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
COL9A2	gene	COL9A2	Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Multiple Epiphyseal Dysplasia	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epiphyseal dysplasia, multiple, 2, OMIM:600204				20358595;21922596;20301302		False	3	100;0;0	1.7	True		ENSG00000049089	ENSG00000049089	HGNC:2218													
COL9A3	gene	COL9A3	Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services	Multiple Epiphyseal Dysplasia	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969				21922596;20301302;20301479		False	3	100;0;0	1.7	True		ENSG00000092758	ENSG00000092758	HGNC:2219													
COMP	gene	COMP	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services	Multiple Epiphyseal Dysplasia	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	multiple epiphyseal dysplasia, pseudoachondroplasia;Multiple Epiphyseal Dysplasia, Dominant;Epiphyseal dysplasia, multiple, 1				PMID: 24595329;17133256		False	3	100;0;0	1.7	True		ENSG00000105664	ENSG00000105664	HGNC:2227													
MATN3	gene	MATN3	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Multiple Epiphyseal Dysplasia	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	multiple epiphyseal dysplasia;Multiple Epiphyseal Dysplasia, Dominant;Epiphyseal dysplasia, multiple, 5, 607078				PMID: 21922596;20301302;20358595		False	3	100;0;0	1.7	True		ENSG00000132031	ENSG00000132031	HGNC:6909													
SLC26A2	gene	SLC26A2	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services	Multiple Epiphyseal Dysplasia	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	multiple epiphyseal dysplasia;Multiple Epiphyseal Dysplasia, Recessive;Epiphyseal dysplasia, multiple, 4				PMID: 21922596		False	3	100;0;0	1.7	True		ENSG00000155850	ENSG00000155850	HGNC:10994