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Query information, plots and filters
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Query ID: example
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Human Assembly: GRCh38/hg38
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Number of variations: 3500
Export your annotation results as:
VCF per annotation
TXT per annotation
TXT per Variant
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These results will be available until 4:05 p.m., 19 Dec 2019 (GMT)
Plots and Graphical representations:
Karyotype of genomic consequences
Karyotype of genomic consequences
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Select source:
Ensembl
RefSeq
UCSC
CCDS
Include:
Coding (Non-Syn)
Coding (Syn)
UTR
Intronic
Predicted functional consequences
Predicted functional consequences
×
Select source:
Ensembl
RefSeq
UCSC
CCDS
Karyotype of predicted deleteriousness
Karyotype of predicted deleteriousness
×
Select source:
SIFT
PolyPhen
Include:
Probably deleterious
Possible deleterious
Benign
Bar plot of predicted deleterious effect
Bar plot of predicted deleterious effect
×
Select source:
SIFT
PolyPhen
Reactome Pathways Enrichment Graph
Show filters
Type of Variant:
All variants
Known dbSNP
Novel variants
Minor Allele Global Frequency Threshold:
≤
✷ Show variants with global population freq. lower or equal than the threshold (e.g. 0.1)
Include variants without population data in the results
Gene(s):
Add Genes to filter or leave empty to query all Genes
Genomic Consequence:
Any
Coding Non-Synonymous
Coding Synonymous
UTR
Intronic
Predicted Effect (SIFT/PolyPhen):
Any
Benign
Damaging
Conserved Region (Phast):
Any
Within a conserved region
Outside conserved regions
Phenotype Association:
Any
Known phenotype association
Unknown phenotype association
Pathway(s):
Add Pathways to filter or leave empty to query all Pathways
Reset all filters
Apply filters
Annotation Results
Genomic Coordinates and Overlapping
Genomic Coordinates
Overlapped or Nearest Genes
Gene/Protein Consequences
Ensembl
RefSeq
UCSC
CCDS
Effect of Non-synonymous Coding SNPs on Protein Function
SIFT
PolyPhen
Population Data
1000 Genomes
HapMap
gnomAD Exome Data
Regulatory Elements
miRBASE
CpG Islands
TarBase
miRNA
RegBuild
ENCODE
Roadmap
Conservation
Phast
Phenotype & Disease Association
ClinVar
COSMIC
GWAS
Structural Variations
Structural Variations
Pathway Analysis
Reactome
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Barts Cancer Institute