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: 7
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_39.variant3 6 rs775215755
dbSNP Clinvar
10891842 1229.38 CT... C,... PASS 1/4 44 None None None None None None None None None SYCP2L|0.010875292|80.19%
View combined sample_39.variant3 2 rs762517173
dbSNP Clinvar
210598184 3837.77 CC... CC... PASS 1/4 110 None None None None None None None None None MAP2|0.886986794|3.8%
View combined sample_39.variant3 3 rs139879256,rs56076357
dbSNP Clinvar
5025514 1683.6 G GG... PASS 1/4 49 None None None 0.61002 0.61000 None None None None None None BHLHE40|0.430176201|19.13%
View combined sample_39.variant3 3 . 55989276 470.97 TT... TT... PASS 1/4 37 None None None None None None None None None ERC2|0.996551916|0.71%
View combined sample_39.variant3 12 rs138350612
dbSNP Clinvar
6092567 419.92 G GG... PASS 1/4 20 None None None 0.01977 0.01977 None None None None None None VWF|0.625448521|10.93%
View combined sample_39.variant3 19 rs760662320
dbSNP Clinvar
54105521 836.94 GG... G,... PASS 1/4 30 None None None None None None None None None None
View combined sample_39.variant3 21 rs200347085
dbSNP Clinvar
36422282 1079.81 AA... AA... PASS 1/4 25 None None None None None None None None None RUNX1|0.998765461|0.45%
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