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
ACTA2	gene	ACTA2	Expert Review Red;Melbourne Genomics Health Alliance	Additional findings_Adult		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Aortic aneurysm, familial thoracic 6, MIM# 611788						False	1	100;0;0	0.169	True		ENSG00000107796	ENSG00000107796	HGNC:130													
Katrina	gene	Katrina	Other	Additional findings_Adult		Screening	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal							False	1	0;0;0	0.169	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000137185	ENSG00000137185	null													
KCNA6	gene	KCNA6	Other	Additional findings_Adult		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted							False	1	0;0;0	0.169	False		ENSG00000151079	ENSG00000151079	HGNC:6225