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
BRCA1	gene	BRCA1	Expert list;Expert Review Green;NHS GMS	Breast cancer pertinent cancer susceptibility		Cancer susceptibility	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	{Breast-ovarian cancer, familial, 1}, OMIM:604370						False	3	100;0;0	2.17	False		ENSG00000012048	ENSG00000012048	HGNC:1100													
BRCA2	gene	BRCA2	Expert list;Expert Review Green	Breast cancer pertinent cancer susceptibility		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Breast-ovarian cancer, familial, 2}, OMIM:612555;{Breast cancer, male, susceptibility to}, OMIM:114480						False	3	100;0;0	2.17	False		ENSG00000139618	ENSG00000139618	HGNC:1101													
PALB2	gene	PALB2	Expert list;Expert Review Green	Breast cancer pertinent cancer susceptibility		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Breast cancer						False	3	100;0;0	2.17	False		ENSG00000083093	ENSG00000083093	HGNC:26144													
TP53	gene	TP53	Expert list;Expert Review Green	Breast cancer pertinent cancer susceptibility		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Breast cancer						False	3	100;0;0	2.17	False		ENSG00000141510	ENSG00000141510	HGNC:11998													
ATRIP	gene	ATRIP	Expert Review Amber;Literature	Breast cancer pertinent cancer susceptibility		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hereditary breast cancer				36977412;37592023		False	2	67;33;0	2.17	False		ENSG00000164053	ENSG00000164053	HGNC:33499													
CDH1	gene	CDH1	Expert Review Amber;Literature	Breast cancer pertinent cancer susceptibility		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, OMIM:137215				15235021;20591882;23709761;25979631;36436516		False	2	33;67;0	2.17	False		ENSG00000039068	ENSG00000039068	HGNC:1748													
PTEN	gene	PTEN	Expert list;Expert Review Amber	Breast cancer pertinent cancer susceptibility		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Breast cancer						False	2	100;0;0	2.17	False		ENSG00000171862	ENSG00000171862	HGNC:9588													
