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% 48.2 / NA 22T18I (ACC→ATC) insH1IS5 transposase and trans‑activator
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base A (10/12);  total (10/12)

GACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCTAT  >  NC_000913_3_hsa_tpiA/275005‑275207
                                                            |                                                                                                                                              
gACAAGAAACTCTCGTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAATCCTGTTCTATGGCTCCAGATGACAAACCGGTACTCATATCAGGGACTTGTTCGCACCTTCCGGAg                                                        <  2:179061/149‑1 (MQ=11)
gACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAg                                                        >  2:519443/1‑149 (MQ=17)
  cAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGc                                                      <  2:459660/149‑1 (MQ=21)
       aaaTCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTAt                                                 <  2:753363/149‑1 (MQ=38)
         aTCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGa                                               <  1:754880/149‑1 (MQ=255)
           ctctTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGc                                             >  1:598540/1‑149 (MQ=255)
            tctTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATCAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGCCAAACATGATCTCATATCAGGGACTTGTTCGCGCCTTCAGGAGGCGTTGTAAGCt                                            >  1:41885/1‑149 (MQ=11)
            tctTTTCGGGTTTTACGGCGCTTCCTGCTGAAATCCTTGTCGAGCAAGATAAGTTGATCACTCATCATGAACCCTATTCTACGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCt                                            <  1:586365/149‑1 (MQ=14)
              ttttCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCGGTTCTATGGCTCCAGATGACAAACATGATCTCCTTTCAGGGACTTGTTCGCCCCTTCCGGCGGCGTTATGACCTgc                                          >  2:257418/1‑148 (MQ=11)
                     ggcTGACGGCGCGTACTGCTGAATTCACTGTCGGCGAATATAAGTTGATGGCTCATGATGAACCCTGTTCTATGGCTCCAGATGTCAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCt                                   <  1:190133/147‑1 (MQ=17)
                        ttaCGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGCCGTTATGAACTGGCGGCCCtttt                                >  2:559750/3‑149 (MQ=255)
                                     tgctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGACCTTGTTCGCAACTTCCGGAGGCGTTCTGAAACGGCTGCCCTTTTTGTATCTGcttat                   >  2:752434/1‑149 (MQ=17)
                                      gctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCCGattatc                  >  1:700158/1‑148 (MQ=255)
                                       ctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCGCATATCAGGGCCTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGAttatta                 >  2:342428/1‑149 (MQ=255)
                                        tgAATTCACTGTCGGCGAAGATAAGTTGATGTCTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTaa                <  2:400579/149‑1 (MQ=255)
                                        tgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCGCCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTaa                <  2:129481/149‑1 (MQ=255)
                                          aaTTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGATCACGTCCCTTTTTGTATCTGATTATTAATc              >  2:380626/1‑149 (MQ=17)
                                            ttCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTTGCTGGTGATTATTccc            <  2:306979/149‑1 (MQ=17)
                                             tCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATcccc           <  1:519443/149‑1 (MQ=255)
                                              cACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAAAATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTTGCGGCCCTTTTTGTATCTGATTATTAATCCCCa          >  2:53287/1‑149 (MQ=255)
                                               aCTGTCGGCTAAAATAAGATTATGATTCAGGAGGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCAc         <  1:358186/149‑1 (MQ=21)
                                                      gCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCTAt  <  2:777975/149‑1 (MQ=255)
                                                            |                                                                                                                                              
GACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCTAT  >  NC_000913_3_hsa_tpiA/275005‑275207

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: