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
BUB1B	gene	BUB1B	Expert Review Green;Literature	Familial rhabdomyosarcoma	Muscle and nerve	Tumour syndromes	BIALLELIC, autosomal or pseudoautosomal	Mosaic variegated aneuploidy syndrome 1, 257300						False	3	100;0;0	1.6	False		ENSG00000156970	ENSG00000156970	HGNC:1149													
CDKN1C	gene	CDKN1C	Expert Review Green;Literature	Familial rhabdomyosarcoma	Muscle and nerve	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Beckwith-Wiedemann syndrome, 130650						False	3	100;0;0	1.6	False		ENSG00000129757	ENSG00000129757	HGNC:1786													
HRAS	gene	HRAS	Expert Review Green;Literature	Familial rhabdomyosarcoma	Muscle and nerve	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Costello syndrome, 218040						False	3	100;0;0	1.6	False		ENSG00000174775	ENSG00000174775	HGNC:5173													
MLH1	gene	MLH1	Expert Review Green;Literature	Familial rhabdomyosarcoma	Muscle and nerve	Tumour syndromes	BIALLELIC, autosomal or pseudoautosomal	Mismatch repair cancer syndrome, 276300						False	3	100;0;0	1.6	False		ENSG00000076242	ENSG00000076242	HGNC:7127													
MSH2	gene	MSH2	Expert Review Green;Literature	Familial rhabdomyosarcoma	Muscle and nerve	Tumour syndromes	BIALLELIC, autosomal or pseudoautosomal	Mismatch repair cancer syndrome, 276300						False	3	100;0;0	1.6	False		ENSG00000095002	ENSG00000095002	HGNC:7325													
MSH6	gene	MSH6	Expert Review Green;Literature	Familial rhabdomyosarcoma	Muscle and nerve	Tumour syndromes	BIALLELIC, autosomal or pseudoautosomal	Mismatch repair cancer syndrome, 276300						False	3	100;0;0	1.6	False		ENSG00000116062	ENSG00000116062	HGNC:7329													
NBN	gene	NBN	Expert Review Green;Literature	Familial rhabdomyosarcoma	Muscle and nerve	Tumour syndromes	BIALLELIC, autosomal or pseudoautosomal	Nijmegen breakage syndrome, 251260						False	3	100;0;0	1.6	False		ENSG00000104320	ENSG00000104320	HGNC:7652													
NF1	gene	NF1	Expert Review Green;Literature	Familial rhabdomyosarcoma	Muscle and nerve	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurofibromatosis, type 1 162200						False	3	100;0;0	1.6	False		ENSG00000196712	ENSG00000196712	HGNC:7765													
PMS2	gene	PMS2	Expert Review Green;Literature	Familial rhabdomyosarcoma	Muscle and nerve	Tumour syndromes	BIALLELIC, autosomal or pseudoautosomal	Mismatch repair cancer syndrome, 276300						False	3	100;0;0	1.6	False		ENSG00000122512	ENSG00000122512	HGNC:9122													
RB1	gene	RB1	Expert Review Green;Literature	Familial rhabdomyosarcoma	Muscle and nerve	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Retinoblastoma, 180200						False	3	100;0;0	1.6	False		ENSG00000139687	ENSG00000139687	HGNC:9884													
TP53	gene	TP53	Eligibility statement prior genetic testing;Expert list;Expert Review Green	Familial rhabdomyosarcoma	Muscle and nerve	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Li-Fraumeni syndrome, 151623						False	3	100;0;0	1.6	False		ENSG00000141510	ENSG00000141510	HGNC:11998													
CREBBP	gene	CREBBP	Expert Review Red;Literature	Familial rhabdomyosarcoma	Muscle and nerve	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Rubinstein-Taybi syndrome 1, 180849						False	1	0;0;100	1.6	False		ENSG00000005339	ENSG00000005339	HGNC:2348													
DICER1	gene	DICER1	Expert Review Red;Literature	Familial rhabdomyosarcoma	Muscle and nerve	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pleuropulmonary blastoma, 601200;Rhabdomyosarcoma, embryonal, 2, 180295						False	1	0;0;100	1.6	False		ENSG00000100697	ENSG00000100697	HGNC:17098													
FOXO1	gene	FOXO1	Expert Review Red;Radboud University Medical Center, Nijmegen	Familial rhabdomyosarcoma	Muscle and nerve	Tumour syndromes	Other - please specifiy in evaluation comments	Rhabdomyosarcoma, alveolar, 268220				25768946		False	1	0;0;100	1.6	False		ENSG00000150907	ENSG00000150907	HGNC:3819													
KRAS	gene	KRAS	Expert Review Red;Literature	Familial rhabdomyosarcoma	Muscle and nerve	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Nevus, Epidermal 162900						False	1	0;0;100	1.6	False		ENSG00000133703	ENSG00000133703	HGNC:6407													
PAX3	gene	PAX3	Expert Review Red;Radboud University Medical Center, Nijmegen	Familial rhabdomyosarcoma	Muscle and nerve	Tumour syndromes	Other - please specifiy in evaluation comments	Rhabdomyosarcoma, alveolar, 268220				25768946		False	1	0;0;100	1.6	False		ENSG00000135903	ENSG00000135903	HGNC:8617													
PAX7	gene	PAX7	Expert Review Red;Radboud University Medical Center, Nijmegen	Familial rhabdomyosarcoma	Muscle and nerve	Tumour syndromes	Other - please specifiy in evaluation comments	Rhabdomyosarcoma 2, alveolar, 268220				25768946		False	1	0;0;100	1.6	False		ENSG00000009709	ENSG00000009709	HGNC:8621													
WT1	gene	WT1	Expert Review Red;Literature	Familial rhabdomyosarcoma	Muscle and nerve	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Wilms tumour 1, 194070						False	1	0;0;100	1.6	False		ENSG00000184937	ENSG00000184937	HGNC:12796