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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

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CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

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Genes:
ABCG1, C14orf180, CACNA1A, CC2D2A, CCDC33, CCDC37, CHRNA3, DACH1, DENND4B, EIF2AK3, EMCN, FAM9A, FBXL21, FLII, FOXE1, GOLGA6L2, GPR112, HDGFRP2, HEATR5A, HLA-DQA1, HLA-DRB5, HYDIN, KCNJ12, KIAA2018, KRT1, KRT10, KRTAP10-2, KRTAP17-1, LRRC17, MAML3, MAP3K1, MSH3, NUCB2, NUTM2F, OR2L5, OR4X1, OTUD7A, OVGP1, PIEZO1, PIK3C2G, RFPL1, RNH1, RTKN2, SNAPC4, SP8, TAF4, TCF7L1, TDRP, TP53TG5, USP20, WDR81, ZNF284, ZNF34, ZNF717,

+ Genes associated with diseases 13

Genes at Omim

CACNA1A, CC2D2A, CHRNA3, EIF2AK3, FOXE1, HLA-DQA1, HYDIN, KRT1, KRT10, MAP3K1, MSH3, PIEZO1, WDR81,

CACNA1A	Epileptic encephalopathy, early infantile, 42, 617106 (3) Episodic ataxia, type 2, 108500 (3) Migraine, familial hemiplegic, 1, 141500 (3) Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3) Spinocerebellar ataxia 6, 183086 (3)
CC2D2A	COACH syndrome, 216360 (3) Joubert syndrome 9, 612285 (3) Meckel syndrome 6, 612284 (3)
CHRNA3	{Lung cancer susceptibility 2}, 612052 (3)
EIF2AK3	Wolcott-Rallison syndrome, 226980 (3)
FOXE1	Bamforth-Lazarus syndrome, 241850 (3) {Thyroid cancer, nonmedullary, 4}, 616534 (3)
HLA-DQA1	{Celiac disease, susceptibility to}, 212750 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
KRT1	Epidermolytic hyperkeratosis, 113800 (3) Ichthyosis histrix, Curth-Macklin type, 146590 (3) Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3) Keratosis palmoplantaris striata III, 607654 (3) Palmoplantar keratoderma, epidermolytic, 144200 (3) Palmoplantar keratoderma, nonepidermolytic, 600962 (3)
KRT10	Epidermolytic hyperkeratosis, 113800 (3) Ichthyosis with confetti, 609165 (3) Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
MAP3K1	46XY sex reversal 6, 613762 (3)
MSH3	Endometrial carcinoma, somatic, 608089 (3) Familial adenomatous polyposis 4, 617100 (3)
PIEZO1	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3) Lymphatic malformation 6, 616843 (3)
WDR81	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3)

Genes at Clinical Genomics Database

CACNA1A, CC2D2A, EIF2AK3, FOXE1, KRT1, KRT10, MAP3K1, MSH3, PIEZO1, WDR81,

CACNA1A	Episodic ataxia, type 2 Migraine, familial hemiplegic 1
CC2D2A	Joubert syndrome 9 Meckel syndrome 6 COACH syndrome
EIF2AK3	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus Wolcott-Rallison syndrome
FOXE1	Thyroid cancer, nonmedullary 4 Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome) Congenital hypothyroidism
KRT1	Keratosis palmoplantaris striata III Ichthyosis, cyclic, with epidermolytic hyperkeratosis Ichthyosis histrix, Curth-Macklin type Palmoplantar keratoderma, epidermolytic Palmoplantar keratoderma, nonepidermolytic Epidermolytic hyperkeratosis
KRT10	Erythroderma, ichthyosiform, congenital reticular Aaru disease Ichthyosis, cyclic, with epidermolytic hyperkeratosis Epidermolytic hyperkeratosis Ichthyosis with confetti
MAP3K1	46,XY sex reversal 6
MSH3	Endometrial carcinoma
PIEZO1	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
WDR81	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2

Genes at HGMD

Summary

Number of Variants: 55
Number of Genes: 54

Export to: CSV

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ABCG1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm160117hb v200	21	rs531274135 dbSNP Clinvar	43680106	425.73	CG...	C	.	0/1	24	CODON_DELETION	MODERATE		0.00958	0.00959					None None	None None None None	ABCG1\|0.367260015\|22.94%
C14orf180
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm160117hb v200	14	rs111285011,rs750841137,rs11278058,rs569942489 dbSNP Clinvar	105055118	379.73	TG...	T	.	0/1	24	CODON_DELETION	MODERATE		0.60144	0.60140	0.37790				None None	None None None None	TMEM179\|0.016981919\|75.87%,C14orf180\|0.001311006\|93.82%
CACNA1A
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm160117hb v200	19	rs16054 dbSNP Clinvar	13318672	276.75	CC...	C	.	1/1	8	CODON_DELETION	MODERATE								None None	None None None None	CACNA1A\|0.210424701\|35.52%
CC2D2A
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm160117hb v200	4	rs386833764 dbSNP Clinvar	15513004	553.73	GGAA	G	.	0/1	73	CODON_DELETION	MODERATE		0.04333	0.04333	0.05495				None None	None None None None	CC2D2A\|0.011782601\|79.39%
CCDC33
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm160117hb v200	15	rs10552820,rs35899977,rs397774110 dbSNP Clinvar	74536400	768.73	TAAG	T	.	0/1	39	CODON_DELETION	MODERATE		0.37700	0.37700	0.46150				None None	None None None None	CCDC33\|0.011870787\|79.31%
CCDC37
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm160117hb v200	3	rs140223152 dbSNP Clinvar	126142433	587.73	CGGA	C	.	0/1	43	CODON_DELETION	MODERATE		0.05431	0.05431	0.09665				None None	None None None None	CCDC37\|0.004773865\|86.13%
CHRNA3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm160117hb v200	15	rs66793222,rs143833222,rs60706203 dbSNP Clinvar	78913067	238.73	ACAG	A	.	0/1	11	CODON_DELETION	MODERATE								None None	None None None None	CHRNA3\|0.230381335\|33.33%
DACH1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm160117hb v200	13	rs782647326,rs748058171 dbSNP Clinvar	72440658	495.73	TG...	T	.	1/1	12	CODON_DELETION	MODERATE								None None	None None None None	DACH1\|0.996005265\|0.75%
DENND4B
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm160117hb v200	1	rs3835302 dbSNP Clinvar	153907278	454.73	CC...	C	.	0/1	29	CODON_DELETION	MODERATE								None None	None None None None	DENND4B\|0.160276064\|41.5%
EIF2AK3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm160117hb v200	2	rs72416210 dbSNP Clinvar	88926729	143.0	CCAG	C	.	1/1	4	CODON_DELETION	MODERATE		0.79653	0.79650					None None	None None None None	EIF2AK3\|0.850003581\|4.63%