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 Review Green;SA Pathology	Melanoma		Cancer Predisposition	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Melanoma, MONDO:0005105;BAP1-related tumor predisposition syndrome, MONDO:0013692;BAP1-tumour predisposition syndrome, MIM#614327			Melanoma;HP:0002861			False	3	100;0;0	1.1	True		ENSG00000163930	ENSG00000163930	HGNC:950													
CDK4	gene	CDK4	Expert Review Green;SA Pathology	Melanoma		Cancer Predisposition	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Melanoma, MONDO:0005105;CDK4 linked melanoma, MONDO:0022623;Melanoma cutaneous malignant susceptibility to 3, MONDO:0012183;Melanoma, cutaneous malignant, 3, MIM#609048			Melanoma;HP:0002861			False	3	100;0;0	1.1	True	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 Review Green;SA Pathology	Melanoma		Cancer Predisposition	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Melanoma, MONDO:0005105;Melanoma cutaneous malignant susceptibility to 2, MONDO:0007964;Melanoma-pancreatic cancer syndrome, MONDO:0011713;Melanoma and neural system tumor syndrome, MONDO:0007967;Melanoma, cutaneous malignant, 2, MIM#155601;Melanoma-pancreatic cancer syndrome, MIM#606719;Melanoma and neural system tumor syndrome, MIM#155755			Melanoma;HP:0002861			False	3	100;0;0	1.1	True		ENSG00000147889	ENSG00000147889	HGNC:1787													
POT1	gene	POT1	Expert Review;Expert Review Green;Literature	Melanoma		Cancer Predisposition	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Melanoma, MONDO:0005105;Tumor predisposition syndrome 3, MONDO:0014368;Melanoma, cutaneous malignant, MIM#606478			Melanoma;HP:0002861	PMID: 24686849;30586141;24686846;38724174		False	3	100;0;0	1.1	True		ENSG00000128513	ENSG00000128513	HGNC:17284