Example: Disease mutation CHRND_L63P

This is an example of a mutation in the promoter of PIGM.

You can either leave the choice of transcription factors as it is ('All') or manually choose models.

After you are finished, click on 'Analyse'.

Example: Tiny sample VCF file

The VCF file TinyExample.vcf only contains three lines to illustrate the file format:

3	190122694	.	G	A	116	.	.	GT:DP	0/1:154
1	984171	.	CAG	C	116	.	.	GT:DP	0/1:154
21	33036170	.	A	G	116	.	.	GT:DP	0/1:154

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Annotations must refer to GRCh37/hg19. We are currently working on support for GRCh38/hg38.

In the web interface and for performance reasons, FABIAN-variant will analyze only the first 250 variants that fit the filters you can select below. To analyze larger VCF files, please use the API.

An Example of a VCF file can be selected next to the 'Analyse' and 'Reset' buttons.