A BAM file containins five MNVs (Multiple Nucleotide Variants) for the purposes of testing bioinformatics pipelines.
You can test whether your bioinformatics pipeline correctly processes and annotates MNVs by processing this file.
The MNVs included are:
| Variant Number | Genome position (GRCh37) | Nucleotide change | Codon change | Wild-type codon | Variant codon |
|---|---|---|---|---|---|
| 1 | 20:43052669_43052671 | NM_175914:c.838_840delinsTTC | p.Leu280Phe | CTG | TTC |
| 2 | 20:43053017_43053019 | NM_001030004:c.1187_1188delinsGG | p.*396Trpext*26 | TAA | TGG |
| 3 | 20:43056977_43056979 | NM_175914:c.1066_1067delinsAG | p.Ser356Ser | TCC | AGC |
| 4 | 20:43058207_43058209 | NM_175914:c.1262_1263delinsGA | p.Ser421* | TCT | TGA |
| 5 | 20:43058219_43058221 | NM_175914:c.1274_1275delinsGT | p.Lys425Ser | AAG | AGT |