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 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
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes:

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 8
Number of Genes: 0

Export to: CSV
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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 2077 2 rs1148593
dbSNP Clinvar
97711764 801.84 A G . 1/1 7 MOTIF[MA0014.1:Pax5] MODIFIER None 0.42113 0.42110 None None None None None None None
View gordonsepilepsy normalized 2077 6 rs113453333
dbSNP Clinvar
32522490 2048.17 G A . 0/1 80 MOTIF[MA0014.1:Pax5] MODIFIER None 0.28914 0.28910 None None None None None None None
View gordonsepilepsy normalized 2077 6 rs201361381
dbSNP Clinvar
32522492 4060.72 C T . 0/1 80 MOTIF[MA0014.1:Pax5] MODIFIER None None None None None None None None
View gordonsepilepsy normalized 2077 6 rs111715782
dbSNP Clinvar
32522494 10728.7 C T . 0/1 80 MOTIF[MA0014.1:Pax5] MODIFIER None None None None None None None None
View gordonsepilepsy normalized 2077 6 rs199502756
dbSNP Clinvar
32522501 3832.72 A G . 0/1 75 MOTIF[MA0014.1:Pax5] MODIFIER None None None None None None None None
View gordonsepilepsy normalized 2077 6 rs139996300
dbSNP Clinvar
32522506 8206.72 CC... C . 0/1 75 MOTIF[MA0014.1:Pax5] LOW None None None None None None None None
View gordonsepilepsy normalized 2077 6 . 32522516 1435.61 G * . 0/1 75 MOTIF[MA0014.1:Pax5] LOW None None None None None None None None
View gordonsepilepsy normalized 2077 10 rs183838035
dbSNP Clinvar
105677395 928.17 T C . 0/1 26 MOTIF[MA0014.1:Pax5] MODIFIER None 0.00140 0.00140 0.00115 None None None None None None OBFC1|0.129047686|46.03%
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