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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
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+ Genes 2

Genes:
BRCA1, BRCA2,

+ Genes associated with diseases 2

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: 7
Number of Genes: 2

Export to: CSV
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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 43_s43 17 . 41246605 1716.59 T A LowVariantFreq 0/1 4826 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.96 None None None None None None BRCA1|0.986984945|1.2%

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 43_s43 13 . 32972435 352.41 A C LowVariantFreq 0/1 625 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None BRCA2|0.561492787|13.3%
View 43_s43 13 . 32914772 112.4 T C LowVariantFreq 0/1 1227 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None BRCA2|0.561492787|13.3%
View 43_s43 13 . 32912845 706.74 T C LowVariantFreq 0/1 523 SYNONYMOUS_CODING LOW SILENT None None None None None None BRCA2|0.561492787|13.3%
View 43_s43 13 . 32910602 1770.65 C A LowVariantFreq 0/1 1280 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.34 None None None None None None BRCA2|0.561492787|13.3%
View 43_s43 13 . 32900252 83.25 A C LowVariantFreq 0/1 344 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.82 None None None None None None BRCA2|0.561492787|13.3%
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 43_s43 7 rs75054333
dbSNP Clinvar 		114331998 188.72 G A LowVariantFreq 0/1 111 None None None None None None None None None FOXP2|0.999984223|0.09%
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