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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 3

Genes:
CACNA1G, GOSR2, TSEN54,

+ Genes associated with diseases 3

Genes at Omim

CACNA1G, GOSR2, TSEN54,

CACNA1G	Spinocerebellar ataxia 42, 616795 (3) Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3)
GOSR2	Epilepsy, progressive myoclonic 6, 614018 (3)
TSEN54	Pontocerebellar hypoplasia type 2A, 277470 (3) Pontocerebellar hypoplasia type 4, 225753 (3) ?Pontocerebellar hypoplasia type 5, 610204 (3)

Genes at Clinical Genomics Database

CACNA1G, GOSR2, TSEN54,

CACNA1G	Spinocerebellar ataxia 42
GOSR2	Epilepsy, progessive myoclonic 6
TSEN54	Pontocerebellar hypoplasia, type 2A Pontocerebellar hypoplasia type 4 Pontocerebellar hypoplasia type 5

Genes at HGMD

Summary

Number of Variants: 33
Number of Genes: 3

Export to: CSV

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CACNA1G
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	2-ac-cap17_s1 genome	17	rs12449998 dbSNP Clinvar	48653354	21012.89	C	A	PASS	1/1	750	SYNONYMOUS_CODING	LOW	None	0.52396	0.52400	0.37423				None None	None None None None	CACNA1G\|0.364374297\|23.14%
	View	2-ac-cap17_s1 genome	17	rs739925 dbSNP Clinvar	48703752	9457.67	T	C	PASS	0/1	776	SYNONYMOUS_CODING	LOW	None	0.36721	0.36720	0.45722				None None	None None None None	CACNA1G\|0.364374297\|23.14%
GOSR2
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	2-ac-cap17_s1 genome	17	rs197922 dbSNP Clinvar	45008570	7176.65	G	A	PASS	0/1	669	NON_SYNONYMOUS_CODING	MODERATE	None	0.34605	0.34600	0.32477	1.00	0.00		None None	None None None None	GOSR2\|0.237320017\|32.66%
TSEN54
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	2-ac-cap17_s1 genome	17	rs8074291 dbSNP Clinvar	73513156	8144.3	G	A	PASS	0/1	702	None	None	None	0.16314	0.16310	0.19344				None None	None None None None	TSEN54\|0.050099364\|62.63%
	View	2-ac-cap17_s1 genome	17	rs58038334 dbSNP Clinvar	73513182	31221.96	CG...	C	PASS	0/1	687	None	None	None	0.21586	0.21590	0.33478				None None	None None None None	TSEN54\|0.050099364\|62.63%
	View	2-ac-cap17_s1 genome	17	.	73513183	857.69	G	.	PASS	0	408	None	None	None	0.21586	0.21590	0.33478				None None	None None None None	TSEN54\|0.050099364\|62.63%
	View	2-ac-cap17_s1 genome	17	rs6501818 dbSNP Clinvar	73513289	9115.12	C	G	PASS	0/1	729	SYNONYMOUS_CODING	LOW	None	0.16314	0.16310	0.19874				None None	None None None None	TSEN54\|0.050099364\|62.63%
	View	2-ac-cap17_s1 genome	17	rs9911502 dbSNP Clinvar	73518203	7796.54	G	C	PASS	0/1	681	NON_SYNONYMOUS_CODING	MODERATE	None	0.44469	0.44470	0.45960	0.00	0.80		None None	None None None None	TSEN54\|0.050099364\|62.63%
	View	2-ac-cap17_s1 genome	17	rs6501820 dbSNP Clinvar	73518284	17293.84	G	C	PASS	1/1	608	SYNONYMOUS_CODING	LOW	None	0.81430	0.81430	0.06497				None None	None None None None	TSEN54\|0.050099364\|62.63%
	View	2-ac-cap17_s1 genome	17	rs77247739 dbSNP Clinvar	73518328	7147.46	A	C	PASS	0/1	609	NON_SYNONYMOUS_CODING	MODERATE	None	0.07069	0.07069	0.06962	0.20	0.08		None None	None None None None	TSEN54\|0.050099364\|62.63%
	View	2-ac-cap17_s1 genome	17	rs8064529 dbSNP Clinvar	73519413	9754.39	C	T	PASS	0/1	850	NON_SYNONYMOUS_CODING	MODERATE	None	0.56130	0.56130	0.33931	0.05	0.01		None None	None None None None	TSEN54\|0.050099364\|62.63%
	View	2-ac-cap17_s1 genome	17	rs7216673 dbSNP Clinvar	73512653	1179.1	G	T	PASS	0/1	93	NON_SYNONYMOUS_CODING	MODERATE	None	0.54373	0.54370		0.28	0.00		None None	None None None None	TSEN54\|0.050099364\|62.63%
	View	2-ac-cap17_s1 genome	17	rs8079373 dbSNP Clinvar	73512884	3724.79	T	G	PASS	0/1	346	NON_SYNONYMOUS_CODING	MODERATE	None	0.16314	0.16310	0.13948	0.04	0.31		None None	None None None None	TSEN54\|0.050099364\|62.63%
