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
ACTC1	gene	ACTC1	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Familial non syndromic congenital heart disease	Congenital heart disease	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Atrial septal defect 5,  612794  				17947298, 24461919 		False	2	0;100;0	1.90	False		ENSG00000159251	ENSG00000159251	HGNC:143													
CRELD1	gene	CRELD1	Expert Review Amber;Radboud University Medical Center, Nijmegen	Familial non syndromic congenital heart disease	Congenital heart disease	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	  Atrioventricular septal defect, partial, with heterotaxy syndrome  606217 				12632326, 21080147 		False	2	0;50;50	1.90	True		ENSG00000163703	ENSG00000163703	HGNC:14630													
GATA5	gene	GATA5	Expert Review Amber;Radboud University Medical Center, Nijmegen	Familial non syndromic congenital heart disease	Congenital heart disease	Cardiovascular disorders		Tetralogy of Fallot (Wei (2013) Int J Med Sci 10,34)				doi:10.7150/ijms.5270		False	2	0;100;0	1.90	False		ENSG00000130700	ENSG00000130700	HGNC:15802													
LEFTY2	gene	LEFTY2	Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Literature	Familial non syndromic congenital heart disease	Congenital heart disease	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Heterotaxy syndrome				10053005		False	2	0;100;0	1.90	True		ENSG00000143768	ENSG00000143768	HGNC:3122													
NOTCH1	gene	NOTCH1	Radboud University Medical Center, Nijmegen;UKGTN	Familial non syndromic congenital heart disease	Congenital heart disease	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Aortic valve disease 1,  109730 				16025100, 18593716, 5070860		False	2	100;0;0	1.90	False		ENSG00000148400	ENSG00000148400	HGNC:7881													
SHROOM3	gene	SHROOM3	Expert Review Amber;Radboud University Medical Center, Nijmegen	Familial non syndromic congenital heart disease	Congenital heart disease	Cardiovascular disorders	Unknown	Heterotaxy				21936905		False	2	0;100;0	1.90	True		ENSG00000138771	ENSG00000138771	HGNC:30422