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SELECT VARIANTS FROM		EXCLUDE VARIANTS FROM
INDIVIDUALS: SNP LIST:	GROUPS: SAVED GENE LIST: GENE LIST:	INDIVIDUALS: EXCLUDE SNP LIST:	EXCLUDE GROUPS: EXCLUDE SAVED GENE LIST: EXCLUDE GENE LIST:
SELECT INHERITANCE:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:

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

DBSNP BUILD: EXCLUDE VARIANTS AT VARISNP	READ DEPTH: QUAL:	VARIANTS PER GENE:
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

FREQUENCIES

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 10

Genes:
ATXN1, CORO1C, FOXC1, GPR63, HIST1H2AB, KCTD10, MRPS26, OSBPL11, TFRC, WIZ,

+ Genes associated with diseases 3

Genes at Omim

ATXN1, FOXC1, TFRC,

ATXN1	Spinocerebellar ataxia 1, 164400 (3)
FOXC1	Anterior segment dysgenesis 3, multiple subtypes, 601631 (3) Axenfeld-Rieger syndrome, type 3, 602482 (3)
TFRC	Immunodeficiency 46, 616740 (3)

Genes at Clinical Genomics Database

ATXN1, FOXC1, TFRC,

ATXN1	Spinocerebellar ataxia 1
FOXC1	Peters anomaly Axenfeld-Rieger syndrome, type 3 Iridogoiodysgenesis, type 1
TFRC	Immunodeficiency 46

Genes at HGMD

Summary

Number of Variants: 10
Number of Genes: 10

Export to: CSV

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ATXN1
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	wes08-paw final	6	.	16327633	266.73	G	GTGC	PASS	0/1	20	CODON_INSERTION	MODERATE								None None	None None None None	ATXN1\|0.832563526\|5.05%
CORO1C
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	wes08-paw final	12	.	109052621	152.73	C	CC...	PASS	0/1	6	CODON_INSERTION	MODERATE								None None	None None None None	CORO1C\|0.224081019\|33.94%
FOXC1
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	wes08-paw final	6	.	1611567	53.7	G	GGGC	PASS	1/1	2	CODON_INSERTION	MODERATE								None None	None None None None	FOXC1\|0.68260094\|9.01%
GPR63
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	wes08-paw final	6	.	97246706	992.73	A	ATAG	PASS	1/1	23	CODON_INSERTION	MODERATE								None None	None None None None	GPR63\|0.080645765\|55.03%
HIST1H2AB
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	wes08-paw final	6	.	26033581	4787.73	T	TAAG	PASS	1/1	107	CODON_INSERTION	MODERATE								None None	None None None None	HIST1H2AB\|0.333377369\|25.2%
KCTD10
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	wes08-paw final	12	.	109907500	756.73	A	ACCT	PASS	0/1	50	CODON_INSERTION	MODERATE								None None	None None None None	KCTD10\|0.111795137\|48.88%
MRPS26
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	wes08-paw final	20	.	3027048	421.73	A	AGGT	PASS	0/1	27	CODON_INSERTION	MODERATE								None None	None None None None	MRPS26\|0.032207759\|68.51%
OSBPL11
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	wes08-paw final	3	.	125279254	82.73	C	CAAA	PASS	0/1	5	CODON_INSERTION	MODERATE								None None	None None None None	OSBPL11\|0.126573569\|46.4%
TFRC
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	wes08-paw final	3	.	195780371	1299.77	C	CT...	PASS	0/1	53	CODON_INSERTION	MODERATE								None None	None None None None	TFRC\|0.701274957\|8.47%
WIZ
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	wes08-paw final	19	.	15540745	1357.73	G	GAGC	PASS	1/1	30	CODON_INSERTION	MODERATE								None None	None None None None	WIZ\|0.125492698\|46.57%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 10

+ Genes associated with diseases 3

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

ATXN1

CORO1C

FOXC1

GPR63

HIST1H2AB

KCTD10

MRPS26

OSBPL11

TFRC

WIZ

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