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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:

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SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
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 1

Genes:
SLC25A5,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 18
Number of Genes: 1

Export to: CSV
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SLC25A5
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 gordonsepilepsy normalized 2076 X rs201182381
dbSNP Clinvar 		118603713 180.5 T C . 0/1 73 SYNONYMOUS_CODING LOW None None None None None None None SLC25A5|0.183724763|38.57%
View gordonsepilepsy normalized 2076 X rs143413528
dbSNP Clinvar 		118603729 271.18 G A . 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.96 None None None None None None SLC25A5|0.183724763|38.57%
View gordonsepilepsy normalized 2076 X rs148294496
dbSNP Clinvar 		118603742 304.25 A C . 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.97 None None None None None None SLC25A5|0.183724763|38.57%
View gordonsepilepsy normalized 2076 X rs141428607
dbSNP Clinvar 		118603747 373.56 A T . 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.92 None None None None None None SLC25A5|0.183724763|38.57%
View gordonsepilepsy normalized 2076 X rs780390657
dbSNP Clinvar 		118603756 86.69 T A . 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.47 None None None None None None SLC25A5|0.183724763|38.57%
View gordonsepilepsy normalized 2076 X rs148920941
dbSNP Clinvar 		118603773 424.92 T C . 0/1 62 SYNONYMOUS_CODING LOW None None None None None None None SLC25A5|0.183724763|38.57%
View gordonsepilepsy normalized 2076 X rs77766798
dbSNP Clinvar 		118603818 584.08 T G . 0/1 49 SYNONYMOUS_CODING LOW None None None None None None None SLC25A5|0.183724763|38.57%
View gordonsepilepsy normalized 2076 X rs73637847
dbSNP Clinvar 		118603830 537.34 A G . 0/1 47 SYNONYMOUS_CODING LOW None None None None None None None SLC25A5|0.183724763|38.57%
View gordonsepilepsy normalized 2076 X rs200974395
dbSNP Clinvar 		118604060 128.29 G T . 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.95 None None None None None None SLC25A5|0.183724763|38.57%
View gordonsepilepsy normalized 2076 X rs80253442
dbSNP Clinvar 		118604367 258.18 C T . 0/1 28 SYNONYMOUS_CODING LOW None None None None None None None SLC25A5|0.183724763|38.57%
View gordonsepilepsy normalized 2076 X rs115513989
dbSNP Clinvar 		118604399 456.92 C G . 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.80 None None None None None None SLC25A5|0.183724763|38.57%
View gordonsepilepsy normalized 2076 X rs116700864
dbSNP Clinvar 		118604400 456.92 T G . 0/1 31 SYNONYMOUS_CODING LOW None None None None None None None SLC25A5|0.183724763|38.57%
View gordonsepilepsy normalized 2076 X rs201855156
dbSNP Clinvar 		118604409 372.22 C T . 0/1 33 SYNONYMOUS_CODING LOW None None None None None None None SLC25A5|0.183724763|38.57%
View gordonsepilepsy normalized 2076 X rs200133814
dbSNP Clinvar 		118604412 360.17 G A . 0/1 33 SYNONYMOUS_CODING LOW None None None None None None None SLC25A5|0.183724763|38.57%
View gordonsepilepsy normalized 2076 X rs201167774
dbSNP Clinvar 		118604416 318.17 A G . 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.53 0.01 None None None None None None SLC25A5|0.183724763|38.57%
View gordonsepilepsy normalized 2076 X rs73213195
dbSNP Clinvar 		118605001 42.24 G T . 0/1 15 STOP_GAINED HIGH None None None None None None None SLC25A5|0.183724763|38.57%
View gordonsepilepsy normalized 2076 X rs80323990
dbSNP Clinvar 		118605012 139.95 G C . 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.07 None None None None None None SLC25A5|0.183724763|38.57%
View gordonsepilepsy normalized 2076 X rs77294853
dbSNP Clinvar 		118605017 136.93 C T . 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.93 None None None None None None SLC25A5|0.183724763|38.57%
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