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: 6
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_92.variant37 11 . 72552385 238.45 CA... CA... PASS 4/5 11 None None None None None None None None None ATG16L2|0.066744827|58.21%,FCHSD2|0.540526084|14.18%
View combined sample_92.variant37 19 rs141701236
dbSNP Clinvar
52227137 522.41 TA... TA... PASS 4/5 28 None None None None None None None None None HAS1|0.18273667|38.7%
View combined sample_92.variant37 7 . 42187734 163.24 GC... GC... PASS 4/5 11 None None None None None None None None None GLI3|0.399227433|20.82%
View combined sample_92.variant37 7 rs879960124
dbSNP Clinvar
98445127 932.99 CT... CT... PASS 4/5 15 None None None None None None None None None TMEM130|0.024264824|72.09%
View combined sample_92.variant37 2 rs200264093
dbSNP Clinvar
50147835 2706.54 CG... CG... PASS 4/5 81 None None None None None None None None None NRXN1|0.995179441|0.81%
View combined sample_92.variant37 7 rs751173268,rs71161462
dbSNP Clinvar
122769378 1910.1 CT... CT... PASS 4/5 56 None None None None None None None None None SLC13A1|0.17059663|40.24%
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