Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 275,065 G→A T18I (ACC→ATC)  insH1 ← IS5 transposase and trans‑activator

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA275,0650GA100.0% 40.7 / NA 17T18I (ACC→ATC) insH1IS5 transposase and trans‑activator
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base A (7/10);  total (7/10)

CGGGACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCTATTAA  >  NC_000913_3_hsa_tpiA/275002‑275210
                                                               |                                                                                                                                                  
cGGGACAAGAAAATCTCTTTTCTGGTCTCACGGCGCTTACTGCTAAATTCACTGTCGGCGAAGATAAGTTAATGACTCATGATGACCCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCg                                                              <  1:957927/149‑1 (MQ=11)
  ggACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCggg                                                            <  1:315734/149‑2 (MQ=14)
  ggACAAGAAAATCTCCTTTCTGGGCTGACGGCGCGTACTGCTGAATTCACTGTCGGCGAAGATACGTTGCTGACACCAACTGTATCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGa                                                            <  2:431251/149‑1 (MQ=11)
   gACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAg                                                           <  1:893333/149‑1 (MQ=17)
    aCAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAgg                                                          >  1:143498/1‑149 (MQ=18)
     cAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGc                                                         >  1:724119/1‑149 (MQ=21)
          aaaTCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTAt                                                    <  2:463638/149‑1 (MQ=255)
              ctctTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGc                                                <  1:357659/149‑1 (MQ=255)
                  tttCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCCCAGCTTATCGAACGATATCTCATATCAGGGACTTGTTTGCACCTTCCGGAGGCGTTATGTGCTggc                                            >  1:1018379/1‑149 (MQ=14)
                      tGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGcc                                        >  2:1025557/1‑149 (MQ=255)
                         tCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGGTGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACATACATGATCTCATATCAGGAACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCtt                                     >  2:42917/1‑149 (MQ=255)
                            gACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCttttt                                  <  1:958853/149‑1 (MQ=255)
                                gcgcTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTAt                              <  2:820371/149‑1 (MQ=255)
                                        tgctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTGTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGattat                      >  1:124132/1‑149 (MQ=255)
                                          ctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGAttatta                    >  2:496219/1‑149 (MQ=255)
                                                        ggagAAGATAAGTTGATGACACATGATGAACCCTGTTCTATGGCTCCAGATGAAAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCTGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCTa      <  2:85368/146‑1 (MQ=21)
                                                            aaGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCTATTaa  <  2:205092/149‑1 (MQ=255)
                                                               |                                                                                                                                                  
CGGGACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCTATTAA  >  NC_000913_3_hsa_tpiA/275002‑275210

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: