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: 12
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 combined sample_63.variant25 3 rs72319383,rs149538211
dbSNP Clinvar
42642031 1568.57 CA... C PASS 0/1 90 MOTIF_DELETED LOW None 0.32368 0.32370 None None None None None None SEC22C|0.076084853|56.06%
View combined sample_63.variant25 3 rs548709252,rs372993809
dbSNP Clinvar
119395918 227.66 AA... A PASS 0/1 36 MOTIF_DELETED LOW None 0.09285 0.09285 None None None None None None COX17|0.296566453|27.92%
View combined sample_63.variant25 12 rs141113929
dbSNP Clinvar
133614394 149.92 CA... C PASS 0/1 49 MOTIF_DELETED LOW None None None None None None None ZNF84|0.009963588|80.86%
View combined sample_63.variant25 17 . 3989642 1328.49 AA... A PASS 1/1 39 MOTIF_DELETED LOW None None None None None None None ZZEF1|0.170424205|40.25%
View combined sample_63.variant25 18 . 3262072 3548.58 CG... CG... PASS 1/1 87 MOTIF_DELETED LOW None None None None None None None MYL12B|0.311838043|26.69%
View combined sample_63.variant25 21 rs761137294
dbSNP Clinvar
11098703 276.93 CA... C PASS 0/1 678 MOTIF_DELETED LOW None None None None None None None None
View combined sample_63.variant25 21 rs74415742
dbSNP Clinvar
11098704 1499.13 A G PASS 0/1 635 MOTIF_DELETED LOW None None None None None None None None
View combined sample_63.variant25 21 rs73151874
dbSNP Clinvar
11098723 1498.28 T C PASS 0/1 598 MOTIF_DELETED LOW None 0.07109 0.07109 None None None None None None None
View combined sample_63.variant25 2 . 239007246 857.87 AG... GG... PASS 0/1 28 MOTIF_DELETED LOW None None None None None None None SCLY|0.013575534|78.15%
View combined sample_63.variant25 9 . 66457211 1108.14 AC... AG... PASS 0/2 260 MOTIF_DELETED LOW None None None None None None None None
View combined sample_63.variant25 9 rs150998016
dbSNP Clinvar
66457216 540.16 A G PASS 0/1 199 MOTIF_DELETED LOW None None None None None None None None
View combined sample_63.variant25 9 rs140644333
dbSNP Clinvar
66457231 991.18 G GAC PASS 0/1 219 MOTIF_DELETED LOW None None None None None None None None
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