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
AFF3_FRA2A_CGG	str	AFF3	Expert Review Amber;Literature	Repeat Disorders			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental delay				24763282;39313615;33510257		False	2	0;100;0	0.272	True		ENSG00000144218	ENSG00000144218	HGNC:6473	2	100721262	100721285	100104800	100104823	CGG	20	300					
DIP2B_FRA12A_CGG	str	DIP2B	Expert Review Amber;Literature	Repeat Disorders			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	intellectual disability, FRA12A type MONDO:0007634				17236128;33510257;39854091;41028987		False	2	0;100;0	0.272	True		ENSG00000066084	ENSG00000066084	HGNC:29284	12	50898787	50898807	50505004	50505024	CGG	23	280					
DMD_DMD_GAA	str	DMD	Expert Review Amber;Literature	Repeat Disorders			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Duchenne muscular dystrophy MIM#310200;Becker muscular dystrophy MIM#300376				27417533;36048237		False	2	0;100;0	0.272	True		ENSG00000198947	ENSG00000198947	HGNC:2928	X	31302674	31302722	31284557	31284605	GAA	33	59					
NAXE_NME_GGGCC	str	NAXE	Expert Review Amber;Literature	Repeat Disorders			BIALLELIC, autosomal or pseudoautosomal	encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0020781				39455596		False	2	0;100;0	0.272	True		ENSG00000163382	ENSG00000163382	HGNC:18453	1	156561557	156561575	156591765	156591783	GGGCC	7	200					
RAPGEF2_FAME7_TTTCA	str	RAPGEF2	Expert Review Amber;Literature	Repeat Disorders			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epilepsy, familial adult myoclonic, 7 MIM#618075				29507423;30351492;33791773		False	2	0;100;0	0.272	True		ENSG00000109756	ENSG00000109756	HGNC:16854	4	160263679	160263768	159342527	159342616	TTTCA	0	1					
RUNX2_CCD_GCN	str	RUNX2	Expert Review Amber;Expert list	Repeat Disorders			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cleidocranial dysplasia MIM#119600				9182765;33811808;20560987;26220009;25852448		False	2	0;100;0	0.272	True		ENSG00000124813	ENSG00000124813	HGNC:10472	6	45390488	45390538	45422751	45422801	GCN	18	20					
THAP11_SCA51_CAG	str	THAP11	Expert Review Amber;Other	Repeat Disorders			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Spinocerebellar ataxia 51 MONDO:0975800				15368101;24677642;34165550;38113319;40459937;39651830;37148549		False	2	0;100;0	0.272	True		ENSG00000168286	ENSG00000168286	HGNC:23194	16	67876766	67876853	67842863	67842950	CAG	39	47					
ZNF713_FRA7A_CGG	str	ZNF713	Expert Review Amber;Literature	Repeat Disorders			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Autism spectrum disorder				25196122		False	2	0;100;0	0.272	True		ENSG00000178665	ENSG00000178665	HGNC:22043	7	55955295	55955330	55887602	55887637	CGG	22	450					