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	2-ac-cap17_s1 genome	17	rs198550 dbSNP Clinvar	48652875	14344.53	A	G	PASS	1/1	510	None	None	None	0.69609	0.69610	0.42575				None None	None None None None	CACNA1G\|0.364374297\|23.14%
	View	2-ac-cap17_s1 genome	17	rs1052586 dbSNP Clinvar	45018463	9729.34	T	C	PASS	0/1	776	None	None	None	0.49082	0.49080					None None	None None None None	GOSR2\|0.237320017\|32.66%
	View	2-ac-cap17_s1 genome	17	rs8064333 dbSNP Clinvar	48668013	6163.26	G	C	PASS	0/1	556	None	None	None	0.56550	0.56550	0.39516				None None	None None None None	CACNA1G\|0.364374297\|23.14%
	View	2-ac-cap17_s1 genome	17	rs8066527 dbSNP Clinvar	48692881	6525.52	C	T	PASS	0/1	575	None	None	None	0.20008	0.20010	0.30857				None None	None None None None	CACNA1G\|0.364374297\|23.14%
	View	2-ac-cap17_s1 genome	17	rs4794171 dbSNP Clinvar	48693760	8610.0	G	C	PASS	0/1	692	None	None	None	0.21146	0.21150	0.35960				None None	None None None None	CACNA1G\|0.364374297\|23.14%
	View	2-ac-cap17_s1 genome	17	rs775057923 dbSNP Clinvar	48701697	607.52	T	C	LowQD;SB	0/1	526	None	None	None							None None	None None None None	CACNA1G\|0.364374297\|23.14%
	View	2-ac-cap17_s1 genome	17	rs56895494 dbSNP Clinvar	73513619	7540.56	C	A	PASS	0/1	641	None	None	None	0.09385	0.09385	0.13217				None None	None None None None	TSEN54\|0.050099364\|62.63%
	View	2-ac-cap17_s1 genome	17	rs34036927 dbSNP Clinvar	48704800	6847.23	A	C	PASS	0/1	589	None	None	None	0.13478	0.13480					None None	None None None None	CACNA1G\|0.364374297\|23.14%
	View	2-ac-cap17_s1 genome	17	rs879635844 dbSNP Clinvar	1641900	440.19	C	CT	LowQD	0/1	658	None	None	None	0.65256	0.65260					None None	None None None None	None
	View	2-ac-cap17_s1 genome	17	rs371988281,rs60290804 dbSNP Clinvar	26880657	14602.35	G	GA...	PASS	1/2	476	None	None	None							None None	None None None None	PIGS\|0.21644599\|34.82%
	View	2-ac-cap17_s1 genome	17	rs631905 dbSNP Clinvar	26883313	18262.03	A	G	PASS	1/1	659	None	None	None	0.48702	0.48700	0.48539				None None	None None None None	PIGS\|0.21644599\|34.82%
	View	2-ac-cap17_s1 genome	17	rs189899 dbSNP Clinvar	45000529	6334.91	G	C	PASS	0/1	600	None	None	None	0.37320	0.37320	0.30023				None None	None None None None	GOSR2\|0.237320017\|32.66%
	View	2-ac-cap17_s1 genome	17	rs183199 dbSNP Clinvar	45000547	16352.49	G	C	PASS	1/1	596	None	None	None	0.95367	0.95370	0.04904				None None	None None None None	GOSR2\|0.237320017\|32.66%
	View	2-ac-cap17_s1 genome	17	rs8078556 dbSNP Clinvar	45016427	23754.84	T	C	PASS	1/1	871	None	None	None	0.93630	0.93630					None None	None None None None	GOSR2\|0.237320017\|32.66%
	View	2-ac-cap17_s1 genome	17	rs758391 dbSNP Clinvar	45017241	9513.4	G	A	PASS	0/1	794	None	None	None	0.37500	0.37500					None None	None None None None	GOSR2\|0.237320017\|32.66%
	View	2-ac-cap17_s1 genome	17	rs4968286 dbSNP Clinvar	45017645	11100.37	T	C	PASS	0/1	880	None	None	None	0.45947	0.45950					None None	None None None None	GOSR2\|0.237320017\|32.66%
	View	2-ac-cap17_s1 genome	17	rs758392 dbSNP Clinvar	45017859	8938.86	A	G	PASS	0/1	766	None	None	None	0.41134	0.41130	0.42072				None None	None None None None	GOSR2\|0.237320017\|32.66%
	View	2-ac-cap17_s1 genome	17	rs556885353 dbSNP Clinvar	45019106	494.06	AT	A	PASS	0/1	220	None	None	None	0.18690	0.18690					None None	None None None None	GOSR2\|0.237320017\|32.66%
	View	2-ac-cap17_s1 genome	17	.	45019107	0.0	T	.	PASS	0	184	None	None	None	0.18690	0.18690					None None	None None None None	GOSR2\|0.237320017\|32.66%
	View	2-ac-cap17_s1 genome	17	rs1047779 dbSNP Clinvar	45019243	6658.52	T	G	PASS	0/1	549	None	None	None	0.45587	0.45590					None None	None None None None	GOSR2\|0.237320017\|32.66%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 3

+ Genes associated with diseases 3

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

CACNA1G

GOSR2

TSEN54

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