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	NSWES507-P	WT	HH	HZ	NC
chr1	5874953	5874953	C	T	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_001291594:exon17:c.G1429A:p.E477K,NPHP4:NM_001291593:exon18:c.G1426A:p.E476K,NPHP4:NM_015102:exon21:c.G2965A:p.E989K	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	0	1514	6	2	0	10	0.00329164	.	.	.	192769	NPHP4-related_disorder|Nephronophthisis_4|Senior-Loken_syndrome_4|not_provided|Nephronophthisis	MedGen:CN239384|MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655|MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.710	0.184847226584	0.0008	0.000399361	0.0004	0.0016	0.0005	0	0	0.0003	0.0011	0.0004	0.0003558	55	154602	rs116606479	0.0003	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0020	0.0017	0.0019	0.0004	0	5.038e-05	0	0.0031	0.0002	0.0005	0.0008	0.0006	0.0006	0.0007	0.0005	0.0017	0.0005	0.0005	0.0014	0.0013	0.0017	0	0.0005	0	0	9.414e-05	0	0.0002	0.0005	0.0004	0.011	0.55530	D	0.005	0.72224	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.62929	D	0.000000	0.999997	0.58761	D	2.85	0.82803	M	-2.47	0.88997	D	-3.03	0.62747	D	0.88	0.87808	0.790	0.94293	D	0.818	0.93855	D	10	0.36386117	0.52946	T	0.184847	0.85775	D	0.710	0.89650	.	.	0.950601828321	0.95007	0.9570523849875564	0.95690	0.40685214115	0.41558	0.629665255547	0.57097	T	0.412867	0.76690	T	0.0349098	0.56376	T	0.271202	0.86638	D	0.0359958903912502	0.02980	T	0.941106	0.78031	D	0.404333	0.61031	0.3165187	0.57632	0.404333	0.61032	0.3165187	0.57631	-8.799	0.66394	D	0.9683484300509582	0.99007	0.381	0.58499	A	.	.	4.384530	0.67615	25.1	0.99898701808799517	0.97124	0.97398	0.74496	D	AEFDBI	0.736353	0.68189	D	0.602642657694672	0.73340	5.950391	0.508635300115199	0.68569	5.23831	0.999999999704018	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.95	4.95	0.64894	5.872000	0.69384	7.459000	0.59036	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.086000	0.17578	0.0:1.0:0.0:0.0	17.222	0.86843	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1137.83	36	chr1	5874953	.	C	T	1137.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.685;DP=269;ExcessHet=0;FS=0.786;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-2.088;SOR=0.606	GT:AD:DP:GQ:PL	0/1:43,45:88:99:1148,0,1012	5	0	1	0
chr1	55052745	55052745	C	T	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon5:c.C753T:p.R251R	Hypercholesterolemia, familial, 3	1	1469	48	4	0	56	0.0187041	.	.	.	249987	not_specified|not_provided|Hypercholesterolemia,_autosomal_dominant,_3|Hypercholesterolemia,_familial,_1|Familial_hypercholesterolemia|Cardiovascular_phenotype|Hypobetalipoproteinemia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN230736|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0019	0.00638978	0.0041	0.0009	0.0010	0.0002	0.0015	0.0022	0.0045	0.0188	0.003771	583	154602	rs28385710	0.0032	0.0032	0.0028	0.0037	0.0180	0.0032	0.0031	0.0173	0.0170	0.0004	0.0015	0.0007	5.038e-05	0.0008	0.0075	0.0025	0.0040	0.0180	0.0028	0.0028	0.0025	0.0032	0.0226	0.0026	0.0025	0.0191	0.0178	0.0007	0	0.0050	0.0006	0	0.0008	0	0.0029	0.0052	0.0226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.006552	0.000000	0.002717	0.000000	0.000000	0.000000	0.015244	0.015152	0.08333	698.83	47	chr1	55052745	.	C	T	698.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.73;DP=294;ExcessHet=0;FS=0.999;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=1.2;SOR=0.488	GT:AD:DP:GQ:PL	0/1:37,27:64:99:709,0,848	5	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	29426.6	134	chr1	55057360	.	A	G	29426.6	.	AC=12;AF=1;AN=12;DP=936;ExcessHet=0;FS=0;MLEAC=12;MLEAF=1;MQ=60;QD=32.09;SOR=0.758	GT:AD:DP:GQ:PL	1/1:0,163:163:99:5058,489,0	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1980.97	35	chr1	89054646	.	GAAAAAC	G	1980.97	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.165;DP=180;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.75;MQRankSum=1.17;QD=32.47;ReadPosRankSum=-0.774;SOR=0.721	GT:AD:DP:GQ:PL	0/1:14,17:31:99:666,0,537	4	1	1	0
chr1	103031249	103031249	-	A	intronic	COL11A1	.	.	.	Fibrochondrogenesis 1, Autosomal recessive;Marshall syndrome, Autosomal dominant;Stickler syndrome, type II, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	194897	Stickler_Syndrome,_Dominant|Connective_tissue_disorder|not_specified|not_provided|Fibrochondrogenesis_1|Marshall_syndrome	MedGen:CN239460|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520,Orphanet:2021|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780,Orphanet:560	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0163738	0.0441	0.0193	0.0272	0.0470	0.0674	0.0456	0.0533	0.0539	0.0002305	6	26028	rs546786215	0.0430	0.0427	0.0428	0.0432	0.0469	0.0426	0.0425	0.0456	0.0451	0.0217	0.0227	0.0529	0.0390	0.0591	0.0417	0.0435	0.0420	0.0469	0.0337	0.0331	0.0331	0.0344	0.0561	0.0329	0.0326	0.0505	0.0483	0.0084	0.0034	0.0372	0.0489	0.0384	0.0578	0.1007	0.0425	0.0348	0.0561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	13537.5	88	chr1	103031249	.	G	GA	13537.5	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.565;DP=758;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.79;ReadPosRankSum=-0.231;SOR=0.623	GT:AD:DP:GQ:PL	0/1:2,26:79:99:1558,1026,1275	5	0	1	0
chr1	119727080	119727080	G	A	exonic	PHGDH	.	nonsynonymous SNV	PHGDH:NM_006623:exon5:c.G488A:p.R163Q	Neu-Laxova syndrome 1, Autosomal recessive;Phosphoglycerate dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	143179	not_provided|PHGDH_deficiency|Neu-Laxova_syndrome_1	MedGen:C3661900|MONDO:MONDO:0011152,MedGen:C1866174,OMIM:601815,Orphanet:79351|MONDO:MONDO:0009736,MedGen:C4551478,OMIM:256520,Orphanet:2671,Orphanet:583607	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.968	0.522875780875	.	.	8.248e-06	0	0	0	0	0	0	6.072e-05	6.5e-06	1	154602	rs587777483	4.82e-06	7.526e-06	4.115e-06	5.531e-06	2.522e-05	2e-06	1.29e-06	8.5e-07	5.7e-07	0	0	0	2.522e-05	0	0	3.626e-06	1.664e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.036	0.52060	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.915	0.84231	M	-1.53	0.81559	D	-3.95	0.73477	D	0.908	0.90932	0.730	0.93547	D	0.766	0.92040	D	10	0.9194493	0.91301	D	0.522876	0.95473	D	0.968	0.99597	0.703	0.83962	0.963768508205	0.96337	0.8678554530528497	0.86750	0.944994080329	0.72380	0.577394008636	0.49719	T	0.922284	0.98619	D	0.353777	0.86771	D	0.367254	0.90971	D	0.991514325141907	0.81819	D	0.938806	0.77799	D	0.9711548	0.98367	0.93692476	0.97564	0.97759515	0.98921	0.95218337	0.98530	-13.08	0.89690	D	0.8093713931170455	0.88463	0.729	0.74143	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	6.706169	0.95620	35	0.99961983653131414	0.99998	0.97188	0.73208	D	AEFDBCI	0.940178	0.94179	D	1.09868009541036	0.98110	17.45019	1.03752135420388	0.99230	21.350	1.0	0.98316	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.83	5.83	0.93059	9.853000	0.98388	11.567000	0.93263	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.682	0.91510	752	0.51611	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 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	.	.	.	.	.	.	.	.	0.08333	870.83	37	chr1	119727080	.	G	A	870.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.54;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.408;SOR=0.77	GT:AD:DP:GQ:PL	0/1:35,34:69:99:881,0,813	5	0	1	0
chr1	152312082	152312082	C	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G2804C:p.G935A	Ichthyosis vulgaris, Autosomal dominant	0	1491	31	0	0	31	0.0102887	.	.	.	1195865	FLG-related_disorder|Ichthyosis_vulgaris|not_provided	.|MONDO:MONDO:0024304,MedGen:C0079584,OMIM:146700|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.026	0.000885805589783	0.0026	0.000599042	0.0028	0.0003	0.0020	0	0	0.0042	0.0099	0.0015	0.0024967	386	154602	rs150503113	0.0019	0.0019	0.0018	0.0020	0.0222	0.0019	0.0018	0.0191	0.0179	0.0005	0.0030	0.0278	0	0.0001	0.0222	0.0013	0.0043	0.0013	0.0024	0.0024	0.0025	0.0022	0.0048	0.0022	0.0021	0.0040	0.0036	0.0003	0.0022	0.0048	0.0355	0	9.425e-05	0.0238	0.0019	0.0052	0.0008	0.018	0.50676	D	.	.	.	0.204	0.29802	B	0.069	0.27757	B	.	.	.	.	1	0.08975	N	2.735	0.79925	M	4.76	0.01576	T	-1.68	0.40082	N	0.096	0.07673	-0.9383	0.42885	T	0.002	0.00769	T	9	0.005888641	0.00132	T	8.86E-4	0.00800	T	0.026	0.05648	.	.	0.117506650769	0.11410	0.013417229045876907	0.01299	.	.	0.255646705627	0.04385	T	0.02681	0.19761	T	-0.682628	0.00046	T	-0.757315	0.03210	T	0.00847852903289858	0.00103	T	0.534247	0.17838	T	0.077396624	0.17565	0.060455702	0.11514	0.077396624	0.17564	0.060455702	0.11514	-8.24	0.62694	D	.	.	0.145	0.31857	B	.	.	-0.570785	0.01653	0.116	0.58113512807442025	0.05920	0.01243	0.04382	N	AEFBI	0.032672	0.03735	N	-1.15039363912109	0.05773	0.2640714	-1.32093414333687	0.04160	0.1956355	2.03026426021431E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.81	-1.91	0.07225	-1.041000	0.03653	.	.	0.297000	0.18867	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3637:0.2118:0.4245	3.331	0.06669	591	0.68823	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.019979	0.030303	0.029891	0.019531	0.100000	0.008621	0.003049	0.007576	0.08333	4549.83	86	chr1	152312082	.	C	G	4549.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.812;DP=1327;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.45;MQRankSum=5.12;QD=10.53;ReadPosRankSum=-1.317;SOR=0.695	GT:AD:DP:GQ:PL	0/1:239,193:432:99:4560,0,6847	5	0	1	0
chr1	154869723	154869723	-	GCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.241_242insAGCAGCAGC:p.Q80_P81insQQQ,KCNN3:NM_002249:exon1:c.241_242insAGCAGCAGC:p.Q80_P81insQQQ	.	384	237	23	45	833	946	0.192504	.	.	.	390549	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1054	0.0996	0.0511	0.0192	0.0319	0.0749	0.0517	0.1534	0.0001153	3	26028	rs3831942	0.1186	0.1275	0.1184	0.1189	0.2071	0.1181	0.1179	0.2028	0.2010	0.2071	0.0673	0.1121	0.0183	0.1391	0.1365	0.1193	0.1125	0.1368	0.1340	0.1347	0.1330	0.1351	0.2092	0.1324	0.1317	0.2053	0.2038	0.2092	0.0747	0.0816	0.1011	0.0113	0.1367	0.1809	0.1127	0.1263	0.1329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6994.2	46	chr1	154869723	.	G	GGCTGCTGCT	6994.2	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.921;DP=304;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=28;ReadPosRankSum=-0.294;SOR=0.717	GT:AD:DP:GQ:PL	1/0:0,15:31:99:1389,601,520	4	0	2	0
chr1	158668076	158668076	A	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277732	Pyropoikilocytosis,_hereditary|not_provided|Spherocytosis,_Recessive|Elliptocytosis	Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:C3661900|MedGen:CN239472|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.295927	0.2594	0.3676	0.2026	0.2423	0.2213	0.2473	0.2422	0.3088	0.0001153	3	26028	rs5778087	0.2240	0.2318	0.2228	0.2252	0.3653	0.2233	0.2230	0.3595	0.3571	0.3653	0.1704	0.2138	0.2344	0.1747	0.2460	0.2196	0.2324	0.2731	0.2818	0.2831	0.2829	0.2807	0.4731	0.2795	0.2785	0.4673	0.4649	0.4731	0.0657	0.1879	0.2095	0.2214	0.1760	0.2259	0.2103	0.2655	0.2866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3808.07	47	chr1	158668075	.	GA	G	3808.07	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.229;DP=303;ExcessHet=6.1542;FS=4.067;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=19.04;ReadPosRankSum=-0.425;SOR=0.994	GT:AD:DP:GQ:PL	0/1:24,7:33:72:72,0,504	3	0	3	0
chr1	161214269	161214269	-	TGTGTG	UTR3	NDUFS2	NM_001377298:c.*76_*77insTGTGTG;NM_001377300:c.*328_*329insTGTGTG;NM_001377301:c.*328_*329insTGTGTG;NM_004550:c.*76_*77insTGTGTG;NM_001166159:c.*328_*329insTGTGTG;NM_001377299:c.*76_*77insTGTGTG;NM_001377302:c.*119_*120insTGTGTG	.	.	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	277891	not_provided|Mitochondrial_complex_I_deficiency	MedGen:C3661900|MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs10629771	0.1103	0.1169	0.1075	0.1129	0.1917	0.1097	0.1094	0.1877	0.1860	0.0491	0.1896	0.1549	0.1917	0.0897	0.1237	0.0977	0.1182	0.1378	0.1349	0.1345	0.1345	0.1353	0.2373	0.1333	0.1326	0.2260	0.2214	0.0698	0.1581	0.2006	0.1998	0.2373	0.1092	0.1747	0.1498	0.1315	0.1588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1745.11	22	chr1	161214269	.	C	CTGTGTG	1745.11	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.692;DP=193;ExcessHet=6.1542;FS=4.229;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=18.56;ReadPosRankSum=0.423;SOR=0.2	GT:AD:DP:GQ:PL	0/1:0,5:15:99:613,224,178	3	0	3	0
chr1	168293284	168293284	-	GT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278103	not_provided|Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0901	0.0583	0.0571	0.1111	0.0285	0.0764	0.1111	0.1608	0.0101813	265	26028	rs746838916	0.1940	0.2229	0.1966	0.1915	0.3563	0.1933	0.1931	0.3505	0.3481	0.0679	0.2628	0.2257	0.3563	0.2032	0.2132	0.1918	0.2017	0.1427	0.3472	0.3539	0.3502	0.3440	0.6153	0.3444	0.3432	0.5953	0.5872	0.1764	0.4207	0.4130	0.4226	0.6153	0.3414	0.3519	0.3888	0.3596	0.3282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3299.33	42	chr1	168293284	.	A	AGT	3299.33	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.256;DP=397;ExcessHet=0.1336;FS=0;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=22.75;ReadPosRankSum=0;SOR=0.879	GT:AD:DP:GQ:PL	1/0:1,14:31:99:731,415,399	1	0	5	0
chr1	168293284	168293284	-	GTGTTT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	19	91	44	12	60	128	0.272	.	.	.	278097	Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_provided	Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0068	0.0250	0.0079	0.0024	0.0021	0.0050	0.0029	0.0053	0.0003458	9	26028	rs746838916	0.0037	0.0041	0.0037	0.0037	0.0249	0.0036	0.0036	0.0234	0.0227	0.0249	0.0046	0.0109	0.0003	0.0014	0.0202	0.0028	0.0066	0.0048	0.0153	0.0148	0.0148	0.0159	0.0407	0.0147	0.0145	0.0387	0.0379	0.0407	0.0348	0.0163	0.0143	0.0010	0.0025	0.0270	0.0060	0.0139	0.0122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3299.33	42	chr1	168293284	.	A	AGTGTTT	3299.33	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.256;DP=397;ExcessHet=0.1336;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.75;ReadPosRankSum=0;SOR=0.879	GT:AD:DP:GQ:PL	0/1:1,16:31:99:731,332,1114	5	0	1	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	0.4167	6078.5	87	chr1	169529737	.	T	C	6078.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.49;DP=423;ExcessHet=0.7136;FS=5.775;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=17.57;ReadPosRankSum=0.267;SOR=0.984	GT:AD:DP:GQ:PL	0/1:31,41:72:99:1070,0,689	2	1	3	0
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y,CFH:NM_001014975:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	207	250	453	612	0	1677	0.770326	.	.	YES	278205	Atypical_hemolytic-uremic_syndrome|Age_related_macular_degeneration_4|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1	MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.086	.	0.6243	0.733427	0.6721	0.6307	0.8458	0.9506	0.5582	0.6169	0.6589	0.7008	0.0001153	3	26028	rs1061170	0.6361	0.6361	0.6353	0.6369	0.9401	0.6350	0.6346	0.9321	0.9288	0.6297	0.8237	0.6536	0.9401	0.5593	0.6309	0.6163	0.6436	0.6942	0.6445	0.6446	0.6418	0.6473	0.9486	0.6411	0.6397	0.9264	0.9173	0.6288	0.5187	0.7377	0.6614	0.9486	0.5626	0.6541	0.6177	0.6641	0.7199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	.	.	.	-0.03	0.63077	T	0.01	0.06868	N	0.087	0.06454	-1.0069	0.27881	T	0.000	0.00011	T	7	4.2569295e-06	0.00003	T	.	.	.	0.086	0.25016	.	.	.	.	0.5769233046748007	0.57621	0.162329486446	0.18315	0.253577560186	0.04154	T	0.003274	0.02677	T	-0.761617	0.00015	T	-0.722967	0.04654	T	0.0225529419406931	0.00971	T	0.133787	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.;.;.	.;.;.	-3.389009	0.00004	0.001	0.22051245335339048	0.00869	0.00085	0.00571	N	AEFBI	0.283399	0.39651	N	-2.76930125675915	0.00003	0.0001621695	-2.87910541750741	0.00003	0.0001313686	0.998921497306925	0.37985	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.54	-9.09	0.00613	-8.331000	0.00028	-20.000000	0.00162	-4.685000	0.00022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4236:0.2638:0.0834:0.2293	2.071	0.03395	541	0.72942	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	CFHR1|CFHR3|CFHR1|CFHR3|CFHR1|CFHR1|CFHR1|CFHR1|CFHR3|CFHR1|CFHR1|CFHR3|CFHR3|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFH|CFHR3|CFHR1|CFH|CFHR1|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFHR3|CFHR3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid	CFH|CFH|CFH|CFH|CFH|CFHR1|CFH|CFH|CFHR1|CFH|CFH|CFH|CFH|CFHR1	Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Heart_Atrial_Appendage|Liver|Liver|Ovary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	rs1061170	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.631923	0.681818	0.582880	0.669591	0.500000	0.620690	0.606707	0.696970	0.5	9351.53	95	chr1	196690107	.	C	T	9351.53	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.555;DP=635;ExcessHet=2.3007;FS=1.896;MLEAC=6;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=15.8;ReadPosRankSum=0.294;SOR=0.862	GT:AD:DP:GQ:PL	0/1:66,63:129:99:1528,0,1719	1	1	4	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	.	.	.	.	.	.	.	.	0.1667	2068.06	33	chr1	196743447	.	T	C	2068.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.361;DP=467;ExcessHet=0.4139;FS=1.118;MLEAC=2;MLEAF=0.167;MQ=57.64;MQRankSum=-11.31;QD=6.34;ReadPosRankSum=-2.096;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,28:156:99:0|1:196743447_T_C:768,0,5239:196743447	4	0	2	0
chr1	218405343	218405343	-	TTGTTG	intronic	TGFB2	.	.	.	Loeys-Dietz syndrome 4, Autosomal dominant	1	191	2	1	31	35	0.0103627	.	.	.	228353	not_specified|not_provided|Loeys-Dietz_syndrome|Loeys-Dietz_syndrome_4	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030|MONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0472	.	0.0836	0.0783	0.0990	0.1545	0.0769	0.0726	0.0925	0.0859	0.0001153	3	26028	rs10482769	0.0777	0.0728	0.0769	0.0784	0.1591	0.0773	0.0771	0.1557	0.1543	0.0825	0.1058	0.0828	0.1591	0.0759	0.1057	0.0716	0.0835	0.0963	0.0762	0.0768	0.0740	0.0785	0.1503	0.0750	0.0745	0.1415	0.1380	0.0758	0.0176	0.0912	0.0780	0.1503	0.0778	0.1207	0.0673	0.0856	0.0789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1891.99	36	chr1	218405343	.	T	TTTGTTG	1891.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.706;DP=273;ExcessHet=1.383;FS=11.208;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=20.34;ReadPosRankSum=0.231;SOR=0.113	GT:AD:DP:GQ:PL	0/1:11,12:23:99:463,0,386	3	0	3	0
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q	.	440	2	22	1058	0	2138	0.998133	.	.	YES	1704217	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	.	0.9588	0.979832	0.9646	0.9919	0.9793	0.9999	0.9525	0.9481	0.9635	0.9907	0.950441	146940	154602	rs708776	0.9491	0.9488	0.9480	0.9501	0.9999	0.9477	0.9472	0.9917	0.9883	0.9918	0.9738	0.9832	0.9999	0.9563	0.9941	0.9399	0.9566	0.9912	0.9610	0.9609	0.9589	0.9632	1.0000	0.9568	0.9551	0.9808	0.9775	0.9888	0.9791	0.9590	0.9856	1.0000	0.9591	0.9830	0.9379	0.9579	0.9934	0.583	0.05936	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.483806	0.12135	N	0.766226	1	0.08975	P	-0.895	0.01383	N	1.98	0.22881	T	0.53	0.02808	N	0.025	0.01825	-1.0115	0.26447	T	0.000	0.00011	T	9	6.0402823e-07	0.00003	T	.	.	.	0.010	0.01040	.	.	.	.	0.05634089622938886	0.05575	0.181346590271	0.20389	0.286521404982	0.08417	T	0.020834	0.16329	T	-0.744246	0.00019	T	-0.797813	0.01958	T	0.0023018944148633	0.00024	T	0.138286	0.01102	T	0.040331684	0.05739	0.040422957	0.04366	0.040331684	0.05738	0.040422957	0.04365	-3.679	0.19008	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	0.350619	0.07236	3.835	0.45452285692317235	0.03568	0.01207	0.04296	N	AEFDBCI	0.022870	0.01199	N	-1.52879093395045	0.01663	0.07273724	-1.51037584413497	0.02264	0.103852	0.999997929485498	0.74766	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	5.54	-4.95	0.02821	-0.492000	0.06547	-0.150000	0.11428	-0.165000	0.11486	0.003000	0.16062	0.000000	0.08366	0.771000	0.36558	0.1705:0.3482:0.2975:0.1839	2.079	0.03410	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	PSEN2|PSEN2	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs708776	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	18981.6	104	chr1	226735804	.	G	T	18981.6	.	AC=12;AF=1;AN=12;DP=581;ExcessHet=0;FS=0;MLEAC=12;MLEAF=1;MQ=60;QD=33.48;SOR=0.84	GT:AD:DP:GQ:PL	1/1:0,92:92:99:3104,276,0	0	6	0	0
chr1	226736237	226736237	A	C	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.T1222G:p.S408A	.	424	234	529	335	0	1199	0.719256	.	.	YES	1704219	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	0.5142	0.610423	0.5305	0.5845	0.7358	0.6685	0.4347	0.4720	0.5254	0.5623	0.50903	78697	154602	rs6667260	0.4825	0.4819	0.4809	0.4841	0.7102	0.4815	0.4811	0.7027	0.6996	0.5746	0.7102	0.5629	0.6813	0.4308	0.6177	0.4599	0.5103	0.5424	0.5227	0.5226	0.5220	0.5234	0.6711	0.5197	0.5184	0.6525	0.6449	0.5810	0.4967	0.6248	0.5700	0.6711	0.4299	0.6190	0.4617	0.5449	0.5568	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.982952	0.08082	N	0.990786	1	0.08975	P	-1.445	0.00556	N	2.07	0.20523	T	0.05	0.06369	N	0.012	0.00279	-0.9439	0.41992	T	0.000	0.00011	T	9	3.5098994e-06	0.00003	T	.	.	.	0.047	0.12962	.	.	.	.	0.05903511649592833	0.05844	0.161341295611	0.18212	0.352891504765	0.18347	T	0.023569	0.17967	T	-0.842882	0.00003	T	-0.839698	0.01103	T	0.0107150276910547	0.00151	T	0.0740926	0.00542	T	0.03752211	0.04827	0.026574247	0.00754	0.03752211	0.04827	0.026574247	0.00754	-4.077	0.24950	T	.	.	0.064	0.01762	B	.;.;.	.;.;.	-0.032082	0.04066	0.946	0.19618645798258003	0.00670	0.00108	0.00689	N	AEFBCI	0.019005	0.00622	N	-1.50554167816208	0.01813	0.07947133	-1.45024527399043	0.02768	0.1279108	0.999628074989162	0.41093	0.627647	0.40530	0	0.672317	0.65289	0	0.64067	0.45733	0	0.636168	0.56350	0	.	.	4.1	1.01	0.19044	-0.836000	0.04489	-0.357000	0.09702	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.324:0.3961:0.0:0.28	3.041	0.05767	845	0.36510	.;.;.	PSEN2|COQ8A|PSEN2|PSEN2|ITPKB|COQ8A	Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Whole_Blood|Whole_Blood	COQ8A|PSEN2	Adipose_Subcutaneous|Lung	rs6667260	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.625378	0.616162	0.653533	0.640351	0.700000	0.672414	0.628049	0.496212	0.5833	6901.9	70	chr1	226736237	.	A	C	6901.9	.	AC=7;AF=0.583;AN=12;BaseQRankSum=4.25;DP=341;ExcessHet=0.7136;FS=8.988;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=22.93;ReadPosRankSum=-0.632;SOR=1.167	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1808,147,0	1	2	3	0
chr1	226737175	226737183	CTGCCGCTG	-	exonic	ITPKB	.	nonframeshift deletion	ITPKB:NM_002221:exon2:c.276_284del:p.G94_S96del	.	422	529	453	118	0	689	0.39439	.	.	.	1704216	not_specified|Myeloproliferative_neoplasm,_unclassifiable	MedGen:CN169374|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2063	0.281949	0.2860	0.2580	0.2922	0.2649	0.2750	0.2861	0.3190	0.3021	0.0001153	3	26028	rs147889095	0.2812	0.2802	0.2803	0.2821	0.3168	0.2805	0.2802	0.3045	0.2996	0.2472	0.2922	0.2918	0.2716	0.2734	0.3168	0.2803	0.2944	0.2936	0.2774	0.2784	0.2782	0.2765	0.3020	0.2752	0.2742	0.2947	0.2918	0.2558	0.3792	0.3020	0.2989	0.2778	0.2744	0.2789	0.2810	0.2973	0.2968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	5266.87	44	chr1	226737174	.	ACTGCCGCTG	A	5266.87	.	AC=7;AF=0.583;AN=12;BaseQRankSum=0.465;DP=294;ExcessHet=0.7136;FS=8.136;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=27.01;ReadPosRankSum=-0.834;SOR=0.333	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1513,103,0	1	2	3	0
chr1	236897646	236897646	T	-	UTR3	MTR	NM_001291939:c.*2delT;NM_001291940:c.*2delT;NM_000254:c.*2delT	.	.	Homocystinuria-megaloblastic anemia, cblG complementation type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	280140	not_provided|Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblG	MedGen:C3661900|MedGen:CN043592|MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4672	0.4552	0.4682	0.4587	0.4842	0.4676	0.4685	0.4694	0.0002305	6	26028	rs1465411776	0.3806	0.3887	0.3757	0.3855	0.4140	0.3796	0.3792	0.4099	0.4083	0.3737	0.4057	0.3960	0.4064	0.4060	0.3404	0.3749	0.3825	0.4140	0.1799	0.1808	0.1804	0.1794	0.1962	0.1780	0.1773	0.1924	0.1908	0.1961	0.1859	0.1366	0.1658	0.0825	0.1872	0.1187	0.1867	0.1519	0.1962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1390.15	57	chr1	236897645	.	CT	C	1390.15	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.077;DP=311;ExcessHet=3.1439;FS=1.201;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=-0.717;SOR=0.796	GT:AD:DP:GQ:PL	0/1:13,4:23:42:51,0,324	3	0	3	0
chr1	241500602	241500602	-	GAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	281822	Hereditary_cancer-predisposing_syndrome|Fumarase_deficiency|Hereditary_leiomyomatosis_and_renal_cell_cancer|not_specified|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197364	5137	26028	rs144131869	0.2390	0.2461	0.2382	0.2398	0.2745	0.2383	0.2380	0.2714	0.2702	0.1455	0.2328	0.2278	0.1589	0.2024	0.2171	0.2445	0.2281	0.2745	0.2551	0.2521	0.2543	0.2559	0.3681	0.2528	0.2519	0.3526	0.3463	0.1524	0.2864	0.3169	0.2763	0.1697	0.2757	0.2852	0.2931	0.2723	0.3681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2014.52	45	chr1	241500602	.	T	TGAGA	2014.52	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.15;DP=193;ExcessHet=0.7136;FS=0;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=33.58;ReadPosRankSum=0.489;SOR=1.015	GT:AD:DP:GQ:PL	1/0:0,6:24:99:877,626,609	2	0	3	1
chr1	241500603	241500610	GAGAGAGA	-	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1327282	not_specified|Hereditary_leiomyomatosis_and_renal_cell_cancer|FH-related_disorder|Hereditary_cancer-predisposing_syndrome	MedGen:CN169374|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381604995	0.0008	0.0007	0.0008	0.0007	0.0138	0.0007	0.0007	0.0128	0.0123	0.0138	0.0014	8.178e-05	0.0002	0.0001	0.0010	0.0003	0.0014	0.0016	0.0044	0.0041	0.0049	0.0038	0.0154	0.0041	0.0040	0.0143	0.0139	0.0154	0	0.0016	0	0.0004	0	0	0.0002	0.0050	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2014.52	45	chr1	241500602	.	TGAGAGAGA	T	2014.52	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.15;DP=193;ExcessHet=0.7136;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=33.58;ReadPosRankSum=0.489;SOR=1.015	GT:AD:DP:GQ:PL	0/1:0,16:24:99:877,251,315	4	0	1	1
chr2	21001981	21001981	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.G13441A:p.A4481T	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	1	1400	113	8	0	129	0.0440423	.	.	.	133868	Cardiovascular_phenotype|not_provided|Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_autosomal_dominant,_type_B|Hypercholesterolemia,_familial,_1|Familial_hypercholesterolemia|not_specified	MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.033	.	0.0285	0.0141773	0.0241	0.0057	0.0158	0.0002	0.0203	0.0330	0.0309	0.0187	0.0248703	3845	154602	rs1801695	0.0317	0.0317	0.0317	0.0317	0.0614	0.0315	0.0314	0.0561	0.0540	0.0062	0.0195	0.0352	0.0001	0.0215	0.0614	0.0354	0.0287	0.0206	0.0260	0.0260	0.0261	0.0259	0.0406	0.0253	0.0250	0.0380	0.0369	0.0062	0.0802	0.0406	0.0366	0	0.0238	0.0578	0.0359	0.0322	0.0205	0.148	0.24857	T	0.127	0.35082	T	.	.	.	.	.	.	0.681940	0.10251	N	0.840251	1	0.08975	N	.	.	.	1.19	0.37578	T	-1.3	0.32590	N	0.02	0.00308	-1.0802	0.07310	T	0.013	0.05033	T	10	0.0020777583	0.00030	T	.	.	.	0.033	0.08068	.	.	.	.	0.09369258253249489	0.09301	0.0364196431978	0.03852	0.293061554432	0.09370	T	.	.	.	-0.628348	0.00098	T	-0.649592	0.08983	T	0.00430711358315662	0.00046	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13503	B	.	.	0.198878	0.05841	2.280	0.98444457265597174	0.41553	0.41293	0.26625	N	AEFBCI	0.409012	0.48046	N	-0.834480860197701	0.12435	0.6061245	-0.81574845949859	0.14113	0.7358027	0.88503607229943	0.25708	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.9	-0.996	0.09696	0.190000	0.16864	-1.438000	0.05439	0.549000	0.26987	0.969000	0.34210	0.000000	0.08366	0.092000	0.17891	0.4201:0.2784:0.0:0.3014	5.082	0.13995	861	0.33516	.	APOB	Adipose_Subcutaneous	.	.	.	Likely benign	0	0	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	0.044814	0.020202	0.058424	0.049708	0.000000	0.060345	0.054878	0.015152	0.1667	2165.06	34	chr2	21001981	.	C	T	2165.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.393;DP=328;ExcessHet=0.4139;FS=2.557;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.942;SOR=0.618	GT:AD:DP:GQ:PL	0/1:29,34:63:99:918,0,826	4	0	2	0
