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
CREBBP	gene	CREBBP	Expert Review Red;Literature;NHS GMS	Sarcoma susceptibility		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Rubinstein-Taybi syndrome 1, OMIM:180849;Rhabdomyosarcoma (disease), MONDO:0005212						False	1	0;0;100	1.82	False		ENSG00000005339	ENSG00000005339	HGNC:2348													
DICER1	gene	DICER1	Expert Review Red;Literature;NHS GMS	Sarcoma susceptibility		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pleuropulmonary blastoma, OMIM:601200;Pleuropulmonary blastoma, MONDO:0011014;Rhabdomyosarcoma, embryonal, 2, OMIM:180295;Embryonal rhabdomyosarcoma (disease), MONDO:0009993				30989777;21882293		False	1	0;0;100	1.82	False		ENSG00000100697	ENSG00000100697	HGNC:17098													
FOXO1	gene	FOXO1	Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen	Sarcoma susceptibility		Cancer susceptibility	Other - please specifiy in evaluation comments	Rhabdomyosarcoma, alveolar, OMIM:268220				25768946		False	1	0;0;100	1.82	False		ENSG00000150907	ENSG00000150907	HGNC:3819													
KRAS	gene	KRAS	Expert Review Red;Literature;NHS GMS	Sarcoma susceptibility		Cancer susceptibility	Other	Nevus, Epidermal, OMIM:162900;Rhabdomyosarcoma (disease), MONDO:0005212				20805368		False	1	0;0;100	1.82	False		ENSG00000133703	ENSG00000133703	HGNC:6407													
PAX3	gene	PAX3	Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen	Sarcoma susceptibility		Cancer susceptibility	Other - please specifiy in evaluation comments	Rhabdomyosarcoma, alveolar, OMIM:268220				25768946		False	1	0;0;100	1.82	False		ENSG00000135903	ENSG00000135903	HGNC:8617													
PAX7	gene	PAX7	Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen	Sarcoma susceptibility		Cancer susceptibility	Other - please specifiy in evaluation comments	Rhabdomyosarcoma 2, alveolar, OMIM:268220				25768946		False	1	0;0;100	1.82	False		ENSG00000009709	ENSG00000009709	HGNC:8621													
PDGFRA	gene	PDGFRA	Expert list;Expert Review Red;NHS GMS	Sarcoma susceptibility		Cancer susceptibility	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				26297068;14699510;17566086;25975287		False	1	67;0;33	1.82	False		ENSG00000134853	ENSG00000134853	HGNC:8803													
TERT	gene	TERT	Expert Review Red;Literature;Other	Sarcoma susceptibility		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Solitary Fibrous Tumour				24726063;27562490;29985536;31529158;31321477;38392213;38357190		False	1	100;0;0	1.82	False		ENSG00000164362	ENSG00000164362	HGNC:11730													
TNFRSF11A	gene	TNFRSF11A	Expert list;Expert Review Red;NHS GMS	Sarcoma susceptibility		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Paget disease of bone 2, early-onset}, OMIM:602080;Osteosarcoma (disease), MONDO:0009807				15758393;12673693;11351498		False	1	0;0;0	1.82	False		ENSG00000141655	ENSG00000141655	HGNC:11908													
WT1	gene	WT1	Expert Review Red;Literature;NHS GMS	Sarcoma susceptibility		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Wilms tumour 1, OMIM:194070;Rhabdomyosarcoma (disease), MONDO:0005212						False	1	0;0;100	1.82	False		ENSG00000184937	ENSG00000184937	HGNC:12796