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
ACVRL1	gene	ACVRL1	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Familial and multiple pulmonary arteriovenous malformations	Vascular lung disorders	Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Telangiectasia, hereditary hemorrhagic, type 2	600376"				8640225;16155196		False	3	100;0;0	0.57	True		ENSG00000139567	ENSG00000139567	HGNC:175													
ENG	gene	ENG	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Familial and multiple pulmonary arteriovenous malformations	Vascular lung disorders	Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Telangiectasia, hereditary hemorrhagic, type 1	187300"				7894484		False	3	100;0;0	0.57	True		ENSG00000106991	ENSG00000106991	HGNC:3349													
SMAD4	gene	SMAD4	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Familial and multiple pulmonary arteriovenous malformations	Vascular lung disorders	Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	175050"						False	3	100;0;0	0.57	True		ENSG00000141646	ENSG00000141646	HGNC:6770