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
CCM2	gene	CCM2	Expert Review Amber;Royal Melbourne Hospital	Vascular Malformations_Germline		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cerebral cavernous malformations-2, MIM# 603284				21543988;14624391		False	2	0;100;0	1.12	True		ENSG00000136280	ENSG00000136280	HGNC:21708													
CDKN1C	gene	CDKN1C	Expert list;Expert Review Amber	Vascular Malformations_Germline		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Beckwith-Wiedemann syndrome 130650						False	2	0;50;50	1.12	True		ENSG00000129757	ENSG00000129757	HGNC:1786													
GPAA1	gene	GPAA1	Expert Review Amber;Literature	Vascular Malformations_Germline		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Vascular anomalies				32533362		False	2	0;100;0	1.12	True		ENSG00000197858	ENSG00000197858	HGNC:4446													
GPRASP1	gene	GPRASP1	Expert Review Amber;Literature	Vascular Malformations_Germline		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256				37787182		False	2	0;100;0	1.12	True		ENSG00000198932	ENSG00000198932	HGNC:24834													
KDR	gene	KDR	Expert list;Expert Review Amber	Vascular Malformations_Germline		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Hemangioma, capillary infantile, susceptibility to} 602089;Hemangioma, capillary infantile, somatic 602089;Cystic hygroma				30475086;7596435;24704994;18931684		False	2	0;100;0	1.12	True		ENSG00000128052	ENSG00000128052	HGNC:6307													
LRRC8C	gene	LRRC8C	Expert Review Amber;Literature	Vascular Malformations_Germline		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	TIMES syndrome MIM#621056				39623139		False	2	0;100;0	1.12	True	Other	ENSG00000171488	ENSG00000171488	HGNC:25075													
PDCD10	gene	PDCD10	Expert Review Amber;Royal Melbourne Hospital	Vascular Malformations_Germline		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cerebral cavernous malformations 3						False	2	0;100;0	1.12	True		ENSG00000114209	ENSG00000114209	HGNC:8761