chr2	26465829	26465829	C	T	exonic	OTOF	.	nonsynonymous SNV	OTOF:NM_194322:exon20:c.G2572A:p.E858K,OTOF:NM_004802:exon21:c.G2341A:p.E781K,OTOF:NM_194323:exon21:c.G2341A:p.E781K,OTOF:NM_001287489:exon38:c.G4642A:p.E1548K,OTOF:NM_194248:exon38:c.G4642A:p.E1548K	Auditory neuropathy, autosomal recessive, 1, Autosomal recessive;Deafness, autosomal recessive 9, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	YES	496274	not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_9	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010986,MedGen:C1832828,OMIM:601071,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.481	0.0566737322848	0.0004	0.000599042	0.0004	0	0	0.0001	0	0.0002	0	0.0020	0.0003493	54	154602	rs146982209	0.0003	0.0003	0.0002	0.0003	0.0022	0.0002	0.0002	0.0020	0.0019	0	0.0001	0	2.519e-05	0	0.0009	0.0001	0.0003	0.0022	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	0	0	0.0001	0	0	0	0	0.0002	0	0.0023	0.027	0.50132	D	0.13	0.51421	T	0.039	0.41609	B	0.059	0.45959	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0.56	0.15190	N	-0.57	0.71307	T	-2.98	0.62008	D	0.877	0.87481	-0.6612	0.62223	T	0.273	0.64432	T	10	0.030760765	0.01205	T	0.056674	0.66690	D	0.481	0.77142	.	.	0.872198448125	0.87094	0.6559919712665714	0.65535	0.392072762019	0.40400	0.798641860485	0.81756	T	0.456549	0.79527	T	-0.0282259	0.47674	T	0.180203	0.82007	D	0.169349556982405	0.18536	T	0.986501	0.95398	D	0.56345254	0.70700	0.3863191	0.63527	0.56345254	0.70701	0.3863191	0.63527	-11.779	0.85474	D	0.7689188339790662	0.85007	0.376	0.61536	A	.;.;.;.;.;.	.;.;.;.;.;.	4.300261	0.65647	24.9	0.99750069166673672	0.84152	0.96994	0.72079	D	AEFDBI	0.781001	0.71272	D	-0.00839514124951066	0.41476	2.48143	0.121764245646468	0.45664	2.825592	0.999999989341186	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.18	4.3	0.50540	5.052000	0.64081	3.331000	0.37627	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.985000	0.61073	0.0:0.8595:0.1405:0.0	15.364	0.74218	417	0.81662	.;.;C2 domain|C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	1908.83	36	chr2	26465829	.	C	T	1908.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.32;DP=322;ExcessHet=0;FS=0.616;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.643;SOR=0.623	GT:AD:DP:GQ:PL	0/1:75,68:143:99:1919,0,1849	5	0	1	0
chr2	29071662	29071662	G	A	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.C2600T:p.P867L	.	0	1485	36	1	0	38	0.012633	.	.	.	177344	PCARE-related_disorder|not_provided|not_specified|Retinitis_pigmentosa_54|Retinitis_pigmentosa	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013263,MedGen:C3150691,OMIM:613428,Orphanet:791|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	0.0036451874102	0.0018	0.000998403	0.0015	0.0004	0.0017	0	0.0017	0.0021	0.0034	0.0005	0.0015071	233	154602	rs182248363	0.0022	0.0022	0.0021	0.0022	0.0215	0.0021	0.0021	0.0184	0.0173	0.0007	0.0031	0.0030	0	0.0021	0.0215	0.0022	0.0034	0.0009	0.0019	0.0019	0.0019	0.0019	0.0054	0.0017	0.0017	0.0044	0.0041	0.0005	0	0.0054	0.0032	0	0.0013	0.0272	0.0021	0.0033	0.0008	1.0	0.00964	T	0.425	0.13912	T	0.004	0.12183	B	0.001	0.04355	B	0.392844	0.13231	N	0.685825	1	0.08975	N	.	.	.	2.61	0.13095	T	3.05	0.00134	N	0.097	0.07811	-0.9297	0.44183	T	0.010	0.03492	T	10	0.003376186	0.00059	T	0.003645	0.08371	T	0.029	0.06676	.	.	0.0716867268079	0.06686	0.04218015526180348	0.04163	0.0132068873467	0.01271	.	.	.	0.005117	0.04559	T	-0.733535	0.00023	T	-0.83044	0.01254	T	0.00110661854475679	0.00011	T	0.493751	0.15260	T	0.015144684	0.00124	0.027302949	0.00874	0.015144684	0.00124	0.027302949	0.00874	-3.959	0.23188	T	.	.	0.064	0.01645	B	.	.	-0.137698	0.03423	0.624	0.33965375538205167	0.02052	0.01676	0.05356	N	AEFDBI	0.034659	0.04332	N	-1.40349762555176	0.02608	0.1153987	-1.34441941115392	0.03872	0.1815065	0.0925815948388823	0.16162	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.54	-0.756	0.10500	1.406000	0.34254	-1.083000	0.06383	-0.169000	0.11342	0.027000	0.20232	0.000000	0.08366	0.002000	0.04165	0.3388:0.0:0.1847:0.4764	4.835	0.12825	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022659	0.020202	0.019022	0.043860	0.050000	0.043103	0.003049	0.007576	0.08333	3386.83	33	chr2	29071662	.	G	A	3386.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.88;DP=431;ExcessHet=0;FS=1.747;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=0.339;SOR=0.861	GT:AD:DP:GQ:PL	0/1:105,120:225:99:3397,0,2576	5	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	0.5	8858.53	121	chr2	44320435	.	G	A	8858.53	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.156;DP=609;ExcessHet=2.3007;FS=3.223;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=0.368;SOR=0.511	GT:AD:DP:GQ:PL	1/1:0,103:103:99:3415,309,0	1	1	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1619.79	22	chr2	47806751	.	CTT	C	1619.79	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.145;DP=257;ExcessHet=3.1439;FS=4.429;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=1.2;SOR=1.022	GT:AD:DP:GQ:PL	0/1:13,14:39:26:385,0,361	3	0	3	0
chr2	71682612	71682612	A	G	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon53:c.A6097G:p.I2033V,DYSF:NM_001130986:exon53:c.A6100G:p.I2034V,DYSF:NM_001130455:exon54:c.A6142G:p.I2048V,DYSF:NM_001130977:exon54:c.A6160G:p.I2054V,DYSF:NM_001130980:exon54:c.A6190G:p.I2064V,DYSF:NM_001130984:exon54:c.A6163G:p.I2055V,DYSF:NM_001130985:exon54:c.A6193G:p.I2065V,DYSF:NM_003494:exon54:c.A6139G:p.I2047V,DYSF:NM_001130978:exon55:c.A6202G:p.I2068V,DYSF:NM_001130979:exon55:c.A6232G:p.I2078V,DYSF:NM_001130981:exon55:c.A6253G:p.I2085V,DYSF:NM_001130982:exon55:c.A6235G:p.I2079V,DYSF:NM_001130983:exon55:c.A6205G:p.I2069V,DYSF:NM_001130987:exon55:c.A6256G:p.I2086V	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	0	1513	8	1	0	10	0.00329381	.	.	.	100253	Miyoshi_myopathy|Miyoshi_muscular_dystrophy_1|Qualitative_or_quantitative_defects_of_dysferlin|Limb-girdle_muscular_dystrophy,_recessive|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B	MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN239352|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.287	0.0376093905226	0.0002	0.000998403	0.0004	0.0002	0.0008	0	0	0.0002	0	0.0013	0.0003687	57	154602	rs150834671	0.0004	0.0004	0.0004	0.0004	0.0019	0.0004	0.0004	0.0011	0.0010	5.974e-05	0.0005	0	0	0	0.0019	0.0004	0.0003	0.0013	0.0002	0.0002	0.0003	0.0001	0.0010	0.0002	0.0001	0.0004	0.0003	9.641e-05	0	0.0005	0	0	0	0	0.0003	0	0.0010	0.009	0.58626	D	0.09	0.42436	T	0.861	0.47410	P	0.672	0.54822	P	0.000130	0.49741	D	0.200820	0.945508	0.38651	D	2.37	0.68279	M	-1.97	0.85173	D	-0.73	0.20576	N	0.313	0.36043	-0.0037	0.82179	T	0.552	0.83611	D	10	0.0332371	0.01495	T	0.037609	0.57720	D	0.287	0.60574	.	.	0.682595736848	0.67989	0.5128477279156468	0.51206	0.125644526005	0.14166	0.451496750116	0.32149	T	0.618363	0.88002	D	-0.271249	0.11618	T	-0.207958	0.53891	T	0.0358344118829158	0.02951	T	0.881912	0.60169	D	0.11803938	0.27819	0.16269685	0.37779	0.11803938	0.27818	0.16269685	0.37778	-6.71	0.51886	T	0.2355381310636637	0.31893	0.085	0.09965	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.201725	0.43545	21.8	0.99855697884841543	0.93458	0.94693	0.62006	D	AEFDBI	0.641005	0.61849	D	0.188791092334703	0.50661	3.254016	0.243024779817554	0.52254	3.401438	0.999102726669899	0.38452	0.706548	0.73137	0	0.59043	0.45803	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.1	3.86	0.43689	1.672000	0.37139	.	.	0.756000	0.94297	0.982000	0.35529	1.000000	0.68203	0.998000	0.85391	0.8383:0.0:0.0:0.1617	9.250	0.36707	643	0.63827	.;.;.;.;Ferlin, C-terminal domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	2436.83	35	chr2	71682612	.	A	G	2436.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.078;DP=383;ExcessHet=0;FS=0.528;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.5;SOR=0.73	GT:AD:DP:GQ:PL	0/1:89,105:194:99:2447,0,2106	5	0	1	0
chr2	113062899	113062899	T	C	UTR3	IL36RN	NM_173170:c.*222T>C;NM_012275:c.*222T>C	.	.	Psoriasis 14, pustular, Autosomal recessive	910	207	66	339	0	744	0.642487	.	.	.	283604	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	0.108433	16764	154602	rs2515401	0.6460	0.6350	0.6359	0.6549	0.7967	0.6440	0.6431	0.7899	0.7872	0.7121	0.6981	0.6741	0.7292	0.6065	0.7411	0.6034	0.6506	0.7967	0.6525	0.6525	0.6494	0.6557	0.8018	0.6490	0.6476	0.7807	0.7721	0.7072	0.7566	0.6635	0.6876	0.7070	0.6292	0.7381	0.6008	0.6886	0.8018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.875	581.47	7	chr2	113062899	.	T	C	581.47	.	AC=7;AF=0.875;AN=8;BaseQRankSum=1.07;DP=26;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.875;MQ=60;MQRankSum=0;QD=30.6;ReadPosRankSum=-0.712;SOR=0.627	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	0	3	1	2
chr2	113062953	113062953	A	G	UTR3	IL36RN	NM_173170:c.*276A>G;NM_012275:c.*276A>G	.	.	Psoriasis 14, pustular, Autosomal recessive	1089	122	46	265	0	576	0.702439	.	.	.	283793	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.64154	16698	26028	rs1800930	0.6402	0.5794	0.6263	0.6522	0.7949	0.6378	0.6368	0.7880	0.7851	0.7003	0.6800	0.6607	0.7105	0.5871	0.7339	0.5921	0.6385	0.7949	0.6528	0.6527	0.6496	0.6560	0.8014	0.6494	0.6480	0.7803	0.7717	0.7079	0.7577	0.6634	0.6885	0.7078	0.6301	0.7381	0.6008	0.6883	0.8014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.7	437.38	3	chr2	113062953	.	A	G	437.38	.	AC=7;AF=0.7;AN=10;BaseQRankSum=0;DP=16;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.7;MQ=60;MQRankSum=0;QD=33.64;ReadPosRankSum=0.967;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,4:4:12:131,12,0	1	3	1	1
chr2	113063003	113063003	C	A	UTR3	IL36RN	NM_173170:c.*326C>A;NM_012275:c.*326C>A	.	.	Psoriasis 14, pustular, Autosomal recessive	1153	102	28	239	0	506	0.712676	.	.	.	283612	Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided|Generalized_pustular_psoriasis	MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.641694	16702	26028	rs2515402	0.6503	0.5392	0.6312	0.6662	0.7952	0.6475	0.6464	0.7882	0.7853	0.7079	0.6852	0.6657	0.7045	0.6007	0.7372	0.5959	0.6436	0.7952	0.6523	0.6524	0.6493	0.6555	0.8017	0.6489	0.6475	0.7806	0.7720	0.7070	0.7582	0.6634	0.6888	0.7075	0.6290	0.7381	0.6006	0.6879	0.8017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.8	339.4	2	chr2	113063003	.	C	A	339.4	.	AC=8;AF=0.8;AN=10;DP=13;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.7;MQ=60;QD=30.85;SOR=1.27	GT:AD:DP:GQ:PL	1/1:0,4:4:12:99,12,0	1	4	0	1
chr2	113063078	113063078	A	T	UTR3	IL36RN	NM_173170:c.*401A>T;NM_012275:c.*401A>T	.	.	Psoriasis 14, pustular, Autosomal recessive	1209	73	21	219	0	459	0.758678	.	.	.	282259	not_provided|Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau	MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715056	.	.	.	.	.	.	.	.	0.108032	16702	154602	rs3180234	0.6596	0.4268	0.6382	0.6777	0.8001	0.6565	0.6553	0.7925	0.7894	0.6759	0.6937	0.6753	0.7131	0.6192	0.7623	0.6046	0.6542	0.8001	0.6407	0.6407	0.6374	0.6442	0.8010	0.6373	0.6359	0.7799	0.7713	0.6662	0.7582	0.6591	0.6886	0.7087	0.6294	0.7347	0.6006	0.6796	0.8010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	251.17	3	chr2	113063078	.	A	T	251.17	.	AC=6;AF=1;AN=6;DP=10;ExcessHet=0;FS=0;MLEAC=7;MLEAF=1;MQ=60;QD=31.4;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,3:3:9:90,9,0	0	3	0	3
chr2	113063095	113063095	A	G	UTR3	IL36RN	NM_173170:c.*418A>G;NM_012275:c.*418A>G	.	.	Psoriasis 14, pustular, Autosomal recessive	1204	76	20	222	0	464	0.753247	.	.	.	283794	Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided|Generalized_pustular_psoriasis	MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715056	.	.	.	.	.	.	.	.	0.108239	16734	154602	rs3180235	0.6666	0.4191	0.6459	0.6842	0.8049	0.6634	0.6621	0.7971	0.7939	0.7199	0.7068	0.6777	0.7170	0.6252	0.7704	0.6115	0.6626	0.8049	0.6525	0.6524	0.6495	0.6557	0.8016	0.6491	0.6477	0.7805	0.7719	0.7072	0.7599	0.6639	0.6885	0.7079	0.6290	0.7381	0.6007	0.6878	0.8016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	257.17	3	chr2	113063095	.	A	G	257.17	.	AC=6;AF=1;AN=6;DP=9;ExcessHet=0;FS=0;MLEAC=7;MLEAF=1;MQ=60;QD=32.15;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,3:3:9:90,9,0	0	3	0	3
chr2	127289728	127289728	G	A	exonic	ERCC3	.	synonymous SNV	ERCC3:NM_000122:exon5:c.C618T:p.A206A,ERCC3:NM_001303416:exon5:c.C426T:p.A142A,ERCC3:NM_001303418:exon5:c.C426T:p.A142A	Trichothiodystrophy 2, photosensitive, Autosomal recessive;Xeroderma pigmentosum, group B, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	281798	not_provided|Xeroderma_pigmentosum_group_B	MedGen:C3661900|MONDO:MONDO:0012531,MedGen:C0268136,OMIM:610651	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.107	.	0.0008	0.000199681	0.0009	9.612e-05	0.0008	0	0	0.0014	0.0022	0.0002	0.0007374	114	154602	rs145830873	0.0007	0.0007	0.0007	0.0008	0.0092	0.0007	0.0007	0.0072	0.0065	0.0004	0.0014	0.0106	0	0	0.0092	0.0005	0.0018	9.275e-05	0.0008	0.0008	0.0008	0.0008	0.0026	0.0006	0.0006	0.0020	0.0017	0.0001	0	0.0026	0.0098	0	0	0.0136	0.0004	0.0014	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	0.004028	0.000000	0.010870	0.005848	0.000000	0.008621	0.000000	0.000000	0.08333	407.83	38	chr2	127289728	.	G	A	407.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.949;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=-1.169;SOR=0.584	GT:AD:DP:GQ:PL	0/1:36,19:55:99:418,0,1004	5	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1501.28	29	chr2	151546001	.	T	TAA	1501.28	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.024;DP=279;ExcessHet=1.383;FS=1.279;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=0.046;SOR=0.565	GT:AD:DP:GQ:PL	1/0:3,9:20:85:320,85,263	2	0	4	0
chr2	170845561	170845561	G	A	exonic	GAD1	.	synonymous SNV	GAD1:NM_000817:exon8:c.G807A:p.P269P	.	0	1506	15	1	0	17	0.00561241	.	.	YES	285644	Neurodevelopmental_disorder_with_progressive_spasticity_and_brain_white_matter_abnormalities|not_provided	MONDO:MONDO:0033613,MedGen:C5436628,OMIM:619026,Orphanet:210141,Orphanet:641353|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0005	0.00139776	0.0006	0.0004	0.0003	0	0.0006	0.0007	0.0011	0.0012	0.0006145	95	154602	rs34100397	0.0004	0.0004	0.0004	0.0005	0.0051	0.0004	0.0004	0.0036	0.0031	0.0013	0.0008	0	2.519e-05	0.0004	0.0051	0.0003	0.0012	0.0013	0.0010	0.0010	0.0009	0.0011	0.0036	0.0009	0.0008	0.0028	0.0026	0.0010	0	0.0036	0	0.0002	0.0004	0	0.0004	0.0043	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.004028	0.010101	0.002717	0.002924	0.000000	0.008621	0.003049	0.000000	0.08333	825.83	34	chr2	170845561	.	G	A	825.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.19;DP=236;ExcessHet=0;FS=11.307;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.2;SOR=2.001	GT:AD:DP:GQ:PL	0/1:39,30:69:99:836,0,979	5	0	1	0
chr2	170846067	170846067	T	G	intronic	GAD1	.	.	.	.	1	1506	14	1	0	16	0.00528402	0	0	.	650879	not_provided|Inborn_genetic_diseases|GAD1-related_disorder|Neurodevelopmental_disorder_with_progressive_spasticity_and_brain_white_matter_abnormalities	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0033613,MedGen:C5436628,OMIM:619026,Orphanet:210141,Orphanet:641353	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0005	0.00139776	0.0006	0.0004	0.0003	0	0.0006	0.0007	0.0011	0.0008	0.0005692	88	154602	rs139531653	0.0004	0.0004	0.0004	0.0004	0.0050	0.0004	0.0004	0.0036	0.0031	0.0013	0.0008	0	0	0.0004	0.0050	0.0003	0.0011	0.0010	0.0010	0.0010	0.0009	0.0011	0.0036	0.0009	0.0008	0.0028	0.0026	0.0010	0	0.0036	0	0.0002	0.0004	0	0.0004	0.0043	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	564.83	37	chr2	170846067	.	T	G	564.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.101;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.61;ReadPosRankSum=-1.172;SOR=0.743	GT:AD:DP:GQ:PL	0/1:12,22:34:99:575,0,288	5	0	1	0
chr2	170849339	170849339	C	T	exonic	GAD1	.	synonymous SNV	GAD1:NM_000817:exon12:c.C1173T:p.N391N	.	0	1506	15	1	0	17	0.00561241	.	.	.	283600	not_provided|Neurodevelopmental_disorder_with_progressive_spasticity_and_brain_white_matter_abnormalities	MedGen:C3661900|MONDO:MONDO:0033613,MedGen:C5436628,OMIM:619026,Orphanet:210141,Orphanet:641353	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0005	0.00139776	0.0006	0.0004	0.0003	0.0001	0.0006	0.0007	0.0011	0.0008	0.0005951	92	154602	rs34856125	0.0004	0.0004	0.0004	0.0005	0.0052	0.0004	0.0004	0.0037	0.0032	0.0013	0.0008	0	0.0001	0.0004	0.0052	0.0003	0.0012	0.0010	0.0010	0.0010	0.0009	0.0011	0.0036	0.0009	0.0008	0.0028	0.0026	0.0010	0	0.0036	0	0.0002	0.0004	0	0.0004	0.0038	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.010101	0.002717	0.002924	0.000000	0.008621	0.003049	0.000000	0.08333	918.83	34	chr2	170849339	.	C	T	918.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.08;DP=254;ExcessHet=0;FS=0.836;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=1.08;SOR=0.534	GT:AD:DP:GQ:PL	0/1:43,39:82:99:929,0,969	5	0	1	0
chr2	170852780	170852780	C	T	exonic	GAD1	.	synonymous SNV	GAD1:NM_000817:exon13:c.C1251T:p.L417L	.	0	1506	15	1	0	17	0.00561241	.	.	.	285134	Neurodevelopmental_disorder_with_progressive_spasticity_and_brain_white_matter_abnormalities|not_provided	MONDO:MONDO:0033613,MedGen:C5436628,OMIM:619026,Orphanet:210141,Orphanet:641353|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0006	0.0004	0.0003	0.0001	0.0006	0.0007	0.0011	0.0008	0.0005821	90	154602	rs35426017	0.0004	0.0004	0.0004	0.0004	0.0049	0.0004	0.0004	0.0034	0.0030	0.0013	0.0008	0	5.038e-05	0.0004	0.0049	0.0003	0.0012	0.0010	0.0010	0.0010	0.0009	0.0011	0.0036	0.0009	0.0008	0.0028	0.0026	0.0010	0	0.0036	0	0.0002	0.0004	0	0.0004	0.0043	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.004532	0.010101	0.002717	0.002924	0.000000	0.008621	0.006098	0.000000	0.08333	1393.83	34	chr2	170852780	.	C	T	1393.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.34;DP=253;ExcessHet=0;FS=3.079;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=-0.444;SOR=0.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,37:80:99:0|1:170852780_C_T:1404,0,1679:170852780	5	0	1	0
chr2	170852781	170852781	G	T	exonic	GAD1	.	nonsynonymous SNV	GAD1:NM_000817:exon13:c.G1252T:p.V418F	.	0	1505	15	1	1	18	0.00561612	.	.	.	285646	not_provided|Neurodevelopmental_disorder_with_progressive_spasticity_and_brain_white_matter_abnormalities|Inborn_genetic_diseases|GAD1-related_disorder|Hereditary_spastic_paraplegia	MedGen:C3661900|MONDO:MONDO:0033613,MedGen:C5436628,OMIM:619026,Orphanet:210141,Orphanet:641353|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.261	0.0396181188737	.	0.00139776	0.0006	0.0005	0.0003	0	0.0006	0.0007	0.0011	0.0008	0.0005821	90	154602	rs143058194	0.0004	0.0004	0.0004	0.0004	0.0049	0.0004	0.0004	0.0034	0.0030	0.0013	0.0008	0	2.519e-05	0.0004	0.0049	0.0003	0.0012	0.0010	0.0010	0.0010	0.0009	0.0011	0.0036	0.0009	0.0008	0.0028	0.0026	0.0011	0	0.0036	0	0.0002	0.0004	0	0.0005	0.0043	0.0019	0.392	0.10766	T	0.338	0.18125	T	0.983	0.60381	D	0.946	0.68276	D	0.000884	0.41231	D	0.243493	0.999935	0.51612	D	1.755	0.45626	L	0.9	0.45248	T	-0.15	0.09297	N	0.834	0.82964	-0.9186	0.45743	T	0.143	0.46422	T	10	0.19945809	0.35955	T	0.039618	0.58911	D	0.261	0.57352	.	.	0.857758316545	0.85638	0.9406694121886269	0.94047	1.62337499068	0.89093	0.46767115593	0.34360	T	0.286017	0.65880	T	-0.262774	0.12578	T	-0.209425	0.53750	T	0.0248542474123744	0.01253	T	0.958604	0.84374	D	0.34145865	0.56396	0.080097124	0.18091	0.33693433	0.56034	0.07277248	0.15737	-9.078	0.68197	D	0.1892777638911215	0.24753	0.209	0.43680	B	.	.	3.382320	0.46789	22.4	0.9825612410250999	0.39621	0.91298	0.53252	D	AEFDBI	0.268318	0.38484	N	0.144387257252125	0.48546	3.066	0.130135011612821	0.46098	2.861411	0.280740583474554	0.18986	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.91	3.15	0.35301	1.754000	0.37998	3.525000	0.38921	-1.503000	0.01026	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.1949:0.115:0.5715:0.1185	3.329	0.06664	448	0.79501	Pyridoxal-phosphate binding site	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1393.83	34	chr2	170852781	.	G	T	1393.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.99;DP=253;ExcessHet=0;FS=3.079;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=-0.572;SOR=0.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,37:80:99:0|1:170852780_C_T:1404,0,1679:170852780	5	0	1	0
chr2	170858898	170858898	G	A	intronic	GAD1	.	.	.	.	1	1506	14	1	0	16	0.00528402	0.1152	0.426	.	650881	not_provided|Neurodevelopmental_disorder_with_progressive_spasticity_and_brain_white_matter_abnormalities|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0033613,MedGen:C5436628,OMIM:619026,Orphanet:210141,Orphanet:641353|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.00119808	0.0006	9.718e-05	0.0003	0	0.0006	0.0007	0.0011	0.0008	0.0005304	82	154602	rs147201199	0.0004	0.0004	0.0004	0.0004	0.0052	0.0004	0.0004	0.0037	0.0032	0.0005	0.0008	0	2.519e-05	0.0004	0.0052	0.0003	0.0011	0.0010	0.0008	0.0008	0.0007	0.0008	0.0034	0.0006	0.0006	0.0027	0.0024	0.0003	0	0.0034	0	0.0002	0.0004	0	0.0004	0.0038	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	756.83	33	chr2	170858898	.	G	A	756.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.46;DP=240;ExcessHet=0;FS=0.944;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.795;SOR=0.852	GT:AD:DP:GQ:PL	0/1:37,30:67:99:767,0,897	5	0	1	0
chr2	174750181	174750181	A	-	intronic	CHRNA1	.	.	.	Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 1A, slow-channel, Autosomal dominant;Myasthenic syndrome, congenital, 1B, fast-channel, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	285836	Congenital_Myasthenic_Syndrome,_Dominant/Recessive|not_provided|Autosomal_recessive_multiple_pterygium_syndrome	MedGen:CN239246|MedGen:C3661900|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1009	0.2306	0.0531	0.0740	0.0576	0.0815	0.1098	0.1662	0.0003842	10	26028	rs67309103	0.1040	0.1178	0.1022	0.1057	0.2650	0.1035	0.1033	0.2601	0.2580	0.2650	0.0637	0.0864	0.1054	0.0524	0.1415	0.0962	0.1146	0.1809	0.1411	0.1427	0.1412	0.1409	0.3022	0.1394	0.1388	0.2976	0.2958	0.3022	0.0573	0.0874	0.0715	0.0814	0.0376	0.1514	0.0761	0.1283	0.2175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7757.87	35	chr2	174750180	.	CA	C	7757.87	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.346;DP=394;ExcessHet=0;FS=7.689;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=29.5;ReadPosRankSum=0.473;SOR=2.142	GT:AD:DP:GQ:PL	0/1:0,11:39:99:1045,615,510	4	0	2	0
chr2	178535859	178535859	A	-	ncRNA_intronic	TTN-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	286102	not_provided|Hypertrophic_cardiomyopathy_2|Cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Limb-girdle_muscular_dystrophy,_recessive|Hypertrophic_cardiomyopathy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN239310|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN239352|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3039	0.2943	0.2856	0.2745	0.3470	0.3015	0.3364	0.3033	0.0023052	60	26028	rs749872538	0.1647	0.2031	0.1641	0.1654	0.1897	0.1640	0.1637	0.1842	0.1819	0.1658	0.1897	0.1758	0.1845	0.1899	0.1839	0.1614	0.1713	0.1743	0.0040	0.0053	0.0035	0.0046	0.0064	0.0037	0.0036	0.0052	0.0047	0.0050	0	0.0064	0.0117	0.0021	0.0111	0.0051	0.0020	0.0056	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	577.49	69	chr2	178535858	.	GA	G	577.49	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.057;DP=615;ExcessHet=6.1542;FS=1.248;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=-0.018;SOR=0.575	GT:AD:DP:GQ:PL	0/1:50,10:72:99:109,0,1117	1	0	5	0
chr2	178698917	178698917	A	-	intronic	TTN	.	.	.	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	602	811	65	11	33	120	0.050907	.	.	.	284061	Hypertrophic_cardiomyopathy_2|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_Cardiomyopathy,_Dominant|Limb-girdle_muscular_dystrophy,_recessive|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Hypertrophic_cardiomyopathy|not_specified	MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN239310|MedGen:CN239352|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3475	0.2323	0.3611	0.3926	0.3437	0.3114	0.3652	0.4068	0.0002587	40	154602	rs368277751	0.2822	0.2893	0.2800	0.2846	0.3367	0.2814	0.2810	0.3308	0.3284	0.3185	0.3091	0.3275	0.3367	0.3028	0.2767	0.2747	0.2980	0.3072	0.0042	0.0065	0.0033	0.0052	0.0055	0.0038	0.0037	0.0042	0.0038	0.0019	0	0.0055	0.0081	0.0039	0.0128	0	0.0043	0.0037	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	139.19	4	chr2	178698916	.	TA	T	139.19	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.524;DP=93;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=-0.524;SOR=0.473	GT:AD:DP:GQ:PL	0/1:3,2:5:37:37,0,56	3	0	3	0
chr2	178731827	178731827	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon55:c.A13316G:p.Y4439C,TTN:NM_001256850:exon56:c.A16097G:p.Y5366C,TTN:NM_001267550:exon58:c.A17048G:p.Y5683C	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1509	12	0	0	12	0.0039604	.	.	.	55786	Brugada_syndrome|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|TTN-related_disorder|Cardiomyopathy|not_specified|Tibial_muscular_dystrophy|not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|.|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.421	0.0762178323699	0.0056	0.00199681	0.0058	0.0019	0.0019	0.0002	0.0023	0.0086	0.0044	0.0044	0.0058667	907	154602	rs72648942	0.0069	0.0069	0.0069	0.0070	0.0077	0.0068	0.0068	0.0076	0.0075	0.0013	0.0021	0.0096	5.039e-05	0.0040	0.0028	0.0077	0.0059	0.0064	0.0047	0.0047	0.0048	0.0046	0.0075	0.0044	0.0043	0.0069	0.0067	0.0013	0	0.0033	0.0081	0.0002	0.0050	0.0034	0.0075	0.0009	0.0035	0.106	0.29688	T	.	.	.	0.035	0.20614	B	0.037	0.23121	B	.	.	.	.	1	0.81001	D	.	.	.	-0.39	0.69158	T	-4.81	0.80767	D	0.364	0.42834	-0.7021	0.60338	T	0.233	0.59904	T	9	0.007775426	0.00177	T	0.076218	0.72479	D	0.421	0.73005	.	.	0.197625483188	0.19356	.	.	0.114869149133	0.12958	0.536030173302	0.43886	T	.	.	.	-0.326411	0.06387	T	-0.228669	0.51901	T	0.0519606309067609	0.05841	T	0.686231	0.40326	T	.	.	.	.	.	.	.	.	-6.539	0.50648	T	.	.	0.217	0.44682	B	.;.;.;.	.;.;.;.	2.318627	0.29686	18.20	0.35224080168223454	0.02199	0.97659	0.76220	D	AEBI	0.805865	0.73033	D	-0.679438391223224	0.16609	0.8477064	-0.580075148853372	0.20013	1.076351	0.995725753796857	0.34289	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	3.8	0.42887	5.161000	0.64780	.	.	-0.695000	0.04090	1.000000	0.71638	0.999000	0.35428	0.788000	0.37229	0.1046:0.0592:0.0:0.8362	10.476	0.43850	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.017241	0.000000	0.003788	0.08333	1254.83	34	chr2	178731827	.	T	C	1254.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.38;DP=311;ExcessHet=0;FS=6.583;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.067;SOR=0.969	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1265,0,1274	5	0	1	0
chr2	222201817	222201817	-	A	UTR3	PAX3	NM_181457:c.*106_*107insT	.	.	Craniofacial-deafness-hand syndrome, Autosomal dominant;Rhabdomyosarcoma 2, alveolar, Autosomal recessive;Waardenburg syndrome, type 1, Autosomal dominant;Waardenburg syndrome, type 3, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	287842	Waardenburg_syndrome|Craniofacial-deafness-hand_syndrome|not_provided	MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500,Orphanet:3440|MONDO:MONDO:0007395,MedGen:C1852510,OMIM:122880,Orphanet:1529|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs552778546	0.2754	0.2853	0.2770	0.2737	0.2818	0.2746	0.2743	0.2809	0.2806	0.2280	0.1885	0.2779	0.2631	0.2428	0.2626	0.2818	0.2750	0.2734	0.2393	0.2287	0.2376	0.2413	0.3120	0.2371	0.2362	0.2977	0.2919	0.2002	0.1987	0.2236	0.2809	0.3104	0.2498	0.3211	0.2518	0.2275	0.3120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	136.17	26	chr2	222201817	.	C	CA	136.17	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.735;DP=131;ExcessHet=3.1439;FS=5.302;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=0.086;SOR=0.193	GT:AD:DP:GQ:PL	0/1:13,4:19:42:42,0,284	2	0	4	0
chr2	233681881	233681881	T	G	intronic	UGT1A10;UGT1A8;UGT1A9	.	.	.	.	428	424	473	197	0	867	0.505539	.	.	.	434018	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.297724	.	.	.	.	.	.	.	.	0.0682721	10555	154602	rs7586110	0.3789	0.3761	0.3766	0.3812	0.4147	0.3780	0.3777	0.4109	0.4093	0.2677	0.2150	0.4392	0.2203	0.4509	0.3963	0.3864	0.3689	0.4147	0.3407	0.3409	0.3372	0.3444	0.4123	0.3383	0.3372	0.3972	0.3911	0.2656	0.4748	0.2715	0.4392	0.2030	0.4744	0.3639	0.3807	0.3145	0.4123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2726.03	34	chr2	233681881	.	T	G	2726.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.206;DP=333;ExcessHet=1.383;FS=2.637;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.06;SOR=0.927	GT:AD:DP:GQ:PL	0/1:35,23:58:99:553,0,1143	3	0	3	0
