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
JAK2	gene	JAK2	Expert Review Green;NHS GMS	Thrombocythaemia		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Thrombocythemia 3, 614521						False	3	100;0;0	1.12	False		ENSG00000096968	ENSG00000096968	HGNC:6192													
MPL	gene	MPL	Expert Review Green;NHS GMS	Thrombocythaemia		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Thrombocythemia 2, OMIM:601977						False	3	0;0;0	1.12	False		ENSG00000117400	ENSG00000117400	HGNC:7217													
SH2B3	gene	SH2B3	Expert Review Green;NHS GMS	Thrombocythaemia		Haematology	BIALLELIC, autosomal or pseudoautosomal	Thrombocythemia, somatic, OMIM:187950				28484264;27237057;23908464;40481232;41325922		False	3	75;0;25	1.12	False		ENSG00000111252	ENSG00000111252	HGNC:29605													
THPO	gene	THPO	Expert Review Green;NHS GMS	Thrombocythaemia		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Thrombocythemia 1, 187950						False	3	0;0;0	1.12	False		ENSG00000090534	ENSG00000090534	HGNC:11795