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
AKT1	gene	AKT1	Expert list;Expert Review Red	Vascular Malformations_Germline		Cardiovascular disorders	Other	Proteus syndrome, somatic 176920;Cowden syndrome 6 615109				23246288		False	1	100;0;0	1.12	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000142208	ENSG00000142208	HGNC:391													
ARL6IP6	gene	ARL6IP6	Expert Review Red;Other	Vascular Malformations_Germline		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cutis marmorata telangiectatica congenita				31142202		False	1	0;0;100	1.12	True		ENSG00000177917	ENSG00000177917	HGNC:24048													
ATR	gene	ATR	Expert list;Expert Review Red	Vascular Malformations_Germline		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Cutaneous telangiectasia and cancer syndrome, familial, MIM#	614564"				22341969		False	1	0;0;100	1.12	True		ENSG00000175054	ENSG00000175054	HGNC:882													
BRAF	gene	BRAF	Expert list;Expert Review Red	Vascular Malformations_Germline		Cardiovascular disorders	Other	Sporadic vascular malformations				29316280;29461977;30544177		False	1	100;0;0	1.12	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000157764	ENSG00000157764	HGNC:1097													
GNA11	gene	GNA11	Expert Review Red;Royal Melbourne Hospital	Vascular Malformations_Germline		Cardiovascular disorders	Other	Somatic hemangioma				30677207		False	1	100;0;0	1.12	True	Other	ENSG00000088256	ENSG00000088256	HGNC:4379													
GNA14	gene	GNA14	Expert list;Expert Review Red	Vascular Malformations_Germline		Cardiovascular disorders	Other	Tufted angioma;Anastomosing hemangioma;vascular tumours				31423605;31707589;27476652		False	1	100;0;0	1.12	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000156049	ENSG00000156049	HGNC:4382													
GNAQ	gene	GNAQ	Expert list;Expert Review Red	Vascular Malformations_Germline		Cardiovascular disorders	Other	Sturge-Weber syndrome, somatic, mosaic 185300;Capillary malformations, congenital, 1, somatic, mosaic 163000;Phacomatosis pigmentovascularis				30920161		False	1	100;0;0	1.12	True		ENSG00000156052	ENSG00000156052	HGNC:4390													
HRAS	gene	HRAS	Expert list;Expert Review Red	Vascular Malformations_Germline		Cardiovascular disorders	Other	Extracranial arteriovenous malformations;Vascular malformation/overgrowth syndromes				31637524;31160609;30208313		False	1	100;0;0	1.12	True	Other	ENSG00000174775	ENSG00000174775	HGNC:5173													
KRAS	gene	KRAS	Expert list;Expert Review Red	Vascular Malformations_Germline		Cardiovascular disorders	Other	Arteriovenous malformation of the brain, somatic 108010;Vascular malformation				30677207;30544177;31160609		False	1	100;0;0	1.12	True	Other	ENSG00000133703	ENSG00000133703	HGNC:6407													
MAP2K1	gene	MAP2K1	Expert list;Expert Review Red	Vascular Malformations_Germline		Cardiovascular disorders	Other	Intramuscular fast-flow vascular anomaly;Arteriovenous malformation				31486960;29461977;28190454		False	1	100;0;0	1.12	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000169032	ENSG00000169032	HGNC:6840													
MAP3K3	gene	MAP3K3	Expert list;Expert Review Red	Vascular Malformations_Germline		Cardiovascular disorders	Other	Verrucous venous malformation				10700190;25728774		False	1	100;0;0	1.12	True		ENSG00000198909	ENSG00000198909	HGNC:6855													
MTOR	gene	MTOR	Expert list;Expert Review Red	Vascular Malformations_Germline		Cardiovascular disorders	Other	Smith-Kingsmore syndrome 616638;Focal cortical dysplasia, type II, somatic 607341				28892148;29174369		False	1	0;100;0	1.12	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													
NRAS	gene	NRAS	Expert list;Expert Review Red	Vascular Malformations_Germline		Cardiovascular disorders	Other	Kaposiform lymphangiomatosis;Sporadic vascular malformation				30542204;29461977		False	1	100;0;0	1.12	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000213281	ENSG00000213281	HGNC:7989													
PIK3R1	gene	PIK3R1	Expert list;Expert Review Red	Vascular Malformations_Germline		Cardiovascular disorders	Other	capillary and lymphatic malformation				29174369		False	1	0;0;100	1.12	True		ENSG00000145675	ENSG00000145675	HGNC:8979													
PIK3R2	gene	PIK3R2	Expert list;Expert Review Red	Vascular Malformations_Germline		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387				22729224;28502725		False	1	0;0;100	1.12	True		ENSG00000105647	ENSG00000105647	HGNC:8980													
PTPN11	gene	PTPN11	Expert list;Expert Review Red	Vascular Malformations_Germline		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	LEOPARD syndrome 1 151100;Noonan syndrome 1 163950;cystic hygroma				27193571;24939587;29907801		False	1	0;0;100	1.12	True		ENSG00000179295	ENSG00000179295	HGNC:9644													
PTPN14	gene	PTPN14	Expert list;Expert Review Red	Vascular Malformations_Germline		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Choanal atresia and lymphedema 613611				22233626;29932521		False	1	0;0;100	1.12	True		ENSG00000152104	ENSG00000152104	HGNC:9647													
SOS1	gene	SOS1	Expert list;Expert Review Red	Vascular Malformations_Germline		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Noonan syndrome 4 610733				29907801		False	1	0;0;100	1.12	True		ENSG00000115904	ENSG00000115904	HGNC:11187