Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 1,756,430 G→T G245C (GGC→TGC)  pykF → pyruvate kinase I

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA1,756,4300GT100.0% 52.4 / NA 17G245C (GGC→TGC) pykFpyruvate kinase I
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base T (6/11);  total (6/11)

TGACGTTATCGAAATCCGTGAGCACCTGAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACTGCGACCCAGATGCTGGATTCCATGATCAAAAACCCACGC  >  NC_000913_3_hsa_tpiA/1756291‑1756564
                                                                                                                                           |                                                                                                                                      
cgagcttATCGGAATCCCTGCGCTACCGACAGGGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGATAACTAGGCAGGCCATAGCTACGTCGACTCCATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTTGCGACCTgg                                                                                                                               <  2:89561/144‑1 (MQ=255)
     ttATCGAAATCCGTGAGCACCTGAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTa                                                                                                                          <  2:307005/149‑1 (MQ=255)
          gAAATCCGTGAGCACCTGAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGTCATCATCGTTGCGCGTTGCGATCTGCGTGTAAAAAt                                                                                                                     >  2:157657/1‑149 (MQ=255)
             aTCCGTGAGCACCTGAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATccc                                                                                                                  <  2:88052/149‑1 (MQ=255)
                        gcTGGAAGCGCACGGCGGCGAAGACAGCCGCGTCAGCTCCAAAATCGAAAGCCAGGAAGGCCTCAACAGCTTCGACGAAATGCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGaagaag                                                                                                       <  2:181531/148‑1 (MQ=255)
                           gAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAACCTCTGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCGGGAAGAAGAAGTTa                                                                                                    >  1:132437/1‑149 (MQ=255)
                              aGCGTAGGGCGGTGAAAACATCCCCATTACATCCAAAAAGGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAGTCCTCTGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCt                                                                                                 <  2:2993/149‑1 (MQ=255)
                              aGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCt                                                                                                 <  1:152356/149‑1 (MQ=255)
                                           gAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTc                                                                                               >  1:24614/1‑138 (MQ=255)
                                           gAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTc                                                                                               <  2:24614/138‑1 (MQ=255)
                                             aaaCCTACACATCAGCTGCAAAAGCGAAAACCAGGAAGGCGTCAACAACTTTGACGAAATCCTCGAAGCGTCTGACGGCAGCATGGTTGCGCGTTGCGACCTGGGGGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAgatga                                                                                  <  2:167151/149‑1 (MQ=255)
                                                     acaTCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCTCCGAGAAGATGATGATCGaa                                                                          >  1:64224/1‑149 (MQ=255)
                                                             tcCAAAATCGAAAACCAGGAAGACCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGAGGATGATCGAAAAATGTAt                                                                  >  1:148322/1‑149 (MQ=255)
                                                                                       tgacatcTTCGACGAAATCCTCGAAGCCTCGGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACTg                                        <  2:210690/147‑1 (MQ=255)
                                                                                                               aGCCTCTGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACTGCGACCCAGATGCTGGATTCCATGa                <  2:244531/149‑1 (MQ=255)
                                                                                                               aGCCTCTGACGGCATCATGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACTGCGACCCAGATGCTGGATTCCATGa                <  2:148322/149‑1 (MQ=255)
                                                                                                                             tcatGGTTGCGCGTTGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCAAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTGAGCACTGCGACCCAGATGCTGGATTCCATGGTCAAAAACgcgcgc  >  1:352069/1‑149 (MQ=255)
                                                                                                                                           |                                                                                                                                      
TGACGTTATCGAAATCCGTGAGCACCTGAAAGCGCACGGCGGCGAAAACATCCACATCATCTCCAAAATCGAAAACCAGGAAGGCCTCAACAACTTCGACGAAATCCTCGAAGCCTCTGACGGCATCATGGTTGCGCGTGGCGACCTGGGTGTAGAAATCCCGGTAGAAGAAGTTATCTTCGCCCAGAAGATGATGATCGAAAAATGTATCCGTGCACGTAAAGTCGTTATCACTGCGACCCAGATGCTGGATTCCATGATCAAAAACCCACGC  >  NC_000913_3_hsa_tpiA/1756291‑1756564

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: