Ensembl

Upload a VCF file to the Ensembl VEP tool.

Select filters for high-impact mutations (nonsense, frameshift).

Cross-reference with ClinVar and phenotype data within the report.

Export the annotated list for clinical review.

Search for a target gene (e.g., BRAF) in the browser.

Analyze tissue-specific expression using integrated GTEx tracks.

Identify orthologs in Zebrafish or Mouse using Ensembl Compara.

Export the sequence data for CRISPR-Cas9 targeting.

Access Ensembl Plants or Ensembl Metazoa.

Map SNP data to the reference assembly.

Identify candidate genes within the QTL region.

Use BioMart to retrieve gene functions and GO terms.

Search for a gene family in the Ensembl Gene Tree view.

Visualize duplication and speciation events.

Download the multiple sequence alignment (MSA).

Perform dN/dS ratio analysis on the sequence data.

Go to the 'Regulation' tab for a gene of interest.

Enable 'Activity' tracks for specific immune cell lines.

Identify open chromatin regions (DNase-seq peaks) upstream of the TSS.

Extract the coordinates for luciferase reporter assays.

Submit the assembly to the Ensembl Rapid Release pipeline.

Run automated gene prediction using RNA-seq data.

Assign gene names based on homology to reference species.

Release the data through the Ensembl genome browser infrastructure.

Select a variant in the 'Variation' view.

Navigate to the 'Population Genetics' tab.

View frequencies across 1000 Genomes and gnomAD populations.

Download frequency data for local population structure analysis.