+ Filter Options

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 1

Genes:
PRIM2,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 36
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

PRIM2
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 60820188472777 cnv 6 . 57240623 72.0 N <DUP> PASS ./1 0 GENE_DUPLICATION MODERATE None None None None None None PRIM2|0.188824743|37.96%
View 60820188472777 cnv 6 . 57395160 45.0 N <DUP> PASS ./1 0 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None PRIM2|0.188824743|37.96%
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 60820188472777 cnv 6 . 163943484 108.0 N <DUP> cnvLength ./1 0 None None None None None None None None None QKI|0.874902913|4.1%
View 60820188472777 cnv 6 . 153958164 19.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None None
View 60820188472777 cnv 6 . 147416741 108.0 N <DUP> cnvLength ./1 0 None None None None None None None None None None
View 60820188472777 cnv 6 . 134589561 21.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None SGK1|0.894668453|3.54%
View 60820188472777 cnv 6 . 132346496 34.0 N <DEL> PASS 0/1 0 None None None None None None None None None None
View 60820188472777 cnv 6 . 132106520 6.0 N <DEL> cnvQual 0/1 0 MOTIF_DELETED LOW None None None None None None None
View 60820188472777 cnv 6 . 103737081 30.0 N <DEL> PASS 0/1 0 None None None None None None None None None None
View 60820188472777 cnv 6 . 102886883 108.0 N <DUP> cnvLength ./1 0 None None None None None None None None None None
View 60820188472777 cnv 6 . 100034037 19.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None None
View 60820188472777 cnv 6 . 97959172 71.0 N <DUP> cnvLength ./1 0 None None None None None None None None None None
View 60820188472777 cnv 6 . 82647513 21.0 N <DEL> cnvLength 0/1 0 MOTIF_DELETED LOW None None None None None None None
View 60820188472777 cnv 6 . 81284125 24.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None None
View 60820188472777 cnv 6 . 77309662 27.0 N <DEL> PASS 0/1 0 None None None None None None None None None None
View 60820188472777 cnv 6 . 77097611 50.0 N <DEL> cnvLength 1/1 0 None None None None None None None None None None
View 60820188472777 cnv 6 . 75701908 108.0 N <DUP> cnvLength ./1 0 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None
View 60820188472777 cnv 6 . 74962401 115.0 N <DUP> cnvLength ./1 0 None None None None None None None None None None
View 60820188472777 cnv 6 . 74591492 26.0 N <DEL> PASS 0/1 0 None None None None None None None None None None
View 60820188472777 cnv 6 . 72863070 51.0 N <DEL> cnvLength 1/1 0 None None None None None None None None None RIMS1|0.665149422|9.51%
View 60820188472777 cnv 6 . 69230518 29.0 N <DUP> PASS ./1 0 None None None None None None None None None None
View 60820188472777 cnv 6 . 56601371 109.0 N <DUP> cnvLength ./1 0 None None None None None None None None None DST|0.807318345|5.62%
View 60820188472777 cnv 6 . 55661260 113.0 N <DUP> cnvLength ./1 0 None None None None None None None None None BMP5|0.960503202|1.95%
View 60820188472777 cnv 6 . 53928211 57.0 N <DEL> cnvLength 1/1 0 None None None None None None None None None MLIP|0.081080511|54.97%
View 60820188472777 cnv 6 . 52554599 28.0 N <DEL> cnvLength 0/1 0 MOTIF_DELETED LOW None None None None None None None
View 60820188472777 cnv 6 . 48931007 20.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None None
View 60820188472777 cnv 6 . 35624275 17.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None FKBP5|0.260198324|30.71%
View 60820188472777 cnv 6 . 32643156 17.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None None
View 60820188472777 cnv 6 . 31274690 16.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None None
View 60820188472777 cnv 6 . 29842768 38.0 N <DEL> PASS 0/1 0 GENE_DELETED HIGH None None None None None None None
View 60820188472777 cnv 6 . 19080912 108.0 N <DUP> cnvLength ./1 0 None None None None None None None None None None
View 60820188472777 cnv 6 . 19041647 25.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None None
View 60820188472777 cnv 6 . 18436854 68.0 N <DUP> cnvLength ./1 0 None None None None None None None None None RNF144B|0.133243276|45.41%
View 60820188472777 cnv 6 . 167487724 24.0 N <DEL> cnvLength 1/1 0 None None None None None None None None None None
View 60820188472777 cnv 6 . 7282849 112.0 N <DUP> cnvLength ./1 0 None None None None None None None None None SSR1|0.292481212|28.18%
View 60820188472777 cnv 6 . 165724455 21.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None None
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