	0.0078	0.0227	0.0102	0.0108	0.0237	0.0085	0.0085	0.0082	0.0088	0.0201	0.0081	0.0080	0.0169	0.0157	0.0018	0	0.0112	0.0185	0.0002	0.0095	0.0238	0.0110	0.0118	0.0201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	5667.37	77	chr9	105615421	.	G	A	5667.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.16;DP=940;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.087;SOR=0.665	GT:AD:DP:GQ:PL	0/1:42,52:94:99:1259,0,1018	14	0	5	0
chr9	105635214	105635214	A	G	exonic	FKTN	.	nonsynonymous SNV	FKTN:NM_006731:exon10:c.A1336G:p.N446D,FKTN:NM_001079802:exon11:c.A1336G:p.N446D,FKTN:NM_001351501:exon11:c.A940G:p.N314D,FKTN:NM_001351496:exon12:c.A1336G:p.N446D,FKTN:NM_001351500:exon12:c.A940G:p.N314D,FKTN:NM_001351497:exon13:c.A1267G:p.N423D,FKTN:NM_001351499:exon13:c.A940G:p.N314D,FKTN:NM_001351502:exon14:c.A940G:p.N314D	Cardiomyopathy, dilated, 1X, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, Autosomal recessive	0	1418	99	5	0	109	0.0370119	.	.	.	44802	Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified|not_provided|Dilated_cardiomyopathy_1X|Cardiovascular_phenotype|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012704,MedGen:C1969024,OMIM:611615,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0009678,MedGen:C0410174,OMIM:253800,Orphanet:272,Orphanet:588,Orphanet:899	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.300	.	0.0089	0.00519169	0.0119	0.0016	0.0060	0.0001	0.0091	0.0135	0.0099	0.0233	0.0113453	1754	154602	rs41313301	0.0106	0.0106	0.0100	0.0112	0.0239	0.0105	0.0104	0.0230	0.0227	0.0019	0.0071	0.0183	7.557e-05	0.0079	0.0232	0.0102	0.0109	0.0239	0.0085	0.0085	0.0082	0.0089	0.0205	0.0081	0.0080	0.0173	0.0160	0.0018	0	0.0112	0.0184	0.0002	0.0096	0.0238	0.0111	0.0118	0.0205	0.012	0.54683	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	0.87	0.46412	T	-3.58	0.69118	D	0.585	0.60579	-0.5018	0.68585	T	0.229	0.59384	T	10	0.009369671	0.00212	T	.	.	.	0.300	0.62068	.	.	.	.	0.8684169532120566	0.86806	0.221170247473	0.24664	0.498468160629	0.38615	T	0.758453	0.93437	D	-0.428331	0.01517	T	-0.370459	0.36836	T	0.0199803224639138	0.00699	T	0.858114	0.54842	D	0.4999224	0.67091	0.5050974	0.71394	0.4950371	0.66803	0.505191	0.71401	-8.868	0.66843	D	0.7717772321367129	0.85268	0.593	0.68599	P	.;.	.;.	4.572964	0.72174	25.8	0.99814950412451908	0.89885	0.98813	0.87189	D	AEFBI	0.892999	0.83050	D	0.886677694834095	0.91093	10.71156	0.867387695774653	0.93989	12.42429	0.999997937782057	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	8.886000	0.92075	11.219000	0.89698	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	15.770	0.77928	946	0.12043	.;.	FKTN|FKTN|FKTN|FKTN|FKTN|FKTN	Adipose_Subcutaneous|Artery_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	.	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	0.024673	0.025253	0.019022	0.032164	0.000000	0.025862	0.030488	0.022727	0.1316	8603.37	192	chr9	105635214	.	A	G	8603.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.795;DP=1178;ExcessHet=1.3;FS=1.773;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.897;SOR=0.541	GT:AD:DP:GQ:PL	0/1:64,48:112:99:1189,0,1728	14	0	5	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	.	.	.	.	.	.	.	.	0.6053	29638.8	93	chr9	133569476	.	A	G	29638.8	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.97;DP=1386;ExcessHet=0.0003;FS=0;InbreedingCoeff=0.6696;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=25.62;ReadPosRankSum=0.46;SOR=0.682	GT:AD:DP:GQ:PL	1/1:0,96:96:99:2973,288,0	6	10	3	0
chr9	133570351	133570351	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon17:c.C2436T:p.R812R,ADAMTSL2:NM_014694:exon17:c.C2436T:p.R812R	Geleophysic dysplasia 1, Autosomal recessive	3	1357	159	3	0	165	0.0573116	.	.	.	317129	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064423	996	154602	rs61733946	0.1006	0.0983	0.1027	0.0984	0.1183	0.1001	0.0999	0.1177	0.1175	0.0162	0.0540	0.0723	0.0004	0.0362	0.0778	0.1183	0.0881	0.0160	0.0710	0.0710	0.0762	0.0655	0.1170	0.0699	0.0694	0.1149	0.1140	0.0223	0.0286	0.0685	0.0669	0.0008	0.0318	0.0952	0.1170	0.0776	0.0168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1969.83	33	chr9	133570351	.	C	T	1969.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.436;DP=748;ExcessHet=0.119;FS=3.337;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=0.026;SOR=0.426	GT:AD:DP:GQ:PL	0/1:22,38:60:99:1001,0,548	17	0	2	0
chr9	133570435	133570435	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon17:c.C2520T:p.A840A,ADAMTSL2:NM_014694:exon17:c.C2520T:p.A840A	Geleophysic dysplasia 1, Autosomal recessive	0	1450	72	0	0	72	0.0242261	.	.	.	311652	Geleophysic_dysplasia_1|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010414	161	154602	rs368922820	0.0135	0.0135	0.0136	0.0135	0.0515	0.0134	0.0133	0.0467	0.0448	0.0028	0.0108	0.0308	0.0003	0.0020	0.0515	0.0149	0.0154	0.0056	0.0103	0.0103	0.0109	0.0098	0.0159	0.0099	0.0097	0.0151	0.0148	0.0031	0.0099	0.0110	0.0268	0.0004	0.0012	0.0340	0.0159	0.0156	0.0070	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	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	.	.	.	.	.	.	.	.	0.02632	1483.33	33	chr9	133570435	.	C	T	1483.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.312;DP=771;ExcessHet=0;FS=0.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=0.475;SOR=0.713	GT:AD:DP:GQ:PL	0/1:37,60:97:99:1497,0,784	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	2895.72	4	chr10	8074278	.	G	GA	2895.72	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-0.407;DP=172;ExcessHet=0.0012;FS=0;InbreedingCoeff=0.5952;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=25.4;ReadPosRankSum=-0.21;SOR=0.929	GT:AD:DP:GQ:PL	1/1:0,4:4:12:113,12,0	5	11	3	0
chr10	12112930	12112930	G	A	exonic	DHTKD1	.	nonsynonymous SNV	DHTKD1:NM_018706:exon13:c.G2185A:p.G729R	2-aminoadipic 2-oxoadipic aciduria, Autosomal recessive	8	1502	12	0	0	12	0.00397878	.	.	YES	48163	DHTKD1-related_disorder|2-aminoadipic_2-oxoadipic_aciduria|Inborn_disorder_of_lysine_and_hydroxylysine_metabolism|Tip-toe_gait|Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_type_2A2|not_specified|not_provided	.|MONDO:MONDO:0008774,MedGen:C1859817,OMIM:204750,Orphanet:79154|MONDO:MONDO:0017351,MedGen:C0268552,Orphanet:289832|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.235	0.376554540521	0.0018	0.000798722	0.0016	0.0006	0.0005	0.0002	0	0.0023	0	0.0014	0.0017529	271	154602	rs117225135	0.0027	0.0027	0.0028	0.0027	0.0033	0.0027	0.0026	0.0031	0.0031	0.0006	0.0005	0.0023	5.073e-05	9.368e-05	0.0033	0.0032	0.0026	0.0017	0.0019	0.0019	0.0021	0.0016	0.0034	0.0017	0.0016	0.0031	0.0029	0.0004	0	0.0009	0.0026	0.0002	0	0.0102	0.0034	0.0014	0.0008	0.006	0.61437	D	0.074	0.42976	T	0.978	0.58756	D	0.854	0.60866	P	0.000017	0.62929	D	0.120088	1	0.81001	D	2.215	0.62545	M	3.56	0.04696	T	-6.02	0.89684	D	0.824	0.81957	-1.1790	0.00384	T	0.039	0.16849	T	10	0.11351588	0.21328	T	0.376555	0.92872	D	0.235	0.53788	0.623	0.75803	0.393775345888	0.38992	0.7752925635615178	0.77479	0.195710018587	0.21922	0.60519015789	0.53637	T	0.296412	0.66905	T	-0.270306	0.11723	T	-0.162208	0.58153	T	0.0411741596724569	0.03903	T	0.973103	0.90315	D	0.7630603	0.81634	0.4724242	0.69415	0.7630603	0.81635	0.4724242	0.69416	-9.709	0.72151	D	.	.	0.224	0.45605	B	.	.	3.952037	0.57900	23.9	0.99918533384707586	0.98586	0.89111	0.49383	D	ALL	0.743112	0.68652	D	0.516671722209486	0.68076	5.167586	0.467964759947418	0.65880	4.879851	0.999999999994152	0.74766	0.706548	0.73137	0	0.648423	0.57943	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	4.34	0.51267	3.913000	0.56106	6.416000	0.55605	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.258000	0.23468	0.0799:0.0:0.9201:0.0	12.869	0.57342	808	0.43318	Transketolase-like, pyrimidine-binding domain|Transketolase-like, pyrimidine-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1427.33	34	chr10	12112930	.	G	A	1427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.1;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.368;SOR=0.648	GT:AD:DP:GQ:PL	0/1:58,51:109:99:1441,0,1363	18	0	1	0
chr10	13283784	13283784	C	T	exonic	PHYH	.	nonsynonymous SNV	PHYH:NM_001323083:exon5:c.G470A:p.R157Q,PHYH:NM_001037537:exon6:c.G434A:p.R145Q,PHYH:NM_001323084:exon6:c.G440A:p.R147Q,PHYH:NM_001323080:exon7:c.G434A:p.R145Q,PHYH:NM_001323082:exon7:c.G740A:p.R247Q,PHYH:NM_006214:exon7:c.G734A:p.R245Q	Refsum disease, Autosomal recessive	0	1465	55	2	0	59	0.019739	.	.	YES	195700	Vitamin_D-dependent_rickets_type_II_with_alopecia|not_provided|Nonsyndromic_cleft_lip_palate|Retinal_dystrophy|Phytanic_acid_storage_disease|not_specified	MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0009958,MedGen:C0034960,OMIM:266500,Orphanet:773|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.709	.	0.0045	0.00539137	0.0078	0.0012	0.0021	0.0002	0.0248	0.0079	0.0121	0.0127	0.0070374	1088	154602	rs62619919	0.0073	0.0073	0.0070	0.0076	0.0131	0.0072	0.0071	0.0125	0.0122	0.0011	0.0020	0.0020	7.557e-05	0.0242	0.0090	0.0068	0.0067	0.0131	0.0069	0.0070	0.0060	0.0079	0.0125	0.0066	0.0065	0.0099	0.0090	0.0011	0.0220	0.0016	0.0029	0	0.0299	0.0102	0.0083	0.0057	0.0125	0.061	0.41364	T	0.168	0.47581	T	0.948	0.53620	P	0.393	0.44248	B	0.000001	0.62929	D	0.095783	0.999999	0.58761	D	2.14	0.59869	M	-2.57	0.89692	D	-3.21	0.64826	D	0.746	0.83066	-0.0996	0.80107	T	0.487	0.80456	T	10	0.0109907985	0.00242	T	.	.	.	0.709	0.89605	.	.	0.819945016332	0.81825	0.7508317222829632	0.75030	0.422443036558	0.42745	0.316044032574	0.12821	T	0.851272	0.96618	D	0.0250171	0.55056	T	0.27419	0.86805	D	0.0586197129615423	0.06950	T	0.847515	0.53448	T	0.76901144	0.81988	0.5183276	0.72170	0.70621306	0.78400	0.5136754	0.71899	-5.679	0.46414	T	0.5775603130396747	0.64448	0.128	0.28693	B	.;.;.;.	.;.;.;.	2.910204	0.38601	20.8	0.99870173341436463	0.94815	0.82671	0.41867	D	AEFBCI	0.538925	0.55611	D	-0.0498178549336814	0.39610	2.338688	-0.0804250776182471	0.36199	2.10369	0.999955430836531	0.48110	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.75	4.85	0.62375	3.386000	0.52232	0.015000	0.13501	0.541000	0.25215	0.995000	0.38783	0.000000	0.08366	0.076000	0.17014	0.0:0.8455:0.0:0.1545	11.581	0.50145	934	0.15400	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.005435	0.002924	0.000000	0.008621	0.006098	0.007576	0.02632	1468.33	34	chr10	13283784	.	C	T	1468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.3;DP=711;ExcessHet=0;FS=2.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=0.798;SOR=0.468	GT:AD:DP:GQ:PL	0/1:42,53:95:99:1482,0,1034	18	0	1	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	0.6053	12490.8	35	chr10	23193706	.	T	C	12490.8	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.33;DP=673;ExcessHet=10.2499;FS=0.629;InbreedingCoeff=-0.4319;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=19.95;ReadPosRankSum=0.143;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:24,12:36:99:.:.:349,0,702:.	1	5	13	0
chr10	71734338	71734338	C	T	exonic	CDH23	.	synonymous SNV	CDH23:NM_022124:exon32:c.C4203T:p.T1401T	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	1	1518	3	0	0	3	0.000987167	.	.	.	174976	not_provided|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_12|CDH23-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.00159744	0.0022	0.0003	0.0002	0.0232	0	0.0003	0.0054	0.0024	0.0013519	209	154602	rs202166096	0.0009	0.0009	0.0008	0.0009	0.0153	0.0008	0.0008	0.0142	0.0138	8.992e-05	4.578e-05	0	0.0153	3.804e-05	0.0002	0.0004	0.0009	0.0025	0.0008	0.0008	0.0006	0.0009	0.0160	0.0006	0.0006	0.0132	0.0122	0	0	0.0002	0	0.0160	0	0	0.0002	0.0009	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	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	984.33	33	chr10	71734338	.	C	T	984.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.132;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-1.385;SOR=0.784	GT:AD:DP:GQ:PL	0/1:38,40:78:99:998,0,922	18	0	1	0
chr10	89215019	89215019	T	C	exonic	LIPA	.	nonsynonymous SNV	LIPA:NM_001288979:exon8:c.A661G:p.T221A,LIPA:NM_000235:exon10:c.A1009G:p.T337A,LIPA:NM_001127605:exon10:c.A1009G:p.T337A	Cholesteryl ester storage disease, Autosomal recessive;Wolman disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	323828	Cardiovascular_phenotype|Lysosomal_acid_lipase_deficiency|not_specified|Wolman_disease	MedGen:CN230736|MONDO:MONDO:0800449,MedGen:C5574740,OMIM:PS278000,Orphanet:275761|MedGen:CN169374|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151,Orphanet:75233	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.537	0.0572465132153	.	0.00219649	0.0007	0	0	0.0094	0	0	0.0011	0.0001	0.0006533	101	154602	rs143793106	0.0004	0.0004	0.0004	0.0004	0.0130	0.0003	0.0003	0.0121	0.0117	0	0	0	0.0130	0	0	1.799e-06	0.0002	3.478e-05	0.0003	0.0003	0.0003	0.0003	0.0095	0.0003	0.0002	0.0073	0.0066	0	0	6.537e-05	0	0.0095	0	0	0	0	0	0.01	0.58626	D	0.021	0.61642	D	0.994	0.66517	D	0.973	0.72923	D	0.000001	0.84330	D	0.096626	0.999981	0.81001	D	3.48	0.92553	M	-0.71	0.72889	T	-3.73	0.70920	D	0.593	0.61256	0.166	0.85324	D	0.507	0.81459	D	10	0.014250368	0.00300	T	0.057247	0.66895	D	0.537	0.80605	.	.	0.946304326258	0.94573	0.868387896329339	0.86803	0.59109759983	0.54556	0.366829067469	0.20376	T	0.316303	0.68785	T	-0.231679	0.16426	T	-0.0977483	0.63571	T	0.17998841624722	0.19234	T	0.788221	0.44094	T	0.90280396	0.91635	0.6312283	0.78486	0.90280396	0.91636	0.6312283	0.78487	-7.959	0.61771	D	0.6286499573945256	0.69779	0.166	0.42200	B	.;.;.	.;.;.	3.575301	0.50375	22.9	0.99614450537969501	0.74992	0.94852	0.62553	D	AEFDBIJ	0.662648	0.63245	D	0.516027948278005	0.68037	5.162374	0.338640393702899	0.57825	3.949946	0.999999954642827	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.08	3.94	0.44807	5.201000	0.64999	6.016000	0.52721	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.538000	0.29892	0.0:0.0785:0.0:0.9215	10.103	0.41690	867	0.32089	Alpha/beta hydrolase fold-1;.;Alpha/beta hydrolase fold-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1576.33	33	chr10	89215019	.	T	C	1576.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=764;ExcessHet=0;FS=5.075;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.693;SOR=0.58	GT:AD:DP:GQ:PL	0/1:74,65:139:99:1590,0,1798	18	0	1	0
chr10	99709472	99709472	T	C	UTR3	ENTPD7	NM_020354:c.*4789T>C;NM_001349962:c.*4789T>C;NM_001349963:c.*4789T>C	.	.	.	.	.	.	.	.	.	.	.	.	.	868552	Leigh_syndrome|not_provided	MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00599042	.	.	.	.	.	.	.	.	0.0052251	136	26028	rs148302095	0.0032	0.0032	0.0032	0.0032	0.0216	0.0031	0.0031	0.0160	0.0140	0.0045	0.0030	0.0214	0	0.0036	0.0216	0.0027	0.0059	0.0151	0.0045	0.0045	0.0044	0.0045	0.0151	0.0042	0.0041	0.0123	0.0113	0.0054	0	0.0040	0.0233	0	0.0007	0.0136	0.0032	0.0047	0.0151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	79.71	.	chr10	99709472	.	T	C	79.71	.	AC=2;AF=0.2;AN=10;DP=7;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.4;MQ=60;QD=24.75;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:82,6,0	4	1	0	14
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9211	20063.0	23	chr10	123053169	.	AT	A	20063.0	.	AC=35;AF=0.921;AN=38;BaseQRankSum=0.756;DP=975;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=35;MLEAF=0.921;MQ=60;MQRankSum=0;QD=26.06;ReadPosRankSum=-0.156;SOR=0.653	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1053,114,0	0	16	3	0
chr11	535463	535463	G	A	UTR5	HRAS	NM_005343:c.-1141C>T;NM_001318054:c.-1880C>T;NM_001130442:c.-1141C>T;NM_176795:c.-1141C>T	.	.	Congenital myopathy with excess of muscle spindles, Autosomal dominant, Isolated cases;Costello syndrome, Autosomal dominant, Isolated cases;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic	1010	453	25	34	0	93	0.0930931	.	.	.	1217844	not_provided|Noonan_syndrome_and_Noonan-related_syndrome	MedGen:C3661900|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0193638	504	26028	rs8176336	0.1310	0.0031	0.1313	0.1307	0.1667	0.1088	0.1006	0.1097	0.1014	.	.	.	.	.	.	0.1667	0	0.1323	0.1042	0.1043	0.1022	0.1063	0.1874	0.1028	0.1023	0.1772	0.1732	0.0755	0.2214	0.0802	0.0889	0.1312	0.1186	0.0903	0.1169	0.0956	0.1874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2143	80.54	2	chr11	535463	.	G	A	80.54	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0;DP=22;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	5	1	1	12
chr11	1938578	1938578	C	T	UTR3	TNNT3	NM_001367850:c.*86C>T;NM_001367851:c.*86C>T;NM_001297646:c.*86C>T;NM_001042780:c.*86C>T;NM_006757:c.*86C>T;NM_001367846:c.*86C>T;NM_001367845:c.*86C>T;NM_001367848:c.*86C>T;NM_001042781:c.*86C>T;NM_001042782:c.*86C>T;NM_001363561:c.*86C>T;NM_001367849:c.*86C>T;NM_001367852:c.*86C>T;NM_001367847:c.*86C>T;NM_001367844:c.*86C>T;NM_001367843:c.*86C>T;NM_001367842:c.*86C>T	.	.	Arthyrgryposis, distal, type 2B, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	325923	not_provided|Arthrogryposis_multiplex_congenita|Distal_arthrogryposis_type_2B1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037|MONDO:MONDO:0020820,MedGen:C5193014,OMIM:601680,Orphanet:1147	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.027	.	.	0.00259585	0.0034	0.0003	0	0	0	0	0	0.0123	0.0011061	171	154602	rs200540491	0.0006	0.0006	0.0003	0.0010	0.0096	0.0006	0.0006	0.0091	0.0088	0	0	0	0	0	0	4.251e-06	0.0004	0.0096	0.0002	0.0002	0.0002	0.0003	0.0068	0.0002	0.0001	0.0050	0.0044	0	0	0	0	0	0	0	0	0	0.0068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	529.33	28	chr11	1938578	.	C	T	529.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.599;DP=568;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.01;ReadPosRankSum=-0.981;SOR=0.99	GT:AD:DP:GQ:PL	0/1:6,17:23:99:543,0,116	18	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	.	.	.	.	.	.	.	.	0.7895	74441.6	127	chr11	2159830	.	T	G	74441.6	.	AC=30;AF=0.789;AN=38;BaseQRankSum=1.45;DP=2966;ExcessHet=0.0419;FS=0;InbreedingCoeff=0.3667;MLEAC=30;MLEAF=0.789;MQ=60;MQRankSum=0;QD=26.43;ReadPosRankSum=0.916;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,185:185:99:.:.:5661,555,0:.	2	13	4	0
chr11	5254939	5254939	G	A	upstream	HBG2	dist=158	.	.	Cyanosis, transient neonatal, Autosomal dominant;Fetal hemoglobin quantitative trait locus 1, Autosomal dominant	611	857	47	7	0	61	0.0343662	.	.	.	30023	not_provided|Hereditary_persistence_of_fetal_hemoglobin|not_specified	MedGen:C3661900|MONDO:MONDO:0020989,MedGen:C0019025,OMIM:141749|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0479484	1248	26028	rs1060499525	0.2183	0.1733	0.2171	0.2194	0.2475	0.2171	0.2166	0.2459	0.2452	0.1238	0.1610	0.1566	0.1167	0.1910	0.1586	0.2475	0.2074	0.2141	0.2071	0.2107	0.2105	0.2035	0.2630	0.2051	0.2043	0.2598	0.2584	0.1428	0.2024	0.1805	0.1739	0.1099	0.1876	0.1837	0.2630	0.2108	0.2288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	340.27	2	chr11	5254939	.	G	A	340.27	.	AC=5;AF=0.147;AN=34;BaseQRankSum=0;DP=165;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.2012;MLEAC=6;MLEAF=0.176;MQ=53.73;MQRankSum=0.431;QD=8.1;ReadPosRankSum=0;SOR=0.497	GT:AD:DP:GQ:PL	0/1:6,2:8:60:60,0,234	12	0	5	2
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	13563.8	26	chr11	6616508	.	AT	A	13563.8	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.292;DP=902;ExcessHet=0;FS=3.629;InbreedingCoeff=nan;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=23.71;ReadPosRankSum=0.273;SOR=0.425	GT:AD:DP:GQ:PL	0/1:2,12:25:99:482,196,167	11	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	.	.	.	.	.	.	.	.	0.6316	24565.1	85	chr11	17386857	.	C	T	24565.1	.	AC=24;AF=0.632;AN=38;BaseQRankSum=2.46;DP=1180;ExcessHet=0.0884;FS=0;InbreedingCoeff=0.3214;MLEAC=24;MLEAF=0.632;MQ=60;MQRankSum=0;QD=24.49;ReadPosRankSum=-0.201;SOR=0.711	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1916,168,0	4	9	6	0
chr11	17387291	17387291	G	C	exonic	KCNJ11	.	synonymous SNV	KCNJ11:NM_000525:exon1:c.C801G:p.L267L,KCNJ11:NM_001166290:exon2:c.C540G:p.L180L,KCNJ11:NM_001377297:exon2:c.C540G:p.L180L,KCNJ11:NM_001377296:exon3:c.C540G:p.L180L	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	0	1432	82	8	0	98	0.0330858	.	.	.	168867	Type_2_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_3|Maturity-onset_diabetes_of_the_young_type_13|Diabetes_mellitus,_permanent_neonatal_2|not_specified|Hyperinsulinemic_hypoglycemia|Permanent_neonatal_diabetes_mellitus|Hyperinsulinemic_hypoglycemia,_familial,_2|not_provided	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:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|MONDO:MONDO:0030087,MedGen:C5394296,OMIM:618856|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000825,MONDO:MONDO:0005803,MedGen:C1864903,OMIM:PS256450,Orphanet:443095|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0153	0.0133786	0.0174	0.0043	0.0105	0	0.0095	0.0220	0.0143	0.0242	0.0181498	2806	154602	rs5216	0.0215	0.0215	0.0215	0.0216	0.0276	0.0213	0.0212	0.0241	0.0237	0.0047	0.0122	0.0115	0	0.0094	0.0276	0.0240	0.0194	0.0224	0.0155	0.0155	0.0166	0.0144	0.0239	0.0150	0.0148	0.0229	0.0225	0.0050	0	0.0182	0.0095	0.0002	0.0082	0.0374	0.0239	0.0152	0.0191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	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	0.026183	0.025253	0.023098	0.032164	0.000000	0.025862	0.021341	0.037879	0.07895	6497.77	96	chr11	17387291	.	G	C	6497.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.104;DP=1781;ExcessHet=0;FS=0.472;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=22.48;ReadPosRankSum=-0.501;SOR=0.653	GT:AD:DP:GQ:PL	0/1:83,78:161:99:2060,0,2164	17	1	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	19360.1	51	chr11	17395957	.	A	G	19360.1	.	AC=22;AF=0.579;AN=38;BaseQRankSum=2.47;DP=970;ExcessHet=0.0637;FS=3.727;InbreedingCoeff=0.3523;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=25.47;ReadPosRankSum=0.222;SOR=0.419	GT:AD:DP:GQ:PL	1/1:0,63:63:99:1972,189,0	5	8	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	3236.15	17	chr11	17396823	.	C	A	3236.15	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-1.709;DP=367;ExcessHet=0.0003;FS=2.194;InbreedingCoeff=0.6832;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=33.36;ReadPosRankSum=-0.653;SOR=0.258	GT:AD:DP:GQ:PL	1/1:0,21:21:63:815,63,0	14	3	2	0
chr11	17463424	17463424	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	7	597	684	234	0	1152	0.491049	.	.	.	167555	Permanent_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Type_2_diabetes_mellitus|not_provided|not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|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:CN169374|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	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4870	0.467452	0.4604	0.7151	0.4818	0.4464	0.4098	0.4555	0.4456	0.3192	0.372013	57514	154602	rs2301703	0.3874	0.3872	0.3905	0.3843	0.7153	0.3865	0.3862	0.7077	0.7046	0.7153	0.4086	0.4696	0.3885	0.2994	0.4663	0.3843	0.4145	0.2911	0.4703	0.4705	0.4769	0.4636	0.7012	0.4675	0.4663	0.6944	0.6916	0.7012	0.3910	0.4287	0.4772	0.4001	0.2910	0.5340	0.3849	0.4706	0.2955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	39023.8	33	chr11	17463424	.	G	A	39023.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.661;DP=2166;ExcessHet=0.233;FS=0.597;InbreedingCoeff=0.229;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=21.2;ReadPosRankSum=-0.799;SOR=0.797	GT:AD:DP:GQ:PL	1/1:0,168:168:99:5597,504,0	8	4	7	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	0.5	60690.2	34	chr11	17474969	.	A	G	60690.2	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.118;DP=3073;ExcessHet=0.0125;FS=0.635;InbreedingCoeff=0.4737;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.11;ReadPosRankSum=-0.342;SOR=0.736	GT:AD:DP:GQ:PL	1/1:0,244:244:99:7170,731,0	7	7	5	0
chr11	47350048	47350048	G	A	exonic	MYBPC3	.	synonymous SNV	MYBPC3:NM_000256:exon4:c.C471T:p.F157F	Cardiomyopathy, dilated, 1MM, Autosomal dominant;Cardiomyopathy, hypertrophic, 4, Autosomal dominant;Left ventricular noncompaction 10, Autosomal dominant	0	1515	7	0	0	7	0.00230491	.	.	.	51927	Left_ventricular_noncompaction_cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided|Dilated_Cardiomyopathy,_Dominant|not_specified|Cardiomyopathy	Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN230736|MedGen:C3661900|MedGen:CN239310|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0004	0	0	0	0	0.0007	0	0.0002	0.0002393	37	154602	rs150291001	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0006	0.0005	9.331e-05	0.0001	0.0002	5.452e-05	0.0005	0.0005	0.0004	0.0003	0.0007	0.0003	0.0003	0.0003	0.0004	0.0005	0.0003	0.0002	0.0004	0.0003	9.629e-05	0	0.0001	0	0.0004	0.0007	0	0.0005	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.002024	0.000000	0.001362	0.000000	0.000000	0.000000	0.006098	0.003846	0.02632	1021.33	36	chr11	47350048	.	G	A	1021.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.404;DP=785;ExcessHet=0;FS=0.858;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.95;MQRankSum=1.08;QD=13.09;ReadPosRankSum=-0.911;SOR=0.8	GT:AD:DP:GQ:PL	0/1:37,41:78:99:1035,0,904	18	0	1	0
chr11	61398297	61398297	A	G	UTR3	TMEM216	NM_001330285:c.*21A>G;NM_001173991:c.*21A>G;NM_016499:c.*21A>G;NM_001173990:c.*21A>G	.	.	Joubert syndrome 2, Autosomal recessive;Meckel syndrome 2, Autosomal recessive	1	1508	12	1	0	14	0.00462046	.	.	.	254219	Meckel_syndrome,_type_2|Joubert_syndrome_2|not_specified|not_provided	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194,Orphanet:564|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091,Orphanet:2318|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0063	0.00199681	0.0055	0.0015	0.0017	0	0.0022	0.0086	0.0012	0.0019	0.0055562	859	154602	rs111371929	0.0077	0.0078	0.0080	0.0074	0.0094	0.0076	0.0075	0.0093	0.0092	0.0012	0.0026	0.0003	0	0.0019	0.0010	0.0094	0.0060	0.0017	0.0059	0.0059	0.0066	0.0051	0.0100	0.0056	0.0054	0.0094	0.0092	0.0015	0.0471	0.0045	0	0	0.0017	0.0136	0.0100	0.0038	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	559.33	47	chr11	61398297	.	A	G	559.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.456;DP=822;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.08;ReadPosRankSum=-0.595;SOR=0.608	GT:AD:DP:GQ:PL	0/1:50,29:79:99:573,0,1300	18	0	1	0
chr11	119206290	119206290	-	GGT	upstream	CBL	dist=49	.	.	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, Autosomal dominant	347	1111	6	1	57	65	0.00358744	.	.	.	324719	Noonan-like_syndrome|Noonan_syndrome_and_Noonan-related_syndrome|not_provided	MedGen:C1834120|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003428	53	154602	rs878976124	0.0149	0.0087	0.0156	0.0143	0.1310	0.0146	0.0144	0.1224	0.1190	0.1310	0.0115	0.0013	0.0336	0.0760	0.0089	0.0073	0.0190	0.0149	0.0469	0.0469	0.0449	0.0489	0.1221	0.0456	0.0451	0.1181	0.1164	0.1221	0.0048	0.0112	0	0.0533	0.0807	0	0.0103	0.0305	0.0275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	50.22	6	chr11	119206290	.	C	CGGT	50.22	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.619;DP=192;ExcessHet=0;FS=0;InbreedingCoeff=0.1802;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=5.58;ReadPosRankSum=0;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:119206290_C_CGGT:63,0,268:119206290	16	0	1	2
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	.	.	.	.	.	.	.	.	0.3421	2518.84	90	chr12	6018369	.	T	G	2518.84	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.118;DP=842;ExcessHet=13.8672;FS=7.854;InbreedingCoeff=-0.542;MLEAC=13;MLEAF=0.342;MQ=55.8;MQRankSum=-6.333;QD=3.86;ReadPosRankSum=1.54;SOR=0.316	GT:AD:DP:GQ:PL	0/1:30,8:38:84:84,0,895	6	0	13	0
chr12	6062968	6062968	T	C	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon13:c.A1519G:p.R507G	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	.	.	.	.	.	.	.	.	.	.	1152521	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.270	0.155155990288	.	0.00179712	0.0006	0	0	0.0075	0	1.58e-05	0.0012	0.0003	0.0005692	88	154602	rs189409574	0.0003	0.0003	0.0003	0.0003	0.0081	0.0002	0.0002	0.0074	0.0071	0	2.237e-05	0	0.0081	0	0	4.497e-06	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0083	0.0002	0.0002	0.0063	0.0056	0	0	6.534e-05	0	0.0083	0	0	0	0	0.0004	0.068	0.35726	T	0.084	0.41239	T	0.994	0.66517	D	0.985	0.76457	D	0.010987	0.29704	N	0.156443	0.938811	0.37239	D	1.8	0.47472	L	0.12	0.61089	T	-3.63	0.69714	D	0.388	0.42931	-0.6148	0.64205	T	0.235	0.60209	T	10	0.015665859	0.00329	T	0.155156	0.83615	D	0.270	0.58507	.	.	0.735289592754	0.73292	0.8434810525576213	0.84309	0.716724519433	0.62011	0.253543376923	0.04150	T	0.488385	0.81405	T	-0.373158	0.03438	T	-0.300831	0.44637	T	0.0722369363090276	0.08961	T	0.80142	0.44736	T	0.41904154	0.62028	0.3204465	0.57999	0.41904154	0.62028	0.3204465	0.57999	-7.26	0.55911	T	0.17828101851359965	0.22841	0.136	0.29533	B	.	.	3.677896	0.52339	23.2	0.99774909156149305	0.86260	0.40343	0.26415	N	AEFDGBCI	0.548730	0.56190	D	-0.0430544594344607	0.39914	2.361569	-0.0737879825207751	0.36477	2.123379	0.999999032925301	0.74766	0.722319	0.85440	0	0.615948	0.52940	0	0.600433	0.31921	0	0.735409	0.98432	0	.	.	5.18	4.02	0.45968	0.519000	0.22570	0.671000	0.20594	0.665000	0.62972	0.026000	0.20160	0.787000	0.26830	0.931000	0.46843	0.0:0.0915:0.1765:0.732	5.972	0.18590	900	0.24599	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1047.33	41	chr12	6062968	.	T	C	1047.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.123;DP=723;ExcessHet=0;FS=1.718;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.456;SOR=0.848	GT:AD:DP:GQ:PL	0/1:45,44:89:99:1061,0,1077	18	0	1	0
chr12	6936729	6936737	CAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1462_1470del:p.Q500_Q502del,ATN1:NM_001940:exon5:c.1462_1470del:p.Q500_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1274995	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1316794609	0.0263	0.0264	0.0253	0.0274	0.2237	0.0261	0.0260	0.2193	0.2175	0.2237	0.0764	0.0486	0.0300	0.0092	0.0510	0.0147	0.0377	0.0719	0.0814	0.0825	0.0827	0.0801	0.2309	0.0802	0.0797	0.2269	0.2253	0.2309	0.0045	0.0638	0.0459	0.0345	0.0085	0.0382	0.0170	0.0662	0.0715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	30319.4	79	chr12	6936728	.	ACAGCAGCAG	A	30319.4	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.939;DP=1487;ExcessHet=0.0524;FS=1.701;InbreedingCoeff=0.3603;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=33.76;ReadPosRankSum=-0.887;SOR=0.626	GT:AD:DP:GQ:PL	0/1:34,33:67:99:1219,0,1260	17	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	11234.8	27	chr12	21174718	.	T	TA	11234.8	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-0.433;DP=1312;ExcessHet=10.2499;FS=0;InbreedingCoeff=-0.4258;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.352;SOR=0.734	GT:AD:DP:GQ:PL	0/1:23,21:62:99:479,0,490	2	0	17	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	4482.45	20	chr12	21910317	.	C	CA	4482.45	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.222;DP=787;ExcessHet=12.0371;FS=0;InbreedingCoeff=-0.4566;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=0.29;SOR=0.656	GT:AD:DP:GQ:PL	0/1:8,13:23:99:277,0,140	16	0	3	0
chr12	47845054	47845054	C	A	intronic	VDR	.	.	.	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	84	358	570	510	0	1590	0.689506	.	.	.	1242175	Hepatocellular_carcinoma|not_provided|Vitamin_D-dependent_rickets_type_II_with_alopecia|Periodontitis	Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C3661900|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160|Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5622	0.515375	0.5187	0.6234	0.3909	0.2778	0.5489	0.5375	0.5256	0.5796	0.50879	78660	154602	rs7975232	0.5254	0.5252	0.5231	0.5277	0.6365	0.5244	0.5240	0.6294	0.6264	0.6365	0.4233	0.5667	0.3056	0.5525	0.6244	0.5274	0.5314	0.5759	0.5491	0.5493	0.5492	0.5489	0.6267	0.5459	0.5446	0.6203	0.6176	0.6267	0.5894	0.5041	0.5828	0.2901	0.5503	0.5548	0.5281	0.5518	0.5587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	6535.2	10	chr12	47845054	.	C	A	6535.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-1.626;DP=348;ExcessHet=0.1862;FS=5.896;InbreedingCoeff=0.2547;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=25.23;ReadPosRankSum=1.02;SOR=0.353	GT:AD:DP:GQ:PL	0/1:6,11:17:99:266,0,168	5	7	7	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	0.7895	28523.7	90	chr12	47879112	.	A	G	28523.7	.	AC=30;AF=0.789;AN=38;BaseQRankSum=-0.359;DP=1240;ExcessHet=0.6689;FS=0;InbreedingCoeff=0.05;MLEAC=30;MLEAF=0.789;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=0.867;SOR=0.663	GT:AD:DP:GQ:PL	0/1:29,36:65:99:839,0,687	1	12	6	0
chr12	47973495	47973495	C	T	exonic	COL2A1	.	nonsynonymous SNV	COL2A1:NM_033150:exon53:c.G4169A:p.R1390H,COL2A1:NM_001844:exon54:c.G4376A:p.R1459H	Achondrogenesis, type II or hypochondrogenesis, Autosomal dominant;Avascular necrosis of the femoral head, Autosomal dominant;Czech dysplasia, Autosomal dominant;Epiphyseal dysplasia, multiple, with myopia and deafness, Autosomal dominant;Kniest dysplasia, Autosomal dominant;Legg-Calve-Perthes disease, Autosomal dominant;Osteoarthritis with mild chondrodysplasia, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Platyspondylic skeletal dysplasia, Torrance type, Autosomal dominant;SED congenita, Autosomal dominant;SMED Strudwick type, Autosomal dominant;Spondyloepiphyseal dysplasia, Stanescu type, Autosomal dominant;Spondyloperipheral dysplasia, Autosomal dominant;Stickler sydrome, type I, nonsyndromic ocular, Autosomal dominant;Stickler syndrome, type I, Autosomal dominant;Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)	.	.	.	.	.	.	.	.	.	.	1198378	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.799	0.208023939335	.	.	3.295e-05	0.0002	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs777416478	1.094e-05	1.094e-05	9.529e-06	1.238e-05	0.0001	6.48e-06	5.24e-06	7.123e-05	5.481e-05	5.974e-05	0	0	0	0	0	2.698e-06	0	0.0001	1.316e-05	1.314e-05	1.286e-05	1.347e-05	4.834e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.834e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.014	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.935	0.84639	M	-0.99	0.75911	T	-4.49	0.78046	D	0.62	0.89800	0.549	0.91226	D	0.659	0.88159	D	10	0.84235394	0.83393	D	0.208024	0.87124	D	0.799	0.93425	0.804	0.92230	0.757324575301	0.75511	0.7060950846413222	0.70551	0.388330317616	0.40095	0.671713173389	0.63082	T	0.814506	0.95399	D	0.0799662	0.62037	D	0.113758	0.77821	D	0.94150573015213	0.61482	D	0.990434	0.97165	D	0.6083384	0.73139	0.53460103	0.73107	0.6083384	0.73140	0.53460103	0.73108	-11.608	0.82889	D	0.40487822326443895	0.49614	0.858	0.80194	P	.;.	.;.	4.922325	0.81085	27.5	0.99836040162667372	0.91714	0.98985	0.89557	D	AEFDGBI	0.928361	0.91246	D	0.877374356717802	0.90609	10.48188	0.792136062516755	0.89240	9.895026	0.999999999962267	0.74766	0.648238	0.45900	0	0.588066	0.40923	0	0.693144	0.63139	0	0.613276	0.41899	0	.	.	4.65	4.65	0.57626	7.902000	0.86082	7.729000	0.67687	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.483	0.87572	635	0.64580	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2087.33	33	chr12	47973495	.	C	T	2087.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.008;DP=817;ExcessHet=0;FS=0.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-2.052;SOR=0.751	GT:AD:DP:GQ:PL	0/1:74,86:160:99:2101,0,1695	18	0	1	0
chr12	114684071	114684071	-	GAGA	UTR5	TBX3	NM_016569:c.-872_-871insTCTC;NM_005996:c.-872_-871insTCTC	.	.	Ulnar-mammary syndrome, Autosomal dominant	183	10	1	20	12	53	0.672131	.	.	.	329647	Ulnar-mammary_syndrome|not_provided|TBX3-related_disorder	MONDO:MONDO:0008411,MedGen:C1866994,OMIM:181450,Orphanet:3138|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.531749	.	.	.	.	.	.	.	.	0.000461	12	26028	rs112192237	0.3711	0.0814	0.3707	0.3715	0.4265	0.3674	0.3658	0.4036	0.3945	0.1648	0.4265	0.4241	0.3475	0.3793	0.4067	0.3834	0.3747	0.3964	0.4430	0.4427	0.4419	0.4441	0.6223	0.4401	0.4390	0.6117	0.6074	0.1855	0.3440	0.6223	0.6177	0.4456	0.4555	0.6092	0.5353	0.5029	0.5668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	666.07	2	chr12	114684071	.	G	GGAGA	666.07	.	AC=7;AF=0.389;AN=18;BaseQRankSum=0;DP=48;ExcessHet=0.0125;FS=0;InbreedingCoeff=0.3584;MLEAC=11;MLEAF=0.611;MQ=60;MQRankSum=0;QD=30.28;ReadPosRankSum=1.38;SOR=0.724	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	5	3	1	10
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	0.6053	34378.8	82	chr12	120978819	.	C	G	34378.8	.	AC=23;AF=0.605;AN=38;BaseQRankSum=0.693;DP=2079;ExcessHet=4.2649;FS=0;InbreedingCoeff=-0.2116;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=17.8;ReadPosRankSum=-0.18;SOR=0.675	GT:AD:DP:GQ:PL	0/1:60,75:138:99:1738,0,1422	2	6	11	0
chr12	120994314	120994314	G	C	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon4:c.G864C:p.G288G,HNF1A:NM_001306179:exon4:c.G864C:p.G288G	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	1	960	485	76	0	637	0.24912	.	.	YES	134682	Type_2_diabetes_mellitus|not_specified|Maturity-onset_diabetes_of_the_young_type_3|not_provided|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:CN169374|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2358	0.18111	0.2788	0.2155	0.4862	0.0010	0.3177	0.3303	0.2558	0.1095	0.0467846	7233	154602	rs56348580	0.2836	0.2840	0.2896	0.2775	0.4254	0.2829	0.2826	0.4203	0.4181	0.2029	0.4254	0.3119	0.0011	0.2745	0.2413	0.3053	0.2696	0.1032	0.2624	0.2624	0.2679	0.2566	0.3670	0.2602	0.2593	0.3590	0.3557	0.2065	0.2297	0.3670	0.3111	0.0035	0.2655	0.2828	0.3009	0.2792	0.1005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.253030	0.277778	0.309783	0.222222	0.250000	0.206897	0.212963	0.162879	0.1579	9063.4	33	chr12	120994314	.	G	C	9063.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.99;DP=1414;ExcessHet=2.0135;FS=0.52;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.486;SOR=0.739	GT:AD:DP:GQ:PL	0/1:87,76:163:99:1531,0,2436	13	0	6	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	.	.	.	.	.	.	.	.	0.5263	45289.9	207	chr12	120997672	.	G	A	45289.9	.	AC=20;AF=0.526;AN=38;BaseQRankSum=1.6;DP=2635;ExcessHet=5.5644;FS=0.544;InbreedingCoeff=-0.2667;MLEAC=20;MLEAF=0.526;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=0.206;SOR=0.636	GT:AD:DP:GQ:PL	0/1:92,73:165:99:1923,0,2214	3	4	12	0
chr12	120999311	120999311	G	A	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon8:c.G1545A:p.T515T,HNF1A:NM_001306179:exon8:c.G1545A:p.T515T	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	6	1117	359	40	0	439	0.164235	.	.	.	134678	not_provided|Maturity-onset_diabetes_of_the_young_type_3|Insulin-resistant_diabetes_mellitus|not_specified|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|Human_Phenotype_Ontology:HP:0000831,MedGen:C0854110|MedGen:CN169374|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	.	.	.	.	.	.	.	.	.	.	0.1406	0.0628994	0.1404	0.0314	0.0832	0.0002	0.2201	0.2028	0.1604	0.0378	0.14179	21921	154602	rs55834942	0.1737	0.1737	0.1765	0.1709	0.1945	0.1731	0.1729	0.1938	0.1935	0.0288	0.0922	0.2178	0.0002	0.2269	0.1664	0.1945	0.1672	0.0430	0.1314	0.1316	0.1348	0.1279	0.1933	0.1299	0.1293	0.1906	0.1894	0.0320	0.1184	0.1158	0.2156	0.0012	0.2217	0.1735	0.1933	0.1504	0.0380	.	.	.	0.327	0.18732	T	.	.	.	.	.	.	.	.	.	.	1.73528e-07	0.58761	P	.	.	.	.	.	.	.	.	.	0.258	0.29197	.	.	.	.	.	.	.	0.0015262663	0.00017	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228977	0.59467	T	-0.670285	0.00055	T	-0.591775	0.13514	T	.	.	.	0.572443	0.20452	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17615	B	.	.	0.601294	0.09695	6.467	0.87586234059153356	0.17334	0.06033	0.12001	N	AEFDBHCI	0.012670	0.00144	N	.	.	.	.	.	.	0.999999993559442	0.74766	0.428477	0.06694	0	0.514364	0.08380	0	0.587068	0.30358	0	0.613276	0.41899	0	.	.	5.52	-7.74	0.01103	-1.465000	0.02463	-4.648000	0.02052	-0.135000	0.12811	0.001000	0.13787	0.000000	0.08366	0.987000	0.62547	0.6039:0.1731:0.1294:0.0937	5.290	0.15034	374	0.84073	.	C12orf43|C12orf43|P2RX4|UNC119B|P2RX4|SPPL3|SPPL3|P2RX4|SPPL3|P2RX4|P2RX4|P2RX4|P2RX4|P2RX4|GATC|COQ5|P2RX4|SPPL3|C12orf43|P2RX4|P2RX4|P2RX4|P2RX4|SPPL3|ACADS|P2RX4|P2RX4	Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood	POP5|POP5|C12orf43	Adipose_Subcutaneous|Testis|Testis	rs55834942	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	0.159617	0.151515	0.210598	0.128655	0.150000	0.129310	0.155488	0.117424	0.1053	9596.43	34	chr12	120999311	.	G	A	9596.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.572;DP=1257;ExcessHet=0.7564;FS=1.104;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=2.03;SOR=0.81	GT:AD:DP:GQ:PL	0/1:101,105:206:99:2597,0,2377	15	0	4	0
