...
- Variant: the variant coded as chr:position ref/alt
- SNP Id: if the variant is included in dbSNP, this field will show the rsID, otherwise, it will be empty
- Genes: if the variant overlaps with a gene, the gene symbol will be displayed here, otherwise, it will be empty. If it overlaps with more than one gene, they will be listed separated by comma
- Type: type of variant, SNV (Single Nucleotide Variant), MNV (Multi-nucleotide Variant), CNV (Copy Number Variant), SV (Structural Variant) or INDEL (Insertion or deletion)
- Consequence Type: this is the predicted effect of the variant in the genome. If a variant has more than one consequence type (because it overlaps different transcripts and/or genes), the "worst" consequence will be displayed. Consequence types are also colour coded according to their impact to improve readability:
- High impact in red
- Moderate impact in orange
- Low impact in blue
- Modifier in green
Variant detail
bla bla