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 at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 9
Number of Genes: 1

Export to: CSV

PSMD13

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 23 recalibrated filtered postcgp gqfiltered 11 rs7128044
dbSNP
244115 161942.01 G A PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81530 0.81530 0.22614 0.73 0.59 -0.65 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs7128029
dbSNP
244141 123455.91 G A PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81530 0.81530 0.22178 0.14 0.00 0.81 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs7116130
dbSNP
244129 125707.99 C T PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81530 0.81530 0.22277 0.18 0.00 2.12 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs7107362
dbSNP
244108 168712.99 A G PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81530 0.81530 0.23823 0.15 0.04 -0.42 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs1128322
dbSNP
244197 112599.99 T C PASS 0/1 49 SYNONYMOUS_CODING LOW SILENT 0.81530 0.81530 0.21109 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs1128321
dbSNP
244171 153486.99 T C PASS 0/1 63 SYNONYMOUS_CODING LOW SILENT 0.81510 0.81510 0.21936 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs1128320
dbSNP
244167 152988.99 C T PASS 0/1 61 SYNONYMOUS_CODING LOW SILENT 0.81530 0.81530 0.21828 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs10902112
dbSNP
244106 165695.99 A G PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81530 0.81530 0.23877 0.15 0.00 -1.16 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs1045288
dbSNP
237087 42349.99 A G PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81709 0.81710 0.20883 1.00 0.00 -0.12 None None None None None None None