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: 10
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 annotation final 1 rs4372192
dbSNP Clinvar
876499 353.01 A G LowCoverage 1/1 9 None None None 0.91314 0.91310 0.08071 None None None None None None SAMD11|0.017850254|75.37%
View annotation final 1 rs28521172
dbSNP Clinvar
861008 217.13 G C LowCoverage 1/1 7 None None None 0.68730 0.68730 None None None None None None SAMD11|0.017850254|75.37%
View annotation final 1 rs10465242
dbSNP Clinvar
886788 133.51 G A LowCoverage 1/1 4 None None None 0.70907 0.70910 None None None None None None NOC2L|0.129676597|45.92%
View annotation final 1 rs3935066
dbSNP Clinvar
900730 123.51 G A LowCoverage 1/1 4 None None None 0.64736 0.64740 None None None None None None KLHL17|0.108280231|49.52%
View annotation final 1 rs2340594
dbSNP Clinvar
909555 209.13 A G LowCoverage 1/1 6 None None None 0.89697 0.89700 None None None None None None PLEKHN1|0.007235319|83.27%
View annotation final 1 rs2340595
dbSNP Clinvar
914192 55.76 G C LowCoverage 1/1 3 None None None 0.93550 0.93550 None None None None None None PERM1|0.000651256|97.53%
View annotation final 1 rs3128113
dbSNP Clinvar
935459 140.51 A G LowCoverage 1/1 5 None None None 0.67712 0.67710 None None None None None None HES4|0.004519204|86.38%
View annotation final 1 rs3121552
dbSNP Clinvar
977203 224.13 G C LowCoverage 1/1 7 None None None 0.89677 0.89680 None None None None None None AGRN|0.026450221|71.13%
View annotation final 1 rs3128097
dbSNP Clinvar
980460 254.06 G A LowCoverage 1/1 8 None None None 0.91194 0.91190 None None None None None None AGRN|0.026450221|71.13%
View annotation final 1 rs9442371
dbSNP Clinvar
1018562 122.51 C T LowCoverage 1/1 4 None None None 0.53015 0.53020 None None None None None None C1orf159|0.00374564|87.37%
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