Variant Statistics



Sample Number of SNP Synonymous variant Missense variant Stop gained Stop lost Number of INDEL Frameshift variant Inframe insertion Inframe deletion Het/Hom ratio Ts/Tv ratio
Show Description

  •   · Synonymous variant : Variant causes a codon that produces the same amino acid e.g.: Ttg/Ctg, L/L.
  •   · Missense variant : Variant causes a codon that produces a different amino acid e.g.: Tgg/Cgg, W/R.
  •   · Stop gained : Variant causes a STOP codon e.g.: Cag/Tag, Q/*.
  •   · Stop lost : Variant causes stop codon to be mutated into a non-stop codon e.g.: Tga/Cga, */R.
  •   · Frameshift variant : Insertion or deletion causes a frame shift e.g.: An indel size is not multple of 3.
  •   · Inframe insertion : One or many codons are inserted e.g.: An insert multiple of three in a codon boundary.
  •   · Inframe deletion : An inframe non synonymous variant that deletes bases from the coding sequence.
  •   · Het/Hom ratio : Ratio of number of heterozygous variants to number of homozygous variants.
  •   · Ts/Tv ratio : Ratio of transition rate of SNVs that pass the quality filters divided by transversion rate of SNVs that pass the quality filters. Transition rate of SNVs that pass the quality filters divided by transversion rate of SNVs that pass the quality filters. Transitions are interchanges of purines (A,G) or of pyrimidines (C, T). Transversions are interchanges between purine and pyrimidine bases (for example, A to T).


Scroll to zoom in/out & Drag to move focus



Click to zoom in/out