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: 10
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 55101705103716_annotated 11 rs72479387
dbSNP Clinvar
642829 12.0 C G nt 1/1 4 MOTIF[MA0062.1:Gabp] MODIFIER 0.55292 0.55290 None None None None None None None
View 55101705103716_annotated 11 rs77770004
dbSNP Clinvar
642801 7.0 C G nt 0/1 6 MOTIF[MA0062.1:Gabp] MODIFIER None None None None None None None
View 55101705103716_annotated 11 rs28523836
dbSNP Clinvar
642773 20.0 C G nt 0/1 7 MOTIF[MA0062.1:Gabp] MODIFIER None None None None None None None
View 55101705103716_annotated 19 rs929263
dbSNP Clinvar
663373 18.0 C T nt 1/1 6 MOTIF[MA0062.1:Gabp] MODIFIER 0.85783 0.85780 None None None None None None None
View 55101705103716_annotated 11 rs11217125
dbSNP Clinvar
118889185 17.0 T C nt 1/0 14 MOTIF[MA0062.1:Gabp] MODIFIER 0.27077 0.27080 None None None None None None RPS25|0.414981471|19.87%,TRAPPC4|0.703226976|8.41%
View 55101705103716_annotated 7 rs6460173
dbSNP Clinvar
64126500 30.0 G A nt 1/0 28 MOTIF[MA0062.1:Gabp] LOW 0.32029 0.32030 None None None None None None None
View 55101705103716_annotated 7 rs71524053
dbSNP Clinvar
5938326 68.0 C T nt 1/1 19 MOTIF[MA0062.1:Gabp] LOW None None None None None None None
View 55101705103716_annotated 19 . 4457786 7.0 G A sb;idl,nt 1/0 24 MOTIF[MA0062.1:Gabp] LOW None None None None None None UBXN6|0.016044288|76.45%
View 55101705103716_annotated 17 rs2955626
dbSNP Clinvar
618100 153.0 C G nt 1/1 41 MOTIF[MA0062.1:Gabp] MODIFIER 0.66753 0.66750 None None None None None None VPS53|0.411696194|20.07%
View 55101705103716_annotated 1 rs3124617,rs1029344982
dbSNP Clinvar
145382407 180.0 A G nt 1/1 48 MOTIF[MA0062.1:Gabp] LOW 0.97284 0.97280 None None None None None None None
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