Submit your variants

Provide variants of one individual.

It is important to specify the gender of this individual, if known. ORVAL treats differently X-linked variants in males.

Submit variants as a a VCF file.

ORVAL can analyse single nucleotide variants and small insertions/deletions.

Select the correct genome assembly (GRCh38/hg38 or GRCh37/hg19).

Upload information pertaining to the disease of the individual in the form of either HPO terms or a gene panel.

Click on the buttons for help.

You can further consult our Input Data, Data Filtering and Data Annotation documentation.

IMPORTANT NOTE: VarCoPP is NOT designed to be used for a whole exome analysis, as the huge number of combinations that you will obtain may impede the detection of any True Positive results. If you attempt to run an analysis with a whole exome, your job may fail. Please try HOP in stead.

UPDATE September 2025:
ORVAL 4.0.0 is released, with novel features including the possibility to run samples with HOP. Check the Updates page for more information.

Patient information

Sex

Identifier

Genome assembly

GRCh37/hg19

GRCh38/hg38

Prioritization

Number of top-ranked combinations to return

Upload a VCF file

Choose file ...

Try it with examples:

	Name	Variant count	Download
	Example_VCF_1 (hg19)	24
	Example_VCF_1 (hg38)	24
	Example_VCF_2 (hg19)	1800
	Example_VCF_2 (hg38)	1800

Input disease-related information

Provide either a list of HPO terms corresponding to the patient's phenotype, a list of genes related to the disease, or both.
You can upload a .txt file or use the box for manual input.

HPO terms

Choose HPO file (optional) ...

Example:

Example HPO file

AND/OR

Gene Panel

Choose gene panel file (optional) ...

Example:

VCF_2_gene_panel_file

Variant filtering

It is highly recommended to filter your variants based on the following proposed filtering options. You can unselect an option by clicking on its corresponding check-box.

MAF ≤

Remove Intergenic

Remove intronic/synonymous

Remove intronic and all synonymous

Job information

If you wish to launch your analysis in the background and get an email once it is completed, you can provide your email address below.
Please also check your spam folder, as the email may end up there.

We do not store any email information in our server.

If you are using ORVAL for your analysis, see how to cite us here.