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Annotation, Visualization and Impact Analysis

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Analysis of Genomic Variations with AVIA

AVIA Annotation and Visualization Request

In this tool, users will be able to annotate their data with publicly available databases, as well as upload their own databases. Users will also have the opportunity to visualize each of these databases as tracks within Circos.  If a gene list is specified in Section II, the highlight and filter options only apply to the Circos visualization. Please read our FAQ or Tutorials for detailed information.  If you do not have any data to start with, click on the button below labeled 'Sample BED data' for a self guided tutorial.

Section I. Input Data (Required)

A field with an asterisk (*) before it is a required field.

  (?)
Check ONLY if your input file is a compressed file (zip, tar or gzip) with multiple variant files
-- or --
(?)
Input format:
*Organism and build  Check to use Ensembl annotation instead of RefSeq.
*E-mail address:
You will be notified by email when the process is complete
*Confirm E-mail address:
 

Section II. Annotation and Visualization Parameters

By default, your variants will be annotated using Protein coding algorithms under "Protein Coding". Click on options below to customize your annotations. Expand/Collapse any category by clicking on the arrows.
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Customize your annotation below:
 Protein Coding Select all in Protein Coding
 Disease Related Select all in Disease Related
 Non-coding Regulators Select all in Non-coding Regulators
 Targets of Non-coding Regulators Select all in Targets of Non-coding Regulators
 Known Variations Select all in Known Variations
 Genomics Datasets Select all in Genomics Datasets
 Genomic Features Select all in Genomic Features
 Alternative Splicing and Enhancers Select all in Alternative Splicing and Enhancers
 Sequence Mapability and Mutability Select all in Sequence Mapability and Mutability
 Pathway Visualization Select all in Pathway Visualization

Specify your own annotation databases:
(?)
General Options:

Section III. Prioritization

Function based Prioritization of Sequence Variants (FunSeq) workflow
By clicking this box, I am verifying that I have read the full disclaimer and I fully understand that the information provided for me by AVIA is for research purposes only. The ABCC, FNLCR, and the NIH or any of the linked websites do not approve use of this information for diagnostic purposes.