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
KIT	gene	KIT	Expert List;Expert Review Green;NHS GMS	Inherited predisposition to GIST		Inherited cancer	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Gastrointestinal stromal tumor, familial, OMIM:606764;Gastrointestinal stromal tumor, MONDO:0011719						False	3	100;0;0	1.15	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000157404	ENSG00000157404	HGNC:6342													
PDGFRA	gene	PDGFRA	Expert List;Expert Review Green;NHS GMS	Inherited predisposition to GIST		Inherited cancer	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510;Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, MONDO:0008285				17087943;14699510;25975287;17566086		False	3	100;0;0	1.15	False		ENSG00000134853	ENSG00000134853	HGNC:8803													
SDHA	gene	SDHA	Expert List;Expert Review Green;NHS GMS	Inherited predisposition to GIST		Inherited cancer	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Gastrointestinal stromal tumours						False	3	100;0;0	1.15	False		ENSG00000073578	ENSG00000073578	HGNC:10680													
SDHB	gene	SDHB	Expert List;Expert Review Green;NHS GMS	Inherited predisposition to GIST		Inherited cancer	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Gastrointestinal stromal tumor, OMIM:606764;Paraganglioma and gastric stromal sarcoma, OMIM:606864;Carney-Stratakis syndrome, MONDO:0011740						False	3	100;0;0	1.15	False		ENSG00000117118	ENSG00000117118	HGNC:10681													
SDHC	gene	SDHC	Expert List;Expert Review Green;NHS GMS	Inherited predisposition to GIST		Inherited cancer	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Gastrointestinal stromal tumor, OMIM:606764;Paraganglioma and gastric stromal sarcoma, OMIM:606864;Carney-Stratakis syndrome, MONDO:0011740						False	3	100;0;0	1.15	False		ENSG00000143252	ENSG00000143252	HGNC:10682													
SDHD	gene	SDHD	Expert List;Expert Review Green;NHS GMS	Inherited predisposition to GIST		Inherited cancer	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Paraganglioma and gastric stromal sarcoma, OMIM:606864;Carney-Stratakis syndrome, MONDO:0011740						False	3	100;0;0	1.15	False		ENSG00000204370	ENSG00000204370	HGNC:10683													
NF1	gene	NF1	Expert Review Red;NHS GMS	Inherited predisposition to GIST		Inherited cancer	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurofibromatosis, type 1, OMIM:162200						False	1	100;0;0	1.15	False		ENSG00000196712	ENSG00000196712	HGNC:7765