Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 4,189,490 G→T E1387* (GAA→TAA)  rpoC → RNA polymerase, beta prime subunit

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA4,189,4900GT100.0% 130.4 / NA 39E1387* (GAA→TAA) rpoCRNA polymerase, beta prime subunit
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base T (21/18);  total (21/18)

CGGGCAAACGCGACGAACTGCGCGGCCTGAAAGAGAACGTTATCGTGGGTCGTCTGATCCCGGCAGGTACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCAGAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCGGTTCTGATAACGAGTAATCGTTAATCCGCAAATAACGTAAAAACCCGCTTCGGCGGGTTTTTTTATGGGGGGAGTTTAGGGAAAGAGCATTTGTC  >  NC_000913_3_hsa_tpiA/4189344‑4189633
                                                                                                                                                  |                                                                                                                                               
cGGGCAAACGCGACGAACTGCGCGGCCTGAAAGAGAACGTTATCGTGGGTCGTCTGATCCCGGCAGGTACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCataa                                                                                                                                               <  1:444514/149‑1 (MQ=255)
 gggCAAACGCGACGAACTGCGCGGCCTGAAAGAGAACGTTATCGTGGGTCGTCTGATCCCGGCAGGTACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCataag                                                                                                                                              >  2:384027/1‑149 (MQ=255)
  ggCAAACGGGACGAACTGCGCGGCCGGAAAGCGAACGTTATCGTGGGTCGTCTGATCCCGGCAGGTACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCataaga                                                                                                                                             <  2:438498/149‑1 (MQ=255)
   gCAAACGCGACGAACTGCGCGGCCTGAAAGAGAACGTTATCGTGGGTCGTCTGATCCCGGCAGGTACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGAc                                                                                                                                            >  2:679112/1‑149 (MQ=255)
         gcgACGAACTGCGCGGCCTGAAAGAGAACGTTATCGTGGGTCGTCTGATCCCGGCAGGTACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGGGAAGCTCCGGCTGCACCGCAGGGGACTGCATAAGACGCATCt                                                                                                                                      >  1:521892/1‑149 (MQ=255)
           gacgaACTGCGCGGCCTGAAAGAGAACGTTATCGTGGGTCGTCTGATCCCGGCAGGTACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGc                                                                                                                                    <  1:390953/149‑1 (MQ=255)
                     gcgGCCTGAAAGAGAACGTTATCGTGGGTCGTCTGATCCCGGCAGGTACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCa                                                                                                                          >  2:60477/1‑149 (MQ=255)
                       ggCCTGAAAGAGAACGTTATCGTGGGTCGTCTGATCCCGGCAGGTACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATGAGACGCATCTGCCAGCCTGGCAGa                                                                                                                        >  1:416498/1‑149 (MQ=255)
                           tGAAAGAGAACGTTATCGTGGGTCGTCTGATCCCGGCAGGTACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATTTGCCAGCCTAGCAgctctt                                                                                                                    >  1:131283/1‑144 (MQ=255)
                             aaaGAGAACGTTATCGTGGGTCGTCTGATGCCGGCAGGTACCGGTTACGCGTACTACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAActgct                                                                                                                  <  1:619168/149‑1 (MQ=255)
                                gagaACGTTCTCGGCGGTCGTCTGATCCCGGCAGGTACCGGTTACGCGTACCACCAGGCTCGTATGCGTCGCCGTGCTGCGGGTGCAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGaa                                                                                                               <  2:345066/149‑1 (MQ=255)
                                     cggtATCGTGGGTCGGCTGATCCCGGCAGGTACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAg                                                                                                          <  2:236692/146‑1 (MQ=255)
                                      gTTATCGTGGGTCGTCTGATCCCGGCAGGTACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCAGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGCCAGAACTGCTGAACGCAgg                                                                                                         >  2:637253/1‑149 (MQ=255)
                                             tGGGTCGTCTGATCCCGGCAGGTACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACg                                                                                                                                           <  1:526911/108‑1 (MQ=255)
                                             tGGGTCGTCTGATCCCGGCAGGTACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACg                                                                                                                                           <  1:528180/108‑1 (MQ=255)
                                             tGGGTCGTCTGATCCCGGCAGGTACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACg                                                                                                                                           >  2:526911/1‑108 (MQ=255)
                                             tGGGTCGTCTGATCCCGGCAGGTACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGc                                                                                                  <  1:401456/149‑1 (MQ=255)
                                             tGGGTCGTCTGATCCCAGCAGGTACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACg                                                                                                                                           >  2:528180/1‑108 (MQ=255)
                                                           ccGGCAGGGACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCGGTTCTGATAACGa                                                                                    <  2:645168/149‑1 (MQ=255)
                                                            cGGCAGGTACCGGTTACGCGTACCAAAAGGATCCCAAGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCCCAGGTGACTGCATAAGACGCATCTGCCCGCCAGGCAGAACTGCTGAACGCAGGTCCGCGCGGTTCCGATCAcaaa                                                                                   >  2:157036/1‑146 (MQ=255)
                                                                 ggTACCGGTTACGAGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCGGTTCTGATAACGAGTAATc                                                                              <  1:267928/149‑1 (MQ=255)