chr2	233760233	233760233	-	AT	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	27314	Crigler-Najjar_syndrome|not_specified|UGT1A1-related_disorder|not_provided|Crigler-Najjar_syndrome,_type_II|BILIRUBIN,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1|Lucey-Driscoll_syndrome|Gilbert_syndrome|Crigler-Najjar_syndrome_type_1|Irinotecan_response	MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MedGen:C1866173,OMIM:601816|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|MedGen:CN077989	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|drug_response|other	.	.	.	.	.	.	.	.	.	.	.	0.32528	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs34983651	0.3008	0.3073	0.2983	0.3034	0.3582	0.3001	0.2997	0.3546	0.3532	0.3449	0.2826	0.3392	0.1204	0.3429	0.3139	0.2993	0.3013	0.3582	0.3460	0.3472	0.3436	0.3485	0.4077	0.3435	0.3425	0.3928	0.3907	0.3979	0.4218	0.3198	0.3809	0.1263	0.4167	0.3231	0.3199	0.3187	0.4077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	510.93	21	chr2	233760233	.	C	CAT	510.93	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.614;DP=121;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.157;SOR=1.085	GT:AD:DP:GQ:PL	0/1:7,1:8:13:13,0,240	3	0	3	0
chr2	237376910	237376910	C	T	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon4:c.G1111A:p.A371T,COL6A3:NM_057164:exon5:c.G1711A:p.A571T,COL6A3:NM_057165:exon6:c.G2314A:p.A772T,COL6A3:NM_057167:exon6:c.G2314A:p.A772T,COL6A3:NM_004369:exon7:c.G2932A:p.A978T	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	275361	not_provided|Bethlem_myopathy_1A	MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.560	0.278636386093	.	.	1.647e-05	9.61e-05	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs768292803	1.094e-05	1.094e-05	1.225e-05	9.625e-06	4.472e-05	6.48e-06	5.24e-06	7.41e-06	3.32e-06	2.987e-05	4.472e-05	0	0	0	0	8.993e-06	1.656e-05	2.319e-05	6.57e-06	6.567e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.12	0.68238	T	0.001	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000065	0.52346	D	0.000000	0.999988	0.54805	D	2.93	0.84523	M	-1.84	0.84195	D	-1.79	0.50992	N	0.808	0.80375	0.555	0.91305	D	0.777	0.92409	D	10	0.76551694	0.76672	D	0.278636	0.90149	D	0.560	0.81946	.	.	0.921606374446	0.92081	0.46413481424100134	0.46332	0.637461451962	0.57488	0.53922867775	0.44337	T	0.31349	0.68524	T	0.124966	0.66868	D	0.123257	0.78452	D	0.911743462085724	0.56741	D	0.946505	0.81072	D	0.16225107	0.36289	0.15669008	0.36673	0.16225107	0.36289	0.15669008	0.36672	-5.277	0.48571	T	0.7377850215646607	0.81975	0.305	0.53410	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.210627	0.63609	24.6	0.99941675599110291	0.99797	0.99018	0.90030	D	AEFDGBI	0.633712	0.61385	D	0.699067688359955	0.79570	7.105884	0.648990876607961	0.78535	6.895935	0.999999995913573	0.74766	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.55	5.55	0.83298	2.222000	0.42568	7.620000	0.62269	0.599000	0.40250	0.962000	0.33725	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	19.496	0.95067	932	0.16191	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2294.83	38	chr2	237376910	.	C	T	2294.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.158;DP=328;ExcessHet=0;FS=2.151;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=-1.009;SOR=0.535	GT:AD:DP:GQ:PL	0/1:62,83:145:99:2305,0,1652	5	0	1	0
chr2	240745853	240745853	G	A	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001379636:exon29:c.C2956T:p.P986S,KIF1A:NM_001379637:exon29:c.C3031T:p.P1011S,KIF1A:NM_001379639:exon29:c.C2956T:p.P986S,KIF1A:NM_001379640:exon29:c.C2953T:p.P985S,KIF1A:NM_001379641:exon29:c.C2956T:p.P986S,KIF1A:NM_001379648:exon29:c.C3031T:p.P1011S,KIF1A:NM_001379649:exon29:c.C2956T:p.P986S,KIF1A:NM_001379650:exon29:c.C2956T:p.P986S,KIF1A:NM_001379651:exon29:c.C2956T:p.P986S,KIF1A:NM_001379653:exon29:c.C2956T:p.P986S,KIF1A:NM_004321:exon29:c.C2956T:p.P986S,KIF1A:NM_001320705:exon30:c.C2983T:p.P995S,KIF1A:NM_001330289:exon30:c.C2983T:p.P995S,KIF1A:NM_001330290:exon30:c.C3058T:p.P1020S,KIF1A:NM_001379632:exon30:c.C3208T:p.P1070S,KIF1A:NM_001379633:exon30:c.C3232T:p.P1078S,KIF1A:NM_001379634:exon30:c.C3058T:p.P1020S,KIF1A:NM_001379635:exon30:c.C3058T:p.P1020S,KIF1A:NM_001379638:exon30:c.C2983T:p.P995S,KIF1A:NM_001379642:exon30:c.C3232T:p.P1078S,KIF1A:NM_001379645:exon30:c.C3232T:p.P1078S,KIF1A:NM_001379646:exon30:c.C3058T:p.P1020S,KIF1A:NM_001244008:exon31:c.C3259T:p.P1087S,KIF1A:NM_001379631:exon31:c.C3334T:p.P1112S	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	0	1479	37	6	0	49	0.0162953	.	.	.	193290	Hereditary_spastic_paraplegia_30|Neuropathy,_hereditary_sensory,_type_2C|Intellectual_disability,_autosomal_dominant_9|not_specified|not_provided|History_of_neurodevelopmental_disorder|Hereditary_spastic_paraplegia	MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357,Orphanet:101010|MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213,Orphanet:970|MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255,Orphanet:662367|MedGen:CN169374|MedGen:C3661900|MedGen:C2711754|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.107	0.0594245771781	0.0028	0.00219649	0.0041	0.0009	0.0034	0	0.0011	0.0057	0.0080	0.0030	0.0036093	558	154602	rs143037290	0.0046	0.0046	0.0045	0.0047	0.0083	0.0045	0.0045	0.0065	0.0058	0.0007	0.0030	0.0023	2.521e-05	0.0025	0.0083	0.0052	0.0042	0.0027	0.0037	0.0037	0.0039	0.0035	0.0059	0.0034	0.0033	0.0054	0.0052	0.0009	0	0.0046	0.0012	0	0.0025	0	0.0059	0.0043	0.0027	0.272	0.33585	T	0.306	0.23776	T	0.611	0.40609	P	0.223	0.40007	B	0.004401	0.33773	U	0.287719	0.996803	0.43428	D	1.01	0.25309	L	-0.56	0.73100	T	-2.13	0.57920	N	0.237	0.26717	-0.7380	0.58555	T	0.166	0.50486	T	10	0.006913662	0.00157	T	0.059425	0.67659	D	0.107	0.30369	.	.	0.488693090275	0.48504	0.6504251407530547	0.64978	0.442731520415	0.44227	0.410150766373	0.26477	T	0.234876	0.60200	T	-0.435711	0.01371	T	-0.392247	0.34289	T	0.00961875640062583	0.00125	T	0.937806	0.76632	D	0.10542153	0.24925	0.14566709	0.34540	0.12131904	0.28531	0.13042977	0.31339	-4.647	0.42416	T	.	.	0.080	0.07554	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.380396	0.30556	18.47	0.8779654377793944	0.17488	0.80881	0.40408	D	AEFDBCI	0.498454	0.53255	N	-0.244869568014696	0.31308	1.754247	-0.173117894835164	0.32530	1.851573	0.913811039238435	0.26435	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.17	4.17	0.48303	3.393000	0.52286	3.708000	0.39547	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.193000	0.21690	0.0:0.0:1.0:0.0	16.476	0.83976	994	0.00715	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.005051	0.006812	0.000000	0.000000	0.008621	0.009146	0.018939	0.08333	1156.83	34	chr2	240745853	.	G	A	1156.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.985;DP=290;ExcessHet=0;FS=2.96;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.14;SOR=0.819	GT:AD:DP:GQ:PL	0/1:37,45:82:99:1167,0,926	5	0	1	0
chr3	14158267	14158267	T	C	exonic	XPC	.	nonsynonymous SNV	XPC:NM_001354726:exon8:c.A1037G:p.E346G,XPC:NM_001354727:exon9:c.A1616G:p.E539G,XPC:NM_001354729:exon9:c.A1598G:p.E533G,XPC:NM_001354730:exon9:c.A1616G:p.E539G,XPC:NM_004628:exon9:c.A1616G:p.E539G	Xeroderma pigmentosum, group C, Autosomal recessive	0	1517	4	1	0	6	0.00197368	.	.	YES	292745	Xeroderma_pigmentosum|not_provided|Xeroderma_pigmentosum,_group_C	MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MedGen:C3661900|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720,Orphanet:910	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.146	0.0207686821974	.	0.000199681	0.0003	0	0.0002	0	0	0.0002	0	0.0013	0.0002329	36	154602	rs563236303	0.0001	0.0001	7.76e-05	0.0002	0.0016	0.0001	0.0001	0.0013	0.0013	0	0.0001	0	0	0	0.0014	4.137e-05	0.0002	0.0016	9.192e-05	9.186e-05	8.994e-05	9.398e-05	0.0008	5.523e-05	4.361e-05	0.0003	0.0002	4.812e-05	0	6.534e-05	0	0	0	0.0034	5.88e-05	0.0009	0.0008	0.006	0.61437	D	0.019	0.59159	D	0.589	0.39027	P	0.507	0.47859	P	0.032828	0.24977	N	0.490039	1	0.08975	N	2.625	0.76847	M	1.86	0.24285	T	-5.1	0.83027	D	0.29	0.32812	-1.0190	0.24041	T	0.098	0.36703	T	10	0.046277046	0.03798	T	0.020769	0.43429	T	0.146	0.38789	0.487	0.57098	0.562428738172	0.55904	0.4562593524259178	0.45543	0.423969410198	0.42838	0.253427088261	0.04138	T	0.199498	0.55679	T	-0.435597	0.01373	T	-0.43386	0.29497	T	0.20733011249593	0.20813	T	0.864413	0.56163	D	0.53266126	0.68981	0.57312363	0.75275	0.53266126	0.68982	0.57312363	0.75276	-10.63	0.77590	D	0.8147472838689709	0.88897	0.108	0.20430	B	.	.	3.863336	0.56045	23.7	0.99807742088000762	0.89174	0.72339	0.35411	D	AEFGBHCI	0.220856	0.34555	N	0.0518203606339997	0.44226	2.700549	-0.0169985880282578	0.38946	2.301974	0.999997998304014	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.8	4.6	0.56512	3.361000	0.52028	2.871000	0.35267	0.665000	0.62972	0.778000	0.29449	0.886000	0.27767	0.015000	0.10482	0.0:0.0:0.1331:0.8669	13.140	0.58847	789	0.46346	Rad4/PNGase transglutaminase-like fold	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2746.83	33	chr3	14158267	.	T	C	2746.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.01;DP=402;ExcessHet=0;FS=0.488;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.155;SOR=0.712	GT:AD:DP:GQ:PL	0/1:111,112:223:99:2757,0,2708	5	0	1	0
chr3	15521729	15521729	-	TG	upstream	COLQ	dist=23	.	.	Myasthenic syndrome, congenital, 5, Autosomal recessive	67	130	17	12	0	41	0.136213	.	.	.	293472	Congenital_Myasthenic_Syndrome,_Recessive|not_provided	MedGen:CN239337|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1179837883	0.1825	0.2084	0.1812	0.1838	0.3061	0.1819	0.1816	0.3005	0.2982	0.3061	0.2555	0.1878	0.2355	0.1166	0.2281	0.1758	0.1937	0.1911	0.2696	0.2733	0.2717	0.2674	0.3754	0.2674	0.2665	0.3703	0.3683	0.3754	0.1670	0.3074	0.2298	0.2766	0.1317	0.2705	0.2249	0.2744	0.2276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1125.92	36	chr3	15521729	.	T	TTG	1125.92	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.078;DP=145;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=0.049;SOR=0.641	GT:AD:DP:GQ:PL	0/1:7,10:17:99:311,0,193	2	0	4	0
chr3	81761503	81761503	C	T	exonic	GBE1	.	nonsynonymous SNV	GBE1:NM_000158:exon1:c.G15A:p.M5I	Glycogen storage disease IV, Autosomal recessive;Polyglucosan body disease, adult form, Autosomal recessive	1	1519	1	1	0	3	0.000986518	.	.	.	434587	Adult_polyglucosan_body_disease|not_provided|Glycogen_storage_disease,_type_IV|GBE1-related_disorder|not_specified|Glycogen_storage_disease_IV,_classic_hepatic	MONDO:MONDO:0009897,MedGen:C1849722,OMIM:263570,Orphanet:206583|MedGen:C3661900|MONDO:MONDO:0009292,MedGen:C0017923,OMIM:232500,Orphanet:367|MedGen:CN239402|MedGen:CN169374|MedGen:C1856301	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.024	0.00348851481564	0.0010	.	0.0008	0.0006	0.0006	0	0	0.0013	0	0.0002	0.0005951	92	154602	rs62267114	0.0015	0.0015	0.0016	0.0015	0.0019	0.0015	0.0015	0.0018	0.0018	0.0002	0.0007	3.849e-05	0	0	0.0006	0.0019	0.0011	0.0001	0.0012	0.0012	0.0012	0.0011	0.0020	0.0010	0.0010	0.0018	0.0016	0.0006	0	0.0008	0	0	0	0	0.0020	0.0024	0	0.55	0.06585	T	0.23	0.25135	T	0.0	0.02946	B	0.0	0.01387	B	0.598716	0.05633	U	1.413370	1	0.08975	N	0	0.06538	N	2.39	0.15724	T	-0.06	0.07882	N	0.12	0.11054	-0.9739	0.36366	T	0.021	0.08778	T	10	0.009051472	0.00205	T	0.003489	0.07908	T	0.024	0.04979	0.36	0.36385	0.202086224978	0.19791	0.47543763865538186	0.47462	0.0322088536778	0.03353	0.670867919922	0.62962	T	0.080025	0.36266	T	-0.652722	0.00070	T	-0.715293	0.05026	T	0.0025677427290719	0.00027	T	0.312169	0.06100	T	0.30917585	0.53715	0.21100564	0.45511	0.30917585	0.53715	0.21100564	0.45510	-2.716	0.07438	T	.	.	0.138	0.30238	B	.	.	0.557087	0.09254	6.039	0.92828722563206512	0.22360	0.00906	0.03544	N	ALL	0.039322	0.05693	N	-1.13790994922061	0.05981	0.2741486	-1.15391866656661	0.06697	0.3232697	0.99999999640944	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	2.29	1.39	0.21325	-0.644000	0.05512	-0.651000	0.08028	0.500000	0.22704	0.000000	0.06391	0.000000	0.08366	0.112000	0.18829	0.0:0.809:0.0:0.191	4.649	0.11971	658	0.62094	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	214.83	35	chr3	81761503	.	C	T	214.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.644;DP=161;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=1.2;SOR=0.627	GT:AD:DP:GQ:PL	0/1:8,10:18:99:225,0,214	5	0	1	0
chr3	87264357	87264357	T	C	exonic	POU1F1	.	nonsynonymous SNV	POU1F1:NM_000306:exon3:c.A370G:p.M124V,POU1F1:NM_001122757:exon3:c.A448G:p.M150V	Pituitary hormone deficiency, combined, 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	293054	POU1F1-related_disorder|Combined_Pituitary_Hormone_Deficiency,_Recessive|not_specified|Pituitary_hormone_deficiency,_combined,_1|not_provided	.|MedGen:CN239344|MedGen:CN169374|MONDO:MONDO:0024464,MedGen:C2751608,OMIM:613038|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.373	0.0245633569571	0.0012	0.000199681	0.0018	0.0003	0.0004	0	0.0050	0.0024	0.0033	0.0012	0.001727	267	154602	rs143373007	0.0025	0.0025	0.0025	0.0024	0.0027	0.0024	0.0024	0.0026	0.0026	0.0003	0.0008	0.0005	0	0.0052	0.0003	0.0027	0.0026	0.0015	0.0018	0.0018	0.0017	0.0019	0.0025	0.0016	0.0016	0.0022	0.0021	0.0003	0	0.0010	0.0017	0	0.0059	0	0.0025	0.0005	0.0012	0.16	0.58626	T	0.189	0.66756	T	0.002	0.15914	B	0.002	0.15521	B	0.000000	0.84330	D	0.073688	0.999626	0.50225	D	0.345	0.11182	N	-2.37	0.88220	D	-0.79	0.41239	N	0.526	0.57177	-0.3532	0.73461	T	0.474	0.79821	T	10	0.007046312	0.00160	T	0.024563	0.47547	T	0.373	0.69188	.	.	0.747280184004	0.74500	0.5955594665905477	0.59485	0.0523107335176	0.05754	0.537878155708	0.44145	T	0.189097	0.54321	T	-0.228197	0.16888	T	-0.101722	0.63264	T	0.0242057004690399	0.01171	T	0.831417	0.50357	T	0.20350711	0.42430	0.2508195	0.50680	0.20350711	0.42430	0.2508195	0.50679	-4.856	0.35633	T	0.05558086056417871	0.01242	0.078	0.09820	B	.;.;.	.;.;.	2.418193	0.31091	18.64	0.96350100827962482	0.29513	0.98770	0.86628	D	AEFDBI	0.902165	0.84973	D	-0.296953468049699	0.29266	1.621434	-0.0959812809506633	0.35557	2.058482	0.999745839683469	0.42466	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.64	4.46	0.53567	7.335000	0.78485	2.871000	0.35267	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.1296:0.0:0.0:0.8704	12.021	0.52638	623	0.65786	POU-specific domain|POU-specific domain;.;POU-specific domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	611.83	34	chr3	87264357	.	T	C	611.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.127;DP=228;ExcessHet=0;FS=2.322;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.035;SOR=1.063	GT:AD:DP:GQ:PL	0/1:28,26:54:99:622,0,718	5	0	1	0
chr3	119382295	119382295	C	G	exonic	ARHGAP31	.	synonymous SNV	ARHGAP31:NM_020754:exon5:c.C435G:p.T145T	Adams-Oliver syndrome 1, Autosomal dominant	0	1508	14	0	0	14	0.00462046	.	.	.	271517	ARHGAP31-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0004	0	0.0004	0	0	0.0005	0.0033	0.0007	0.0003493	54	154602	rs201927115	0.0002	0.0002	0.0002	0.0003	0.0054	0.0002	0.0002	0.0039	0.0034	2.987e-05	0.0004	0.0021	0	0	0.0054	0.0001	0.0004	0.0008	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	0.0002	2.405e-05	0	0.0005	0.0012	0	0	0.0068	0.0003	0.0005	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	0.003525	0.000000	0.004076	0.005848	0.000000	0.017241	0.000000	0.003788	0.08333	1492.83	34	chr3	119382295	.	C	G	1492.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.004;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-1.862;SOR=0.653	GT:AD:DP:GQ:PL	0/1:43,64:107:99:1503,0,924	5	0	1	0
chr3	160258644	160258644	-	A	ncRNA_intronic	TRIM59-IFT80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	212292	not_specified|Jeune_thoracic_dystrophy	MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3028	0.244409	0.2984	0.3269	0.1690	0.2153	0.4291	0.3213	0.3143	0.2482	0.0002305	6	26028	rs1460790711	0.2741	0.2825	0.2748	0.2734	0.3268	0.2733	0.2730	0.3214	0.3192	0.3268	0.1533	0.3455	0.1703	0.3775	0.2958	0.2784	0.2791	0.2180	0.3160	0.3146	0.3124	0.3197	0.3464	0.3136	0.3126	0.3416	0.3397	0.3464	0.5045	0.2019	0.3707	0.1787	0.4797	0.3134	0.3106	0.2913	0.2321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1498.22	26	chr3	160258644	.	G	GA	1498.22	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.774;DP=215;ExcessHet=2.3007;FS=2.566;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.385;SOR=0.465	GT:AD:DP:GQ:PL	0/1:13,8:21:99:145,0,288	1	1	4	0
chr3	165773492	165773492	C	T	exonic	BCHE	.	nonsynonymous SNV	BCHE:NM_000055:exon4:c.G1699A:p.A567T	Apnea, postanesthetic (3)	44	964	416	98	0	612	0.240945	.	.	YES	28259	Deficiency_of_butyrylcholinesterase|not_specified|not_provided|Butyrylcholinesterase_activity	MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.136	.	0.1977	0.158546	0.1891	0.1966	0.1155	0.1183	0.1714	0.2109	0.1991	0.1939	0.179157	27698	154602	rs1803274	0.1952	0.1965	0.1955	0.1949	0.2300	0.1946	0.1944	0.2197	0.2156	0.1919	0.1175	0.1779	0.1388	0.1691	0.2300	0.2027	0.1945	0.1868	0.1828	0.1828	0.1846	0.1809	0.1978	0.1810	0.1802	0.1950	0.1939	0.1886	0.2121	0.1383	0.1763	0.1173	0.1653	0.2007	0.1978	0.1835	0.1677	0.093	0.31532	T	0.15	0.37872	T	0.001	0.07471	B	0.012	0.16012	B	0.019382	0.27268	N	0.339910	0.933173	0.27002	P	2.455	0.71248	M	-0.18	0.77336	T	-0.52	0.38151	N	0.036	0.01068	-1.0170	0.24690	T	0.001	0.00222	T	9	0.0018072128	0.00024	T	.	.	.	0.136	0.36778	.	.	.	.	0.26196509411827273	0.26109	0.0146452542494	0.01391	0.319616317749	0.13362	T	0.358518	0.74836	T	-0.467858	0.00877	T	-0.301002	0.44619	T	0.0211996116972123	0.00822	T	0.774123	0.42528	T	0.22133149	0.44708	0.23066719	0.48175	0.23999383	0.46897	0.20989761	0.45352	-5.147	0.38398	T	.	.	0.085	0.16538	B	.;.	.;.	3.292023	0.45157	22.1	0.99632838182915928	0.76142	0.91322	0.53300	D	AEFI	0.801494	0.72719	D	-0.00633166657305249	0.41567	2.488702	0.123040286207381	0.45729	2.831012	0.00173072517578264	0.08818	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.03	4.14	0.47821	4.438000	0.59704	2.697000	0.34132	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9138:0.0:0.0862	11.972	0.52358	900	0.24599	Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain;Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain	BCHE	Heart_Atrial_Appendage	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.201010	0.212121	0.191576	0.211310	0.250000	0.146552	0.240854	0.196970	0.1667	1503.06	44	chr3	165773492	.	C	T	1503.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.694;DP=245;ExcessHet=0.4139;FS=4.243;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=0.941;SOR=1.264	GT:AD:DP:GQ:PL	0/1:13,16:29:99:481,0,380	4	0	2	0
chr3	195867623	195867623	C	T	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.G2726A:p.R909H,TNK2:NM_001382271:exon12:c.G2726A:p.R909H,TNK2:NM_005781:exon12:c.G2630A:p.R877H,TNK2:NM_001010938:exon13:c.G2747A:p.R916H,TNK2:NM_001382272:exon13:c.G2747A:p.R916H,TNK2:NM_001382273:exon13:c.G2675A:p.R892H,TNK2:NM_001382274:exon13:c.G2675A:p.R892H,TNK2:NM_001382275:exon13:c.G2771A:p.R924H	.	400	1078	42	2	0	46	0.0208901	.	.	YES	226709	Parkinson_disease|not_specified|not_provided	MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600,Orphanet:319705|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.068	.	0.0125	0.0123802	0.0154	0.0034	0.0042	0.0262	0.0084	0.0175	0.0117	0.0191	0.014256	2204	154602	rs112384084	0.0178	0.0177	0.0181	0.0176	0.0310	0.0177	0.0176	0.0295	0.0289	0.0029	0.0046	0.0062	0.0310	0.0088	0.0122	0.0192	0.0160	0.0168	0.0116	0.0116	0.0122	0.0109	0.0256	0.0111	0.0109	0.0220	0.0207	0.0029	0.0252	0.0092	0.0061	0.0256	0.0056	0	0.0173	0.0090	0.0151	0.023	0.48186	D	0.011	0.64786	D	0.001	0.45487	B	0.001	0.36635	B	0.006811	0.31785	N	0.269352	1	0.08975	N	1.75	0.45442	L	2.58	0.78314	T	-2.66	0.56945	D	0.316	0.35620	-0.8706	0.50484	T	0.108	0.39123	T	10	0.003913641	0.00075	T	.	.	.	0.068	0.19811	.	.	.	.	0.2962447242822695	0.29537	0.00608565397197	0.00532	0.361748546362	0.19640	T	0.164185	0.62476	T	-0.457805	0.01014	T	-0.411458	0.32056	T	0.0227457157469213	0.00993	T	0.814719	0.47762	T	0.029449383	0.02443	0.04295818	0.05234	0.029449383	0.02442	0.04295818	0.05234	-4.301	0.28191	T	.	.	0.084	0.20819	B	.;.;.;.	.;.;.;.	1.501373	0.19302	14.19	0.99242210944040943	0.56597	0.10679	0.16116	N	AEFBI	0.105615	0.21099	N	-0.612583560552999	0.18565	0.9648751	-0.643368426731154	0.18384	0.9818554	0.0543882488054926	0.14972	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.61	0.166	0.14287	0.806000	0.26786	-3.504000	0.02736	-0.839000	0.02805	0.287000	0.25205	0.000000	0.08366	0.344000	0.25523	0.0:0.4359:0.0:0.5641	9.199	0.36411	889	0.27310	.;.;.;.	.	.	.	.	rs112384084	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012121	0.005102	0.005450	0.005882	0.000000	0.000000	0.018405	0.030303	0.1667	586.06	37	chr3	195867623	.	C	T	586.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.86;DP=210;ExcessHet=0.4139;FS=3.583;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=1.65;SOR=1.174	GT:AD:DP:GQ:PL	0/1:26,17:43:99:438,0,629	4	0	2	0
chr4	670068	670068	C	T	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_001350155:exon18:c.C1306T:p.R436W,PDE6B:NM_001350154:exon20:c.C1624T:p.R542W	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	0	1491	30	1	0	32	0.0106171	.	.	.	299205	Retinitis_pigmentosa|not_provided|Congenital_stationary_night_blindness_autosomal_dominant_2	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900|MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0118	0.00379393	0.0115	0.0035	0.0023	0	0.0227	0.0164	0.0133	0.0051	0.0115005	1778	154602	rs61733857	0.0143	0.0143	0.0144	0.0141	0.0159	0.0141	0.0140	0.0157	0.0156	0.0022	0.0040	0.0123	2.519e-05	0.0250	0.0078	0.0159	0.0125	0.0053	0.0108	0.0109	0.0106	0.0110	0.0162	0.0104	0.0102	0.0154	0.0150	0.0033	0.0033	0.0052	0.0167	0.0002	0.0223	0.0034	0.0162	0.0071	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.001359	0.008772	0.000000	0.008621	0.012195	0.007576	0.25	1904.0	34	chr4	670068	.	C	T	1904.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.671;DP=243;ExcessHet=0;FS=3.414;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=21.64;ReadPosRankSum=-0.151;SOR=0.363	GT:AD:DP:GQ:PL	0/1:21,21:42:99:528,0,585	4	1	1	0
chr4	6300980	6300980	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005:exon8:c.C1185T:p.V395V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	306	693	523	0	1739	0.739685	.	.	.	54598	WFS1-Related_Spectrum_Disorders|Wolfram_syndrome_1|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_provided|not_specified	MedGen:CN239410|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5531	0.641573	0.6245	0.4646	0.7443	0.9358	0.5720	0.5907	0.6355	0.6352	0.616195	95265	154602	rs1801206	0.6051	0.6051	0.6041	0.6061	0.9578	0.6040	0.6036	0.9497	0.9464	0.4555	0.7260	0.6765	0.9578	0.5715	0.5902	0.5890	0.6193	0.6353	0.5756	0.5759	0.5734	0.5779	0.9332	0.5724	0.5711	0.9111	0.9021	0.4596	0.3890	0.6659	0.6603	0.9332	0.5667	0.6156	0.5925	0.6087	0.6444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.592145	0.550505	0.592391	0.529240	0.600000	0.594828	0.612805	0.643939	0.75	31471.7	216	chr4	6300980	.	C	T	31471.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=-3.122;DP=1450;ExcessHet=1.383;FS=0.585;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=22.34;ReadPosRankSum=-0.927;SOR=0.73	GT:AD:DP:GQ:PL	1/1:0,210:210:99:6912,631,0	0	3	3	0
chr4	6301295	6301295	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1500T:p.N500N,WFS1:NM_006005:exon8:c.C1500T:p.N500N	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	10	265	679	568	0	1815	0.773987	.	.	YES	54604	WFS1-Related_Spectrum_Disorders|not_specified|Type_2_diabetes_mellitus|not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_6	MedGen:CN239410|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6323	0.729433	0.6595	0.6736	0.7600	0.9441	0.5735	0.6010	0.6641	0.7013	0.648394	100243	154602	rs1801214	0.6232	0.6230	0.6215	0.6249	0.9621	0.6221	0.6216	0.9540	0.9506	0.6757	0.7449	0.6960	0.9621	0.5729	0.6281	0.5982	0.6483	0.6951	0.6443	0.6444	0.6428	0.6459	0.9402	0.6409	0.6395	0.9181	0.9091	0.6704	0.3904	0.7014	0.6817	0.9402	0.5669	0.6531	0.6019	0.6596	0.7030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.658107	0.641414	0.689373	0.599415	0.700000	0.629310	0.643293	0.696970	0.75	20325.7	147	chr4	6301295	.	C	T	20325.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=2.02;DP=964;ExcessHet=1.383;FS=1.193;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=21.42;ReadPosRankSum=-1.333;SOR=0.808	GT:AD:DP:GQ:PL	1/1:0,127:127:99:4310,381,0	0	3	3	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	.	.	.	.	.	.	.	.	0.5	8564.51	106	chr4	9783510	.	T	C	8564.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.62;DP=423;ExcessHet=0.095;FS=11.012;MLEAC=6;MLEAF=0.5;MQ=59.94;MQRankSum=1.21;QD=24.82;ReadPosRankSum=-0.878;SOR=1.273	GT:AD:DP:GQ:PL	0/1:26,36:62:99:1004,0,609	2	2	2	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	0.8333	23731.2	162	chr4	38797027	.	C	A	23731.2	.	AC=10;AF=0.833;AN=12;BaseQRankSum=-2.965;DP=912;ExcessHet=0.4139;FS=0.699;MLEAC=10;MLEAF=0.833;MQ=53.81;MQRankSum=-7.152;QD=26.78;ReadPosRankSum=1.48;SOR=0.638	GT:AD:DP:GQ:PL	1/1:0,125:125:99:4234,374,0	0	4	2	0
chr4	47952607	47952607	C	T	exonic	CNGA1	.	nonsynonymous SNV	CNGA1:NM_001142564:exon3:c.G83A:p.R28Q,CNGA1:NM_000087:exon4:c.G83A:p.R28Q,CNGA1:NM_001379270:exon4:c.G83A:p.R28Q	Retinitis pigmentosa 49	3	1502	17	0	0	17	0.00562728	.	.	YES	298617	not_provided|Retinitis_pigmentosa	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.071	.	0.0139	0.00519169	0.0122	0.0036	0.0046	0.0001	0.0085	0.0174	0.0123	0.0094	0.0001153	3	26028	rs76537883	0.0182	0.0183	0.0185	0.0179	0.0213	0.0180	0.0179	0.0211	0.0210	0.0034	0.0050	0.0119	0.0002	0.0102	0.0056	0.0213	0.0141	0.0098	0.0120	0.0120	0.0121	0.0118	0.0195	0.0115	0.0113	0.0187	0.0183	0.0040	0.0175	0.0073	0.0086	0.0008	0.0093	0.0034	0.0195	0.0080	0.0102	0.082	0.58626	T	0.16	0.47828	T	0.898	0.49442	P	0.155	0.34417	B	0.361038	0.04304	N	1.415800	0.997448	0.22656	N	2.175	0.60977	M	1.93	0.22881	T	0.52	0.61722	N	0.083	0.06720	-1.0091	0.27198	T	0.039	0.16806	T	10	0.005485177	0.00121	T	.	.	.	0.071	0.20720	.	.	.	.	0.17732652607230018	0.17651	0.174178824029	0.19610	0.357477247715	0.19017	T	0.070313	0.33929	T	-0.51539	0.00468	T	-0.494175	0.22954	T	0.017528219432786	0.00488	T	0.820918	0.54045	T	0.077093594	0.17475	0.074509926	0.16307	0.07890601	0.17997	0.074509926	0.16307	-3.217	0.12689	T	.	.	0.085	0.23814	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.042600	0.40799	21.2	0.99876299245901246	0.95328	0.81625	0.40991	D	AEFI	0.438919	0.49811	N	0.131190669074656	0.47921	3.011245	0.16670852291499	0.48034	3.024903	0.0130674205775442	0.12411	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.2	4.35	0.51454	1.721000	0.37654	3.298000	0.37359	0.599000	0.40250	0.980000	0.35271	1.000000	0.68203	0.561000	0.30436	0.0:0.8407:0.1593:0.0	13.264	0.59554	379	0.83778	.;.;.;.;.;.;.;.	CNGA1|CNGA1|CNGA1|CNGA1|CNGA1|CNGA1|CNGA1|CNGA1|CNGA1|CNGA1	Adipose_Subcutaneous|Artery_Tibial|Colon_Transverse|Esophagus_Mucosa|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid	.	.	rs76537883	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.000000	0.08333	429.83	34	chr4	47952607	.	C	T	429.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.2;DP=204;ExcessHet=0;FS=1.273;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-3.013;SOR=1.022	GT:AD:DP:GQ:PL	0/1:18,19:37:99:440,0,360	5	0	1	0
chr4	153703504	153703504	T	C	exonic	TLR2	.	synonymous SNV	TLR2:NM_001318789:exon3:c.T597C:p.N199N,TLR2:NM_001318790:exon3:c.T597C:p.N199N,TLR2:NM_001318791:exon3:c.T597C:p.N199N,TLR2:NM_001318793:exon3:c.T597C:p.N199N,TLR2:NM_001318795:exon3:c.T597C:p.N199N,TLR2:NM_001318796:exon3:c.T597C:p.N199N,TLR2:NM_003264:exon3:c.T597C:p.N199N,TLR2:NM_001318787:exon4:c.T597C:p.N199N	.	433	374	514	201	0	916	0.550481	.	.	.	3197327	TLR2-related_disorder|COVID-19–associated_multisystem_inflammatory_syndrome_in_adults	.|MONDO:MONDO:0100319,MedGen:CN305503	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4947	0.414736	0.4113	0.6113	0.3166	0.2941	0.3755	0.4353	0.3833	0.3322	0.410745	63502	154602	rs3804099	0.4315	0.4315	0.4342	0.4288	0.6172	0.4306	0.4302	0.6102	0.6073	0.6172	0.3330	0.4315	0.3037	0.3765	0.4539	0.4448	0.4302	0.3318	0.4694	0.4697	0.4773	0.4612	0.6193	0.4665	0.4653	0.6129	0.6103	0.6193	0.3282	0.3800	0.4441	0.2870	0.3791	0.4592	0.4393	0.4748	0.3266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.447130	0.444444	0.479620	0.485380	0.650000	0.500000	0.384146	0.409091	0.1667	1798.06	44	chr4	153703504	.	T	C	1798.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.5;DP=343;ExcessHet=0.4139;FS=3.523;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.888;SOR=0.737	GT:AD:DP:GQ:PL	0/1:44,28:72:99:754,0,1239	4	0	2	0