chr12	132677403	132677403	G	A	exonic	POLE	.	nonsynonymous SNV	POLE:NM_006231:exon8:c.C761T:p.P254L	FILS syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	462233	Hereditary_cancer-predisposing_syndrome|POLE-related_disorder|not_specified|Polymerase_proofreading-related_adenomatous_polyposis|Familial_colorectal_cancer_type_X|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|MedGen:CN169374|MONDO:MONDO:0018653,MedGen:C0130294,Orphanet:447877|MONDO:MONDO:0018604,MedGen:C3896578,Orphanet:440437|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.297	0.0128787333386	.	0.000399361	0.0002	9.61e-05	8.639e-05	0.0001	0	0	0	0.0016	0.000207	32	154602	rs200211438	9.577e-05	9.645e-05	7.351e-05	0.0001	0.0013	8.242e-05	7.783e-05	0.0011	0.0011	2.987e-05	0	0	2.519e-05	0	0	3.597e-06	0.0003	0.0013	8.545e-05	8.533e-05	2.572e-05	0.0001	0.0025	4.959e-05	3.964e-05	0.0014	0.0011	0	0	6.543e-05	0	0	0	0	0	0	0.0025	0.082	0.33254	T	0.251	0.23776	T	0.589	0.39027	P	0.099	0.30579	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.725	0.44537	L	3.02	0.08986	T	-6.19	0.90332	D	0.87	0.86725	-1.0425	0.16562	T	0.026	0.11220	T	10	0.15959802	0.29983	T	0.012879	0.31834	T	0.297	0.61730	.	.	0.510872562601	0.50726	0.5469154218592532	0.54617	0.252944212438	0.27862	0.665792942047	0.62238	T	0.377036	0.74030	T	-0.211641	0.19148	T	-0.0957982	0.63721	T	0.156351227009973	0.17598	T	0.827017	0.49049	T	0.20831336	0.43064	0.29710004	0.55743	0.19223946	0.40885	0.27367914	0.53288	-9.087	0.68254	D	.	.	0.127	0.27100	B	.;.	.;.	3.959428	0.58061	23.9	0.91686288816630956	0.20978	0.99661	0.98441	D	AEFDGBI	0.846045	0.76294	D	0.234728798985761	0.52888	3.460346	0.314929910575516	0.56418	3.804931	0.999999999999955	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	9.953000	0.98977	8.599000	0.77719	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.526000	0.29613	0.0:0.0:1.0:0.0	19.707	0.96071	906	0.23090	DNA-directed DNA polymerase, family B, exonuclease domain;DNA-directed DNA polymerase, family B, exonuclease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2159.33	33	chr12	132677403	.	G	A	2159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=791;ExcessHet=0;FS=4.744;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.254;SOR=1.075	GT:AD:DP:GQ:PL	0/1:77,86:163:99:2173,0,1738	18	0	1	0
chr12	132730335	132730397	CCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	-	intronic	ANKLE2	.	.	.	.	439	456	411	216	0	843	0.480342	.	.	.	791214	Microcephaly_16,_primary,_autosomal_recessive|not_provided	MONDO:MONDO:0014730,MedGen:C4225249,OMIM:616681,Orphanet:2512|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	.	0.3599	0.3308	0.3572	0.3627	0.3949	0.3590	0.3586	0.3800	0.3740	0.2624	0.3523	0.4405	0.1661	0.4326	0.3949	0.3654	0.3676	0.3689	0.4049	0.4061	0.4063	0.4035	0.4607	0.4022	0.4011	0.4564	0.4546	0.3189	0.5621	0.3897	0.4957	0.1763	0.4643	0.4558	0.4607	0.4041	0.4202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	12459.2	32	chr12	132730334	.	CCCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	C	12459.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.195;DP=701;ExcessHet=1.9883;FS=6.156;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=59.95;MQRankSum=0;QD=26.68;ReadPosRankSum=-0.79;SOR=0.372	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,10:30:99:.:.:361,0,805:.	5	4	10	0
chr13	72965328	72965328	A	G	exonic	PIBF1	.	nonsynonymous SNV	PIBF1:NM_006346:exon15:c.A1888G:p.I630V,PIBF1:NM_001349655:exon16:c.A1975G:p.I659V	.	433	954	120	15	0	150	0.0728863	.	.	.	1625324	not_provided|Joubert_syndrome_33	MedGen:C3661900|MONDO:MONDO:0033311,MedGen:C4540389,OMIM:617767	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.072	.	0.0211	0.0227636	0.0294	0.0043	0.0154	0.0001	0.0150	0.0297	0.0410	0.0741	0.0284214	4394	154602	rs11544631	0.0299	0.0293	0.0279	0.0320	0.0801	0.0297	0.0296	0.0785	0.0778	0.0052	0.0181	0.0534	0.0002	0.0138	0.0725	0.0281	0.0323	0.0801	0.0217	0.0218	0.0217	0.0218	0.0670	0.0211	0.0209	0.0610	0.0586	0.0056	0.1121	0.0216	0.0473	0.0006	0.0153	0.0782	0.0282	0.0241	0.0670	0.17	0.22833	T	0.298	0.42976	T	0.876	0.48154	P	0.927	0.66185	D	0.000019	0.62929	D	0.118519	0.99992	0.51308	D	1.52	0.38360	L	2.22	0.18248	T	-0.52	0.16187	N	0.098	0.18239	-1.1678	0.00583	T	0.029	0.12278	T	10	0.002918452	0.00047	T	.	.	.	0.072	0.21020	.	.	.	.	0.13770529066343418	0.13694	0.0423253043462	0.04561	0.45378190279	0.32461	T	0.015357	0.12895	T	-0.610455	0.00126	T	-0.590473	0.13625	T	0.0385543579617264	0.03430	T	0.626037	0.24205	T	0.06711497	0.14505	0.07295199	0.15797	0.07176528	0.15913	0.07295199	0.15796	-4.3	0.28177	T	0.1953686098761516	0.25771	0.094	0.15070	B	.;.;.	.;.;.	2.022457	0.25704	16.86	0.99822133550549286	0.90502	0.92735	0.56418	D	AEFI	0.406743	0.47911	N	0.42687146605143	0.62904	4.514306	0.455079957116064	0.65044	4.774146	0.99992945366436	0.46280	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.12	5.12	0.69459	3.575000	0.53614	2.945000	0.35685	0.691000	0.84096	1.000000	0.71638	0.974000	0.29927	0.999000	0.91618	1.0:0.0:0.0:0.0	14.731	0.68999	975	0.05339	.;.;.	.	.	.	.	rs11544631	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.077543	0.035354	0.077446	0.067251	0.250000	0.103448	0.088415	0.087121	0.1579	6657.38	36	chr13	72965328	.	A	G	6657.38	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.52;DP=1092;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.2083;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.855;SOR=0.674	GT:AD:DP:GQ:PL	1/1:0,96:96:99:2740,287,0	14	1	4	0
chr13	113118845	113118845	G	A	exonic	F7	.	nonsynonymous SNV	F7:NM_001267554:exon6:c.G986A:p.R329Q,F7:NM_019616:exon8:c.G1172A:p.R391Q,F7:NM_000131:exon9:c.G1238A:p.R413Q	Factor VII deficiency, Autosomal recessive	0	910	520	92	0	704	0.278922	.	.	YES	27119	not_provided|not_specified|Factor_VII_deficiency|Myocardial_infarction,_decreased_susceptibility_to|Factor_X_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0002244,MeSH:D005168,MedGen:C0015503|.|MONDO:MONDO:0002247,MeSH:D005171,MedGen:C0015519	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.188	.	0.11	0.138379	0.1341	0.1259	0.1018	0.0533	0.0751	0.1210	0.1437	0.2757	0.125995	19479	154602	rs6046	0.1165	0.1164	0.1107	0.1223	0.2761	0.1160	0.1158	0.2732	0.2720	0.1225	0.1074	0.1911	0.0599	0.0736	0.2135	0.1056	0.1239	0.2761	0.1163	0.1164	0.1162	0.1165	0.2740	0.1149	0.1143	0.2618	0.2568	0.1210	0.1725	0.1158	0.2056	0.0477	0.0697	0.1803	0.1088	0.1317	0.2740	0.228	0.26519	T	0.165	0.30926	T	0.254	0.32525	B	0.005	0.13708	B	0.521729	0.11734	N	0.744753	1	0.08975	P	0.615	0.15706	N	-1.51	0.81399	D	-1.16	0.29727	N	0.085	0.06190	-1.1082	0.03229	T	0.005	0.01688	T	9	0.003981173	0.00077	T	.	.	.	0.188	0.46444	.	.	.	.	0.4174972918572176	0.41665	0.218615771125	0.24401	0.259455680847	0.04827	T	0.414242	0.76786	T	-0.531236	0.00378	T	-0.39204	0.34312	T	0.0032045131440866	0.00034	T	0.60024	0.22396	T	0.28302434	0.51337	0.20696844	0.44935	0.22008178	0.44555	0.15338038	0.36043	-4.203	0.26795	T	0.14956450594880755	0.17500	0.070	0.05060	B	.;.;.	.;.;.	0.864100	0.12365	8.904	0.9372641218980059	0.23653	0.01261	0.04425	N	AEFDBI	0.454247	0.50704	N	-1.30176004106169	0.03655	0.1636765	-1.42064976557785	0.03046	0.1413473	0.992292572482251	0.32788	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.11	-4.6	0.03148	-0.090000	0.11129	-0.358000	0.09695	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.420000	0.27228	0.5017:0.0:0.3766:0.1217	5.957	0.18512	988	0.01987	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	F7|F7|F10|F10|F10|F7|F7|F7|F7|F7|F7|F7|F10|F7|F10|F7|F7|F10|F7|F10|F7|F7|F10|F7|F7|F10|F10|F7|F10|F7|F7|F10|F7|F7|F7|F7|F7|F7|F10	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Thyroid|Thyroid	MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L	Adipose_Subcutaneous|Artery_Tibial|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg	rs6046	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.189325	0.080808	0.174387	0.211765	0.100000	0.215517	0.189024	0.238636	0.3421	55470.2	357	chr13	113118845	.	G	A	55470.2	.	AC=13;AF=0.342;AN=38;BaseQRankSum=2.99;DP=3072;ExcessHet=0.0278;FS=0;InbreedingCoeff=0.4154;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=21.01;ReadPosRankSum=0.155;SOR=0.711	GT:AD:DP:GQ:PL	0/1:133,151:284:99:3779,0,2994	10	4	5	0
chr14	23419114	23419114	-	G	intronic	MYH7	.	.	.	Cardiomyopathy, dilated, 1S, Autosomal dominant;Cardiomyopathy, hypertrophic, 1, Autosomal dominant;Laing distal myopathy, Autosomal dominant;Left ventricular noncompaction 5, Autosomal dominant;Myopathy, myosin storage, autosomal dominant, Autosomal dominant;Myopathy, myosin storage, autosomal recessive, Autosomal recessive;Scapuloperoneal syndrome, myopathic type, Autosomal dominant	26	775	566	155	0	876	0.361088	.	.	.	45302	not_provided|Primary_familial_hypertrophic_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.337061	.	.	.	.	.	.	.	.	0.0472115	7299	154602	rs34598192	0.3369	0.3402	0.3403	0.3337	0.6339	0.3361	0.3357	0.6261	0.6230	0.6339	0.1960	0.3975	0.0549	0.2711	0.3041	0.3586	0.3420	0.2235	0.4076	0.4081	0.4199	0.3948	0.6311	0.4049	0.4038	0.6247	0.6221	0.6311	0.4068	0.2827	0.3834	0.0797	0.2623	0.3103	0.3624	0.4006	0.2148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	13691.1	34	chr14	23419114	.	T	TG	13691.1	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.025;DP=1146;ExcessHet=1.8686;FS=1.819;InbreedingCoeff=-0.0857;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=17.53;ReadPosRankSum=0.539;SOR=0.55	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1940,0,2159	10	1	8	0
chr14	53949883	53949883	-	AT	UTR3	BMP4	NM_001202:c.*148_*149insAT;NM_001347917:c.*148_*149insAT;NM_001347916:c.*148_*149insAT;NM_001347915:c.*148_*149insAT;NM_001347914:c.*148_*149insAT;NM_001347913:c.*148_*149insAT;NM_001347912:c.*148_*149insAT;NM_130851:c.*148_*149insAT;NM_130850:c.*148_*149insAT	.	.	Microphthalmia, syndromic 6, Autosomal dominant;Orofacial cleft 11	1179	237	2	4	100	110	0.0206612	.	.	.	338009	not_provided|Syndromic_Microphthalmia,_Dominant|BMP4-Related_Syndromic_Microphthalmia|Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant|Orofacial_cleft	MedGen:C3661900|MedGen:CN239443|MedGen:CN239242|MedGen:CN239161|Human_Phenotype_Ontology:HP:0000202,MONDO:MONDO:0000358,MedGen:C3266076,OMIM:PS119530	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs1491520594	0.3011	0.2939	0.3014	0.3008	0.3328	0.2998	0.2993	0.3312	0.3305	0.1195	0.1983	0.2660	0.1190	0.3395	0.2447	0.3328	0.2823	0.2251	0.4100	0.4006	0.4113	0.4085	0.5414	0.4071	0.4059	0.5366	0.5347	0.1692	0.4508	0.3476	0.4195	0.1927	0.5843	0.3811	0.5414	0.3903	0.3785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	379.62	1	chr14	53949883	.	C	CAT	379.62	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-0.524;DP=63;ExcessHet=0.4253;FS=0;InbreedingCoeff=0.1223;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0;SOR=1.255	GT:AD:DP:GQ:PL	0/1:1,2:3:23:77,0,23	10	1	1	7
chr14	54843007	54843007	G	A	UTR3	GCH1	NM_001024024:c.*64C>T;NM_001024071:c.*32C>T;NM_001024070:c.*60C>T;NM_000161:c.*1010C>T	.	.	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, Autosomal recessive, Autosomal dominant;Hyperphenylalaninemia, BH4-deficient, B, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	336166	GTP_cyclohydrolase_I_deficiency|Dystonia_5	MONDO:MONDO:0100184,MedGen:C0268467|MONDO:MONDO:0007495,MedGen:C1851920,OMIM:128230,Orphanet:98808	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	6.51e-05	0	0	0	0	6.66e-05	0	0.0002	5.17e-05	8	154602	rs764569623	9.61e-05	6.725e-05	7.99e-05	0.0001	0.0005	7.673e-05	6.972e-05	0.0004	0.0003	0	2.324e-05	0	0	0	0.0002	6.614e-05	8.845e-05	0.0005	3.286e-05	3.284e-05	2.569e-05	4.036e-05	4.827e-05	1.261e-05	7.98e-06	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	2.939e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	521.33	35	chr14	54843007	.	G	A	521.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=653;ExcessHet=0;FS=1.264;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-1.612;SOR=0.385	GT:AD:DP:GQ:PL	0/1:20,20:40:99:535,0,475	18	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	3235.81	15	chr14	95115562	.	G	A	3235.81	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.88;DP=273;ExcessHet=4.0818;FS=6.175;InbreedingCoeff=-0.2265;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=21.01;ReadPosRankSum=0.524;SOR=1.886	GT:AD:DP:GQ:PL	0/1:7,5:12:99:178,0,214	8	1	10	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	38094.6	96	chr15	34791307	.	T	TCA	38094.6	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.584;DP=2645;ExcessHet=0.1204;FS=0.924;InbreedingCoeff=0.272;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=32.9;ReadPosRankSum=-0.06;SOR=0.854	GT:AD:DP:GQ:PL	0/1:31,35:69:99:726,0,687	12	0	7	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	75303.4	194	chr15	59256276	.	C	T	75303.4	.	AC=38;AF=1;AN=38;BaseQRankSum=0.789;DP=2636;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=38;MLEAF=1;MQ=60;MQRankSum=0;QD=29.07;ReadPosRankSum=0.667;SOR=0.174	GT:AD:DP:GQ:PL	1/1:0,142:142:99:4004,426,0	0	19	0	0
