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 12107_s6 9 . 137645648 100.0 TC CT PASS 0/1 58 None None None None None None None None None COL5A1|0.207487878|35.85%
View 12107_s6 7 . 20739336 71.0 GA G R5x9 0/1 34 None None None None None None None None None ABCB5|0.12579132|46.5%
View 12107_s6 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 12107_s6 2 . 189926219 100.0 C CT PASS 1/1 25 None None None None None None None None None COL5A2|0.575233366|12.81%
View 12107_s6 X . 107908846 100.0 T C PASS 1/1 20 None None None None None None None None None COL4A5|0.684108995|8.97%
View 12107_s6 20 . 3212223 100.0 AGA TGG PASS 0/1 40 None None None None None None None None None SLC4A11|0.04004945|65.76%
View 12107_s6 14 . 74973579 100.0 TGT CGC PASS 1/1 83 None None None None None None None None None LTBP2|0.184719306|38.39%
View 12107_s6 13 . 110865961 100.0 AC GT PASS 1/1 18 None None None None None None None None None COL4A1|0.224151486|33.94%
View 12107_s6 13 . 99540394 67.0 TA CG PASS 0/1 24 None None None None None None None None None DOCK9|0.3175759|26.27%
View 12107_s6 2 . 1642537 100.0 TGC CGT PASS 1/1 84 None None None None None None None None None PXDN|0.054174855|61.43%
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