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
ATR	gene	ATR	Expert Review Amber;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Cutaneous telangiectasia and cancer syndrome, familial, OMIM:614564				22341969		False	2	50;50;0	2.5	False		ENSG00000175054	ENSG00000175054	HGNC:882													
PTEN	gene	PTEN	Expert Review Amber;Other	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cowden syndrome 1, OMIM:158350;capillary venous malformations						False	2	0;0;0	2.5	False		ENSG00000171862	ENSG00000171862	HGNC:9588