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 sy-51_s2 17 . 39657337 100.0 CG AA PASS 0/1 61 None None None None None None None None None KRT13|0.071438602|57.11%
View sy-51_s2 14 . 74973579 100.0 TGT CGC PASS 0/1 90 None None None None None None None None None LTBP2|0.184719306|38.39%
View sy-51_s2 13 . 99540394 100.0 TA CG PASS 0/1 29 None None None None None None None None None DOCK9|0.3175759|26.27%
View sy-51_s2 13 . 99534094 90.0 C A PASS 0/1 29 None None None None None None None None None DOCK9|0.3175759|26.27%
View sy-51_s2 10 . 105815202 100.0 TCA T R5x9 0/1 38 None None None None None None None None None COL17A1|0.220252717|34.39%
View sy-51_s2 7 . 20739336 93.0 G GA R5x9 0/1 27 None None None None None None None None None ABCB5|0.12579132|46.5%
View sy-51_s2 2 . 228153667 100.0 G GT PASS 0/1 23 None None None None None None None None None COL4A3|0.119573089|47.51%
View sy-51_s2 2 . 228148911 75.0 T C PASS 0/1 17 None None None None None None None None None COL4A3|0.119573089|47.51%
View sy-51_s2 2 . 189926219 100.0 C CT PASS 0/1 29 None None None None None None None None None COL5A2|0.575233366|12.81%
View sy-51_s2 2 . 1642537 100.0 TGC CGT PASS 1/1 76 None None None None None None None None None PXDN|0.054174855|61.43%
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