chr4	153704257	153704257	T	C	exonic	TLR2	.	synonymous SNV	TLR2:NM_001318789:exon3:c.T1350C:p.S450S,TLR2:NM_001318790:exon3:c.T1350C:p.S450S,TLR2:NM_001318791:exon3:c.T1350C:p.S450S,TLR2:NM_001318793:exon3:c.T1350C:p.S450S,TLR2:NM_001318795:exon3:c.T1350C:p.S450S,TLR2:NM_001318796:exon3:c.T1350C:p.S450S,TLR2:NM_003264:exon3:c.T1350C:p.S450S,TLR2:NM_001318787:exon4:c.T1350C:p.S450S	.	422	830	239	31	0	301	0.153493	.	.	.	3196679	TLR2-related_disorder|COVID-19–associated_multisystem_inflammatory_syndrome_in_adults	.|MONDO:MONDO:0100319,MedGen:CN305503	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0638	0.108427	0.0914	0.0510	0.0657	0.2642	0.0363	0.0696	0.0727	0.1555	0.0886664	13708	154602	rs3804100	0.0817	0.0817	0.0794	0.0840	0.2792	0.0813	0.0811	0.2749	0.2731	0.0504	0.0667	0.0582	0.2792	0.0355	0.1245	0.0729	0.0862	0.1536	0.0710	0.0711	0.0690	0.0731	0.2543	0.0699	0.0695	0.2429	0.2383	0.0531	0.0110	0.0704	0.0646	0.2543	0.0333	0.1224	0.0691	0.0833	0.1486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.106244	0.050505	0.091033	0.093567	0.200000	0.129310	0.128049	0.151515	0.1667	3213.06	44	chr4	153704257	.	T	C	3213.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.54;DP=414;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.772;SOR=0.718	GT:AD:DP:GQ:PL	0/1:56,62:118:99:1472,0,1437	4	0	2	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	0.08333	2032.83	38	chr4	154586438	.	T	C	2032.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.39;DP=337;ExcessHet=0;FS=1.274;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=2.15;SOR=0.678	GT:AD:DP:GQ:PL	0/1:77,74:151:99:2043,0,1889	5	0	1	0
chr5	225400	225400	G	T	intronic	SDHA	.	.	.	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	6	1507	9	0	0	9	0.00297717	.	.	.	358790	not_specified|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Paragangliomas_5|Hereditary_cancer-predisposing_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0018	0.00139776	0.0021	0.0007	0.0008	0	0.0003	0.0033	0	0.0008	0.0018564	287	154602	rs185555941	0.0031	0.0031	0.0032	0.0031	0.0037	0.0031	0.0030	0.0036	0.0036	0.0005	0.0012	0.0030	0	0.0010	0.0035	0.0037	0.0027	0.0006	0.0022	0.0022	0.0024	0.0021	0.0039	0.0020	0.0020	0.0035	0.0033	0.0009	0	0.0013	0.0023	0	0.0003	0	0.0039	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	707.83	35	chr5	225400	.	G	T	707.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.835;DP=226;ExcessHet=0;FS=2.323;MLEAC=1;MLEAF=0.083;MQ=59.4;MQRankSum=-0.944;QD=13.36;ReadPosRankSum=0.641;SOR=0.537	GT:AD:DP:GQ:PL	0/1:26,27:53:99:718,0,681	5	0	1	0
chr5	13886136	13886138	AAA	-	intronic	DNAH5	.	.	.	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	.	.	.	.	.	.	.	.	.	295553	Primary_ciliary_dyskinesia|not_specified|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1980	0.1530	0.2345	0.0616	0.3012	0.2362	0.2935	0.0933	0.0001229	19	154602	rs201639682	0.2197	0.2090	0.2202	0.2191	0.2636	0.2189	0.2187	0.2584	0.2562	0.1733	0.2636	0.2290	0.0664	0.2132	0.2468	0.2261	0.2174	0.2025	0.2129	0.2043	0.2115	0.2145	0.2821	0.2108	0.2099	0.2742	0.2710	0.1491	0.2864	0.2821	0.2820	0.0620	0.2497	0.2924	0.2356	0.2207	0.2146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1840.53	19	chr5	13886135	.	CAAA	C	1840.53	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.796;DP=175;ExcessHet=1.383;FS=2.907;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=19.58;ReadPosRankSum=0.996;SOR=0.314	GT:AD:DP:GQ:PL	0/1:2,4:12:31:197,31,146	3	0	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1833.85	32	chr5	38528849	.	GAC	G	1833.85	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.84;DP=224;ExcessHet=0.7136;FS=0;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-0.119;SOR=0.718	GT:AD:DP:GQ:PL	1/1:0,21:23:63:698,63,0	2	2	2	0
chr5	126593308	126593308	-	ACACACAC	intronic	ALDH7A1	.	.	.	Epilepsy, pyridoxine-dependent, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1020034	not_provided|Pyridoxine-dependent_epilepsy	MedGen:C3661900|MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033426	87	26028	rs146736809	0.0498	0.0613	0.0490	0.0505	0.0684	0.0495	0.0493	0.0668	0.0662	0.0529	0.0438	0.0694	0.0613	0.0593	0.0560	0.0469	0.0546	0.0684	0.0704	0.0707	0.0688	0.0722	0.0893	0.0693	0.0688	0.0821	0.0792	0.0620	0.2246	0.0668	0.0926	0.0862	0.0897	0.0660	0.0677	0.0780	0.0893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3417.95	27	chr5	126593308	.	A	AACACACAC	3417.95	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.389;DP=220;ExcessHet=3.1439;FS=2.184;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.78;ReadPosRankSum=-0.18;SOR=0.935	GT:AD:DP:GQ:PL	0/1:18,6:28:99:159,0,741	5	0	1	0
chr5	127455393	127455393	C	T	intronic	MEGF10	.	.	.	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, Autosomal recessive;Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, Autosomal recessive	18	1479	21	4	0	29	0.00970874	0	0.018	.	295161	not_specified|MEGF10-related_myopathy|not_provided|MEGF10-related_disorder	MedGen:CN169374|MONDO:MONDO:0013731,MedGen:C3280679,OMIM:614399,Orphanet:439212|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0013	0.000798722	0.0016	9.925e-05	0.0026	0	0	0.0021	0.0066	0.0009	0.0015847	245	154602	rs185480820	0.0012	0.0012	0.0011	0.0013	0.0137	0.0012	0.0011	0.0113	0.0104	0.0013	0.0021	0.0064	2.52e-05	5.618e-05	0.0137	0.0010	0.0028	0.0009	0.0010	0.0010	0.0009	0.0012	0.0021	0.0009	0.0009	0.0015	0.0013	0.0003	0	0.0021	0.0043	0	0	0.0136	0.0012	0.0033	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	.	.	.	.	.	.	.	.	0.08333	604.83	34	chr5	127455393	.	C	T	604.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.707;DP=216;ExcessHet=0;FS=2.675;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-0.536;SOR=1.152	GT:AD:DP:GQ:PL	0/1:20,23:43:99:615,0,470	5	0	1	0
chr5	137621778	137621779	AC	-	UTR3	KLHL3	NM_001257194:c.*320_*319delGT;NM_001257195:c.*320_*319delGT;NM_017415:c.*320_*319delGT	.	.	Pseudohypoaldosteronism, type IID, Autosomal recessive, Autosomal dominant	198	17	1	10	0	21	0.381818	.	.	.	295447	not_provided|Autosomal_dominant_pseudohypoaldosteronism_type_1	MedGen:C3661900|MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001229	19	154602	rs3839339	0.5955	0.4913	0.5950	0.5960	0.6139	0.5923	0.5910	0.6098	0.6081	0.5778	0.5607	0.5865	0.4989	0.6331	0.5928	0.6139	0.5961	0.5130	0.8291	0.8282	0.8340	0.8240	0.8789	0.8253	0.8237	0.8730	0.8705	0.8015	0.9372	0.7848	0.8130	0.5670	0.8739	0.8571	0.8789	0.8235	0.6780	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	144.91	0	chr5	137621777	.	TAC	T	144.91	.	AC=4;AF=0.667;AN=6;DP=8;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.667;MQ=60;QD=28.98;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,3:3:9:103,9,0	1	2	0	3
chr5	138556481	138556481	G	A	exonic	HSPA9	.	synonymous SNV	HSPA9:NM_004134:exon16:c.C1933T:p.L645L	Anemia, sideroblastic, 4, Autosomal dominant;Even-plus syndrome, Autosomal recessive	451	281	404	386	0	1176	0.67664	.	.	.	1275200	not_provided|Even-plus_syndrome	MedGen:C3661900|MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5140	0.645767	0.4886	0.7500	0.3719	0.7866	0.3593	0.4053	0.4670	0.6394	0.0001153	3	26028	rs10117	0.4321	0.4321	0.4259	0.4383	0.8093	0.4312	0.4308	0.8019	0.7988	0.7504	0.3922	0.4426	0.8093	0.3505	0.5483	0.3963	0.4595	0.6371	0.5194	0.5195	0.5179	0.5211	0.8025	0.5164	0.5151	0.7821	0.7738	0.7485	0.5439	0.4278	0.4443	0.8025	0.3500	0.5476	0.4000	0.5005	0.6459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.546324	0.454545	0.528533	0.593567	0.550000	0.560345	0.573171	0.606061	0.8333	11891.2	91	chr5	138556481	.	G	A	11891.2	.	AC=10;AF=0.833;AN=12;BaseQRankSum=-1.906;DP=497;ExcessHet=0.4139;FS=3.579;MLEAC=10;MLEAF=0.833;MQ=59.99;MQRankSum=0;QD=24.27;ReadPosRankSum=1.98;SOR=0.692	GT:AD:DP:GQ:PL	0/1:35,27:62:99:592,0,982	0	4	2	0
chr5	148987810	148987811	TG	-	UTR3	SH3TC2	NM_024577:c.*16901_*16900delCA	.	.	Charcot-Marie-Tooth disease, type 4C, Autosomal recessive;Mononeuropathy of the median nerve, mild, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	301995	Charcot-Marie-Tooth_disease_type_4|Mononeuropathy_of_the_Median_Nerve	MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MedGen:C3150597	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.534744	.	.	.	.	.	.	.	.	0.008414	219	26028	rs71957589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3052	0.3077	0.3006	0.3102	0.5289	0.3027	0.3017	0.5108	0.5035	0.1710	0.2551	0.4557	0.3358	0.5289	0.3041	0.3913	0.3304	0.3109	0.3547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	43.97	1	chr5	148987809	.	CTG	C	43.97	.	AC=2;AF=0.333;AN=6;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;QD=21.98;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:54,6,0	2	1	0	3
chr5	148994601	148994608	TGGTTGGT	-	UTR3	SH3TC2	NM_024577:c.*10110_*10103delACCAACCA	.	.	Charcot-Marie-Tooth disease, type 4C, Autosomal recessive;Mononeuropathy of the median nerve, mild, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	297905	Charcot-Marie-Tooth_disease_type_4|not_provided|Mononeuropathy_of_the_Median_Nerve	MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MedGen:C3661900|MedGen:C3150597	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs564746895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3199	0.3214	0.3188	0.3210	0.4166	0.3174	0.3164	0.4111	0.4089	0.4166	0.2224	0.2920	0.3053	0.3088	0.2771	0.3310	0.2789	0.3146	0.3191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	83.18	.	chr5	148994600	.	ATGGTTGGT	A	83.18	.	AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.52;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	0	1	0	5
chr5	149026635	149026635	C	T	exonic	SH3TC2	.	nonsynonymous SNV	SH3TC2:NM_024577:exon12:c.G2990A:p.R997Q	Charcot-Marie-Tooth disease, type 4C, Autosomal recessive;Mononeuropathy of the median nerve, mild, Autosomal dominant	0	1510	12	0	0	12	0.00395778	.	.	YES	239775	Inborn_genetic_diseases|not_provided|Charcot-Marie-Tooth_disease_type_4|Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease_type_4C	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596,Orphanet:99949	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.245	0.0285784797279	0.0002	0.000998403	0.0004	0.0003	0.0003	0.0001	0	0.0004	0.0011	0.0004	0.0003299	51	154602	rs140307699	0.0003	0.0003	0.0003	0.0003	0.0054	0.0002	0.0002	0.0039	0.0034	0.0004	0.0010	0.0008	0.0003	0	0.0054	0.0002	0.0006	0.0002	0.0005	0.0005	0.0004	0.0006	0.0027	0.0004	0.0004	0.0020	0.0018	0.0003	0	0.0027	0.0006	0	0	0.0034	0.0002	0.0014	0	0.013	0.53900	D	0.03	0.54159	D	0.883	0.48537	P	0.055	0.25995	B	0.000652	0.42656	D	0.178976	0.820365	0.35379	D	1.04	0.26193	L	-1.15	0.77964	T	-1.35	0.33598	N	0.371	0.41261	-0.5933	0.65089	T	0.252	0.62223	T	10	0.022671163	0.00572	T	0.028578	0.51232	D	0.349	0.67049	.	.	0.759444997776	0.75725	0.18556143942894496	0.18474	0.0829618324035	0.09358	0.389659881592	0.23622	T	0.214152	0.57566	T	-0.225929	0.17190	T	-0.197009	0.54930	T	0.0181429474112957	0.00536	T	0.89941	0.64770	D	0.15207776	0.34539	0.1256997	0.30284	0.15207776	0.34539	0.1256997	0.30284	-6.133	0.47379	T	0.3858751087232162	0.47969	0.12	0.24767	B	.;.	.;.	4.318094	0.66070	24.9	0.99708630851619062	0.81143	0.80026	0.39776	D	AEFDBI	0.475873	0.51953	N	0.307016538149563	0.56509	3.815622	0.396890965903832	0.61372	4.336468	0.99998660577659	0.51787	0.554377	0.28877	0	0.59043	0.45803	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.37	4.43	0.52967	2.913000	0.48487	4.760000	0.44710	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.8485:0.0:0.1515	10.857	0.46011	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.010870	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	627.83	33	chr5	149026635	.	C	T	627.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.13;DP=238;ExcessHet=0;FS=3.894;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=1.83;SOR=1.287	GT:AD:DP:GQ:PL	0/1:38,22:60:99:638,0,1042	5	0	1	0
chr5	149041502	149041502	G	A	exonic	SH3TC2	.	synonymous SNV	SH3TC2:NM_024577:exon6:c.C645T:p.S215S	Charcot-Marie-Tooth disease, type 4C, Autosomal recessive;Mononeuropathy of the median nerve, mild, Autosomal dominant	0	1456	66	0	0	66	0.0221625	.	.	.	135748	Inborn_genetic_diseases|not_specified|Susceptibility_to_mononeuropathy_of_the_median_nerve,_mild|Charcot-Marie-Tooth_disease_type_4C|Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease_type_4|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596,Orphanet:99949|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0072	0.00738818	0.0094	0.0017	0.0028	0	0.0044	0.0102	0.0044	0.0225	0.0090296	1396	154602	rs80227512	0.0093	0.0093	0.0088	0.0099	0.0220	0.0092	0.0092	0.0212	0.0208	0.0014	0.0039	0.0145	2.519e-05	0.0054	0.0125	0.0093	0.0086	0.0220	0.0065	0.0065	0.0069	0.0061	0.0226	0.0062	0.0060	0.0191	0.0178	0.0018	0	0.0042	0.0161	0.0002	0.0038	0	0.0094	0.0061	0.0226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.009567	0.000000	0.005435	0.011696	0.050000	0.000000	0.018293	0.015152	0.08333	1866.83	33	chr5	149041502	.	G	A	1866.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.12;DP=334;ExcessHet=0;FS=2.075;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-0.07;SOR=0.91	GT:AD:DP:GQ:PL	0/1:78,69:147:99:1877,0,1859	5	0	1	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_004415:exon24:c.G8472C:p.G2824G	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	5	101	508	907	1	2323	0.919968	.	.	.	54134	Woolly_hair-skin_fragility_syndrome|not_provided|DSP-related_disorder|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis|Cardiovascular_phenotype|Lethal_acantholytic_epidermolysis_bullosa|Keratosis_palmoplantaris_striata_2	MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|.|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6881	0.709465	0.7117	0.6397	0.7338	0.8066	0.6397	0.7101	0.6850	0.7272	0.139468	21562	154602	rs2744380	0.7026	0.7025	0.7013	0.7039	0.8141	0.7014	0.7009	0.8067	0.8036	0.6292	0.7523	0.7458	0.8141	0.6463	0.7567	0.6983	0.7106	0.7218	0.6908	0.6909	0.6880	0.6938	0.7964	0.6873	0.6859	0.7760	0.7677	0.6384	0.6941	0.7554	0.7524	0.7964	0.6493	0.7993	0.7001	0.7079	0.7252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.767875	0.792929	0.766304	0.698830	0.800000	0.810345	0.829268	0.704545	0.8333	58405.1	351	chr6	7585734	.	G	C	58405.1	.	AC=10;AF=0.833;AN=12;DP=1793;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.833;MQ=60;QD=34.28;SOR=0.953	GT:AD:DP:GQ:PL	1/1:0,302:302:99:9878,905,0	1	5	0	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	.	.	.	.	.	.	.	.	0.5833	9732.88	48	chr6	32039081	.	C	A	9732.88	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-0.911;DP=408;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=59.97;MQRankSum=0;QD=29.76;ReadPosRankSum=1.75;SOR=0.705	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2485,228,0	2	3	1	0
chr6	49444686	49444686	G	A	exonic	MMUT	.	synonymous SNV	MMUT:NM_000255:exon9:c.C1629T:p.S543S	.	0	1482	38	2	0	42	0.0139721	.	.	YES	98589	Methylmalonic_aciduria_due_to_complete_methylmalonyl-CoA_mutase_deficiency|not_specified|Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency|not_provided	.|MedGen:CN169374|MONDO:MONDO:0009612,MedGen:C1855114,OMIM:251000,Orphanet:27|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0043	0.00359425	0.0049	0.0011	0.0029	0	0.0008	0.0069	0.0066	0.0044	0.0048576	751	154602	rs150642856	0.0065	0.0065	0.0064	0.0065	0.0203	0.0064	0.0063	0.0173	0.0162	0.0010	0.0036	0.0079	2.52e-05	0.0008	0.0203	0.0073	0.0064	0.0043	0.0048	0.0048	0.0050	0.0046	0.0079	0.0045	0.0044	0.0073	0.0071	0.0011	0.0022	0.0043	0.0075	0	0.0008	0.0272	0.0079	0.0080	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.012601	0.010101	0.009511	0.008772	0.050000	0.008621	0.018405	0.022727	0.08333	900.83	33	chr6	49444686	.	G	A	900.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.519;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.094;SOR=0.798	GT:AD:DP:GQ:PL	0/1:38,38:76:99:911,0,925	5	0	1	0
chr6	64886718	64886718	G	A	exonic	EYS	.	nonsynonymous SNV	EYS:NM_001142800:exon19:c.C2971T:p.L991F,EYS:NM_001292009:exon19:c.C2971T:p.L991F	Retinitis pigmentosa 25	1	1497	24	0	0	24	0.00795229	.	.	.	192093	Retinitis_pigmentosa_25|Optic_atrophy|Retinal_dystrophy|not_specified|Retinitis_pigmentosa|not_provided	MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791|Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124|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|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.167	0.0744851416317	.	.	0.0004	0	0	0	0	0.0003	0	0.0008	9.7e-05	15	154602	rs201819948	0.0004	0.0004	0.0004	0.0004	0.0101	0.0004	0.0004	0.0080	0.0072	0.0003	0.0003	0.0023	0	2.033e-05	0.0101	0.0003	0.0009	0.0006	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0	0	6.573e-05	0.0035	0	0	0.0068	0.0003	0	0.0002	0.056	0.38185	T	0.097	0.39190	T	0.356	0.33761	B	0.088	0.29688	B	.	.	.	.	0.999474	0.21134	N	1.205	0.30389	L	-2.91	0.91696	D	-1.34	0.34397	N	0.336	0.42247	-0.6871	0.61043	T	0.315	0.68504	T	9	0.04381132	0.03270	T	0.074485	0.72052	D	0.167	0.42761	.	.	0.241078983079	0.23725	0.5518934580232567	0.55115	0.00979768638769	0.00893	0.272145539522	0.06423	T	0.026573	0.19638	T	-0.345646	0.05006	T	-0.377896	0.35968	T	0.00665512794752755	0.00075	T	0.458254	0.14076	T	0.061071713	0.12605	0.066396594	0.13595	0.061071713	0.12605	0.066396594	0.13595	-4.519	0.31136	T	0.19831537238597025	0.26256	0.088	0.12985	B	.;.	.;.	0.883320	0.12567	9.094	0.98771526240813712	0.45986	0.11424	0.16625	N	AEFI	0.071038	0.14126	N	-0.975959284843479	0.09119	0.4302811	-1.00077579515748	0.09768	0.4879277	1.10563263840404E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.08	-0.107	0.12930	-0.414000	0.07179	-0.332000	0.09882	-0.114000	0.14653	0.094000	0.22667	0.000000	0.08366	0.988000	0.63387	0.1872:0.3002:0.3592:0.1534	1.643	0.02590	795	0.45444	.;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001247	0.000000	0.000000	0.004464	0.000000	0.000000	0.000000	0.000000	0.08333	265.83	21	chr6	64886718	.	G	A	265.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.15;DP=174;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=-1.005;SOR=0.525	GT:AD:DP:GQ:PL	0/1:17,13:30:99:276,0,387	5	0	1	0
chr6	131847856	131847856	-	GT	intronic	ENPP1	.	.	.	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	.	.	.	.	.	.	.	.	.	306046	Arterial_calcification,_generalized,_of_infancy,_1|not_provided|Hypophosphatemic_Rickets,_Recessive|not_specified	MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MedGen:C3661900|MedGen:CN239452|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0099124	258	26028	rs879243445	0.1164	0.1420	0.1109	0.1218	0.2260	0.1159	0.1156	0.2219	0.2202	0.0541	0.1701	0.1677	0.2260	0.1618	0.1174	0.1025	0.1337	0.1540	0.2005	0.2032	0.1967	0.2045	0.3235	0.1985	0.1977	0.3101	0.3047	0.0963	0.1496	0.2623	0.2420	0.3235	0.2116	0.2176	0.2296	0.2147	0.2345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	440.25	11	chr6	131847856	.	G	GGT	440.25	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.139;DP=115;ExcessHet=2.3007;FS=8.694;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0;SOR=2.03	GT:AD:DP:GQ:PL	0/1:4,1:5:12:12,0,99	3	0	3	0
chr6	151615542	151615542	G	A	exonic	CCDC170	.	nonsynonymous SNV	CCDC170:NM_025059:exon10:c.G1810A:p.V604I	.	426	448	452	196	0	844	0.485057	.	.	.	165622	not_specified|Estrogen_resistance_syndrome|CCDC170-related_condition	MedGen:CN169374|MONDO:MONDO:0014148,MedGen:C3809250,OMIM:615363,Orphanet:785|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	.	0.3802	0.349441	0.3172	0.5003	0.1910	0.3218	0.1861	0.3212	0.3056	0.3314	0.307053	47471	154602	rs6929137	0.3255	0.3255	0.3250	0.3260	0.4982	0.3247	0.3244	0.4918	0.4892	0.4982	0.2070	0.3629	0.2803	0.1923	0.3932	0.3303	0.3428	0.3334	0.3565	0.3568	0.3642	0.3484	0.4987	0.3540	0.3529	0.4931	0.4907	0.4987	0.2637	0.2723	0.3589	0.3187	0.1773	0.4252	0.3218	0.3667	0.3291	0.356	0.12070	T	0.224	0.25591	T	0.026	0.19406	B	0.015	0.17295	B	0.007735	0.31228	N	0.296403	0.0986944	0.36178	P	1.43	0.35840	L	3.03	0.08898	T	-0.01	0.07155	N	0.018	0.00252	-1.0055	0.28307	T	0.136	0.45241	T	9	0.00022158027	0.00010	T	.	.	.	0.044	0.11924	.	.	.	.	0.072239817166933	0.07160	0.0961944766766	0.10857	0.265175282955	0.05523	T	0.004809	0.04227	T	-0.803418	0.00007	T	-0.78301	0.02364	T	0.00568248394408548	0.00062	T	0.713629	0.32527	T	0.02158561	0.00769	0.03398084	0.02386	0.02158561	0.00769	0.039030753	0.03904	-4.215	0.26968	T	0.6843976527898016	0.76122	0.083	0.09191	B	.	.	1.233171	0.16282	12.44	0.85539978010704987	0.15956	0.53578	0.29406	D	AEFBCI	0.144195	0.26709	N	-0.602800261098824	0.18859	0.9825487	-0.494072335675999	0.22316	1.211517	0.0315713748674104	0.14009	0.516011	0.20929	0	0.573888	0.26702	0	0.491513	0.07944	0	0.586402	0.36253	0	.	.	6.16	3.37	0.37692	0.969000	0.28967	5.021000	0.46746	-0.113000	0.14837	0.637000	0.28059	1.000000	0.68203	0.773000	0.36634	0.126:0.1149:0.7591:0.0	9.868	0.40328	938	0.14419	.	CCDC170	Brain_Substantia_nigra	.	.	rs6929137	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	0.379536	0.357143	0.388587	0.415205	0.500000	0.396552	0.362805	0.337121	0.5833	12691.9	120	chr6	151615542	.	G	A	12691.9	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-0.896;DP=553;ExcessHet=0;FS=5.604;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=26.95;ReadPosRankSum=0.417;SOR=0.721	GT:AD:DP:GQ:PL	1/1:0,113:113:99:3483,339,0	2	3	1	0
chr6	152391580	152391580	-	AAAAAAA	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	306417	not_specified|Cerebellar_ataxia|not_provided|Emery-Dreifuss_muscular_dystrophy	MedGen:CN169374|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	.	.	.	.	.	.	.	.	.	.	.	.	0.0448	0.0344	0.0254	0.0783	0.0226	0.0343	0.0734	0.0880	0.0001537	4	26028	rs768125041	0.1086	0.1266	0.1084	0.1088	0.2137	0.1081	0.1079	0.2093	0.2075	0.0746	0.0628	0.0804	0.2137	0.0676	0.1152	0.1067	0.1079	0.1495	0.1938	0.2020	0.1976	0.1896	0.3497	0.1918	0.1909	0.3343	0.3281	0.1441	0.1000	0.1623	0.2110	0.3497	0.0922	0.2573	0.2180	0.2055	0.2643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	892.86	19	chr6	152391580	.	G	GAAAAAAA	892.86	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.085;DP=147;ExcessHet=0;FS=1.992;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=24.8;ReadPosRankSum=-0.871;SOR=0.465	GT:AD:DP:GQ:PL	1/0:0,2:5:26:276,67,46	4	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	892.86	19	chr6	152391580	.	G	GAAAAAA	892.86	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.085;DP=147;ExcessHet=0;FS=1.992;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=24.8;ReadPosRankSum=-0.871;SOR=0.465	GT:AD:DP:GQ:PL	0/1:0,3:5:26:276,47,26	4	0	2	0
chr6	159692840	159692840	A	G	exonic	SOD2	.	nonsynonymous SNV	SOD2:NM_000636:exon2:c.T47C:p.V16A,SOD2:NM_001024465:exon2:c.T47C:p.V16A,SOD2:NM_001024466:exon2:c.T47C:p.V16A,SOD2:NM_001322814:exon2:c.T47C:p.V16A,SOD2:NM_001322815:exon2:c.T47C:p.V16A,SOD2:NM_001322816:exon2:c.T47C:p.V16A	.	426	313	516	267	0	1050	0.626492	.	.	.	29790	SOD2_POLYMORPHISM|Microvascular_complications_of_diabetes,_susceptibility_to,_6	.|MONDO:MONDO:0012970,MedGen:C2675128,OMIM:612634	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.048	.	0.4731	0.410743	0.5024	0.4521	0.6492	0.1596	0.5033	0.5162	0.4902	0.5375	0.0001153	3	26028	rs4880	0.4921	0.4920	0.4930	0.4912	0.6131	0.4912	0.4908	0.6070	0.6045	0.4286	0.6131	0.5060	0.1309	0.4807	0.4419	0.5013	0.4763	0.5191	0.4704	0.4704	0.4750	0.4656	0.5368	0.4675	0.4663	0.5271	0.5231	0.4245	0.4901	0.5368	0.5193	0.1435	0.4668	0.4658	0.5033	0.4693	0.5118	0.926	0.09806	T	0.979	0.20680	T	0.024	0.19075	B	0.014	0.16862	B	0.003125	0.35389	N	0.321860	1	0.28987	P	.	.	.	2.8	0.17923	T	0.35	0.06138	N	0.034	0.02964	-0.9308	0.44021	T	0.008	0.02679	T	8	3.9671322e-05	0.00008	T	.	.	.	0.048	0.13305	.	.	.	.	0.24148455001478597	0.24062	0.559626915364	0.52497	0.639073014259	0.58432	T	0.006216	0.10632	T	-0.680986	0.00047	T	-0.607145	0.12218	T	0.00926767202390716	0.00118	T	0.00962761	0.00101	T	0.019719824	0.00509	0.04335931	0.05377	0.019719824	0.00508	0.04335931	0.05376	-2.567	0.10127	T	.	.	0.065	0.07412	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.792224	0.11628	8.214	0.81617120455707348	0.13775	0.13403	0.17836	N	ALL	0.032084	0.03557	N	-0.854084909372284	0.11949	0.5796162	-0.812104859326894	0.14202	0.7408959	0.999999999993235	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.9	3.08	0.34576	2.202000	0.42377	4.081000	0.41738	-0.176000	0.10722	0.649000	0.28163	0.999000	0.35428	0.111000	0.18785	0.1374:0.121:0.7416:0.0	9.062	0.35603	725	0.54935	.;.;.;.;.;.;.;.	RP3-393E18.2|MRPL18|RP3-393E18.2|WTAP|MRPL18|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|MRPL18|PNLDC1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2|ACAT2|MRPL18|MRPL18|RP3-393E18.2|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|MRPL18|SOD2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|ACAT2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|RP3-393E18.2|HNRNPH1P1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Hippocampus|Brain_Hippocampus|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood	SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|MRPL18	Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis	rs4880	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.440524	0.429293	0.388587	0.514620	0.650000	0.439655	0.429448	0.477273	0.4167	4420.5	76	chr6	159692840	.	A	G	4420.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.47;DP=329;ExcessHet=0.7136;FS=0;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=17.61;ReadPosRankSum=-0.006;SOR=0.709	GT:AD:DP:GQ:PL	0/1:22,35:57:99:957,0,490	2	1	3	0
chr7	21543219	21543219	C	A	UTR5	DNAH11	NM_001277115:c.-27C>A	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	16	1472	32	2	0	36	0.0120805	.	.	.	305659	Primary_ciliary_dyskinesia|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00559105	0.0127	0.0045	0.0075	0	0	0.0122	0.0172	0.0161	0.0025032	387	154602	rs72655966	0.0140	0.0131	0.0142	0.0137	0.0160	0.0138	0.0137	0.0158	0.0157	0.0016	0.0099	0.0064	0	0.0012	0.0156	0.0160	0.0141	0.0070	0.0084	0.0084	0.0089	0.0078	0.0133	0.0080	0.0079	0.0126	0.0123	0.0031	0	0.0109	0.0055	0.0002	0.0006	0.0102	0.0133	0.0085	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	279.83	20	chr7	21543219	.	C	A	279.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.323;DP=90;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=23.32;ReadPosRankSum=0.817;SOR=1.609	GT:AD:DP:GQ:PL	0/1:4,8:12:99:290,0,133	5	0	1	0
chr7	21773975	21773975	A	G	exonic	DNAH11	.	synonymous SNV	DNAH11:NM_001277115:exon56:c.A9312G:p.Q3104Q	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	5	1499	17	1	0	19	0.00629765	.	.	.	302471	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs886062181	4.934e-06	5.472e-06	2.79e-06	7.126e-06	0.0005	2.05e-06	1.32e-06	0.0001	7.66e-05	0	0	0	0	0	0.0005	9.168e-07	5.097e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.08333	510.83	37	chr7	21773975	.	A	G	510.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.75;DP=212;ExcessHet=0;FS=1.323;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=0.532;SOR=1.022	GT:AD:DP:GQ:PL	0/1:18,19:37:99:521,0,432	5	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9167	21537.0	99	chr7	21867834	.	G	GT	21537.0	.	AC=11;AF=0.917;AN=12;BaseQRankSum=-0.5;DP=546;ExcessHet=0;FS=0;MLEAC=11;MLEAF=0.917;MQ=60;MQRankSum=0;QD=36.19;ReadPosRankSum=1.69;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,59:59:99:1|1:21867834_G_GT:2648,178,0:21867834	0	5	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	624.12	21	chr7	30633896	.	TA	T	624.12	.	AC=3;AF=0.75;AN=4;BaseQRankSum=0.094;DP=125;ExcessHet=0;FS=2.657;MLEAC=5;MLEAF=1;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=0.299;SOR=0.24	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,12:17:0:1|0:30633895_AT_A:307,0,0:30633895	0	1	1	4
chr7	41966247	41966247	C	A	exonic	GLI3	.	synonymous SNV	GLI3:NM_000168:exon15:c.G2826T:p.P942P	Greig cephalopolysyndactyly syndrome, Autosomal dominant;Pallister-Hall syndrome, Autosomal dominant;Polydactyly, postaxial, types A1 and B, Autosomal dominant;Polydactyly, preaxial, type IV, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	267829	Pallister-Hall_syndrome|Greig_cephalopolysyndactyly_syndrome|not_provided	MONDO:MONDO:0007804,MedGen:C0265220,OMIM:146510,Orphanet:672|MONDO:MONDO:0008287,MedGen:C0265306,OMIM:175700,Orphanet:380|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0001	0.0018	0.0002	0	0	0	0	0	0.0001229	19	154602	rs34245321	3.984e-05	4.036e-05	5.196e-05	2.76e-05	0.0012	3.126e-05	2.858e-05	0.0009	0.0008	0.0012	8.962e-05	0	0	0	0.0002	0	0.0002	2.321e-05	0.0004	0.0004	0.0004	0.0005	0.0014	0.0004	0.0003	0.0012	0.0010	0.0014	0	0.0004	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.08333	621.83	42	chr7	41966247	.	C	A	621.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.39;DP=258;ExcessHet=0;FS=0.976;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=-0.884;SOR=0.901	GT:AD:DP:GQ:PL	0/1:39,26:65:99:632,0,982	5	0	1	0