chr15	68207979	68207979	-	AC	UTR3	CLN6	NM_017882:c.*160_*161insGT	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	323238	not_provided|Neuronal_Ceroid-Lipofuscinosis,_Recessive	MedGen:C3661900|MedGen:CN239323	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.334465	.	.	.	.	.	.	.	.	0.0030352	79	26028	rs138882836	0.3617	0.3201	0.3572	0.3657	0.5137	0.3603	0.3597	0.5067	0.5038	0.1449	0.3834	0.3623	0.5137	0.3802	0.3685	0.3407	0.3479	0.4469	0.3749	0.3760	0.3645	0.3859	0.7752	0.3723	0.3712	0.7549	0.7466	0.1625	0.5408	0.4370	0.4553	0.7752	0.4773	0.4041	0.4204	0.3920	0.6213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	2338.57	7	chr15	68207979	.	G	GAC	2338.57	.	AC=11;AF=0.393;AN=28;BaseQRankSum=-0.431;DP=87;ExcessHet=0.6653;FS=2.304;InbreedingCoeff=0.085;MLEAC=14;MLEAF=0.5;MQ=60;MQRankSum=0;QD=32.94;ReadPosRankSum=0.674;SOR=0.487	GT:AD:DP:GQ:PL	1/1:0,11:11:33:389,33,0	6	3	5	5
chr15	89294945	89294945	T	G	exonic	FANCI	.	synonymous SNV	FANCI:NM_001113378:exon24:c.T2487G:p.L829L,FANCI:NM_001376910:exon24:c.T2208G:p.L736L,FANCI:NM_001376911:exon24:c.T2487G:p.L829L	Fanconi anemia, complementation group I	0	1475	47	0	0	47	0.0156823	.	.	.	208224	not_specified|FANCI-related_disorder|not_provided|Fanconi_anemia_complementation_group_I|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053,Orphanet:84|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0018	0.0004	0.0022	0	0.0006	0.0031	0.0155	0.0006	0.0006598	102	154602	rs145762491	0.0018	0.0017	0.0017	0.0019	0.0205	0.0017	0.0017	0.0175	0.0164	0.0008	0.0035	0.0035	0	0.0008	0.0205	0.0017	0.0030	0.0010	0.0016	0.0016	0.0016	0.0016	0.0026	0.0014	0.0014	0.0020	0.0018	9.621e-05	0	0.0026	0.0060	0	0.0010	0.0170	0.0022	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	0.020095	0.031579	0.046053	0.022124	0.000000	0.000000	0.005747	0.000000	0.02632	2026.33	44	chr15	89294945	.	T	G	2026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.959;DP=824;ExcessHet=0;FS=3.732;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=0.016;SOR=0.631	GT:AD:DP:GQ:PL	0/1:71,86:157:99:2040,0,1685	18	0	1	0
chr16	3247100	3247100	G	A	exonic	MEFV	.	synonymous SNV	MEFV:NM_001198536:exon4:c.C870T:p.R290R,MEFV:NM_000243:exon5:c.C1503T:p.R501R	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	0	1483	38	1	0	40	0.0133067	.	.	.	45163	Autoinflammatory_syndrome|Acute_febrile_neutrophilic_dermatosis|not_specified|Familial_Mediterranean_fever,_autosomal_dominant|Familial_Mediterranean_fever|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0011959,MedGen:C0085077,OMIM:608068,Orphanet:3243|MedGen:CN169374|MONDO:MONDO:0007601,MedGen:C1851347,OMIM:134610,Orphanet:342|MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0030	0.0279553	0.0121	0.0037	0.0030	0.1051	0.0003	0.0036	0.0110	0.0143	0.0118239	1828	154602	rs76464258	0.0066	0.0066	0.0064	0.0068	0.0877	0.0065	0.0065	0.0853	0.0843	0.0035	0.0039	0.0179	0.0877	0.0003	0.0081	0.0029	0.0147	0.0150	0.0087	0.0087	0.0080	0.0093	0.1007	0.0083	0.0081	0.0936	0.0908	0.0043	0.0274	0.0117	0.0173	0.1007	9.416e-05	0.0102	0.0034	0.0147	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.013595	0.030303	0.006793	0.008772	0.000000	0.000000	0.006098	0.026515	0.02632	1691.33	172	chr16	3247100	.	G	A	1691.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.69;DP=1736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=1.38;SOR=0.678	GT:AD:DP:GQ:PL	0/1:73,66:139:99:1705,0,1649	18	0	1	0
chr16	3249468	3249468	C	T	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_001198536:exon2:c.G590A:p.R197Q,MEFV:NM_000243:exon3:c.G1223A:p.R408Q	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	0	1477	44	1	0	46	0.0153333	.	.	YES	17591	Inborn_genetic_diseases|Familial_Mediterranean_fever|not_specified|not_provided|Autoinflammatory_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.035	.	0.0057	0.0171725	0.0130	0.0042	0.0043	0.0541	0.0153	0.0097	0.0190	0.0144	0.0125354	1938	154602	rs11466024	0.0099	0.0099	0.0097	0.0101	0.0497	0.0098	0.0097	0.0479	0.0472	0.0041	0.0056	0.0301	0.0497	0.0140	0.0133	0.0074	0.0162	0.0152	0.0115	0.0115	0.0106	0.0125	0.0550	0.0111	0.0109	0.0498	0.0477	0.0047	0.0274	0.0157	0.0337	0.0550	0.0121	0.0306	0.0093	0.0166	0.0176	0.235	0.18000	T	0.268	0.24477	T	0.259	0.31472	B	0.045	0.24526	B	0.923697	0.07492	N	1.038830	1	0.08975	N	0.735	0.18861	N	0.95	0.43279	T	-1.02	0.27876	N	0.063	0.03502	-1.0403	0.17223	T	0.013	0.05273	T	9	0.00421834	0.00084	T	.	.	.	0.035	0.08770	.	.	.	.	0.1480056526240582	0.14722	0.143352020997	0.16180	0.187196582556	0.00179	T	0.225157	0.58980	T	-0.593918	0.00159	T	-0.578785	0.14653	T	0.00138981036744195	0.00014	T	0.49475	0.16094	T	0.037591994	0.04850	0.054800026	0.09493	0.038826443	0.05246	0.037714183	0.03484	-8.273	0.63712	D	.	.	0.094	0.15115	B	.;.;.;.	.;.;.;.	0.981175	0.13585	10.12	0.89134234003538337	0.18540	0.03690	0.08964	N	AEFDBI	0.146106	0.26948	N	-1.27601589820716	0.03966	0.178151	-1.34336738140196	0.03884	0.1821227	0.999321037669829	0.39149	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.35	-2.48	0.06052	-0.571000	0.05979	.	.	-1.081000	0.01566	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.0:0.3822:0.0:0.6178	10.011	0.41155	794	0.45591	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;.;.	.	.	.	.	rs11466024	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	619.33	34	chr16	3249468	.	C	T	619.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.386;DP=689;ExcessHet=0;FS=2.176;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.328;SOR=1.077	GT:AD:DP:GQ:PL	0/1:36,26:62:99:633,0,935	18	0	1	0
chr16	3249586	3249586	G	A	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_001198536:exon2:c.C472T:p.P158S,MEFV:NM_000243:exon3:c.C1105T:p.P369S	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	0	1479	42	1	0	44	0.0146569	.	.	YES	17590	Inborn_genetic_diseases|Familial_Mediterranean_fever|not_specified|not_provided|Autoinflammatory_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.242	.	0.0056	0.0201677	0.0142	0.0040	0.0047	0.0716	0.0155	0.0097	0.0188	0.0147	0.0137644	2128	154602	rs11466023	0.0103	0.0103	0.0101	0.0105	0.0621	0.0102	0.0101	0.0601	0.0593	0.0041	0.0057	0.0302	0.0621	0.0140	0.0132	0.0074	0.0178	0.0156	0.0122	0.0122	0.0112	0.0133	0.0729	0.0118	0.0116	0.0669	0.0645	0.0046	0.0274	0.0161	0.0337	0.0729	0.0121	0.0306	0.0094	0.0175	0.0180	0.036	0.43393	D	0.08	0.49120	T	0.959	0.55135	D	0.503	0.47728	P	0.001529	0.38731	N	0.118471	1	0.08975	N	1.63	0.41750	L	0.49	0.55775	T	-3.91	0.78553	D	0.137	0.13484	-0.9942	0.31512	T	0.016	0.06569	T	9	0.0018258095	0.00024	T	.	.	.	0.242	0.54781	.	.	.	.	0.2528296790470378	0.25196	0.458817244897	0.45486	0.332307219505	0.15283	T	0.515925	0.82978	D	-0.357339	0.04282	T	-0.219263	0.52807	T	0.0346247206697671	0.02744	T	0.791921	0.43319	T	0.08763667	0.20415	0.13715924	0.32792	0.0876844	0.20428	0.13222286	0.31734	-2.711	0.10820	T	.	.	0.091	0.16800	B	.;.;.;.	.;.;.;.	2.648742	0.34483	19.64	0.99688279629768983	0.79775	0.14461	0.18415	N	AEFBI	0.224295	0.34854	N	-0.418468547163643	0.24821	1.343001	-0.560443380227226	0.20528	1.10644	0.991550087581218	0.32528	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.22	1.12	0.19700	1.688000	0.37308	.	.	0.676000	0.76740	0.937000	0.32526	0.900000	0.27958	0.949000	0.49496	0.3542:0.0:0.6458:0.0	7.200	0.25053	794	0.45591	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019134	0.045455	0.008152	0.026316	0.000000	0.017241	0.006098	0.034091	0.02632	811.33	34	chr16	3249586	.	G	A	811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.259;DP=699;ExcessHet=0;FS=0.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.566;SOR=0.557	GT:AD:DP:GQ:PL	0/1:39,32:71:99:825,0,1072	18	0	1	0
chr16	3254626	3254626	C	G	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon2:c.G442C:p.E148Q	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	2	1242	263	15	0	293	0.10551	.	.	YES	17581	Inborn_genetic_diseases|Familial_Mediterranean_fever,_autosomal_dominant|See_cases|Familial_Mediterranean_fever|not_specified|MEFV-related_disorder|not_provided|Acute_febrile_neutrophilic_dermatosis|Systemic_lupus_erythematosus|Autoinflammatory_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007601,MedGen:C1851347,OMIM:134610,Orphanet:342|.|MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0011959,MedGen:C0085077,OMIM:608068,Orphanet:3243|Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.274	.	0.0112	0.126398	0.0900	0.0184	0.0217	0.3150	0.0013	0.0197	0.0716	0.3018	0.0641648	9920	154602	rs3743930	0.0377	0.0376	0.0305	0.0450	0.2802	0.0374	0.0373	0.2772	0.2760	0.0171	0.0133	0.0539	0.2546	0.0019	0.0650	0.0131	0.0511	0.2802	0.0329	0.0330	0.0280	0.0380	0.2988	0.0321	0.0318	0.2860	0.2808	0.0159	0	0.0191	0.0582	0.2795	0.0018	0.0714	0.0127	0.0317	0.2988	0.007	0.59928	D	0.011	0.64786	D	0.995	0.67487	D	0.851	0.60700	P	0.003372	0.35041	N	0.131490	1	0.27475	P	1.83	0.48079	L	-1.07	0.76948	T	-1.3	0.32590	N	0.125	0.11769	-1.1028	0.03768	T	0.000	0.00039	T	9	0.0055573583	0.00123	T	.	.	.	0.274	0.59007	.	.	.	.	0.514001947169189	0.51322	0.534422499708	0.50847	0.454673349857	0.32582	T	0.400125	0.75778	T	-0.397484	0.02405	T	-0.199914	0.54654	T	0.0123424584187742	0.00201	T	0.79572	0.43862	T	0.1393041	0.32184	0.087836124	0.20442	0.12762725	0.29860	0.088540226	0.20650	-4.015	0.24027	T	.	.	0.132	0.28607	B	.	.	2.968483	0.39555	21.0	0.99364470562835017	0.61155	0.13031	0.17624	N	AEFDBI	0.123919	0.23974	N	-0.142306821722336	0.35564	2.044299	-0.309833529502108	0.27781	1.543952	0.999995932073785	0.74766	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.39	3.44	0.38486	0.734000	0.25769	.	.	0.599000	0.40250	0.027000	0.20232	0.930000	0.28522	0.049000	0.15107	0.0:0.898:0.0:0.102	8.711	0.33543	779	0.47767	.	.	.	.	.	.	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	0.081149	0.051546	0.061141	0.073099	0.050000	0.068966	0.060976	0.178030	0.1579	5174.4	49	chr16	3254626	.	C	G	5174.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.23;DP=783;ExcessHet=2.0135;FS=7.489;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=0.305;SOR=0.436	GT:AD:DP:GQ:PL	0/1:26,27:53:99:698,0,645	13	0	6	0
chr16	15725134	15725134	-	A	UTR3	NDE1	NM_001143979:c.*883_*884insA;NM_017668:c.*883_*884insA	.	.	Lissencephaly 4 (with microcephaly), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	324437	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs757597336	0.1707	0.1347	0.1695	0.1717	0.2049	0.1696	0.1691	0.2010	0.1994	0.1259	0.1616	0.1633	0.1415	0.1620	0.1554	0.1727	0.1654	0.2049	0.0641	0.0652	0.0636	0.0646	0.1044	0.0629	0.0625	0.1016	0.1005	0.1044	0.1014	0.0466	0.0431	0.0185	0.0385	0.0296	0.0487	0.0662	0.0833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	2041.16	115	chr16	15725134	.	T	TA	2041.16	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.385;DP=2694;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6373;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.072;SOR=0.657	GT:AD:DP:GQ:PL	0/1:118,19:153:50:50,0,2568	11	0	8	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	3640.21	21	chr16	23445969	.	TA	T	3640.21	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.072;DP=876;ExcessHet=38.2876;FS=2.656;InbreedingCoeff=-0.8999;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=7.58;ReadPosRankSum=-0.114;SOR=0.889	GT:AD:DP:GQ:PL	0/1:12,13:33:99:258,0,221	1	0	18	0
chr16	70860121	70860121	C	T	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon71:c.G12076A:p.A4026T	Ciliary dyskinesia, primary, 5, Autosomal recessive	1	1068	453	0	0	453	0.174971	.	.	.	2839229	not_specified|Primary_ciliary_dyskinesia_5	MedGen:CN169374|MONDO:MONDO:0012088,MedGen:C1837615,OMIM:608647,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.037	0.0225746868454	.	.	.	.	.	.	.	.	.	.	0.0634317	1651	26028	rs11075798	0.0394	0.1019	0.0403	0.0385	0.0885	0.0391	0.0390	0.0854	0.0841	0.0885	0.0553	0.0317	0.0242	0.0367	0.0556	0.0402	0.0356	0.0177	0.0073	0.0345	0.0069	0.0078	0.0166	0.0070	0.0068	0.0154	0.0150	0.0166	0.0027	0.0062	0.0050	0.0056	0.0049	0	0.0037	0.0078	0.0023	0.897	0.02442	T	.	.	.	.	.	.	.	.	.	0.005716	0.32572	U	0.000000	0.804833	0.29071	N	1.76	0.45711	L	5.45	0.00969	T	-1.07	0.27876	N	0.132	0.12770	-0.6743	0.61634	T	0.003	0.01059	T	10	0.1010932	0.18449	T	0.022575	0.45482	T	0.037	0.09474	0.117	0.02508	0.0401082797425	0.02173	0.19250575897775737	0.19168	.	.	0.353295892477	0.18406	T	0.054064	0.29619	T	-0.236823	0.15757	T	-0.577957	0.14727	T	0.767720818519592	0.44303	D	.	.	.	0.0855957	0.19863	0.091075234	0.21393	0.0855957	0.19862	0.091075234	0.21393	-4.298	0.28149	T	.	.	0.096	0.15251	B	.	.	2.662526	0.34688	19.70	0.89959342871089099	0.19254	0.59907	0.31045	D	AEFBI	0.107291	0.21381	N	-0.24189496805192	0.31428	1.762157	-0.118700817344249	0.34636	1.99462	0.999895138418875	0.45129	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.51	2.34	0.28071	1.133000	0.31043	0.913000	0.22643	0.599000	0.40250	0.843000	0.30332	0.824000	0.27153	0.971000	0.54645	0.1289:0.727:0.0:0.1441	8.319	0.31276	550	0.72197	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1842	2088.34	36	chr16	70860121	.	C	T	2088.34	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-1.073;DP=1570;ExcessHet=2.9153;FS=8.264;InbreedingCoeff=-0.225;MLEAC=7;MLEAF=0.184;MQ=47.99;MQRankSum=-5.379;QD=2.36;ReadPosRankSum=3.22;SOR=1.35	GT:AD:DP:GQ:PL	0/1:82,28:110:99:425,0,2235	12	0	7	0
