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
ATM	gene	ATM	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Familial and multiple pulmonary arteriovenous malformations	Vascular lung disorders	Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Ataxia-telangiectasia, 208900				6417247;2666519;2212727		False	1	0;0;100	0.57	True		ENSG00000149311	ENSG00000149311	HGNC:795													
ATR	gene	ATR	Expert Review Red;Radboud University Medical Center, Nijmegen	Familial and multiple pulmonary arteriovenous malformations	Vascular lung disorders	Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Seckel syndrome 1, 210600; Cutaneous telangiectasia and cancer syndrome, familial, 614564				6417247;2666519;2212727		False	1	0;0;100	0.57	True		ENSG00000175054	ENSG00000175054	HGNC:882													
FOXF1	gene	FOXF1	Expert Review Red;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	"Alveolar capillary dysplasia with misalignment of pulmonary veins	265380"				27071622		False	1	0;0;100	0.57	True		ENSG00000103241	ENSG00000103241	HGNC:3809													
GDF2	gene	GDF2	Emory Genetics Laboratory;Expert Review Red;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 5 615506				23972370		False	1	0;0;100	0.57	True		ENSG00000128802	ENSG00000263761	HGNC:4217													
KRIT1	gene	KRIT1	Emory Genetics Laboratory;Expert Review Red;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	"Cavernous malformations of CNS and retina	116860;Cerebral cavernous malformations-1 116860;Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860"						False	1	0;0;100	0.57	True		ENSG00000001631	ENSG00000001631	HGNC:1573													
MRE11	gene	MRE11	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Familial and multiple pulmonary arteriovenous malformations	Vascular lung disorders	Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Ataxia-telangiectasia-like disorder, 604391				6417247;2666519;2212727		False	1	0;0;100	0.57	True		ENSG00000020922	ENSG00000020922	HGNC:7230													
PIK3CA	gene	PIK3CA	Expert Review Red;UKGTN	Familial and multiple pulmonary arteriovenous malformations	Vascular lung disorders	Respiratory disorders		Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome				27030594;27030595		False	1	0;0;100	0.57	True		ENSG00000121879	ENSG00000121879	HGNC:8975													
RASA1	gene	RASA1	Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services	Familial and multiple pulmonary arteriovenous malformations	Vascular lung disorders	Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Capillary malformation-arteriovenous malformation	608354"						False	1	0;0;100	0.57	True		ENSG00000145715	ENSG00000145715	HGNC:9871													
SOX18	gene	SOX18	Radboud University Medical Center, Nijmegen	Familial and multiple pulmonary arteriovenous malformations	Vascular lung disorders	Respiratory disorders		Hypotrichosis-lymphedema-telangiectasia syndrome, 607823						False	1	0;0;100	0.57	False		ENSG00000203883	ENSG00000203883	HGNC:11194													
TEK	gene	TEK	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Familial and multiple pulmonary arteriovenous malformations	Vascular lung disorders	Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Venous malformations, multiple cutaneous and mucosal 600195				27519652		False	1	0;0;100	0.57	True		ENSG00000120156	ENSG00000120156	HGNC:11724