chr7	50368258	50368258	C	T	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C413T:p.A138V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2742773	Acute_lymphoid_leukemia|not_provided|IKZF1-related_disorder	Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.119	0.00648398107326	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs541802498	0.0002	0.0002	0.0002	0.0002	0.0108	0.0001	0.0001	0.0083	0.0074	0.0001	0.0001	0	0	0	0.0108	9.462e-05	9.773e-05	9.558e-05	0.0001	0.0001	0.0001	9.415e-05	0.0002	7.58e-05	6.284e-05	0.0001	7.894e-05	0.0001	0	0	0	0	0	0.0034	0.0002	0	0	0.0	0.91255	D	.	.	.	0.107	0.26081	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.78	0.21644	N	0.086	0.06322	-1.0217	0.23162	T	0.044	0.19029	T	7	0.040712714	0.02663	T	0.006484	0.17072	T	0.119	0.33137	0.125	0.03095	0.082315109003	0.07666	.	.	.	.	.	.	.	0.067099	0.33114	T	-0.517168	0.00457	T	-0.695939	0.06050	T	0.0225006375234229	0.00965	T	0.256474	0.04006	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.53641	B	.	.	-0.715419	0.01285	0.068	0.38921415818926902	0.02654	0.00365	0.01864	N	AEFDGBI	0.038706	0.05518	N	-1.28043077984085	0.03911	0.1755919	-1.43338157960261	0.02923	0.1354314	0.999999707393444	0.74766	0.538715	0.22204	0	0.633563	0.54681	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.75	-5.29	0.02535	-1.011000	0.03763	-0.614000	0.08207	-1.126000	0.01464	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.2346:0.3975:0.2132:0.1546	1.526	0.02373	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1944.83	111	chr7	50368258	.	C	T	1944.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=590;ExcessHet=0;FS=3.143;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-0.545;SOR=0.979	GT:AD:DP:GQ:PL	0/1:57,75:132:99:1955,0,1293	5	0	1	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	514.03	34	chr7	56019598	.	AC	A	514.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.45;DP=147;ExcessHet=0.4139;FS=2.8;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=-0.351;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,4:30:90:0|1:56019585_C_A:90,0,1080:56019585	4	0	2	0
chr7	74053320	74053320	-	TG	intronic	ELN	.	.	.	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	311577	Cutis_laxa,_autosomal_dominant|Supravalvar_aortic_stenosis|not_provided	MONDO:MONDO:0019571,MedGen:C0268350,Orphanet:90348|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0594	0.0498	0.0290	0.0302	0.0243	0.0603	0.0760	0.0877	0.0354717	5484	154602	rs782441301	0.1125	0.1242	0.1127	0.1123	0.1405	0.1120	0.1119	0.1310	0.1272	0.0989	0.0798	0.1274	0.0588	0.0845	0.1405	0.1174	0.1164	0.1034	0.1344	0.1344	0.1380	0.1307	0.1514	0.1328	0.1322	0.1489	0.1479	0.1220	0.1678	0.1130	0.1702	0.0939	0.1013	0.2057	0.1514	0.1436	0.1330	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10577.4	80	chr7	74053320	.	C	CTG	10577.4	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.23;DP=741;ExcessHet=0.4139;FS=0.879;MLEAC=3;MLEAF=0.25;MQ=59.95;MQRankSum=0;QD=25.37;ReadPosRankSum=0.864;SOR=0.535	GT:AD:DP:GQ:PL	0/1:6,20:69:99:1863,1394,1482	3	0	3	0
chr7	75981512	75981512	C	G	intronic	POR	.	.	.	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Autosomal recessive;Disordered steroidogenesis due to cytochrome P450 oxidoreductase	0	1506	15	1	0	17	0.00561241	0.0011	0.096	.	311751	not_provided|Congenital_adrenal_hyperplasia_due_to_cytochrome_P450_oxidoreductase_deficiency	MedGen:C3661900|MONDO:MONDO:0013310,MedGen:C1860042,OMIM:613571,Orphanet:95699	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0007	0.0002	0.0010	0	0	0.0011	0.0017	0	0.0004916	76	154602	rs72555509	0.0005	0.0005	0.0005	0.0005	0.0181	0.0005	0.0005	0.0153	0.0142	0.0005	0.0009	0.0043	2.523e-05	3.804e-05	0.0181	0.0004	0.0010	0.0002	0.0004	0.0004	0.0005	0.0003	0.0007	0.0004	0.0003	0.0004	0.0003	4.81e-05	0	0.0007	0.0060	0	0	0.0034	0.0004	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	853.83	36	chr7	75981512	.	C	G	853.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.594;DP=267;ExcessHet=0;FS=3.105;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.822;SOR=1.121	GT:AD:DP:GQ:PL	0/1:38,37:75:99:864,0,1042	5	0	1	0
chr7	75986391	75986391	T	G	exonic	POR	.	synonymous SNV	POR:NM_001382662:exon15:c.T1803G:p.A601A,POR:NM_000941:exon16:c.T1953G:p.A651A,POR:NM_001382659:exon16:c.T1953G:p.A651A,POR:NM_001367562:exon17:c.T1953G:p.A651A,POR:NM_001382655:exon17:c.T2007G:p.A669A,POR:NM_001382657:exon17:c.T1953G:p.A651A,POR:NM_001382658:exon17:c.T1953G:p.A651A	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Autosomal recessive;Disordered steroidogenesis due to cytochrome P450 oxidoreductase	0	1514	7	1	0	9	0.00296345	.	.	.	700226	not_provided|Congenital_adrenal_hyperplasia_due_to_cytochrome_P450_oxidoreductase_deficiency	MedGen:C3661900|MONDO:MONDO:0013310,MedGen:C1860042,OMIM:613571,Orphanet:95699	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.082	0.00519710226754	7.8e-05	.	0.0001	0	0	0	0	0.0001	0.0011	0.0002	8.41e-05	13	154602	rs370865328	9.45e-05	9.44e-05	6.677e-05	0.0001	0.0006	8.143e-05	7.658e-05	0.0004	0.0004	0	0	0	0	1.921e-05	0.0002	7.015e-05	0.0002	0.0006	9.197e-05	9.188e-05	8.998e-05	9.405e-05	0.0002	5.526e-05	4.364e-05	5.28e-05	2.833e-05	4.812e-05	0	0.0002	0	0	0	0.0068	8.825e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1471.83	40	chr7	75986391	.	T	G	1471.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.53;DP=325;ExcessHet=0;FS=3.211;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.11;SOR=0.978	GT:AD:DP:GQ:PL	0/1:75,54:129:99:1482,0,1995	5	0	1	0
chr7	92499848	92499848	A	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303594	Peroxisome_biogenesis_disorder_1B|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder|Heimler_syndrome_1	MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MedGen:C4551980,OMIM:234580,Orphanet:3220	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6319	0.5664	0.6158	0.6094	0.7255	0.6498	0.6654	0.5841	0.0003458	9	26028	rs5885806	0.5851	0.5925	0.5867	0.5836	0.6467	0.5840	0.5835	0.6280	0.6204	0.5100	0.5557	0.5589	0.5474	0.5831	0.6467	0.5926	0.5761	0.5680	0.7451	0.7412	0.7444	0.7459	0.8506	0.7414	0.7399	0.8285	0.8195	0.6243	0.8190	0.7682	0.7791	0.6893	0.7818	0.7778	0.7999	0.7537	0.8506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	5153.38	32	chr7	92499847	.	CA	C	5153.38	.	AC=9;AF=0.75;AN=12;BaseQRankSum=2.66;DP=265;ExcessHet=0;FS=2.335;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=23.53;ReadPosRankSum=1.78;SOR=1.117	GT:AD:DP:GQ:PL	0/1:17,13:34:99:303,0,357	0	3	3	0
chr7	100106862	100106862	G	A	exonic	AP4M1	.	nonsynonymous SNV	AP4M1:NM_001363671:exon15:c.G1363A:p.A455T,AP4M1:NM_004722:exon15:c.G1342A:p.A448T	Spastic paraplegia 50, autosomal recessive, Autosomal recessive	0	1517	4	1	0	6	0.00197368	.	.	.	207436	not_provided|Hereditary_spastic_paraplegia_50|not_specified|Hereditary_spastic_paraplegia|AP4M1-related_disorder	MedGen:C3661900|MONDO:MONDO:0013048,MedGen:C2752008,OMIM:612936,Orphanet:280763|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.098	0.00721912620788	0.0002	.	0.0002	0	0.0002	0	0	0.0003	0.0023	0.0001	0.0002264	35	154602	rs147738731	0.0003	0.0003	0.0002	0.0003	0.0088	0.0002	0.0002	0.0069	0.0062	0.0002	0.0002	0.0025	5.038e-05	0	0.0088	0.0002	0.0004	0.0001	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	0	0.0003	0.0029	0.0002	0	0.0032	0.0003	0	0	0.039	0.42487	D	0.494	0.25907	T	0.008	0.14655	B	0.004	0.10090	B	0.000007	0.62929	D	0.110266	0.988929	0.43968	D	-0.625	0.02162	N	2.17	0.19020	T	-0.45	0.14782	N	0.068	0.11340	-0.9885	0.32978	T	0.016	0.06425	T	10	0.038645953	0.02297	T	0.007219	0.19143	T	0.098	0.28162	.	.	0.36893422563	0.36505	0.4587114228224545	0.45789	0.10008063047	0.11309	0.508121609688	0.39959	T	0.058399	0.30832	T	-0.440513	0.01285	T	-0.57435	0.15052	T	0.0357600004055112	0.02939	T	0.852415	0.53747	D	0.19090977	0.40695	0.11519746	0.27807	0.23768955	0.46636	0.09829594	0.23429	-2.942	0.09569	T	0.2559488148643369	0.34605	0.079	0.10931	B	.;.;.;.	.;.;.;.	3.560942	0.50109	22.9	0.99171917894246964	0.54412	0.79283	0.39257	D	AEFDGBI	0.185938	0.31326	N	-0.518033416493859	0.21496	1.141258	-0.324148020133679	0.27321	1.515183	0.999999515887781	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.81	3.84	0.43422	2.187000	0.42234	9.672000	0.81222	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	0.138000	0.19872	0.1136:0.0:0.6669:0.2194	4.651	0.11978	208	0.91895	Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.008772	0.000000	0.017241	0.000000	0.007576	0.08333	668.83	35	chr7	100106862	.	G	A	668.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.014;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=3.12;SOR=0.705	GT:AD:DP:GQ:PL	0/1:20,30:50:99:679,0,440	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	9290.48	40	chr7	103989356	.	T	TGCCGCC	9290.48	.	AC=10;AF=0.833;AN=12;BaseQRankSum=2.1;DP=386;ExcessHet=0;FS=7.742;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=30.24;ReadPosRankSum=-2.012;SOR=1.501	GT:AD:DP:GQ:PL	1/1:0,46:48:99:1947,136,0	0	4	2	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	0.8333	15597.2	111	chr7	127611134	.	T	G	15597.2	.	AC=10;AF=0.833;AN=12;BaseQRankSum=1.54;DP=597;ExcessHet=0.4139;FS=0.71;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=26.57;ReadPosRankSum=1.9;SOR=0.703	GT:AD:DP:GQ:PL	1/1:0,97:97:99:3198,291,0	0	4	2	0
chr7	131505863	131505863	C	T	intronic	PODXL	.	.	.	.	.	.	.	.	.	.	.	0.6426	0.532	.	2137883	PODXL-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0001	0	0	0.0022	0	0	0	0	0.0001229	19	154602	rs201551993	2.992e-05	3.42e-05	2.532e-05	3.464e-05	0.0009	2.24e-05	1.987e-05	0.0007	0.0006	0	0	0	0.0009	0	0	9.242e-07	8.58e-05	3.769e-05	6.566e-05	6.562e-05	3.854e-05	9.4e-05	0.0015	3.514e-05	2.614e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1057.55	82	chr7	131505863	.	C	T	1057.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.176;DP=397;ExcessHet=11.5949;FS=460.771;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.75;ReadPosRankSum=1.72;SOR=9.869	GT:AD:DP:GQ:PL	0/1:33,21:54:99:197,0,501	0	0	6	0
chr7	140734797	140734797	-	A	intronic	BRAF	.	.	.	Adenocarcinoma of lung, somatic;Cardiofaciocutaneous syndrome, Autosomal dominant;Colorectal cancer, somatic (3);LEOPARD syndrome 3, Autosomal dominant;Melanoma, malignant, somatic (3);Nonsmall cell lung cancer, somatic (3);Noonan syndrome 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	302001	not_specified|Noonan_syndrome_with_multiple_lentigines|Noonan_syndrome|Cardio-facio-cutaneous_syndrome	MedGen:CN169374|MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:500|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.8742	0.7482	0.9238	0.9181	0.8901	0.8737	0.8776	0.8631	0.0001153	3	26028	rs397813649	0.8401	0.7641	0.8452	0.8349	0.8519	0.8386	0.8379	0.8502	0.8495	0.6242	0.8409	0.8259	0.8332	0.8231	0.8187	0.8519	0.8244	0.7675	0.8154	0.7916	0.8130	0.8183	0.8832	0.8111	0.8093	0.8681	0.8619	0.6770	0.7105	0.8832	0.8663	0.8820	0.8731	0.8107	0.8558	0.8501	0.8560	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	118.43	.	chr7	140734797	.	G	GA	118.43	.	AC=4;AF=1;AN=4;DP=14;ExcessHet=0;FS=0;MLEAC=5;MLEAF=1;MQ=60;QD=29.61;SOR=1.981	GT:AD:DP:GQ:PL	1/1:0,4:4:12:96,12,0	0	2	0	4
chr8	27803549	27803549	-	AC	UTR3	ESCO2	NM_001017420:c.*111_*112insAC	.	.	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	313989	not_provided|Roberts-SC_phocomelia_syndrome	MedGen:C3661900|MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs144484866	0.4041	0.4118	0.4055	0.4027	0.4982	0.4031	0.4027	0.4913	0.4885	0.3718	0.4614	0.3295	0.4982	0.3682	0.3292	0.4060	0.3981	0.3697	0.4399	0.4405	0.4415	0.4382	0.6505	0.4370	0.4359	0.6320	0.6245	0.4337	0.5066	0.5022	0.2907	0.6505	0.3778	0.3655	0.4312	0.4163	0.4347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	241.56	1	chr8	27803549	.	T	TAC	241.56	.	AC=4;AF=0.5;AN=8;BaseQRankSum=0.674;DP=20;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=30.19;ReadPosRankSum=-1.15;SOR=1.402	GT:AD:DP:GQ:PL	1/1:0,2:2:6:69,6,0	2	2	0	2
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	4643.59	42	chr9	2622146	.	ACGGCGGCGG	A	4643.59	.	AC=7;AF=0.583;AN=12;DP=170;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=60;QD=28.48;SOR=0.869	GT:AD:DP:GQ:PL	1/0:0,12:26:99:1083,588,677	1	2	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4643.59	42	chr9	2622146	.	A	ACGG	4643.59	.	AC=3;AF=0.25;AN=12;DP=170;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;QD=28.48;SOR=0.869	GT:AD:DP:GQ:PL	0/1:0,14:26:99:1083,495,453	3	0	3	0
chr9	2651967	2651967	C	T	intronic	VLDLR	.	.	.	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, Autosomal recessive	1	1514	6	1	0	8	0.00263505	.	.	.	903377	Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_1|not_provided	MONDO:MONDO:0024542,MedGen:C4551552,OMIM:224050,Orphanet:1766|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	3.067e-05	0.0011	0.0012	0.0001552	24	154602	rs200878136	0.0001	0.0001	0.0001	0.0002	0.0010	0.0001	0.0001	0.0008	0.0008	0	4.475e-05	3.829e-05	0	0	0.0010	9.445e-05	0.0002	0.0010	6.57e-05	6.566e-05	3.854e-05	9.413e-05	0.0008	3.516e-05	2.616e-05	0.0003	0.0002	0	0	0	0	0	0	0	8.819e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	440.83	27	chr9	2651967	.	C	T	440.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.09;DP=174;ExcessHet=0;FS=3.004;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.239;SOR=1.329	GT:AD:DP:GQ:PL	0/1:20,16:36:99:451,0,457	5	0	1	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	0.25	2173.03	36	chr9	34649445	.	A	G	2173.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.255;DP=297;ExcessHet=1.383;FS=1.131;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.164;SOR=0.61	GT:AD:DP:GQ:PL	0/1:28,33:61:99:872,0,774	3	0	3	0
chr9	35738149	35738149	C	T	exonic	GBA2	.	nonsynonymous SNV	GBA2:NM_001330660:exon15:c.G2201A:p.R734H,GBA2:NM_020944:exon15:c.G2201A:p.R734H	Spastic paraplegia 46, autosomal recessive, Autosomal recessive	418	1094	10	0	0	10	0.00454959	.	.	YES	459234	not_provided|Spastic_paraplegia|GBA2-related_disorder|Hereditary_spastic_paraplegia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|.|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	0.00666668549365	0.0004	.	0.0007	9.615e-05	0.0010	0.0001	0.0002	0.0009	0.0033	0.0005	0.0007115	110	154602	rs142621039	0.0006	0.0006	0.0006	0.0006	0.0281	0.0006	0.0006	0.0246	0.0232	0.0012	0.0010	0.0008	0	0.0001	0.0281	0.0004	0.0015	0.0005	0.0005	0.0005	0.0004	0.0005	0.0006	0.0004	0.0003	0.0005	0.0004	0.0002	0	0.0003	0.0006	0	0	0.0204	0.0006	0.0033	0.0002	0.049	0.39820	D	0.155	0.62352	T	0.04	0.73220	B	0.024	0.59664	B	0.000012	0.62929	D	0.103920	0.966584	0.38539	D	0.755	0.19153	N	.	.	.	-0.74	0.44284	N	0.177	0.20129	-0.7590	0.57460	T	0.182	0.52996	T	9	0.08138573	0.13316	T	0.006667	0.17614	T	0.062	0.17934	.	.	0.669898965789	0.66711	0.178110442209124	0.17730	0.371760189014	0.38677	0.438472211361	0.30369	T	0.606422	0.87461	D	-0.421568	0.01671	T	-0.402957	0.33040	T	0.010069983932768	0.00135	T	0.948405	0.88325	D	0.07569718	0.17072	0.054802172	0.09493	0.0821733	0.18917	0.046679176	0.06558	-6.574	0.50915	T	0.2545519719737281	0.34425	0.067	0.24363	B	.;.;.	.;.;.	4.728429	0.76132	26.5	0.99931123691797763	0.99387	0.86478	0.45766	D	AEFBCI	0.226858	0.35075	N	0.169245712864204	0.49725	3.169776	0.278100444905668	0.54264	3.591838	0.999993528147224	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.8	4.91	0.63897	3.265000	0.51264	4.918000	0.46015	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.7699:0.0:0.2301	9.153	0.36135	95	0.96074	Glycosyl-hydrolase family 116, catalytic region;Glycosyl-hydrolase family 116, catalytic region;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022155	0.010101	0.021739	0.076023	0.050000	0.017241	0.000000	0.003788	0.08333	829.83	33	chr9	35738149	.	C	T	829.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.31;DP=267;ExcessHet=0;FS=0.824;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-1.001;SOR=0.533	GT:AD:DP:GQ:PL	0/1:55,34:89:99:840,0,1321	5	0	1	0
chr9	114403319	114403319	C	T	exonic	WHRN	.	synonymous SNV	WHRN:NM_001346890:exon7:c.G1386A:p.T462T,WHRN:NM_001083885:exon11:c.G1290A:p.T430T,WHRN:NM_001173425:exon11:c.G2436A:p.T812T,WHRN:NM_015404:exon11:c.G2439A:p.T813T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	54840	not_specified|not_provided|Usher_syndrome_type_2D|Autosomal_recessive_nonsyndromic_hearing_loss_31	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012662,MedGen:C1568249,OMIM:611383,Orphanet:231178,Orphanet:886|MONDO:MONDO:0011767,MedGen:C1846839,OMIM:607084,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0056	0.00499201	0.0016	0.0164	0.0011	0.0006	0	1.517e-05	0.0011	0.0002	0.0014618	226	154602	rs61743618	0.0005	0.0005	0.0006	0.0004	0.0179	0.0005	0.0005	0.0167	0.0162	0.0179	0.0009	0	0.0002	0	0.0003	1.709e-05	0.0012	5.797e-05	0.0050	0.0050	0.0053	0.0047	0.0170	0.0047	0.0046	0.0160	0.0155	0.0170	0	0.0029	0	0.0002	0	0	2.941e-05	0.0038	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.002518	0.010101	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1297.83	33	chr9	114403319	.	C	T	1297.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.894;DP=284;ExcessHet=0;FS=2.521;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.869;SOR=0.47	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1308,0,1222	5	0	1	0
chr9	114406545	114406545	C	G	exonic	WHRN	.	synonymous SNV	WHRN:NM_001346890:exon5:c.G993C:p.R331R,WHRN:NM_001083885:exon9:c.G897C:p.R299R,WHRN:NM_001173425:exon9:c.G2046C:p.R682R,WHRN:NM_015404:exon9:c.G2046C:p.R682R	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	54830	not_provided|Usher_syndrome_type_2D|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_31	MedGen:C3661900|MONDO:MONDO:0012662,MedGen:C1568249,OMIM:611383,Orphanet:231178,Orphanet:886|MedGen:CN169374|MONDO:MONDO:0011767,MedGen:C1846839,OMIM:607084,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0061	0.00499201	0.0016	0.0167	0.0011	0	0	3.017e-05	0.0011	0.0002	0.0014812	229	154602	rs35258467	0.0005	0.0005	0.0006	0.0005	0.0184	0.0005	0.0005	0.0172	0.0168	0.0184	0.0009	0	0	0	0.0003	5.489e-05	0.0012	6.96e-05	0.0051	0.0051	0.0054	0.0048	0.0173	0.0048	0.0047	0.0163	0.0158	0.0173	0	0.0029	0	0	0	0	5.881e-05	0.0038	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.002016	0.010101	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1010.83	110	chr9	114406545	.	C	G	1010.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.99;DP=408;ExcessHet=0;FS=0.837;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-1.879;SOR=0.551	GT:AD:DP:GQ:PL	0/1:47,38:85:99:1021,0,1378	5	0	1	0
chr9	132897614	132897614	A	-	intronic	TSC1	.	.	.	Lymphangioleiomyomatosis;Tuberous sclerosis-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	58145	Tuberous_sclerosis_syndrome|not_provided|Tuberous_sclerosis_1|Hereditary_cancer-predisposing_syndrome|not_specified|Isolated_focal_cortical_dysplasia_type_II	MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MedGen:C3661900|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100,Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.342652	0.2827	0.3340	0.2770	0.2973	0.3197	0.2811	0.2717	0.2332	0.0002689	7	26028	rs118203716	0.1067	0.1211	0.1068	0.1066	0.1678	0.1063	0.1061	0.1637	0.1620	0.1678	0.1293	0.1160	0.0999	0.1215	0.1610	0.1053	0.1095	0.0811	0.0585	0.0528	0.0588	0.0581	0.0633	0.0572	0.0567	0.0615	0.0608	0.0601	0.0667	0.0514	0.0821	0.0102	0.0409	0.0750	0.0633	0.0607	0.0347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1292.11	38	chr9	132897613	.	GA	G	1292.11	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.642;DP=360;ExcessHet=6.1542;FS=0.574;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=7.69;ReadPosRankSum=1.18;SOR=0.638	GT:AD:DP:GQ:PL	0/1:8,10:24:99:191,0,149	3	0	3	0
chr9	133433485	133433485	C	T	exonic	ADAMTS13	.	synonymous SNV	ADAMTS13:NM_139025:exon10:c.C1200T:p.C400C,ADAMTS13:NM_139026:exon10:c.C1107T:p.C369C,ADAMTS13:NM_139027:exon10:c.C1200T:p.C400C	Thrombotic thrombocytopenic purpura, familial, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	736981	not_specified|not_provided|Upshaw-Schulman_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010122,MedGen:C1268935,OMIM:274150,Orphanet:93583	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0007	0.00139776	0.0009	0.0004	0.0003	0.0001	0.0003	0.0012	0.0011	0.0010	0.0008797	136	154602	rs142570561	0.0012	0.0012	0.0011	0.0012	0.0017	0.0011	0.0011	0.0015	0.0014	0.0002	0.0006	3.826e-05	0	0.0002	0.0009	0.0013	0.0007	0.0017	0.0009	0.0009	0.0010	0.0008	0.0014	0.0008	0.0007	0.0011	0.0010	0.0003	0	0.0014	0	0.0002	9.414e-05	0	0.0013	0.0009	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	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1149.83	34	chr9	133433485	.	C	T	1149.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.09;DP=289;ExcessHet=0;FS=1.648;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.619;SOR=0.872	GT:AD:DP:GQ:PL	0/1:54,46:100:99:1160,0,1416	5	0	1	0
chr9	133568656	133568656	G	A	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon15:c.G2142A:p.S714S,ADAMTSL2:NM_014694:exon15:c.G2142A:p.S714S	Geleophysic dysplasia 1, Autosomal recessive	0	1201	295	26	0	347	0.126228	.	.	.	311645	not_specified|Geleophysic_dysplasia_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00315	487	154602	rs11542920	0.0374	0.0374	0.0346	0.0402	0.1108	0.0371	0.0370	0.1090	0.1082	0.0228	0.0220	0.0601	0.0816	0.0235	0.1050	0.0308	0.0399	0.1108	0.0327	0.0327	0.0321	0.0334	0.1063	0.0320	0.0317	0.0987	0.0957	0.0246	0.0230	0.0275	0.0568	0.0623	0.0207	0.0748	0.0320	0.0322	0.1063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.3333	4491.94	37	chr9	133568656	.	G	A	4491.94	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.486;DP=337;ExcessHet=0.1336;FS=0.546;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=20.23;ReadPosRankSum=1.22;SOR=0.743	GT:AD:DP:GQ:PL	0/1:23,48:71:99:1258,0,519	3	1	2	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	.	.	.	.	.	.	.	.	0.75	8776.7	74	chr9	133569476	.	A	G	8776.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=0.783;DP=442;ExcessHet=1.383;FS=0.57;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=0.77;SOR=0.785	GT:AD:DP:GQ:PL	0/1:42,26:68:99:703,0,1142	0	3	3	0
chr9	133569488	133569488	C	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.C2325G:p.S775S,ADAMTSL2:NM_014694:exon16:c.C2325G:p.S775S	Geleophysic dysplasia 1, Autosomal recessive	0	1194	298	30	0	358	0.130371	.	.	.	307339	not_specified|Geleophysic_dysplasia_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028719	444	154602	rs2301606	0.0375	0.0376	0.0348	0.0403	0.1106	0.0373	0.0372	0.1087	0.1079	0.0229	0.0219	0.0599	0.0821	0.0235	0.1056	0.0310	0.0403	0.1106	0.0329	0.0329	0.0322	0.0336	0.1062	0.0321	0.0318	0.0986	0.0956	0.0246	0.0230	0.0276	0.0567	0.0634	0.0207	0.0719	0.0323	0.0321	0.1062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.4167	4787.48	36	chr9	133569488	.	C	G	4787.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.139;DP=325;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=23.24;ReadPosRankSum=-0.766;SOR=0.664	GT:AD:DP:GQ:PL	0/1:41,26:67:99:646,0,1096	3	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	964.16	3	chr10	8074278	.	G	GA	964.16	.	AC=10;AF=0.833;AN=12;BaseQRankSum=-0.697;DP=58;ExcessHet=0.4139;FS=0;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=23.52;ReadPosRankSum=0.366;SOR=1.565	GT:AD:DP:GQ:PL	1/1:0,6:6:18:169,18,0	0	4	2	0
chr10	13124053	13124053	A	T	exonic	OPTN	.	nonsynonymous SNV	OPTN:NM_021980:exon8:c.A941T:p.Q314L,OPTN:NM_001008212:exon9:c.A941T:p.Q314L,OPTN:NM_001008211:exon10:c.A941T:p.Q314L,OPTN:NM_001008213:exon10:c.A941T:p.Q314L	Amyotrophic lateral sclerosis 12;Glaucoma 1, open angle, E, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	YES	260885	not_provided|Motor_neuron_disease|Primary_open_angle_glaucoma|Glaucoma_1,_open_angle,_E|Amyotrophic_lateral_sclerosis_type_12|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0020128,MedGen:C0085084,Orphanet:98503|MONDO:MONDO:0100553,MedGen:C0339573,OMIM:137760|MedGen:C1842026|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435,Orphanet:803|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.738	0.274008816604	0.0002	.	0.0001	0	0	0	0	0.0002	0	0	0.0001164	18	154602	rs142812715	0.0001	0.0001	8.985e-05	0.0001	0.0009	9.402e-05	8.885e-05	0.0003	0.0002	0	8.951e-05	0.0003	0	1.873e-05	0.0009	0.0001	0.0001	1.16e-05	7.224e-05	7.222e-05	7.704e-05	6.721e-05	0.0002	3.969e-05	3.126e-05	9.046e-05	7.01e-05	0	0	0	0	0	0	0	0.0002	0	0	0.005	0.63226	D	0.152	0.34837	T	0.999	0.90584	D	0.962	0.75793	D	0.000001	0.84330	N	0.097074	0.99998	0.54805	D	2.54	0.74080	M	-2.41	0.88611	D	-4.78	0.81910	D	0.863	0.85979	0.678	0.92896	D	0.790	0.92875	D	10	0.860572	0.85275	D	0.274009	0.89986	D	0.738	0.90895	.	.	0.964764686011	0.96438	0.35367511590322304	0.35281	0.696005667869	0.60837	0.552599072456	0.46224	T	0.558293	0.85169	D	0.124077	0.66779	D	0.239388	0.85120	D	0.836075603961945	0.49010	D	0.837416	0.50983	T	0.3412119	0.56376	0.24317247	0.49755	0.32062453	0.54693	0.25503835	0.51178	-5.16	0.38881	T	0.665693735081604	0.73990	0.393	0.59188	A	.;.;.;.;.;.	.;.;.;.;.;.	4.776188	0.77372	26.7	0.99524233360155234	0.69469	0.96886	0.71475	D	AEFBI	0.649121	0.62369	D	0.461066120218178	0.64832	4.747036	0.416112380810645	0.62566	4.474424	0.472674538270319	0.20720	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.03	0.67015	7.461000	0.79870	11.226000	0.89934	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8702:0.0:0.0:0.1298	12.009	0.52568	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	261.83	29	chr10	13124053	.	A	T	261.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=1.58;SOR=0.871	GT:AD:DP:GQ:PL	0/1:21,14:35:99:272,0,461	5	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	0.75	3832.68	30	chr10	23193706	.	T	C	3832.68	.	AC=9;AF=0.75;AN=12;BaseQRankSum=3.38;DP=162;ExcessHet=0;FS=2.793;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=29.94;ReadPosRankSum=1.8;SOR=1.354	GT:AD:DP:GQ:PL	1/1:0,24:24:72:870,72,0	1	4	1	0
chr10	71679448	71679448	C	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon16:c.C1814T:p.A605V,CDH23:NM_001171931:exon16:c.C1814T:p.A605V,CDH23:NM_022124:exon16:c.C1814T:p.A605V	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	1505	13	3	0	19	0.0062727	.	.	.	55048	CDH23-related_disorder|Usher_syndrome_type_1|Usher_syndrome|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D|not_provided|not_specified	.|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.073	0.00517932925345	0.0002	0.000199681	0.0011	0.0001	0.0032	0	0	0.0006	0.0013	0.0038	0.0008667	134	154602	rs201475055	0.0006	0.0006	0.0005	0.0007	0.0076	0.0006	0.0005	0.0058	0.0052	2.987e-05	0.0015	0.0036	0	3.748e-05	0.0076	0.0002	0.0009	0.0043	0.0004	0.0004	0.0004	0.0004	0.0033	0.0003	0.0003	0.0021	0.0017	4.808e-05	0	0.0004	0.0052	0	0	0.0034	0.0002	0.0005	0.0033	.	.	.	0.146	0.37872	T	0.001	0.07471	B	0.008	0.13708	B	0.000930	0.41028	D	0.151129	0.999022	0.45899	D	0.59	0.15444	N	.	.	.	.	.	.	0.322	0.37613	-1.0155	0.25175	T	0.114	0.40467	T	9	0.010247946	0.00229	T	0.005179	0.13187	T	0.073	0.21317	.	.	0.655750398851	0.65288	0.2753463945352349	0.27447	.	.	0.533647298813	0.43549	T	0.015068	0.48939	T	-0.347976	0.04856	T	-0.272628	0.47554	T	0.0162588571730987	0.00398	T	0.830817	0.49719	T	0.09795787	0.23097	0.1249246	0.30106	0.11524452	0.27196	0.15859032	0.37027	-3.18	0.12238	T	.	.	0.085	0.12465	B	.;.;.;.;.;.	.;.;.;.;.;.	2.326079	0.29792	18.24	0.99425175833528467	0.63984	0.89425	0.49882	D	AEFDBI	0.427878	0.49164	N	-0.295210741250689	0.29333	1.625713	-0.131422616568966	0.34131	1.959893	0.999989680196985	0.51787	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	4.95	4.03	0.46115	1.483000	0.35105	1.401000	0.26197	0.599000	0.40250	0.999000	0.42656	0.990000	0.31317	0.549000	0.30150	0.0:0.8579:0.0:0.1421	11.799	0.51386	878	0.29785	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.011364	0.08333	2001.83	37	chr10	71679448	.	C	T	2001.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.24;DP=366;ExcessHet=0;FS=2.8;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=1.06;SOR=0.931	GT:AD:DP:GQ:PL	0/1:78,81:159:99:2012,0,1880	5	0	1	0
chr10	84196512	84196512	C	A	exonic	CDHR1	.	nonsynonymous SNV	CDHR1:NM_001171971:exon3:c.C159A:p.H53Q,CDHR1:NM_033100:exon3:c.C159A:p.H53Q	Cone-rod dystrophy 15, Autosomal recessive;Retinitis pigmentosa 65, Autosomal recessive	1	1434	83	4	0	91	0.0307536	.	.	.	311355	Cone-Rod_Dystrophy,_Recessive|not_provided	MedGen:CN239309|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.144	.	0.0277	0.019369	0.0271	0.0063	0.0288	0	0.0121	0.0366	0.0286	0.0205	0.0283437	4382	154602	rs12781048	0.0372	0.0372	0.0377	0.0367	0.0423	0.0369	0.0368	0.0416	0.0415	0.0067	0.0347	0.0321	5.038e-05	0.0148	0.0423	0.0419	0.0373	0.0214	0.0270	0.0270	0.0284	0.0255	0.0472	0.0263	0.0260	0.0444	0.0433	0.0079	0.0362	0.0472	0.0302	0.0006	0.0107	0.0374	0.0383	0.0388	0.0213	0.308	0.14111	T	0.403	0.17115	T	0.641	0.40421	P	0.268	0.39801	B	0.000015	0.62929	D	0.154450	0.981343	0.25046	N	0.205	0.09354	N	0.74	0.50459	T	-0.92	0.24676	N	0.055	0.05037	-0.9024	0.47739	T	0.011	0.04088	T	10	0.0019578338	0.00027	T	.	.	.	0.144	0.38394	0.331	0.31681	.	.	0.29565776148033995	0.29478	.	.	0.566160917282	0.48135	T	0.048686	0.28090	T	-0.659529	0.00063	T	-0.692281	0.06258	T	0.0209631022129474	0.00797	T	0.824018	0.48536	T	0.07863945	0.17920	0.123191066	0.29709	0.10534911	0.24908	0.123191066	0.29708	-8.307	0.63142	D	0.09224268079412712	0.05940	0.197	0.44643	B	.;.	.;.	-2.152051	0.00072	0.001	0.91846314731152934	0.21158	0.05838	0.11780	N	AEFDBHCI	0.063516	0.12278	N	-1.7516679423019	0.00674	0.02909864	-1.85243747483535	0.00605	0.02689948	0.999999879189793	0.74766	0.625279	0.40028	0	0.541168	0.11318	0	0.687403	0.62504	0	0.530356	0.10902	0	.	.	5.57	-11.1	0.00116	-3.401000	0.00537	-8.340000	0.00986	-1.579000	0.00922	0.000000	0.06391	0.000000	0.08366	0.718000	0.34707	0.0:0.7368:0.0:0.2632	23.509	0.99984	940	0.13648	Cadherin-like;.	CDHR1|CDHR1	Esophagus_Mucosa|Spleen	.	.	rs12781048	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.042296	0.025253	0.048913	0.058480	0.000000	0.094828	0.024390	0.026515	0.08333	1883.83	36	chr10	84196512	.	C	A	1883.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.267;DP=327;ExcessHet=0;FS=1.289;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.53;SOR=0.558	GT:AD:DP:GQ:PL	0/1:76,79:155:99:1894,0,1833	5	0	1	0
chr10	90918984	90919001	ATAAATAAATATATATAT	-	intronic	ANKRD1	.	.	.	.	556	191	222	402	151	1177	0.728693	.	.	.	323868	Congenital_total_pulmonary_venous_return_anomaly|ANKRD1-related_dilated_cardiomyopathy|Cardiovascular_phenotype|not_provided|not_specified|ANKRD1-related_disorder|Dilated_Cardiomyopathy,_Dominant	Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:CN119551|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374|.|MedGen:CN239310	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6044	0.5463	0.6736	0.6456	0.5899	0.6051	0.6198	0.5607	0.0001153	3	26028	rs72003210	0.5942	0.5613	0.5961	0.5922	0.6772	0.5931	0.5926	0.6701	0.6672	0.5057	0.6772	0.5707	0.5974	0.5946	0.6054	0.5930	0.5917	0.5952	0.4449	0.4284	0.4406	0.4495	0.5009	0.4419	0.4407	0.4934	0.4916	0.2740	0.5442	0.5009	0.4732	0.4252	0.5550	0.4375	0.4980	0.4596	0.4621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	5586.48	10	chr10	90918983	.	AATAAATAAATATATATAT	A	5586.48	.	AC=9;AF=0.75;AN=12;BaseQRankSum=0.888;DP=171;ExcessHet=0;FS=1.996;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=30.52;ReadPosRankSum=1.51;SOR=0.332	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,27:28:41:1|1:90918983_AATAAATAAATATATATAT_A:1155,41,0:90918983	1	4	1	0
chr10	123053170	123053170	T	-	intronic	ACADSB	.	.	.	2-methylbutyrylglycinuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	320535	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	Human_Phenotype_Ontology:HP:0020147,MONDO:MONDO:0012392,MedGen:C1864912,OMIM:610006,Orphanet:79157	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.841254	0.8350	0.8326	0.8529	0.8101	0.9059	0.8248	0.8622	0.8438	0.0002305	6	26028	rs11307362	0.7759	0.7604	0.7727	0.7790	0.8488	0.7745	0.7739	0.8346	0.8323	0.7806	0.8253	0.8229	0.7285	0.8290	0.8488	0.7651	0.7838	0.8403	0.8799	0.8792	0.8769	0.8830	0.9355	0.8759	0.8743	0.9125	0.9031	0.8803	0.7561	0.8926	0.9310	0.8443	0.9259	0.9555	0.8677	0.8681	0.9355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9167	3426.01	20	chr10	123053169	.	AT	A	3426.01	.	AC=11;AF=0.917;AN=12;BaseQRankSum=1.33;DP=175;ExcessHet=0;FS=1.716;MLEAC=11;MLEAF=0.917;MQ=60;MQRankSum=0;QD=25.76;ReadPosRankSum=1.13;SOR=0.427	GT:AD:DP:GQ:PL	1/1:0,13:13:39:344,39,0	0	5	1	0
chr11	1763883	1763883	G	A	UTR5	CTSD	NM_001909:c.-24C>T	.	.	Ceroid lipofuscinosis, neuronal, 10, Autosomal recessive	4	1513	5	0	0	5	0.00164962	.	.	.	140762	Neuronal_ceroid_lipofuscinosis_10|not_specified	MONDO:MONDO:0012414,MedGen:C1864669,OMIM:610127,Orphanet:228337|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	.	0.0007	0	0	4.53e-05	7	154602	rs587780917	0.0002	0.0002	0.0002	0.0002	0.0062	0.0001	0.0001	0.0044	0.0038	0.0003	0.0003	0.0010	0	0	0.0062	0.0001	0.0005	0.0001	0.0001	0.0001	8.995e-05	0.0001	0.0004	7.574e-05	6.279e-05	7.282e-05	5.089e-05	0	0	6.534e-05	0.0006	0	0	0.0068	0.0001	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	32.83	33	chr11	1763883	.	G	A	32.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.711;DP=117;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.05;ReadPosRankSum=-0.741;SOR=0.693	GT:AD:DP:GQ:PL	0/1:13,3:16:43:43,0,322	5	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	.	.	.	.	.	.	.	.	0.75	11875.7	164	chr11	2159830	.	T	G	11875.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=-0.074;DP=616;ExcessHet=1.383;FS=0;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.407;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,81:81:99:.:.:2719,243,0:.	0	3	3	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	.	.	.	.	.	.	.	.	0.6667	5553.62	49	chr11	17386857	.	C	T	5553.62	.	AC=8;AF=0.667;AN=12;BaseQRankSum=1.75;DP=277;ExcessHet=0.1336;FS=3.01;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=24.36;ReadPosRankSum=1.17;SOR=0.959	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1812,165,0	1	3	2	0
chr11	17393023	17393023	C	T	exonic	ABCC8	.	nonsynonymous SNV	ABCC8:NM_000352:exon39:c.G4714A:p.V1572I,ABCC8:NM_001287174:exon39:c.G4717A:p.V1573I,ABCC8:NM_001351295:exon39:c.G4780A:p.V1594I,ABCC8:NM_001351296:exon39:c.G4714A:p.V1572I,ABCC8:NM_001351297:exon39:c.G4711A:p.V1571I	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	0	1264	229	29	0	287	0.101954	.	.	.	167553	not_specified|Transient_Neonatal_Diabetes,_Dominant|not_provided|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hereditary_hyperinsulinism|Neonatal_hypoglycemia|Permanent_neonatal_diabetes_mellitus|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Hyperinsulinemic_hypoglycemia,_familial,_1|Hyperinsulinism,_Dominant/Recessive	MedGen:CN169374|MedGen:CN239283|MedGen:C3661900|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|.|Human_Phenotype_Ontology:HP:0001998,MedGen:C0158986|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|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|MedGen:CN239464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.172	.	0.0554	0.0311502	0.0562	0.0284	0.0283	0.0005	0.0384	0.0709	0.0721	0.0693	0.0551287	8523	154602	rs8192690	0.0582	0.0582	0.0571	0.0594	0.1014	0.0579	0.0578	0.0946	0.0919	0.0305	0.0323	0.1453	0.0047	0.0393	0.1014	0.0597	0.0621	0.0682	0.0505	0.0505	0.0521	0.0488	0.0637	0.0495	0.0492	0.0621	0.0614	0.0298	0.0462	0.0475	0.1510	0.0017	0.0370	0.0918	0.0637	0.0614	0.0559	0.461	0.08839	T	0.932	0.02759	T	0.005	0.12996	B	0.002	0.06944	B	0.001201	0.39899	N	0.211847	0.999403	0.46935	D	-0.105	0.04674	N	-2.66	0.90272	D	0.09	0.05917	N	0.031	0.00770	-0.8860	0.49273	T	0.060	0.24981	T	10	0.0015296042	0.00017	T	.	.	.	0.172	0.43662	.	.	.	.	0.686121190666775	0.68552	0.573721100839	0.53415	0.297033429146	0.09959	T	0.325293	0.69602	T	-0.524791	0.00412	T	-0.476345	0.24835	T	0.000768647569014637	0.00007	T	0.853715	0.53946	D	0.021481223	0.00753	0.025963206	0.00662	0.029005436	0.02326	0.025963206	0.00662	-3.672	0.18905	T	0.12925399021544368	0.13478	0.068	0.04316	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.999690	0.13782	10.33	0.86328323834373999	0.16463	0.25673	0.22769	N	AEFDBI	0.219392	0.34428	N	-0.96217036324778	0.09421	0.4458007	-0.827751153180889	0.13824	0.7191935	0.998921802827047	0.37985	0.713056	0.82018	0	0.547309	0.14657	0	0.608524	0.38960	0	0.542086	0.14980	0	.	.	5.2	1.28	0.20656	0.486000	0.22048	-3.237000	0.02946	-0.182000	0.10109	0.037000	0.20830	0.000000	0.08366	0.805000	0.37950	0.0:0.6252:0.0:0.3748	8.346	0.31437	594	0.68584	ABC transporter-like;.;ABC transporter-like;.;ABC transporter-like;ABC transporter-like;ABC transporter-like;ABC transporter-like	RP1-239B22.5|NCR3LG1|RP1-239B22.5|RP1-239B22.5|NCR3LG1|RP1-239B22.5|RP1-239B22.5|RP1-239B22.5|NCR3LG1|RP1-239B22.5|KCNJ11|NCR3LG1|NCR3LG1|RP1-239B22.5	Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Mucosa|Nerve_Tibial|Testis|Testis	.	.	rs8192690	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	0.088117	0.090909	0.103261	0.078947	0.000000	0.112069	0.100610	0.071970	0.25	4143.03	33	chr11	17393023	.	C	T	4143.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.86;DP=490;ExcessHet=1.383;FS=0.373;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.664;SOR=0.719	GT:AD:DP:GQ:PL	0/1:82,46:128:99:970,0,1919	3	0	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3592.5	34	chr11	17395957	.	A	G	3592.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.31;DP=263;ExcessHet=0.7136;FS=7.619;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=18.81;ReadPosRankSum=-0.317;SOR=0.313	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1542,129,0	2	1	3	0
chr11	17415389	17415389	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	6	93	473	950	0	2373	0.927315	.	.	.	1166874	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8933	0.903754	0.8760	0.9698	0.9072	0.9098	0.8748	0.8620	0.8614	0.8369	0.0257799	671	26028	rs4148626	0.8556	0.8554	0.8570	0.8542	0.9669	0.8544	0.8538	0.9580	0.9544	0.9669	0.9065	0.8766	0.8902	0.8652	0.8093	0.8498	0.8683	0.8281	0.8916	0.8915	0.8919	0.8912	0.9632	0.8876	0.8859	0.9553	0.9520	0.9632	0.9134	0.8977	0.8767	0.9121	0.8731	0.8163	0.8526	0.8931	0.8328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	5392.9	60	chr11	17415389	.	A	G	5392.9	.	AC=7;AF=0.583;AN=12;BaseQRankSum=1.08;DP=299;ExcessHet=0.7136;FS=9.048;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=20.9;ReadPosRankSum=0.667;SOR=0.348	GT:AD:DP:GQ:PL	0/1:22,19:41:99:468,0,514	1	2	3	0
chr11	17430945	17430945	G	A	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon12:c.C1686T:p.H562H,ABCC8:NM_001287174:exon12:c.C1686T:p.H562H,ABCC8:NM_001351295:exon12:c.C1686T:p.H562H,ABCC8:NM_001351296:exon12:c.C1683T:p.H561H,ABCC8:NM_001351297:exon12:c.C1683T:p.H561H	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	8	536	705	273	0	1251	0.538528	.	.	.	167532	Permanent_neonatal_diabetes_mellitus|not_provided|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|Cerebral_edema|not_specified|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:C3661900|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0002181,MONDO:MONDO:0006684,MedGen:C0006114|MedGen:CN169374|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4587	0.429912	0.4311	0.4812	0.3021	0.2844	0.4180	0.4470	0.4546	0.5041	0.426075	65872	154602	rs1799857	0.4459	0.4459	0.4447	0.4471	0.4959	0.4450	0.4446	0.4920	0.4904	0.4747	0.3195	0.4445	0.3087	0.4107	0.4108	0.4535	0.4380	0.4959	0.4417	0.4417	0.4437	0.4395	0.4867	0.4389	0.4377	0.4745	0.4722	0.4801	0.3516	0.3803	0.4438	0.3002	0.4127	0.3537	0.4459	0.4296	0.4867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.414560	0.333333	0.405995	0.438596	0.500000	0.500000	0.393293	0.431298	0.1667	2919.06	34	chr11	17430945	.	G	A	2919.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.52;DP=376;ExcessHet=0.4139;FS=2.237;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.386;SOR=0.554	GT:AD:DP:GQ:PL	0/1:57,64:121:99:1402,0,1308	4	0	2	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	0.5833	18271.9	238	chr11	17474969	.	A	G	18271.9	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-2.112;DP=1356;ExcessHet=6.1542;FS=0.525;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=1.27;SOR=0.66	GT:AD:DP:GQ:PL	1/1:0,218:218:99:6375,653,0	0	1	5	0
chr11	18291681	18291681	C	T	exonic	HPS5	.	nonsynonymous SNV	HPS5:NM_007216:exon15:c.G1859A:p.R620Q,HPS5:NM_181508:exon15:c.G1859A:p.R620Q,HPS5:NM_181507:exon16:c.G2201A:p.R734Q	Hermansky-Pudlak syndrome 5	.	.	.	.	.	.	.	.	.	.	1461335	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.082	0.0172362263528	.	.	3.295e-05	0	0	0	0	5.993e-05	0	0	3.23e-05	5	154602	rs774037351	5.814e-05	5.814e-05	5.173e-05	6.463e-05	0.0002	4.809e-05	4.431e-05	5.797e-05	5.365e-05	0	0	0	0	0	0.0002	7.104e-05	3.312e-05	3.478e-05	3.283e-05	3.281e-05	2.569e-05	4.028e-05	0.0002	1.26e-05	7.97e-06	4.88e-06	1.83e-06	2.406e-05	0	0	0	0	0	0.0034	2.94e-05	0	0.0002	1.0	0.00964	T	0.966	0.02509	T	0.0	0.02946	B	0.001	0.04355	B	0.293834	0.14719	N	0.700616	1	0.08975	N	-1.19	0.00851	N	-0.78	0.73631	T	0.53	0.02808	N	0.132	0.12770	-0.9538	0.40310	T	0.080	0.31735	T	10	0.03172037	0.01311	T	0.017236	0.38857	T	0.082	0.23913	0.23	0.15705	0.441949972293	0.43817	0.05718495047371395	0.05659	0.0577316834944	0.06392	0.268010914326	0.05883	T	0.052583	0.29203	T	-0.372018	0.03494	T	-0.590627	0.13612	T	0.0389152024365699	0.03495	T	0.20078	0.02277	T	0.013736912	0.00068	0.026675934	0.00770	0.013736912	0.00068	0.026675934	0.00770	-2.795	0.09548	T	.	.	0.056	0.00563	B	.;.;.	.;.;.	0.933979	0.13095	9.596	0.13997350357197483	0.00294	0.01563	0.05111	N	AEFGBI	0.028761	0.02595	N	-1.31085285793432	0.03550	0.1587806	-1.12661005269876	0.07195	0.3490739	0.00728670179517482	0.11429	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.56	0.601	0.16708	-0.043000	0.11996	-0.081000	0.12176	-0.108000	0.15293	0.408000	0.26234	0.862000	0.27499	0.586000	0.31041	0.2276:0.3242:0.0:0.4482	4.604	0.11758	640	0.64132	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1212.83	34	chr11	18291681	.	C	T	1212.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.144;DP=280;ExcessHet=0;FS=0.733;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.268;SOR=0.601	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1223,0,1402	5	0	1	0
chr11	22274589	22274589	G	A	exonic	ANO5	.	synonymous SNV	ANO5:NM_001142649:exon20:c.G2253A:p.T751T,ANO5:NM_213599:exon20:c.G2256A:p.T752T	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	21	1464	33	4	0	41	0.0138094	.	.	.	269789	not_specified|Gnathodiaphyseal_dysplasia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L|Miyoshi_muscular_dystrophy_3|ANO5-Related_Muscle_Diseases|not_provided	MedGen:CN169374|MONDO:MONDO:0008151,MedGen:C1833736,OMIM:166260,Orphanet:53697|MONDO:MONDO:0012652,MedGen:C1969785,OMIM:611307,Orphanet:206549|MONDO:MONDO:0013222,MedGen:C2750076,OMIM:613319,Orphanet:399096|MedGen:CN180644|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.00259585	0.0018	0	0.0003	0	0	0.0005	0.0044	0.0108	0.0015977	247	154602	rs144048656	0.0010	0.0010	0.0007	0.0014	0.0113	0.0010	0.0010	0.0107	0.0105	6.014e-05	0.0002	3.879e-05	5.092e-05	0	0.0058	0.0004	0.0012	0.0113	0.0006	0.0006	0.0005	0.0007	0.0118	0.0005	0.0005	0.0093	0.0084	0	0	0.0002	0	0	0	0	0.0005	0.0010	0.0118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.002717	0.000000	0.000000	0.000000	0.003049	0.015152	0.08333	731.83	35	chr11	22274589	.	G	A	731.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.54;DP=238;ExcessHet=0;FS=4.108;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=0.38;SOR=1.405	GT:AD:DP:GQ:PL	0/1:23,27:50:99:742,0,457	5	0	1	0
chr11	31793814	31793814	G	A	intronic	PAX6	.	.	.	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	1	1280	221	20	0	261	0.0925204	0	0	.	254136	not_provided|Aniridia_1|11p_partial_monosomy_syndrome|Anophthalmia-microphthalmia_syndrome|Abnormality_of_refraction|Irido-corneo-trabecular_dysgenesis|carboxymethyl-dextran-A2-gadolinium-DOTA|Autosomal_dominant_keratitis|Foveal_hypoplasia_1|not_specified|Aniridia,_Cerebellar_Ataxia,_And_Intellectual_Disability	MedGen:C3661900|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210,Orphanet:250923|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072,Orphanet:893|MedGen:C5680330,Orphanet:98555|Human_Phenotype_Ontology:HP:0000539,MedGen:C4025843|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|.|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190,Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520,Orphanet:2253|MedGen:CN169374|MedGen:CN239197	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0459	0.0904553	0.0779	0.0398	0.2073	0.1936	0.0554	0.0518	0.0642	0.0660	0.0753354	11647	154602	rs667773	0.0579	0.0580	0.0582	0.0576	0.1929	0.0576	0.0575	0.1895	0.1881	0.0436	0.1929	0.0745	0.1485	0.0520	0.1245	0.0476	0.0709	0.0697	0.0616	0.0617	0.0594	0.0639	0.1929	0.0605	0.0601	0.1829	0.1789	0.0418	0.0055	0.1300	0.0718	0.1929	0.0499	0.1497	0.0492	0.0710	0.0681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3932.83	46	chr11	31793814	.	G	A	3932.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.637;DP=528;ExcessHet=0;FS=2.086;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.264;SOR=0.854	GT:AD:DP:GQ:PL	0/1:169,151:320:99:3943,0,4470	5	0	1	0
chr11	65557854	65557854	-	CAGCAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.105_106insCTGCTG:p.L35_G36insLL,LTBP3:NM_021070:exon1:c.105_106insCTGCTG:p.L35_G36insLL	Dental anomalies and short stature, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	390556	not_specified|Geleophysic_dysplasia_3|Brachyolmia-amelogenesis_imperfecta_syndrome	MedGen:CN169374|MONDO:MONDO:0054722,MedGen:C4540511,OMIM:617809|MONDO:MONDO:0011018,MedGen:C1832594,OMIM:601216,Orphanet:2899	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0517173	0.0922	0.0185	0.0385	0	0.0234	0.1274	0.1071	0.0908	0.0029172	451	154602	rs535365850	0.1577	0.1430	0.1586	0.1569	0.1715	0.1571	0.1569	0.1708	0.1705	0.0412	0.1142	0.1239	0.0536	0.0926	0.1486	0.1715	0.1411	0.0804	0.1243	0.1253	0.1302	0.1180	0.1808	0.1228	0.1222	0.1781	0.1770	0.0497	0.2698	0.1236	0.1428	0.0282	0.0948	0.2063	0.1808	0.1207	0.0933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1030.69	34	chr11	65557854	.	C	CCAGCAG	1030.69	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.199;DP=210;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=27.86;ReadPosRankSum=-0.592;SOR=0.651	GT:AD:DP:GQ:PL	1/0:0,15:18:71:824,123,71	4	0	2	0
chr11	89178528	89178528	C	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon1:c.C575A:p.S192Y	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	0	682	633	207	0	1047	0.43426	.	.	YES	18817	Oculocutaneous_albinism|not_provided|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Oculocutaneous_albinism_type_1A|Oculocutaneous_albinism_type_1B|not_specified|Albinism_or_congenital_nystagmus	MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55|MedGen:C3661900|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.355	.	0.2748	0.123403	0.2518	0.0620	0.1918	0.0008	0.1818	0.3663	0.2907	0.1085	0.261019	40354	154602	rs1042602	0.3220	0.3220	0.3252	0.3188	0.3670	0.3213	0.3209	0.3661	0.3657	0.0507	0.2157	0.4485	0.0009	0.1815	0.3226	0.3670	0.3000	0.1142	0.2419	0.2419	0.2523	0.2311	0.3651	0.2398	0.2390	0.3613	0.3597	0.0668	0.3425	0.2714	0.4547	0.0023	0.1828	0.4048	0.3651	0.3011	0.0986	0.031	0.45039	D	0.003	0.76473	D	0.997	0.70673	D	0.974	0.73157	D	0.000008	0.62929	D	0.065875	0.999508	0.21084	P	1.845	0.48678	L	-5.1	0.98700	D	-2.79	0.59059	D	0.382	0.42345	-1.7843	0.00000	T	0.000	0.00039	T	8	0.0053822994	0.00118	T	.	.	.	0.355	0.67600	.	.	.	.	0.6892773878264551	0.68867	0.0688238525608	0.07705	0.439628481865	0.30526	T	0.88496	0.97618	D	-0.260349	0.12860	T	-0.00292912	0.70146	D	0.0152115171034676	0.00334	T	0.744526	0.36463	T	0.16305736	0.36423	0.21538205	0.46125	0.19196893	0.40846	0.22641657	0.47618	-9.607	0.71523	D	0.3624652220777897	0.45877	0.135	0.29228	B	.	.	4.082595	0.60747	24.3	0.99333304920791965	0.59856	0.86225	0.45465	D	AEFBI	0.785702	0.71601	D	0.494697286576891	0.66780	4.99452	0.417875167062087	0.62678	4.48737	0.993650488775012	0.33302	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	4.505000	0.60141	5.876000	0.50589	0.599000	0.40250	0.420000	0.26330	1.000000	0.68203	0.864000	0.41028	0.1393:0.8607:0.0:0.0	15.385	0.74410	864	0.32732	Tyrosinase copper-binding domain	CBX3P7|CTSC	Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs1042602	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	0.325780	0.454545	0.342391	0.146199	0.200000	0.310345	0.426829	0.234848	0.4167	14677.5	210	chr11	89178528	.	C	A	14677.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.939;DP=919;ExcessHet=0.7136;FS=0;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=17.86;ReadPosRankSum=0.757;SOR=0.679	GT:AD:DP:GQ:PL	0/1:98,74:172:99:1873,0,2688	2	1	3	0
chr11	95835367	95835367	A	G	exonic	MTMR2	.	nonsynonymous SNV	MTMR2:NM_016156:exon15:c.T1855C:p.S619P,MTMR2:NM_201281:exon16:c.T1639C:p.S547P,MTMR2:NM_201278:exon17:c.T1639C:p.S547P,MTMR2:NM_001243571:exon18:c.T1639C:p.S547P	Charcot-Marie-Tooth disease, type 4B1, Autosomal recessive	1	1477	40	4	0	48	0.0159893	.	.	.	231812	MTMR2-related_disorder|Charcot-Marie-Tooth_disease_type_4B1|not_provided|Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease_type_4	.|MONDO:MONDO:0011066,MedGen:C1832399,OMIM:601382,Orphanet:99955|MedGen:C3661900|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.372	.	0.0016	0.00399361	0.0030	9.634e-05	0.0011	0	0.0017	0.0026	0.0022	0.0101	0.0029301	453	154602	rs116750638	0.0021	0.0021	0.0018	0.0025	0.0098	0.0021	0.0020	0.0093	0.0091	0.0002	0.0013	0.0033	5.039e-05	0.0021	0.0059	0.0016	0.0024	0.0098	0.0020	0.0020	0.0020	0.0021	0.0133	0.0018	0.0018	0.0107	0.0097	0.0004	0	0.0020	0.0055	0.0002	0.0008	0.0102	0.0024	0.0009	0.0133	0.069	0.35537	T	0.248	0.23845	T	0.002	0.09854	B	0.002	0.06944	B	0.000091	0.51296	D	0.202843	0.998256	0.48079	D	1.67	0.42885	L	-3.63	0.95984	D	-2.28	0.50830	N	0.125	0.13769	0.193	0.85786	D	0.736	0.90983	D	10	0.0077272058	0.00175	T	.	.	.	0.372	0.69102	.	.	0.944764497742	0.94418	0.5595205592317944	0.55879	0.467842068209	0.46150	0.568110406399	0.48410	T	0.491021	0.81557	T	-0.17215	0.24910	T	-0.0122396	0.69539	D	0.0243959395278633	0.01194	T	0.907509	0.67274	D	0.33594596	0.55954	0.4682053	0.69152	0.28237277	0.51275	0.46881017	0.69190	-6.111	0.48824	T	.	.	0.319	0.58197	B	.;.;.;.;.	.;.;.;.;.	3.875525	0.56290	23.7	0.99573003205197541	0.72501	0.89537	0.50064	D	AEFBI	0.462859	0.51202	N	-0.0352593490406058	0.40263	2.388136	0.162877497370997	0.47829	3.007267	0.99999953904504	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	6.17	6.17	0.99707	1.278000	0.32784	6.912000	0.56902	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.652:0.122:0.0:0.226	7.011	0.24042	909	0.22467	.;.;.;.;.	.	.	.	.	.	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	0.004532	0.000000	0.002717	0.000000	0.050000	0.000000	0.009146	0.011364	0.08333	798.83	38	chr11	95835367	.	A	G	798.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.74;DP=215;ExcessHet=0;FS=2.749;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.02;ReadPosRankSum=0.959;SOR=0.493	GT:AD:DP:GQ:PL	0/1:15,27:42:99:809,0,360	5	0	1	0
chr12	6018369	6018369	T	G	exonic	VWF	.	synonymous SNV	VWF:NM_000552:exon28:c.A5049C:p.A1683A	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	0	780	740	2	0	744	0.322917	.	.	.	266166	not_provided|not_specified|von_Willebrand_disease_type_2|Hereditary_von_Willebrand_disease|von_Willebrand_disease_type_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022509	348	154602	rs79275181	0.0541	0.1753	0.0514	0.0568	0.1039	0.0537	0.0535	0.0948	0.0912	0.0354	0.0602	0.0362	0.0427	0.0518	0.1039	0.0556	0.0445	0.0580	0.0156	0.0580	0.0139	0.0174	0.0276	0.0150	0.0148	0.0233	0.0217	0.0133	0.0179	0.0169	0.0164	0.0276	0.0176	0	0.0152	0.0178	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.3333	798.23	32	chr12	6018369	.	T	G	798.23	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.955;DP=257;ExcessHet=3.1439;FS=14.048;MLEAC=4;MLEAF=0.333;MQ=55.31;MQRankSum=-6.059;QD=4.59;ReadPosRankSum=1.3;SOR=0.242	GT:AD:DP:GQ:PL	0/1:25,19:44:99:357,0,652	2	0	4	0
chr12	7190513	7190557	GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	-	exonic	PEX5	.	nonframeshift deletion	PEX5:NM_001374647:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374648:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374649:exon1:c.136_147del:p.E48_S51del,PEX5:NM_000319:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131023:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001131024:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131025:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001300789:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351124:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351126:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351128:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351130:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351131:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351132:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351134:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351135:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351136:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351137:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351138:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351139:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374645:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374646:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131026:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351127:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351133:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351140:exon3:c.136_147del:p.E48_S51del	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	0	177	7	42	0	91	0.204494	.	.	.	778118	Peroxisome_biogenesis_disorder_2B|Rhizomelic_chondrodysplasia_punctata_type_5|not_specified|Peroxisome_biogenesis_disorder_2A_(Zellweger)|not_provided	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716,Orphanet:468717|MedGen:CN169374|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110,Orphanet:912|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	4.268e-05	0.0004	0	0	0	1.945e-05	0	0	3.84e-05	1	26028	rs757612863	0.2520	0.2523	0.2418	0.2624	0.7201	0.2513	0.2511	0.7131	0.7102	0.2717	0.3801	0.4508	0.7201	0.5171	0.2871	0.1987	0.3556	0.3579	0.5401	0.6749	0.5600	0.5186	0.6619	0.5362	0.5345	0.6379	0.6282	0.4367	0.4674	0.5855	0.6481	0.6619	0.4898	0.5586	0.6009	0.5226	0.2956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9167	3196.01	20	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	3196.01	.	AC=11;AF=0.917;AN=12;BaseQRankSum=1.49;DP=279;ExcessHet=0;FS=1.571;MLEAC=11;MLEAF=0.917;MQ=59.26;MQRankSum=-0.836;QD=26.7;ReadPosRankSum=-0.05;SOR=1.134	GT:AD:DP:GQ:PL	1/1:0,9:9:35:415,35,0	0	5	1	0
chr12	8604926	8604926	-	AA	intronic	AICDA	.	.	.	Immunodeficiency with hyper-IgM, type 2, Autosomal recessive	533	144	331	418	96	1263	0.802062	.	.	.	332949	Hyper-IgM_syndrome_type_2|not_provided|Hyperimmunoglobulin_M_syndrome	MONDO:MONDO:0011528,MedGen:C1720956,OMIM:605258,Orphanet:101089|MedGen:C3661900|MONDO:MONDO:0003947,MedGen:C0272236,OMIM:PS308230	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0927	.	0.0609	0.0246	0.1102	0.0415	0.0617	0.0541	0.0714	0.0834	0.0003074	8	26028	rs5796316	0.1025	0.1775	0.1048	0.1003	0.1307	0.1020	0.1018	0.1273	0.1260	0.0421	0.1307	0.1048	0.0868	0.0995	0.1003	0.1067	0.1019	0.0733	0.0173	0.0193	0.0163	0.0183	0.0545	0.0167	0.0164	0.0513	0.0500	0.0078	0.0022	0.0545	0.0263	0.0023	0.0246	0.0184	0.0148	0.0151	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2650.43	27	chr12	8604926	.	C	CAA	2650.43	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.42;DP=164;ExcessHet=0.4139;FS=1.132;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=20.55;ReadPosRankSum=0.116;SOR=0.896	GT:AD:DP:GQ:PL	0/1:0,5:20:49:495,345,330	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2521.25	35	chr12	21174718	.	T	TA	2521.25	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.503;DP=258;ExcessHet=3.1439;FS=0.717;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=1.24;SOR=0.577	GT:AD:DP:GQ:PL	0/1:11,12:25:99:244,0,210	0	0	6	0
chr12	47845054	47845054	C	A	intronic	VDR	.	.	.	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	84	358	570	510	0	1590	0.689506	.	.	.	1242175	Hepatocellular_carcinoma|not_provided|Vitamin_D-dependent_rickets_type_II_with_alopecia|Periodontitis	Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C3661900|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160|Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5622	0.515375	0.5187	0.6234	0.3909	0.2778	0.5489	0.5375	0.5256	0.5796	0.50879	78660	154602	rs7975232	0.5254	0.5252	0.5231	0.5277	0.6365	0.5244	0.5240	0.6294	0.6264	0.6365	0.4233	0.5667	0.3056	0.5525	0.6244	0.5274	0.5314	0.5759	0.5491	0.5493	0.5492	0.5489	0.6267	0.5459	0.5446	0.6203	0.6176	0.6267	0.5894	0.5041	0.5828	0.2901	0.5503	0.5548	0.5281	0.5518	0.5587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1043.84	21	chr12	47845054	.	C	A	1043.84	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-0.566;DP=65;ExcessHet=1.181;FS=0;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.72;ReadPosRankSum=-0.816;SOR=0.99	GT:AD:DP:GQ:PL	0/1:2,3:5:70:98,0,70	1	1	3	1
