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
ARAF	gene	ARAF	Expert list;Expert Review Amber	Mosaic skin disorders - deep sequencing		Dermatology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	central conducting lymphatic anomaly				31263281		False	2	100;0;0	3.27	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000078061	ENSG00000078061	HGNC:646													
CARD14	gene	CARD14	Expert Review Amber	Mosaic skin disorders - deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	inflammatory linear verrucous epidermal nevus, MONDO:0019318				34116062;35853659;38360177		False	2	67;0;33	3.27	False		ENSG00000141527	ENSG00000141527	HGNC:16446													
EGFR	gene	EGFR	Expert list;Expert Review Amber	Mosaic skin disorders - deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	nonepidermolytic keratinocytic epidermal naevus				31745974		False	2	0;100;0	3.27	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000146648	ENSG00000146648	HGNC:3236													
EPHB4	gene	EPHB4	Expert list;Expert Review Amber	Mosaic skin disorders - deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Capillary malformation-arteriovenous malformation 2, OMIM:618196				30760892		False	2	100;0;0	3.27	False		ENSG00000196411	ENSG00000196411	HGNC:3395													
GNB2	gene	GNB2	Expert Review Amber;Literature	Mosaic skin disorders - deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sturge-Weber syndrome, somatic, mosaic, OMIM:185300				34124757		False	2	0;50;50	3.27	False		ENSG00000172354	ENSG00000172354	HGNC:4398													
KITLG	gene	KITLG	Expert Review Amber;London North GLH;NHS GMS	Mosaic skin disorders - deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Linear and whorled nevoid hypermelanosis (LWNH);Hyperpigmentation with or without hypopigmentation, OMIM:145250				28257793		False	2	100;0;0	3.27	False		ENSG00000049130	ENSG00000049130	HGNC:6343													
MVK	gene	MVK	Expert Review Amber;London North GLH;NHS GMS	Mosaic skin disorders - deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Porokeratosis 3, multiple types, OMIM:175900;porokeratosis 3, disseminated superficial actinic type, MONDO:0008293				22983302;24781643;26794421;31207227;31753123;39386107		False	2	67;0;33	3.27	False		ENSG00000110921	ENSG00000110921	HGNC:7530													
PMVK	gene	PMVK	Expert Review Amber	Mosaic skin disorders - deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	inflammatory linear verrucous epidermal nevus, MONDO:0019318;Porokeratosis 1, multiple types OMIM:175800				30942823;35853659;38360177		False	2	67;33;0	3.27	False		ENSG00000163344	ENSG00000163344	HGNC:9141													
TP63	gene	TP63	Expert list;Expert Review Amber	Mosaic skin disorders - deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292				18792980;22740388;27351625;28977327;34703865		False	2	100;0;0	3.27	False		ENSG00000073282	ENSG00000073282	HGNC:15979													
TSC1	gene	TSC1	Expert Review;Expert Review Amber	Mosaic skin disorders - deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tuberous sclerosis-1, OMIM:191100;tuberous sclerosis 1, MONDO:0008612				26540169;31160751;31114024;32461669;37141891;37356622		False	2	100;0;0	3.27	False		ENSG00000165699	ENSG00000165699	HGNC:12362													
TSC2	gene	TSC2	Expert Review;Expert Review Amber	Mosaic skin disorders - deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tuberous sclerosis-2, OMIM: 613254;tuberous sclerosis 2, MONDO:0013199				26540169;31160751;31114024;32461669;37141891;37356622		False	2	100;0;0	3.27	False		ENSG00000103197	ENSG00000103197	HGNC:12363