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
AR	gene	AR	Expert Review Red;Radboud University Medical Center, Nijmegen	Familial breast cancer	Breast and endocrine	Tumour syndromes		Androgen insensitivity, partial, with or without breast cancer, OMIM:312300						False	1	0;0;100	1.28	True		ENSG00000169083	ENSG00000169083	HGNC:644													
BRIP1	gene	BRIP1	Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Familial breast cancer	Breast and endocrine	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Breast cancer, early-onset, susceptibility to}, OMIM:114480						False	1	0;0;100	1.28	True		ENSG00000136492	ENSG00000136492	HGNC:20473													
EPCAM	gene	EPCAM	Emory Genetics Laboratory	Familial breast cancer	Breast and endocrine	Tumour syndromes		Breast and Ovarian Cancer						False	1	0;0;100	1.28	False		ENSG00000119888	ENSG00000119888	HGNC:11529													
ESR1	gene	ESR1	Radboud University Medical Center, Nijmegen	Familial breast cancer	Breast and endocrine	Tumour syndromes		Estrogen resistance, 615363; {HDL response to hormone replacement, augmented}; {Migraine, susceptibility to}, 157300; {Atherosclerosis, susceptibility to}; {Myocardial infarction, susceptibility to}, 608446; {Breast cancer}, 114480 (1)						False	1	0;0;100	1.28	False		ENSG00000091831	ENSG00000091831	HGNC:3467													
MLH1	gene	MLH1	Emory Genetics Laboratory	Familial breast cancer	Breast and endocrine	Tumour syndromes		Breast and Ovarian Cancer						False	1	0;0;100	1.28	False		ENSG00000076242	ENSG00000076242	HGNC:7127													
MSH2	gene	MSH2	Emory Genetics Laboratory	Familial breast cancer	Breast and endocrine	Tumour syndromes		Breast and Ovarian Cancer						False	1	0;0;100	1.28	False		ENSG00000095002	ENSG00000095002	HGNC:7325													
MSH6	gene	MSH6	Emory Genetics Laboratory	Familial breast cancer	Breast and endocrine	Tumour syndromes		Breast and Ovarian Cancer						False	1	0;0;100	1.28	False		ENSG00000116062	ENSG00000116062	HGNC:7329													
MUTYH	gene	MUTYH	Emory Genetics Laboratory	Familial breast cancer	Breast and endocrine	Tumour syndromes		Breast and Ovarian Cancer						False	1	0;0;100	1.28	False		ENSG00000132781	ENSG00000132781	HGNC:7527													
NBN	gene	NBN	Emory Genetics Laboratory	Familial breast cancer	Breast and endocrine	Tumour syndromes		Breast and Ovarian Cancer						False	1	0;0;100	1.28	False		ENSG00000104320	ENSG00000104320	HGNC:7652													
PMS2	gene	PMS2	Emory Genetics Laboratory	Familial breast cancer	Breast and endocrine	Tumour syndromes		Breast and Ovarian Cancer						False	1	0;0;100	1.28	False		ENSG00000122512	ENSG00000122512	HGNC:9122													
PPM1D	gene	PPM1D	Radboud University Medical Center, Nijmegen	Familial breast cancer	Breast and endocrine	Tumour syndromes		Breast cancer, 114480						False	1	0;0;100	1.28	False		ENSG00000170836	ENSG00000170836	HGNC:9277													
RAD54L	gene	RAD54L	Radboud University Medical Center, Nijmegen	Familial breast cancer	Breast and endocrine	Tumour syndromes		{Breast cancer, invasive ductal}, 114480; Lymphoma, non-Hodgkin,somatic, 605027; Adenocarcinoma, colonic, somatic						False	1	0;0;100	1.28	False		ENSG00000085999	ENSG00000085999	HGNC:9826													
RRAS2	gene	RRAS2	Radboud University Medical Center, Nijmegen	Familial breast cancer	Breast and endocrine	Tumour syndromes	Unknown	Ovarian carcinoma						False	1	0;0;100	1.28	False		ENSG00000133818	ENSG00000133818	HGNC:17271													
XRCC2	gene	XRCC2	Radboud University Medical Center, Nijmegen	Familial breast cancer	Breast and endocrine	Tumour syndromes		No OMIM phenotype; Breast cancer (Park (2012) Am J Hum Genet 90, 734)						False	1	0;0;100	1.28	False		ENSG00000196584	ENSG00000196584	HGNC:12829