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: 8
Number of Genes: 0

Export to: CSV
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 hp37_1_filt_10x 16 rs57653517
dbSNP
83983920 674.77 G A PASS 1/1 26 MOTIF[MA0058.1:Max] LOW 0.72883 0.72880 None None None None None None None
View hp37_1_filt_10x 16 rs11646653
dbSNP
28922149 777.77 C T PASS 1/1 34 MOTIF[MA0058.1:Max] LOW 0.75499 0.75500 None None None None None None None
View hp37_1_filt_10x 11 rs769440
dbSNP
64889416 160.77 G C PASS 0/1 19 MOTIF[MA0058.1:Max] MODIFIER 0.44868 0.44870 None None None None None None None
View hp37_1_filt_10x 10 rs3750861
dbSNP
3824433 276.77 C T PASS 0/1 35 MOTIF[MA0058.1:Max] LOW 0.06809 0.06809 0.05957 None None None None None None None
View hp37_1_filt_10x 8 rs2250895
dbSNP
145692296 217.84 A C PASS 1/1 10 MOTIF[MA0058.1:Max] MODIFIER 0.93730 0.93730 0.00952 None None None None None None None
View hp37_1_filt_10x 6 rs1713862
dbSNP
74171467 723.77 C G PASS 1/1 31 MOTIF[MA0058.1:Max] LOW 0.91134 0.91130 None None None None None None None
View hp37_1_filt_10x 6 rs3828916
dbSNP
31465915 134.77 G C PASS 0/1 36 MOTIF[MA0058.1:Max] LOW 0.85064 0.85060 None None None None None None None
View hp37_1_filt_10x 1 rs2253831
dbSNP
237923053 184.77 C T PASS 0/1 43 MOTIF[MA0058.1:Max] LOW 0.76158 0.76160 0.27402 None None None None None None None