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
CHRNA2	gene	CHRNA2	Expert Review Red;Literature	Familial Focal Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	610353				16826524		False	1	0;0;100	1.11	True		ENSG00000120903	ENSG00000120903	HGNC:1956													
SCN9A	gene	SCN9A	Other	Familial Focal Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epilepsy, generalized, with febrile seizures plus, type 7;Febrile seizures, familial, 3B				19763161		False	1	0;0;0	1.11	False		ENSG00000169432	ENSG00000169432	HGNC:10597													
TSC1	gene	TSC1	Expert Review Red;Illumina TruGenome Clinical Sequencing Services	Familial Focal Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Focal Cortical Dysplasia of Taylor 						False	1	0;0;0	1.11	True		ENSG00000165699	ENSG00000165699	HGNC:12362