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

BUB1B, CHRNA3, FANCI,
BUB1B Colorectal cancer, somatic, 114500 (3)
Mosaic variegated aneuploidy syndrome 1, 257300 (3)
[Premature chromatid separation trait], 176430 (3)
CHRNA3 {Lung cancer susceptibility 2}, 612052 (3)
FANCI Fanconi anemia, complementation group I, 609053 (3)

Genes at Clinical Genomics Database

BUB1B, FANCI,
BUB1B Mosaic variegated aneuploidy syndrome
Premature chromatid separation trait
FANCI Fanconi anemia, complementation group I

Genes at HGMD

Summary

Number of Variants: 11
Number of Genes: 3

Export to: CSV
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BUB1B

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 larissa_s11 15 rs1047130
dbSNP Clinvar
40488851 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.19070 0.19070 0.22643 None None None None None None BUB1B|0.539848425|14.21%
View larissa_s11 15 rs751509832
dbSNP Clinvar
40509810 100.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.20 0.11 None None None None None None BUB1B|0.539848425|14.21%,PAK6|0.183662894|38.57%
View larissa_s11 15 rs1801376
dbSNP Clinvar
40477831 100.0 G A PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.62820 0.62820 0.26403 1.00 0.00 None None None None None None BUB1B|0.539848425|14.21%

CHRNA3

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 larissa_s11 15 rs1051730
dbSNP Clinvar
78894339 100.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.16813 0.16810 0.27192 None None None None None None CHRNA3|0.230381335|33.33%

FANCI

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 larissa_s11 15 rs7183618
dbSNP Clinvar
89838236 100.0 G A PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.98083 0.98080 0.03993 None None None None None None FANCI|0.35466511|23.8%
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 larissa_s11 15 rs8034191
dbSNP Clinvar
78806023 100.0 T C PASS 0/1 0 None None None 0.18890 0.18890 None None None None None None HYKK|0.017275553|75.69%
View larissa_s11 15 rs4775302
dbSNP Clinvar
46639808 100.0 G A PASS 0/1 0 None None None 0.40795 0.40790 None None None None None None None
View larissa_s11 15 rs4924410
dbSNP Clinvar
40339494 100.0 A C PASS 1/1 0 None None None 0.79273 0.79270 None None None None None None None
View larissa_s11 15 rs4779584
dbSNP Clinvar
32994756 100.0 T C PASS 1/1 0 None None None 0.50699 0.50700 None None None None None None None
View larissa_s11 15 rs4775699
dbSNP Clinvar
47873549 100.0 C T PASS 0/1 0 None None None 0.37081 0.37080 0.43252 None None None None None None SEMA6D|0.872174744|4.17%
View larissa_s11 15 rs7176508
dbSNP Clinvar
70018990 100.0 A G PASS 0/1 0 None None None 0.68690 0.68690 None None None None None None None
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