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
APC	gene	APC	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN	Peutz-Jeghers syndrome	GI tract	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Adenomatous polyposis coli	175100;Brain tumor-polyposis syndrome 2	175100;Gardner syndrome	175100;Desmoid disease, hereditary	135290"						False	3	0;0;0	0.21	True		ENSG00000134982	ENSG00000134982	HGNC:583													
BMPR1A	gene	BMPR1A	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Peutz-Jeghers syndrome	GI tract	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polyposis, juvenile intestinal, 174900;Polyposis syndrome, hereditary mixed, 2, 610069;Juvenile polyposis syndrome, infantile form, 174900						False	3	0;0;0	0.21	True		ENSG00000107779	ENSG00000107779	HGNC:1076													
MLH1	gene	MLH1	Emory Genetics Laboratory;Expert list;Expert Review Green	Peutz-Jeghers syndrome	GI tract	Tumour syndromes	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	"Mismatch repair cancer syndrome	276300 AR;Muir-Torre syndrome	158320 AD"				24362816		False	3	0;0;0	0.21	True		ENSG00000076242	ENSG00000076242	HGNC:7127													
MSH2	gene	MSH2	Emory Genetics Laboratory;Expert list;Expert Review Green	Peutz-Jeghers syndrome	GI tract	Tumour syndromes	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer				Thompson BA, Spurdle AB, Plazzer J-P, Greenblatt M, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capella G, du Sart D, Fabre A, Farrell MP, Farrington S, Frayling IM, et al., on behalf of InSiGHT, Macrae F, Genuardi M. (2014) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics 46:107-115;doi:10.1038/ng.2854.		False	3	0;0;0	0.21	False		ENSG00000095002	ENSG00000095002	HGNC:7325													
MSH6	gene	MSH6	Emory Genetics Laboratory;Expert list;Expert Review Green	Peutz-Jeghers syndrome	GI tract	Tumour syndromes	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer				Thompson BA, Spurdle AB, Plazzer J-P, Greenblatt M, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capella G, du Sart D, Fabre A, Farrell MP, Farrington S, Frayling IM, et al., on behalf of InSiGHT, Macrae F, Genuardi M. (2014) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics 46:107-115;doi:10.1038/ng.2854.		False	3	0;0;0	0.21	False		ENSG00000116062	ENSG00000116062	HGNC:7329													
MUTYH	gene	MUTYH	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;UKGTN	Peutz-Jeghers syndrome	GI tract	Tumour syndromes	BIALLELIC, autosomal or pseudoautosomal	Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer;MYH-Associated Polyposis;MUTYH-Associated Polyposis;Familial Adenomatous Polyposis, 2;adenomatous polyposis				Sampson JR, Dolwani S, Jones S, Eccles D, Ellis A, Evans DG, Frayling I, Pigatto F, Jordan S, Mak T, Maher ER, Maynard J, Shaw J, Cheadle JP. (2003) Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 362(9377):39-41.		False	3	0;0;0	0.21	False		ENSG00000132781	ENSG00000132781	HGNC:7527													
NTHL1	gene	NTHL1	Expert Review;Expert Review Green;Literature	Peutz-Jeghers syndrome	GI tract	Tumour syndromes	BIALLELIC, autosomal or pseudoautosomal	Colorectal cancer; multiple adenomas;Multiple colorectal adenomas; colorectal cancer				Weren, Robbert DA, et al. A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. Nature genetics 47.6 (2015): 668-671.		False	3	0;0;0	0.21	False		ENSG00000065057	ENSG00000065057	HGNC:8028													
PMS2	gene	PMS2	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green	Peutz-Jeghers syndrome	GI tract	Tumour syndromes	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer				Thompson BA, Spurdle AB, Plazzer J-P, Greenblatt M, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capella G, du Sart D, Fabre A, Farrell MP, Farrington S, Frayling IM, et al., on behalf of InSiGHT, Macrae F, Genuardi M. (2014) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics 46:107-115;doi:10.1038/ng.2854.		False	3	0;0;0	0.21	False		ENSG00000122512	ENSG00000122512	HGNC:9122													
POLD1	gene	POLD1	Expert list;Expert Review;Expert Review Green	Peutz-Jeghers syndrome	GI tract	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial colorectal cancer;Familial polyposis and colon cancer				PMID: 26133394		False	3	0;0;0	0.21	False		ENSG00000062822	ENSG00000062822	HGNC:9175													
POLE	gene	POLE	Expert list;Expert Review;Expert Review Green	Peutz-Jeghers syndrome	GI tract	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial colorectal polyposis and cancer;Familial polyposis and colon cancer				PMID: 26133394		False	3	0;0;0	0.21	False		ENSG00000177084	ENSG00000177084	HGNC:9177													
PTEN	gene	PTEN	Emory Genetics Laboratory;Expert Review;Expert Review Green	Peutz-Jeghers syndrome	GI tract	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer;Bowel polyps found in majority of patients with PTEN-related disorders						False	3	0;0;0	0.21	False		ENSG00000171862	ENSG00000171862	HGNC:9588													
SMAD4	gene	SMAD4	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;UKGTN	Peutz-Jeghers syndrome	GI tract	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Gastrointestinal and Colorectal Cancer;High Risk Colorectal Cancer;juvenile polyposis;Pancreatic cancer; Polyposis, juvenile intestinal, 174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Myhre syndrome, 139210;Juvenile Polyposis Syndrome				Chow, E., & Macrae, F. A review of juvenile polyposis syndrome. Journal of Gastroenterology and Hepatology 2005;20: 1634-1640.		False	3	0;0;0	0.21	False		ENSG00000141646	ENSG00000141646	HGNC:6770													
STK11	gene	STK11	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Other	Peutz-Jeghers syndrome	GI tract	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Peutz-Jeghers syndrome 175200						False	3	0;0;0	0.21	True		ENSG00000118046	ENSG00000118046	HGNC:11389