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	0.75	7656.7	75	chr12	47879112	.	A	G	7656.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=0.522;DP=384;ExcessHet=1.383;FS=0;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=20.69;ReadPosRankSum=-0.318;SOR=0.718	GT:AD:DP:GQ:PL	0/1:28,30:58:99:779,0,685	0	3	3	0
chr12	76346369	76346369	G	A	exonic	BBS10	.	nonsynonymous SNV	BBS10:NM_024685:exon2:c.C1616T:p.P539L	Bardet-Biedl syndrome 10, Autosomal recessive	4	1146	322	50	0	422	0.15549	.	.	.	177141	Bardet-Biedl_syndrome|not_specified|not_provided|Bardet-Biedl_syndrome_10	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.124	.	0.0551	0.0335463	0.0647	0.0125	0.0371	0.0001	0.0635	0.0792	0.0762	0.0918	0.0598699	9256	154602	rs35676114	0.0746	0.0746	0.0731	0.0761	0.1413	0.0742	0.0741	0.1333	0.1300	0.0125	0.0384	0.0794	0.0005	0.0596	0.1413	0.0791	0.0763	0.0957	0.0555	0.0556	0.0554	0.0557	0.0914	0.0545	0.0541	0.0844	0.0816	0.0144	0.0757	0.0501	0.0801	0.0004	0.0662	0.1156	0.0799	0.0602	0.0914	0.453	0.08917	T	0.369	0.16522	T	0.001	0.07471	B	0.0	0.01387	B	0.787526	0.09423	N	0.883658	1	0.08975	N	0.03	0.08032	N	-1.87	0.84415	D	-1.63	0.39119	N	0.033	0.00882	-0.9391	0.42759	T	0.062	0.25923	T	10	0.0018639565	0.00025	T	.	.	.	0.124	0.34239	.	.	.	.	0.2679530290946429	0.26708	0.0586897436536	0.06515	0.213595598936	0.00973	T	0.322653	0.69364	T	-0.575935	0.00204	T	-0.528887	0.19398	T	0.00279913554226781	0.00029	T	0.450755	0.12737	T	0.025135	0.01417	0.038665097	0.03786	0.0298414	0.02545	0.040621962	0.04432	-3.808	0.20924	T	0.09762239229038064	0.06889	0.08	0.07793	B	.;.	.;.	-0.019470	0.04151	0.994	0.61837539723277835	0.06809	0.05604	0.11509	N	AEFDBCIJ	0.043003	0.06745	N	-0.895660138183266	0.10945	0.5256198	-0.942612549275817	0.11094	0.5631424	0.999917383432791	0.45857	0.706298	0.61202	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.95	0.792	0.17769	0.305000	0.19006	1.034000	0.23503	0.676000	0.76740	0.000000	0.06391	0.338000	0.24408	0.027000	0.12703	0.4803:0.0:0.5197:0.0	8.240	0.30816	953	0.10115	.;.	BBS10|BBS10|BBS10|OSBPL8	Cells_Cultured_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs35676114	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.123867	0.070707	0.126359	0.160819	0.050000	0.137931	0.131098	0.128788	0.08333	1011.83	34	chr12	76346369	.	G	A	1011.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.197;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-0.884;SOR=0.705	GT:AD:DP:GQ:PL	0/1:51,41:92:99:1022,0,1312	5	0	1	0
chr12	120978819	120978819	C	G	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon1:c.C51G:p.L17L,HNF1A:NM_001306179:exon1:c.C51G:p.L17L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	2	270	714	536	0	1786	0.767842	.	.	YES	134680	not_provided|Maturity-onset_diabetes_of_the_young_type_3|not_specified|Type_2_diabetes_mellitus|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4175	0.428514	0.4722	0.3467	0.4430	0.3969	0.4887	0.4772	0.5226	0.5739	0.0001537	4	26028	rs1169289	0.4566	0.4566	0.4516	0.4616	0.6297	0.4557	0.4553	0.6126	0.6057	0.3411	0.4475	0.5840	0.4311	0.4803	0.6297	0.4472	0.4625	0.5707	0.4301	0.4302	0.4244	0.4360	0.5691	0.4273	0.4262	0.5513	0.5441	0.3324	0.4382	0.4585	0.5786	0.3892	0.4991	0.6293	0.4561	0.4691	0.5691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.600505	0.586735	0.589674	0.664706	0.400000	0.646552	0.592025	0.595420	0.6667	7616.62	100	chr12	120978819	.	C	G	7616.62	.	AC=8;AF=0.667;AN=12;BaseQRankSum=2.53;DP=356;ExcessHet=0.1336;FS=0;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=24.18;ReadPosRankSum=0.708;SOR=0.671	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1597,135,0	1	3	2	0
chr12	120997672	120997672	G	A	intronic	HNF1A	.	.	.	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	1	363	726	432	0	1590	0.686528	0	0.002	.	134677	Maturity_onset_diabetes_mellitus_in_young|not_specified|Maturity-onset_diabetes_of_the_young_type_3|not_provided|Type_2_diabetes_mellitus|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	.	0.2901	0.359625	0.4347	0.1738	0.4572	0.5290	0.4292	0.4231	0.4803	0.5441	0.362634	56064	154602	rs2464195	0.3682	0.3688	0.3624	0.3741	0.5530	0.3674	0.3670	0.5370	0.5305	0.1357	0.4026	0.5062	0.5242	0.3648	0.5530	0.3524	0.3779	0.5169	0.3174	0.3175	0.3086	0.3265	0.5133	0.3150	0.3140	0.4964	0.4896	0.1444	0.3786	0.3918	0.5026	0.4905	0.3844	0.5748	0.3557	0.3706	0.5133	.	.	.	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.047	0.01911	-1.0274	0.21299	T	0.000	0.00011	T	6	2.2227126e-05	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234108	0.60106	T	-0.915089	0.00000	T	-0.943419	0.00283	T	0.0192097227377621	0.00628	T	0.430157	0.11673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.	.	-0.772248	0.01163	0.055	0.57032435668430348	0.05680	0.00885	0.03488	N	AEFDBI	0.146919	0.27048	N	-1.81151059978301	0.00518	0.02228144	-2.09924087502019	0.00187	0.008236552	0.999998004955925	0.74766	0.038988	0.00246	2	0.037452	0.00068	0	0.059349	0.00372	0	0.058706	0.01089	0	.	.	4.49	-8.98	0.00647	-2.145000	0.01382	-2.922000	0.03227	-2.782000	0.00189	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1271:0.2749:0.598:0.0	13.207	0.59229	373	0.84140	.	C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs2464195	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.6667	15878.6	128	chr12	120997672	.	G	A	15878.6	.	AC=8;AF=0.667;AN=12;BaseQRankSum=1.05;DP=694;ExcessHet=0.1336;FS=1.426;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=24.58;ReadPosRankSum=1.25;SOR=0.665	GT:AD:DP:GQ:PL	1/1:0,119:119:99:3721,357,0	1	3	2	0
chr12	131941887	131941887	C	T	exonic	PUS1	.	synonymous SNV	PUS1:NM_001002019:exon5:c.C1056T:p.T352T,PUS1:NM_001002020:exon5:c.C1056T:p.T352T,PUS1:NM_025215:exon5:c.C1140T:p.T380T	Myopathy, lactic acidosis, and sideroblastic anemia 1, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	211596	Myopathy,_lactic_acidosis,_and_sideroblastic_anemia_1|not_specified|not_provided	MONDO:MONDO:0024553,MedGen:C4551958,OMIM:600462,Orphanet:2598|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0008	0.000399361	0.0012	0.0005	0.0020	0.0002	0	0.0015	0.0034	0.0011	0.0012742	197	154602	rs138198591	0.0011	0.0011	0.0010	0.0012	0.0154	0.0010	0.0010	0.0128	0.0119	0.0024	0.0022	0.0010	5.038e-05	9.469e-05	0.0154	0.0010	0.0026	0.0007	0.0011	0.0011	0.0009	0.0012	0.0029	0.0009	0.0009	0.0023	0.0020	0.0007	0	0.0029	0	0.0008	0	0.0476	0.0009	0.0038	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	0.019134	0.025253	0.028533	0.032164	0.000000	0.008621	0.003049	0.003788	0.08333	1071.83	36	chr12	131941887	.	C	T	1071.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.959;DP=276;ExcessHet=0;FS=2.687;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-1.777;SOR=1.064	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1082,0,1274	5	0	1	0
chr13	23335003	23335003	T	C	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon8:c.A8432G:p.K2811R,SACS:NM_014363:exon10:c.A8873G:p.K2958R	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	1	1516	5	0	0	5	0.00164636	.	.	YES	190874	Hereditary_spastic_paraplegia|Charlevoix-Saguenay_spastic_ataxia|Spastic_paraplegia|not_specified|not_provided	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.327	.	0.0255	0.0213658	0.0074	0.0805	0.0030	0	0	0.0004	0.0077	0	0.0070956	1097	154602	rs11839380	0.0023	0.0023	0.0025	0.0020	0.0787	0.0022	0.0022	0.0762	0.0751	0.0787	0.0042	3.829e-05	0	7.49e-05	0.0036	0.0002	0.0046	0.0001	0.0229	0.0229	0.0237	0.0221	0.0794	0.0223	0.0220	0.0772	0.0763	0.0794	0	0.0078	0	0	0	0.0068	0.0003	0.0213	0	0.823	0.06086	T	0.0	0.92824	D	0.993	0.65571	D	0.953	0.69275	D	0.000000	0.84330	D	0.000000	0.111473	0.35901	P	2.31	0.66127	M	-2.45	0.88847	D	-0.96	0.25551	N	0.343	0.38438	-0.3814	0.72608	T	0.106	0.38611	T	9	0.0077159405	0.00175	T	.	.	.	0.327	0.64926	.	.	0.884755322357	0.88362	0.5150298171815303	0.51425	.	.	0.635103464127	0.57869	T	0.197336	0.55399	T	-0.406979	0.02082	T	-0.298193	0.44915	T	0.045413699527167	0.04677	T	0.876112	0.58827	D	0.103235714	0.24400	0.15952113	0.37200	0.101481654	0.23971	0.12358823	0.29799	-2.954	0.09694	T	0.3345514138163916	0.43250	0.093	0.13923	B	.;.	.;.	3.657148	0.51934	23.2	0.99896364920954916	0.96895	0.90900	0.52474	D	AEFBCI	0.595888	0.59026	D	0.473304353392615	0.65537	4.834948	0.525700178718149	0.69726	5.401547	0.999999991087717	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.950000	0.69982	7.925000	0.74723	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0738:0.0:0.9262	10.240	0.42483	987	0.02648	.;.	.	.	.	.	.	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	0.013092	0.015152	0.021739	0.017544	0.000000	0.008621	0.000000	0.000000	0.08333	1258.83	34	chr13	23335003	.	T	C	1258.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.323;DP=441;ExcessHet=0;FS=0.687;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=1.03;SOR=0.659	GT:AD:DP:GQ:PL	0/1:73,49:122:99:1269,0,1988	5	0	1	0
chr14	92071009	92071009	-	G	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.68_69insC:p.P25Tfs*24,ATXN3:NM_001164774:exon3:c.233_234insC:p.P80Tfs*24,ATXN3:NM_001164777:exon3:c.113_114insC:p.P40Tfs*24,ATXN3:NM_001164776:exon4:c.278_279insC:p.P95Tfs*24,ATXN3:NM_001164778:exon6:c.431_432insC:p.P146Tfs*24,ATXN3:NM_001164779:exon6:c.553_554insC:p.G185Afs*12,ATXN3:NM_001164780:exon7:c.379_380insC:p.G127Afs*12,ATXN3:NM_001127697:exon8:c.763_764insC:p.G255Afs*12,ATXN3:NM_001164781:exon8:c.706_707insC:p.G236Afs*12,ATXN3:NM_001127696:exon9:c.871_872insC:p.G291Afs*12,ATXN3:NM_030660:exon9:c.751_752insC:p.G251Afs*12,ATXN3:NM_004993:exon10:c.916_917insC:p.G306Afs*12	Machado-Joseph disease, Autosomal dominant	98	926	380	118	0	616	0.249595	.	.	.	390136	ATXN3-related_disorder|Azorean_disease|not_specified|not_provided	.|MONDO:MONDO:0007182,MedGen:C0024408,OMIM:109150,Orphanet:98757|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3624	0.1685	0.3080	0.2350	0.3289	0.3820	0.3723	0.5076	0.0120639	314	26028	rs763461489	0.3602	0.2726	0.3598	0.3606	0.4269	0.3591	0.3586	0.4211	0.4187	0.2335	0.2356	0.4259	0.4269	0.3289	0.3968	0.3614	0.3556	0.3795	0.4786	0.4687	0.4802	0.4770	0.5397	0.4742	0.4724	0.5165	0.5072	0.4754	0.5068	0.4371	0.5341	0.4620	0.4534	0.4936	0.4840	0.4802	0.5397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5211.8	50	chr14	92071009	.	C	CG	5211.8	.	AC=5;AF=0.5;AN=10;BaseQRankSum=0.332;DP=351;ExcessHet=0.7136;FS=1.881;MLEAC=5;MLEAF=0.5;MQ=59.52;MQRankSum=-1.431;QD=24.13;ReadPosRankSum=-0.931;SOR=0.865	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2626,194,0	1	1	3	1
chr14	92071010	92071010	-	TGCTGCTGCTGCTGCTG	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCA:p.G23Afs*63,ATXN3:NM_001164774:exon3:c.232_233insCAGCAGCAGCAGCAGCA:p.G78Afs*63,ATXN3:NM_001164777:exon3:c.112_113insCAGCAGCAGCAGCAGCA:p.G38Afs*63,ATXN3:NM_001164776:exon4:c.277_278insCAGCAGCAGCAGCAGCA:p.G93Afs*63,ATXN3:NM_001164778:exon6:c.430_431insCAGCAGCAGCAGCAGCA:p.G144Afs*63,ATXN3:NM_001164779:exon6:c.552_553insCAGCAGCAGCAGCAGCA:p.G185Qfs*31,ATXN3:NM_001164780:exon7:c.378_379insCAGCAGCAGCAGCAGCA:p.G127Qfs*31,ATXN3:NM_001127697:exon8:c.762_763insCAGCAGCAGCAGCAGCA:p.G255Qfs*31,ATXN3:NM_001164781:exon8:c.705_706insCAGCAGCAGCAGCAGCA:p.G236Qfs*31,ATXN3:NM_001127696:exon9:c.870_871insCAGCAGCAGCAGCAGCA:p.G291Qfs*31,ATXN3:NM_030660:exon9:c.750_751insCAGCAGCAGCAGCAGCA:p.G251Qfs*31,ATXN3:NM_004993:exon10:c.915_916insCAGCAGCAGCAGCAGCA:p.G306Qfs*31	Machado-Joseph disease, Autosomal dominant	2	38	11	3	172	189	0.182796	.	.	.	1038299	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005175	80	154602	rs763541221	0.0633	0.0652	0.0641	0.0625	0.0704	0.0630	0.0628	0.0699	0.0698	0.0104	0.0224	0.0489	0.0433	0.0343	0.0394	0.0704	0.0538	0.0546	0.0404	0.0391	0.0421	0.0386	0.0581	0.0395	0.0391	0.0566	0.0560	0.0119	0.0580	0.0269	0.0522	0.0348	0.0360	0.0355	0.0581	0.0459	0.0527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	8092.51	47	chr14	92071010	.	C	CTGCTGCTGCTGCTGCTG	8092.51	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.34;DP=353;ExcessHet=0;FS=5.991;MLEAC=1;MLEAF=0.083;MQ=59.47;MQRankSum=-1.307;QD=31.58;ReadPosRankSum=-0.975;SOR=1.535	GT:AD:DP:GQ:PL	0/1:0,18:31:99:2413,684,535	5	0	1	0
chr14	105384439	105384439	A	G	exonic	PACS2	.	nonsynonymous SNV	PACS2:NM_001100913:exon17:c.A1867G:p.N623D,PACS2:NM_001243127:exon17:c.A1630G:p.N544D,PACS2:NM_015197:exon17:c.A1855G:p.N619D	.	406	1115	1	0	0	1	0.000448229	.	.	.	1487833	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.081	0.0136879277412	.	.	2.705e-05	0	9.256e-05	0	0	3.269e-05	0	0	1.94e-05	3	154602	rs782192283	6.167e-06	6.156e-06	2.727e-06	9.641e-06	6.712e-05	2.9e-06	2.1e-06	1.78e-05	8.93e-06	0	6.712e-05	0	0	0	0	4.499e-06	1.657e-05	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.28	0.15509	T	0.639	0.07617	T	0.459	0.36338	P	0.122	0.32387	B	0.008500	0.30815	N	0.364292	0.866946	0.35491	D	0.73	0.18813	N	1.09	0.39223	T	-1.26	0.32185	N	0.385	0.44283	-1.0316	0.19937	T	0.043	0.18326	T	10	0.19423854	0.35226	T	0.013688	0.33283	T	0.081	0.23632	0.528	0.63412	0.343804874344	0.33996	0.17998056246027572	0.17917	.	.	0.516947865486	0.41196	T	0.052532	0.29189	T	-0.420304	0.01703	T	-0.643871	0.09390	T	0.260347694158554	0.23330	T	0.886911	0.61435	D	0.095382415	0.22446	0.09587724	0.22758	0.095382415	0.22446	0.09587724	0.22757	-9.287	0.70542	D	0.08508765298003712	0.04764	0.144	0.41708	B	.;.;.;.	.;.;.;.	3.562651	0.50139	22.9	0.97690467039268603	0.35370	0.86942	0.46339	D	AEFBI	0.290254	0.40168	N	-0.383652048306168	0.26051	1.418832	-0.210759621954468	0.31148	1.760107	0.794980204088583	0.24083	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.44	4.44	0.53164	3.183000	0.50619	5.871000	0.50535	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.468000	0.28296	0.8256:0.0:0.0:0.1744	8.429	0.31905	976	0.04745	.;.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	658.83	34	chr14	105384439	.	A	G	658.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.3;DP=240;ExcessHet=0;FS=5.001;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-1.466;SOR=0.96	GT:AD:DP:GQ:PL	0/1:31,29:60:99:669,0,721	5	0	1	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	18492.6	99	chr15	59256276	.	C	T	18492.6	.	AC=12;AF=1;AN=12;DP=654;ExcessHet=0;FS=0;MLEAC=12;MLEAF=1;MQ=60;QD=28.49;SOR=0.998	GT:AD:DP:GQ:PL	1/1:0,105:105:99:2876,314,0	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1472.76	5	chr15	68207979	.	G	GAC	1472.76	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.045;DP=46;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=22.1;ReadPosRankSum=1.61;SOR=1.329	GT:AD:DP:GQ:PL	0/1:2,5:9:61:150,0,61	2	0	4	0
chr15	82538982	82538982	A	G	exonic	RPS17	.	synonymous SNV	RPS17:NM_001021:exon3:c.T159C:p.Y53Y	Diamond-Blackfan anemia 4, Autosomal dominant	21	707	596	198	0	992	0.412303	.	.	YES	409353	Diamond-Blackfan_anemia|not_specified	Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs6991	0.3098	0.3099	0.3048	0.3149	0.4205	0.3091	0.3088	0.4169	0.4154	0.1579	0.1629	0.3116	0.2790	0.3769	0.3362	0.3093	0.3116	0.4205	0.2641	0.2643	0.2614	0.2669	0.4165	0.2619	0.2610	0.4013	0.3951	0.1651	0.3936	0.2043	0.2966	0.2364	0.3693	0.3605	0.3087	0.2768	0.4165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	6869.51	33	chr15	82538982	.	A	G	6869.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.642;DP=390;ExcessHet=0.095;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.88;ReadPosRankSum=1.34;SOR=0.668	GT:AD:DP:GQ:PL	0/1:28,41:69:99:922,0,700	2	2	2	0
chr15	89319006	89319006	C	T	exonic	POLG	.	synonymous SNV	POLG:NM_001126131:exon20:c.G3198A:p.T1066T,POLG:NM_002693:exon20:c.G3198A:p.T1066T	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	0	1462	57	3	0	63	0.0210914	.	.	.	142459	not_provided|Hereditary_spastic_paraplegia|POLG-Related_Spectrum_Disorders|Progressive_sclerosing_poliodystrophy|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0062	0.00579073	0.0063	0.0018	0.0038	0.0002	0.0041	0.0066	0.0033	0.0138	0.0062418	965	154602	rs61752780	0.0074	0.0074	0.0073	0.0075	0.0130	0.0073	0.0072	0.0124	0.0122	0.0015	0.0035	0.0019	0.0002	0.0035	0.0055	0.0079	0.0073	0.0130	0.0049	0.0049	0.0050	0.0048	0.0108	0.0046	0.0045	0.0085	0.0076	0.0013	0	0.0031	0.0009	0.0002	0.0036	0.0102	0.0079	0.0061	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.006042	0.000000	0.005435	0.002924	0.000000	0.008621	0.003049	0.022727	0.08333	1635.83	34	chr15	89319006	.	C	T	1635.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.376;DP=305;ExcessHet=0;FS=4.321;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.9;SOR=1.07	GT:AD:DP:GQ:PL	0/1:60,65:125:99:1646,0,1422	5	0	1	0
chr16	2295736	2295736	G	A	exonic	ABCA3	.	synonymous SNV	ABCA3:NM_001089:exon18:c.C2268T:p.A756A	Surfactant metabolism dysfunction, pulmonary, 3, Autosomal recessive	1	1491	30	0	0	30	0.00996016	.	.	.	324659	Hereditary_pulmonary_alveolar_proteinosis|not_provided|Interstitial_lung_disease_due_to_ABCA3_deficiency	MONDO:MONDO:0012580,MedGen:C3711368,OMIM:PS265120,Orphanet:264675|MedGen:C3661900|MONDO:MONDO:0012582,MedGen:C1970456,OMIM:610921,Orphanet:440402	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0015	0.000599042	0.0016	0.0004	0.0015	0	0	0.0022	0.0055	0.0017	0.0016106	249	154602	rs143552557	0.0014	0.0014	0.0014	0.0015	0.0076	0.0014	0.0014	0.0058	0.0052	0.0002	0.0022	0.0078	2.519e-05	0.0002	0.0076	0.0014	0.0019	0.0012	0.0016	0.0016	0.0015	0.0017	0.0046	0.0014	0.0014	0.0038	0.0035	0.0003	0.0033	0.0046	0.0109	0	9.413e-05	0.0034	0.0015	0.0028	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.006546	0.005051	0.001359	0.005848	0.000000	0.017241	0.003049	0.007576	0.1667	1839.04	33	chr16	2295736	.	G	A	1839.04	.	AC=2;AF=0.167;AN=12;DP=239;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.15;SOR=0.793	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1859,183,0	5	1	0	0
chr16	15677872	15677872	C	G	exonic	NDE1	.	synonymous SNV	NDE1:NM_017668:exon4:c.C309G:p.T103T,NDE1:NM_001143979:exon5:c.C309G:p.T103T	Lissencephaly 4 (with microcephaly), Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	340683	not_provided|NDE1-related_disorder|Lissencephaly_4	MedGen:C3661900|.|MONDO:MONDO:0013527,MedGen:C3151461,OMIM:614019,Orphanet:1083	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000199681	0.0004	0	0.0003	0	0	0.0002	0	0.0022	0.0003752	58	154602	rs376548563	0.0002	0.0002	0.0002	0.0003	0.0022	0.0002	0.0002	0.0019	0.0018	0	0.0002	0.0009	0	0	0.0016	8.093e-05	0.0003	0.0022	0.0002	0.0002	0.0002	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	0	0	0.0001	0.0012	0	0	0	0.0002	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1667	3157.04	39	chr16	15677872	.	C	G	3157.04	.	AC=2;AF=0.167;AN=12;DP=293;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.26;SOR=1.247	GT:AD:DP:GQ:PL	1/1:0,101:101:99:3177,303,0	5	1	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	617.23	110	chr16	15725134	.	T	TA	617.23	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.582;DP=661;ExcessHet=3.1439;FS=1.266;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.07;ReadPosRankSum=-0.038;SOR=0.572	GT:AD:DP:GQ:PL	0/1:17,23:42:99:438,0,283	2	0	4	0
chr16	15725150	15725150	C	A	UTR3	NDE1	NM_001143979:c.*899C>A;NM_017668:c.*899C>A	.	.	Lissencephaly 4 (with microcephaly), Autosomal recessive	154	1238	45	15	70	145	0.0294002	.	.	.	324455	not_provided|Lissencephaly,_Recessive|Aortic_aneurysm,_familial_thoracic_4|Lissencephaly_4	MedGen:C3661900|MedGen:CN239458|MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900|MONDO:MONDO:0013527,MedGen:C3151461,OMIM:614019,Orphanet:1083	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.140974	.	.	.	.	.	.	.	.	0.000461	12	26028	rs79015533	0.0957	0.0667	0.0953	0.0961	0.1452	0.0949	0.0945	0.1390	0.1365	0.1452	0.0530	0.0887	0.0802	0.0853	0.0694	0.0990	0.1044	0.0956	0.1110	0.1127	0.1142	0.1077	0.1506	0.1096	0.1090	0.1473	0.1459	0.1506	0.1333	0.0728	0.0914	0.0828	0.0719	0.0863	0.1073	0.1103	0.0984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	2107.6	132	chr16	15725150	.	C	A	2107.6	.	AC=2;AF=0.2;AN=10;DP=463;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=32.42;SOR=1.312	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2125,195,0	4	1	0	1
chr16	23445970	23445970	A	-	intronic	COG7	.	.	.	Congenital disorder of glycosylation, type IIe	.	.	.	.	.	.	.	.	.	.	334369	not_provided|Congenital_disorder_of_glycosylation|COG7_congenital_disorder_of_glycosylation	MedGen:C3661900|MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137|MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3899	0.3803	0.3566	0.3682	0.4249	0.3932	0.3811	0.3995	0.0002587	40	154602	rs71379679	0.3540	0.3620	0.3514	0.3567	0.3851	0.3531	0.3528	0.3797	0.3774	0.3470	0.3424	0.3544	0.3851	0.3561	0.3445	0.3513	0.3570	0.3803	0.2121	0.2083	0.2079	0.2167	0.3049	0.2100	0.2092	0.2916	0.2862	0.2187	0.1708	0.1807	0.1672	0.3049	0.2926	0.1352	0.1984	0.2037	0.2610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	637.48	24	chr16	23445969	.	TA	T	637.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.502;DP=197;ExcessHet=6.1542;FS=1.649;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=6.64;ReadPosRankSum=0.033;SOR=0.89	GT:AD:DP:GQ:PL	0/1:11,8:20:99:128,0,220	1	0	5	0
chr16	55810997	55810997	T	C	exonic	CES1	.	nonsynonymous SNV	CES1:NM_001025194:exon10:c.A1097G:p.Y366C,CES1:NM_001025195:exon10:c.A1100G:p.Y367C,CES1:NM_001266:exon10:c.A1094G:p.Y365C	Carboxylesterase 1 deficiency (3)	48	1451	22	1	0	24	0.00820232	.	.	.	3293315	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.180	0.0610627852147	0.0005	0.000399361	0.0008	0.0001	0.0014	0	0	0.0009	0.0011	0.0014	0.000815	126	154602	rs146595460	0.0006	0.0007	0.0006	0.0007	0.0232	0.0006	0.0006	0.0200	0.0188	0.0002	0.0017	3.83e-05	2.519e-05	1.873e-05	0.0232	0.0005	0.0016	0.0011	0.0007	0.0007	0.0008	0.0007	0.0018	0.0006	0.0006	0.0009	0.0007	0.0002	0	0.0010	0	0.0002	0	0.0216	0.0010	0.0021	0.0018	0.091	0.31834	T	0.139	0.36497	T	0.073	0.25085	B	0.067	0.31460	B	0.020799	0.26966	N	0.263259	1	0.08975	N	2.21	0.62235	M	-0.27	0.67367	T	-4.88	0.81514	D	0.619	0.63459	-0.7866	0.55927	T	0.248	0.61716	T	10	0.067707956	0.09472	T	0.061063	0.68209	D	0.180	0.45073	.	.	0.349647731962	0.34572	0.5888869046358343	0.58818	0.192353595073	0.21563	0.428192168474	0.28962	T	0.438382	0.78406	T	-0.385286	0.02884	T	-0.350841	0.39109	T	0.0287889939344479	0.01806	T	0.314169	0.08250	T	0.41461518	0.61731	0.35702112	0.61203	0.41461518	0.61732	0.35702112	0.61203	-5.588	0.63945	T	0.6357578900828309	0.70576	0.268	0.50232	B	.;.;.	.;.;.	1.116739	0.15023	11.52	0.56484486661834254	0.05562	0.04586	0.10236	N	AEFBI	0.392498	0.47052	N	-0.912229294996226	0.10555	0.504939	-0.968974354935353	0.10486	0.5284446	0.00248345263689058	0.09470	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.54	0.628	0.16854	-0.275000	0.08557	-10.792000	0.00665	-0.178000	0.10482	0.153000	0.23698	0.000000	0.08366	0.065000	0.16320	0.327:0.0:0.1696:0.5034	4.815	0.12728	928	0.17405	.;.;Carboxylesterase, type B	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.030303	0.013587	0.023392	0.000000	0.017241	0.006098	0.003788	0.1667	2892.06	35	chr16	55810997	.	T	C	2892.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.77;DP=772;ExcessHet=0.4139;FS=0.584;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=5.45;ReadPosRankSum=0.161;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:224,69:293:99:.:.:1217,0,5605:.	4	0	2	0
chr16	57931772	57931772	C	T	exonic	CNGB1	.	synonymous SNV	CNGB1:NM_001286130:exon17:c.G1461A:p.P487P,CNGB1:NM_001297:exon17:c.G1479A:p.P493P	Retinitis pigmentosa 45, Autosomal recessive	0	1483	39	0	0	39	0.0129784	.	.	.	99599	not_provided|Retinitis_pigmentosa_45|Retinitis_pigmentosa|not_specified	MedGen:C3661900|MONDO:MONDO:0013413,MedGen:C3151066,OMIM:613767,Orphanet:791|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0034	0.00139776	0.0040	0.0004	0.0027	0.0001	0.0020	0.0059	0.0033	0.0018	0.0038292	592	154602	rs1052029	0.0042	0.0042	0.0042	0.0041	0.0177	0.0041	0.0040	0.0149	0.0139	0.0008	0.0025	0.0013	7.557e-05	0.0023	0.0177	0.0048	0.0039	0.0016	0.0030	0.0030	0.0028	0.0031	0.0046	0.0028	0.0027	0.0042	0.0040	0.0008	0	0.0044	0.0026	0	0.0010	0.0068	0.0046	0.0061	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.012588	0.000000	0.017663	0.020468	0.000000	0.017241	0.009146	0.007576	0.08333	589.83	38	chr16	57931772	.	C	T	589.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.643;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.678;SOR=0.582	GT:AD:DP:GQ:PL	0/1:27,25:52:99:600,0,670	5	0	1	0
chr16	86513394	86513394	-	T	UTR3	FOXF1	NM_001451:c.*309_*310insT	.	.	Alveolar capillary dysplasia with misalignment of pulmonary veins, Autosomal dominant	1165	284	20	53	0	126	0.181556	.	.	.	336349	Alveolar_capillary_dysplasia_with_pulmonary_venous_misalignment|not_provided	MONDO:MONDO:0009934,MedGen:C2960310,OMIM:265380,Orphanet:210122|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18799	4893	26028	rs11392376	0.3517	0.2949	0.3418	0.3609	0.7850	0.3497	0.3489	0.7685	0.7618	0.7850	0.3611	0.3453	0.1825	0.3261	0.4485	0.3177	0.3568	0.4954	0.4602	0.4615	0.4635	0.4567	0.7838	0.4573	0.4561	0.7766	0.7737	0.7838	0.2923	0.3829	0.3420	0.1934	0.3376	0.5272	0.3267	0.4238	0.4940	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	252.19	1	chr16	86513394	.	C	CT	252.19	.	AC=4;AF=0.4;AN=10;DP=12;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.4;MQ=60;QD=30.27;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:86513394_C_CT:135,9,0:86513394	3	2	0	1
chr16	89919895	89919895	C	T	exonic	MC1R	.	nonsynonymous SNV	MC1R:NM_002386:exon1:c.C637T:p.R213W	.	0	1518	4	0	0	4	0.00131579	.	.	.	343073	Tyrosinase-positive_oculocutaneous_albinism|Melanoma,_cutaneous_malignant,_susceptibility_to,_5	MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432|MONDO:MONDO:0013133,MedGen:C2751295,OMIM:613099,Orphanet:618	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.149	0.027755446482	0.0005	0.000798722	0.0003	0.0004	0.0002	0	0	0.0005	0.0011	0.0002	0.0003299	51	154602	rs200000734	0.0004	0.0004	0.0005	0.0004	0.0008	0.0004	0.0004	0.0006	0.0005	0.0008	0.0004	3.831e-05	0	2.128e-05	0.0005	0.0005	0.0005	0.0001	0.0007	0.0007	0.0008	0.0006	0.0009	0.0006	0.0005	0.0007	0.0006	0.0009	0.0154	0.0008	0	0	9.414e-05	0.0068	0.0006	0.0005	0	0.004	0.91255	D	0.01	0.83351	D	0.019	0.17989	B	0.047	0.24832	B	0.295046	0.14699	U	0.498399	0.824017	0.28846	N	2.87	0.83286	M	1.15	0.38236	T	-1.34	0.33401	N	0.444	0.48227	-0.9495	0.41058	T	0.119	0.41713	T	9	0.018007338	0.00388	T	0.027755	0.50530	D	0.149	0.39377	.	.	0.724249103782	0.72181	0.6477777833167938	0.64712	0.0187430441396	0.01823	.	.	.	0.321102	0.69223	T	-0.31512	0.07305	T	-0.331843	0.41263	T	0.0730260696132213	0.09069	T	0.805419	0.45479	T	0.20714551	0.42911	0.24822746	0.50369	0.20714551	0.42911	0.24822746	0.50368	-7.883	0.60270	D	0.6428663167216301	0.71384	0.149	0.32969	B	.;.;.;.	.;.;.;.	3.296614	0.45235	22.1	0.99691304329774044	0.79977	0.78157	0.38519	D	AEFDBHCI	0.691242	0.65131	D	-0.426581096316887	0.24541	1.325827	-0.416952840947091	0.24500	1.34191	0.999999999979111	0.74766	0.764865	0.99124	0	0.610034	0.51514	0	0.731555	0.93304	0	0.664235	0.64389	0	.	.	4.67	2.65	0.30588	1.290000	0.32925	2.547000	0.33245	-0.236000	0.07595	0.974000	0.34632	0.874000	0.27626	0.000000	0.00833	0.2996:0.7004:0.0:0.0	12.654	0.56142	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1075.83	38	chr16	89919895	.	C	T	1075.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.71;DP=272;ExcessHet=0;FS=3.312;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=-1.104;SOR=1.015	GT:AD:DP:GQ:PL	0/1:34,34:68:99:1086,0,922	5	0	1	0
chr17	3648932	3648932	G	C	splicing	CTNS	NM_001031681:exon5:c.225+1G>C;NM_001374492:exon5:c.225+1G>C;NM_004937:exon5:c.225+1G>C;NM_001374494:exon4:UTR5	.	.	Cystinosis, atypical nephropathic, Autosomal recessive;Cystinosis, late-onset juvenile or adolescent nephropathic, Autosomal recessive;Cystinosis, nephropathic, Autosomal recessive;Cystinosis, ocular nonnephropathic, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	3398648	Nephropathic_cystinosis	MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.436e-05	0.0001	3.331e-05	1.536e-05	0.0001	1.769e-05	1.565e-05	4.129e-05	2.404e-05	0.0001	0	0	0	0	0	2.846e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.564985	0.92168	32	0.99013568629743054	0.50420	0.98683	0.85537	D	AEFBI	.	.	.	1.03179274073246	0.96641	14.95034	0.838146727094735	0.92305	11.35053	0.999987276666517	0.51787	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.117559	0.03655	0	0.977595	0.81320	5.06	5.06	0.67838	6.350000	0.72965	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.0:0.0:1.0:0.0	18.302	0.90109	789	0.46346	.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	84.69	81	chr17	3648932	.	G	C	84.69	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.569;DP=463;ExcessHet=1.383;FS=322.385;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=-0.181;SOR=10.408	GT:AD:DP:GQ:PL	0/1:40,19:73:23:23,0,652	3	0	3	0
