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 at Omim

BRCA1, BRCA2,
BRCA1 {Breast-ovarian cancer, familial, 1}, 604370 (3)
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)
Fanconi anemia, complementation group S, 617883 (3)
BRCA2 {Breast-ovarian cancer, familial, 2}, 612555 (3)
{Glioblastoma 3}, 613029 (3)
{Medulloblastoma}, 155255 (3)
{Pancreatic cancer 2}, 613347 (3)
{Prostate cancer}, 176807 (3)
Fanconi anemia, complementation group D1, 605724 (3)
Wilms tumor, 194070 (3)
{Breast cancer, male, susceptibility to}, 114480 (3)

Genes at Clinical Genomics Database

BRCA1, BRCA2,
BRCA1 Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
BRCA2 Breast-ovarian cancer, familial, susceptibility to
Pancreatic cancer, susceptibility to, 2
Glioma susceptibility 3
Fanconi anemia, complementation group D1
Wilms tumor
Medulloblastoma

Genes at HGMD

Summary

Number of Variants: 10
Number of Genes: 2

Export to: CSV
  • Page 1 of 1

BRCA1

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 4_s4 17 . 41246605 2088.58 T A LowVariantFreq 0/1 1307 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.96 None None None None None None None
View 4_s4 17 . 41246600 48.01 G T LowVariantFreq 0/1 1289 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.48 None None None None None None None

BRCA2

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 4_s4 13 . 32911258 177.69 C G LowVariantFreq 0/1 1947 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None None
View 4_s4 13 . 32911259 189.09 A G LowVariantFreq 0/1 1948 NON_SYNONYMOUS_CODING MODERATE None 0.50 0.01 None None None None None None None
View 4_s4 13 . 32910602 612.52 C A LowVariantFreq 0/1 291 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.34 None None None None None None None
View 4_s4 13 . 32912595 118.49 T C LowVariantFreq 0/1 213 NON_SYNONYMOUS_CODING MODERATE None 0.21 0.27 None None None None None None None
View 4_s4 13 . 32929184 637.43 T C LowVariantFreq 0/1 404 SYNONYMOUS_CODING LOW None None None None None None None None
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 4_s4 1 . 151397865 29.75 A C LowVariantFreq 0/1 23 None None None None None None None None None None
View 4_s4 1 . 151385162 28.19 T C LowVariantFreq 0/1 51 None None None None None None None None None None
View 4_s4 1 . 151414391 114.88 T G LowVariantFreq 0/1 121 None None None None None None None None None None
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