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

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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD SHOW ONLY VARIANTS PRESENT AT HGMD

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1000 GENOMES FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES	DBSNP FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN DBSNP	ESP6500 FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

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Genes:
AKAP3, ANAPC7, B3GNT4, C12orf50, C12orf55, CACNA2D4, CLEC7A, CMKLR1, DENND5B, DIP2B, ELK3, GPR84, HCAR1, KIAA1033, KRT1, KRT18, KRT77, KRT83, MED13L, MUC19, NFYB, OAS2, OGFOD2, OR8S1, OVCH1, OVCH1-AS1, PARPBP, PLXNC1, PTPRB, PTPRR, RECQL, RFX4, RHNO1, RILPL1, SLC38A4, TMEM132C, UHRF1BP1L,

+ Genes associated with diseases 7

Genes at Omim

CACNA2D4, CLEC7A, DIP2B, KRT1, KRT18, KRT83, MED13L,

CACNA2D4	Retinal cone dystrophy 4, 610478 (3)
CLEC7A	Candidiasis, familial, 4, autosomal recessive, 613108 (3) {Aspergillosis, susceptibility to}, 614079 (3)
DIP2B	Mental retardation, FRA12A type, 136630 (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)
KRT18	{Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3) Cirrhosis, cryptogenic, 215600 (3)
KRT83	Erythrokeratodermia variabilis et progressiva 5, 617756 (3) Monilethrix, 158000 (3)
MED13L	Mental retardation and distinctive facial features with or without cardiac defects, 616789 (3) Transposition of the great arteries, dextro-looped 1, 608808 (3)

Genes at Clinical Genomics Database

CACNA2D4, CLEC7A, DIP2B, KIAA1033, KRT1, KRT83, MED13L,

CACNA2D4	Retinal cone dystrophy 4
CLEC7A	Candidiasis, familial, 4
DIP2B	Mental retardation, FRA12A type
KIAA1033	Mental retardation, autosomal recessive 43
KRT1	Keratosis palmoplantaris striata III Ichthyosis, cyclic, with epidermolytic hyperkeratosis Ichthyosis histrix, Curth-Macklin type Palmoplantar keratoderma, epidermolytic Palmoplantar keratoderma, nonepidermolytic Epidermolytic hyperkeratosis
KRT83	Monilethrix
MED13L	Transposition of the great arteries, dextro-looped 1 Mental retardation and distinctive facial features with or without cardiac defects Congenital heart defects and intellectual disability Intellectual disability, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 316
Number of Genes: 37

Export to: CSV

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AKAP3
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	ex_013_mod	12	rs34215645 dbSNP Clinvar	4724995	28300.24	C	T	PASS	0/1	94	SYNONYMOUS_CODING	LOW	None	0.00319	0.00320	0.00900				None None	None None None None	AKAP3\|0.022604217\|72.88%
ANAPC7
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	ex_013_mod	12	rs140917138 dbSNP Clinvar	110815310	10577.32	G	A	PASS	0/1	165	SYNONYMOUS_CODING	LOW	None	0.00080	0.00080	0.00192				None None	None None None None	ANAPC7\|0.417994348\|19.68%
B3GNT4
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	ex_013_mod	12	rs147657286 dbSNP Clinvar	122691428	28164.47	G	A	PASS	0/1	92	SYNONYMOUS_CODING	LOW	None	0.00140	0.00140	0.00746				None None	None None None None	B3GNT4\|0.02304241\|72.69%
C12orf50
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	ex_013_mod	12	rs141441001 dbSNP Clinvar	88376957	341.53	G	A	PASS	0/1	26	NON_SYNONYMOUS_CODING	MODERATE	None			0.00015	0.02	0.55		None None	None None None None	C12orf50\|0.267155903\|30.09%
C12orf55
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	ex_013_mod	12	rs147435428 dbSNP Clinvar	96992488	20706.58	T	C	PASS	0/1	40	SYNONYMOUS_CODING	LOW	None	0.00419	0.00419					None None	None None None None	CFAP54\|0.043483617\|64.67%
CACNA2D4
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	ex_013_mod	12	rs55971855 dbSNP Clinvar	1908849	35948.06	A	G	PASS	0/1	60	NON_SYNONYMOUS_CODING	MODERATE	None	0.00319	0.00320	0.00469	0.09	0.45		None None	None None None None	CACNA2D4\|0.041118037\|65.41%
CLEC7A
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	ex_013_mod	12	rs144190589 dbSNP Clinvar	10277991	32329.26	G	A	PASS	0/1	136	SYNONYMOUS_CODING	LOW	None	0.00639	0.00639	0.00561				None None	None None None None	CLEC7A\|0.004847679\|86.03%
CMKLR1
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	ex_013_mod	12	rs192034694 dbSNP Clinvar	108686549	55373.1	A	G	PASS	0/1	99	NON_SYNONYMOUS_CODING	MODERATE	None	0.00220	0.00220	0.00564	0.00	0.87		None None	None None None None	CMKLR1\|0.083025964\|54.57%
DENND5B
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	ex_013_mod	12	rs773495469 dbSNP Clinvar	31604899	1635.51	C	T	PASS	0/1	117	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	1.00		None None	None None None None	DENND5B\|0.071759002\|57.04%
DIP2B
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	ex_013_mod	12	rs373842256 dbSNP Clinvar	51115163	1288.51	G	A	PASS	0/1	97	SYNONYMOUS_CODING	LOW	None	0.00020	0.00020	0.00046				None None	None None None None	DIP2B\|0.298176255\|27.8%