chr16	72788114	72788134	GCTGCTGCTGCTGTAGTTGCC	-	exonic	ZFHX3	.	nonframeshift deletion	ZFHX3:NM_001164766:exon9:c.7400_7420del:p.R2467_Q2473del,ZFHX3:NM_006885:exon10:c.10142_10162del:p.R3381_Q3387del	.	.	.	.	.	.	.	.	.	.	.	797385	not_provided|ZFHX3-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0079	.	0.0041	0.0008	0.0025	0.0005	0.0031	0.0057	0.0035	0.0030	0.0006916	18	26028	rs774837696	0.0044	0.0044	0.0045	0.0043	0.0047	0.0043	0.0042	0.0046	0.0046	0.0008	0.0023	0.0115	0.0004	0.0039	0.0010	0.0047	0.0041	0.0026	0.0030	0.0030	0.0032	0.0027	0.0045	0.0027	0.0027	0.0041	0.0039	0.0008	0	0.0024	0.0101	0.0002	0.0026	0.0069	0.0045	0.0033	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1994.29	35	chr16	72788113	.	TGCTGCTGCTGCTGTAGTTGCC	T	1994.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.567;DP=884;ExcessHet=0;FS=6.562;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.99;ReadPosRankSum=-0.252;SOR=0.99	GT:AD:DP:GQ:PL	0/1:44,51:95:99:2008,0,1685	18	0	1	0
chr16	89816740	89816740	-	GGCCTTGCGTCGT	upstream	FANCA	dist=93	.	.	Fanconi anemia, complementation group A, Autosomal recessive	50	1018	318	136	0	590	0.224676	.	.	.	208324	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.522963	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs11275235	0.2739	0.2644	0.2665	0.2809	0.9576	0.2728	0.2723	0.9471	0.9428	0.4104	0.4624	0.1766	0.9576	0.3603	0.2057	0.2121	0.3030	0.4074	0.3957	0.3973	0.3848	0.4071	0.9688	0.3931	0.3920	0.9463	0.9370	0.4731	0.2539	0.4650	0.1948	0.9688	0.3791	0.1747	0.3009	0.3658	0.4746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1199.31	27	chr16	89816740	.	A	AGGCCTTGCGTCGT	1199.31	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.637;DP=275;ExcessHet=0.6689;FS=2.854;InbreedingCoeff=0.0466;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=16.43;ReadPosRankSum=-0.546;SOR=0.33	GT:AD:DP:GQ:PL	0/1:4,2:6:62:62,0,162	12	1	6	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	.	.	.	.	.	.	.	.	0.3947	1453.09	136	chr17	3648932	.	G	C	1453.09	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.833;DP=2002;ExcessHet=20.8569;FS=327.302;InbreedingCoeff=-0.6585;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=1.11;SOR=11.838	GT:AD:DP:GQ:PL	0/1:59,36:111:99:116,0,674	4	0	15	0
chr17	16952474	16952474	C	G	exonic	TNFRSF13B	.	nonsynonymous SNV	TNFRSF13B:NM_012452:exon2:c.G171C:p.Q57H	Immunodeficiency, common variable, 2, Autosomal recessive, Autosomal dominant;Immunoglobulin A deficiency 2	2	1517	3	0	0	3	0.000987817	.	.	.	844740	not_provided|Immunodeficiency,_common_variable,_2|TNFRSF13B-related_disorder	MedGen:C3661900|MONDO:MONDO:0009413,MedGen:C3150354,OMIM:240500,Orphanet:1572|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.221	0.0617061990022	0.0002	.	0.0003	0	0	0.0001	0	0.0003	0.0011	0.0009	0.0002975	46	154602	rs149084717	0.0002	0.0002	0.0002	0.0003	0.0011	0.0002	0.0002	0.0010	0.0009	2.987e-05	0.0001	0.0002	2.519e-05	0	0.0010	0.0002	0.0003	0.0011	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	2.405e-05	0	0.0003	0	0	0	0.0034	0.0003	0	0.0004	0.121	0.27783	T	0.14	0.33554	T	0.995	0.67487	D	0.848	0.60574	P	0.337444	0.14016	N	0.597735	1	0.08975	N	1.95	0.52479	M	-4.0	0.96339	D	-1.9	0.44284	N	0.285	0.32259	0.413	0.89294	D	0.880	0.96012	D	10	0.08330938	0.13844	T	0.061706	0.68417	D	0.221	0.51721	0.309	0.28128	0.77849948751	0.77646	0.22587528901614304	0.22502	0.0777884106708	0.08756	0.258597612381	0.04724	T	0.605257	0.87408	D	-0.182537	0.23358	T	-0.124133	0.61460	T	0.0252151817429217	0.01300	T	0.60094	0.22456	T	0.11089811	0.26208	0.07453472	0.16317	0.08547653	0.19830	0.07907799	0.17769	-4.844	0.35100	T	0.22690741608787626	0.30671	0.193	0.41280	B	.;.	.;.	1.687320	0.21502	15.23	0.48955271119825516	0.04128	0.03572	0.08784	N	AEFBCI	0.036534	0.04883	N	-0.227477237822579	0.32009	1.800758	-0.465836131590873	0.23101	1.258092	0.999922840096965	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.22	2.19	0.26890	0.737000	0.25812	1.962000	0.29942	0.419000	0.20781	0.015000	0.19116	0.981000	0.30433	0.283000	0.24091	0.0:0.7488:0.2512:0.0	8.080	0.29899	534	0.73357	TACI, cysteine-rich domain;TACI, cysteine-rich 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	0.003553	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	820.33	34	chr17	16952474	.	C	G	820.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.163;DP=715;ExcessHet=0;FS=5.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.551;SOR=0.292	GT:AD:DP:GQ:PL	0/1:29,33:62:99:834,0,705	18	0	1	0
chr17	17237171	17237171	C	G	upstream	FLCN	dist=3	.	.	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	1308	79	25	110	0	245	0.60794	.	.	.	337331	Nonpapillary_renal_cell_carcinoma|Birt-Hogg-Dube_syndrome_1|Colorectal_cancer|Familial_spontaneous_pneumothorax|FLCN-related_disorder|Birt-Hogg-Dube_syndrome|not_provided	MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MONDO:MONDO:0800445,MedGen:CN375946,OMIM:135150,Orphanet:122|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|.|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.743211	.	.	.	.	.	.	.	.	0.732019	19053	26028	rs1736209	0.8036	0.0332	0.8333	0.7812	1.0000	0.6172	0.5514	0.5955	0.5219	.	.	.	1.0000	0.7500	1.0000	0.8095	0.5000	1.0000	0.7274	0.7275	0.7224	0.7327	0.8462	0.7238	0.7223	0.8252	0.8166	0.6277	0.8495	0.7371	0.7353	0.8462	0.8738	0.6463	0.7531	0.7110	0.7266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	250.9	.	chr17	17237171	.	C	G	250.9	.	AC=8;AF=0.5;AN=16;DP=17;ExcessHet=0;FS=0;InbreedingCoeff=0.4715;MLEAC=13;MLEAF=0.813;MQ=60;QD=27.88;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,3:3:9:92,9,0	4	4	0	11
chr17	18130817	18130817	-	GTGT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	337410	not_specified|not_provided|Hearing_loss,_autosomal_recessive	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019978	52	26028	rs1491181087	0.0480	0.0698	0.0458	0.0501	0.0574	0.0476	0.0475	0.0560	0.0554	0.0490	0.0555	0.0850	0.0446	0.0711	0.0508	0.0437	0.0644	0.0574	0.1711	0.1750	0.1760	0.1654	0.1878	0.1689	0.1680	0.1846	0.1832	0.1500	0.1468	0.1764	0.2774	0.0658	0.1265	0.2198	0.1878	0.1694	0.1291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	9986.06	19	chr17	18130817	.	A	AGTGT	9986.06	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0;DP=1961;ExcessHet=0.7564;FS=2.674;InbreedingCoeff=-0.1176;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=21.11;ReadPosRankSum=-0.267;SOR=0.411	GT:AD:DP:GQ:PL	1/0:0,8:22:99:1026,358,283	14	0	5	0
chr17	18130817	18130817	-	GTGTGT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	327557	not_specified|not_provided|Hearing_loss,_autosomal_recessive	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015368	40	26028	rs1491181087	0.0309	0.0429	0.0293	0.0324	0.0457	0.0306	0.0305	0.0438	0.0430	0.0325	0.0356	0.0252	0.0457	0.0557	0.0313	0.0273	0.0398	0.0422	0.1218	0.1291	0.1239	0.1193	0.1398	0.1200	0.1192	0.1370	0.1359	0.1064	0.0505	0.1128	0.0768	0.0783	0.1064	0.1056	0.1398	0.1146	0.1030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	9986.06	19	chr17	18130817	.	A	AGTGTGT	9986.06	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0;DP=1961;ExcessHet=0.7564;FS=2.674;InbreedingCoeff=-0.1176;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=21.11;ReadPosRankSum=-0.267;SOR=0.411	GT:AD:DP:GQ:PL	0/1:0,14:22:99:1026,201,160	12	0	7	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	0.3421	15712.2	129	chr17	19909228	.	T	C	15712.2	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-0.399;DP=1420;ExcessHet=1.7862;FS=1.103;InbreedingCoeff=-0.0523;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.447;SOR=0.638	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1085,0,1107	8	2	9	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	81486.4	356	chr17	21300880	.	C	T	81486.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.85;DP=4853;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.2;ReadPosRankSum=0.156;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,119:244:99:0|1:21300875_G_T:4618,0,4705:21300875	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4729.39	9	chr17	61483613	.	A	AGTGTGTGT	4729.39	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.291;DP=510;ExcessHet=1.0583;FS=2.006;InbreedingCoeff=0.0654;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=24.01;ReadPosRankSum=0.729;SOR=1.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,4:7:60:.:.:338,84,60:.	13	0	6	0
chr17	80202434	80202434	T	A	UTR3	CARD14	NM_001257970:c.*10T>A	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	3	581	641	245	52	1183	0.49324	.	.	.	390303	not_specified|Psoriasis_2|Pityriasis_rubra_pilaris|not_provided	MedGen:CN169374|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4160	0.35623	0.4195	0.2494	0.2489	0.4706	0.4337	0.4886	0.4391	0.3357	0.411004	63542	154602	rs8069255	0.4789	0.4785	0.4821	0.4756	0.5504	0.4779	0.4775	0.5443	0.5418	0.2463	0.2746	0.4213	0.5504	0.4314	0.4130	0.5079	0.4544	0.3360	0.4042	0.4042	0.4084	0.3999	0.5012	0.4015	0.4004	0.4967	0.4949	0.2537	0.7039	0.3372	0.4129	0.4998	0.4307	0.3946	0.5012	0.4019	0.3226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	26991.2	139	chr17	80202434	.	T	A	26991.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.364;DP=1567;ExcessHet=0.463;FS=1.308;InbreedingCoeff=0.1556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=21.04;ReadPosRankSum=0.691;SOR=0.58	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2548,237,0	6	5	8	0
chr17	80205094	80205094	C	T	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_024110:exon18:c.C2458T:p.R820W,CARD14:NM_001366385:exon21:c.C2458T:p.R820W	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	50	677	568	227	0	1022	0.430135	.	.	YES	390229	Autoinflammatory_syndrome|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.108	.	0.4093	0.353035	0.4244	0.2458	0.2536	0.4728	0.4509	0.4913	0.4363	0.3466	0.416469	64387	154602	rs11652075	0.4774	0.4773	0.4804	0.4744	0.5465	0.4765	0.4761	0.5404	0.5379	0.2319	0.2729	0.4216	0.5465	0.4308	0.4053	0.5063	0.4514	0.3424	0.3995	0.3997	0.4035	0.3954	0.4991	0.3969	0.3958	0.4946	0.4928	0.2409	0.7044	0.3346	0.4127	0.4952	0.4305	0.3844	0.4991	0.4020	0.3313	0.004	0.65419	D	0.035	0.52389	D	0.912	0.50421	P	0.17	0.35299	B	0.044886	0.23592	N	0.424901	0.99932	0.21372	P	1.04	0.26193	L	3.41	0.05574	T	-3.87	0.72594	D	0.111	0.10626	-0.9523	0.40573	T	0.000	0.00011	T	9	0.00018051267	0.00010	T	.	.	.	0.108	0.30607	.	.	.	.	0.6907763373857173	0.69017	0.3656648137	0.38159	0.328153610229	0.14655	T	0.159702	0.50324	T	-0.676618	0.00050	T	-0.600871	0.12738	T	0.0284327208824887	0.01751	T	0.822018	0.48145	T	0.073126465	0.16318	0.09188487	0.21627	0.08949082	0.20911	0.07744421	0.17251	-9.283	0.69500	D	0.35371682974795465	0.45071	0.107	0.20117	B	.;.;.	.;.;.	2.706086	0.35358	19.88	0.99284288146199018	0.58008	0.56796	0.30209	D	AEFDBCI	0.414520	0.48375	N	-0.377503514459143	0.26272	1.432592	-0.419791073847034	0.24417	1.336925	0.753767999298708	0.23401	0.554377	0.28877	0	0.550933	0.16991	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.09	1.85	0.24418	2.561000	0.45567	2.570000	0.33360	-0.249000	0.07183	0.963000	0.33788	0.978000	0.30204	0.008000	0.08271	0.3814:0.4907:0.0:0.128	4.371	0.10680	862	0.33134	.;.;.	CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood	RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|SGSH|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|SGSH	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Uterus|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	rs11652075	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.422805	0.408163	0.445504	0.473684	0.350000	0.456897	0.380368	0.367424	0.4474	45386.8	286	chr17	80205094	.	C	T	45386.8	.	AC=17;AF=0.447;AN=38;BaseQRankSum=0.493;DP=2511;ExcessHet=0.1862;FS=0;InbreedingCoeff=0.2549;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=20.54;ReadPosRankSum=0.31;SOR=0.696	GT:AD:DP:GQ:PL	1/1:0,216:216:99:6264,647,0	7	5	7	0
chr18	57580222	57580222	G	A	intronic	FECH	.	.	.	Protoporphyria, erythropoietic, autosomal recessive, Autosomal recessive	2	910	527	83	0	693	0.275766	.	.	.	15589	not_provided|Jaundice|Erythema|not_specified|Protoporphyria,_erythropoietic,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000952,MedGen:C0022346|Human_Phenotype_Ontology:HP:0010783,MedGen:C0041834|MedGen:CN169374|MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2588	0.334665	0.2467	0.4468	0.4373	0.3093	0.2329	0.1736	0.2174	0.2577	0.238063	36805	154602	rs2269219	0.1942	0.1944	0.1942	0.1942	0.4542	0.1936	0.1934	0.4482	0.4457	0.4542	0.3983	0.2246	0.3662	0.2313	0.2387	0.1638	0.2062	0.2567	0.2741	0.2744	0.2705	0.2778	0.4470	0.2719	0.2710	0.4416	0.4394	0.4470	0.0822	0.3025	0.2145	0.3240	0.2456	0.3027	0.1704	0.2623	0.2512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	5992.17	36	chr18	57580222	.	G	A	5992.17	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.476;DP=678;ExcessHet=0.0419;FS=1.188;InbreedingCoeff=0.3667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=22.19;ReadPosRankSum=-0.655;SOR=0.808	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1156,105,0	13	2	4	0
chr19	1615797	1615797	G	A	exonic	TCF3	.	nonsynonymous SNV	TCF3:NM_001136139:exon17:c.C1475T:p.A492V,TCF3:NM_001351778:exon17:c.C1472T:p.A491V,TCF3:NM_001351779:exon17:c.C1475T:p.A492V,TCF3:NM_003200:exon17:c.C1475T:p.A492V	Agammaglobulinemia 8, autosomal dominant, Autosomal dominant	424	1017	76	5	0	86	0.040566	.	.	YES	1158419	Myeloproliferative_neoplasm,_unclassifiable|not_specified|not_provided	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.173	.	0.0135	0.113618	0.0527	0.0252	0.0739	0.4020	0.0054	0.0082	0.04	0.0749	0.0483176	7470	154602	rs2074888	0.0230	0.0230	0.0221	0.0239	0.3966	0.0227	0.0227	0.3913	0.3892	0.0235	0.0760	0.0511	0.3966	0.0043	0.0279	0.0039	0.0361	0.0648	0.0345	0.0348	0.0303	0.0389	0.3894	0.0337	0.0334	0.3752	0.3694	0.0238	0	0.0810	0.0533	0.3894	0.0049	0.0272	0.0051	0.0369	0.0765	0.44	0.10659	T	0.276	0.39190	T	0.001	0.07471	B	0.001	0.06944	B	0.281944	0.14929	N	0.591667	1	0.08975	P	-2.085	0.00160	N	2.56	0.40749	T	-1.2	0.30555	N	0.083	0.06190	-0.9096	0.46904	T	0.000	0.00011	T	9	0.0016615391	0.00020	T	.	.	.	0.173	0.43840	.	.	.	.	0.3109613881401042	0.31009	0.035526471803	0.03747	0.54049038887	0.44515	T	0.277887	0.65052	T	-0.558536	0.00259	T	-0.431255	0.29793	T	0.00765290591918217	0.00089	T	0.641436	0.65058	T	0.0162262	0.00184	0.024486009	0.00470	0.019261442	0.00454	0.024486009	0.00469	-5.05	0.38367	T	0.14157535223328033	0.15939	0.081	0.10883	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.446592	0.18669	13.86	0.97106520507920091	0.32392	0.09364	0.15135	N	AEFBI	0.076060	0.15291	N	-1.06210975500062	0.07351	0.3412343	-1.06223047391086	0.08454	0.4157341	0.00354975633031919	0.10169	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.1	1.92	0.24912	1.131000	0.31019	4.413000	0.43288	0.491000	0.22372	0.002000	0.15269	0.962000	0.29361	0.006000	0.07323	0.1771:0.1634:0.6595:0.0	5.487	0.16049	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1	0	0	0	0.036290	0.040404	0.029891	0.032164	0.000000	0.025862	0.018405	0.064394	0.05263	2832.83	38	chr19	1615797	.	G	A	2832.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.36;DP=886;ExcessHet=0.119;FS=3.078;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.227;SOR=0.932	GT:AD:DP:GQ:PL	0/1:33,58:91:99:1467,0,722	17	0	2	0
chr19	5831623	5831623	G	T	exonic	FUT6	.	stopgain	FUT6:NM_001040701:exon2:c.C945A:p.Y315X,FUT6:NM_001381957:exon2:c.C945A:p.Y315X,FUT6:NM_000150:exon3:c.C945A:p.Y315X,FUT6:NM_001381955:exon3:c.C945A:p.Y315X,FUT6:NM_001381959:exon3:c.C945A:p.Y315X,FUT6:NM_001369502:exon4:c.C945A:p.Y315X,FUT6:NM_001369504:exon4:c.C945A:p.Y315X,FUT6:NM_001369505:exon4:c.C945A:p.Y315X,FUT6:NM_001381956:exon4:c.C945A:p.Y315X,FUT6:NM_001381958:exon5:c.C945A:p.Y315X	Fucosyltransferase 6 deficiency	2	1482	36	2	0	40	0.0133156	.	.	.	227409	not_provided|Fucosyltransferase_6_deficiency	MedGen:C3661900|MONDO:MONDO:0013462,MedGen:C3151219,OMIM:613852	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0056	0.0289537	0.0177	0.0033	0.0047	0.0690	0.0009	0.0068	0.0191	0.0595	0.0157566	2436	154602	rs145035679	0.0100	0.0100	0.0084	0.0115	0.0561	0.0098	0.0098	0.0548	0.0543	0.0022	0.0054	0.0253	0.0488	0.0011	0.0148	0.0050	0.0178	0.0561	0.0085	0.0085	0.0079	0.0090	0.0620	0.0081	0.0079	0.0565	0.0543	0.0031	0.0055	0.0063	0.0268	0.0620	0.0011	0	0.0052	0.0095	0.0531	.	.	.	.	.	.	.	.	.	.	.	.	0.000060	0.53742	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.712	0.71498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23637	0.77319	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive|Recessive	.;.;.;.;High|High	7.770720	0.96845	36	0.99036869004821815	0.50939	0.95893	0.66609	D	AEFBI	0.105420	0.21064	N	0.295419678082104	0.55916	3.755734	-0.0017376384826292	0.39638	2.35322	0.891894201422631	0.25870	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.11	3.11	0.34883	2.739000	0.47083	1.247000	0.25145	0.595000	0.32841	0.997000	0.40164	0.999000	0.35428	0.086000	0.17578	0.0:0.0:1.0:0.0	12.435	0.54931	970	0.06235	.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015625	0.010101	0.020380	0.005848	0.000000	0.025862	0.003067	0.026515	0.07895	7924.79	34	chr19	5831623	.	G	T	7924.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.74;DP=1346;ExcessHet=0.3672;FS=1.108;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=55.19;MQRankSum=0.874;QD=13.3;ReadPosRankSum=0.378;SOR=0.609	GT:AD:DP:GQ:PL	0/1:94,67:161:99:1772,0,2699	16	0	3	0
chr19	33301849	33301851	GGC	-	exonic	CEBPA	.	nonframeshift deletion	CEBPA:NM_001285829:exon1:c.207_209del:p.P70del,CEBPA:NM_001287424:exon1:c.669_671del:p.P224del,CEBPA:NM_001287435:exon1:c.522_524del:p.P175del,CEBPA:NM_004364:exon1:c.564_566del:p.P189del	Leukemia, acute myeloid, somatic	26	1477	19	0	0	19	0.00639085	.	.	.	647908	Hereditary_cancer-predisposing_syndrome|not_provided|CEBPA-related_disorder|Acute_myeloid_leukemia|Inborn_genetic_diseases	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0460	.	0.0275	0.0526	0.125	0	.	0.0311	0	0.0260	0.0001153	3	26028	rs781757114	0.0020	0.0126	0.0018	0.0023	0.0085	0.0020	0.0019	0.0078	0.0075	0.0015	0.0085	0.0042	0.0020	0.0052	0.0036	0.0015	0.0028	0.0085	2.702e-05	0.0001	1.316e-05	4.161e-05	4.879e-05	8.31e-06	5.26e-06	8.09e-06	3.03e-06	4.879e-05	0	0	0.0003	0	0	0	1.506e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021311	0.007812	0.000000	0.034884	0.000000	0.000000	0.040323	0.015152	0.02632	43.29	29	chr19	33301848	.	GGGC	G	43.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.03;DP=514;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=-1.326;SOR=1.132	GT:AD:DP:GQ:PL	0/1:23,3:26:57:57,0,956	18	0	1	0
chr19	35845358	35845358	G	A	intronic	NPHS1	.	.	.	Nephrotic syndrome, type 1, Autosomal recessive	0	1508	14	0	0	14	0.00462046	.	.	.	256870	not_provided|Atypical_hemolytic-uremic_syndrome|Congenital_nephrotic_syndrome|not_specified|Finnish_congenital_nephrotic_syndrome	MedGen:C3661900|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|Human_Phenotype_Ontology:HP:0008677,MONDO:MONDO:0002350,MeSH:C535761,MedGen:C3501848,OMIM:PS256300|MedGen:CN169374|MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0111	0.00319489	0.0089	0.0031	0.0041	0	0.0018	0.0139	0.0157	0.0031	0.0092625	1432	154602	rs76131336	0.0139	0.0139	0.0142	0.0137	0.0163	0.0137	0.0137	0.0161	0.0160	0.0022	0.0063	0.0211	2.519e-05	0.0030	0.0103	0.0163	0.0124	0.0034	0.0100	0.0100	0.0108	0.0091	0.0159	0.0095	0.0094	0.0151	0.0148	0.0031	0.0363	0.0093	0.0213	0	0.0021	0	0.0159	0.0118	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1352.33	34	chr19	35845358	.	G	A	1352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.187;DP=726;ExcessHet=0;FS=3.105;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=-1.321;SOR=0.391	GT:AD:DP:GQ:PL	0/1:34,52:86:99:1366,0,836	18	0	1	0
chr19	40718299	40718299	G	C	intronic	ITPKC	.	.	.	.	414	862	226	20	0	266	0.133668	.	.	.	19316	Reclassified_-_variant_of_unknown_significance|ITPKC-related_disorder	.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0885	0.0858626	0.1244	0.0338	0.1971	0.0711	0.1537	0.1280	0.1286	0.1256	0.110277	17049	154602	rs28493229	0.1280	0.1232	0.1279	0.1281	0.1858	0.1275	0.1273	0.1816	0.1799	0.0275	0.1858	0.1039	0.1200	0.1451	0.1115	0.1299	0.1233	0.1253	0.1023	0.1024	0.1009	0.1038	0.1441	0.1010	0.1004	0.1391	0.1370	0.0322	0.0274	0.1441	0.1144	0.0744	0.1514	0.1156	0.1295	0.0993	0.1182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1842	22897.4	33	chr19	40718299	.	G	C	22897.4	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.026;DP=2326;ExcessHet=2.9153;FS=0.522;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.239;SOR=0.743	GT:AD:DP:GQ:PL	0/1:140,128:268:99:3162,0,3765	12	0	7	0
chr19	44704143	44704143	G	A	exonic	CEACAM16	.	nonsynonymous SNV	CEACAM16:NM_001039213:exon4:c.G508A:p.A170T	Deafness, autosomal dominant 4B, Autosomal dominant	0	1500	19	3	0	25	0.00826446	.	.	.	231033	CEACAM16-related_disorder|not_provided|not_specified|Inborn_genetic_diseases	.|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.031	0.00843002507967	0.0018	0.00139776	0.0035	0.0006	0.0024	0	0.0006	0.0041	0.0027	0.0048	0.0016041	248	154602	rs200297676	0.0019	0.0019	0.0019	0.0020	0.0046	0.0019	0.0018	0.0035	0.0034	0.0003	0.0006	0.0002	0	0.0003	0.0046	0.0021	0.0016	0.0038	0.0011	0.0011	0.0011	0.0011	0.0023	0.0010	0.0010	0.0016	0.0015	0.0004	0	0.0007	0	0	0.0002	0.0034	0.0019	0.0009	0.0023	0.026	0.46910	D	0.293	0.20811	T	.	.	.	.	.	.	0.007309	0.31472	U	0.000000	1	0.08975	N	0.18	0.09070	N	2.64	0.12780	T	-0.64	0.18670	N	0.111	0.12341	-1.0257	0.21853	T	0.016	0.06521	T	10	0.007554978	0.00172	T	0.00843	0.22307	T	0.031	0.07369	.	.	0.0401082797425	0.02173	0.18168687625648638	0.18087	0.138606536157	0.15631	0.374289065599	0.21444	T	0.009598	0.08729	T	-0.71898	0.00028	T	-0.805822	0.01761	T	0.00359737329949194	0.00038	T	0.611339	0.23205	T	0.10498466	0.24821	0.11019726	0.26567	0.11373119	0.26857	0.0892798	0.20867	-3.973	0.23398	T	0.12340982727522032	0.11955	0.065	0.01909	B	.;.	.;.	0.793962	0.11644	8.230	0.98898820037583401	0.48145	0.03045	0.07938	N	AEFDBI	0.075955	0.15269	N	-1.03529815266814	0.07879	0.3675158	-1.09611235001062	0.07776	0.3796012	0.100721546774015	0.16360	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.93	-3.29	0.04706	-0.281000	0.08489	.	.	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.116000	0.19000	0.3337:0.2921:0.3742:0.0	5.015	0.13672	628	0.65206	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	737.33	36	chr19	44704143	.	G	A	737.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.254;DP=705;ExcessHet=0;FS=3.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=1.32;SOR=1.112	GT:AD:DP:GQ:PL	0/1:34,32:66:99:751,0,781	18	0	1	0
chr19	55154042	55154042	C	T	exonic	TNNI3	.	unknown	UNKNOWN	Cardiomyopathy, dilated, 1FF;Cardiomyopathy, familial restrictive, 1, Autosomal dominant;Cardiomyopathy, hypertrophic, 7, Autosomal dominant	14	1118	329	61	0	451	0.167845	.	.	YES	52561	Cardiovascular_phenotype|not_specified|Hypertrophic_cardiomyopathy|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|Dilated_cardiomyopathy_2A|Cardiomyopathy|Cardiomyopathy,_familial_restrictive,_1|Hypertrophic_cardiomyopathy_7|Primary_ciliary_dyskinesia	MedGen:CN230736|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN239247|MONDO:MONDO:0012746,MedGen:C2678474,OMIM:611880,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0007270,MedGen:C1861861,OMIM:115210,Orphanet:75249|MONDO:MONDO:0013369,MedGen:C1860752,OMIM:613690|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0485	0.0477236	0.0660	0.0124	0.0333	0.0448	0.0631	0.0718	0.0944	0.1065	0.0637314	9853	154602	rs3729841	0.0678	0.0679	0.0658	0.0699	0.1603	0.0675	0.0673	0.1510	0.1473	0.0123	0.0360	0.0934	0.0259	0.0627	0.1603	0.0680	0.0744	0.1089	0.0510	0.0512	0.0507	0.0512	0.1023	0.0500	0.0496	0.0949	0.0919	0.0122	0.1086	0.0409	0.0968	0.0417	0.0598	0.1463	0.0686	0.0696	0.1023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.131923	0.080808	0.118207	0.178363	0.100000	0.086207	0.143293	0.128788	0.2368	17634.8	33	chr19	55154042	.	C	T	17634.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.546;DP=1491;ExcessHet=1.1637;FS=1.116;InbreedingCoeff=-0.0192;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=-0.644;SOR=0.594	GT:AD:DP:GQ:PL	0/1:85,71:156:99:1784,0,2251	11	1	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	9538.71	71	chr19	57231146	.	G	GC	9538.71	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.183;DP=1031;ExcessHet=0.233;FS=0.547;InbreedingCoeff=0.229;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=-0.241;SOR=0.744	GT:AD:DP:GQ:PL	0/1:40,29:69:99:737,0,1098	8	4	7	0
chr20	63690835	63690835	G	T	exonic	RTEL1	.	nonsynonymous SNV	RTEL1:NM_001283010:exon26:c.G1775T:p.S592I,RTEL1:NM_001283009:exon27:c.G2444T:p.S815I,RTEL1:NM_016434:exon27:c.G2444T:p.S815I,RTEL1:NM_032957:exon27:c.G2516T:p.S839I	Dyskeratosis congenita, autosomal dominant 4, Autosomal recessive, Autosomal dominant;Dyskeratosis congenita, autosomal recessive 5, Autosomal recessive, Autosomal dominant;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, Autosomal dominant	429	1092	1	0	0	1	0.000457666	.	.	.	533684	Dyskeratosis_congenita|not_provided|RTEL1-related_disorder|Dyskeratosis_congenita,_autosomal_recessive_5|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3	MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MedGen:C3661900|.|MONDO:MONDO:0014076,MedGen:C3554656,OMIM:615190|MONDO:MONDO:0014613,MedGen:C4225346,OMIM:616373,Orphanet:2032	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	0.0009	0.000998403	0.0018	0.0005	0.0006	0	0.0149	0.0024	0.0020	0	0.0011449	177	154602	rs150461578	0.0017	0.0017	0.0017	0.0017	0.0017	0.0017	0.0016	0.0017	0.0017	0.0004	0.0016	0.0005	0	0.0069	0.0017	0.0017	0.0014	1.173e-05	0.0017	0.0017	0.0014	0.0021	0.0023	0.0016	0.0015	0.0020	0.0019	0.0004	0	0.0014	0.0012	0	0.0058	0	0.0023	0.0028	0	0.037	0.68238	D	0.072	0.56640	T	0.075	0.37787	B	0.068	0.41006	B	0.070908	0.21508	N	0.548037	0.997527	0.22623	N	2.475	0.71894	M	2.88	0.10291	T	-3.4	0.67014	D	0.457	0.50327	-1.0530	0.13574	T	0.030	0.12892	T	10	0.0042290688	0.00084	T	.	.	.	0.047	0.12962	.	.	0.356364620521	0.35248	0.41054326372910854	0.40970	.	.	0.432211667299	0.29510	T	0.534634	0.83957	D	-0.482503	0.00715	T	-0.472025	0.25298	T	0.0339921006826427	0.02636	T	0.831417	0.50110	T	0.13018629	0.30385	0.14204183	0.33806	0.14836971	0.33875	0.13731408	0.32824	-6.805	0.53727	T	0.4227746478651287	0.51128	0.116	0.28492	B	.;.;.;.;.	.;.;.;.;.	1.740375	0.22144	15.50	0.99270637234239612	0.57559	0.75866	0.37169	D	AEFDGBHCI	0.128861	0.24681	N	-0.49882882861519	0.22119	1.178843	-0.503949485305626	0.22046	1.195493	0.999990741468573	0.74766	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.77	1.67	0.23149	0.958000	0.28825	0.895000	0.22503	-0.123000	0.13640	0.103000	0.22855	0.043000	0.21642	0.251000	0.23288	0.2533:0.1454:0.6012:0.0	5.579	0.16521	.	.	.;.;.;.;.	.	.	.	.	.	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	0.002028	0.010309	0.001362	0.005988	0.000000	0.000000	0.003086	0.000000	0.02632	695.33	33	chr20	63690835	.	G	T	695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.151;DP=752;ExcessHet=0;FS=1.697;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.75;ReadPosRankSum=-0.683;SOR=0.926	GT:AD:DP:GQ:PL	0/1:68,35:103:99:709,0,1627	18	0	1	0
chr22	18918346	18918346	G	A	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon11:c.C1073T:p.T358M,LOC102724788:NM_001368249:exon11:c.C1397T:p.T466M,LOC102724788:NM_001368250:exon11:c.C1073T:p.T358M,PRODH:NM_016335:exon11:c.C1397T:p.T466M	.	0	1498	23	1	0	25	0.00827541	.	.	YES	19052	Proline_dehydrogenase_deficiency|Schizophrenia_4|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MONDO:MONDO:0010943,MedGen:C1833247,OMIM:600850|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	.	0.0026	.	0.0057	0.0030	0.0035	0.0201	0.0026	0.0032	0.0055	0.0122	0.0050646	783	154602	rs2870984	0.0048	0.0037	0.0047	0.0049	0.0173	0.0046	0.0045	0.0160	0.0154	0.0023	0.0038	0.0106	0.0173	0.0007	0.0079	0.0020	0.0052	0.0058	0.0037	0.0045	0.0035	0.0040	0.0143	0.0031	0.0029	0.0080	0.0062	0.0036	0	0.0038	0.0133	0.0109	0.0014	0.0102	0.0019	0.0026	0.0143	0.01	0.56456	D	0.017	0.60337	D	0.853	0.47048	P	0.352	0.42883	B	0.000032	0.55875	D	0.157576	0.967669	0.38609	A	.	.	.	1.51	0.30937	T	-3.45	0.68764	D	0.449	0.49783	-0.7207	0.59429	T	0.116	0.40942	T	10	0.011515439	0.00251	T	.	.	.	0.161	0.41658	.	.	0.0401082797425	0.02173	0.6173264318784245	0.61664	0.385115291346	0.39804	0.508698225021	0.40040	T	0.353269	0.72058	T	-0.401173	0.02275	T	-0.334754	0.40938	T	0.0778350368241577	0.09707	T	0.952705	0.81989	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32874	B	.;.;.;.	.;.;.;.	4.926528	0.81191	27.5	0.99892332221749813	0.96589	0.89442	0.49909	D	AEFDBI	0.758511	0.69713	D	0.467202557692036	0.65185	4.790913	0.42067817372036	0.62853	4.50817	0.926051994528804	0.26837	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.21	3.1	0.34780	4.616000	0.60900	6.448000	0.55667	0.303000	0.18983	1.000000	0.71638	1.000000	0.68203	0.759000	0.36109	0.0:0.0:0.8108:0.1892	10.854	0.45998	923	0.18507	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase 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	0.012639	0.005051	0.012228	0.005882	0.050000	0.034483	0.015528	0.003817	0.05263	1548.83	33	chr22	18918346	.	G	A	1548.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.49;DP=864;ExcessHet=0.119;FS=5.511;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=56.89;MQRankSum=-4.343;QD=8.56;ReadPosRankSum=0.943;SOR=1.1	GT:AD:DP:GQ:PL	0/1:61,15:76:99:246,0,1532	17	0	2	0
chr22	26477019	26477019	T	C	exonic	HPS4	.	nonsynonymous SNV	HPS4:NM_152841:exon2:c.A235G:p.I79V,HPS4:NM_001349896:exon4:c.A250G:p.I84V,HPS4:NM_001349899:exon4:c.A250G:p.I84V,HPS4:NM_001349900:exon4:c.A250G:p.I84V,HPS4:NM_001349901:exon4:c.A250G:p.I84V,HPS4:NM_001349902:exon4:c.A250G:p.I84V,HPS4:NM_001349903:exon4:c.A250G:p.I84V,HPS4:NM_001349904:exon4:c.A250G:p.I84V,HPS4:NM_001349905:exon4:c.A250G:p.I84V,HPS4:NM_022081:exon4:c.A250G:p.I84V,HPS4:NM_001349898:exon5:c.A250G:p.I84V	Hermansky-Pudlak syndrome 4	0	1441	75	6	0	87	0.0293028	.	.	.	208784	Hermansky-Pudlak_syndrome|not_specified|not_provided|Hermansky-Pudlak_syndrome_4	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013556,MedGen:C3484357,OMIM:614073,Orphanet:231500,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.241	0.0623340178287	0.0033	0.00319489	0.0047	0.0008	0.0044	0	0.0005	0.0060	0.0088	0.0058	0.0044566	689	154602	rs149830675	0.0041	0.0041	0.0039	0.0044	0.0522	0.0040	0.0040	0.0473	0.0454	0.0010	0.0055	0.0139	5.038e-05	0.0007	0.0522	0.0038	0.0051	0.0058	0.0034	0.0034	0.0032	0.0036	0.0083	0.0032	0.0031	0.0063	0.0055	0.0007	0	0.0067	0.0138	0.0002	0.0006	0.0306	0.0039	0.0085	0.0083	0.784	0.03961	T	0.669	0.06490	T	0.003	0.11197	B	0.006	0.12133	B	0.252946	0.15471	N	0.647105	0.999999	0.08975	N	-0.255	0.03828	N	-2.39	0.88377	D	-0.13	0.08971	N	0.135	0.13198	-0.8639	0.50981	T	0.288	0.65968	T	10	0.005489439	0.00121	T	0.062334	0.68619	D	0.241	0.54641	.	.	0.351830644314	0.34792	0.24602720115319746	0.24516	0.0420540668612	0.04528	0.254519402981	0.04258	T	0.089147	0.38311	T	-0.430818	0.01466	T	-0.389836	0.34570	T	0.00123692600673586	0.00012	T	0.539746	0.18485	T	0.016885735	0.00230	0.03104766	0.01641	0.011325766	0.00016	0.025522374	0.00600	-5.249	0.39435	T	.	.	0.064	0.02091	B	.;.;.;.	.;.;.;.	-4.306508	0.00000	0.001	0.45153967050783667	0.03523	0.03203	0.08199	N	AEDGBCI	0.039190	0.05656	N	-2.06045918445669	0.00156	0.006693053	-2.15293289425116	0.00143	0.006274361	0.999999999999995	0.74766	0.719381	0.83141	0	0.662677	0.63036	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.43	-10.9	0.00151	-2.990000	0.00722	-20.000000	0.00162	-1.438000	0.01107	0.000000	0.06391	0.000000	0.08366	0.184000	0.21420	0.0:0.7341:0.0703:0.1957	21.803	0.99963	966	0.07191	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.038771	0.025253	0.048913	0.064327	0.000000	0.086207	0.024390	0.007576	0.02632	1384.33	34	chr22	26477019	.	T	C	1384.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.457;DP=760;ExcessHet=0;FS=2.162;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.911;SOR=0.53	GT:AD:DP:GQ:PL	0/1:72,63:135:99:1398,0,1738	18	0	1	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	0.5526	42702.2	207	chr22	43946236	.	A	G	42702.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-1.131;DP=2664;ExcessHet=3.6106;FS=0;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=17.34;ReadPosRankSum=-0.233;SOR=0.682	GT:AD:DP:GQ:PL	0/1:84,79:163:99:1978,0,2021	3	5	11	0
chr22	50523649	50523649	G	T	exonic	SCO2	.	synonymous SNV	SCO2:NM_001169109:exon2:c.C763A:p.R255R,SCO2:NM_001169110:exon2:c.C763A:p.R255R,SCO2:NM_001169111:exon2:c.C763A:p.R255R,SCO2:NM_005138:exon2:c.C763A:p.R255R	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, Autosomal recessive;Myopia 6, Autosomal dominant	1	1501	20	0	0	20	0.00661813	.	.	YES	142790	not_provided|Fatal_Infantile_Cardioencephalomyopathy|Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1|not_specified|Mitochondrial_complex_IV_deficiency,_nuclear_type_1	MedGen:C3661900|MedGen:CN239235|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377,Orphanet:1561|MedGen:CN169374|MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0086	0.00179712	0.0058	0.0011	0.0033	0	0.0023	0.0091	0.0055	0.0020	0.0059378	918	154602	rs112793292	0.0090	0.0090	0.0092	0.0088	0.0108	0.0089	0.0088	0.0107	0.0106	0.0015	0.0025	0.0034	0	0.0038	0.0018	0.0108	0.0080	0.0020	0.0058	0.0058	0.0065	0.0050	0.0105	0.0054	0.0053	0.0098	0.0096	0.0015	0.0011	0.0033	0.0029	0	0.0024	0.0034	0.0105	0.0038	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	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.05263	2321.83	40	chr22	50523649	.	G	T	2321.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.74;DP=843;ExcessHet=0.119;FS=1.186;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=1.78;SOR=0.594	GT:AD:DP:GQ:PL	0/1:47,37:84:99:996,0,1198	17	0	2	0
chrX	44312629	44312629	C	T	exonic	EFHC2	.	nonsynonymous SNV	EFHC2:NM_025184:exon2:c.G170A:p.C57Y	.	428	1090	4	0	0	4	0.0018315	.	.	.	717790	Ornithine_carbamoyltransferase_deficiency|not_provided	MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.085	.	0.0133	0.0103311	0.0070	0.0252	0.0059	0	0	0.0071	0.0069	0.0004	0.0062548	967	154602	rs61636783	0.0069	0.0069	0.0070	0.0066	0.0214	0.0067	0.0067	0.0200	0.0194	0.0214	0.0068	0.0052	3.321e-05	0.0002	0.0198	0.0073	0.0076	0.0005	0.0116	0.0118	0.0122	0.0101	0.0235	0.0110	0.0108	0.0221	0.0215	0.0235	0	0.0125	0.0053	0	0.0002	0.0324	0.0071	0.0216	0.0015	0.094	0.31383	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.315254	0.14364	N	0.693381	1	0.08975	N	-1.935	0.00224	N	-0.25	0.67011	T	-4.91	0.81595	D	0.025	0.00485	-1.0102	0.26854	T	0.042	0.17910	T	10	0.00273633	0.00043	T	.	.	.	0.085	0.24743	.	.	0.043077524339	0.03247	0.5445995056804553	0.54385	0.142645975225	0.16090	0.289171367884	0.08802	T	0.001489	0.00943	T	-0.754422	0.00016	T	-0.838866	0.01116	T	0.00807517697736654	0.00096	T	0.544446	0.18591	T	0.025822299	0.01563	0.10802222	0.26015	0.025822299	0.01563	0.10802222	0.26014	-3.642	0.18466	T	.	.	0.049	0.00120	B	.	.	-0.500999	0.01864	0.151	0.33324148922181324	0.01979	0.01827	0.05674	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999682557032	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.42	2.93	0.33092	0.911000	0.28206	0.093000	0.14542	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.016000	0.10718	0.2652:0.0829:0.1358:0.5161	1.846	0.02967	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028532	0.095238	0.040816	0.015810	0.000000	0.011765	0.000000	0.000000	0.02632	1961.33	35	chrX	44312629	.	C	T	1961.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.94;DP=819;ExcessHet=0;FS=3.446;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.905;SOR=0.982	GT:AD:DP:GQ:PL	0/1:99,81:180:99:1975,0,2628	18	0	1	0
chrX	71132767	71132767	-	CTCTT	intronic	MED12	.	.	.	Lujan-Fryns syndrome, X-linked recessive;Ohdo syndrome, X-linked, X-linked recessive;Opitz-Kaveggia syndrome, X-linked recessive	.	.	.	.	.	.	.	.	.	.	101149	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs1219529434	0.0956	0.0966	0.0997	0.0853	0.2167	0.0949	0.0946	0.2117	0.2096	0.0541	0.1017	0.0779	0.2167	0.1543	0.0965	0.0813	0.1061	0.1351	0.1337	0.1587	0.1476	0.0804	0.2432	0.1317	0.1309	0.2274	0.2211	0.0805	0.2113	0.1239	0.1098	0.2432	0.1334	0.1111	0.1574	0.1283	0.1640	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	27814.0	89	chrX	71132767	.	C	CCTCTT	27814.0	.	AC=6;AF=0.167;AN=36;BaseQRankSum=0.476;DP=1134;ExcessHet=0;FS=0;InbreedingCoeff=0.7139;MLEAC=7;MLEAF=0.194;MQ=59.97;MQRankSum=0;QD=29.99;ReadPosRankSum=2.27;SOR=0.601	GT:AD:DP:GQ:PL	0/1:0,8:45:99:1695,1386,1363	14	2	2	1
chrX	108539753	108539753	A	G	exonic	COL4A5	.	nonsynonymous SNV	COL4A5:NM_000495:exon2:c.A89G:p.Y30C	Alport syndrome, X-linked dominant	3	1514	1	4	0	9	0.00296345	.	.	YES	490707	COL4A5-related_disorder|not_provided|X-linked_Alport_syndrome	.|MedGen:C3661900|MONDO:MONDO:0010520,MedGen:C4746986,OMIM:301050,Orphanet:63,Orphanet:88917	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.447	0.0448715914512	0.0002	0.000794702	0.0003	0.0002	0	0	0	0.0001	0.0063	0.0017	0.0003363	52	154602	rs150305490	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	7.593e-05	0	0	0	2.472e-05	0.0007	7.863e-05	0.0003	0.0016	0.0001	0.0002	0.0001	0.0002	0.0023	8.277e-05	6.698e-05	0.0010	0.0007	3.26e-05	0	0	0	0	0.0002	0	9.427e-05	0.0013	0.0023	0.199	0.20456	T	0.205	0.28764	T	0.876	0.48154	P	0.221	0.37837	B	0.005115	0.33089	N	0.277370	0.876412	0.28123	N	0	0.06538	N	-2.74	0.90735	D	-1.35	0.33598	N	0.247	0.36884	-0.3563	0.73371	T	0.415	0.76238	T	10	0.018241912	0.00395	T	0.044872	0.61705	D	0.447	0.74866	.	.	0.794805502844	0.79289	0.8085143166290777	0.80806	0.372809165298	0.38767	0.427643716335	0.28887	T	0.121208	0.44400	T	-0.239941	0.15356	T	-0.162987	0.58083	T	0.036849917514546	0.03130	T	0.439856	0.13899	T	0.18523066	0.39877	0.16858834	0.38830	0.18523066	0.39876	0.16858834	0.38829	-2.197	0.04026	T	0.05981553240615715	0.01601	0.158	0.41249	B	.;.	.;.	2.401169	0.30846	18.56	0.97875648772626256	0.36567	0.86709	0.46048	D	AEFI	.	.	.	.	.	.	.	.	.	0.987719066638368	0.31327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.12	5.12	0.69459	2.022000	0.40651	7.823000	0.69822	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	10.467	0.43802	235	0.90838	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	690.33	33	chrX	108539753	.	A	G	690.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.345;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=0.125;SOR=0.606	GT:AD:DP:GQ:PL	0/1:42,34:76:99:704,0,1056	18	0	1	0