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
ACD	gene	ACD	Expert Review Amber;NHS GMS	Familial melanoma		Inherited cancer	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	2	0;100;0	2.15	False		ENSG00000102977	ENSG00000102977	HGNC:25070													
BRCA2	gene	BRCA2	Expert Review Amber;NHS GMS	Familial melanoma		Inherited cancer	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	2	0;100;0	2.15	False		ENSG00000139618	ENSG00000139618	HGNC:1101													
CHEK2	gene	CHEK2	Expert Review Amber;Literature	Familial melanoma		Inherited cancer	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265;mucosal melanoma, MONDO:0000544;uveal melanoma, MONDO:0006486				32531112;40283643;42177185		False	2	0;100;0	2.15	False		ENSG00000183765	ENSG00000183765	HGNC:16627													
MITF	gene	MITF	Expert Review Amber;Literature	Familial melanoma		Inherited cancer	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Melanoma, cutaneous malignant, susceptibility to, 8}, OMIM:614456;melanoma, cutaneous malignant, susceptibility to, 8, MONDO:0013759				22012259;22080950;42177185		False	2	0;100;0	2.15	False		ENSG00000187098	ENSG00000187098	HGNC:7105													
TERF2IP	gene	TERF2IP	Expert Review Amber;NHS GMS	Familial melanoma		Inherited cancer								False	2	0;100;0	2.15	False		ENSG00000166848	ENSG00000166848	HGNC:19246													
TERT	gene	TERT	Expert List;Expert Review Amber;NHS GMS	Familial melanoma		Inherited cancer	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Melanoma, cutaneous malignant, 9}, OMIM:615134				23348503;23348506;35912549		False	2	50;50;0	2.15	False		ENSG00000164362	ENSG00000164362	HGNC:11730