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: 11
Number of Genes: 8

Export to: CSV
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AC026369.1

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 12 . 83248 64.0 N <DUP> cnvBinSupportRatio ./1 0 GENE_DUPLICATION MODERATE None None None None None None None

GOLGA6L6

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 15 . 20590037 142.0 N <DUP> cnvBinSupportRatio ./1 0 GENE_DUPLICATION MODERATE None None None None None None None

IGKV2D-26

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 2 . 90010998 47.0 N <DEL> cnvBinSupportRatio 0/1 0 GENE_DELETED HIGH None None None None None None None

OR11H12

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 14 . 19001868 95.0 N <DUP> cnvBinSupportRatio ./1 0 GENE_DUPLICATION MODERATE None None None None None None None

PCDH11X

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 X . 91592775 63.0 N <DUP> cnvBinSupportRatio ./1 0 GENE_DUPLICATION MODERATE None None None None None None PCDH11X|0.213449585|35.17%

PPIAL4G

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 1 . 142536083 116.0 N <DUP> cnvBinSupportRatio ./1 0 STOP_GAINED+EXON_DUPLICATION HIGH None None None None None None None

SPATA31A6

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 9 . 41971398 63.0 N <DEL> cnvBinSupportRatio 0/1 0 CHROMOSOME_LARGE_DELETION HIGH None None None None None None None

TPTE

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 21 . 9828127 122.0 N <DUP> cnvBinSupportRatio ./1 0 GENE_DUPLICATION MODERATE None None None None None None None
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 9 . 68411749 150.0 N <DUP> cnvBinSupportRatio ./1 0 GENE_DUPLICATION MODERATE None None None None None None None
View 60820188472777 cnv 12 . 9634676 46.0 N <DEL> cnvBinSupportRatio 0/1 0 GENE_DELETED HIGH None None None None None None None
View 60820188472777 cnv X . 88452382 13.0 N <DUP> cnvBinSupportRatio ./1 0 GENE_DUPLICATION MODERATE None None None None None None None
  • Page 1 of 1