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
EPHB4	gene	EPHB4	Expert Review Amber;Other	Vascular Malformations_Somatic		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Capillary malformation-arteriovenous malformation				31300548;30760892		False	2	0;100;0	1.14	True		ENSG00000196411	ENSG00000196411	HGNC:3395													
MET	gene	MET	Expert Review Amber;Literature	Vascular Malformations_Somatic		Cardiovascular disorders	Other	lymphovenous malformation;overgrowth				PMID: 32858245		False	2	0;100;0	1.14	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000105976	ENSG00000105976	HGNC:7029													
MTOR	gene	MTOR	Expert list;Expert Review Amber	Vascular Malformations_Somatic		Cardiovascular disorders	Other	Smith-Kingsmore syndrome 616638;Focal cortical dysplasia, type II, somatic 607341				29174369;28892148		False	2	0;100;0	1.14	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000198793	ENSG00000198793	HGNC:3942													
SOS1	gene	SOS1	Expert list;Expert Review Amber	Vascular Malformations_Somatic		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Noonan syndrome 4 610733				29907801		False	2	0;0;100	1.14	True		ENSG00000115904	ENSG00000115904	HGNC:11187