Additional file 1: of A comprehensive collection of annotations to interpret sequence variation in human mitochondrial transfer RNAs

Variant annotation by 7 different tools. All the annotations provided by MToolBox, ANNOVAR, SnpEff, dbNSFP, MitImpact 2.0, MitoBamAnnotator and mit-o-matic are shown. Three variants were considered (m.879T>C, m.3436G>C, m.4450G>A), one for an rRNA gene (MT-RNR1), one for a tRNA gene (MT-TM) and one for a protein coding gene (MT-ND1). ANNOVAR and SnpEff tools use dbNSFP databases. Generally, all the tools provided an accurate annotation for the missense variant, although we were not able to obtain any information by mit-o-matic web-based software. MToolBox provided the most complete annotation for non protein coding regions. (XLSX 44 kb)