Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name BAP1 gene BAP1 Expert list;Expert Review Green Melanoma pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tumor predisposition syndrome 1, OMIM:614327;{Uveal melanoma, susceptibility to, 2}, OMIM:606661 False 3 100;0;0 1.2 False ENSG00000163930 ENSG00000163930 HGNC:950 CDK4 gene CDK4 Expert list;Expert Review Green Melanoma pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Malignant Melanoma False 3 100;0;0 1.2 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000135446 ENSG00000135446 HGNC:1773 CDKN2A gene CDKN2A Expert list;Expert Review Green Melanoma pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Melanoma, cutaneous malignant, 2}, OMIM:155601;{Melanoma and neural system tumor syndrome}, OMIM:155755;{Melanoma-pancreatic cancer syndrome}, OMIM:606719 False 3 100;0;0 1.2 False ENSG00000147889 ENSG00000147889 HGNC:1787