chr17	16952519	16952519	A	G	exonic	TNFRSF13B	.	synonymous SNV	TNFRSF13B:NM_012452:exon2:c.T126C:p.P42P	Immunodeficiency, common variable, 2, Autosomal recessive, Autosomal dominant;Immunoglobulin A deficiency 2	0	1521	1	0	0	1	0.000328623	.	.	.	345080	TNFRSF13B-related_disorder|Immunodeficiency,_common_variable,_2|Common_Variable_Immune_Deficiency,_Dominant	.|MONDO:MONDO:0009413,MedGen:C3150354,OMIM:240500,Orphanet:1572|MedGen:CN239265	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0002	0	0	0.0007	0	0.0002	0	6.059e-05	0.0001488	23	154602	rs377551435	0.0001	0.0001	0.0001	0.0002	0.0022	0.0001	0.0001	0.0018	0.0017	0	0	0.0034	0.0022	0	0	1.978e-05	0.0002	5.797e-05	0.0001	0.0001	0.0001	0.0001	0.0010	7.084e-05	5.741e-05	0.0004	0.0002	0	0	0	0.0035	0.0010	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.08333	859.83	47	chr17	16952519	.	A	G	859.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.511;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=1.73;SOR=0.704	GT:AD:DP:GQ:PL	0/1:38,34:72:99:870,0,1055	5	0	1	0
chr17	18130817	18130817	-	GT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	327562	not_specified|Hearing_loss,_autosomal_recessive|not_provided	MedGen:CN169374|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs1491181087	0.0508	0.0762	0.0487	0.0530	0.0674	0.0505	0.0503	0.0640	0.0633	0.0610	0.0556	0.0884	0.0385	0.0916	0.0674	0.0454	0.0670	0.0656	0.1518	0.1577	0.1527	0.1507	0.1608	0.1497	0.1488	0.1564	0.1547	0.1608	0.1330	0.1588	0.1560	0.0561	0.1838	0.1758	0.1499	0.1741	0.1314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2487.32	26	chr17	18130817	.	A	AGT	2487.32	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.29;DP=437;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.69;ReadPosRankSum=-0.912;SOR=1.029	GT:AD:DP:GQ:PL	0/1:3,9:12:17:155,0,17	0	0	6	0
chr17	18138127	18138127	C	T	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon16:c.C4888T:p.R1630C	Deafness, autosomal recessive 3, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	272122	not_provided|Childhood_onset_hearing_loss|Autosomal_recessive_nonsyndromic_hearing_loss_3|not_specified	MedGen:C3661900|.|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.620	.	0.0023	0.00359425	0.0008	0.0083	0.0003	0	0	0.0001	0.0022	0	0.0008473	131	154602	rs138861831	0.0004	0.0004	0.0004	0.0004	0.0101	0.0004	0.0004	0.0092	0.0089	0.0101	0.0006	0	0	0	0.0029	0.0002	0.0009	0	0.0026	0.0026	0.0028	0.0024	0.0089	0.0024	0.0023	0.0082	0.0079	0.0089	0	0.0007	0	0	0	0.0068	0.0002	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	3.82	0.95555	H	-2.47	0.88997	D	-6.98	0.93582	D	0.558	0.63035	0.695	0.93114	D	0.786	0.92740	D	9	0.011051863	0.00243	T	.	.	.	0.620	0.85249	.	.	0.909497451058	0.90859	0.42941685205003743	0.42858	.	.	0.568389952183	0.48449	T	0.267439	0.97209	T	-0.126339	0.32091	T	0.0524274	0.73743	D	0.122083781124207	0.14632	T	0.976102	0.91674	D	0.8456483	0.87016	0.80183405	0.88385	0.8423644	0.86779	0.82665604	0.89968	-7.532	0.57835	D	0.6327317834138518	0.70235	0.151	0.33435	B	.;.;.	.;.;.	5.010012	0.83197	28.0	0.99680601399206259	0.79241	0.94927	0.62815	D	AEFBI	0.627005	0.60962	D	0.77418596279507	0.84469	8.296174	0.655713987150523	0.79038	6.998433	0.999693112610274	0.41870	0.516011	0.20929	0	0.59043	0.45803	0	0.657636	0.52715	0	0.586402	0.36253	0	.	.	5.47	5.47	0.80345	1.781000	0.38274	4.837000	0.45250	0.599000	0.40250	0.883000	0.31049	1.000000	0.68203	0.994000	0.71098	0.1371:0.8628:0.0:0.0	15.708	0.77358	212	0.91760	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XV myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XV myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XV myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	832.83	30	chr17	18138127	.	C	T	832.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.29;DP=205;ExcessHet=0;FS=1.303;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.72;ReadPosRankSum=-2.935;SOR=1.17	GT:AD:DP:GQ:PL	0/1:17,30:47:99:843,0,389	5	0	1	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	0.5	5194.53	39	chr17	19909228	.	T	C	5194.53	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.736;DP=415;ExcessHet=2.3007;FS=2.763;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.035;SOR=0.773	GT:AD:DP:GQ:PL	0/1:37,30:67:99:722,0,853	1	1	4	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	17578.6	207	chr17	21300880	.	C	T	17578.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.59;DP=1079;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=-0.484;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,86:186:99:0|1:21300875_G_T:3262,0,3940:21300875	0	0	6	0
chr17	40818851	40818851	-	GCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCT	exonic	KRT10	.	nonframeshift insertion	KRT10:NM_000421:exon7:c.1683_1684insAGCTCCGGCGGCGGATACGGCGGCGGCAGCAGCTCCGGCGGCGGATACGGCGGCGGCAGC:p.G565_H566insGYGGGSSSGGGYGGGSSSGG,KRT10:NM_001379366:exon7:c.1683_1684insAGCTCCGGCGGCGGATACGGCGGCGGCAGCAGCTCCGGCGGCGGATACGGCGGCGGCAGC:p.G565_H566insGYGGGSSSGGGYGGGSSSGG	Epidermolytic hyperkeratosis, Autosomal recessive, Autosomal dominant;Ichthyosis with confetti, Autosomal dominant;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Autosomal dominant	2	1227	180	18	95	311	0.0808989	.	.	.	1038525	not_specified|not_provided|Epidermolytic_ichthyosis|Congenital_reticular_ichthyosiform_erythroderma|Annular_epidermolytic_ichthyosis	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0007475,MONDO:MONDO:0007239,MedGen:C0079153,OMIM:PS113800,Orphanet:312|MONDO:MONDO:0012208,MedGen:C3665704,OMIM:609165,Orphanet:281190|MONDO:MONDO:0011870,MedGen:C1843463,OMIM:PS607602,Orphanet:281139	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0079	0.0084	0.0076	0.0082	0.0568	0.0078	0.0077	0.0547	0.0538	0.0086	0.0049	0.0219	0.0568	0.0234	0.0151	0.0053	0.0136	0.0060	0.0202	0.0217	0.0206	0.0198	0.0859	0.0196	0.0193	0.0784	0.0755	0.0172	0.0223	0.0172	0.0316	0.0859	0.0179	0.0276	0.0175	0.0269	0.0228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3336.88	34	chr17	40818851	.	A	AGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCT	3336.88	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.02;DP=416;ExcessHet=3.1439;FS=16.645;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=20.47;ReadPosRankSum=-0.509;SOR=1.831	GT:AD:DP:GQ:PL	0/1:21,19:40:99:705,0,828	4	0	2	0
chr17	41569459	41569459	G	A	exonic	KRT9	.	synonymous SNV	KRT9:NM_000226:exon4:c.C1011T:p.N337N	Palmoplantar keratoderma, epidermolytic, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	338330	Palmoplantar_keratoderma,_epidermolytic|not_provided	Human_Phenotype_Ontology:HP:0007559,MONDO:MONDO:0968949,MedGen:C1721006,OMIM:PS144200|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0007	.	0.0013	0.0008	8.74e-05	0	0.0021	0.0014	0.0011	0.0019	0.0012096	187	154602	rs143100726	0.0013	0.0013	0.0013	0.0013	0.0024	0.0013	0.0012	0.0022	0.0020	0.0002	2.236e-05	0	0	0.0013	0.0007	0.0014	0.0010	0.0024	0.0008	0.0008	0.0007	0.0008	0.0012	0.0007	0.0006	0.0010	0.0010	0.0002	0	0.0001	0	0	0.0014	0	0.0012	0.0005	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	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1210.83	36	chr17	41569459	.	G	A	1210.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.94;DP=248;ExcessHet=0;FS=3.512;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=-0.837;SOR=1.201	GT:AD:DP:GQ:PL	0/1:31,42:73:99:1221,0,857	5	0	1	0
chr17	58218618	58218618	A	G	splicing	MKS1	NM_001165927:exon2:c.160+2T>C;NM_001321268:exon2:UTR5;NM_001330397:exon2:c.190+2T>C;NM_017777:exon2:c.190+2T>C;NM_001321269:exon2:c.190+2T>C	.	.	Bardet-Biedl syndrome 13, Autosomal recessive;Joubert syndrome 28, Autosomal recessive;Meckel syndrome 1, Autosomal recessive	1	1520	1	0	0	1	0.000328839	0.9999	0.904	YES	548579	Joubert_syndrome|Meckel-Gruber_syndrome|Meckel_syndrome,_type_1|Bardet-Biedl_syndrome_13|MKS1-related_disorder|not_provided|Joubert_syndrome_28	MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000,Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990,Orphanet:110|MedGen:CN239382|MedGen:C3661900|MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121	criteria_provided,_multiple_submitters,_no_conflicts	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	8.1e-05	.	2.487e-05	0	0	0	0	4.499e-05	0	0	1.94e-05	3	154602	rs375170572	1.456e-05	1.505e-05	1.244e-05	1.669e-05	4.476e-05	9.35e-06	7.94e-06	7.42e-06	5.11e-06	0	4.476e-05	0	0	0	0	1.188e-05	8.361e-05	1.165e-05	3.286e-05	3.283e-05	5.14e-05	1.346e-05	0.0002	1.261e-05	7.98e-06	5.292e-05	2.837e-05	0	0	0.0002	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502586	0.94367	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.626844	0.92645	32	0.98923487377540331	0.48602	0.73730	0.36064	D	AEFDBCI	.	.	.	1.05215918595659	0.97140	15.65029	0.906772900412274	0.95860	14.04479	0.999999990984702	0.74766	0.256391	0.04301	0	0.274575	0.05135	0	0.10224	0.03073	0	0.096704	0.02935	0	0.982835	0.89293	5.65	5.65	0.86881	4.480000	0.59977	11.209000	0.89330	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	12.279	0.54069	572	0.70300	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	530.83	34	chr17	58218618	.	A	G	530.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.693;DP=234;ExcessHet=0;FS=3.662;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=-1.306;SOR=1.279	GT:AD:DP:GQ:PL	0/1:34,26:60:99:541,0,825	5	0	1	0
chr17	80184196	80184196	G	A	exonic	CARD14	.	synonymous SNV	CARD14:NM_001257970:exon4:c.G633A:p.E211E,CARD14:NM_024110:exon4:c.G633A:p.E211E,CARD14:NM_001366385:exon7:c.G633A:p.E211E	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	0	505	725	292	0	1309	0.564467	.	.	.	390302	not_provided|Pityriasis_rubra_pilaris|Psoriasis_2|not_specified	MedGen:C3661900|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3867	0.347045	0.4547	0.4591	0.4132	0.3050	0.5434	0.4586	0.4259	0.4751	0.27294	42197	154602	rs4889990	0.3755	0.3729	0.3740	0.3771	0.4346	0.3747	0.3743	0.4308	0.4292	0.4143	0.2620	0.3677	0.2342	0.3867	0.4186	0.3783	0.3740	0.4346	0.3784	0.3786	0.3796	0.3771	0.4262	0.3758	0.3747	0.4112	0.4091	0.4164	0.3315	0.3063	0.3686	0.2088	0.3755	0.4150	0.3826	0.3685	0.4262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.432990	0.461957	0.414127	0.444118	0.550000	0.500000	0.412500	0.418605	0.4167	9643.52	41	chr17	80184196	.	G	A	9643.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.983;DP=819;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.162;SOR=0.753	GT:AD:DP:GQ:PL	0/1:47,94:141:99:2534,0,1149	1	0	5	0
chr17	80184264	80184264	G	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	6	48	368	1100	0	2568	0.963964	.	.	.	1182690	not_provided|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8544	0.794928	0.8441	0.8710	0.6889	0.7366	0.875	0.8428	0.8415	0.8743	0.0001153	3	26028	rs4889991	0.8195	0.8061	0.8183	0.8207	0.8980	0.8182	0.8177	0.8731	0.8630	0.8708	0.5961	0.8636	0.7159	0.8355	0.8980	0.8246	0.8170	0.8429	0.8196	0.8195	0.8222	0.8169	0.8624	0.8158	0.8142	0.8549	0.8519	0.8624	0.8772	0.6669	0.8646	0.6716	0.8401	0.9144	0.8312	0.8078	0.8411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	15566.7	108	chr17	80184264	.	G	A	15566.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=0.451;DP=687;ExcessHet=1.383;FS=0;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=23.55;ReadPosRankSum=0.519;SOR=0.719	GT:AD:DP:GQ:PL	0/1:34,64:98:99:1783,0,745	0	3	3	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	.	.	.	.	.	.	.	.	0.1667	2267.06	35	chr17	80202434	.	T	A	2267.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.971;DP=300;ExcessHet=0.4139;FS=4.283;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=0.169;SOR=0.427	GT:AD:DP:GQ:PL	0/1:29,41:70:99:1014,0,845	4	0	2	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	0.1667	4438.06	34	chr17	80205094	.	C	T	4438.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.012;DP=534;ExcessHet=0.4139;FS=1.208;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=0.95;SOR=0.628	GT:AD:DP:GQ:PL	0/1:108,90:198:99:2072,0,2583	4	0	2	0
chr17	80208119	80208119	C	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	2	1229	268	23	0	314	0.113276	.	.	.	1158191	not_provided|Psoriasis_2|Pityriasis_rubra_pilaris|not_specified	MedGen:C3661900|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0888	0.0720847	0.1526	0.0280	0.1084	0.0075	0.2308	0.1873	0.1186	0.1770	0.0424962	6570	154602	rs111745899	0.1426	0.1377	0.1425	0.1428	0.1531	0.1421	0.1419	0.1525	0.1522	0.0236	0.0832	0.1421	0.0128	0.1780	0.1180	0.1531	0.1319	0.1183	0.1098	0.1098	0.1093	0.1102	0.1530	0.1084	0.1078	0.1505	0.1495	0.0271	0.1371	0.1085	0.1509	0.0098	0.1816	0.1463	0.1530	0.1191	0.1250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1557.06	33	chr17	80208119	.	C	A	1557.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.63;DP=290;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.214;SOR=0.646	GT:AD:DP:GQ:PL	0/1:25,31:56:99:780,0,741	4	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	964.06	39	chr18	57580222	.	G	A	964.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.659;DP=145;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=1;SOR=0.909	GT:AD:DP:GQ:PL	0/1:8,12:20:99:354,0,237	4	0	2	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	0.1667	244.03	22	chr19	33301848	.	GGGC	G	244.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.606;DP=110;ExcessHet=0.4139;FS=1.617;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=7.18;ReadPosRankSum=0.061;SOR=0.35	GT:AD:DP:GQ:PL	0/1:12,4:16:99:132,0,482	4	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	2485.44	35	chr19	57231146	.	G	GC	2485.44	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.567;DP=238;ExcessHet=0;FS=2.655;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=26.44;ReadPosRankSum=-1.401;SOR=1.221	GT:AD:DP:GQ:PL	1/1:0,28:28:84:909,84,0	3	2	1	0
chr20	3234173	3234173	T	G	exonic	SLC4A11	.	synonymous SNV	SLC4A11:NM_032034:exon4:c.A481C:p.R161R,SLC4A11:NM_001174089:exon5:c.A433C:p.R145R,SLC4A11:NM_001174090:exon5:c.A562C:p.R188R,SLC4A11:NM_001363745:exon5:c.A433C:p.R145R	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	0	589	691	242	0	1175	0.499363	.	.	YES	257346	not_provided|Corneal_dystrophy-perceptive_deafness_syndrome|not_specified|Corneal_dystrophy|Congenital_hereditary_endothelial_dystrophy_of_cornea	MedGen:C3661900|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orphanet:293603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4809	0.479832	0.4365	0.6500	0.4606	0.5707	0.5076	0.4051	0.4592	0.3121	0.0001537	4	26028	rs3827075	0.4110	0.4110	0.4142	0.4077	0.6526	0.4101	0.4098	0.6453	0.6423	0.6526	0.4601	0.3812	0.5478	0.5051	0.3844	0.3997	0.4275	0.3151	0.4855	0.4856	0.4826	0.4886	0.6474	0.4826	0.4814	0.6409	0.6382	0.6474	0.4582	0.4720	0.3725	0.5688	0.5216	0.3596	0.3968	0.4409	0.3309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.392246	0.474747	0.387228	0.353801	0.250000	0.379310	0.420732	0.363636	0.5833	14975.9	210	chr20	3234173	.	T	G	14975.9	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-0.996;DP=911;ExcessHet=0.7136;FS=0;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=17.79;ReadPosRankSum=-1.471;SOR=0.745	GT:AD:DP:GQ:PL	1/1:0,159:159:99:4605,477,0	1	2	3	0
chr20	44429378	44429378	T	C	intronic	HNF4A	.	.	.	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	212	501	433	376	0	1185	0.541838	.	.	.	669135	not_provided|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.380192	.	.	.	.	.	.	.	.	0.091894	14207	154602	rs3746574	0.4904	0.4943	0.4926	0.4883	0.5585	0.4890	0.4885	0.5351	0.5260	0.3847	0.2913	0.6353	0.3116	0.4854	0.5585	0.5285	0.4894	0.3970	0.4582	0.4591	0.4651	0.4511	0.5235	0.4554	0.4542	0.5189	0.5171	0.3855	0.5872	0.3784	0.6432	0.2994	0.4658	0.5788	0.5235	0.4867	0.3900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	768.99	6	chr20	44429378	.	T	C	768.99	.	AC=8;AF=0.8;AN=10;DP=27;ExcessHet=0;FS=0;MLEAC=8;MLEAF=0.8;MQ=60;QD=34.95;SOR=1.931	GT:AD:DP:GQ:PL	1/1:0,2:2:6:84,6,0	1	4	0	1
chr22	41925447	41925447	G	A	exonic	TNFRSF13C	.	nonsynonymous SNV	TNFRSF13C:NM_052945:exon3:c.C475T:p.H159Y	Immunodeficiency, common variable, 4, Autosomal recessive	1	1457	58	6	0	70	0.0234584	.	.	.	433980	Immunodeficiency,_common_variable,_4|not_provided	MONDO:MONDO:0013284,MedGen:C3150739,OMIM:613494,Orphanet:1572|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.170	.	0.0052	0.00339457	0.0056	0.0022	0.0075	0	0.0025	0.0068	0.0113	0.0056	0.0054462	842	154602	rs61756766	0.0058	0.0058	0.0056	0.0060	0.0175	0.0057	0.0057	0.0148	0.0137	0.0010	0.0071	0.0047	0	0.0028	0.0175	0.0063	0.0063	0.0053	0.0058	0.0058	0.0062	0.0054	0.0114	0.0055	0.0054	0.0100	0.0095	0.0014	0	0.0114	0.0049	0	0.0024	0.0102	0.0082	0.0123	0.0042	0.0	0.91255	D	0.0	0.92824	D	0.994	0.66517	D	0.782	0.57384	P	0.000050	0.53742	D	0.000000	0.977083	0.39334	D	1.845	0.48678	L	1.12	0.38718	T	-5.5	0.85844	D	0.577	0.59901	-0.9272	0.44545	T	0.107	0.39027	T	10	0.008018851	0.00182	T	.	.	.	0.170	0.43303	.	.	0.171220215726	0.16700	0.24987367141535083	0.24901	2.05243479993	0.94345	0.620077431202	0.55740	T	0.719618	0.92065	D	-0.243223	0.14939	T	-0.114188	0.62276	T	0.0335856785113751	0.02568	T	0.572743	0.20478	T	0.809143	0.84497	0.7438588	0.84860	0.809143	0.84498	0.7438588	0.84861	-5.305	0.39993	T	0.7740092395808532	0.85470	0.357	0.57003	A	.	.	4.121410	0.61610	24.4	0.99719896673004715	0.81984	0.79281	0.39256	D	AEFDGBCI	0.531585	0.55180	D	0.494203397348341	0.66748	4.990736	0.518743897306911	0.69252	5.333989	0.999999999999299	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	5.33	5.33	0.75683	3.829000	0.55461	11.413000	0.92696	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.726000	0.34967	0.0:0.0:1.0:0.0	14.897	0.70291	130	0.94779	.	.	.	.	.	rs61756766	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.025253	0.021798	0.032353	0.000000	0.008621	0.009146	0.011364	0.1667	1406.06	40	chr22	41925447	.	G	A	1406.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.489;DP=267;ExcessHet=0.4139;FS=0.7;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.441;SOR=0.823	GT:AD:DP:GQ:PL	0/1:27,32:59:99:778,0,647	4	0	2	0
chr22	41926712	41926712	G	C	exonic	TNFRSF13C	.	nonsynonymous SNV	TNFRSF13C:NM_052945:exon1:c.C62G:p.P21R	Immunodeficiency, common variable, 4, Autosomal recessive	15	1338	155	14	0	183	0.0640084	.	.	.	351721	not_provided|Immunodeficiency,_common_variable,_4	MedGen:C3661900|MONDO:MONDO:0013284,MedGen:C3150739,OMIM:613494,Orphanet:1572	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.026	.	0.0228	0.0445288	0.0680	0.0278	0.0143	0.0192	.	0.0675	0.075	0.0707	0.0156208	2415	154602	rs77874543	0.0757	0.0701	0.0763	0.0751	0.0807	0.0753	0.0751	0.0803	0.0801	0.0105	0.0430	0.0485	0.0477	0.0840	0.0523	0.0807	0.0666	0.0610	0.0559	0.0559	0.0562	0.0556	0.0794	0.0549	0.0545	0.0777	0.0769	0.0136	0.0418	0.0572	0.0446	0.0429	0.0777	0.0345	0.0794	0.0587	0.0606	0.269	0.16091	T	0.331	0.18505	T	0.177	0.28923	B	0.075	0.28327	B	0.055018	0.02067	N	2.146310	1	0.08975	P	0.55	0.14455	N	1.53	0.30401	T	-1.69	0.40274	N	0.032	0.00825	-1.0627	0.11093	T	0.003	0.00961	T	9	0.002217114	0.00032	T	.	.	.	0.026	0.05648	.	.	.	.	0.04705350402181684	0.04648	1.2817330372	0.82558	0.726921379566	0.71056	T	0.256713	0.62766	T	-0.726849	0.00025	T	-0.752614	0.03385	T	0.000626430001430001	0.00006	T	0.325267	0.06676	T	0.12616447	0.29558	0.09551607	0.22656	0.12616447	0.29558	0.09551607	0.22655	-4.891	0.35633	T	0.19346262128255112	0.25457	0.065	0.01960	B	.	.	1.243087	0.16388	12.51	0.73759748228903677	0.10445	0.07539	0.13553	N	ALL	0.051617	0.09136	N	-1.01591527802177	0.08273	0.3873328	-1.06527188759641	0.08392	0.4124026	0.999999997465868	0.74766	0.56387	0.32371	0	0.52208	0.09955	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.67	0.119	0.13989	-0.668000	0.05369	-0.744000	0.07606	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.278000	0.23967	0.1662:0.0:0.4361:0.3977	5.210	0.14633	130	0.94779	Tumour necrosis factor receptor 13C, TALL-1 binding domain	NAGA|SMDT1|NDUFA6-AS1|CYP2D7|SMDT1|NDUFA6-AS1|RP4-669P10.20|TNFRSF13C|SMDT1|SMDT1|NAGA|SMDT1|SMDT1|SMDT1|NDUFA6-AS1|RP4-669P10.20|CYP2D7|SMDT1|NDUFA6-AS1|RP4-669P10.19|RP4-669P10.20|CYP2D7|CYP2D7|CYP2D7|SMDT1|RP4-669P10.20|CYP2D7|TNFRSF13C|FAM109B|SMDT1|TNFRSF13C|SMDT1|NDUFA6-AS1|SMDT1|NDUFA6-AS1|CYP2D6|RP4-669P10.20|CYP2D7|SMDT1|CENPM|SMDT1|CYP2D6|CYP2D7|SMDT1|NAGA|RP4-669P10.19|NAGA|SMDT1|SEPT3|SMDT1|NDUFA6-AS1|RP4-669P10.20|CYP2D7|NAGA|SMDT1|RP4-669P10.19|RP4-669P10.20|EP300|NAGA|SMDT1|NDUFA6-AS1|RP4-669P10.19|RP4-669P10.20|CYP2D7|SMDT1|SMDT1|SMDT1|CYP2D7|SMDT1|NDUFA6-AS1|ACO2|CENPM|NAGA|SMDT1|NDUFA6-AS1|CYP2D6|CYP2D7|CYP2D8P|CENPM|NAGA|SMDT1|CYP2D6|CYP2D7|CYP2D8P|SMDT1|RP4-669P10.20|TNFRSF13C|SMDT1|SMDT1|NDUFA6-AS1|TNFRSF13C|SMDT1|RP4-669P10.20|CYP2D7|NAGA|SMDT1|NDUFA6-AS1|OLA1P1|CYP2D6|RP4-669P10.20|CYP2D7|CYP2D8P|SMDT1|DESI1|SMDT1|CYP2D6|CYP2D7|CYP2D8P	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|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|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|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|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood	CYP2D6|CYP2D6|CYP2D7|NDUFA6-AS1|CYP2D6|CYP2D7|NDUFA6-AS1|NDUFA6-AS1|CYP2D6|CYP2D7|NDUFA6-AS1|NDUFA6-AS1|NDUFA6-AS1|CYP2D6|CYP2D7|CYP2D6|CYP2D7|NDUFA6-AS1|CYP2D6|CYP2D7|NDUFA6-AS1|NDUFA6-AS1|NDUFA6-AS1|CYP2D7|SREBF2|CYP2D6|CYP2D7|SREBF2|CYP2D6|CYP2D7|CYP2D6|CYP2D7|SREBF2|SREBF2|CYP2D6|CYP2D7|CYP2D6|CYP2D7|NDUFA6-AS1|SREBF2|CYP2D6|CYP2D7	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Hippocampus|Brain_Hypothalamus|Brain_Putamen_basal_ganglia|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Liver|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pituitary|Pituitary|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|Testis|Whole_Blood|Whole_Blood|Whole_Blood	rs77874543	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	0.047660	0.030303	0.030556	0.072034	0.000000	0.064516	0.055000	0.034722	0.25	563.62	15	chr22	41926712	.	G	C	563.62	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.18;DP=90;ExcessHet=1.383;FS=1.026;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=1.29;SOR=0.518	GT:AD:DP:GQ:PL	0/1:2,14:16:1:366,0,1	3	0	3	0
chr22	43928847	43928847	C	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon3:c.C444G:p.I148M	.	418	622	397	85	0	567	0.313087	.	.	.	352627	NAFLD1|Hepatic_steatosis|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|Human_Phenotype_Ontology:HP:0001397,Human_Phenotype_Ontology:HP:0002252,Human_Phenotype_Ontology:HP:0200121,MONDO:MONDO:0004790,MedGen:C2711227|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.339	.	0.1953	0.262181	0.2632	0.1376	0.5723	0.3785	0.2262	0.2293	0.2687	0.2174	0.255825	39551	154602	rs738409	0.2325	0.2339	0.2333	0.2317	0.5358	0.2319	0.2316	0.5301	0.5278	0.1320	0.5358	0.2180	0.4180	0.2272	0.2696	0.2179	0.2294	0.2237	0.2281	0.2285	0.2230	0.2335	0.4235	0.2261	0.2253	0.4148	0.4113	0.1395	0.2720	0.4235	0.2111	0.3866	0.2201	0.2483	0.2262	0.2624	0.2372	0.054	0.38633	T	0.003	0.76473	D	0.994	0.66517	D	0.944	0.68059	D	0.016391	0.27990	N	0.316000	0.000289165	0.48481	P	3.045	0.86684	M	-1.41	0.80560	T	-2.57	0.55501	D	0.173	0.18512	-1.0285	0.20940	T	0.000	0.00011	T	9	0.0025928915	0.00039	T	.	.	.	0.339	0.66106	.	.	.	.	0.6869485544173306	0.68634	0.503164557005	0.48655	0.487125337124	0.37040	T	0.29702	0.66963	T	-0.485539	0.00687	T	-0.326399	0.41867	T	0.0306719473680774	0.02094	T	0.692831	0.33234	T	0.40859076	0.61323	0.35764056	0.61255	0.40859076	0.61324	0.35764056	0.61254	-9.124	0.68491	D	.	.	0.329	0.55166	B	.;.	.;.	1.374372	0.17849	13.40	0.99302197316743868	0.58686	0.52933	0.29250	D	AEFBCI	0.108930	0.21653	N	-0.255780834863084	0.30874	1.725634	-0.533311740709871	0.21251	1.14871	0.99975902258671	0.42595	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.7	-1.97	0.07091	-1.142000	0.03314	-1.110000	0.06300	-0.176000	0.10722	0.009000	0.18154	0.001000	0.17328	0.035000	0.13729	0.0:0.4064:0.2195:0.3741	6.383	0.20749	855	0.34697	Patatin-like phospholipase domain|Patatin-like phospholipase domain;.	SAMM50|SAMM50|SAMM50|PNPLA3|PNPLA3	Adipose_Subcutaneous|Breast_Mammary_Tissue|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	SAMM50|SAMM50|SAMM50|PNPLA3|SAMM50	Artery_Tibial|Colon_Sigmoid|Prostate|Skin_Sun_Exposed_Lower_leg|Testis	rs738409	Benign	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.264854	0.257576	0.247283	0.321637	0.300000	0.258621	0.259146	0.257576	0.25	4385.03	115	chr22	43928847	.	C	G	4385.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.88;DP=415;ExcessHet=1.383;FS=5.549;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=0.182;SOR=0.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,32:91:99:0|1:43928847_C_G:1144,0,2361:43928847	3	0	3	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	0.3333	6331.96	137	chr22	43946236	.	A	G	6331.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.004;DP=579;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=1.8;SOR=0.684	GT:AD:DP:GQ:PL	0/1:58,70:128:99:1766,0,1570	2	0	4	0
chrX	133704278	133704278	A	-	intronic	GPC3	.	.	.	Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive;Wilms tumor, somatic	1	149	65	0	11	76	0.179063	.	.	.	1164583	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3076	0.2675	0.3111	0.3898	0.3058	0.3709	0.3238	0.1926	0.0006916	18	26028	rs374169314	0.1287	0.1448	0.1649	0.0007	0.1730	0.1280	0.1276	0.1670	0.1646	0.1118	0.1730	0.1608	0.1657	0.1779	0.1065	0.1249	0.1391	0.1169	0.0077	0.0090	0.0082	0.0061	0.0202	0.0072	0.0070	0.0188	0.0182	0.0202	0	0.0056	0.0043	0.0049	0.0071	0.0052	0.0013	0.0074	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	95.98	39	chrX	133704277	.	GA	G	95.98	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.357;DP=241;ExcessHet=1.383;FS=3.973;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.88;ReadPosRankSum=-0.12;SOR=0.389	GT:AD:DP:GQ:PL	0/1:26,6:32:56:56,0,575	3	0	3	0
chrX	154534419	154534419	G	A	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon6:c.C653T:p.S218F,G6PD:NM_001042351:exon6:c.C563T:p.S188F,G6PD:NM_001360016:exon6:c.C563T:p.S188F	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	1	1326	123	72	0	267	0.0914697	.	.	YES	25407	not_provided|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|Malaria,_susceptibility_to|G6PD_CAGLIARI|G6PD_MEDITERRANEAN|G6PD_SASSARI|G6PD_deficiency|Inborn_genetic_diseases|See_cases|G6PD_deficient_hemolytic_anemia|G6PD-related_disorder|Hemolytic_anemia,_G6PD_deficient_(favism)	MedGen:C3661900|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|.|.|.|MONDO:MONDO:0005775,MedGen:C2939465|MeSH:D030342,MedGen:C0950123|.|.|.|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.811	.	0.0007	0.000794702	0.0027	0.0004	0.0006	0	0	0.0011	0.0112	0.0160	0.0024838	384	154602	rs5030868	0.0015	0.0015	0.0011	0.0023	0.0435	0.0014	0.0014	0.0383	0.0363	0.0003	2.842e-05	0.0055	0	0	0.0435	0.0002	0.0032	0.0189	0.0007	0.0008	0.0006	0.0011	0.0149	0.0006	0.0005	0.0113	0.0100	0.0001	0	0	0.0060	0	0	0.0138	0.0002	0.0046	0.0149	0.017	0.52492	D	0.008	0.67890	D	0.022	0.18677	B	0.039	0.23607	B	0.000101	0.50451	D	0.177639	1	0.81001	D	3.42	0.91902	M	-4.87	0.98279	D	-4.22	0.75935	D	0.562	0.70615	0.957	0.96492	D	0.933	0.97805	D	10	0.012398928	0.00267	T	.	.	.	0.811	0.93892	.	.	0.989763325404	0.98964	0.927394258905308	0.92717	0.202134561341	0.22635	0.361571013927	0.19615	T	0.958441	0.99448	D	0.148364	0.69115	D	0.453964	0.93676	D	0.128705447749552	0.15261	T	0.953605	0.82399	D	0.90304965	0.91658	0.8944889	0.94585	0.9519563	0.96465	0.8714105	0.92964	-11.526	0.83968	D	0.6452008465600814	0.71653	0.361	0.69938	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.714215	0.53042	23.3	0.99560193252273865	0.71707	0.94225	0.60494	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999999995	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.65	5.65	0.86881	5.542000	0.66927	9.812000	0.81753	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.929	0.79431	80	0.96670	Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;.;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.025694	0.000000	0.007421	0.075099	0.000000	0.023529	0.013274	0.047368	0.08333	1137.83	35	chrX	154534419	.	G	A	1137.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.182;DP=266;ExcessHet=0;FS=1.718;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=1.23;SOR=0.767	GT:AD:DP:GQ:PL	0/1:46,43:89:99:1148,0,1151	5	0	1	0