Table 4 Variant annotators comparison for a tRNA gene mutation

MToolBox Annotation

Example

 Locus

MT-TM

 RSRS

Yes

 MHCS

Yes

 rCRS

Yes

 Haplogroup

 Other Haplogroups

 Nt Variability

0.00E+00

 tRNA Annotation

53;II;TS;G;N

 Patho-prediction RNA coding genes

0.65

 MITOMAP Associated Disease(s)

Myopathy

 MITOMAP Homoplasmy

N

 MITOMAP Heteroplasmy

Y

 Mamit-tRNA

http://mamit-trna.u-strasbg.fr/mutations.asp?idAA=19

 PhastCons20Way

0.889764

 PhyloP20Way

0.797921

SnpEff Annotation

Example

 Annotation

non_coding_exon_variant

 Annotation_Impact

MODIFIER

 Gene_Name

MT-TM

 Gene_ID

ENSG00000210112

 Feature_Type

Transcript

 Feature_ID

ENST00000387377

 Transcript_BioType

Mt_tRNA

 Rank

1/1

 HGVS.c

n.49G>A

MitoBamAnnotator

Example

 pos

4450

 ref

G

 from

G

 to

A

 gene

MT-TM

 coding for

tRNA

 coding region

0

 is mutated

1

 triplet position

NA

 mutation type

NA

 has_overlap

0

 CI

NA

mit-o-matic

Example

 Variant

4450

 Ref allele

G

 Alt allele

A

 Gene

MT-TM

 Disease

Myopathy