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: 5
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 paciente_3751_26_mayo_17_26may2017_15_09_01_836 1 rs10917413
dbSNP Clinvar
24018277 117.0 C G PASS 1/1 0 START_GAINED LOW None 0.97684 0.97680 0.01615 None None None None None None RPL11|0.770814273|6.52%
View paciente_3751_26_mayo_17_26may2017_15_09_01_836 11 rs883245
dbSNP Clinvar
119217311 117.0 G A PASS 1/1 0 START_GAINED LOW None 0.58387 0.58390 None None None None None None C1QTNF5|0.125545582|46.55%,MFRP|0.053195246|61.74%
View paciente_3751_26_mayo_17_26may2017_15_09_01_836 19 rs11084490
dbSNP Clinvar
57742472 117.0 G C PASS 1/1 0 START_GAINED LOW None 0.86761 0.86760 None None None None None None AURKC|0.010911185|80.15%
View paciente_3751_26_mayo_17_26may2017_15_09_01_836 19 rs58264281
dbSNP Clinvar
57742489 117.0 C T PASS 1/1 0 START_GAINED LOW None 0.76777 0.76780 None None None None None None AURKC|0.010911185|80.15%
View paciente_3751_26_mayo_17_26may2017_15_09_01_836 20 rs62198335
dbSNP Clinvar
29623156 224.0 G A PASS 1/0 0 START_GAINED LOW None None None None None None None FRG1B|0.009509512|81.26%
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