                                                                  gTACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCGGTTCTGATAACGAGTAATCg                                                                             >  1:234403/1‑149 (MQ=255)
                                                                   tACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCGGGGCGGTTCTGATAACGAGTAATCGt                                                                            >  2:333052/1‑149 (MQ=255)
                                                                           aCGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGAAGAACTTCTGAACGCAGGTCTGGGCGGTTCTGATAACGAGTAATCGTTAATCCGc                                                                    <  1:679112/149‑1 (MQ=255)
                                                                             gcgTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCGGTTc                                                                                             <  1:111708/122‑1 (MQ=255)
                                                                             gcgTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCGGTTc                                                                                             >  2:111708/1‑122 (MQ=255)
                                                                                            cGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCGGTTCTGATAACGAGTAATCGTTAATCCGCAAATAACGTAAAAAccc                                                   <  1:514838/149‑1 (MQ=255)
                                                                                               aTGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCGGTTCTGATAACGAGTAATCGTTAATCCGCAAATAACGTAAAAACCCGcc                                                >  1:114374/1‑148 (MQ=255)
                                                                                               aTGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCGGTTCTGATAACGAGTAATCGTTAATCCGCAAATAACGTAAAAACCCGCt                                                >  1:365828/1‑149 (MQ=255)
                                                                                                      ggcGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCGGTTCTGATAACGAGTAATCGTTAATCCGCAAATAACGTAAAAACCCGCTTcggcgg                                         <  2:521892/147‑1 (MQ=255)
                                                                                                            ctgcGGGTGAAGCTCCGGCTGCAGCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCCGGTCTGATAACGAGTAATCGTTAATCCGCAAATAACGTAAAAACCCGCCGAAGCGGGttttt                                   <  2:495047/149‑1 (MQ=255)
                                                                                                             tgcGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCGGTTCTGATAACGAGTAATCGTTAATCCGCAAATAACGTAAAAACCCGCTTCGGCGGGtttttt                                  >  2:704602/1‑149 (MQ=255)
                                                                                                                gggTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCGGTTCTGATAACGAGTAATCGTTAATCCGCAAATAACGTAAAAACCCGCTTCGGCGGGTTTTTTTAt                               <  1:60477/149‑1 (MQ=255)
                                                                                                                 ggTGAAGCTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCGGTTCTGATAACGAGTAATCGTTAATCCGCAAATAACGTAAAAACCCGCTTCGGCGGGTTTTTTTATg                              <  2:597948/149‑1 (MQ=255)
                                                                                                                    gAAGCTCCGGCTGCACCGCAGGGGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCGGTTCTGATAACGAGTAATCGTTAATCCGCAAATAACGTAAAAACCCGCTTCGGCGGGTCTTTTTATgggg                           <  2:447863/149‑1 (MQ=255)
                                                                                                                        cTCCGGCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGACCTGCTGAACGCAGGTCTGGGCGGTTCTGATAACGAGTAATCGTTAATCCGCAAATAACGTAAAAACCCGCTTCGGCGGGTTTTTTTATGGGGGGAg                       >  1:231118/1‑149 (MQ=255)
                                                                                                                             gCTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTAGGCGGTTCTGATAACGAGTAATCGTTAATCCGCAAATAACGTAAAAACCCGCTTCGGCGGGTTTTTTTATGGGGGGAGTTTAg                  >  2:619821/1‑149 (MQ=255)
                                                                                                                              cTGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCGGTTCTGATAACGAGTAATCGTTAATCCGCAAATAACGTAAAAACCCGCTTCGGCGGGTTTTTTTATGGGGGGAGTTTAgg                 >  1:694653/1‑149 (MQ=255)
                                                                                                                               tGCACCGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCGGTTCTGATAACGAGTAATCGTTAATCCGCAAATAACGTAAAAACCCGCTTCGGCGGGTTTTTTTATGGGGGGCGTTTAggg                >  2:314039/1‑149 (MQ=255)
                                                                                                                                    cGCAGGTGACTGCATAAGACGCATCTGCCAGCCTGACAGAACTGCTGAACGCAGGTCTGGGCGGTTCTGATAACGAGTAATCGTTAATCCGCAAATAACGTAAAAACCCGCTTCGGCGGGTTTTGTTATGGGGGGAGGTTAGGAAAaga           >  1:585999/1‑149 (MQ=255)
                                                                                                                                          tgcttGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCGGTTCTGATAACGAGTAATCGTTAATCCGCAAATAACGTAAAAACCCGCTTCGGCGGGTTTTTTTATGGGGGGAGTTTAGGGAAAGAGCAttt     <  1:561156/145‑1 (MQ=255)
                                                                                                                                             cTGCATAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCGGTTCTGATAACGAGTAATCGTTAATCCGCAAATAACGTAAAAACCCGCTTCGGCGGGTTTTTTTATGGGGGGAGTTTAGGGAAAGAGCATTTGTc  >  1:547185/1‑149 (MQ=255)
                                                                                                                                                  |                                                                                                                                               
CGGGCAAACGCGACGAACTGCGCGGCCTGAAAGAGAACGTTATCGTGGGTCGTCTGATCCCGGCAGGTACCGGTTACGCGTACCACCAGGATCGTATGCGTCGCCGTGCTGCGGGTGAAGCTCCGGCTGCACCGCAGGTGACTGCAGAAGACGCATCTGCCAGCCTGGCAGAACTGCTGAACGCAGGTCTGGGCGGTTCTGATAACGAGTAATCGTTAATCCGCAAATAACGTAAAAACCCGCTTCGGCGGGTTTTTTTATGGGGGGAGTTTAGGGAAAGAGCATTTGTC  >  NC_000913_3_hsa_tpiA/4189344‑4189633

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: